Table 1 mRNA Sequences 
    
 
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1: NM_005423. Homo sapiens tref...[gi:4885628] Links  


LOCUS       TFF2                     390 bp    mRNA    linear   PRI 01-NOV-2000
DEFINITION  Homo sapiens trefoil factor 2 (spasmolytic protein 1) (TFF2), mRNA.
ACCESSION   NM_005423
VERSION     NM_005423.1  GI:4885628
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 390)
  AUTHORS   Tomasetto,C., Rio,M.C., Gautier,C., Wolf,C., Hareuveni,M.,
            Chambon,P. and Lathe,R.
  TITLE     hSP, the domain-duplicated homolog of pS2 protein, is co-expressed
            with pS2 in stomach but not in breast carcinoma
  JOURNAL   EMBO J. 9 (2), 407-414 (1990)
  MEDLINE   90151615
   PUBMED   2303034
REFERENCE   2  (bases 1 to 390)
  AUTHORS   Tomasetto,C., Rockel,N., Mattei,M.G., Fujita,R. and Rio,M.C.
  TITLE     The gene encoding the human spasmolytic protein (SML1/hSP) is in
            21q 22.3, physically linked to the homologous breast cancer marker
            gene BCEI/pS2
  JOURNAL   Genomics 13 (4), 1328-1330 (1992)
  MEDLINE   92372037
   PUBMED   1505966
REFERENCE   3  (bases 1 to 390)
  AUTHORS   Gott,P., Beck,S., Machado,J.C., Carneiro,F., Schmitt,H. and Blin,N.
  TITLE     Human trefoil peptides: genomic structure in 21q22.3 and
            coordinated expression
  JOURNAL   Eur. J. Hum. Genet. 4 (6), 308-315 (1996)
  MEDLINE   97196773
   PUBMED   9043862
REFERENCE   4  (bases 1 to 390)
  AUTHORS   Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS,
            Toyoda A, Ishii K, Totoki Y, Choi DK, Soeda E, Ohki M, Takagi T,
            Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J,
            Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M
            and Schudy A.
  TITLE     The DNA sequence of human chromosome 21
  JOURNAL   Nature 405 (6784), 311-319 (2000)
  MEDLINE   20289799
   PUBMED   10830953
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from U47292.1.
            Summary: Members of the trefoil family are characterized by having
            at least one copy of the trefoil motif, a 40-amino acid domain that
            contains three conserved disulfides. They are stable secretory
            proteins expressed in gastrointestinal mucosa. Their functions are
            not defined, but they may protect the mucosa from insults,
            stabilize the mucus layer and affect healing of the epithelium.
            TFF2, which is expressed in the gastric mucosa, has also been
            studied because of its expression in human tumors. The TFF2 gene
            consists of 4 exons, with exons 2 and 3 each encoding a trefoil
            domain. The TFF1, TFF2, and TFF3 genes are located within a 55 kb
            region, suggesting they evolved from a common ancestor by
            duplication.
FEATURES             Location/Qualifiers
     source          1..390
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..390
                     /gene="TFF2"
                     /note="SML1"
                     /db_xref="LocusID:7032"
                     /db_xref="MIM:182590"
     CDS             1..390
                     /gene="TFF2"
                     /note="spasmolytic protein 1; trefoil factor 2, SML1,
                     human spasmolytic polypeptide (SP)"
                     /codon_start=1
                     /product="trefoil factor 2 (spasmolytic protein 1)"
                     /protein_id="NP_005414.1"
                     /db_xref="GI:4885629"
                     /db_xref="LocusID:7032"
                     /db_xref="MIM:182590"
                     /translation="MGRRDAQLLAALLVLGLCALAGSEKPSPCQCSRLSPHNRTNCGF
                     PGITSDQCFDNGCCFDSSVTGVPWCFHPLPKQESDQCVMEVSDRRNCGYPGISPEECA
                     SRKCCFSNFIFEVPWCFFPKSVEDCHY"
     misc_feature    97..216
                     /gene="TFF2"
                     /note="trefoil; Region: Trefoil (P-type) domain"
                     /db_xref="CDD:pfam00088"
     misc_feature    103..216
                     /gene="TFF2"
                     /note="P; Region: P or trefoil or TFF domain"
                     /db_xref="CDD:P"
     misc_feature    235..372
                     /gene="TFF2"
                     /note="P; Region: P or trefoil or TFF domain"
                     /db_xref="CDD:P"
     misc_feature    238..363
                     /gene="TFF2"
                     /note="trefoil; Region: Trefoil (P-type) domain"
                     /db_xref="CDD:pfam00088"
BASE COUNT       75 a    122 c    108 g     85 t
ORIGIN      
        1 atgggacggc gagacgccca gctcctggca gcgctcctcg tcctggggct atgtgccctg
       61 gcggggagtg agaaaccctc cccctgccag tgctccaggc tgagccccca taacaggacg
      121 aactgcggct tccctggaat caccagtgac cagtgttttg acaatggatg ctgtttcgac
      181 tccagtgtca ctggggtccc ctggtgtttc caccccctcc caaagcaaga gtcggatcag
      241 tgcgtcatgg aggtctcaga ccgaagaaac tgtggctacc cgggcatcag ccccgaggaa
      301 tgcgcctctc ggaagtgctg cttctccaac ttcatctttg aagtgccctg gtgcttcttc
      361 ccgaagtctg tggaagactg ccattactaa 
//



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1: NM_003357. Homo sapiens secr...[gi:21359852] Links  


LOCUS       SCGB1A1                  481 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens secretoglobin, family 1A, member 1 (uteroglobin)
            (SCGB1A1), mRNA.
ACCESSION   NM_003357
VERSION     NM_003357.2  GI:21359852
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 481)
  AUTHORS   Singh,G., Katyal,S.L., Brown,W.E., Phillips,S., Kennedy,A.L.,
            Anthony,J. and Squeglia,N.
  TITLE     Amino-acid and cDNA nucleotide sequences of human Clara cell 10 kDa
            protein
  JOURNAL   Biochim. Biophys. Acta 950 (3), 329-337 (1988)
  MEDLINE   89000784
   PUBMED   3167058
REFERENCE   2  (bases 1 to 481)
  AUTHORS   Wolf,M., Klug,J., Hackenberg,R., Gessler,M., Grzeschik,K.H.,
            Beato,M. and Suske,G.
  TITLE     Human CC10, the homologue of rabbit uteroglobin: genomic cloning,
            chromosomal localization and expression in endometrial cell lines
  JOURNAL   Hum. Mol. Genet. 1 (6), 371-378 (1992)
  MEDLINE   93250776
   PUBMED   1284526
REFERENCE   3  (bases 1 to 481)
  AUTHORS   Hay,J.G., Danel,C., Chu,C.S. and Crystal,R.G.
  TITLE     Human CC10 gene expression in airway epithelium and subchromosomal
            locus suggest linkage to airway disease
  JOURNAL   Am. J. Physiol. 268 (4 Pt 1), L565-L575 (1995)
  MEDLINE   95250987
   PUBMED   7733299
REFERENCE   4  (bases 1 to 481)
  AUTHORS   Zhang,Z., Zimonjic,D.B., Popescu,N.C., Wang,N., Gerhard,D.S.,
            Stone,E.M., Arbour,N.C., De Vries,H.G., Scheffer,H., Gerritsen,J.,
            Colle'e,J.M., Ten Kate,L.P. and Mukherjee,A.B.
  TITLE     Human uteroglobin gene: structure, subchromosomal localization, and
            polymorphism
  JOURNAL   DNA Cell Biol. 16 (1), 73-83 (1997)
  MEDLINE   97174312
   PUBMED   9022046
REFERENCE   5  (bases 1 to 481)
  AUTHORS   Muller-Schottle,F., Classen-Linke,I., Alfer,J., Krusche,C.,
            Beier-Hellwig,K., Sterzik,K. and Beier,H.M.
  TITLE     Expression of uteroglobin in the human endometrium
  JOURNAL   Mol. Hum. Reprod. 5 (12), 1155-1161 (1999)
  MEDLINE   20054915
   PUBMED   10587371
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC004481.1.
            On Jun 9, 2002 this sequence version replaced gi:4507808.
FEATURES             Location/Qualifiers
     source          1..481
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.3-q13.1"
                     /clone="MGC:10583 IMAGE:3688615"
                     /tissue_type="Pancreas, adenocarcinoma"
                     /clone_lib="NIH_MGC_39"
                     /lab_host="DH10B-R"
                     /note="Vector: pOTB7"
     gene            1..481
                     /gene="SCGB1A1"
                     /note="UGB; CC10; CC16; CCSP"
                     /db_xref="LocusID:7356"
                     /db_xref="MIM:192020"
     CDS             55..330
                     /gene="SCGB1A1"
                     /note="Uteroglobin (Clara-cell specific 10-kD protein);
                     secretoglobin, family 1A, member 1; uteroglobin"
                     /codon_start=1
                     /product="secretoglobin, family 1A, member 1
                     (uteroglobin)"
                     /protein_id="NP_003348.1"
                     /db_xref="GI:4507809"
                     /db_xref="LocusID:7356"
                     /db_xref="MIM:192020"
                     /translation="MKLAVTLTLVTLALCCSSASAEICPSFQRVIETLLMDTPSSYEA
                     AMELFSPDQDMREAGAQLKKLVDTLPQKPRESIIKLMEKIAQSSLCN"
     misc_feature    55..324
                     /gene="SCGB1A1"
                     /note="Region: pfam01099, Uteroglobin, Uteroglobin family.
                     Uteroglobin is a homodimer of two identical 70 amino acid
                     polypeptides linked by two disulphide bridges. The precise
                     role of uteroglobin has still to be elucidated"
     misc_feature    118..324
                     /gene="SCGB1A1"
                     /note="Region: smart00096, UTG, Uteroglobin"
BASE COUNT      159 a    144 c     94 g     84 t
ORIGIN      
        1 ggcacgaggc agagacggaa ccagagacag gccagagcat ccccctcctc caccatgaaa
       61 ctcgctgtca ccctcaccct ggtcacactg gctctctgct gcagctccgc ttctgcagag
      121 atctgcccga gctttcagcg tgtcatcgaa accctcctca tggacacacc ctccagttat
      181 gaggctgcca tggaactttt cagccctgat caagacatga gggaggcagg ggctcagctg
      241 aagaagctgg tggacaccct cccccaaaag cccagagaaa gcatcattaa gctcatggaa
      301 aaaatagccc aaagctcact gtgtaattag catttagaag ctgaagatcc ccaactgctc
      361 cagcctctgc cgctgccatg ctttgagtcc acgcccacca gccttgctct cttcaataaa
      421 ccacaagcat ctcaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa
      481 a
//



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1: NM_016583. Homo sapiens pala...[gi:18765703] Links  


LOCUS       PLUNC                   1049 bp    mRNA    linear   PRI 19-FEB-2002
DEFINITION  Homo sapiens palate, lung and nasal epithelium carcinoma associated
            (PLUNC), transcript variant 1, mRNA.
ACCESSION   NM_016583
VERSION     NM_016583.2  GI:18765703
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1049)
  AUTHORS   Bingle,C.D. and Bingle,L.
  TITLE     Characterisation of the human plunc gene, a gene product with an
            upper airways and nasopharyngeal restricted expression pattern
  JOURNAL   Biochim. Biophys. Acta 1493 (3), 363-367 (2000)
  MEDLINE   20472055
   PUBMED   11018263
REFERENCE   2  (bases 1 to 1049)
  AUTHORS   Iwao,K., Watanabe,T., Fujiwara,Y., Takami,K., Kodama,K.,
            Higashiyama,M., Yokouchi,H., Ozaki,K., Monden,M. and Tanigami,A.
  TITLE     Isolation of a novel human lung-specific gene, LUNX, a potential
            molecular marker for detection of micrometastasis in non-small-cell
            lung cancer
  JOURNAL   Int. J. Cancer 91 (4), 433-437 (2001)
  MEDLINE   21150203
   PUBMED   11251963
REFERENCE   3  (bases 1 to 1049)
  AUTHORS   Lindahl,M., Stahlbom,B. and Tagesson,C.
  TITLE     Identification of a new potential airway irritation marker, palate
            lung nasal epithelial clone protein, in human nasal lavage fluid
            with two-dimensional electrophoresis and matrix-assisted laser
            desorption/ionization-time of flight
  JOURNAL   Electrophoresis 22 (9), 1795-1800 (2001)
  MEDLINE   21317946
   PUBMED   11425234
REFERENCE   4  (bases 1 to 1049)
  AUTHORS   Ghafouri,B., Stahlbom,B., Tagesson,C. and Lindahl,M.
  TITLE     Newly identified proteins in human nasal lavage fluid from
            non-smokers and smokers using two-dimensional gel electrophoresis
            and peptide mass fingerprinting
  JOURNAL   Proteomics 2 (1), 112-120 (2002)
  MEDLINE   21648993
   PUBMED   11788998
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC012549.1.
            On Feb 19, 2002 this sequence version replaced gi:7706118.
            Summary: This gene is the human homolog of murine plunc, and like
            the mouse gene, is specifically expressed in the upper airways and
            nasopharyngeal regions. The exact biological function of this gene
            is not known, however, it has been suggested to be involved in
            inflammatory responses to irritants in the upper airways. It may
            also serve as a potential molecular marker for detection of
            micrometastasis in non-small-cell lung cancer. Multiple transcript
            variants resulting from alternative splicing in the 3' UTR have
            been detected, but the full-length nature of only two is known.
            Transcript Variant: This variant (1) utilizes exon 9, and has a
            shorter 3' UTR compared to transcript variant 2. Both variants
            encode the same protein.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1049
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.2"
                     /clone="MGC:13372 IMAGE:4246419"
                     /clone_lib="NIH_MGC_81"
     gene            1..1049
                     /gene="PLUNC"
                     /note="LUNX; bA49G10.5"
                     /db_xref="LocusID:51297"
     CDS             72..842
                     /gene="PLUNC"
                     /note="Nasopharyngeal carcinoma-related protein; tracheal
                     epithelium enriched protein"
                     /codon_start=1
                     /product="palate, lung and nasal epithelium carcinoma
                     associated protein precursor"
                     /protein_id="NP_057667.1"
                     /db_xref="GI:7706119"
                     /db_xref="LocusID:51297"
                     /translation="MFQTGGLIVFYGLLAQTMAQFGGLPVPLDQTLPLNVNPALPLSP
                     TGLAGSLTNALSNGLLSGGLLGILENLPLLDILKPGGGTSGGLLGGLLGKVTSVIPGL
                     NNIIDIKVTDPQLLELGLVQSPDGHRLYVTIPLGIKLQVNTPLVGASLLRLAVKLDIT
                     AEILAVRDKQERIHLVLGDCTHSPGSLQISLLDGLGPLPIQGLLDSLTGILNKVLPEL
                     VQGNVCPLVNEVLRGLDITLVHDIVNMLIHGLQFVIKV"
     sig_peptide     72..128
                     /gene="PLUNC"
     mat_peptide     129..839
                     /gene="PLUNC"
                     /product="palate, lung and nasal epithelium carcinoma
                     associated protein"
     misc_feature    876^877
                     /gene="PLUNC"
                     /note="Region: Location of additional sequence in
                     transcript variant 2"
     polyA_signal    999..1004
                     /gene="PLUNC"
     variation       1008
                     /gene="PLUNC"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3187610"
     variation       1008
                     /gene="PLUNC"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1129583"
     polyA_site      1020
                     /gene="PLUNC"
                     /evidence=experimental
BASE COUNT      244 a    289 c    272 g    244 t
ORIGIN      
        1 ggagtggggg agagagagga gaccaggaca gctgctgaga cctctaagaa gtccagatac
       61 taagagcaaa gatgtttcaa actgggggcc tcattgtctt ctacgggctg ttagcccaga
      121 ccatggccca gtttggaggc ctgcccgtgc ccctggacca gaccctgccc ttgaatgtga
      181 atccagccct gcccttgagt cccacaggtc ttgcaggaag cttgacaaat gccctcagca
      241 atggcctgct gtctgggggc ctgttgggca ttctggaaaa ccttccgctc ctggacatcc
      301 tgaagcctgg aggaggtact tctggtggcc tccttggggg actgcttgga aaagtgacgt
      361 cagtgattcc tggcctgaac aacatcattg acataaaggt cactgacccc cagctgctgg
      421 aacttggcct tgtgcagagc cctgatggcc accgtctcta tgtcaccatc cctctcggca
      481 taaagctcca agtgaatacg cccctggtcg gtgcaagtct gttgaggctg gctgtgaagc
      541 tggacatcac tgcagaaatc ttagctgtga gagataagca ggagaggatc cacctggtcc
      601 ttggtgactg cacccattcc cctggaagcc tgcaaatttc tctgcttgat ggacttggcc
      661 ccctccccat tcaaggtctt ctggacagcc tcacagggat cttgaataaa gtcctgcctg
      721 agttggttca gggcaacgtg tgccctctgg tcaatgaggt tctcagaggc ttggacatca
      781 ccctggtgca tgacattgtt aacatgctga tccacggact acagtttgtc atcaaggtct
      841 aagccttcca ggaaggggct ggcctctgct gagctgcttc ccagtgctca cagatggctg
      901 gcccatgtgc tggaagatga cacagttgcc ttctctccga ggaacctgcc ccctctcctt
      961 tcccaccagg cgtgtgtaac atcccatgtg cctcacctaa taaaatggct cttcttctgc
     1021 aaaaaaaaaa aaaaaaaaaa aaaaaaaaa
//



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1: NM_001449. Homo sapiens four...[gi:21361121] Links  


LOCUS       FHL1                    2407 bp    mRNA    linear   PRI 10-JUN-2002
DEFINITION  Homo sapiens four and a half LIM domains 1 (FHL1), mRNA.
ACCESSION   NM_001449
VERSION     NM_001449.2  GI:21361121
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2407)
  AUTHORS   Strausberg,R.
  TITLE     Homo sapiens four and a half LIM domains 1 (FHL1), mRNA
  JOURNAL   Unpublished (2001)
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC010998.1.
            On Jun 10, 2002 this sequence version replaced gi:4503720.
FEATURES             Location/Qualifiers
     source          1..2407
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26"
                     /clone="MGC:15297 IMAGE:4039973"
                     /tissue_type="Lung, large cell carcinoma"
                     /clone_lib="NIH_MGC_18"
                     /lab_host="DH10B-R"
                     /note="Vector: pOTB7"
     gene            1..2407
                     /gene="FHL1"
                     /note="KYO-T; SLIM1"
                     /db_xref="LocusID:2273"
                     /db_xref="MIM:300163"
     CDS             218..1060
                     /gene="FHL1"
                     /note="Four-and-a-half LIM domains 1"
                     /codon_start=1
                     /product="four and a half LIM domains 1"
                     /protein_id="NP_001440.2"
                     /db_xref="GI:21361122"
                     /db_xref="LocusID:2273"
                     /db_xref="MIM:300163"
                     /translation="MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECR
                     KPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETFVAKDNKILCNKCTTREDSPKCK
                     GCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK
                     HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVA
                     KKCAGCKNPITGFGKGSSVVAYEGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYCPDC
                     AKKL"
     misc_feature    335..493
                     /gene="FHL1"
                     /note="LIM; Region: LIM domain"
                     /db_xref="CDD:pfam00412"
     misc_feature    335..493
                     /gene="FHL1"
                     /note="LIM; Region: Zinc-binding domain present in Lin-11,
                     Isl-1, Mec-3."
                     /db_xref="CDD:smart00132"
     misc_feature    515..676
                     /gene="FHL1"
                     /note="LIM; Region: Zinc-binding domain present in Lin-11,
                     Isl-1, Mec-3."
                     /db_xref="CDD:smart00132"
     misc_feature    518..694
                     /gene="FHL1"
                     /note="LIM; Region: LIM domain"
                     /db_xref="CDD:pfam00412"
     misc_feature    701..856
                     /gene="FHL1"
                     /note="LIM; Region: LIM domain"
                     /db_xref="CDD:pfam00412"
     misc_feature    701..853
                     /gene="FHL1"
                     /note="LIM; Region: Zinc-binding domain present in Lin-11,
                     Isl-1, Mec-3."
                     /db_xref="CDD:smart00132"
     misc_feature    875..1045
                     /gene="FHL1"
                     /note="LIM; Region: Zinc-binding domain present in Lin-11,
                     Isl-1, Mec-3."
                     /db_xref="CDD:smart00132"
     variation       1958
                     /gene="FHL1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:9018"
     variation       complement(2220)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2746"
BASE COUNT      650 a    587 c    545 g    625 t
ORIGIN      
        1 ggcacgaggc ggagggggct cagtccgcag ccgccgccgc caccgccgcg cctcggcctc
       61 ggtgcaggca gcggccgccg ccgccgagac agctgcgcgg gcgagcatcc ccacgcagca
      121 ccttggaagt tgttttcaac catatccagc ctttgccgaa tacatcctat ctgccacaca
      181 tccagcgtga ggtccctcca gctacaaggt gggcaccatg gcggagaagt ttgactgcca
      241 ctactgcagg gatcccttgc aggggaagaa gtatgtgcaa aaggatggcc accactgctg
      301 cctgaaatgc tttgacaagt tctgtgccaa cacctgtgtg gaatgccgca agcccatcgg
      361 tgcggactcc aaggaggtgc actataagaa ccgcttctgg catgacacct gcttccgctg
      421 tgccaagtgc cttcacccct tggccaatga gacctttgtg gccaaggaca acaagatcct
      481 gtgcaacaag tgcaccactc gggaggactc ccccaagtgc aaggggtgct tcaaggccat
      541 tgtggcagga gatcaaaacg tggagtacaa ggggaccgtc tggcacaaag actgcttcac
      601 ctgtagtaac tgcaagcaag tcatcgggac tggaagcttc ttccctaaag gggaggactt
      661 ctactgcgtg acttgccatg agaccaagtt tgccaagcat tgcgtgaagt gcaacaaggc
      721 catcacatct ggaggaatca cttaccagga tcagccctgg catgccgatt gctttgtgtg
      781 tgttacctgc tctaagaagc tggctgggca gcgtttcacc gctgtggagg accagtatta
      841 ctgcgtggat tgctacaaga actttgtggc caagaagtgt gctggatgca agaaccccat
      901 cactgggttt ggtaaaggct ccagtgtggt ggcctatgaa ggacaatcct ggcacgacta
      961 ctgcttccac tgcaaaaaat gctccgtgaa tctggccaac aagcgctttg ttttccacca
     1021 ggagcaagtg tattgtcccg actgtgccaa aaagctgtaa actgacaggg gctcctgtcc
     1081 tgtaaaatgg catttgaatc tcgttctttg tgtccttact ttctgcccta taccatcaat
     1141 aggggaagag tggtccttcc cttctttaaa gttctccttc cgtcttttct cccattttac
     1201 agtattactc aaataagggc acacagtgat catattagca tttagcaaaa agcaaccctg
     1261 cagcaaagtg aatttctgtc cggctgcaat ttaaaaatga aaacttaggt agattgactc
     1321 ttctgcatgt ttctcataga gcagaaaagt gctaatcatt tagccactta gtgatgtaag
     1381 caagaagcat aggagataaa acccccactg agatgcctct catgcctcag ctgggaccca
     1441 ccgtgtagac acacgacatg caagagttgc agcggctgct ccaactcact gctcaccctc
     1501 ttctgtgagc aggaaaagaa ccctactgac atgcatggtt taacttcctc atcagaactc
     1561 tgcccttcct tctgttcttt tgtgctttca aataactaac acgaacttcc agaaaattaa
     1621 catttgaact tagctgtaat tctaaactga cctttccccg tactaacgtt tggtttcccc
     1681 gtgtggcatg ttttctgagc gttcctactt taaagcatgg aacatgcagg tgatttggga
     1741 agtgtagaaa gacctgagaa aacgagcctg tttcagagga acatcgtcac aacgaatact
     1801 tctggaagct taacaaaact aaccctgctg tcctttttat tgtttttaat taatattttt
     1861 gttttaattg atagcaaaat agtttatggg tttggaaact tgcatgaaaa tattttagcc
     1921 ccctcagatg ttcctgcagt gctgaaattc atcctacgga agtaaccgca aaactctaga
     1981 gggggagttg agcaggcgcc agggctgtca tcaacatgga tatgacattt cacaacagtg
     2041 actagttgaa tcccttgtaa cgtagtagtt gtctgctctt tgtccatgtg ttaatgagga
     2101 ctgcaaagtc ccttctgttg tgattcctag gacttttcct caagaggaaa tctggatttc
     2161 cacctaccgc ttacctgaaa tgcaggatca cctacttact gtattctaca ttattatatg
     2221 acatagtata atgagacaat atcaaaagta aacatgtaat gacaatacat actaacattc
     2281 ttgtaggagt ggttagagaa gctgatgcct catttctaca ttctgtcatt agctattatc
     2341 atctaacgtt tcagtgtatc cttacagaaa taaagcagca tatgaaaaaa aaaaaaaaaa
     2401 aaaaaaa
//



Revised: July 5, 2002.
 
 


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1: NM_003645. Homo sapiens solu...[gi:23111065] Links  


LOCUS       SLC27A2                 2343 bp    mRNA    linear   PRI 18-SEP-2002
DEFINITION  Homo sapiens solute carrier family 27 (fatty acid transporter),
            member 2 (SLC27A2), mRNA.
ACCESSION   NM_003645
VERSION     NM_003645.2  GI:23111065
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2343)
  AUTHORS   Hirsch,D., Stahl,A. and Lodish,H.F.
  TITLE     A family of fatty acid transporters conserved from mycobacterium to
            man
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 95 (15), 8625-8629 (1998)
  MEDLINE   98337965
   PUBMED   9671728
REFERENCE   2  (bases 1 to 2343)
  AUTHORS   Wakui,K., Aoyama,T., Uchiyama,A., Hashimoto,T. and Fukushima,Y.
  TITLE     Assignment of human fatty-acid-coenzyme A ligase, very long-chain 1
            gene (FACVL1) to human chromosome band 15q21.2 by fluorescence in
            situ hybridization
  JOURNAL   Cytogenet. Cell Genet. 81 (3-4), 292-293 (1998)
  MEDLINE   98399873
   PUBMED   9730624
REFERENCE   3  (bases 1 to 2343)
  AUTHORS   Steinberg,S.J., Wang,S.J., Kim,D.G., Mihalik,S.J. and Watkins,P.A.
  TITLE     Human very-long-chain acyl-CoA synthetase: cloning, topography, and
            relevance to branched-chain fatty acid metabolism
  JOURNAL   Biochem. Biophys. Res. Commun. 257 (2), 615-621 (1999)
  MEDLINE   99216327
   PUBMED   10198260
REFERENCE   4  (bases 1 to 2343)
  AUTHORS   Watkins,P.A., Pevsner,J. and Steinberg,S.J.
  TITLE     Human very long-chain acyl-CoA synthetase and two human homologs:
            initial characterization and relationship to fatty acid transport
            protein
  JOURNAL   Prostaglandins Leukot. Essent. Fatty Acids 60 (5-6), 323-328 (1999)
  MEDLINE   99397717
   PUBMED   10471116
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D88308.1.
            On Sep 18, 2002 this sequence version replaced gi:4503652.
            Summary: The protein encoded by this gene is an isozyme of
            long-chain fatty-acid-coenzyme A ligase family. Although differing
            in substrate specificity, subcellular localization, and tissue
            distribution, all isozymes of this family convert free long-chain
            fatty acids into fatty acyl-CoA esters, and thereby play a key role
            in lipid biosynthesis and fatty acid degradation. This isozyme
            activates long-chain, branched-chain and very-long-chain fatty
            acids containing 22 or more carbons to their CoA derivatives. It is
            expressed primarily in liver and kidney, and is present in both
            endoplasmic reticulum and peroxisomes but not in mitochondria. Its
            decreased peroxisomal enzyme activity is in part responsible for
            the biochemical pathology in X-linked adrenoleukodystrophy.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2343
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.2"
     gene            1..2343
                     /gene="SLC27A2"
                     /note="VLCS; FATP2; VLACS; FACVL1"
                     /db_xref="LocusID:11001"
                     /db_xref="MIM:603247"
     CDS             204..2066
                     /gene="SLC27A2"
                     /EC_number="6.2.1.-"
                     /note="very long-chain fatty-acid-coenzyme A ligase 1;
                     very-long-chain acyl-CoA synthetase"
                     /codon_start=1
                     /product="solute carrier family 27 (fatty acid
                     transporter), member 2"
                     /protein_id="NP_003636.1"
                     /db_xref="GI:4503653"
                     /db_xref="LocusID:11001"
                     /db_xref="MIM:603247"
                     /translation="MLSAIYTVLAGLLFLPLLVNLCCPYFFQDIGYFLKVAAVGRRVR
                     SYGQRRPARTILRAFLEKARQTPHKPFLLFRDETLTYAQVDRRSNQVARALHDHLGLR
                     QGDCVALLMGNEPAYVWLWLGLVKLGCAMACLNYNIRAKSLLHCFQCCGAKVLLVSPE
                     LQAAVEEILPSLKKDDVSIYYVSRTSNTDGIDSFLDKVDEVSTEPIPESWRSEVTFST
                     PALYIYTSGTTGLPKAAMITHQRIWYGTGLTFVSGLKADDVIYITLPFYHSAALLIGI
                     HGCIVAGATLALRTKFSASQFWDDCRKYNVTVIQYIGELLRYLCNSPQKPNDRDHKVR
                     LALGNGLRGDVWRQFVKRFGDICIYEFYAATEGNIGFMNYARKVGAVGRVNYLQKKII
                     TYDLIKYDVEKDEPVRDENGYCVRVPKGEVGLLVCKITQLTPFNGYAGAKAQTEKKKL
                     RDVFKKGDLYFNSGDLLMVDHENFIYFHDRVGDTFRWKGENVATTEVADTVGLVDFVQ
                     EVNVYGVHVPDHEGRIGMASIKMKENHEFDGKKLFQHIADYLPSYARPRFLRIQDTIE
                     ITGTFKHRKMTLVEEGFNPAVIKDALYFLDDTAKMYVPMTEDIYNAISAKTLKL"
     misc_feature    204..266
                     /gene="SLC27A2"
                     /note="Region: transmembrane region"
     misc_feature    441..1739
                     /gene="SLC27A2"
                     /note="Region: pfam00501, AMP-binding, AMP-binding enzyme"
     misc_feature    522..584
                     /gene="SLC27A2"
                     /note="Region: transmembrane region"
     misc_feature    879..905
                     /gene="SLC27A2"
                     /note="Region: ATP binding domain"
     misc_feature    987..1049
                     /gene="SLC27A2"
                     /note="Region: transmembrane region"
     polyA_signal    2333..2338
                     /gene="SLC27A2"
BASE COUNT      619 a    552 c    587 g    585 t
ORIGIN      
        1 atacgactac acctgctccg gagcccgcgg cggtacctgc agcggaggag ctctgtcttc
       61 cccttcatct cacgcgagcc cggcgtcccg ccgcgtgcgc cccggcgcag cccgccagtc
      121 cgcccggagc ccgcccagtc gccgcgctgc acgcccgggg tgaaccctct gccctcgctg
      181 ggacagaggg ccccgcagcc gtcatgcttt ccgccatcta cacagtcctg gcgggactgc
      241 tgttcctgcc gctcctggtg aacctctgct gcccatactt cttccaggac ataggctact
      301 tcttgaaggt ggccgccgtg ggccggaggg tgcgcagcta cgggcagcgg cggccggcgc
      361 gcaccatcct gcgggcgttc ctggagaaag cgcgccagac gccacacaag ccttttctgc
      421 tcttccgcga cgagactctc acctacgcgc aggtggaccg gcgcagcaat caagtggccc
      481 gggcgctgca cgaccacctc ggcctgcgcc agggagactg cgtggcgctc cttatgggta
      541 acgagccggc ctacgtgtgg ctgtggctgg ggctggtgaa gctgggctgt gccatggcgt
      601 gcctcaatta caacatccgc gcgaagtccc tgctgcactg cttccagtgc tgcggggcga
      661 aggtgctgct ggtgtcgcca gaactacaag cagctgtcga agagatactg ccaagcctta
      721 aaaaagatga tgtgtccatc tattatgtga gcagaacttc taacacagat gggattgact
      781 ctttcctgga caaagtggat gaagtatcaa ctgaacctat cccagagtca tggaggtctg
      841 aagtcacttt ttccactcct gccttataca tttatacttc tggaaccaca ggtcttccaa
      901 aagcagccat gatcactcat cagcgcatat ggtatggaac tggcctcact tttgtaagcg
      961 gattgaaggc agatgatgtc atctatatca ctctgccctt ttaccacagt gctgcactac
     1021 tgattggcat tcacggatgt attgtggctg gtgctactct tgccttgcgg actaaatttt
     1081 cagccagcca gttttgggat gactgcagaa aatacaacgt cactgtcatt cagtatatcg
     1141 gtgaactgct tcggtattta tgcaactcac cacagaaacc aaatgaccgt gatcataaag
     1201 tgagactggc actgggaaat ggcttacgag gagatgtgtg gagacaattt gtcaagagat
     1261 ttggggacat atgcatctat gagttctatg ctgccactga aggcaatatt ggatttatga
     1321 attatgcgag aaaagttggt gctgttggaa gagtaaacta cctacagaaa aaaatcataa
     1381 cttatgacct gattaaatat gatgtggaga aagatgaacc tgtccgtgat gaaaatggat
     1441 attgcgtcag agttcccaaa ggtgaagttg gacttctggt ttgcaaaatc acacaactta
     1501 caccatttaa tggctatgct ggagcaaagg ctcagacaga gaagaaaaaa ctgagagatg
     1561 tctttaagaa aggagacctc tatttcaaca gtggagatct cttaatggtt gaccatgaaa
     1621 atttcatcta tttccacgac agagttggag atacattccg gtggaaaggg gaaaatgtgg
     1681 ccaccactga agttgctgat acagttggac tggttgattt tgtccaagaa gtaaatgttt
     1741 atggagtgca tgtgccagat catgagggtc gcattggcat ggcctccatc aaaatgaaag
     1801 aaaaccatga atttgatgga aagaaactct ttcagcacat tgctgattac ctacctagtt
     1861 atgcaaggcc ccggtttcta agaatacagg acaccattga gatcactgga acttttaaac
     1921 accgcaaaat gaccctggtg gaggagggct ttaaccctgc tgtcatcaaa gatgccttgt
     1981 atttcttgga tgacacagca aaaatgtatg tgcctatgac tgaggacatc tataatgcca
     2041 taagtgctaa aaccctgaaa ctctgaatat tcccaggagg ataactcaac atttccagaa
     2101 agaaactgaa tggacagcca cttgatataa tccaacttta atttgattga agattgtgag
     2161 gaaattttgt aggaaatttg catacccgta aagggagact tttttaaata acagttgagt
     2221 ctttgcaagt aaaaagattt agagattatt atttttcagt gtgcacctac tgtttgtatt
     2281 tgcaaactga gcttgttgga gggaaggcat tattttttaa aatacttagt aaattaaatg
     2341 aac
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_000238. Homo sapiens pota...[gi:4557728] Links  


LOCUS       KCNH2                   4070 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens potassium voltage-gated channel, subfamily H
            (eag-related), member 2 (KCNH2), mRNA.
ACCESSION   NM_000238
VERSION     NM_000238.1  GI:4557728
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4070)
  AUTHORS   Warmke,J.W. and Ganetzky,B.
  TITLE     A family of potassium channel genes related to eag in Drosophila
            and mammals
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 91 (8), 3438-3442 (1994)
  MEDLINE   94211879
   PUBMED   8159766
REFERENCE   2  (bases 1 to 4070)
  AUTHORS   Jiang C, Atkinson D, Towbin JA, Splawski I, Lehmann MH, Li H,
            Timothy K, Taggart RT, Schwartz PJ, Vincent GM et al.
  TITLE     Two long QT syndrome loci map to chromosomes 3 and 7 with evidence
            for further heterogeneity
  JOURNAL   Nat. Genet. 8 (2), 141-147 (1994)
  MEDLINE   95144170
   PUBMED   7842012
REFERENCE   3  (bases 1 to 4070)
  AUTHORS   Vincent,G.M.
  TITLE     The molecular genetics of the long QT syndrome: genes causing
            fainting and sudden death
  JOURNAL   Annu. Rev. Med. 49, 263-274 (1998)
  MEDLINE   98170000
   PUBMED   9509262
REFERENCE   4  (bases 1 to 4070)
  AUTHORS   Ackerman,M.J.
  TITLE     The long QT syndrome: ion channel diseases of the heart
  JOURNAL   Mayo Clin. Proc. 73 (3), 250-269 (1998)
  MEDLINE   98172776
   PUBMED   9511785
REFERENCE   5  (bases 1 to 4070)
  AUTHORS   Taglialatela,M., Castaldo,P., Pannaccione,A., Giorgio,G. and
            Annunziato,L.
  TITLE     Human ether-a-gogo related gene (HERG) K+ channels as
            pharmacological targets: present and future implications
  JOURNAL   Biochem. Pharmacol. 55 (11), 1741-1746 (1998)
  MEDLINE   98378093
   PUBMED   9714291
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U04270.1.
            Summary: KCNH2 encodes a human homologue of the Drosophila
            melanogaster eag gene, a potassium channel protein.  Along with
            five other human genes, mutations in KCNH2 that result in loss of
            function or dominant negative function cause long QT syndrome.
FEATURES             Location/Qualifiers
     source          1..4070
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q35-q36"
                     /clone="pBII+HH1, pBII+HH10, pBHH10-4.5"
                     /sex="female"
                     /tissue_type="hippocampus"
                     /clone_lib="Stratagene Number 936205 Human hippocampus
                     cDNA library"
                     /dev_stage="2 year old"
     gene            1..4070
                     /gene="KCNH2"
                     /note="HERG; LQT2"
                     /db_xref="LocusID:3757"
                     /db_xref="MIM:152427"
     CDS             184..3663
                     /gene="KCNH2"
                     /note="human eag related potassium channel"
                     /codon_start=1
                     /product="potassium voltage-gated channel, subfamily H,
                     member 2"
                     /protein_id="NP_000229.1"
                     /db_xref="GI:4557729"
                     /db_xref="LocusID:3757"
                     /db_xref="MIM:152427"
                     /translation="MPVRRGHVAPQNTFLDTIIRKFEGQSRKFIIANARVENCAVIYC
                     NDGFCELCGYSRAEVMQRPCTCDFLHGPRTQRRAAAQIAQALLGAEERKVEIAFYRKD
                     GSCFLCLVDVVPVKNEDGAVIMFILNFEVVMEKDMVGSPAHDTNHRGPPTSWLAPGRA
                     KTFRLKLPALLALTARESSVRSGGAGGAGAPGAVVVDVDLTPAAPSSESLALDEVTAM
                     DNHVAGLGPAEERRALVGPGSPPRSAPGQLPSPRAHSLNPDASGSSCSLARTRSRESC
                     ASVRRASSADDIEAMRAGVLPPPPRHASTGAMHPLRSGLLNSTSDSDLVRYRTISKIP
                     QITLNFVDLKGDPFLASPTSDREIIAPKIKERTHNVTEKVTQVLSLGADVLPEYKLQA
                     PRIHRWTILHYSPFKAVWDWLILLLVIYTAVFTPYSAAFLLKETEEGPPATECGYACQ
                     PLAVVDLIVDIMFIVDILINFRTTYVNANEEVVSHPGRIAVHYFKGWFLIDMVAAIPF
                     DLLIFGSGSEELIGLLKTARLLRLVRVARKLDRYSEYGAAVLFLLMCTFALIAHWLAC
                     IWYAIGNMEQPHMDSRIGWLHNLGDQIGKPYNSSGLGGPSIKDKYVTALYFTFSSLTS
                     VGFGNVSPNTNSEKIFSICVMLIGSLMYASIFGNVSAIIQRLYSGTARYHTQMLRVRE
                     FIRFHQIPNPLRQRLEEYFQHAWSYTNGIDMNAVLKGFPECLQADICLHLNRSLLQHC
                     KPFRGATKGCLRALAMKFKTTHAPPGDTLVHAGDLLTALYFISRGSIEILRGDVVVAI
                     LGKNDIFGEPLNLYARPGKSNGDVRALTYCDLHKIHRDDLLEVLDMYPEFSDHFWSSL
                     EITFNLRDTNMIPGSPGSTELEGGFSRQRKRKLSFRRRTDKDTEQPGEVSALGPGRAG
                     AGPSSRGRPGGPWGESPSSGPSSPESSEDEGPGRSSSPLRLVPFSSPRPPGEPPGGEP
                     LMEDCEKSSDTCNPLSGAFSGVSNIFSFWGDSRGRQYQELPRCPAPTPSLLNIPLSSP
                     GRRPRGDVESRLDALQRQLNRLETRLSADMATVLQLLQRQMTLVPPAYSAVTTPGPGP
                     TSTSPLLPVSPLPTLTLDSLSQVSQFMACEELPPGAPELPQEGPTRRLSLPGQLGALT
                     SQPLHRHGSDPGS"
     misc_feature    463..588
                     /gene="KCNH2"
                     /note="PAC; Region: PAC motif"
                     /db_xref="CDD:pfam00785"
     misc_feature    463..585
                     /gene="KCNH2"
                     /note="PAC; Region: Motif C-terminal to PAS motifs (likely
                     to contribute to PAS structural domain)"
                     /db_xref="CDD:PAC"
     misc_feature    1801..2367
                     /gene="KCNH2"
                     /note="CNG_membrane; Region: Transmembrane region cyclic
                     Nucleotide Gated Channel"
                     /db_xref="CDD:pfam00914"
     misc_feature    2407..2763
                     /gene="KCNH2"
                     /note="cNMP; Region: Cyclic nucleotide-monophosphate
                     binding domain"
                     /db_xref="CDD:cNMP"
     misc_feature    2461..2724
                     /gene="KCNH2"
                     /note="cNMP_binding; Region: Cyclic nucleotide-binding
                     domain"
                     /db_xref="CDD:pfam00027"
     variation       1282
                     /gene="KCNH2"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:2228160"
     variation       1875
                     /gene="KCNH2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1805121"
     variation       2139
                     /gene="KCNH2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3201408"
     variation       2139
                     /gene="KCNH2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1137617"
     variation       3888
                     /gene="KCNH2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1060516"
     variation       3949
                     /gene="KCNH2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1060517"
     variation       3964
                     /gene="KCNH2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1064800"
BASE COUNT      713 a   1413 c   1255 g    689 t
ORIGIN      
        1 acgcggcctg ctcaggcctc cagcggccgg tcggagggga ggcgggaggc gagcgaggac
       61 ccgcgcccgc agtccagtct gtgcgcgccc gtgctcgctt ggcgcggtgc gggaccagcg
      121 ccggccaccc gaagcctagt gcgtcgccgg gtgggtgggc ccgcccggcg ccatgggctc
      181 aggatgccgg tgcggagggg ccacgtcgcg ccgcagaaca ccttcctgga caccatcatc
      241 cgcaagtttg agggccagag ccgtaagttc atcatcgcca acgctcgggt ggagaactgc
      301 gccgtcatct actgcaacga cggcttctgc gagctgtgcg gctactcgcg ggccgaggtg
      361 atgcagcgac cctgcacctg cgacttcctg cacgggccgc gcacgcagcg ccgcgctgcc
      421 gcgcagatcg cgcaggcact gctgggcgcc gaggagcgca aagtggaaat cgccttctac
      481 cggaaagatg ggagctgctt cctatgtctg gtggatgtgg tgcccgtgaa gaacgaggat
      541 ggggctgtca tcatgttcat cctcaatttc gaggtggtga tggagaagga catggtgggg
      601 tccccggctc atgacaccaa ccaccggggc ccccccacca gctggctggc cccaggccgc
      661 gccaagacct tccgcctgaa gctgcccgcg ctgctggcgc tgacggcccg ggagtcgtcg
      721 gtgcggtcgg gcggcgcggg cggcgcgggc gccccggggg ccgtggtggt ggacgtggac
      781 ctgacgcccg cggcacccag cagcgagtcg ctggccctgg acgaagtgac agccatggac
      841 aaccacgtgg cagggctcgg gcccgcggag gagcggcgtg cgctggtggg tcccggctct
      901 ccgccccgca gcgcgcccgg ccagctccca tcgccccggg cgcacagcct caaccccgac
      961 gcctcgggct ccagctgcag cctggcccgg acgcgctccc gagaaagctg cgccagcgtg
     1021 cgccgcgcct cgtcggccga cgacatcgag gccatgcgcg ccggggtgct gcccccgcca
     1081 ccgcgccacg ccagcaccgg ggccatgcac ccactgcgca gcggcttgct caactccacc
     1141 tcggactccg acctcgtgcg ctaccgcacc attagcaaga ttccccaaat caccctcaac
     1201 tttgtggacc tcaagggcga ccccttcttg gcttcgccca ccagtgaccg tgagatcata
     1261 gcacctaaga taaaggagcg aacccacaat gtcactgaga aggtcaccca ggtcctgtcc
     1321 ctgggcgccg acgtgctgcc tgagtacaag ctgcaggcac cgcgcatcca ccgctggacc
     1381 atcctgcatt acagcccctt caaggccgtg tgggactggc tcatcctgct gctggtcatc
     1441 tacacggctg tcttcacacc ctactcggct gccttcctgc tgaaggagac ggaagaaggc
     1501 ccgcctgcta ccgagtgtgg ctacgcctgc cagccgctgg ctgtggtgga cctcatcgtg
     1561 gacatcatgt tcattgtgga catcctcatc aacttccgca ccacctacgt caatgccaac
     1621 gaggaggtgg tcagccaccc cggccgcatc gccgtccact acttcaaggg ctggttcctc
     1681 atcgacatgg tggccgccat ccccttcgac ctgctcatct tcggctctgg ctctgaggag
     1741 ctgatcgggc tgctgaagac tgcgcggctg ctgcggctgg tgcgcgtggc gcggaagctg
     1801 gatcgctact cagagtacgg cgcggccgtg ctgttcttgc tcatgtgcac ctttgcgctc
     1861 atcgcgcact ggctagcctg catctggtac gccatcggca acatggagca gccacacatg
     1921 gactcacgca tcggctggct gcacaacctg ggcgaccaga taggcaaacc ctacaacagc
     1981 agcggcctgg gcggcccctc catcaaggac aagtatgtga cggcgctcta cttcaccttc
     2041 agcagcctca ccagtgtggg cttcggcaac gtctctccca acaccaactc agagaagatc
     2101 ttctccatct gcgtcatgct cattggctcc ctcatgtatg ctagcatctt cggcaacgtg
     2161 tcggccatca tccagcggct gtactcgggc acagcccgct accacacaca gatgctgcgg
     2221 gtgcgggagt tcatccgctt ccaccagatc cccaatcccc tgcgccagcg cctcgaggag
     2281 tacttccagc acgcctggtc ctacaccaac ggcatcgaca tgaacgcggt gctgaagggc
     2341 ttccctgagt gcctgcaggc tgacatctgc ctgcacctga accgctcact gctgcagcac
     2401 tgcaaaccct tccgaggggc caccaagggc tgccttcggg ccctggccat gaagttcaag
     2461 accacacatg caccgccagg ggacacactg gtgcatgctg gggacctgct caccgccctg
     2521 tacttcatct cccggggctc catcgagatc ctgcggggcg acgtcgtcgt ggccatcctg
     2581 gggaagaatg acatctttgg ggagcctctg aacctgtatg caaggcctgg caagtcgaac
     2641 ggggatgtgc gggccctcac ctactgtgac ctacacaaga tccatcggga cgacctgctg
     2701 gaggtgctgg acatgtaccc tgagttctcc gaccacttct ggtccagcct ggagatcacc
     2761 ttcaacctgc gagataccaa catgatcccg ggctcccccg gcagtacgga gttagagggt
     2821 ggcttcagtc ggcaacgcaa gcgcaagttg tccttccgca ggcgcacgga caaggacacg
     2881 gagcagccag gggaggtgtc ggccttgggg ccgggccggg cgggggcagg gccgagtagc
     2941 cggggccggc cgggggggcc gtggggggag agcccgtcca gtggcccctc cagccctgag
     3001 agcagtgagg atgagggccc aggccgcagc tccagccccc tccgcctggt gcccttctcc
     3061 agccccaggc cccccggaga gccgccgggt ggggagcccc tgatggagga ctgcgagaag
     3121 agcagcgaca cttgcaaccc cctgtcaggc gccttctcag gagtgtccaa cattttcagc
     3181 ttctgggggg acagtcgggg ccgccagtac caggagctcc ctcgatgccc cgcccccacc
     3241 cccagcctcc tcaacatccc cctctccagc ccgggtcggc ggccccgggg cgacgtggag
     3301 agcaggctgg atgccctcca gcgccagctc aacaggctgg agacccggct gagtgcagac
     3361 atggccactg tcctgcagct gctacagagg cagatgacgc tggtcccgcc cgcctacagt
     3421 gctgtgacca ccccggggcc tggccccact tccacatccc cgctgttgcc cgtcagcccc
     3481 ctccccaccc tcaccttgga ctcgctttct caggtttccc agttcatggc gtgtgaggag
     3541 ctgcccccgg gggccccaga gcttccccaa gaaggcccca cacgacgcct ctccctaccg
     3601 ggccagctgg gggccctcac ctcccagccc ctgcacagac acggctcgga cccgggcagt
     3661 tagtggggct gcccagtgtg gacacgtggc tcacccaggg atcaaggcgc tgctgggccg
     3721 ctccccttgg aggccctgct caggaggccc tgaccgtgga aggggagagg aactcgaaag
     3781 cacagctcct cccccagccc ttgggaccat cttctcctgc agtcccctgg gccccagtga
     3841 gaggggcagg ggcagggccg gcagtaggtg gggcctgtgg tccccccact gccctgaggg
     3901 cattagctgg tctaactgcc cggaggcacc cggccctggg ccttaggcac ctcaaggact
     3961 tttctgctat ttactgctct tattgttaag gataataatt aaggatcata tgaataatta
     4021 atgaagatgc tgatgactat gaataataaa taattatcct gaggagaaaa 
//



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1: NM_001713. Homo sapiens beta...[gi:4502406] Links  


LOCUS       BHMT                    2436 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens betaine-homocysteine methyltransferase (BHMT), mRNA.
ACCESSION   NM_001713
VERSION     NM_001713.1  GI:4502406
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2436)
  AUTHORS   Garrow,T.A.
  TITLE     Purification, kinetic properties, and cDNA cloning of mammalian
            betaine-homocysteine methyltransferase
  JOURNAL   J. Biol. Chem. 271 (37), 22831-22838 (1996)
  MEDLINE   96394355
   PUBMED   8798461
REFERENCE   2  (bases 1 to 2436)
  AUTHORS   Park,E.I. and Garrow,T.A.
  TITLE     Interaction between dietary methionine and methyl donor intake on
            rat liver betaine-homocysteine methyltransferase gene expression
            and organization of the human gene
  JOURNAL   J. Biol. Chem. 274 (12), 7816-7824 (1999)
  MEDLINE   99175153
   PUBMED   10075673
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U50929.1.
            Summary: Betaine-homocysteine methyltransferase is a cytosolic
            enzyme that catalyzes the conversion of betaine and homocysteine to
            dimethylglycine and methionine, respectively. Defects in BHMT could
            lead to hyperhomocyst(e)inemia,but such a defect has not yet been
            observed.
FEATURES             Location/Qualifiers
     source          1..2436
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.1-q15"
                     /tissue_type="liver"
     gene            1..2436
                     /gene="BHMT"
                     /db_xref="LocusID:635"
                     /db_xref="MIM:602888"
     CDS             27..1247
                     /gene="BHMT"
                     /EC_number="2.1.1.5"
                     /function="betaine-dependent methylation of homocysteine"
                     /codon_start=1
                     /product="betaine-homocysteine methyltransferase"
                     /protein_id="NP_001704.1"
                     /db_xref="GI:4502407"
                     /db_xref="LocusID:635"
                     /db_xref="MIM:602888"
                     /translation="MPPVGGKKAKKGILERLNAGEIVIGDGGFVFALEKRGYVKAGPW
                     TPEAAVEHPEAVRQLHREFLRAGSNVMQTFTFYASEDKLENRGNYVLEKISGQEVNEA
                     ACDIARQVADEGDALVAGGVSQTPSYLSCKSETEVKKVFLQQLEVFMKKNVDFLIAEY
                     FEHVEEAVWAVETLIASGKPVAATMCIGPEGDLHGVPPGECAVRLVKAGASIIGVNCH
                     FDPTISLKTVKLMKEGLEAAQLKAHLMSQPLAYHTPDCNKQGFIDLPEFPFGLEPRVA
                     TRWDIQKYAREAYNLGVRYIGGCCGFEPYHIRAIAEELAPERGFLPPASEKHGSWGSG
                     LDMHTKPWVRARARKEYWENLRIASGRPYNPSMSKPDGWGVTKGTAELMQQKEATTEQ
                     QLKELFEKQKFKSQ"
     variation       742
                     /gene="BHMT"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3733890"
     variation       1140
                     /gene="BHMT"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1050825"
     variation       1516
                     /gene="BHMT"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:585800"
BASE COUNT      772 a    498 c    568 g    598 t
ORIGIN      
        1 cgaccacctg tctggacacc acaaagatgc cacccgttgg gggcaaaaag gccaagaagg
       61 gcatcctaga acgtttaaat gctggagaga ttgtgattgg agatggaggg tttgtctttg
      121 cactggagaa gaggggctac gtaaaggcag gaccctggac tcctgaagct gctgtggagc
      181 acccagaagc agttcgccag cttcatcgag agttcctcag agctggctca aacgtcatgc
      241 agaccttcac cttctatgcg agtgaagaca agctggagaa caggggcaac tatgtcttag
      301 agaagatatc tgggcaggaa gtcaatgaag ctgcttgcga catcgcccga caagtggctg
      361 atgaaggaga tgctttggta gcaggaggag tgagtcagac accttcatac cttagctgca
      421 agagtgaaac tgaagtcaaa aaagtatttc tgcaacagtt agaggtcttt atgaagaaga
      481 acgtggactt cttgattgca gagtattttg aacacgttga agaagctgtg tgggcagttg
      541 aaaccttgat agcatccggt aaacctgtgg cagcaaccat gtgcattggc ccagaaggag
      601 atttgcatgg cgtgcccccc ggcgagtgtg cagtgcgcct ggtgaaagca ggagcatcca
      661 tcattggtgt gaactgccac tttgacccca ccattagttt aaaaacagtg aagctcatga
      721 aggagggctt ggaggctgcc caactgaaag ctcacctgat gagccagccc ttggcttacc
      781 acactcctga ctgcaacaag cagggattca tcgatctccc agaattccca tttggactgg
      841 aacccagagt tgccaccaga tgggatattc aaaaatacgc cagagaggcc tacaacctgg
      901 gggtcaggta cattggcggg tgctgtggat ttgagcccta ccacatcagg gcaattgcag
      961 aggagctggc cccagaaagg ggctttttgc caccagcttc agaaaaacat ggcagctggg
     1021 gaagtggttt ggacatgcac accaaaccct gggttagagc aagggccagg aaggaatact
     1081 gggagaatct tcggatagcc tcaggccggc catacaaccc ttcaatgtca aagccagatg
     1141 gctggggagt gaccaaagga acagccgagc tgatgcagca gaaagaagcc acaactgagc
     1201 agcagctgaa agagctcttt gaaaaacaaa aattcaaatc acagtagcct cgatagaagc
     1261 tatttttgat gaatttctag gtgtttgggt cacagttcct acaaatacgg aaaagggggt
     1321 taaaaagcag tgctttcatg aatgccatcc tacacatatt attgctatta cctgaacaaa
     1381 atagaattac aaatagcact tgataatttt aaagtatgtt ttagaaattt tcttaggagc
     1441 aaaataagta caaagtaaat cttgaacagg ttcactaagc acccaccctg tgaaaagtat
     1501 tatggaaatc actgcagcac aggaaaagta attcagatgt taatgccact tgaagaagtt
     1561 ggtaggctag caaagaggat gagacatgaa ctgtcataaa ggactcagca accagccagg
     1621 gacagataaa gcgctatgga aaggggcttc caagttcttt tgaacatgac ccttagtaac
     1681 aaacacaatt tatataatga cccagcaaaa cacatcacat cttactgtcg aaattaaatg
     1741 tgtgatccat cctagtattt tctgttccat tccttttcat tctatttcat ttataaaaca
     1801 tgctagttga gacttttcaa atggattttt atgacccact actgggtttg gatccacagt
     1861 ttgaaaaata ttgctacaag acacttaagg agaccatcct gtttaagttt attcttataa
     1921 gtaggtcagt catatgagac ctgatcaata aatatccaat acccagagtc ctgctctcag
     1981 agttcttctg tttcgtgacc cacttttcta ccagtaaaag acatagacca atggggagga
     2041 ggggaggaga gatggatatt tcagccctct ccatcctagt caacactgga tccacctagt
     2101 gcctctgggc cataaggctg agcagagtga gcttgtatta gttggtagct tttaaaaaat
     2161 ataataaaaa aaaagtagag attctccaaa ctctagcctg gtttcctaga ttgagaacta
     2221 tgatattttt ctctgataat ttaatatcta ctctcctaca aaagctcaag cctgaagata
     2281 caagactatt agaagaaaca tgactaccct cagtgtatta gaaaagaggt catgcagctt
     2341 tctaaacatt attgaattgt ttgagctgtt ttgaaattgt aattcttttc agctattaaa
     2401 aagaagagca atgagaaaaa aaaaaaaaaa aaaaaa
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_005368. Homo sapiens myog...[gi:4885476] Links  


LOCUS       MB                      1066 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens myoglobin (MB), mRNA.
ACCESSION   NM_005368
VERSION     NM_005368.1  GI:4885476
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1066)
  AUTHORS   Herrera,A.E. and Lehmann,H.
  TITLE     Primary structure of human myoglobin
  JOURNAL   Nature New Biol. 232 (31), 149-152 (1971)
  MEDLINE   71291923
   PUBMED   5285572
REFERENCE   2  (bases 1 to 1066)
  AUTHORS   Weller,P., Jeffreys,A.J., Wilson,V. and Blanchetot,A.
  TITLE     Organization of the human myoglobin gene
  JOURNAL   EMBO J. 3 (2), 439-446 (1984)
  MEDLINE   84182508
   PUBMED   6571704
REFERENCE   3  (bases 1 to 1066)
  AUTHORS   Jeffreys,A.J., Wilson,V., Blanchetot,A., Weller,P., Geurts van
            Kessel,A., Spurr,N., Solomon,E. and Goodfellow,P.
  TITLE     The human myoglobin gene: a third dispersed globin locus in the
            human genome
  JOURNAL   Nucleic Acids Res. 12 (7), 3235-3243 (1984)
  MEDLINE   84193192
   PUBMED   6326055
REFERENCE   4  (bases 1 to 1066)
  AUTHORS   Akaboshi,E.
  TITLE     Cloning of the human myoglobin gene
  JOURNAL   Gene 33 (3), 241-249 (1985)
  MEDLINE   85232026
   PUBMED   2989088
REFERENCE   5  (bases 1 to 1066)
  AUTHORS   Suzuki,T. and Imai,K.
  TITLE     Evolution of myoglobin
  JOURNAL   Cell Mol. Life Sci. 54 (9), 979-1004 (1998)
  MEDLINE   99007752
   PUBMED   9791540
REFERENCE   6  (bases 1 to 1066)
  AUTHORS   Witting,P.K., Douglas,D.J. and Mauk,A.G.
  TITLE     Reaction of human myoglobin and H2O2. Involvement of a thiyl
            radical produced at cysteine 110
  JOURNAL   J. Biol. Chem. 275 (27), 20391-20398 (2000)
  MEDLINE   20347119
   PUBMED   10779502
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X00371.1, X00372.1 and
            X00373.1.
            Summary: The human myoglobin gene is 10.4 kb long and has a three
            exon/two intron structure with long non-coding regions. It encodes
            the protein myoglobin, which is a haemoprotein contributing to
            intracellular oxygen storage and transcellular facilitated
            diffusion of oxygen. Myoglobin is a member of the globin
            superfamily and present in skeletal and cardiac muscle.
FEATURES             Location/Qualifiers
     source          1..1066
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     gene            1..1066
                     /gene="MB"
                     /note="PVALB"
                     /db_xref="LocusID:4151"
                     /db_xref="MIM:160000"
     CDS             71..535
                     /gene="MB"
                     /codon_start=1
                     /product="myoglobin"
                     /protein_id="NP_005359.1"
                     /db_xref="GI:4885477"
                     /db_xref="LocusID:4151"
                     /db_xref="MIM:160000"
                     /translation="MGLSDGEWQLVLNVWGKVEADIPGHGQEVLIRLFKGHPETLEKF
                     DKFKHLKSEDEMKASEDLKKHGATVLTALGGILKKKGHHEAEIKPLAQSHATKHKIPV
                     KYLEFISECIIQVLQSKHPGDFGADAQGAMNKALELFRKDMASNYKELGFQG"
     misc_feature    80..514
                     /gene="MB"
                     /note="Region: pfam00042, globin, Globin"
     variation       244
                     /gene="MB"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:7293"
     variation       274
                     /gene="MB"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:7292"
     variation       825
                     /gene="MB"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1056680"
     polyA_signal    1044..1049
                     /gene="MB"
     polyA_site      1066
                     /gene="MB"
BASE COUNT      237 a    278 c    309 g    242 t
ORIGIN      
        1 accccagctg ttggggccag gacacccagt gagcccatac ttgctctttt tgtcttcttc
       61 agactgcgcc atggggctca gcgacgggga atggcagttg gtgctgaacg tctgggggaa
      121 ggtggaggct gacatcccag gccatgggca ggaagtcctc atcaggctct ttaagggtca
      181 cccagagact ctggagaagt ttgacaagtt caagcacctg aagtcagagg acgagatgaa
      241 ggcatctgag gacttaaaga agcatggtgc cactgtgctc accgccctgg gtggcatcct
      301 taagaagaag gggcatcatg aggcagagat taagcccctg gcacagtcgc atgccaccaa
      361 gcacaagatc cccgtgaagt acctggagtt catctcggaa tgcatcatcc aggttctgca
      421 gagcaagcat cccggggact ttggtgctga tgcccagggg gccatgaaca aggccctgga
      481 gctgttccgg aaggacatgg cctccaacta caaggagctg ggcttccagg gctaggcccc
      541 tgccgctccc acccccaccc atctgggccc cgggttcaag agagagcggg gtctgatctc
      601 gtgtagccat atagagtttg cttctgagtg tctgctttgt ttagtagagg tgggcaggag
      661 gagctgaggg gctggggctg gggtgttgaa gttggctttg catgcccagc gatgcgcctc
      721 cctgtgggat gtcatcaccc tgggaaccgg gagtgccctt ggctcactgt gttctgcatg
      781 gtttggatct gaattaattg tcctttcttc taaatcccaa ccgaacttct tccaacctcc
      841 aaactggctg taaccccaaa tccaagccat taactacacc tgacagtagc aattgtctga
      901 ttaatcactg gccccttgaa gacagcagaa tgtccctttg caatgaggag gagatctggg
      961 ctgggcgggc cagctgggga agcatttgac tatctggaac ttgtgtgtgc ctcctcaggt
     1021 atggcagtga ctcacctggt tttaataaaa caacctgcaa catctc
//



Revised: July 5, 2002.
 
 


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1: NM_005123. Homo sapiens nucl...[gi:4826979] Links  


LOCUS       NR1H4                   2218 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens nuclear receptor subfamily 1, group H, member 4
            (NR1H4), mRNA.
ACCESSION   NM_005123
VERSION     NM_005123.1  GI:4826979
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2218)
  AUTHORS   Forman,B.M., Goode,E., Chen,J., Oro,A.E., Bradley,D.J.,
            Perlmann,T., Noonan,D.J., Burka,L.T., McMorris,T., Lamph,W.W. et
            al.
  TITLE     Identification of a nuclear receptor that is activated by farnesol
            metabolites
  JOURNAL   Cell 81 (5), 687-693 (1995)
  MEDLINE   95292336
   PUBMED   7774010
REFERENCE   2  (bases 1 to 2218)
  AUTHORS   Zavacki,A.M., Lehmann,J.M., Seol,W., Willson,T.M., Kliewer,S.A. and
            Moore,D.D.
  TITLE     Activation of the orphan receptor RIP14 by retinoids
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 94 (15), 7909-7914 (1997)
  MEDLINE   97368291
   PUBMED   9223286
REFERENCE   3  (bases 1 to 2218)
  AUTHORS   Makishima,M., Okamoto,A.Y., Repa,J.J., Tu,H., Learned,R.M., Luk,A.,
            Hull,M.V., Lustig,K.D., Mangelsdorf,D.J. and Shan,B.
  TITLE     Identification of a nuclear receptor for bile acids
  JOURNAL   Science 284 (5418), 1362-1365 (1999)
  MEDLINE   99269275
   PUBMED   10334992
REFERENCE   4  (bases 1 to 2218)
  AUTHORS   Parks,D.J., Blanchard,S.G., Bledsoe,R.K., Chandra,G., Consler,T.G.,
            Kliewer,S.A., Stimmel,J.B., Willson,T.M., Zavacki,A.M., Moore,D.D.
            and Lehmann,J.M.
  TITLE     Bile acids: natural ligands for an orphan nuclear receptor
  JOURNAL   Science 284 (5418), 1365-1368 (1999)
  MEDLINE   99269276
   PUBMED   10334993
REFERENCE   5  (bases 1 to 2218)
  AUTHORS   Papetti,M., Wood,N., Lohmar,P.D. and Bowman,M.R.
  TITLE     The Identification of the cDNA Coding for HRR-1, a Novel Human
            Farnesol Receptor
  JOURNAL   Unpublished
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from U68233.1.
FEATURES             Location/Qualifiers
     source          1..2218
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.1"
     gene            1..2218
                     /gene="NR1H4"
                     /note="BAR; FXR; HRR1; RIP14"
                     /db_xref="LocusID:9971"
                     /db_xref="MIM:603826"
     CDS             354..1772
                     /gene="NR1H4"
                     /note="FXR; retinoid receptor"
                     /codon_start=1
                     /product="nuclear receptor subfamily 1, group H, member 4"
                     /protein_id="NP_005114.1"
                     /db_xref="GI:4826980"
                     /db_xref="LocusID:9971"
                     /db_xref="MIM:603826"
                     /translation="MGSKMNLIEHSHLPTTDEFSFSENLFGVLTEQVAGPLGQNLEVE
                     PYSQYSNVQFPQVQPQISSSSYYSNLGFYPQQPEEWYSPGIYELRRMPAETLYQGETE
                     VAEMPVTKKPRMGASAGRIKGDELCVVCGDRASGYHYNALTCEGCKGFFRRSITKNAV
                     YKCKNGGNCVMDMYMRRKCQECRLRKCKEMGMLAECLLTEIQCKSKRLRKNVKQHADQ
                     TVNEDSEGRDLRQVTSTTKSCREKTELTPDQQTLLHFIMDSYNKQRMPQEITNKILKE
                     EFSAEENFLILTEMATNHVQVLVEFTKKLPGFQTLDHEDQIALLKGSAVEAMFLRSAE
                     IFNKKLPSGHSDLLEERIRNSGISDEYITPMFSFYKSIGELKMTQEEYALLTAIVILS
                     PDRQYIKDREAVEKLQEPLLDVLQKLCKIHQPENPQHFACLLGRLTELRTFNHHHAEM
                     LMSWRVNDHKFTPLLCEIWDVQ"
     misc_feature    723..938
                     /gene="NR1H4"
                     /note="Region: smart00399, ZnF_C4, c4 zinc finger in
                     nuclear hormone receptors"
     misc_feature    726..953
                     /gene="NR1H4"
                     /note="Region: pfam00105, zf-C4, Zinc finger, C4 type (two
                     domains). In nearly all cases, this is the DNA binding
                     domain of a nuclear hormone receptor. The alignment
                     contains two Zinc finger domains that are too dissimilar
                     to be aligned with each other"
     misc_feature    1218..1679
                     /gene="NR1H4"
                     /note="Region: smart00430, HOLI, Ligand binding domain of
                     hormone receptors"
     misc_feature    1227..1760
                     /gene="NR1H4"
                     /note="Region: pfam00104, hormone_rec, Ligand-binding
                     domain of nuclear hormone receptor. This all helical
                     domain is involved in binding the hormone in these
                     receptors"
     polyA_signal    2124..2129
                     /gene="NR1H4"
BASE COUNT      741 a    423 c    458 g    596 t
ORIGIN      
        1 acgagactct ctcctcctcc tcacctcatt gtctccccga cttatcctaa tgcgaaattg
       61 gattctgagc atttgtagca aaatcgctgg gatctggaga ggaagactca gtccagaatc
      121 ctcccagggc cttgaaagtc catctctgac ccaaaacaat ccaaggaggt agaagacatc
      181 gtagaaggag tgaaagaaga aaagaagact tagaaacata gctcaaagtg aacactgctt
      241 ctcttagttt cctggatttc ttctggacat ttcctcaaga tgaaacttca gacactttgg
      301 agtttttttt gaagaccacc ataaagaaag tgcatttcaa ttgaaaaatt tggatgggat
      361 caaaaatgaa tctcattgaa cattcccatt tacctaccac agatgaattt tctttttctg
      421 aaaatttatt tggtgtttta acagaacaag tggcaggtcc tctgggacag aacctggaag
      481 tggaaccata ctcgcaatac agcaatgttc agtttcccca agttcaacca cagatttcct
      541 cgtcatccta ttattccaac ctgggtttct acccccagca gcctgaagag tggtactctc
      601 ctggaatata tgaactcagg cgtatgccag ctgagactct ctaccaggga gaaactgagg
      661 tagcagagat gcctgtaaca aagaagcccc gcatgggcgc gtcagcaggg aggatcaaag
      721 gggatgagct gtgtgttgtt tgtggagaca gagcctctgg ataccactat aatgcactga
      781 cctgtgaggg gtgtaaaggt ttcttcagga gaagcattac caaaaacgct gtgtacaagt
      841 gtaaaaacgg gggcaactgt gtgatggata tgtacatgcg aagaaagtgt caagagtgtc
      901 gactaaggaa atgcaaagag atgggaatgt tggctgaatg cttgttaact gaaattcagt
      961 gtaaatctaa gcgactgaga aaaaatgtga agcagcatgc agatcagacc gtgaatgaag
     1021 acagtgaagg tcgtgacttg cgacaagtga cctcgacaac aaagtcatgc agggagaaaa
     1081 ctgaactcac cccagatcaa cagactcttc tacattttat tatggattca tataacaaac
     1141 agaggatgcc tcaggaaata acaaataaaa ttttaaaaga agaattcagt gcagaagaaa
     1201 attttctcat tttgacggaa atggcaacca atcatgtaca ggttcttgta gaattcacaa
     1261 aaaagctacc aggatttcag actttggacc atgaagacca gattgctttg ctgaaagggt
     1321 ctgcggttga agctatgttc cttcgttcag ctgagatttt caataagaaa cttccgtctg
     1381 ggcattctga cctattggaa gaaagaattc gaaatagtgg tatctctgat gaatatataa
     1441 cacctatgtt tagtttttat aaaagtattg gggaactgaa aatgactcaa gaggagtatg
     1501 ctctgcttac agcaattgtt atcctgtctc cagatagaca atacataaag gatagagagg
     1561 cagtagagaa gcttcaggag ccacttcttg atgtgctaca aaagttgtgt aagattcacc
     1621 agcctgaaaa tcctcaacac tttgcctgtc tcctgggtcg cctgactgaa ttacggacat
     1681 tcaatcatca ccacgctgag atgctgatgt catggagagt aaacgaccac aagtttaccc
     1741 cacttctctg tgaaatctgg gacgtgcagt gatggggatt acaggggagg ggtctagctc
     1801 ctttttctct ctcatattaa tctgatgtat aactttcctt tatttcactt gtacccagtt
     1861 tcactcaaga aatcttgatg aatatttatg ttgtaattac atgtgtaact tccacaactg
     1921 taaatattgg gctagataga acaactttct ctacattgtg ttttaaaagg ctccagggaa
     1981 tcctgcattc taattggcaa gccctgtttg cctaattaaa ttgattgtta cttcaattct
     2041 atctgttgaa ctagggaaaa tctcattttg ctcatcttac catattgcat atattttatt
     2101 aaagagttgt attcaatctt ggcaataaag caaacataat ggcaacagaa aaaaaaaaaa
     2161 aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaa
//




&&&&&&&&&&&

 
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   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene  for        
 
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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001976. Homo sapiens enol...[gi:16554590] Links  


LOCUS       ENO3                    1494 bp    mRNA    linear   PRI 31-OCT-2001
DEFINITION  Homo sapiens enolase 3, (beta, muscle) (ENO3), transcript variant
            1, mRNA.
ACCESSION   NM_001976
VERSION     NM_001976.2  GI:16554590
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1494)
  AUTHORS   Peshavaria,M., Hinks,L.J. and Day,I.N.
  TITLE     Structure of human muscle (beta) enolase mRNA and protein deduced
            from a genomic clone
  JOURNAL   Nucleic Acids Res. 17 (21), 8862 (1989)
  MEDLINE   90067857
   PUBMED   2587223
REFERENCE   2  (bases 1 to 1494)
  AUTHORS   Cali,L., Feo,S., Oliva,D. and Giallongo,A.
  TITLE     Nucleotide sequence of a cDNA encoding the human muscle-specific
            enolase (MSE)
  JOURNAL   Nucleic Acids Res. 18 (7), 1893 (1990)
  MEDLINE   90245587
   PUBMED   2336366
REFERENCE   3  (bases 1 to 1494)
  AUTHORS   Giallongo,A., Venturella,S., Oliva,D., Barbieri,G., Rubino,P. and
            Feo,S.
  TITLE     Structural features of the human gene for muscle-specific enolase.
            Differential splicing in the 5'-untranslated sequence generates two
            forms of mRNA
  JOURNAL   Eur. J. Biochem. 214 (2), 367-374 (1993)
  MEDLINE   93292497
   PUBMED   8513787
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X51957.1 and X56832.1.
            On Oct 31, 2001 this sequence version replaced gi:4503572.
            Summary: This gene encodes one of the three enolase isoenzymes
            found in mammals. This isoenzyme, a homodimer, is found in skeletal
            muscle cells in the adult. A switch from alpha enolase to beta
            enolase occurs in muscle tissue during development in rodents.
            Mutations in this gene can be associated with metabolic myopathies
            that may result from decreased stability of the enzyme. Two
            transcripts have been identified for this gene that differ only in
            their 5' UTR.
            Transcript Variant: This variant (1) is the longer, less abundant
            transcript that differs from variant 2 by containing a complete
            first exon.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1494
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17pter-p11"
     gene            1..1494
                     /gene="ENO3"
                     /note="MSE"
                     /db_xref="LocusID:2027"
                     /db_xref="MIM:131370"
     misc_feature    65..106
                     /gene="ENO3"
                     /note="Region: portion of exon 1 missing in shorter
                     transcript"
     CDS             109..1413
                     /gene="ENO3"
                     /EC_number="4.2.1.11"
                     /note="enolase-3, beta, muscle; muscle specific enolase;
                     beta enolase; skeletal muscle enolase;
                     2-phospho-D-glycerate hydrolyase"
                     /codon_start=1
                     /product="enolase 3"
                     /protein_id="NP_001967.1"
                     /db_xref="GI:4503573"
                     /db_xref="LocusID:2027"
                     /db_xref="MIM:131370"
                     /db_xref="LocusID:2027"
                     /db_xref="MIM:131370"
                     /translation="MAMQKIFAREILDSRGNPTVEVDLHTAKGRFRAAVPSGASTGIY
                     EALELRDGDKGRYLGKGVLKAVENINNTLGPALLQKKLSVADQEKVDKFMIELDGTEN
                     KSKFGANAILGVSLAVCKAGAAEKGVPLYRHIADLAGNPDLILPVPAFNVINGGSHAG
                     NKLAMQEFMILPVGASSFKEAMRIGAEVYHHLKGVIKAKYGKDATNVGDEGGFAPNIL
                     ENNEALELLKTAIQAAGYPDKVVIGMDVAASEFYRNGKYDLDFKSPDDPARHITGEKL
                     GELYKSFIKNYPVVSIEDPFDQDDWATWTSFLSGVNIQIVGDDLTVTNPKRIAQAVEK
                     KACNCLLLKVNQIGSVTESIQACKLAQSNGWGVMVSHRSGETEDTFIADLVVGLCTGQ
                     IKTGAPCRSERLAKYNQLMRIEEALGDKAIFAGRKFRNPKAK"
     misc_feature    112..1404
                     /gene="ENO3"
                     /note="enolase; Region: Enol-ase"
                     /db_xref="CDD:pfam00113"
     variation       320
                     /gene="ENO3"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3209189"
     variation       320
                     /gene="ENO3"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2230256"
     variation       362
                     /gene="ENO3"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3194733"
     variation       362
                     /gene="ENO3"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1133199"
     variation       1101
                     /gene="ENO3"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2230257"
     polyA_signal    1474..1479
                     /gene="ENO3"
     polyA_site      1493
                     /gene="ENO3"
BASE COUNT      361 a    400 c    446 g    287 t
ORIGIN      
        1 gacactgtcc cagctgccac ctagactcgg agctccatcc aaacctccag cgaagacatc
       61 ccaggtcggg tgaatcttcc agccctgggg gtggaggtag taaaggccat ggccatgcag
      121 aaaatctttg cccgggaaat cttggactcc aggggcaacc ccacggtgga ggtggacctg
      181 cacacggcca agggccgatt ccgagcagct gtgcccagtg gggcttccac gggtatctat
      241 gaggctctgg aactaagaga cggagacaaa ggccgctacc tggggaaagg agtcctgaag
      301 gctgtggaga acatcaacaa tactctgggc cctgctctgc tgcaaaagaa actaagcgtt
      361 gcggatcaag aaaaagttga caaatttatg attgagctag atgggaccga gaataagtcc
      421 aagtttgggg ccaatgccat cctgggcgtg tccttggccg tgtgtaaggc gggagcagct
      481 gagaaggggg tccccctgta ccgccacatc gcagatctcg ctgggaaccc tgacctcata
      541 ctcccagtgc cagccttcaa tgtgatcaac gggggctccc atgctggaaa caagctggcc
      601 atgcaggagt tcatgattct gcctgtggga gccagctcct tcaaggaagc catgcgcatt
      661 ggcgccgagg tctaccacca cctcaagggg gtcatcaagg ccaagtatgg gaaggatgcc
      721 accaatgtgg gtgatgaagg tggcttcgca cccaacatcc tggagaacaa tgaggccctg
      781 gagctgctga agacggccat ccaggcggct ggttacccag acaaggtggt gatcggcatg
      841 gatgtggcag catctgagtt ctatcgcaat gggaagtacg atcttgactt caagtcgcct
      901 gatgatcccg cacggcacat cactggggag aagctcggag agctgtataa gagctttatc
      961 aagaactatc ctgtggtctc catcgaagac ccctttgacc aggatgactg ggccacttgg
     1021 acctccttcc tctcgggggt gaacatccag attgtggggg atgacttgac agtcaccaac
     1081 cccaagagga ttgcccaggc cgttgagaag aaggcctgca actgtctgct gctgaaggtc
     1141 aaccagatcg gctcggtgac cgaatcgatc caggcgtgca aactggctca gtctaatggc
     1201 tggggggtga tggtgagcca ccgctctggg gagactgagg acacattcat tgctgacctt
     1261 gtggtggggc tctgcacagg acagatcaag actggcgccc cctgccgctc ggagcgtctg
     1321 gccaaataca accaactcat gaggatcgag gaggctcttg gggacaaggc aatctttgct
     1381 ggacgcaagt tccgtaaccc gaaggccaag tgagaagctg gaggctccag gactccactg
     1441 gacagaccca ggtcttccag acctgcttcc tgaaataaac actggtgcca acca
//



Revised: July 5, 2002.
 
 


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1: NM_002353. Homo sapiens tumo...[gi:4505056] Links  


LOCUS       TACSTD2                 2805 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens tumor-associated calcium signal transducer 2
            (TACSTD2), mRNA.
ACCESSION   NM_002353
VERSION     NM_002353.1  GI:4505056
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2805)
  AUTHORS   Linnenbach,A.J., Wojcierowski,J., Wu,S.A., Pyrc,J.J., Ross,A.H.,
            Dietzschold,B., Speicher,D. and Koprowski,H.
  TITLE     Sequence investigation of the major gastrointestinal
            tumor-associated antigen gene family, GA733
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 86 (1), 27-31 (1989)
  MEDLINE   89098896
   PUBMED   2911574
REFERENCE   2  (bases 1 to 2805)
  AUTHORS   Linnenbach,A.J., Seng,B.A., Wu,S., Robbins,S., Scollon,M.,
            Pyrc,J.J., Druck,T. and Huebner,K.
  TITLE     Retroposition in a family of carcinoma-associated antigen genes
  JOURNAL   Mol. Cell. Biol. 13 (3), 1507-1515 (1993)
  MEDLINE   93180797
   PUBMED   8382772
REFERENCE   3  (bases 1 to 2805)
  AUTHORS   Fornaro,M., Dell'Arciprete,R., Stella,M., Bucci,C., Nutini,M.,
            Capri,M.G. and Alberti,S.
  TITLE     Cloning of the gene encoding Trop-2, a cell-surface glycoprotein
            expressed by human carcinomas
  JOURNAL   Int. J. Cancer 62 (5), 610-618 (1995)
  MEDLINE   95394524
   PUBMED   7665234
REFERENCE   4  (bases 1 to 2805)
  AUTHORS   Dryden,D.T., Cooper,L.P., Thorpe,P.H. and Byron,O.
  TITLE     The in vitro assembly of the EcoKI type I DNA
            restriction/modification enzyme and its in vivo implications
  JOURNAL   Biochemistry 36 (5), 1065-1076 (1997)
  MEDLINE   97185715
   PUBMED   9033396
REFERENCE   5  (bases 1 to 2805)
  AUTHORS   Ripani,E., Sacchetti,A., Corda,D. and Alberti,S.
  TITLE     Human Trop-2 is a tumor-associated calcium signal transducer
  JOURNAL   Int. J. Cancer 76 (5), 671-676 (1998)
  MEDLINE   98272255
   PUBMED   9610724
REFERENCE   6  (bases 1 to 2805)
  AUTHORS   Tsujikawa,M., Kurahashi,H., Tanaka,T., Nishida,K., Shimomura,Y.,
            Tano,Y. and Nakamura,Y.
  TITLE     Identification of the gene responsible for gelatinous drop-like
            corneal dystrophy
  JOURNAL   Nat. Genet. 21 (4), 420-423 (1999)
  MEDLINE   99206613
   PUBMED   10192395
REFERENCE   7  (bases 1 to 2805)
  AUTHORS   Nakamura,T., Nishida,K., Dota,A., Adachi,W., Yamamoto,S., Maeda,N.,
            Okada,M. and Kinoshita,S.
  TITLE     Gelatino-lattice corneal dystrophy: clinical features and
            mutational analysis
  JOURNAL   Am. J. Ophthalmol. 129 (5), 665-666 (2000)
  MEDLINE   20304354
   PUBMED   10844062
REFERENCE   8  (bases 1 to 2805)
  AUTHORS   Kinoshita,S., Nishida,K., Dota,A., Inatomi,T., Koizumi,N.,
            Elliott,A., Lewis,D., Quantock,A. and Fullwood,N.
  TITLE     Epithelial barrier function and ultrastructure of gelatinous
            drop-like corneal dystrophy
  JOURNAL   Cornea 19 (4), 551-555 (2000)
  MEDLINE   20382520
   PUBMED   10928776
REFERENCE   9  (bases 1 to 2805)
  AUTHORS   Ha,N.T., Fujiki,K., Hotta,Y., Nakayasu,K. and Kanai,A.
  TITLE     Q118X mutation of M1S1 gene caused gelatinous drop-like corneal
            dystrophy: the P501T of BIGH3 gene found in a family with
            gelatinous drop-like corneal dystrophy
  JOURNAL   Am. J. Ophthalmol. 130 (1), 119-120 (2000)
  MEDLINE   20460624
   PUBMED   11004271
REFERENCE   10 (bases 1 to 2805)
  AUTHORS   Tsujikawa,M., Tsujikawa,K., Maeda,N., Watanabe,H., Inoue,Y.,
            Mashima,Y., Shimomura,Y. and Tano,Y.
  TITLE     Rapid detection of M1S1 mutations by the protein truncation test
  JOURNAL   Invest. Ophthalmol. Vis. Sci. 41 (9), 2466-2468 (2000)
  MEDLINE   20391334
   PUBMED   10937555
REFERENCE   11 (bases 1 to 2805)
  AUTHORS   Calabrese,G., Crescenzi,C., Morizio,E., Palka,G., Guerra,E. and
            Alberti,S.
  TITLE     Assignment of TACSTD1 (alias TROP1, M4S1) to human chromosome 2p21
            and refinement of mapping of TACSTD2 (alias TROP2, M1S1) to human
            chromosome 1p32 by in situ hybridization
  JOURNAL   Cytogenet. Cell Genet. 92 (1-2), 164-165 (2001)
  MEDLINE   21203566
   PUBMED   11306819
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X77753.1.
            Summary: This intronless gene encodes a carcinoma-associated
            antigen defined by the monoclonal antibody GA733. This antigen is a
            member of a family including at least two type I membrane proteins.
            It transduces an intracellular calcium signal and acts as a cell
            surface receptor. Mutations of this gene result in gelatinous
            drop-like corneal dystrophy, an autosomal recessive disorder
            characterized by severe corneal amyloidosis leading to blindness.
FEATURES             Location/Qualifiers
     source          1..2805
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32-p31"
     gene            1..2805
                     /gene="TACSTD2"
                     /note="M1S1; EGP-1; GA733; TROP2; GA733-1"
                     /db_xref="LocusID:4070"
                     /db_xref="MIM:137290"
     variation       562
                     /gene="TACSTD2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:232835"
     variation       615
                     /gene="TACSTD2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:232836"
     CDS             616..1587
                     /gene="TACSTD2"
                     /note="membrane component, chromosome 1, surface marker 1
                     (40kD glycoprotein, identified by monoclonal antibody
                     GA733); epithelial glycoprotein-1"
                     /codon_start=1
                     /product="tumor-associated calcium signal transducer 2
                     precursor"
                     /protein_id="NP_002344.1"
                     /db_xref="GI:4505057"
                     /db_xref="LocusID:4070"
                     /db_xref="MIM:137290"
                     /translation="MARGPGLAPPPLRLPLLLLVLAAVTGHTAAQDNCTCPTNKMTVC
                     SPDGPGGRCQCRALGSGMAVDCSTLTSKCLLLKARMSAPKNARTLVRPSEHALVDNDG
                     LYDPDCDPEGRFKARQCNQTSVCWCVNSVGVRRTDKGDLSLRCDELVRTHHILIDLRH
                     RPTAGAFNHSDLDAELRRLFRERYRLHPKFVAAVHYEQPTIQIELRQNTSQKAAGEVD
                     IGDAAYYFERDIKGESLFQGRGGLDLRVRGEPLQVERTLIYYLDEIPPKFSMKRLTAG
                     LIAVIVVVVVALVAGMAVLVITNRRKSGKYKKVEIKELGELRKEPSL"
     sig_peptide     616..693
                     /gene="TACSTD2"
     mat_peptide     694..1584
                     /gene="TACSTD2"
                     /product="tumor-associated calcium signal transducer 2"
     misc_feature    694..1437
                     /gene="TACSTD2"
                     /note="Region: extracellular domain"
     misc_feature    832..1050
                     /gene="TACSTD2"
                     /note="Region: pfam00086, thyroglobulin_1, Thyroglobulin
                     type-1 repeat. Thyroglobulin type 1 repeats are thought to
                     be involved in the control of proteolytic degradation. The
                     domain usually contains six conserved cysteines. These
                     form three disulphide bridges. Cysteines 1 pairs with 2, 3
                     with 4 and 5 with 6"
     misc_feature    931..1056
                     /gene="TACSTD2"
                     /note="Region: smart00211, TY, Thyroglobulin type I
                     repeats; The N-terminal region of human thyroglobulin
                     contains 11 type-1 repeats TY repeats are proposed to be
                     inhibitors of cysteine proteases and binding partners of
                     heparin"
     misc_feature    1438..1506
                     /gene="TACSTD2"
                     /note="Region: transmembrane domain"
     misc_feature    1507..1584
                     /gene="TACSTD2"
                     /note="Region: cytoplasmic domain"
     variation       1014
                     /gene="TACSTD2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:13267"
     variation       1056
                     /gene="TACSTD2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1062964"
     variation       1263
                     /gene="TACSTD2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:14008"
     variation       1852
                     /gene="TACSTD2"
                     /allele="A"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1020"
     variation       1867
                     /gene="TACSTD2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3551"
     variation       2008
                     /gene="TACSTD2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:9583"
     variation       2224
                     /gene="TACSTD2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:7333"
     polyA_signal    2304..2309
                     /gene="TACSTD2"
     variation       2312
                     /gene="TACSTD2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1046486"
     polyA_signal    2320..2325
                     /gene="TACSTD2"
     polyA_site      2338
                     /gene="TACSTD2"
     variation       complement(2388)
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:2268943"
     polyA_signal    2793..2798
                     /gene="TACSTD2"
BASE COUNT      618 a    755 c    801 g    631 t
ORIGIN      
        1 cgggtctgat agtccctacc tgtcaggact ggtgttagga tgagataatg tttgtgaact
       61 gtaaacatat ataaacgtgt gctactgtga gaactggaac aaagaagaga gggagtgaga
      121 gaaatcaagg gagggctggg gctgggaaag aacgaaaagg gagtcgcgta tagaggagag
      181 gcgacagtcg cgagccacac tttgcaatga aactctttag actttctgcc gggagagcgg
      241 cccagacgcg ccaggtctgt agcaggaggc cgcgagggcg ggtccccaga agcctacagg
      301 tgagtatcgg ttctcccctt cccggctttc ggtccggagg aggcgggagc agcttccctg
      361 ttctgatcct atcgcgggcg gcgcagggcc ggcttggcct tccgtgggac ggggaggggg
      421 gcgggatgtg tcacccaaat accagtgggg acggtcggtg gtggaaccag ccgggcaggt
      481 cgggtagagt ataagagccg gagggagcgg ccggggcgca gacgcctgca gaccatccca
      541 gacgccggag cccgagcccc gacgagtccc cgcgcctcat ccgcccgcgt ccggtccgcg
      601 ttcctccgcc ccaccatggc tcggggcccc ggcctcgcgc cgccaccgct gcggctgccg
      661 ctgctgctgc tggtgctggc ggcggtgacc ggccacacgg ccgcgcagga caactgcacg
      721 tgtcccacca acaagatgac cgtgtgcagc cccgacggcc ccggcggccg ctgccagtgc
      781 cgcgcgctgg gctcgggcat ggcggtcgac tgctccacgc tgacctccaa gtgtctgctg
      841 ctcaaggcgc gcatgagcgc ccccaagaac gcccgcacgc tggtgcggcc gagtgagcac
      901 gcgctcgtgg acaacgatgg cctctacgac cccgactgcg accccgaggg ccgcttcaag
      961 gcgcgccagt gcaaccagac gtcggtgtgc tggtgcgtga actcggtggg cgtgcgccgc
     1021 acggacaagg gcgacctgag cctacgctgc gatgagctgg tgcgcaccca ccacatcctc
     1081 attgacctgc gccaccgccc caccgccggc gccttcaacc actcagacct ggacgccgag
     1141 ctgaggcggc tcttccgcga gcgctatcgg ctgcacccca agttcgtggc ggccgtgcac
     1201 tacgagcagc ccaccatcca gatcgagctg cggcagaaca cgtctcagaa ggccgccggt
     1261 gaagtggata tcggcgatgc cgcctactac ttcgagaggg acatcaaggg cgagtctcta
     1321 ttccagggcc gcggcggcct ggacttgcgc gtgcgcggag aacccctgca ggtggagcgc
     1381 acgctcatct attacctgga cgagattccc ccgaagttct ccatgaagcg cctcaccgcc
     1441 ggcctcatcg ccgtcatcgt ggtggtcgtg gtggccctcg tcgccggcat ggccgtcctg
     1501 gtgatcacca accggagaaa gtcggggaag tacaagaagg tggagatcaa ggaactgggg
     1561 gagttgagaa aggaaccgag cttgtaggta cccggcgggg caggggatgg ggtggggtac
     1621 cggatttcgg tatcgtccca gacccaagtg agtcacgctt cctgattcct cggcgcaaag
     1681 gagacgttta tcctttcaaa ttcctgcctt ccccctccct tttgcgcaca caccaggttt
     1741 aatagatcct ggcctcaggg tctcctttct ttctcacttc tgtcttgagg gaagcatttc
     1801 taaaatgtat cccctttcgg tccaacaaca ggaaacctga ctggggcagt gaaggaaggg
     1861 atggcacagc gttatgtgta aaaaacaagt atctgtatga caacccggga tcgtttgcaa
     1921 gtaactgaat ccattgcgac attgtgaagg cttaaatgag tttagatggg aaatagcgtt
     1981 gttatcgcct tgggtttaaa ttatttgatg agttccactt gtatcatggc ctacccgagg
     2041 agaagaggag tttgttaact gggcctatgt agtagcctca tttaccatcg tttgtattac
     2101 tgaccacata tgcttgtcac tgggaaagaa gcctgtttca gctgcctgaa cgcagtttgg
     2161 atgtctttga ggacagacat tgcccggaaa ctcagtctat ttattcttca gcttgccctt
     2221 actgccactg atattggtaa tgttcttttt tgtaaaatgt ttgtacatat gttgtctttg
     2281 ataatgttgc tgtaattttt taaaataaaa cacgaattta ataaaatatg ggaaaggcac
     2341 aaaccagaag tcggcatttg tgaaaagtcc ctccagattt ctatcacttt ggtctctaat
     2401 ttcccaagac ttgtattttt tttttatttc aaattataac actttttttt cccccagaag
     2461 tgggtgtttc atgttgctac tctggtgtgt cccaagatat cctaactggc cagtgtaaat
     2521 gctattcttt ctaaataaga ttatttggaa acttccttca aactgcagga gggcgagctc
     2581 tgagggcacg agaagctaaa actagctgct tttgatgaaa aagagtgcca gtctttggtc
     2641 atctctaaac aaggcttatc accaatggag acagaaaact ctagttcaag agctgtacct
     2701 cctttgaatc ccagccctac tcgaaataag tggtactatt tccatttagc ctttgagcaa
     2761 atcacttaac tcaaaggcgt tgtggctcta agattaaacg acttt
//



Revised: July 5, 2002.
 
 


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Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001810. Homo sapiens cent...[gi:22203108] Links  


LOCUS       CENPB                   1800 bp    mRNA    linear   PRI 07-SEP-2002
DEFINITION  Homo sapiens centromere protein B, 80kDa (CENPB), mRNA.
ACCESSION   NM_001810
VERSION     NM_001810.3  GI:22203108
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1800)
  AUTHORS   Earnshaw,W.C., Sullivan,K.F., Machlin,P.S., Cooke,C.A.,
            Kaiser,D.A., Pollard,T.D., Rothfield,N.F. and Cleveland,D.W.
  TITLE     Molecular cloning of cDNA for CENP-B, the major human centromere
            autoantigen
  JOURNAL   J. Cell Biol. 104 (4), 817-829 (1987)
  MEDLINE   87166180
   PUBMED   2435739
REFERENCE   2  (bases 1 to 1800)
  AUTHORS   Sullivan,K.F. and Glass,C.A.
  TITLE     CENP-B is a highly conserved mammalian centromere protein with
            homology to the helix-loop-helix family of proteins
  JOURNAL   Chromosoma 100 (6), 360-370 (1991)
  MEDLINE   91372020
   PUBMED   1893793
REFERENCE   3  (bases 1 to 1800)
  AUTHORS   Yoda,K., Kitagawa,K., Masumoto,H., Muro,Y. and Okazaki,T.
  TITLE     A human centromere protein, CENP-B, has a DNA binding domain
            containing four potential alpha helices at the NH2 terminus, which
            is separable from dimerizing activity
  JOURNAL   J. Cell Biol. 119 (6), 1413-1427 (1992)
  MEDLINE   93107144
   PUBMED   1469042
REFERENCE   4  (bases 1 to 1800)
  AUTHORS   Sugimoto,K., Yata,H. and Himeno,M.
  TITLE     Mapping of the human CENP-B gene to chromosome 20 and the CENP-C
            gene to chromosome 12 by a rapid cycle DNA amplification procedure
  JOURNAL   Genomics 17 (1), 240-242 (1993)
  MEDLINE   94010896
   PUBMED   8406460
REFERENCE   5  (bases 1 to 1800)
  AUTHORS   Seki,N., Saito,T., Kitagawa,K., Masumoto,H., Okazaki,T. and
            Hori,T.A.
  TITLE     Mapping of the human centromere protein B gene (CENPB) to
            chromosome 20p13 by fluorescence in situ hybridization
  JOURNAL   Genomics 24 (1), 187-188 (1994)
  MEDLINE   95203879
   PUBMED   7896278
REFERENCE   6  (bases 1 to 1800)
  AUTHORS   Kitagawa,K., Masumoto,H., Ikeda,M. and Okazaki,T.
  TITLE     Analysis of protein-DNA and protein-protein interactions of
            centromere protein B (CENP-B) and properties of the DNA-CENP-B
            complex in the cell cycle
  JOURNAL   Mol. Cell. Biol. 15 (3), 1602-1612 (1995)
  MEDLINE   95166245
   PUBMED   7862152
REFERENCE   7  (bases 1 to 1800)
  AUTHORS   Ando,S., Yang,H., Nozaki,N., Okazaki,T. and Yoda,K.
  TITLE     CENP-A, -B, and -C chromatin complex that contains the I-type
            alpha-satellite array constitutes the prekinetochore in HeLa cells
  JOURNAL   Mol. Cell. Biol. 22 (7), 2229-2241 (2002)
  MEDLINE   21881955
   PUBMED   11884609
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL109804.41.
            On Aug 10, 2002 this sequence version replaced gi:22202609.
            Summary: This gene product is a highly conserved protein associated
            with the centromere. It is a DNA-binding protein containing a
            helix-loop-helix DNA binding motif at the N-terminus, and a
            dimerization domain at the C-terminus. The DNA binding domain
            recognizes and binds a 17-bp sequence (CENP-B box) in the
            centromeric satellite DNA. This protein is proposed to play an
            important role in the assembly of specific centromere structures in
            interphase nuclei and on mitotic chromosomes. It is also considered
            a major centromere autoantigen recognized by sera from patients
            with anti-centromere antibodies.
FEATURES             Location/Qualifiers
     source          1..1800
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
                     /cell_type="peripheral lymphocytes"
                     /clone_lib="lambda EMBL 3 genomic"
     gene            1..1800
                     /gene="CENPB"
                     /db_xref="LocusID:1059"
                     /db_xref="MIM:117140"
     CDS             1..1800
                     /gene="CENPB"
                     /note="centromere protein B (80kD); centromere autoantigen
                     B"
                     /codon_start=1
                     /product="centromere protein B"
                     /protein_id="NP_001801.1"
                     /db_xref="GI:21735415"
                     /db_xref="LocusID:1059"
                     /db_xref="MIM:117140"
                     /translation="MGPKRRQLTFREKSRIIQEVEENPDLRKGEIARRFNIPPSTLST
                     ILKNKRAILASERKYGVASTCRKTNKLSPYDKLEGLLIAWFQQIRAAGLPVKGIILKE
                     KALRIAEELGMDDFTASNGWLDRFRRRHGVVSCSGVARARARNAAPRTPAAPASPAAV
                     PSEGSGGSTTGWRAREEQPPSVAEGYASQDVFSATETSLWYDFLPDQAAGLCGGDGRP
                     RQATQRLSVLLCANADGSEKLPPLVAGKSAKPRAGQAGLPCDYTANSKGGVTTQALAK
                     YLKALDTRMAAESRRVLLLAGRLAAQSLDTSGLRHVQLAFFPPGTVHPLERGVVQQVK
                     GHYRQAMLLKAMAALEGQDPSGLQLGLTEALHFVAAAWQAVEPSDIAACFREAGFGGG
                     PNATITTSLKSEGEEEEEEEEEEEEEEGEGEEEEEEGEEEEEEGGEGEELGEEEEVEE
                     EGDVDSDEEEEEDEESSSEGLEAEDWAQGVVEAGGSFGAYGAQEEAQCPTLHFLEGGE
                     DSDSDSEEEDDEEEDDEDEDDDDDEEDGDEVPVPSFGEAMAYFAMVKRYLTSFPIDDR
                     VQSHILHLEHDLVHVTRKNHARQAGVRGLGHQS"
     misc_feature    7..402
                     /gene="CENPB"
                     /note="Region: pfam03221, Transposase_Tc5, Tc5
                     transposase"
     misc_feature    220..405
                     /gene="CENPB"
                     /note="Region: smart00674, CENPB, Putative DNA-binding
                     domain in centromere protein B, mouse jerky and
                     transposases"
     misc_feature    610..1173
                     /gene="CENPB"
                     /note="Region: pfam03184, CENP-B, CENP-B protein.
                     Centromere Protein B (CENP-B) is a DNA-binding protein
                     localized to the centromere. Within the N-terminal 125
                     residues, there is a DNA-binding domain, which binds to a
                     corresponding 17bp CENP-B box sequence. In the C-terminal
                     59 residues, CENP-B has a dimerization domain. CENP-B
                     dimers either bind two separate DNA molecules or
                     alternatively, they may bind two CENP-B boxes on one DNA
                     molecule, with the intervening stretch of DNA forming a
                     loop structure. The CENP-B DNA-binding domain consists of
                     two repeating units, RP1 and RP2. RP1 has been shown to
                     consist of four helices in a helix- turn-helix structure"
     conflict        1748
                     /gene="CENPB"
                     /citation=[1]
                     /replace="t"
     conflict        1774
                     /gene="CENPB"
                     /citation=[1]
                     /replace="c"
     conflict        1778
                     /gene="CENPB"
                     /citation=[1]
                     /replace="t"
BASE COUNT      359 a    515 c    654 g    272 t
ORIGIN      
        1 atgggcccca agaggcgaca gctgacgttc cgggagaagt cacggatcat ccaggaggtg
       61 gaggagaatc cggacctgcg caagggcgag atcgcgcggc gcttcaacat cccgccgtcc
      121 acgctgagca cgatcctgaa gaacaagcgc gccatcctgg cgtcggagcg caagtacggg
      181 gtggcctcca cctgccgcaa gaccaacaag ctgtctccct acgacaagct cgagggcttg
      241 ctcatcgcct ggttccagca gatccgcgcc gccggcctgc cggtcaaggg catcatcctc
      301 aaggagaagg cgctgcgcat agccgaggag ctgggcatgg acgacttcac cgcctccaac
      361 ggctggctgg accgcttccg ccggcgccac ggcgtggtgt cctgcagcgg cgtggcccgc
      421 gcccgcgcgc gaaacgctgc cccccgcacc ccggcggcgc ctgccagtcc ggccgcggtg
      481 ccctcggagg gcagtggcgg gagcactact ggttggcgcg ctcgggagga gcagccgccg
      541 tcggtggccg agggctacgc ctcgcaggac gtgttcagcg ccaccgagac cagtctatgg
      601 tacgacttcc tgcccgacca ggccgcgggg ctgtgcggag gcgacggacg gccgcgtcaa
      661 gccacccagc gcctgagcgt cctgctatgc gccaatgccg acggcagcga gaagctgccc
      721 ccgctggtgg ccggcaagtc ggccaagccc cgcgcaggcc aagccggcct gccctgcgac
      781 tacaccgcca actccaaggg tggtgtcacc acccaggccc tggccaagta cttgaaggcc
      841 ttggacaccc gaatggctgc agagtctcgc cgggtcctgc tgttggccgg ccgcttggct
      901 gcccagtcct tggacacctc gggcctgcgg catgtgcagc tggccttctt ccctcccggc
      961 accgtgcatc cgctggagag gggagtggtc cagcaggtga agggccacta ccgccaggcc
     1021 atgctgctca aggccatggc cgcgctagag ggccaggatc cctcaggcct gcagctgggt
     1081 ctcacggagg ccctgcactt tgtggctgcc gcctggcagg cagtggagcc ttcggacata
     1141 gccgcctgct ttcgtgaggc tggctttggg ggtggcccta atgccaccat caccacttcc
     1201 ctcaagagtg agggagagga agaggaggag gaggaggaag aagaggagga ggaagagggt
     1261 gaaggagagg aagaggagga ggaaggggag gaggaggagg aggaaggggg ggaaggagag
     1321 gaattggggg aggaagagga ggtggaggag gagggtgatg ttgatagtga tgaagaagag
     1381 gaggaagatg aggagagctc ctcggagggc ttggaggctg aggactgggc ccagggagta
     1441 gtggaggccg gtggcagctt cggggcttat ggtgcccagg aggaagccca gtgccctact
     1501 ctgcatttcc tggaaggtgg ggaggactct gattcagaca gtgaggaaga ggacgatgag
     1561 gaagaggatg atgaagatga agacgacgat gatgatgagg aggatggtga tgaggtgcct
     1621 gtacccagct ttggggaggc catggcttac tttgccatgg tcaagaggta cctgacctcc
     1681 ttccccattg atgaccgcgt gcagagccac atcctccact tggaacacga tctggttcat
     1741 gtgaccagga agaaccacgc caggcaggcg ggagttcgag gtcttggaca tcaaagctga
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

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&&&&&&&


    
 
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   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene  for        
 
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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_004320. Homo sapiens ATPa...[gi:10835219] Links  


LOCUS       ATP2A1                  3082 bp    mRNA    linear   PRI 31-AUG-2001
DEFINITION  Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch
            1 (ATP2A1), mRNA.
ACCESSION   NM_004320
VERSION     NM_004320.1  GI:10835219
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3082)
  AUTHORS   Callen,D.F., Baker,E., Lane,S., Nancarrow,J., Thompson,A.,
            Whitmore,S.A., MacLennan,D.H., Berger,R., Cherif,D., Jarvela,I. et
            al.
  TITLE     Regional mapping of the Batten disease locus (CLN3) to human
            chromosome 16p12
  JOURNAL   Am. J. Hum. Genet. 49 (6), 1372-1377 (1991)
  MEDLINE   92081784
   PUBMED   1746562
REFERENCE   2  (bases 1 to 3082)
  AUTHORS   Zhang,Y., Fujii,J., Phillips,M.S., Chen,H.S., Karpati,G., Yee,W.C.,
            Schrank,B., Cornblath,D.R., Boylan,K.B. and MacLennan,D.H.
  TITLE     Characterization of cDNA and genomic DNA encoding SERCA1, the
            Ca(2+)-ATPase of human fast-twitch skeletal muscle sarcoplasmic
            reticulum, and its elimination as a candidate gene for Brody
            disease
  JOURNAL   Genomics 30 (3), 415-424 (1995)
  MEDLINE   96423024
   PUBMED   8825625
REFERENCE   3  (bases 1 to 3082)
  AUTHORS   Odermatt,A., Taschner,P.E., Khanna,V.K., Busch,H.F., Karpati,G.,
            Jablecki,C.K., Breuning,M.H. and MacLennan,D.H.
  TITLE     Mutations in the gene-encoding SERCA1, the fast-twitch skeletal
            muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with
            Brody disease
  JOURNAL   Nat. Genet. 14 (2), 191-194 (1996)
  MEDLINE   96438858
   PUBMED   8841193
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from U96781.1.
FEATURES             Location/Qualifiers
     source          1..3082
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.1"
     gene            1..3082
                     /gene="ATP2A1"
                     /note="SERCA1; ATP2A"
                     /db_xref="LocusID:487"
                     /db_xref="MIM:108730"
     CDS             1..2985
                     /gene="ATP2A1"
                     /note="SERCA1b"
                     /codon_start=1
                     /product="ATPase, Ca++ transporting, fast twitch 1"
                     /protein_id="NP_004311.1"
                     /db_xref="GI:10835220"
                     /db_xref="LocusID:487"
                     /db_xref="MIM:108730"
                     /translation="MEAAHAKTTEECLAYFGVSETTGLTPDQVKRNLEKYGLNELPAE
                     EGKTLWELVIEQFEDLLVRILLLAACISFVLAWFEEGEETITAFVEPFVILLILIANA
                     IVGVWQERNAENAIEALKEYEPEMGKVYRADRKSVQRIKARDIVPGDIVEVAVGDKVP
                     ADIRILAIKSTTLRVDQSILTGESVSVIKHTEPVPDPRAVNQDKKNMLFSGTNIAAGK
                     ALGIVATTGVGTEIGKIRDQMAATEQDKTPLQQKLDEFGEQLSKVISLICVAVWLINI
                     GHFNDPVHGGSWFRGAIYYFKIAVALAVAAIPEGLPAVITTCLALGTRRMAKKNAIVR
                     SLPSVETLGCTSVICSDKTGTLTTNQMSVCKMFIIDKVDGDICLLNEFSITGSTYAPE
                     GEVLKNDKPVRPGQYDGLVELATICALCNDSSLDFNEAKGVYEKVGEATETALTTLVE
                     KMNVFNTDVRSLSKVERANACNSVIRQLMKKEFTLEFSRDRKSMSVYCSPAKSSRAAV
                     GNKMFVKGAPEGVIDRCNYVRVGTTRVPLTGPVKEKIMAVIKEWGTGRDTLRCLALAT
                     RDTPPKREEMVLDDSARFLEYETDLTFVGVVGMLDPPRKEVTGSIQLCRDAGIRVIMI
                     TGDNKGTAIAICRRIGIFGENEEVADRAYTGREFDDLPLAEQREACRRACCFARVEPS
                     HKSKIVEYLQSYDEITAMTGDGVNDAPALKKAEIGIAMGSGTAVAKTASEMVLADDNF
                     STIVAAVEEGRAIYNNMKQFIRYLISSNVGEVVCIFLTAALGLPEALIPVQLLWVNLV
                     TDGLPATALGFNPPDLDIMDRPPRSPKEPLISGWLFFRYMAIGGYVGAATVGAAAWWF
                     LYAEDGPHVNYSQLTHFMQCTEDNTHFEGIDCEVFEAPEPMTMALSVLVTIEMCNALN
                     SLSENQSLLRMPPWVNIWLLGSICLSMSLHFLILYVDPLPMIFKLRALDLTQWLMVLK
                     ISLPVIGLDEILKFVARNYLEG"
     misc_feature    7..231
                     /gene="ATP2A1"
                     /note="Cation_ATPase_N; Region: Cation transporter/ATPase"
                     /db_xref="CDD:pfam00690"
     misc_feature    301..1023
                     /gene="ATP2A1"
                     /note="E1-E2_ATPase; Region: E1-E2 ATPase"
                     /db_xref="CDD:pfam00122"
     misc_feature    1648..2172
                     /gene="ATP2A1"
                     /note="Hydrolase; Region: haloacid dehalogenase-like
                     hydrolase"
                     /db_xref="CDD:pfam00702"
     misc_feature    2452..2979
                     /gene="ATP2A1"
                     /note="Cation_ATPase_C; Region: Cation transporting
                     ATPase"
                     /db_xref="CDD:pfam00689"
     variation       3049
                     /gene="ATP2A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1800835"
     variation       3049
                     /gene="ATP2A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1137096"
     variation       3049
                     /gene="ATP2A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3200838"
BASE COUNT      646 a    914 c    892 g    630 t
ORIGIN      
        1 atggaggccg ctcatgctaa aaccacggag gaatgtttgg cctattttgg ggtgagtgag
       61 accacgggcc tcaccccgga ccaagttaag cggaatctgg agaaatacgg cctcaatgag
      121 ctccctgctg aggaagggaa gaccctgtgg gagctggtga tagagcagtt tgaagacctc
      181 ctggtgcgga ttctcctcct ggccgcatgc atttccttcg tgctggcctg gtttgaggaa
      241 ggtgaagaga ccatcactgc ctttgttgaa ccctttgtca tcctcttgat cctcattgcc
      301 aatgccatcg tgggggtttg gcaggagcgg aacgcagaga acgccatcga ggccctgaag
      361 gagtatgagc cagagatggg gaaggtctac cgggctgacc gcaagtcagt gcaaaggatc
      421 aaggctcggg acatcgtccc tggggacatc gtggaggtgg ctgtggggga caaagtccct
      481 gcagacatcc gaatcctcgc catcaaatcc accacgctgc gggttgacca gtccatcctg
      541 acaggcgagt ctgtatctgt catcaaacac acggagcccg ttcctgaccc ccgagctgtc
      601 aaccaggaca agaagaacat gcttttctcg ggcaccaaca ttgcagccgg caaggccttg
      661 ggcatcgtgg ccaccaccgg tgtgggcacc gagattggga agatccgaga ccaaatggct
      721 gccacagaac aggacaagac ccccttgcag cagaagctgg atgagtttgg ggagcagctc
      781 tccaaggtca tctccctcat ctgtgtggct gtctggctta tcaacattgg ccacttcaac
      841 gaccccgtcc atgggggctc ctggttccgc ggggccatct actactttaa gattgccgtg
      901 gccttggctg tggctgccat ccccgaaggt cttcctgcag tcatcaccac ctgcctggcc
      961 ctgggtaccc gtcggatggc aaagaagaat gccattgtaa gaagcttgcc ctccgtagag
     1021 accctgggct gcacctctgt catctgttcc gacaagacag gcaccctcac caccaaccag
     1081 atgtctgtct gcaagatgtt tatcattgac aaggtggatg gggacatctg cctcctgaat
     1141 gagttctcca tcaccggctc cacttacgct ccagagggag aggtcttgaa gaatgataag
     1201 ccagtccggc cagggcagta tgacgggctg gtggagctgg ccaccatctg tgccctctgc
     1261 aatgactcct ccttggactt caacgaggcc aaaggtgtct atgagaaggt cggcgaggcc
     1321 accgagacag cactcaccac cctggtggag aagatgaatg tgttcaacac ggatgtgaga
     1381 agcctctcga aggtggagag agccaacgcc tgcaactcgg tgatccgcca gctaatgaag
     1441 aaggaattca ccctggagtt ctcccgagac agaaagtcca tgtctgtcta ttgctcccca
     1501 gccaaatctt cccgggctgc tgtgggcaac aagatgtttg tcaagggtgc ccctgagggc
     1561 gtcatcgacc gctgtaacta tgtgcgagtt ggcaccaccc gggtgccact gacggggccg
     1621 gtgaaggaaa agatcatggc ggtgatcaag gagtggggca ctggccggga caccctgcgc
     1681 tgcttggccc tggccacccg ggacaccccc ccgaagcgag aggaaatggt cctggatgac
     1741 tctgccaggt tcctggagta tgagacggac ctgacattcg tgggtgtagt gggcatgctg
     1801 gaccctccgc gcaaggaggt cacgggctcc atccagctgt gccgtgacgc cgggatccgg
     1861 gtgatcatga tcactgggga caacaagggc acagccattg ccatctgccg gcgaattggc
     1921 atctttgggg agaacgagga ggtggccgat cgcgcctaca cgggccgaga gttcgacgac
     1981 ctgcccctgg ctgaacagcg ggaagcctgc cgacgtgcct gctgcttcgc ccgtgtggag
     2041 ccctcgcaca agtccaagat tgtggagtac ctgcagtcct acgatgagat cacagccatg
     2101 acaggtgatg gcgtcaatga cgcccctgcc ctgaagaagg ctgagattgg cattgccatg
     2161 ggatctggca ctgccgtggc caagactgcc tctgagatgg tgctggctga cgacaacttc
     2221 tccaccatcg tagctgctgt ggaggagggc cgcgccatct acaacaacat gaagcagttc
     2281 atccgctacc tcatttcctc caacgtgggc gaggtggtct gtatcttcct gaccgctgcc
     2341 ctggggctgc ctgaggccct gatcccggtg cagctgctat gggtgaactt ggtgaccgac
     2401 gggctcccag ccacagccct gggcttcaac ccaccagacc tggacatcat ggaccgcccc
     2461 ccccggagcc ccaaggagcc cctcatcagt ggctggctct tcttccgcta catggcaatc
     2521 gggggctatg tgggtgcagc caccgtggga gcagctgcct ggtggttcct gtacgctgag
     2581 gatgggcctc atgtcaacta cagccagctg actcacttca tgcagtgcac cgaggacaac
     2641 acccactttg agggcataga ctgtgaggtc ttcgaggccc ccgagcccat gaccatggcc
     2701 ctgtccgtgc tggtgaccat cgagatgtgc aatgcactga acagcctgtc cgagaaccag
     2761 tccctgctgc ggatgccacc ctgggtgaac atctggctgc tgggctccat ctgcctctcc
     2821 atgtccctgc acttcctcat cctctatgtt gaccccctgc cgatgatctt caagctccgg
     2881 gccctggacc tcacccagtg gctcatggtc ctcaagatct cactgccagt cattgggctc
     2941 gacgaaatcc tcaagttcgt tgctcggaac tacctagagg gataactgtt ccccctcctc
     3001 catctctgag cccgtgtcac agatccagaa gatgaaagaa ggaagtgagc atccttttgc
     3061 tctgtcctcc ccaccccgat ag
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_002960. Homo sapiens S100...[gi:4506762] Links  


LOCUS       S100A3                   738 bp    mRNA    linear   PRI 20-DEC-2001
DEFINITION  Homo sapiens S100 calcium binding protein A3 (S100A3), mRNA.
ACCESSION   NM_002960
VERSION     NM_002960.1  GI:4506762
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 738)
  AUTHORS   Engelkamp,D., Schafer,B.W., Mattei,M.G., Erne,P. and Heizmann,C.W.
  TITLE     Six S100 genes are clustered on human chromosome 1q21:
            identification of two genes coding for the two previously
            unreported calcium-binding proteins S100D and S100E
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 90 (14), 6547-6551 (1993)
  MEDLINE   93342029
   PUBMED   8341667
REFERENCE   2  (bases 1 to 738)
  AUTHORS   Schafer,B.W., Wicki,R., Engelkamp,D., Mattei,M.G. and Heizmann,C.W.
  TITLE     Isolation of a YAC clone covering a cluster of nine S100 genes on
            human chromosome 1q21: rationale for a new nomenclature of the S100
            calcium-binding protein family
  JOURNAL   Genomics 25 (3), 638-643 (1995)
  MEDLINE   95278932
   PUBMED   7759097
REFERENCE   3  (bases 1 to 738)
  AUTHORS   Schafer,B.W. and Heizmann,C.W.
  TITLE     The S100 family of EF-hand calcium-binding proteins: functions and
            pathology
  JOURNAL   Trends Biochem. Sci. 21 (4), 134-140 (1996)
  MEDLINE   96273192
   PUBMED   8701470
REFERENCE   4  (bases 1 to 738)
  AUTHORS   Kizawa,K., Uchiwa,H. and Murakami,U.
  TITLE     Highly-expressed S100A3, a calcium-binding protein, in human hair
            cuticle
  JOURNAL   Biochim. Biophys. Acta 1312 (2), 94-98 (1996)
  MEDLINE   96271430
   PUBMED   8672544
REFERENCE   5  (bases 1 to 738)
  AUTHORS   Groves,P., Finn,B.E., Kuznicki,J. and Forsen,S.
  TITLE     A model for target protein binding to calcium-activated S100 dimers
  JOURNAL   FEBS Lett. 421 (3), 175-179 (1998)
  MEDLINE   98127819
   PUBMED   9468301
REFERENCE   6  (bases 1 to 738)
  AUTHORS   Ridinger,K., Ilg,E.C., Niggli,F.K., Heizmann,C.W. and Schafer,B.W.
  TITLE     Clustered organization of S100 genes in human and mouse
  JOURNAL   Biochim. Biophys. Acta 1448 (2), 254-263 (1998)
  MEDLINE   99117144
   PUBMED   9920416
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z18948.1.
            Summary: The protein encoded by this gene is a member of the S100
            family of proteins containing 2 EF-hand calcium-binding motifs.
            S100 proteins are localized in the cytoplasm and/or nucleus of a
            wide range of cells, and involved in the regulation of a number of
            cellular processes such as cell cycle progression and
            differentiation. S100 genes include at least 13 members which are
            located as a cluster on chromosome 1q21. This protein has the
            highest content of cysteines of all S100 proteins, has a high
            affinity for Zinc, and is highly expressed in human hair cuticle.
            The precise function of this protein is unknown.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..738
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21"
     gene            1..738
                     /gene="S100A3"
                     /note="S100E"
                     /db_xref="LocusID:6274"
                     /db_xref="MIM:176992"
     CDS             84..389
                     /gene="S100A3"
                     /codon_start=1
                     /product="S100 calcium-binding protein A3"
                     /protein_id="NP_002951.1"
                     /db_xref="GI:4506763"
                     /db_xref="LocusID:6274"
                     /db_xref="MIM:176992"
                     /translation="MARPLEQAVAAIVCTFQEYAGRCGDKYKLCQAELKELLQKELAT
                     WTPTEFRECDYNKFMSVLDTNKDCEVDFVEYVRSLACLCLYCHEYFKDCPSEPPCSQ"
     misc_feature    96..164
                     /gene="S100A3"
                     /note="S_100; Region: S-100/ICaBP type calcium binding
                     domain. The S-100 domain is a subfamily of the EF-hand
                     calcium binding proteins"
                     /db_xref="CDD:pfam01023"
     misc_feature    141..182
                     /gene="S100A3"
                     /note="Region: Calcium binding region"
     misc_feature    270..305
                     /gene="S100A3"
                     /note="Region: Calcium binding region"
     polyA_signal    723..728
                     /gene="S100A3"
BASE COUNT      151 a    220 c    212 g    155 t
ORIGIN      
        1 agtctcagat tggtaaacac ccgaactggt caactctcaa gagaccatct ggttcaggtt
       61 cctgactggg ccagcgagtg aggatggcca ggcctctgga gcaggcggta gctgccatcg
      121 tgtgcacctt ccaggaatac gcagggcgct gtggggacaa atacaagctc tgccaggcgg
      181 agctcaagga gctgctgcag aaggagctgg ccacctggac cccgactgag tttcgggaat
      241 gtgactacaa caaattcatg agtgttctgg acaccaacaa ggactgcgag gtggactttg
      301 tggagtatgt gcgctcactt gcctgcctct gtctctactg ccacgagtac ttcaaggact
      361 gcccctcaga gcccccctgc tcccagtagc ctctgctcca gggggtgcgc tggctgtcgg
      421 gggctgggca tgtctcccac accccctcct accctctctc ctgtacccct ttcaatctgg
      481 acttgcccag gtcttctgcg atcagttaac ccattttacc taggaggccc agagatgtga
      541 gggctccttc ctcaggatgc ccagcgaatg aggggtagag ccactctggg gcccagcctg
      601 cctgccgcac ccctgtggcc tcccttgtgg atgggaggag gcgggatctg ctctgaggcc
      661 ctcgaggctc agcagagcgt gcaccaatga gaccacgatg ggaaagggcc tatttaactc
      721 ctaataaaaa actggcat
//



Revised: July 5, 2002.
 
 


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NCBI | NLM | NIH 

 

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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001723. Homo sapiens bull...[gi:20357501] Links  


LOCUS       BPAG1                   8974 bp    mRNA    linear   PRI 07-SEP-2002
DEFINITION  Homo sapiens bullous pemphigoid antigen 1, 230/240kDa (BPAG1),
            transcript variant 1e, mRNA.
ACCESSION   NM_001723
VERSION     NM_001723.2  GI:20357501
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8974)
  AUTHORS   Stanley,J.R., Tanaka,T., Mueller,S., Klaus-Kovtun,V. and Roop,D.
  TITLE     Isolation of complementary DNA for bullous pemphigoid antigen by
            use of patients' autoantibodies
  JOURNAL   J. Clin. Invest. 82 (6), 1864-1870 (1988)
  MEDLINE   89067122
   PUBMED   2461961
REFERENCE   2  (bases 1 to 8974)
  AUTHORS   Owaribe,K., Kartenbeck,J., Stumpp,S., Magin,T.M., Krieg,T.,
            Diaz,L.A. and Franke,W.W.
  TITLE     The hemidesmosomal plaque. I. Characterization of a major
            constituent protein as a differentiation marker for certain forms
            of epithelia
  JOURNAL   Differentiation 45 (3), 207-220 (1990)
  MEDLINE   91216368
   PUBMED   2090522
REFERENCE   3  (bases 1 to 8974)
  AUTHORS   Sawamura,D., Nomura,K., Sugita,Y., Mattei,M.G., Chu,M.L.,
            Knowlton,R. and Uitto,J.
  TITLE     Bullous pemphigoid antigen (BPAG1): cDNA cloning and mapping of the
            gene to the short arm of human chromosome 6
  JOURNAL   Genomics 8 (4), 722-726 (1990)
  MEDLINE   91115331
   PUBMED   2276744
REFERENCE   4  (bases 1 to 8974)
  AUTHORS   Tanaka,T., Parry,D.A., Klaus-Kovtun,V., Steinert,P.M. and
            Stanley,J.R.
  TITLE     Comparison of molecularly cloned bullous pemphigoid antigen to
            desmoplakin I confirms that they define a new family of cell
            adhesion junction plaque proteins
  JOURNAL   J. Biol. Chem. 266 (19), 12555-12559 (1991)
  MEDLINE   91286285
   PUBMED   1712022
REFERENCE   5  (bases 1 to 8974)
  AUTHORS   Sawamura,D., Li,K., Chu,M.L. and Uitto,J.
  TITLE     Human bullous pemphigoid antigen (BPAG1). Amino acid sequences
            deduced from cloned cDNAs predict biologically important peptide
            segments and protein domains
  JOURNAL   J. Biol. Chem. 266 (27), 17784-17790 (1991)
  MEDLINE   92011493
   PUBMED   1717441
REFERENCE   6  (sites)
  AUTHORS   Elgart,G.W. and Stanley,J.R.
  TITLE     Cloning of the 5' mRNA for the 230-kD bullous pemphigoid antigen by
            rapid amplification of cDNA ends
  JOURNAL   J. Invest. Dermatol. 101 (2), 244-246 (1993)
  MEDLINE   93346806
   PUBMED   8345227
REFERENCE   7  (bases 1 to 8974)
  AUTHORS   Tamai,K., Sawamura,D., Do,H.C., Tamai,Y., Li,K. and Uitto,J.
  TITLE     The human 230-kD bullous pemphigoid antigen gene (BPAG1).
            Exon-intron organization and identification of regulatory tissue
            specific elements in the promoter region
  JOURNAL   J. Clin. Invest. 92 (2), 814-822 (1993)
  MEDLINE   93352829
   PUBMED   8349819
REFERENCE   8  (bases 1 to 8974)
  AUTHORS   Hopkinson,S.B. and Jones,J.C.
  TITLE     Identification of a second protein product of the gene encoding a
            human epidermal autoantigen
  JOURNAL   Biochem. J. 300 (Pt 3), 851-857 (1994)
  MEDLINE   94280413
   PUBMED   8010969
REFERENCE   9  (bases 1 to 8974)
  AUTHORS   Brown,A., Dalpe,G., Mathieu,M. and Kothary,R.
  TITLE     Cloning and characterization of the neural isoforms of human
            dystonin
  JOURNAL   Genomics 29 (3), 777-780 (1995)
  MEDLINE   96121394
   PUBMED   8575775
REFERENCE   10 (bases 1 to 8974)
  AUTHORS   Yang,Y., Bauer,C., Strasser,G., Wollman,R., Julien,J.P. and
            Fuchs,E.
  TITLE     Integrators of the cytoskeleton that stabilize microtubules
  JOURNAL   Cell 98 (2), 229-238 (1999)
  MEDLINE   99354988
   PUBMED   10428034
REFERENCE   11 (bases 1 to 8974)
  AUTHORS   Okumura,M., Yamakawa,H., Ohara,O. and Owaribe,K.
  TITLE     Novel alternative splicings of BPAG1 (bullous pemphigoid antigen 1)
            including the domain structure closely related to MACF (microtubule
            actin cross-linking factor)
  JOURNAL   J. Biol. Chem. 277 (8), 6682-6687 (2002)
  MEDLINE   21839111
   PUBMED   11751855
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from L11690.1 and M69225.1.
            On Apr 30, 2002 this sequence version replaced gi:4502442.
            Summary: This gene encodes two proteins, dystonin and bullous
            pemphigoid antigen 1 (BPAG1), both members of the plakin protein
            family of adhesion junction plaque proteins. Dystonin is expressed
            in neural and muscle tissue, anchoring neural intermediate
            filaments to the actin cytoskeleton. Mice defective for this
            protein have sensory neurodegeneration. Three dystonin isoforms
            have been identified but the transcripts for these isoforms have
            not been completely characterized. The 3' exons of the dystonin
            transcripts are identical to some of the 5' exons of the BPAG1
            transcripts. BPAG1 is expressed in epithelial tissue, anchoring
            keratin-containing intermediate filaments to hemidesmosomes. In the
            blistering disease bullous pemphigoid, autoantibodies are generated
            against this protein. Four BPAG1 isoforms have been identified but
            complete transcripts have been determined for only three isoforms.
            Transcript Variant: This variant (1e) is the shortest transcript,
            sharing all but two of its exons with variant 1eA; the last two
            exons are unique to variant 1e. Isoform 1e is the shortest isoform
            and the C-terminal half of isoform 1e is distinct from that of
            isoform 1eA.
FEATURES             Location/Qualifiers
     source          1..8974
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p12-p11"
     gene            1..8974
                     /gene="BPAG1"
                     /note="BPA; BP240; CATX-15; FLJ13425; FLJ21489; FLJ30627;
                     FLJ32235; KIAA0728"
                     /db_xref="LocusID:667"
                     /db_xref="MIM:113810"
     CDS             103..8052
                     /gene="BPAG1"
                     /note="isoform 1e is encoded by transcript variant 1e;
                     bullous pemphigoid antigen 1; bullous pemphigoid antigen 1
                     (230/240kD); dystonin; hemidesmosomal plaque protein"
                     /codon_start=1
                     /product="bullous pemphigoid antigen 1 isoform 1e
                     precursor"
                     /protein_id="NP_001714.1"
                     /db_xref="GI:4502443"
                     /db_xref="LocusID:667"
                     /db_xref="MIM:113810"
                     /translation="MHSSSYSYRSSDSVFSNTTSTRTSLDSNENLLLVHCGPTLINSC
                     ISFGSESFDGHRLEMLQQIANRVQRDSVICEDKLILAGNALQSDSKRLESGVQFQNEA
                     EIAGYILECENLLRQHVIDVQILIDGKYYQADQLVQRVAKLRDEIMALRNECSSVYSK
                     GRILTTEQTKLMISGITQSLNSGFAQTLHPSLTSGLTQSLTPSLTSSSMTSGLSSGMT
                     SRLTPSVTPAYTPGFPSGLVPNFSSGVEPNSLQTLKLMQIRKPLLKSSLLDQNLTEEE
                     INMKFVQDLLNWVDEMQVQLDRTEWGSDLPSVESHLENHKNVHRAIEEFESSLKEAKI
                     SEIQMTAPLKLTYAEKLHRLESQYAKLLNTSRNQERHLDTLHNFVSRATNELIWLNEK
                     EEEEVAYDWSERNTNIARKKDYHAELMRELDQKEENIKSVQEIAEQLLLENHPARLTI
                     EAYRAAMQTQWSWILQLCQCVEQHIKENTAYFEFFNDAKEATDYLRNLKDAIQRKYSC
                     DRSSSIHKLEDLVQESMEEKEELLQYKSTIANLMGKAKTIIQLKPRNSDCPLKTSIPI
                     KAICDYRQIEITIYKDDECVLANNSHRAKWKVISPTGNEAMVPSVCFTVPPPNKEAVD
                     LANRIEQQYQNVLTLWHESHINMKSVVSWHYLINEIDRIRASNVASIKTMLPGEHQQV
                     LSNLQSRFEDFLEDSQESQVFSGSDITQLEKEVNVCKQYYQELLKSAEREEQEESVYN
                     LYISEVRNIRLRLENCEDRLIRQIRTPLERDDLHESVFRITEQEKLKKELERLKDDLG
                     TITNKCEEFFSQAAASSSVPTLRSELNVVLQNMNQVYSMSSTYIDKLKTVNLVLKNTQ
                     AAEALVKLYETKLCEEEAVIADKNNIENLISTLKQWRSEVDEKRQVFHALEDELQKAK
                     AISDEMFKTYKERDLDFDWHKEKADQLVERWQNVHVQIDNRLRDLEGIGKSLKYYRDT
                     YHPLDDWIQQVETTQRKIQENQPENSKTLATQLNQQKMLVSEIEMKQSKMDECQKYAE
                     QYSATVKDYELQTMTYRAMVDSQQKSPVKRRRMQSSADLIIQEFMDLRTRYTALVTLM
                     TQYIKFAGDSLKRLEEEEIKRCKETSEHGAYSDLLQRQKATVLENSKLTGKISELERM
                     VAELKKQKSRVEEELPKVREAAENELRKQQRNVEDISLQKIRAESEAKQYRRELETIV
                     REKEAAERELERVRQLTIEAEAKRAAVEENLLNFRNQLEENTFTRRTLEDHLKRKDLS
                     LNDLEQQKNKLMEELRRKRDNEEELLKLIKQMEKDLAFQKQVAEKQLKEKQKIELEAR
                     RKITEIQYTCRENALPVCPITQATSCRAVTGLQQEHDKQKAEELKQQVDELTAANRKA
                     EQDMRELTYELNALQLEKTSSEEKARLLKDKLDETNNTLRCLKLELERKDQAEKGYSQ
                     QLRELGRQLNQTTGKAEEAMQEASDLKKIKRNYQLELESLNHEKGKLQREVDRITRAH
                     AVAEKNIQHLNSQIHSFRDEKELERLQICQRKSDHLKEQFEKSHEQLLQNIKAEKENN
                     DKIQRLNEELEKSNECAEMLKQKVEELTRQNNETKLMMQRIQAESENIVLEKQTIQQR
                     CEALKIQADGFKDQLRSTNEHLHKQTKTEQDFQRKIKCLEEDLAKSQNLVSEFKQKCD
                     QQNIIIQNTKKEVRNLNAELNASKEEKRRGEQKVQLQQAQVQELNNRLKKVQDELHLK
                     TIEEQMTHRKMVLFQEESGKFKQSAEEFRKKMEKLMESKVITENDISGIRLDFVSLQQ
                     ENSRAQENAKLCETNIKELERQLQQYREQMQQGQHMEANHYQKCQKLEDELIAQKREV
                     ENLKQKMDQQIKEHEHQLVLLQCEIQKKSTAKDCTFKPDFEMTVKECQHSGELSSRNT
                     GHLHPTPRSPLLRWTQEPQPLEEKWQHRVVEQIPKEVQFQPPGAPLEKEKSQQCYSEY
                     FSQTSTELQITFDETNPITRLSEIEKIRDQALNNSRPPVRYQDNACEMELVKVLTPLE
                     IAKNKQYDMHTEVTTLKQEKNPVPSAEEWMLEGCRASGGLKKGDFLKKGLEPETFQNF
                     DGDHACSVRDDEFKFQGLRHTVTARQLVEAKLLDMRTIEQLRLGLKTVEEVQKTLNKF
                     LTKATSIAGLYLESTKEKISFASAAERIIIDKMVALAFLEAQAATGFIIDPISGQTYS
                     VEDAVLKGVVDPEFRIRLLEAEKAAVGYSYSSKTLSVFQAMENRMLDRQKGKHILEAQ
                     IASGGVIDPVRGIRVPPEIALQQGLLNNAILQFLHEPSSNTRVFPNPNNKQALYYSEL
                     LRMCVFDVESQCFLFPFGERNISNLNVKKTHRISVVDTKTGSELTVYEAFQRNLIEKS
                     IYLELSGQQYQWKEAMFFESYGHSSHMLTDTKTGLHFNINEAIEQGTIDKALVKKYQE
                     GLITLTELADSLLSRLVPKKDLHSPVAGYWLTASGERISVLKASRRNLVDRITALRCL
                     EAQVSTGGIIDPLTGKKYRVAEALHRGLVDEGFAQQLRQCELVITGIGHPITNKMMSV
                     VEAVNANIINKEMGIRCLEFQYLTGGLIEPQVHSRLSIEEALQVGIIDVLIATKLKDQ
                     KSYVRNIICPQTKRKLTYKEALEKADFDFHTGLKLLEVSEPLMTGISSLYYSS"
     sig_peptide     103..231
                     /gene="BPAG1"
     mat_peptide     232..8049
                     /gene="BPAG1"
                     /product="bullous pemphigoid antigen 1, isoform 1e"
     misc_feature    946..1221
                     /gene="BPAG1"
                     /note="Region: smart00150, SPEC, Spectrin repeats"
     misc_feature    1225..1533
                     /gene="BPAG1"
                     /note="Region: pfam00435, spectrin, Spectrin repeat.
                     Spectrin repeats are found in several proteins involved in
                     cytoskeletal structure. These include spectrin,
                     alpha-actinin and dystrophin. The sequence repeat used in
                     this family is taken from the structural repeat in
                     reference. The spectrin repeat forms a three helix bundle.
                     The second helix is interrupted by proline in some
                     sequences. The repeats are defined by a characteristic
                     tryptophan (W) residue at position 17 in helix A and a
                     leucine (L) at 2 residues from the carboxyl end of helix
                     C"
     misc_feature    1228..1530
                     /gene="BPAG1"
                     /note="Region: smart00150, SPEC, Spectrin repeats"
     misc_feature    3133..5100
                     /gene="BPAG1"
                     /note="Region: pfam01576, Myosin_tail, Myosin tail. The
                     myosin molecule is a multi-subunit complex made up of two
                     heavy chains and four light chains it is a fundamental
                     contractile protein found in all eukaryote cell types.
                     This family consists of the coiled-coil myosin heavy chain
                     tail region. The coiled-coil is composed of the tail from
                     two molecules of myosin. These can then assemble into the
                     macromolecular thick filament. The coiled-coil region
                     provides the structural backbone the thick filament"
     misc_feature    3424..5193
                     /gene="BPAG1"
                     /note="Region: pfam01576, Myosin_tail, Myosin tail. The
                     myosin molecule is a multi-subunit complex made up of two
                     heavy chains and four light chains it is a fundamental
                     contractile protein found in all eukaryote cell types.
                     This family consists of the coiled-coil myosin heavy chain
                     tail region. The coiled-coil is composed of the tail from
                     two molecules of myosin. These can then assemble into the
                     macromolecular thick filament. The coiled-coil region
                     provides the structural backbone the thick filament"
     misc_feature    3496..5196
                     /gene="BPAG1"
                     /note="Region: pfam01576, Myosin_tail, Myosin tail. The
                     myosin molecule is a multi-subunit complex made up of two
                     heavy chains and four light chains it is a fundamental
                     contractile protein found in all eukaryote cell types.
                     This family consists of the coiled-coil myosin heavy chain
                     tail region. The coiled-coil is composed of the tail from
                     two molecules of myosin. These can then assemble into the
                     macromolecular thick filament. The coiled-coil region
                     provides the structural backbone the thick filament"
     misc_feature    3523..4524
                     /gene="BPAG1"
                     /note="Region: pfam00038, filament, Intermediate filament
                     protein"
     misc_feature    4120..4650
                     /gene="BPAG1"
                     /note="Region: pfam00038, filament, Intermediate filament
                     protein"
     misc_feature    4150..5196
                     /gene="BPAG1"
                     /note="Region: pfam01576, Myosin_tail, Myosin tail. The
                     myosin molecule is a multi-subunit complex made up of two
                     heavy chains and four light chains it is a fundamental
                     contractile protein found in all eukaryote cell types.
                     This family consists of the coiled-coil myosin heavy chain
                     tail region. The coiled-coil is composed of the tail from
                     two molecules of myosin. These can then assemble into the
                     macromolecular thick filament. The coiled-coil region
                     provides the structural backbone the thick filament"
     misc_feature    4159..4779
                     /gene="BPAG1"
                     /note="Region: pfam00769, ERM, Ezrin/radixin/moesin
                     family. This family of proteins contain a band 4.1 domain
                     (pfam00373), at their amino terminus. This family
                     represents the rest of these proteins"
     misc_feature    4177..4686
                     /gene="BPAG1"
                     /note="Region: pfam00769, ERM, Ezrin/radixin/moesin
                     family. This family of proteins contain a band 4.1 domain
                     (pfam00373), at their amino terminus. This family
                     represents the rest of these proteins"
     misc_feature    4210..5088
                     /gene="BPAG1"
                     /note="Region: pfam01576, Myosin_tail, Myosin tail. The
                     myosin molecule is a multi-subunit complex made up of two
                     heavy chains and four light chains it is a fundamental
                     contractile protein found in all eukaryote cell types.
                     This family consists of the coiled-coil myosin heavy chain
                     tail region. The coiled-coil is composed of the tail from
                     two molecules of myosin. These can then assemble into the
                     macromolecular thick filament. The coiled-coil region
                     provides the structural backbone the thick filament"
     misc_feature    4336..5115
                     /gene="BPAG1"
                     /note="Region: pfam00038, filament, Intermediate filament
                     protein"
     misc_feature    4603..5193
                     /gene="BPAG1"
                     /note="Region: pfam00769, ERM, Ezrin/radixin/moesin
                     family. This family of proteins contain a band 4.1 domain
                     (pfam00373), at their amino terminus. This family
                     represents the rest of these proteins"
     misc_feature    6610..6738
                     /gene="BPAG1"
                     /note="Region: pfam00681, Plectin, Plectin repeat. This
                     family includes repeats from plectin, desmoplakin,
                     envoplakin and bullous pemphigoid antigen"
     misc_feature    6610..6717
                     /gene="BPAG1"
                     /note="Region: smart00250, PLEC, Plectin repeat"
     misc_feature    6826..6960
                     /gene="BPAG1"
                     /note="Region: pfam00681, Plectin, Plectin repeat. This
                     family includes repeats from plectin, desmoplakin,
                     envoplakin and bullous pemphigoid antigen"
     misc_feature    6826..6927
                     /gene="BPAG1"
                     /note="Region: smart00250, PLEC, Plectin repeat"
     misc_feature    7417..7551
                     /gene="BPAG1"
                     /note="Region: pfam00681, Plectin, Plectin repeat. This
                     family includes repeats from plectin, desmoplakin,
                     envoplakin and bullous pemphigoid antigen"
     misc_feature    7531..7665
                     /gene="BPAG1"
                     /note="Region: pfam00681, Plectin, Plectin repeat. This
                     family includes repeats from plectin, desmoplakin,
                     envoplakin and bullous pemphigoid antigen"
     misc_feature    7531..7644
                     /gene="BPAG1"
                     /note="Region: smart00250, PLEC, Plectin repeat"
     misc_feature    7645..7758
                     /gene="BPAG1"
                     /note="Region: smart00250, PLEC, Plectin repeat"
     misc_feature    7759..7890
                     /gene="BPAG1"
                     /note="Region: pfam00681, Plectin, Plectin repeat. This
                     family includes repeats from plectin, desmoplakin,
                     envoplakin and bullous pemphigoid antigen"
     misc_feature    7759..7860
                     /gene="BPAG1"
                     /note="Region: smart00250, PLEC, Plectin repeat"
     variation       complement(859)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2144407"
     variation       3826
                     /gene="BPAG1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2230861"
     variation       4176
                     /gene="BPAG1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2230862"
     variation       complement(4176)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3812249"
     variation       5082
                     /gene="BPAG1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:2230863"
     variation       5157
                     /gene="BPAG1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2230864"
     variation       6445
                     /gene="BPAG1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2230865"
     variation       7098
                     /gene="BPAG1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2230866"
     variation       7155
                     /gene="BPAG1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2230867"
     variation       complement(8303..8304)
                     /allele="-"
                     /allele="AA"
                     /db_xref="dbSNP:3841165"
     polyA_signal    8957..8962
                     /gene="BPAG1"
     polyA_site      8974
                     /gene="BPAG1"
BASE COUNT     3159 a   1615 c   1976 g   2224 t
ORIGIN      
        1 cagctgccac ttttcaccgt tagaagtaga gctttttcca gacctcctac cttttagtct
       61 actttgaaag gtgaaagaaa gaacatcgtt tcaggaataa aaatgcacag tagtagttat
      121 agttaccgta gcagtgattc tgtgtttagt aacactacca gcactcgaac cagtcttgat
      181 tcaaatgaaa atcttctctt ggttcattgt ggtccaacac tgatcaactc ttgcattagc
      241 ttcggcagtg aatcctttga tggacacagg ttagaaatgt tgcaacagat tgccaacaga
      301 gttcagaggg acagtgtcat ctgtgaagac aaactgattc ttgctggaaa tgctcttcag
      361 tctgattcta aaagattaga atcaggagtg cagtttcaga atgaagcaga aattgctggg
      421 tatatacttg aatgtgagaa ccttttacgc cagcatgtaa ttgatgtaca gattcttatt
      481 gatggaaaat actaccaggc agatcaattg gtacagaggg ttgcaaaact gcgtgacgaa
      541 attatggcct taaggaacga atgttcttct gtgtacagca aaggacgcat actgacaaca
      601 gaacagacaa agctcatgat atcaggaatc actcaaagtt taaactcagg atttgcacag
      661 accttacacc ctagtctgac ctcagggctg acccagagtt taacaccttc cctaacctct
      721 tctagtatga cttctggcct gtcatcaggg atgacttccc gcctgactcc atctgtcact
      781 ccagcttata cacctggttt cccatcagga ttagttccaa atttcagttc aggagtagag
      841 ccaaattcat tgcaaacttt gaagttgatg cagatccgaa aaccccttct aaagtcttct
      901 ttgctggatc aaaatttaac agaagaagaa atcaatatga aatttgttca ggatcttttg
      961 aattgggttg atgagatgca ggtacaactg gaccgcactg agtggggctc agatttgcca
     1021 agtgttgaaa gccatttaga aaatcataaa aatgttcata gagctattga agaatttgaa
     1081 tctagtctca aagaagctaa aatcagtgag attcaaatga cagcacctct taaactgact
     1141 tatgcagaaa agttgcacag attagagagt cagtatgcaa aactcttgaa tacatccagg
     1201 aatcaagaac ggcaccttga tacactccat aattttgtaa gtcgtgcgac taatgaactt
     1261 atttggttga atgaaaaaga agaggaggaa gttgcttatg actggagtga gagaaacacc
     1321 aacatagcta ggaaaaaaga ttatcatgct gaattaatga gagaacttga tcaaaaggaa
     1381 gaaaatatta aatcagttca ggagatagca gagcagctac ttctagaaaa tcatccagcc
     1441 cggttaacta ttgaggccta cagagcggca atgcagacgc agtggagctg gatcttacag
     1501 ctctgccagt gtgtggagca gcacataaag gagaacacag cgtatttcga gtttttcaat
     1561 gatgccaaag aagctactga ttacttaagg aatctaaaag atgccattca gcggaagtac
     1621 agctgtgata gatcaagcag cattcacaag ctagaagacc ttgttcagga atcaatggaa
     1681 gagaaagaag aacttctgca gtacaaaagc actatagcaa acctaatggg aaaagcaaaa
     1741 acaataattc aactgaagcc aaggaattct gactgtccac tcaaaacttc tattccgatc
     1801 aaagctatct gtgactacag acaaattgag ataaccattt acaaagacga tgaatgtgtt
     1861 ttggcgaata actctcatcg tgctaaatgg aaggtcatta gtcctactgg gaatgaggct
     1921 atggtcccat ctgtgtgctt caccgttcct ccaccaaaca aagaagcggt ggaccttgcc
     1981 aacagaattg agcaacagta tcagaatgtc ctgactcttt ggcatgagtc tcacataaac
     2041 atgaagagtg tagtatcctg gcattatctc atcaatgaaa ttgatagaat tcgagctagc
     2101 aatgtggctt caataaagac aatgctacct ggtgaacatc agcaagttct aagtaatcta
     2161 caatctcgtt ttgaagattt tctggaagat agccaggaat cccaagtctt ttcaggctca
     2221 gatataacac aactggaaaa ggaggttaat gtatgtaagc agtattatca agaacttctt
     2281 aaatctgcag aaagagagga gcaagaggaa tcagtttata atctctacat ctctgaagtt
     2341 cgaaacatta gacttcggtt agagaactgt gaagatcggc tgattagaca gattcgaact
     2401 cccctggaaa gagatgattt gcatgaaagt gtgttcagaa tcacagaaca ggagaaacta
     2461 aagaaagagc tggaacgact taaagatgat ttgggaacaa tcacaaataa gtgtgaggag
     2521 tttttcagtc aagcagcagc ctcttcatca gtccctaccc tacgatcaga gcttaatgtg
     2581 gtccttcaga acatgaacca agtctattct atgtcttcca cttacataga taagttgaaa
     2641 actgttaact tggtgttaaa aaacactcaa gctgcagaag ccctcgtaaa actctatgaa
     2701 actaaactgt gtgaagaaga agcagttata gctgacaaga ataatattga gaatctaata
     2761 agtactttaa agcaatggag atctgaagta gatgaaaaga gacaggtatt ccatgcctta
     2821 gaggatgagt tgcagaaagc taaagccatc agtgatgaaa tgtttaaaac gtataaagaa
     2881 cgggaccttg attttgactg gcacaaagaa aaagcagatc aattagttga aaggtggcaa
     2941 aatgttcatg tgcagattga caacaggtta cgggacttag agggcattgg caaatcactg
     3001 aagtactaca gagacactta ccatccttta gatgattgga tccagcaggt tgaaactact
     3061 cagagaaaga ttcaggaaaa tcagcctgaa aatagtaaaa ccctagccac acagttgaat
     3121 caacagaaga tgctggtgtc cgaaatagaa atgaaacaga gcaaaatgga cgagtgtcaa
     3181 aaatatgcag aacagtactc agctacagtg aaggactatg aattacaaac aatgacctac
     3241 cgggccatgg tagattcaca acaaaaatct ccagtgaaac gccgaagaat gcagagttca
     3301 gcagatctca ttattcaaga gttcatggac ctaaggactc gatatactgc cctggtcact
     3361 ctcatgacac aatatattaa atttgctggt gattcattga agaggctgga agaggaggag
     3421 attaaaaggt gtaaggagac ttctgaacat ggggcatatt cagatctgct tcagcgtcag
     3481 aaggcaacag tgcttgagaa tagcaaactt acaggaaaga taagtgagtt ggaaagaatg
     3541 gtagctgaac taaagaaaca aaagtcccga gtagaggaag aacttccgaa ggtcagggag
     3601 gctgcagaaa atgaattgag aaagcagcag agaaatgtag aagatatctc tctgcagaag
     3661 ataagggctg aaagtgaagc caagcagtac cgcagggaac ttgaaaccat tgtgagagag
     3721 aaggaagccg ctgaaagaga actggagcgg gtgaggcagc tcaccataga ggccgaggct
     3781 aaaagagctg ccgtggaaga gaacctcctg aattttcgca atcagttgga ggaaaacacc
     3841 tttaccagac gaacactgga agatcatctt aaaagaaaag atttaagtct caatgatttg
     3901 gagcaacaaa aaaataaatt aatggaagaa ttaagaagaa agagagacaa tgaggaagaa
     3961 ctcttgaagc tgataaagca gatggaaaaa gaccttgcat ttcagaaaca ggtagcagag
     4021 aaacagttga aagaaaagca gaaaattgaa ttggaagcaa gaagaaaaat aactgaaatt
     4081 cagtatacat gtagagaaaa tgcattgcca gtgtgtccga tcacacaggc tacatcatgc
     4141 agggcagtaa cgggtctcca gcaagaacat gacaagcaga aagcagaaga actcaaacag
     4201 caggtagatg aactaacagc tgccaataga aaggctgaac aagacatgag agagctgaca
     4261 tatgaactta atgccctcca gcttgaaaaa acgtcatctg aggaaaaggc tcgtttgcta
     4321 aaagataaac tagatgaaac aaataataca ctcagatgcc ttaagttgga gctggaaagg
     4381 aaggatcagg cggagaaagg gtattctcaa caactcagag agcttggtag gcaattgaat
     4441 caaaccacag gtaaagctga agaagccatg caagaagcta gtgatctcaa gaaaataaag
     4501 cgcaattatc agttagaatt agaatctctt aatcatgaaa aagggaaact acaaagagaa
     4561 gtagacagaa tcacaagggc acatgctgta gctgagaaga atattcagca tttaaattca
     4621 caaattcatt cttttcgaga tgagaaagaa ttagaaagac tacaaatctg ccagagaaaa
     4681 tcagatcatc taaaagaaca atttgagaaa agccatgagc agttgcttca aaatatcaaa
     4741 gctgaaaaag aaaataatga taaaatccaa aggctcaatg aagaattgga gaaaagtaat
     4801 gagtgtgcag agatgctaaa acaaaaagta gaggagctta ctaggcagaa taatgaaacc
     4861 aaattaatga tgcagagaat tcaggcagaa tcagagaata tagttttaga gaaacaaact
     4921 atccagcaaa gatgtgaagc actgaaaatt caggcagatg gttttaaaga tcagctacgc
     4981 agcacaaatg aacacttgca taaacagaca aaaacagagc aggattttca aagaaaaatt
     5041 aaatgcctag aagaagacct ggcgaaaagt caaaatttgg taagtgaatt taagcaaaag
     5101 tgtgaccaac agaacattat catccagaat accaagaaag aagttagaaa tctgaatgcg
     5161 gaactgaatg cttccaaaga agagaagcga cgcggggagc agaaagttca gctacaacaa
     5221 gctcaggtgc aagagttaaa taacaggttg aaaaaagtac aagacgaatt acacttaaag
     5281 accatagagg agcagatgac ccacagaaag atggttctgt ttcaggaaga atctggtaaa
     5341 ttcaaacaat cagcagagga gtttcggaag aagatggaaa aattaatgga gtccaaagtc
     5401 atcactgaaa atgatatttc aggcattagg cttgactttg tgtctcttca acaagaaaac
     5461 tctagagccc aagaaaatgc taagctttgt gaaacaaaca ttaaagaact tgaaagacag
     5521 cttcaacagt atcgtgaaca aatgcagcaa gggcagcaca tggaagcaaa tcattaccaa
     5581 aaatgtcaga aacttgagga tgagctgata gcccagaagc gtgaggttga aaacctgaag
     5641 caaaaaatgg accaacagat caaagagcat gaacatcaat tagttttgct ccagtgtgaa
     5701 attcaaaaaa agagcacagc caaagactgt accttcaaac cagattttga gatgacagtg
     5761 aaggagtgcc agcactctgg agagctgtcc tctagaaaca ctggacacct tcacccaaca
     5821 cccagatccc ctctgttgag atggactcaa gaaccacagc cattggaaga gaagtggcag
     5881 catcgggttg ttgaacagat acccaaagaa gtccaattcc agccaccagg ggctccactc
     5941 gagaaagaga aaagccagca gtgttactct gagtactttt ctcagacaag caccgagtta
     6001 cagataactt ttgatgagac aaaccccatt acaagactgt ctgaaattga gaagataaga
     6061 gaccaagccc tgaacaattc tagaccacct gttaggtatc aagataacgc atgtgaaatg
     6121 gaactggtga aggttttgac acccttagag atagctaaga acaagcagta tgatatgcat
     6181 acagaagtca caacattaaa acaagaaaag aacccagttc ccagtgctga agaatggatg
     6241 cttgaagggt gcagagcatc tggtggactc aagaaagggg atttccttaa gaagggctta
     6301 gaaccagaga ccttccagaa ctttgatggt gatcatgcat gttcagtcag ggatgatgaa
     6361 tttaaattcc aagggcttag gcacactgtg actgccaggc agttggtgga agctaagctt
     6421 ctggacatga gaacaattga gcagctgcga ctcggtctta agactgttga agaagttcag
     6481 aaaactctta acaagtttct gacgaaagcc acctcaattg cagggcttta cctagaatct
     6541 acaaaagaaa agatttcatt tgcctcagcg gccgagagaa tcataataga caaaatggtg
     6601 gctttggcat ttttagaagc tcaggctgca acaggtttta taattgatcc catttcaggt
     6661 cagacatatt ctgttgaaga tgcagttctt aaaggagttg ttgaccccga attcagaatt
     6721 aggcttcttg aggcagagaa ggcagctgtg ggatattctt attcttctaa gacattgtca
     6781 gtgtttcaag ctatggaaaa tagaatgctt gacagacaaa aaggtaaaca tatcttggaa
     6841 gcccagattg ccagtggggg tgtcattgac cctgtgagag gcattcgtgt tcctccagaa
     6901 attgctctgc agcaggggtt gttgaataat gccatcttac agtttttaca tgagccatcc
     6961 agcaacacaa gagttttccc taatcccaat aacaagcaag ctctgtatta ctcagaatta
     7021 ctgcgaatgt gtgtatttga tgtagagtcc caatgctttc tgtttccatt tggggagagg
     7081 aacatttcca atctcaatgt caagaaaaca catagaattt ctgtagtaga tactaaaaca
     7141 ggatcagaat tgaccgtgta tgaggctttc cagagaaacc tgattgagaa aagtatatat
     7201 cttgaacttt cagggcagca atatcagtgg aaggaagcta tgttttttga atcctatggg
     7261 cattcttctc atatgctgac tgatactaaa acaggattac acttcaatat taatgaggct
     7321 atagagcagg gaacaattga caaagccttg gtcaaaaagt atcaggaagg cctcatcaca
     7381 cttacagaac ttgctgattc tttgctgagc cggttagtcc ccaagaaaga tttgcacagt
     7441 cctgttgcag ggtattggct gactgctagt ggggaaagga tctctgtact aaaagcctcc
     7501 cgtagaaatt tggttgatcg gattactgcc ctccgatgcc ttgaagccca agtcagtaca
     7561 gggggcataa ttgatcctct tactggcaaa aagtaccggg tggccgaagc tttgcataga
     7621 ggcctggttg atgaggggtt tgcccagcag ctgcgacagt gtgaattagt aatcacaggg
     7681 attggccatc ccatcactaa caaaatgatg tcagtggtgg aagctgtgaa tgcaaatatt
     7741 ataaataagg aaatgggaat ccgatgtttg gaatttcagt acttgacagg agggttgata
     7801 gagccacagg ttcactctcg gttatcaata gaagaggctc tccaagtagg tattatagat
     7861 gtcctcattg ccacaaaact caaagatcaa aagtcatatg tcagaaatat aatatgccct
     7921 cagacaaaaa gaaagttgac atataaagaa gccttagaaa aagctgattt tgatttccac
     7981 acaggactta aactgttaga agtatctgag cccctgatga caggaatttc tagcctctac
     8041 tattcttcct aatgggacat gtttaaataa ctgtgcaagg ggtgatgcag gctggttcat
     8101 gccacttttt cagagtatga tgatatcggc tacatatgca gtctgtgaat tatgtaacat
     8161 actctatttc ttgagggctg caaattgcta agtgctcaaa atagagtaag ttttaaattg
     8221 aaaattacat aagatttaat gcccttcaaa tggtttcatt tagccttgag aatggttttt
     8281 tgaaacttgg ccacactaaa atgttttttt ttttacgtag aatgtgggat aaacttgatg
     8341 aactccaagt tcacagtgtc atttcttcag aactcccctt cattgaatag tgatcattta
     8401 ttaaatgata aattgcactc gctgaaagag cacgtcatga agcaccatgg aatcaaagag
     8461 aaagatataa attcgttccc acagccttca agctgcagtg ttttagattg cttcaaaaaa
     8521 tgaaaaagtt ttgccttttt ctgtatatag tgaccttctt tgcatattaa aatgtttacc
     8581 acaatgtccc atttctagtt aagtcttcgc acttgaaagc taacattatg aatattatgt
     8641 gttggaggag gggaaggatt ttcttcattc tgtgtatttt ccggttacat gtacagtaga
     8701 cgttctctat tctatcagcc ttctatggta cctttttgtc aggacaatta ggattgtaat
     8761 gctaatgcaa aggcagcaat tcaaagatct tctagtgcct catgaataaa gttgagattt
     8821 aaaatttgta acattgatgg aacagctggg aggttagacc aatcattaag gaatgtatgc
     8881 catagctttc tttgctacca taaacatttt ggaggtgcat ctgctatgtg acatggtaaa
     8941 tatggttaag tgaatgaata aaatgtttta gtaa
//



Revised: July 5, 2002.
 
 


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1: NM_004772. Homo sapiens P311...[gi:4758865] Links  


LOCUS       P311                    2036 bp    mRNA    linear   PRI 14-MAY-2002
DEFINITION  Homo sapiens P311 protein (P311), mRNA.
ACCESSION   NM_004772
VERSION     NM_004772.1  GI:4758865
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2036)
  AUTHORS   Studler,J.M., Glowinski,J. and Levi-Strauss,M.
  TITLE     An abundant mRNA of the embryonic brain persists at a high level in
            cerebellum, hippocampus and olfactory bulb during adulthood
  JOURNAL   Eur. J. Neurosci. 5 (6), 614-623 (1993)
  MEDLINE   94084289
   PUBMED   8261136
REFERENCE   2  (bases 1 to 1814)
  AUTHORS   Studler,J.M.
  TITLE     Direct Submission
  JOURNAL   Submitted (29-JUN-1995) Jeanne-Marie Studler, INSERM U-114, College
            de France, 11 Place Marcelin Berthelot, Paris cedex 05, 75231,
            France
COMMENT     PREDICTED REFSEQ: The mRNA record is supported by experimental
            evidence; however, the coding sequence is predicted. The reference
            sequence was derived from U30521.1.
FEATURES             Location/Qualifiers
     source          1..2036
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q21.3"
                     /sex="female"
                     /tissue_type="cerebellum"
                     /dev_stage="2 year-old"
     gene            1..2036
                     /gene="P311"
                     /note="PTZ17; D4S114; PRO1873"
                     /db_xref="LocusID:9315"
     CDS             203..409
                     /gene="P311"
                     /note="putative"
                     /codon_start=1
                     /evidence=not_experimental
                     /product="P311 protein"
                     /protein_id="NP_004763.1"
                     /db_xref="GI:4758866"
                     /db_xref="LocusID:9315"
                     /translation="MVYYPELFVWVSQEPFPNKDMEGRLPKGRLPVPKEVNRKKNDET
                     NAASLTPLGSSELRSPRISYLHFF"
     variation       208
                     /gene="P311"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1802860"
     variation       330
                     /gene="P311"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:11559"
     variation       complement(330)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3797721"
     variation       360
                     /gene="P311"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1802827"
     variation       376
                     /gene="P311"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1802859"
     variation       437
                     /gene="P311"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1055975"
     variation       946
                     /gene="P311"
                     /note="WARNING: map location ambiguous"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1802828"
     variation       1265
                     /gene="P311"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3196755"
     variation       1265
                     /gene="P311"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1056131"
     variation       complement(1432)
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:32253"
     variation       complement(1432)
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3797720"
     variation       1601
                     /gene="P311"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:4618"
     variation       1683
                     /gene="P311"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:10779"
     variation       1843
                     /gene="P311"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1802830"
     variation       1870
                     /gene="P311"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1802829"
     polyA_signal    2005..2010
                     /gene="P311"
BASE COUNT      532 a    446 c    406 g    652 t
ORIGIN      
        1 tttcctcttt ctctaagagt ctctctctcc ctttccctct ctctcccccc aatctgtctt
       61 tctagcatgt tgcccttttt caaccacatt tgtgtttcag gtgtagagag gagagagagt
      121 gaacagggag cggggctttt gtctgttggt ctccctggac tgaagagagg gagaatagaa
      181 gcccaagact aagattctca aaatggttta ttacccagaa ctctttgtct gggtcagtca
      241 agaaccattt ccaaacaagg acatggaggg aaggcttcct aagggaagac ttcctgtccc
      301 aaaggaagtg aaccgcaaga agaacgatga gacaaacgct gcctccctga ctccactggg
      361 cagcagtgaa ctccgctccc caagaatcag ttacctccac tttttttaat cgtaacacct
      421 ccatttgtat tacatatggt gtatgggtat tgatgaggtc atggtatcat atatgggatt
      481 tttttctgtg taaatcatca agtataagaa gaaactatgg gactctgagc cttgctttag
      541 agaatttaca gtggacaaat aggtgtcatc aaaccagttt ttaatcattc tgactcaagt
      601 gaaaacgctc agaatttcac actgtgaatc cacgtttaca acccttacag gtgggccttc
      661 aggcctggtt cgctacaaca atgtcttcca caactcaaac tcccaccgcg ctcacacaac
      721 cggtccactc ctgccttttc actcacacag ctcccgactg cttcttgcag aggctgagag
      781 tccccccccc cacctttttt tttcatttag atgtaacaaa cctagtagtt tatgttcatc
      841 aattgtctgt atatctctat attttatcca tgtactcttt tgatgtatag aagtagtttg
      901 aaactcattg tttccttgtg gtaagtgacc gagatgctgc cacaggacct gagacactga
      961 tgaatggtgc tattttggac tttcaacatg ctccttggcg aggtagctct gatggagtta
     1021 ttttttattt ccatgttcta agaaggtgtt ggtactctgt ttccctgaat gttgttctct
     1081 agactggatt gacttgtttt ccttgtgtct tcagtgtggc tttcttcctc agtgttgtag
     1141 gttgagcgaa tgctaccaga gtgtgagaga ccattgtctc gttggctggc gctcacggac
     1201 atgcagtcac ggtagcggga gcaatcacaa aactgtaatt tacttaccaa atctcttcct
     1261 ttccgtagcc tcgcctgcct gacttagaga aagaaaagca ataattttac aggcattttg
     1321 aggtgtctct ttgggttctt tctgtttgaa aggatatttg tcgaaaaaaa gagcaaaacc
     1381 gttttaaata aactccccct ggaaaaaaac ccaaaacact ggcatctgag taggaatatg
     1441 aaaatgacac cttttccaaa tattaaattg gaaaacaagg tctacaaaat catgatactt
     1501 ttttaaaagg cagagcattc ttttttcggc aattttgata agcaaggtgt agatttacat
     1561 ttttgtcctt gctcccaacg aaatggataa acaaaaataa attaccatct actcatggaa
     1621 tgttgttgtg ttagccagtc tgaaagccca ccttaatttt tatataactg tctttagctc
     1681 ttcttttgac agggcaggcc ttgttctgaa ctgtttcgct tctgactgtt aaacaccgat
     1741 gacgcatgca ctgcacttct tcgttttctt cttgctcccc cattggcctg agtttcttgt
     1801 gcattactcc tctccctcct tcgttagaat aggtatatca gctgtgtaaa tagagcaaga
     1861 aaacagtatt ctgcatctgt ggcatttatg tagagttgca gttgtgtact gctgaaaatg
     1921 caggcttttg taacagtgtg atctttactg atgcactcat gacaagtacc caatgtattt
     1981 tagctatttt agtagtattt gttcaataaa tacgcaagct gtaaggtaac tgtctg
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_000570. Homo sapiens Fc f...[gi:10835138] Links  


LOCUS       FCGR3B                   887 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens Fc fragment of IgG, low affinity IIIb, receptor for
            (CD16) (FCGR3B), mRNA.
ACCESSION   NM_000570
VERSION     NM_000570.1  GI:10835138
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 887)
  AUTHORS   Ravetch,J.V. and Perussia,B.
  TITLE     Alternative membrane forms of Fc gamma RIII(CD16) on human natural
            killer cells and neutrophils. Cell type-specific expression of two
            genes that differ in single nucleotide substitutions
  JOURNAL   J. Exp. Med. 170 (2), 481-497 (1989)
  MEDLINE   89328325
   PUBMED   2526846
REFERENCE   2  (bases 1 to 887)
  AUTHORS   Qiu,W.Q., de Bruin,D., Brownstein,B.H., Pearse,R. and Ravetch,J.V.
  TITLE     Organization of the human and mouse low-affinity Fc gamma R genes:
            duplication and recombination
  JOURNAL   Science 248 (4956), 732-735 (1990)
  MEDLINE   90239570
   PUBMED   2139735
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from X16863.1.
FEATURES             Location/Qualifiers
     source          1..887
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23"
                     /cell_line="primary-peripheral blood granulocytes"
                     /note="Allele: NA-2"
     gene            1..887
                     /gene="FCGR3B"
                     /note="CD16; FCG3; FCGR3"
                     /db_xref="LocusID:2215"
     CDS             34..735
                     /gene="FCGR3B"
                     /note="(AA 1-233)"
                     /codon_start=1
                     /product="Fc fragment of IgG, low affinity IIIb, receptor
                     for (CD16)"
                     /protein_id="NP_000561.1"
                     /db_xref="GI:10835139"
                     /db_xref="LocusID:2215"
                     /translation="MWQLLLPTALLLLVSAGMRTEDLPKAVVFLEPQWYSVLEKDSVT
                     LKCQGAYSPEDNSTQWFHNESLISSQASSYFIDAATVNDSGEYRCQTNLSTLSDPVQL
                     EVHIGWLLLQAPRWVFKEEDPIHLRCHSWKNTALHKVTYLQNGKDRKYFHHNSDFHIP
                     KATLKDSGSYFCRGLVGSKNVSSETVNITITQGLAVSTISSFSPPGYQVSFCLVMVLL
                     FAVDTGLYFSVKTNI"
     misc_feature    145..309
                     /gene="FCGR3B"
                     /note="IG; Region: Immunoglobulin"
                     /db_xref="CDD:IG"
     variation       141
                     /gene="FCGR3B"
                     /note="c is g in NA-1 allele"
     variation       complement(147)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:447536"
     variation       147
                     /gene="FCGR3B"
                     /note="t is c in NA-1 allele"
     variation       227
                     /gene="FCGR3B"
                     /note="g is a in NA-1 allele"
     variation       complement(277)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:428888"
     variation       277
                     /gene="FCGR3B"
                     /note="a is g in NA-1 allele"
     variation       349
                     /gene="FCGR3B"
                     /note="a is g in NA-1 allele"
     variation       473
                     /gene="FCGR3B"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:443082"
     variation       505
                     /gene="FCGR3B"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:396716"
     variation       531
                     /gene="FCGR3B"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3181665"
     variation       559
                     /gene="FCGR3B"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:2229097"
     variation       559
                     /gene="FCGR3B"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:396991"
     variation       641
                     /gene="FCGR3B"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1042206"
     variation       733
                     /gene="FCGR3B"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1042207"
     variation       766
                     /gene="FCGR3B"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1042208"
     variation       814
                     /gene="FCGR3B"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1126552"
     variation       829
                     /gene="FCGR3B"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1042209"
BASE COUNT      228 a    236 c    206 g    217 t
ORIGIN      
        1 tctttggtga cttgtccact ccagtgtggc atcatgtggc agctgctcct cccaactgct
       61 ctgctacttc tagtttcagc tggcatgcgg actgaagatc tcccaaaggc tgtggtgttc
      121 ctggagcctc aatggtacag cgtgcttgag aaggacagtg tgactctgaa gtgccaggga
      181 gcctactccc ctgaggacaa ttccacacag tggtttcaca atgagagcct catctcaagc
      241 caggcctcga gctacttcat tgacgctgcc acagtcaacg acagtggaga gtacaggtgc
      301 cagacaaacc tctccaccct cagtgacccg gtgcagctag aagtccatat cggctggctg
      361 ttgctccagg cccctcggtg ggtgttcaag gaggaagacc ctattcacct gaggtgtcac
      421 agctggaaga acactgctct gcataaggtc acatatttac agaatggcaa agacaggaag
      481 tattttcatc ataattctga cttccacatt ccaaaagcca cactcaaaga tagcggctcc
      541 tacttctgca gggggcttgt tgggagtaaa aatgtgtctt cagagactgt gaacatcacc
      601 atcactcaag gtttggcagt gtcaaccatc tcatcattct ctccacctgg gtaccaagtc
      661 tctttctgct tggtgatggt actccttttt gcagtggaca caggactata tttctctgtg
      721 aagacaaaca tttgaagctc aacaagagac tggaaggacc ataaacttaa atggagaaag
      781 gaccctcaag acaaatgacc cccatcccat gggagtaata agagcagtgg cagcagcatc
      841 tctgaacatt tctctggatt tgcaacccca tcatcctcag gcctctc
//



Revised: July 5, 2002.
 
 


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1: NM_005084. Homo sapiens phos...[gi:4826883] Links  


LOCUS       PLA2G7                  1505 bp    mRNA    linear   PRI 01-NOV-2000
DEFINITION  Homo sapiens phospholipase A2, group VII (platelet-activating
            factor acetylhydrolase, plasma) (PLA2G7), mRNA.
ACCESSION   NM_005084
VERSION     NM_005084.1  GI:4826883
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1505)
  AUTHORS   Tjoelker,L.W., Wilder,C., Eberhardt,C., Stafforini,D.M.,
            Dietsch,G., Schimpf,B., Hooper,S., Trong,H., Cousens,L.S.,
            Zimmerman,G.A., Yamada,Y., McIntyre,T.M., Prescott,S.M. and
            Gray,P.W.
  TITLE     Anti-inflammatory properties of a platelet-activating factor
            acetylhydrolase
  JOURNAL   Nature 374 (6522), 549-553 (1995)
  MEDLINE   95214779
   PUBMED   7700381
REFERENCE   2  (bases 1 to 1505)
  AUTHORS   Tew,D.G., Southan,C., Rice,S.Q., Lawrence,M.P., Li,H., Boyd,H.F.,
            Moores,K., Gloger,I.S. and Macphee,C.H.
  TITLE     Purification, properties, sequencing, and cloning of a
            lipoprotein-associated, serine-dependent phospholipase involved in
            the oxidative modification of low-density lipoproteins
  JOURNAL   Arterioscler. Thromb. Vasc. Biol. 16 (4), 591-599 (1996)
  MEDLINE   96197208
   PUBMED   8624782
REFERENCE   3  (bases 1 to 1505)
  AUTHORS   Hiramoto,M., Yoshida,H., Imaizumi,T., Yoshimizu,N. and Satoh,K.
  TITLE     A mutation in plasma platelet-activating factor acetylhydrolase
            (Val279-->Phe) is a genetic risk factor for stroke
  JOURNAL   Stroke 28 (12), 2417-2420 (1997)
  MEDLINE   98074100
   PUBMED   9412624
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from U20157.1.
FEATURES             Location/Qualifiers
     source          1..1505
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.2-p12"
                     /clone="sAH 406-3"
                     /cell_type="macrophage"
                     /tissue_type="myeloid"
                     /clone_lib="in vitro differentiated macrophage cDNA
                     library"
     gene            1..1505
                     /gene="PLA2G7"
                     /note="PAFAH; LDL-PLA2"
                     /db_xref="LocusID:7941"
                     /db_xref="MIM:601690"
     variation       151
                     /gene="PLA2G7"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1805019"
     CDS             162..1487
                     /gene="PLA2G7"
                     /note="Platelet-activating factor acetylhydrolase"
                     /codon_start=1
                     /product="phospholipase A2, group VII (platelet-activating
                     factor acetylhydrolase, plasma)"
                     /protein_id="NP_005075.1"
                     /db_xref="GI:4826884"
                     /db_xref="LocusID:7941"
                     /db_xref="MIM:601690"
                     /translation="MVPPKLHVLFCLCGCLAVVYPFDWQYINPVAHMKSSAWVNKIQV
                     LMAAASFGQTKIPRGNGPYSVGCTDLMFDHTNKGTFLRLYYPSQDNDRLDTLWIPNKE
                     YFWGLSKFLGTHWLMGNILRLLFGSMTTPANWNSPLRPGEKYPLVVFSHGLGAFRTLY
                     SAIGIDLASHGFIVAAVEHRDRSASATYYFKDQSAAEIGDKSWLYLRTLKQEEETHIR
                     NEQVRQRAKECSQALSLILDIDHGKPVKNALDLKFDMEQLKDSIDREKIAVIGHSFGG
                     ATVIQTLSEDQRFRCGIALDAWMFPLGDEVYSRIPQPLFFINSEYFQYPANIIKMKKC
                     YSPDKERKMITIRGSVHQNFADFTFATGKIIGHMLKLKGDIDSNVAIDLSNKASLAFL
                     QKHLGLHKDFDQWDCLIEGDDENLIPGTNINTTNQHIMLQNSSGIEKYN"
     misc_feature    909..1451
                     /gene="PLA2G7"
                     /note="abhydrolase; Region: alpha/beta hydrolase fold"
                     /db_xref="CDD:pfam00561"
     variation       436
                     /gene="PLA2G7"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1805017"
     variation       754
                     /gene="PLA2G7"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1805018"
     variation       complement(1297)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1051931"
BASE COUNT      438 a    311 c    333 g    423 t
ORIGIN      
        1 gctggtcgga ggctcgcagt gctgtcggcg agaagcagtc gggtttggag cgcttgggtc
       61 gcgttggtgc gcggtggaac gcgcccaggg accccagttc ccgcgagcag ctccgcgccg
      121 cgcctgagag actaagctga aactgctgct cagctcccaa gatggtgcca cccaaattgc
      181 atgtgctttt ctgcctctgc ggctgcctgg ctgtggttta tccttttgac tggcaataca
      241 taaatcctgt tgcccatatg aaatcatcag catgggtcaa caaaatacaa gtactgatgg
      301 ctgctgcaag ctttggccaa actaaaatcc cccggggaaa tgggccttat tccgttggtt
      361 gtacagactt aatgtttgat cacactaata agggcacctt cttgcgttta tattatccat
      421 cccaagataa tgatcgcctt gacacccttt ggatcccaaa taaagaatat ttttggggtc
      481 ttagcaaatt tcttggaaca cactggctta tgggcaacat tttgaggtta ctctttggtt
      541 caatgacaac tcctgcaaac tggaattccc ctctgaggcc tggtgaaaaa tatccacttg
      601 ttgttttttc tcatggtctt ggggcattca ggacacttta ttctgctatt ggcattgacc
      661 tggcatctca tgggtttata gttgctgctg tagaacacag agatagatct gcatctgcaa
      721 cttactattt caaggaccaa tctgctgcag aaatagggga caagtcttgg ctctacctta
      781 gaaccctgaa acaagaggag gagacacata tacgaaatga gcaggtacgg caaagagcaa
      841 aagaatgttc ccaagctctc agtctgattc ttgacattga tcatggaaag ccagtgaaga
      901 atgcattaga tttaaagttt gatatggaac aactgaagga ctctattgat agggaaaaaa
      961 tagcagtaat tggacattct tttggtggag caacggttat tcagactctt agtgaagatc
     1021 agagattcag atgtggtatt gccctggatg catggatgtt tccactgggt gatgaagtat
     1081 attccagaat tcctcagccc ctctttttta tcaactctga atatttccaa tatcctgcta
     1141 atatcataaa aatgaaaaaa tgctactcac ctgataaaga aagaaagatg attacaatca
     1201 ggggttcagt ccaccagaat tttgctgact tcacttttgc aactggcaaa ataattggac
     1261 acatgctcaa attaaaggga gacatagatt caaatgtagc tattgatctt agcaacaaag
     1321 cttcattagc attcttacaa aagcatttag gacttcataa agattttgat cagtgggact
     1381 gcttgattga aggagatgat gagaatctta ttccagggac caacattaac acaaccaatc
     1441 aacacatcat gttacagaac tcttcaggaa tagagaaata caattaggat taaaataggt
     1501 ttttt
//



Revised: July 5, 2002.
 
 


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1: NM_000560. Homo sapiens CD53...[gi:21237756] Links  


LOCUS       CD53                    1504 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens CD53 antigen (CD53), mRNA.
ACCESSION   NM_000560
VERSION     NM_000560.2  GI:21237756
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1504)
  AUTHORS   Angelisova,P., Vlcek,C., Stefanova,I., Lipoldova,M. and Horejsi,V.
  TITLE     The human leucocyte surface antigen CD53 is a protein structurally
            similar to the CD37 and MRC OX-44 antigens
  JOURNAL   Immunogenetics 32 (4), 281-285 (1990)
  MEDLINE   91055810
   PUBMED   1700763
REFERENCE   2  (bases 1 to 1504)
  AUTHORS   Amiot,M.
  TITLE     Identification and analysis of cDNA clones encoding CD53. A
            pan-leukocyte antigen related to membrane transport proteins
  JOURNAL   J. Immunol. 145 (12), 4322-4325 (1990)
  MEDLINE   91079522
   PUBMED   2258620
REFERENCE   3  (bases 1 to 1504)
  AUTHORS   Horejsi,V. and Vlcek,C.
  TITLE     Novel structurally distinct family of leucocyte surface
            glycoproteins including CD9, CD37, CD53 and CD63
  JOURNAL   FEBS Lett. 288 (1-2), 1-4 (1991)
  MEDLINE   91348240
   PUBMED   1879540
REFERENCE   4  (bases 1 to 1504)
  AUTHORS   Gonzalez,M.E., Pardo-Manuel de Villena,F., Fernandez-Ruiz,E.,
            Rodriguez de Cordoba,S. and Lazo,P.A.
  TITLE     The human CD53 gene, coding for a four transmembrane domain
            protein, maps to chromosomal region 1p13
  JOURNAL   Genomics 18 (3), 725-728 (1993)
  MEDLINE   94140382
   PUBMED   8307585
REFERENCE   5  (bases 1 to 1504)
  AUTHORS   Korinek,V. and Horejsi,V.
  TITLE     Genomic structure of the human CD53 gene
  JOURNAL   Immunogenetics 38 (4), 272-279 (1993)
  MEDLINE   93307785
   PUBMED   8319976
REFERENCE   6  (bases 1 to 1504)
  AUTHORS   Taguchi,T., Bellacosa,A., Zhou,J.Y., Gilbert,D.J., Lazo,P.A.,
            Copeland,N.G., Jenkins,N.A., Tsichlis,P.N. and Testa,J.R.
  TITLE     Chromosomal localization of the Ox-44 (CD53) leukocyte antigen gene
            in man and rodents
  JOURNAL   Cytogenet. Cell Genet. 64 (3-4), 217-221 (1993)
  MEDLINE   94007965
   PUBMED   8404042
REFERENCE   7  (bases 1 to 1504)
  AUTHORS   Virtaneva,K.I., Angelisova,P., Baumruker,T., Horejsi,V.,
            Nevanlinna,H. and Schroder,J.
  TITLE     The genes for CD37, CD53, and R2, all members of a novel gene
            family, are located on different chromosomes
  JOURNAL   Immunogenetics 37 (6), 461-465 (1993)
  MEDLINE   93170894
   PUBMED   8436422
REFERENCE   8  (bases 1 to 1504)
  AUTHORS   Serru,V., Le Naour,F., Billard,M., Azorsa,D.O., Lanza,F.,
            Boucheix,C. and Rubinstein,E.
  TITLE     Selective tetraspan-integrin complexes (CD81/alpha4beta1,
            CD151/alpha3beta1, CD151/alpha6beta1) under conditions disrupting
            tetraspan interactions
  JOURNAL   Biochem. J. 340 (Pt 1), 103-111 (1999)
  MEDLINE   99247901
   PUBMED   10229664
REFERENCE   9  (bases 1 to 1504)
  AUTHORS   Hernandez-Torres,J., Yunta,M. and Lazo,P.A.
  TITLE     Differential cooperation between regulatory sequences required for
            human CD53 gene expression
  JOURNAL   J. Biol. Chem. 276 (38), 35405-35413 (2001)
  MEDLINE   21443707
   PUBMED   11443129
REFERENCE   10 (bases 1 to 1504)
  AUTHORS   Berditchevski,F.
  TITLE     Complexes of tetraspanins with integrins: more than meets the eye
  JOURNAL   J. Cell. Sci. 114 (Pt 23), 4143-4151 (2001)
  MEDLINE   21601835
   PUBMED   11739647
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M37033.1, L11670.1 and
            L11671.1.
            On May 28, 2002 this sequence version replaced gi:10834971.
            Summary: The protein encoded by this gene is a member of the
            transmembrane 4 superfamily, also known as the tetraspanin family.
            Most of these members are cell-surface proteins that are
            characterized by the presence of four hydrophobic domains. The
            proteins mediate signal transduction events that play a role in the
            regulation of cell development, activation, growth and motility.
            This encoded protein is a cell surface glycoprotein that is known
            to complex with integrins. It contributes to the transduction of
            CD2-generated signals in T cells and natural killer cells and has
            been suggested to play a role in growth regulation. Familial
            deficiency of this gene has been linked to an immunodeficiency
            associated with recurrent infectious diseases caused by bacteria,
            fungi and viruses.
FEATURES             Location/Qualifiers
     source          1..1504
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13"
     gene            1..1504
                     /gene="CD53"
                     /note="MOX44"
                     /db_xref="LocusID:963"
                     /db_xref="MIM:151525"
     misc_feature    4
                     /gene="CD53"
                     /note="alternative transcription initiation site"
                     /evidence=experimental
     misc_feature    7
                     /gene="CD53"
                     /note="alternative transcription initiation site"
                     /evidence=experimental
     misc_feature    22
                     /gene="CD53"
                     /note="alternative transcription initiation site"
                     /evidence=experimental
     variation       complement(69)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3748716"
     CDS             116..775
                     /gene="CD53"
                     /note="leukocyte surface antigen CD53; antigen MOX44
                     identified by monoclonal antibody MRC-OX44; CD53
                     glycoprotein; cell surface antigen; transmembrane
                     glycoprotein; CD53 tetraspan antigen"
                     /codon_start=1
                     /product="CD53 antigen"
                     /protein_id="NP_000551.1"
                     /db_xref="GI:10834972"
                     /db_xref="LocusID:963"
                     /db_xref="MIM:151525"
                     /translation="MGMSSLKLLKYVLFFFNLLFWICGCCILGFGIYLLIHNNFGVLF
                     HNLPSLTLGNVFVIVGSIIMVVAFLGCMGSIKENKCLLMSFFILLLIILLAEVTLAIL
                     LFVYEQKLNEYVAKGLTDSIHRYHSDNSTKAAWDSIQSFLQCCGINGTSDWTSGPPAS
                     CPSDRKVEGCYAKARLWFHSNFLYIGIITICVCVIEVLGMSFALTLNCQIDKTSQTIG
                     L"
     misc_feature    143..745
                     /gene="CD53"
                     /note="Region: pfam00335, transmembrane4, Tetraspanin
                     family"
     polyA_signal    1478..1483
                     /gene="CD53"
     polyA_site      1504
                     /gene="CD53"
                     /evidence=experimental
BASE COUNT      385 a    358 c    323 g    438 t
ORIGIN      
        1 aatagccccg gatatctgtg ttaccagcct tgtctcggcc acctcaagga taatcactaa
       61 attctgccga aaggactgag gaacggtgcc tggaaaaggg caagaatatc acggcatggg
      121 catgagtagc ttgaaactgc tgaagtatgt cctgtttttc ttcaacttgc tcttttggat
      181 ctgtggctgc tgcattttgg gctttgggat ctacctgctg atccacaaca acttcggagt
      241 gctcttccat aacctcccct ccctcacgct gggcaatgtg tttgtcatcg tgggctctat
      301 tatcatggta gttgccttcc tgggctgcat gggctctatc aaggaaaaca agtgtctgct
      361 tatgtcgttc ttcatcctgc tgctgattat cctccttgct gaggtgacct tggccatcct
      421 gctctttgta tatgaacaga agctgaatga gtatgtggct aagggtctga ccgacagcat
      481 ccaccgttac cactcagaca atagcaccaa ggcagcgtgg gactccatcc agtcatttct
      541 gcagtgttgt ggtataaatg gcacgagtga ttggaccagt ggcccaccag catcttgccc
      601 ctcagatcga aaagtggagg gttgctatgc gaaagcaaga ctgtggtttc attccaattt
      661 cctgtatatc ggaatcatca ccatctgtgt atgtgtgatt gaggtgttgg ggatgtcctt
      721 tgcactgacc ctgaactgcc agattgacaa aaccagccag accatagggc tatgatctgc
      781 agtagttctg tggtgaagag acttgtttca tctccggaaa tgcaaaacca tttatagcat
      841 gaagccctac atgatcactg caggatgatc ctcctcccat cctttccctt tttaggtccc
      901 tgtcttatac aaccagagaa gtgggtgttg gccaggcaca tcccatctca ggcagcaaga
      961 caatctttca ctcactgacg gcagcagcca tgtctctcaa agtggtgaaa ctaatatctg
     1021 agcatctttt agacaagaga ggcaaagaca aactggattt aatggcccaa catcaaaggg
     1081 tgaacccagg atatgaattt ttgcatcttc ccattgtcga attagtctcc agcctctaaa
     1141 taatgcccag tcttctcccc aaagtcaagc aagagactag ttgaagggag ttctggggcc
     1201 aggctcactg gaccattgtc acaaccctct gtttctcttt gactaagtgc cctggctaca
     1261 ggaattacac agttctcttt ctccaaaggg caagatctca tttcaatttc tttattagag
     1321 ggccttattg atgtgttcta agtctttcca gaaaaaaact atccagtgat ttatatcctg
     1381 atttcaacca gtcacttagc tgataatcac agtaagaaga cttctggtat tatctctcta
     1441 tcagataaga ttttgttaat gtactatttt actcttcaat aaataaaaca gtttattatc
     1501 tcaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_000877. Homo sapiens inte...[gi:4504658] Links  


LOCUS       IL1R1                   4910 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.
ACCESSION   NM_000877
VERSION     NM_000877.1  GI:4504658
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4910)
  AUTHORS   Sims,J.E., Acres,R.B., Grubin,C.E., McMahan,C.J., Wignall,J.M.,
            March,C.J. and Dower,S.K.
  TITLE     Cloning the interleukin 1 receptor from human T cells
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 86 (22), 8946-8950 (1989)
  MEDLINE   90046906
   PUBMED   2530587
REFERENCE   2  (bases 1 to 4910)
  AUTHORS   Chua AO and Gubler U.
  TITLE     Sequence of the cDNA for the human fibroblast type interleukin-1
            receptor
  JOURNAL   Nucleic Acids Res. 17 (23), 10114 (1989)
  MEDLINE   90098789
   PUBMED   2532321
REFERENCE   3  (bases 1 to 4910)
  AUTHORS   Copeland NG, Silan CM, Kingsley DM, Jenkins NA, Cannizzaro LA,
            Croce CM, Huebner K and Sims JE.
  TITLE     Chromosomal location of murine and human IL-1 receptor genes
  JOURNAL   Genomics 9 (1), 44-50 (1991)
  MEDLINE   91169515
   PUBMED   1672292
REFERENCE   4  (bases 1 to 4910)
  AUTHORS   McMahan CJ, Slack JL, Mosley B, Cosman D, Lupton SD, Brunton LL,
            Grubin CE, Wignall JM, Jenkins NA, Brannan CI et al.
  TITLE     A novel IL-1 receptor, cloned from B cells by mammalian expression,
            is expressed in many cell types
  JOURNAL   EMBO J. 10 (10), 2821-2832 (1991)
  MEDLINE   92007725
   PUBMED   1833184
REFERENCE   5  (bases 1 to 4910)
  AUTHORS   Dale M and Nicklin MJ.
  TITLE     Interleukin-1 receptor cluster: gene organization of IL1R2, IL1R1,
            IL1RL2 (IL-1Rrp2), IL1RL1 (T1/ST2), and IL18R1 (IL-1Rrp) on human
            chromosome 2q
  JOURNAL   Genomics 57 (1), 177-179 (1999)
  MEDLINE   99208678
   PUBMED   10191101
REFERENCE   6  (bases 1 to 4910)
  AUTHORS   Sims,J.E., Grubin,C.E. and McMahan,C.J.
  JOURNAL   Unpublished
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from M27492.1.
FEATURES             Location/Qualifiers
     source          1..4910
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q12"
     gene            1..4910
                     /gene="IL1R1"
                     /note="IL1RA; D2S1473"
                     /db_xref="LocusID:3554"
                     /db_xref="MIM:147810"
     CDS             83..1792
                     /gene="IL1R1"
                     /codon_start=1
                     /product="interleukin 1 receptor, type I"
                     /protein_id="NP_000868.1"
                     /db_xref="GI:4504659"
                     /db_xref="LocusID:3554"
                     /db_xref="MIM:147810"
                     /translation="MKVLLRLICFIALLISSLEADKCKEREEKIILVSSANEIDVRPC
                     PLNPNEHKGTITWYKDDSKTPVSTEQASRIHQHKEKLWFVPAKVEDSGHYYCVVRNSS
                     YCLRIKISAKFVENEPNLCYNAQAIFKQKLPVAGDGGLVCPYMEFFKNENNELPKLQW
                     YKDCKPLLLDNIHFSGVKDRLIVMNVAEKHRGNYTCHASYTYLGKQYPITRVIEFITL
                     EENKPTRPVIVSPANETMEVDLGSQIQLICNVTGQLSDIAYWKWNGSVIDEDDPVLGE
                     DYYSVENPANKRRSTLITVLNISEIESRFYKHPFTCFAKNTHGIDAAYIQLIYPVTNF
                     QKHMIGICVTLTVIIVCSVFIYKIFKIDIVLWYRDSCYDFLPIKASDGKTYDAYILYP
                     KTVGEGSTSDCDIFVFKVLPEVLEKQCGYKLFIYGRDDYVGEDIVEVINENVKKSRRL
                     IIILVRETSGFSWLGGSSEEQIAMYNALVQDGIKVVLLELEKIQDYEKMPESIKFIKQ
                     KHGAIRWSGDFTQGPQSAKTRFWKNVRYHMPVQRRSPSSKHQLLSPATKEKLQREAHV
                     PLG"
     sig_peptide     83..133
                     /gene="IL1R1"
     mat_peptide     134..1789
                     /gene="IL1R1"
                     /product="interleukin 1 receptor, type I"
     misc_feature    212..385
                     /gene="IL1R1"
                     /note="IG; Region: Immunoglobulin"
                     /db_xref="CDD:IG"
     misc_feature    533..679
                     /gene="IL1R1"
                     /note="IG; Region: Immunoglobulin"
                     /db_xref="CDD:IG"
     misc_feature    1235..1615
                     /gene="IL1R1"
                     /note="TIR; Region: Toll - interleukin 1 - resistance"
                     /db_xref="CDD:TIR"
     misc_feature    1241..1702
                     /gene="IL1R1"
                     /note="TIR; Region: TIR domain"
                     /db_xref="CDD:pfam01582"
     variation       453
                     /gene="IL1R1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2228139"
     variation       complement(2790)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3732134"
     variation       complement(2851)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3732133"
     variation       complement(2855)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2110726"
     variation       complement(2855)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3732132"
     variation       complement(3176)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3732131"
     variation       complement(3178)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3732130"
BASE COUNT     1426 a   1044 c   1044 g   1396 t
ORIGIN      
        1 tagacgcacc ctctgaagat ggtgactccc tcctgagaag ctggacccct tggtaaaaga
       61 caaggccttc tccaagaaga atatgaaagt gttactcaga cttatttgtt tcatagctct
      121 actgatttct tctctggagg ctgataaatg caaggaacgt gaagaaaaaa taattttagt
      181 gtcatctgca aatgaaattg atgttcgtcc ctgtcctctt aacccaaatg aacacaaagg
      241 cactataact tggtataaag atgacagcaa gacacctgta tctacagaac aagcctccag
      301 gattcatcaa cacaaagaga aactttggtt tgttcctgct aaggtggagg attcaggaca
      361 ttactattgc gtggtaagaa attcatctta ctgcctcaga attaaaataa gtgcaaaatt
      421 tgtggagaat gagcctaact tatgttataa tgcacaagcc atatttaagc agaaactacc
      481 cgttgcagga gacggaggac ttgtgtgccc ttatatggag ttttttaaaa atgaaaataa
      541 tgagttacct aaattacagt ggtataagga ttgcaaacct ctacttcttg acaatataca
      601 ctttagtgga gtcaaagata ggctcatcgt gatgaatgtg gctgaaaagc atagagggaa
      661 ctatacttgt catgcatcct acacatactt gggcaagcaa tatcctatta cccgggtaat
      721 agaatttatt actctagagg aaaacaaacc cacaaggcct gtgattgtga gcccagctaa
      781 tgagacaatg gaagtagact tgggatccca gatacaattg atctgtaatg tcaccggcca
      841 gttgagtgac attgcttact ggaagtggaa tgggtcagta attgatgaag atgacccagt
      901 gctaggggaa gactattaca gtgtggaaaa tcctgcaaac aaaagaagga gtaccctcat
      961 cacagtgctt aatatatcgg aaattgaaag tagattttat aaacatccat ttacctgttt
     1021 tgccaagaat acacatggta tagatgcagc atatatccag ttaatatatc cagtcactaa
     1081 tttccagaag cacatgattg gtatatgtgt cacgttgaca gtcataattg tgtgttctgt
     1141 tttcatctat aaaatcttca agattgacat tgtgctttgg tacagggatt cctgctatga
     1201 ttttctccca ataaaagctt cagatggaaa gacctatgac gcatatatac tgtatccaaa
     1261 gactgttggg gaagggtcta cctctgactg tgatattttt gtgtttaaag tcttgcctga
     1321 ggtcttggaa aaacagtgtg gatataagct gttcatttat ggaagggatg actacgttgg
     1381 ggaagacatt gttgaggtca ttaatgaaaa cgtaaagaaa agcagaagac tgattatcat
     1441 tttagtcaga gaaacatcag gcttcagctg gctgggtggt tcatctgaag agcaaatagc
     1501 catgtataat gctcttgttc aggatggaat taaagttgtc ctgcttgagc tggagaaaat
     1561 ccaagactat gagaaaatgc cagaatcgat taaattcatt aagcagaaac atggggctat
     1621 ccgctggtca ggggacttta cacagggacc acagtctgca aagacaaggt tctggaagaa
     1681 tgtcaggtac cacatgccag tccagcgacg gtcaccttca tctaaacacc agttactgtc
     1741 accagccact aaggagaaac tgcaaagaga ggctcacgtg cctctcgggt agcatggaga
     1801 agttgccaag agttctttag gtgcctcctg tcttatggcg ttgcaggcca ggttatgcct
     1861 catgctgact tgcagagttc atggaatgta actatatcat cctttatccc tgaggtcacc
     1921 tggaatcaga ttattaaggg aataagccat gacgtcaata gcagcccagg gcacttcaga
     1981 gtagagggct tgggaagatc ttttaaaaag gcagtaggcc cggtgtggtg gctcacgcct
     2041 ataatcccag cactttggga ggctgaagtg ggtggatcac cagaggtcag gagttcgaga
     2101 ccagcccagc caacatggca aaaccccatc tctactaaaa atacaaaaat gagctaggca
     2161 tggtggcaca cgcctgtaat cccagctaca cctgaggctg aggcaggaga attgcttgaa
     2221 ccggggagac ggaggttgca gtgagccgag tttgggccac tgcactctag cctggcaaca
     2281 gagcaagact ccgtctcaaa aaaagggcaa taaatgccct ctctgaatgt ttgaactgcc
     2341 aagaaaaggc atggagacag cgaactagaa gaaagggcaa gaaggaaata gccaccgtct
     2401 acagatggct tagttaagtc atccacagcc caagggcggg gctatgcctt gtctggggac
     2461 cctgtagagt cactgaccct ggagcggctc tcctgagagg tgctgcaggc aaagtgagac
     2521 tgacacctca ctgaggaagg gagacatatt cttggagaac tttccatctg cttgtatttt
     2581 ccatacacat ccccagccag aagttagtgt ccgaagaccg aattttattt tacagagctt
     2641 gaaaactcac ttcaatgaac aaagggattc tccaggattc caaagttttg aagtcatctt
     2701 agctttccac aggagggaga gaacttaaaa aagcaacagt agcagggaat tgatccactt
     2761 cttaatgctt tcctccctgg catgaccatc ctgtcctttg ttattatcct gcattttacg
     2821 tctttggagg aacagctccc tagtggcttc ctccgtctgc aatgtccctt gcacagccca
     2881 cacatgaacc atccttccca tgatgccgct cttctgtcat cccgctcctg ctgaaacacc
     2941 tcccaggggc tccacctgtt caggagctga agcccatgct ttcccaccag catgtcactc
     3001 ccagaccacc tccctgccct gtcctccagc ttcccctcgc tgtcctgctg tgtgaattcc
     3061 caggttggcc tggtggccat gtcgcctgcc cccagcactc ctctgtctct gctcttgcct
     3121 cgacccttcc tcctcctttg cctaggaggc cttctcgcat tttctctagc tgatcagaat
     3181 tttaccaaaa ttcagaacat cctccaattc cacagtctct gggagacttt ccctaagagg
     3241 cgacttcctc tccagccttc tctctctggt caggcccact gcagagatgg tggtgagcac
     3301 atctgggagg ctggtctccc tccagctgga attgctgctc tctgagggag aggctgtggt
     3361 ggctgtctct gtccctcact gccttccagg agcaatttgc acatgtaaca tagatttatg
     3421 taatgcttta tgtttaaaaa cattccccaa ttatcttatt taatttttgc aattattcta
     3481 attttatata tagagaaagt gacctatttt ttaaaaaaat cacactctaa gttctattga
     3541 acctaggact tgagcctcca tttctggctt ctagtctggt gttctgagta cttgatttca
     3601 ggtcaataac ggtcccccct cactccacac tggcacgttt gtgagaagaa atgacatttt
     3661 gctaggaagt gaccgagtct aggaatgctt ttattcaaga caccaaattc caaacttcta
     3721 aatgttggaa ttttcaaaaa ttgtgtttag attttatgaa aaactcttct actttcatct
     3781 attctttccc tagaggcaaa catttcttaa aatgtttcat tttcattaaa aatgaaagcc
     3841 aaatttatat gccaccgatt gcaggacaca agcacagttt taagagttgt atgaacatgg
     3901 agaggacttt tggtttttat atttctcgta tttaatatgg gtgaacacca acttttattt
     3961 ggaataataa ttttcctcct aaacaaaaac acattgagtt taagtctctg actcttgcct
     4021 ttccacctgc tttctcctgg gcccgctttg cctgcttgaa ggaacagtgc tgttctggag
     4081 ctgctgttcc aacagacagg gcctagcttt catttgacac acagactaca gccagaagcc
     4141 catggagcag ggatgtcacg tcttgaaaag cctattagat gttttacaaa tttaattttg
     4201 cagattattt tagtctgtca tccagaaaat gtgtcagcat gcatagtgct aagaaagcaa
     4261 gccaatttgg aaacttaggt tagtgacaaa attggccaga gagtgggggt gatgatgacc
     4321 aagaattaca agtagaatgg cagctggaat ttaaggaggg acaagaatca atggataagc
     4381 gtgggtggag gaagatccaa acagaaaagt gcaaagttat tccccatctt ccaagggttg
     4441 aattctggag gaagaagaca cattcctagt tccccgtgaa cttcctttga cttattgtcc
     4501 ccactaaaac aaaacaaaaa acttttaatg ccttccacat taattagatt ttcttgcagt
     4561 ttttttatgg cattttttta aagatgccct aagtgttgaa gaagagtttg caaatgcaac
     4621 aaaaatattt aattaccggt tgttaaaact ggtttagcac aatttatatt ttccctctct
     4681 tgcctttctt atttgcaata aaaggtattg agccattttt taaatgacat ttttgataaa
     4741 ttatgtttgt actagttgat gaaggagttt tttttaacct gtttatataa ttttgcagca
     4801 gaagccaaat tttttgtata ttaaagcacc aaattcatgt acagcatgca tcacggatca
     4861 atagactgta cttattttcc aataaaattt tcaaactttg tactgttaaa 
//



Revised: July 5, 2002.
 
 


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1: NM_000418. Homo sapiens inte...[gi:4557668] Links  


LOCUS       IL4R                    3597 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens interleukin 4 receptor (IL4R), mRNA.
ACCESSION   NM_000418
VERSION     NM_000418.1  GI:4557668
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3597)
  AUTHORS   Idzerda,R.L., March,C.J., Mosley,B., Lyman,S.D., Bos,T.V.,
            Gimpel,S.D., Din,W.S., Grabstein,K.H., Widmer,M.B., Park,L.S.,
            Cosman,D. and Beckmann,M.P.
  TITLE     Human interleukin 4 receptor confers biological responsiveness and
            defines a novel receptor superfamily
  JOURNAL   J. Exp. Med. 171 (3), 861-873 (1990)
  MEDLINE   90171849
   PUBMED   2307934
REFERENCE   2  (bases 1 to 3597)
  AUTHORS   Pritchard MA, Baker E, Whitmore SA, Sutherland GR, Idzerda RL, Park
            LS, Cosman D, Jenkins NA, Gilbert DJ, Copeland NG et al.
  TITLE     The interleukin-4 receptor gene (IL4R) maps to 16p11.2-16p12.1 in
            human and to the distal region of mouse chromosome 7
  JOURNAL   Genomics 10 (3), 801-806 (1991)
  MEDLINE   91365391
   PUBMED   1679753
REFERENCE   3  (bases 1 to 3597)
  AUTHORS   Loftus BJ, Kim UJ, Sneddon VP, Kalush F, Brandon R, Fuhrmann J,
            Mason T, Crosby ML, Barnstead M, Cronin L, Deslattes Mays A, Cao Y,
            Xu RX, Kang HL, Mitchell S, Eichler EE, Harris PC, Venter JC and
            Adams MD.
  TITLE     Genome duplications and other features in 12 Mb of DNA sequence
            from human chromosome 16p and 16q
  JOURNAL   Genomics 60 (3), 295-308 (1999)
  MEDLINE   99425270
   PUBMED   10493829
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X52425.1.
            Summary:  IL4R when complexed with the common gamma chain (IL2RG)
            serves as the high-affinity interleukin 4 (IL4) receptor.
            COMPLETENESS: incomplete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3597
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2-12.1"
                     /cell_type="T cell, tissue=peripheral blood, clone=T22-8"
     gene            1..3597
                     /gene="IL4R"
                     /note="CD124; IL4RA"
                     /db_xref="LocusID:3566"
                     /db_xref="MIM:147781"
     CDS             176..2653
                     /gene="IL4R"
                     /codon_start=1
                     /product="interleukin 4 receptor precursor"
                     /protein_id="NP_000409.1"
                     /db_xref="GI:4557669"
                     /db_xref="LocusID:3566"
                     /db_xref="MIM:147781"
                     /translation="MGWLCSGLLFPVSCLVLLQVASSGNMKVLQEPTCVSDYMSISTC
                     EWKMNGPTNCSTELRLLYQLVFLLSEAHTCIPENNGGAGCVCHLLMDDVVSADNYTLD
                     LWAGQQLLWKGSFKPSEHVKPRAPGNLTVHTNVSDTLLLTWSNPYPPDNYLYNHLTYA
                     VNIWSENDPADFRIYNVTYLEPSLRIAASTLKSGISYRARVRAWAQCYNTTWSEWSPS
                     TKWHNSYREPFEQHLLLGVSVSCIVILAVCLLCYVSITKIKKEWWDQIPNPARSRLVA
                     IIIQDAQGSQWEKRSRGQEPAKCPHWKNCLTKLLPCFLEHNMKRDEDPHKAAKEMPFQ
                     GSGKSAWCPVEISKTVLWPESISVVRCVELFEAPVECEEEEEVEEEKGSFCASPESSR
                     DDFQEGREGIVARLTESLFLDLLGEENGGFCQQDMGESCLLPPSGSTSAHMPWDEFPS
                     AGPKEAPPWGKEQPLHLEPSPPASPTQSPDNLTCTETPLVIAGNPAYRSFSNSLSQSP
                     CPRELGPDPLLARHLEEVEPEMPCVPQLSEPTTVPQPEPETWEQILRRNVLQHGAAAA
                     PVSAPTSGYQEFVHAVEQGGTQASAVVGLGPPGEAGYKAFSSLLASSAVSPEKCGFGA
                     SSGEEGYKPFQDLIPGCPGDPAPVPVPLFTFGLDREPPRSPQSSHLPSSSPEHLGLEP
                     GEKVEDMPKPPLPQEQATDPLVDSLGSGIVYSALTCHLCGHLKQCHGQEDGGQTPVMA
                     SPCCGCCCGDRSSPPTTPLRAPDPSPGGVPLEASLCPASLAPSGISEKSKSSSSFHPA
                     PGNAQSSSQTPKIVNFVSVGPTYMRVS"
     sig_peptide     176..250
                     /gene="IL4R"
     mat_peptide     251..2650
                     /gene="IL4R"
                     /product="interleukin 4 receptor"
     misc_feature    542..814
                     /gene="IL4R"
                     /note="fn3; Region: Fibronectin type III domain"
                     /db_xref="CDD:pfam00041"
     variation       676
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2234895"
     variation       1374
                     /gene="IL4R"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1805011"
     variation       1417
                     /gene="IL4R"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:2234898"
     variation       1466
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1805012"
     variation       1468
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2234899"
     variation       1471
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2234923"
     variation       1474
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2234900"
     variation       1482
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1805013"
     variation       1682
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1805015"
     variation       1902
                     /gene="IL4R"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1801275"
     variation       1910
                     /gene="IL4R"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3024677"
     variation       2198
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3024678"
     variation       2429
                     /gene="IL4R"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1805016"
     variation       2572
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3024679"
     variation       complement(2659)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2074570"
     variation       2661
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3024680"
     variation       2702
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3024681"
     variation       2741
                     /gene="IL4R"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2234924"
     variation       2925
                     /gene="IL4R"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3024682"
     variation       2935
                     /gene="IL4R"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3024683"
     variation       3044
                     /gene="IL4R"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1049631"
     variation       3289
                     /gene="IL4R"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:8832"
     variation       complement(3289)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3760093"
     variation       3391
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:8674"
     polyA_signal    3579..3584
                     /gene="IL4R"
BASE COUNT      794 a   1034 c   1039 g    730 t
ORIGIN      
        1 ggcgaatgga gcaggggcgc gcagataatt aaagatttac acacagctgg aagaaatcat
       61 agagaagccg ggcgtggtgg ctcatgccta taatcccagc acttttggag gctgaggcgg
      121 gcagatcact tgagatcagg agttcgagac cagcctggtg ccttggcatc tcccaatggg
      181 gtggctttgc tctgggctcc tgttccctgt gagctgcctg gtcctgctgc aggtggcaag
      241 ctctgggaac atgaaggtct tgcaggagcc cacctgcgtc tccgactaca tgagcatctc
      301 tacttgcgag tggaagatga atggtcccac caattgcagc accgagctcc gcctgttgta
      361 ccagctggtt tttctgctct ccgaagccca cacgtgtatc cctgagaaca acggaggcgc
      421 ggggtgcgtg tgccacctgc tcatggatga cgtggtcagt gcggataact atacactgga
      481 cctgtgggct gggcagcagc tgctgtggaa gggctccttc aagcccagcg agcatgtgaa
      541 acccagggcc ccaggaaacc tgacagttca caccaatgtc tccgacactc tgctgctgac
      601 ctggagcaac ccgtatcccc ctgacaatta cctgtataat catctcacct atgcagtcaa
      661 catttggagt gaaaacgacc cggcagattt cagaatctat aacgtgacct acctagaacc
      721 ctccctccgc atcgcagcca gcaccctgaa gtctgggatt tcctacaggg cacgggtgag
      781 ggcctgggct cagtgctata acaccacctg gagtgagtgg agccccagca ccaagtggca
      841 caactcctac agggagccct tcgagcagca cctcctgctg ggcgtcagcg tttcctgcat
      901 tgtcatcctg gccgtctgcc tgttgtgcta tgtcagcatc accaagatta agaaagaatg
      961 gtgggatcag attcccaacc cagcccgcag ccgcctcgtg gctataataa tccaggatgc
     1021 tcaggggtca cagtgggaga agcggtcccg aggccaggaa ccagccaagt gcccacactg
     1081 gaagaattgt cttaccaagc tcttgccctg ttttctggag cacaacatga aaagggatga
     1141 agatcctcac aaggctgcca aagagatgcc tttccagggc tctggaaaat cagcatggtg
     1201 cccagtggag atcagcaaga cagtcctctg gccagagagc atcagcgtgg tgcgatgtgt
     1261 ggagttgttt gaggccccgg tggagtgtga ggaggaggag gaggtagagg aagaaaaagg
     1321 gagcttctgt gcatcgcctg agagcagcag ggatgacttc caggagggaa gggagggcat
     1381 tgtggcccgg ctaacagaga gcctgttcct ggacctgctc ggagaggaga atgggggctt
     1441 ttgccagcag gacatggggg agtcatgcct tcttccacct tcgggaagta cgagtgctca
     1501 catgccctgg gatgagttcc caagtgcagg gcccaaggag gcacctccct ggggcaagga
     1561 gcagcctctc cacctggagc caagtcctcc tgccagcccg acccagagtc cagacaacct
     1621 gacttgcaca gagacgcccc tcgtcatcgc aggcaaccct gcttaccgca gcttcagcaa
     1681 ctccctgagc cagtcaccgt gtcccagaga gctgggtcca gacccactgc tggccagaca
     1741 cctggaggaa gtagaacccg agatgccctg tgtcccccag ctctctgagc caaccactgt
     1801 gccccaacct gagccagaaa cctgggagca gatcctccgc cgaaatgtcc tccagcatgg
     1861 ggcagctgca gcccccgtct cggcccccac cagtggctat caggagtttg tacatgcggt
     1921 ggagcagggt ggcacccagg ccagtgcggt ggtgggcttg ggtcccccag gagaggctgg
     1981 ttacaaggcc ttctcaagcc tgcttgccag cagtgctgtg tccccagaga aatgtgggtt
     2041 tggggctagc agtggggaag aggggtataa gcctttccaa gacctcattc ctggctgccc
     2101 tggggaccct gccccagtcc ctgtcccctt gttcaccttt ggactggaca gggagccacc
     2161 tcgcagtccg cagagctcac atctcccaag cagctcccca gagcacctgg gtctggagcc
     2221 gggggaaaag gtagaggaca tgccaaagcc cccacttccc caggagcagg ccacagaccc
     2281 ccttgtggac agcctgggca gtggcattgt ctactcagcc cttacctgcc acctgtgcgg
     2341 ccacctgaaa cagtgtcatg gccaggagga tggtggccag acccctgtca tggccagtcc
     2401 ttgctgtggc tgctgctgtg gagacaggtc ctcgccccct acaacccccc tgagggcccc
     2461 agacccctct ccaggtgggg ttccactgga ggccagtctg tgtccggcct ccctggcacc
     2521 ctcgggcatc tcagagaaga gtaaatcctc atcatccttc catcctgccc ctggcaatgc
     2581 tcagagctca agccagaccc ccaaaatcgt gaactttgtc tccgtgggac ccacatacat
     2641 gagggtctct taggtgcatg tcctcttgtt gctgagtctg cagatgagga ctagggctta
     2701 tccatgcctg ggaaatgcca cctcctggaa ggcagccagg ctggcagatt tccaaaagac
     2761 ttgaagaacc atggtatgaa ggtgattggc cccactgacg ttggcctaac actgggctgc
     2821 agagactgga ccccgcccag cattgggctg ggctcgccac atcccatgag agtagagggc
     2881 actgggtcgc cgtgccccac ggcaggcccc tgcaggaaaa ctgaggccct tgggcacctc
     2941 gacttgtgaa cgagttgttg gctgctccct ccacagcttc tgcagcagac tgtccctgtt
     3001 gtaactgccc aaggcatgtt ttgcccacca gatcatggcc cacgtggagg cccacctgcc
     3061 tctgtctcac tgaactagaa gccgagccta gaaactaaca cagccatcaa gggaatgact
     3121 tgggcggcct tgggaaatcg atgagaaatt gaacttcagg gagggtggtc attgcctaga
     3181 ggtgctcatt catttaacag agcttcctta ggttgatgct ggaggcagaa tcccggctgt
     3241 caaggggtgt tcagttaagg ggagcaacag aggacatgaa aaattgctat gactaaagca
     3301 gggacaattt gctgccaaac acccatgccc agctgtatgg ctgggggctc ctcgtatgca
     3361 tggaaccccc agaataaata tgctcagcca ccctgtgggc cgggcaatcc agacagcagg
     3421 cataaggcac cagttaccct gcatgttggc ccagacctca ggtgctaggg aaggcgggaa
     3481 ccttgggttg agtaatgctc gtctgtgtgt tttagtttca tcacctgtta tctgtgtttg
     3541 ctgaggagag tggaacagaa ggggtggagt tttgtataaa taaagtttct ttgtctc
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&


    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001251. Homo sapiens CD68...[gi:4557434] Links  


LOCUS       CD68                    1722 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens CD68 antigen (CD68), mRNA.
ACCESSION   NM_001251
VERSION     NM_001251.1  GI:4557434
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1722)
  AUTHORS   Holness,C.L. and Simmons,D.L.
  TITLE     Molecular cloning of CD68, a human macrophage marker related to
            lysosomal glycoproteins
  JOURNAL   Blood 81 (6), 1607-1613 (1993)
  MEDLINE   93200523
   PUBMED   7680921
REFERENCE   2  (bases 1 to 1722)
  AUTHORS   Jones,E., Quinn,C.M., See,C.G., Montgomery,D.S., Ford,M.J.,
            Kolble,K., Gordon,S. and Greaves,D.R.
  TITLE     The linked human elongation initiation factor 4A1 (EIF4A1) and CD68
            genes map to chromosome 17p13
  JOURNAL   Genomics 53 (2), 248-250 (1998)
  MEDLINE   99009345
   PUBMED   9790779
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from S57235.1.
            Summary: CD68 is a 110-kD transmembrane glycoprotein that is highly
            expressed by human monocytes and tissue macrophages.  It is a type
            I integral membrane protein with a heavily glycosylated
            extracellular domain.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1722
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13"
                     /cell_line="promonocyte cell line U937"
     gene            1..1722
                     /gene="CD68"
                     /db_xref="LocusID:968"
                     /db_xref="MIM:153634"
     CDS             16..1080
                     /gene="CD68"
                     /note="Macrophage antigen CD68 (microsialin)"
                     /codon_start=1
                     /product="CD68 antigen"
                     /protein_id="NP_001242.1"
                     /db_xref="GI:4557435"
                     /db_xref="LocusID:968"
                     /db_xref="MIM:153634"
                     /translation="MRLAVLFSGALLGLLAAQGTGNDCPHKKSATLLPSFTVTPTVTE
                     STGTTSHRTTKSHKTTTHRTTTTGTTSHGPTTATHNPTTTSHGNVTVHPTSNSTATSQ
                     GPSTATHSPATTSHGNATVHPTSNSTATSPGFTSSAHPEPPPPSPSPSPTSKETIGDY
                     TWTNGSQPCVHLQAQIQIRVMYTTQGGGEAWGISVLNPNKTKVQGSCEGAHPHLLLSF
                     PYGHLSFGFMQDLQQKVVYLSYMAVEYNVSFPHAAKWTFSAQNASLRDLQAPLGQSFS
                     CSNSSIILSPAVHLDLLSLRLQAAQLPHTGVFGQSFSCPSDRSILLPLIIGLILLGLL
                     ALVLIAFCIIRRRPSAYQAL"
     misc_feature    268..1077
                     /gene="CD68"
                     /note="Lamp; Region: Lysosome-associated membrane
                     glycoprotein (Lamp)"
                     /db_xref="CDD:pfam01299"
     variation       775
                     /gene="CD68"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:25679"
     variation       775
                     /gene="CD68"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3206418"
     variation       1033
                     /gene="CD68"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:17607"
     variation       1156
                     /gene="CD68"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1065396"
     variation       1157
                     /gene="CD68"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1065397"
BASE COUNT      435 a    539 c    401 g    347 t
ORIGIN      
        1 gcgggcggtt cagccatgag gctggctgtg cttttctcgg gggccctgct ggggctactg
       61 gcagcccagg ggacagggaa tgactgtcct cacaaaaaat cagctacttt gctgccatcc
      121 ttcacggtga cacccacggt tacagagagc actggaacaa ccagccacag gactaccaag
      181 agccacaaaa ccaccactca caggacaacc accacaggca ccaccagcca cggacccacg
      241 actgccactc acaaccccac caccaccagc catggaaacg tcacagttca tccaacaagc
      301 aatagcactg ccaccagcca gggaccctca actgccactc acagtcctgc caccactagt
      361 catggaaatg ccacggttca tccaacaagc aacagcactg ccaccagccc aggattcacc
      421 agttctgccc acccagaacc acctccaccc tctccgagtc ctagcccaac ctccaaggag
      481 accattggag actacacgtg gaccaatggt tcccagccct gtgtccacct ccaagcccag
      541 attcagattc gagtcatgta cacaacccag ggtggaggag aggcctgggg catctctgta
      601 ctgaacccca acaaaaccaa ggtccaggga agctgtgagg gtgcccatcc ccacctgctt
      661 ctctcattcc cctatggaca cctcagcttt ggattcatgc aggacctcca gcagaaggtt
      721 gtctacctga gctacatggc ggtggagtac aatgtgtcct tcccccacgc agcaaagtgg
      781 acattctcgg ctcagaatgc atcccttcga gatctccaag cacccctggg gcagagcttc
      841 agttgcagca actcgagcat cattctttca ccagctgtcc acctcgacct gctctccctg
      901 aggctccagg ctgctcagct gccccacaca ggggtctttg ggcaaagttt ctcctgcccc
      961 agtgaccggt ccatcttgct gcctctcatc atcggcctga tccttcttgg cctcctcgcc
     1021 ctggtgctta ttgctttctg catcatccgg agacgcccat ccgcctacca ggccctctga
     1081 gcatttgctt caaaccccag ggcactgagg gggtttgggg tgtggtgggg gggtaccctt
     1141 atttcctcga cacgccgctg gctcaaagac aatgttattt tccttccctt tcttgaagaa
     1201 caaaaagaaa gccgggcatg acggctcatg cctgtaatcc cagcactttg ggaggctgag
     1261 gcaggtggat cactggaggt caggtctttg aggccagccc tagccaacat ggtgtaaaca
     1321 ctgtctctac taaaaataca attagccagg tgtggcggcg taatcccatg ctaacctgta
     1381 atcccagcta cttgggaggc tgaggcagag ctgcttgaac cctggaagtg gaggttgcag
     1441 tgagcctgtc atcgctccac tgagccaaga tcgctcccac tgcactccag cctgggcgac
     1501 agagccagac tgtctcaaat aaataaatat gagataatgc agtcgggaga agggagggag
     1561 agaattttat taaatgtgac gaactgcccc cccccccccc cccagcagga gagcagcaaa
     1621 atttatgtaa atctttgacg gggttttcct tgctcctgcc aggattaaaa gtccatgagt
     1681 ttcttgctca aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aa
//



Revised: July 5, 2002.
 
 


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1: NM_000647. Homo sapiens chem...[gi:15451896] Links  


LOCUS       CCR2                    2273 bp    mRNA    linear   PRI 06-SEP-2001
DEFINITION  Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript
            variant A, mRNA.
ACCESSION   NM_000647
VERSION     NM_000647.3  GI:15451896
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2273)
  AUTHORS   Charo,I.F., Myers,S.J., Herman,A., Franci,C., Connolly,A.J. and
            Coughlin,S.R.
  TITLE     Molecular cloning and functional expression of two monocyte
            chemoattractant protein 1 receptors reveals alternative splicing of
            the carboxyl-terminal tails
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 91 (7), 2752-2756 (1994)
  MEDLINE   94195821
   PUBMED   8146186
REFERENCE   2  (bases 1 to 2273)
  AUTHORS   Yamagami,S., Tokuda,Y., Ishii,K., Tanaka,H. and Endo,N.
  TITLE     cDNA cloning and functional expression of a human monocyte
            chemoattractant protein 1 receptor
  JOURNAL   Biochem. Biophys. Res. Commun. 202 (2), 1156-1162 (1994)
  MEDLINE   94324942
   PUBMED   8048929
REFERENCE   3  (bases 1 to 2273)
  AUTHORS   Combadiere,C., Ahuja,S.K., Van Damme,J., Tiffany,H.L., Gao,J.L. and
            Murphy,P.M.
  TITLE     Monocyte chemoattractant protein-3 is a functional ligand for CC
            chemokine receptors 1 and 2B
  JOURNAL   J. Biol. Chem. 270 (50), 29671-29675 (1995)
  MEDLINE   96102011
   PUBMED   8530354
REFERENCE   4  (bases 1 to 2273)
  AUTHORS   Samson,M., Soularue,P., Vassart,G. and Parmentier,M.
  TITLE     The genes encoding the human CC-chemokine receptors CC-CKR1 to
            CC-CKR5 (CMKBR1-CMKBR5) are clustered in the p21.3-p24 region of
            chromosome 3
  JOURNAL   Genomics 36 (3), 522-526 (1996)
  MEDLINE   97038695
   PUBMED   8884276
REFERENCE   5  (bases 1 to 2273)
  AUTHORS   Wong,L.M., Myers,S.J., Tsou,C.L., Gosling,J., Arai,H. and
            Charo,I.F.
  TITLE     Organization and differential expression of the human monocyte
            chemoattractant protein 1 receptor gene. Evidence for the role of
            the carboxyl-terminal tail in receptor trafficking
  JOURNAL   J. Biol. Chem. 272 (2), 1038-1045 (1997)
  MEDLINE   97150864
   PUBMED   8995400
REFERENCE   6  (bases 1 to 2273)
  AUTHORS   Frade,J.M., Mellado,M., del Real,G., Gutierrez-Ramos,J.C., Lind,P.
            and Martinez-A,C.
  TITLE     Characterization of the CCR2 chemokine receptor: functional CCR2
            receptor expression in B cells
  JOURNAL   J. Immunol. 159 (11), 5576-5584 (1997)
  MEDLINE   98208279
   PUBMED   9548499
REFERENCE   7  (bases 1 to 2273)
  AUTHORS   Mellado,M., Rodriguez-Frade,J.M., Aragay,A., del Real,G.,
            Martin,A.M., Vila-Coro,A.J., Serrano,A., Mayor,F. Jr. and
            Martinez-A,C.
  TITLE     The chemokine monocyte chemotactic protein 1 triggers Janus kinase
            2 activation and tyrosine phosphorylation of the CCR2B receptor
  JOURNAL   J. Immunol. 161 (2), 805-813 (1998)
  MEDLINE   98334032
   PUBMED   9670957
REFERENCE   8  (bases 1 to 2273)
  AUTHORS   McManus,C.M., Weidenheim,K., Woodman,S.E., Nunez,J.,
            Hesselgesser,J., Nath,A. and Berman,J.W.
  TITLE     Chemokine and chemokine-receptor expression in human glial
            elements: induction by the HIV protein, Tat, and chemokine
            autoregulation
  JOURNAL   Am. J. Pathol. 156 (4), 1441-1453 (2000)
  MEDLINE   20216651
   PUBMED   10751368
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U03882.1.
            On Sep 6, 2001 this sequence version replaced gi:4827072.
            Summary: This gene encodes two isoforms of a receptor for monocyte
            chemoattractant protein-1, a chemokine which specifically mediates
            monocyte chemotaxis. Monocyte chemoattractant protein-1 is involved
            in monocyte infiltration in inflammatory diseases such as
            rheumatoid arthritis as well as in the inflammatory response
            against tumors. The receptors encoded by this gene mediate
            agonist-dependent calcium mobilization and inhibition of adenylyl
            cyclase. This gene is located in the chemokine receptor gene
            cluster region. Two alternatively spliced transcript variants are
            expressed by the gene.
            Transcript Variant: This variant (A) encodes the cytoplasmic
            isoform. It is alternatively spliced in the coding region resulting
            in a frameshift and use of a downstream stop codon, compared to
            variant B. Isoform A has distinct C-terminus and is 14 amino acids
            longer than isoform B.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2273
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21"
     gene            1..2273
                     /gene="CCR2"
                     /note="CC-CKR-2; CMKBR2; CCR2A; CCR2B; CKR2A; CKR2B;
                     MCP-1-R"
                     /db_xref="LocusID:1231"
                     /db_xref="MIM:601267"
     CDS             81..1205
                     /gene="CCR2"
                     /note="isoform A is encoded by transcript variant A;
                     chemokine (C-C) receptor 2; monocyte chemoattractant
                     protein 1 receptor; monocyte chemotactic protein 1
                     receptor"
                     /codon_start=1
                     /product="chemokine (C-C motif) receptor 2, isoform A"
                     /protein_id="NP_000638.1"
                     /db_xref="GI:4502633"
                     /db_xref="LocusID:1231"
                     /db_xref="MIM:601267"
                     /translation="MLSTSRSRFIRNTNESGEEVTTFFDYDYGAPCHKFDVKQIGAQL
                     LPPLYSLVFIFGFVGNMLVVLILINCKKLKCLTDIYLLNLAISDLLFLITLPLWAHSA
                     ANEWVFGNAMCKLFTGLYHIGYFGGIFFIILLTIDRYLAIVHAVFALKARTVTFGVVT
                     SVITWLVAVFASVPGIIFTKCQKEDSVYVCGPYFPRGWNNFHTIMRNILGLVLPLLIM
                     VICYSGILKTLLRCRNEKKRHRAVRVIFTIMIVYFLFWTPYNIVILLNTFQEFFGLSN
                     CESTSQLDQATQVTETLGMTHCCINPIIYAFVGEKFRSLFHIALGCRIAPLQKPVCGG
                     PGVRPGKNVKVTTQGLLDGRGKGKSIGRAPEASLQDKEGA"
     misc_feature    309..995
                     /gene="CCR2"
                     /note="7tm_1; Region: 7 transmembrane receptor (rhodopsin
                     family)"
                     /db_xref="CDD:pfam00001"
     variation       270
                     /gene="CCR2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1799864"
     variation       860
                     /gene="CCR2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1799865"
     variation       1477
                     /gene="CCR2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1042100"
     variation       1872
                     /gene="CCR2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:743660"
     polyA_signal    2241..2246
                     /gene="CCR2"
     polyA_site      2273
                     /gene="CCR2"
BASE COUNT      618 a    474 c    519 g    662 t
ORIGIN      
        1 caggactgcc tgagacaagc cacaagctga acagagaaag tggattgaac aaggacgcat
       61 ttccccagta catccacaac atgctgtcca catctcgttc tcggtttatc agaaatacca
      121 acgagagcgg tgaagaagtc accacctttt ttgattatga ttacggtgct ccctgtcata
      181 aatttgacgt gaagcaaatt ggggcccaac tcctgcctcc gctctactcg ctggtgttca
      241 tctttggttt tgtgggcaac atgctggtcg tcctcatctt aataaactgc aaaaagctga
      301 agtgcttgac tgacatttac ctgctcaacc tggccatctc tgatctgctt tttcttatta
      361 ctctcccatt gtgggctcac tctgctgcaa atgagtgggt ctttgggaat gcaatgtgca
      421 aattattcac agggctgtat cacatcggtt attttggcgg aatcttcttc atcatcctcc
      481 tgacaatcga tagatacctg gctattgtcc atgctgtgtt tgctttaaaa gccaggacgg
      541 tcacctttgg ggtggtgaca agtgtgatca cctggttggt ggctgtgttt gcttctgtcc
      601 caggaatcat ctttactaaa tgccagaaag aagattctgt ttatgtctgt ggcccttatt
      661 ttccacgagg atggaataat ttccacacaa taatgaggaa cattttgggg ctggtcctgc
      721 cgctgctcat catggtcatc tgctactcgg gaatcctgaa aaccctgctt cggtgtcgaa
      781 acgagaagaa gaggcatagg gcagtgagag tcatcttcac catcatgatt gtttactttc
      841 tcttctggac tccctataac attgtcattc tcctgaacac cttccaggaa ttcttcggcc
      901 tgagtaactg tgaaagcacc agtcaactgg accaagccac gcaggtgaca gagactcttg
      961 ggatgactca ctgctgcatc aatcccatca tctatgcctt cgttggggag aagttcagaa
     1021 gcctttttca catagctctt ggctgtagga ttgccccact ccaaaaacca gtgtgtggag
     1081 gtccaggagt gagaccagga aagaatgtga aagtgactac acaaggactc ctcgatggtc
     1141 gtggaaaagg aaagtcaatt ggcagagccc ctgaagccag tcttcaggac aaagaaggag
     1201 cctagagaca gaaatgacag atctctgctt tggaaatcac acgtctggct tcacagatgt
     1261 gtgattcaca gtgtgaatct tggtgtctac gttaccaggc aggaaggctg agaggagaga
     1321 gactccagct gggttggaaa acagtatttt ccaaactacc ttccagttcc tcatttttga
     1381 atacaggcat agagttcaga ctttttttaa atagtaaaaa taaaattaaa gctgaaaact
     1441 gcaacttgta aatgtggtaa agagttagtt tgagttgcta tcatgtcaaa cgtgaaaatg
     1501 ctgtattagt cacagagata attctagctt tgagcttaag aattttgagc aggtggtatg
     1561 tttgggagac tgctgagtca acccaatagt tgttgattgg caggagttgg aagtgtgtga
     1621 tctgtgggca cattagccta tgtgcatgca gcatctaagt aatgatgtcg tttgaatcac
     1681 agtatacgct ccatcgctgt catctcagct ggatctccat tctctcaggc ttgctgccaa
     1741 aagccttttg tgttttgttt tgtatcatta tgaagtcatg cgtttaatca cattcgagtg
     1801 tttcagtgct tcgcagatgt ccttgatgct catattgttc cctaatttgc cagtgggaac
     1861 tcctaaatca aattggcttc taatcaaagc ttttaaaccc tattggtaaa gaatggaagg
     1921 tggagaagct ccctgaagta agcaaagact ttcctcttag tcgagccaag ttaagaatgt
     1981 tcttatgttg cccagtgtgt ttctgatctg atgcaagcaa gaaacactgg gcttctagaa
     2041 ccaggcaact tgggaactag actcccaagc tggactatgg ctctactttc aggccacatg
     2101 gctaaagaag gtttcagaaa gaagtgggga cagagcagaa ctttcacctt catatatttg
     2161 tatgatccta atgaatgcat aaaatgttaa gttgatggtg atgaaatgta aatactgttt
     2221 ttaacaacta tgatttggaa aataaatcaa tgctataact atgttgataa aag
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

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   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene  for        
 
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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_014210. Homo sapiens ecot...[gi:7657074] Links  


LOCUS       EVI2A                   1563 bp    mRNA    linear   PRI 25-JUL-2002
DEFINITION  Homo sapiens ecotropic viral integration site 2A (EVI2A), mRNA.
ACCESSION   NM_014210
VERSION     NM_014210.1  GI:7657074
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1563)
  AUTHORS   Wallace,M.R., Marchuk,D.A., Andersen,L.B., Letcher,R., Odeh,H.M.,
            Saulino,A.M., Fountain,J.W., Brereton,A., Nicholson,J.,
            Mitchell,A.L. et al.
  TITLE     Type 1 neurofibromatosis gene: identification of a large transcript
            disrupted in three NF1 patients
  JOURNAL   Science 249 (4965), 181-186 (1990)
  MEDLINE   90319792
   PUBMED   2134734
REFERENCE   2  (bases 1 to 1563)
  AUTHORS   O'Connell,P., Viskochil,D., Buchberg,A.M., Fountain,J.,
            Cawthon,R.M., Culver,M., Stevens,J., Rich,D.C., Ledbetter,D.H.,
            Wallace,M. et al.
  TITLE     The human homolog of murine Evi-2 lies between two von
            Recklinghausen neurofibromatosis translocations
  JOURNAL   Genomics 7 (4), 547-554 (1990)
  MEDLINE   90353952
   PUBMED   2117565
REFERENCE   3  (bases 1 to 1563)
  AUTHORS   Cawthon,R.M., O'Connell,P., Buchberg,A.M., Viskochil,D.,
            Weiss,R.B., Culver,M., Stevens,J., Jenkins,N.A., Copeland,N.G. and
            White,R.
  TITLE     Identification and characterization of transcripts from the
            neurofibromatosis 1 region: the sequence and genomic structure of
            EVI2 and mapping of other transcripts
  JOURNAL   Genomics 7 (4), 555-565 (1990)
  MEDLINE   90353953
   PUBMED   2117566
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from M55267.1.
FEATURES             Location/Qualifiers
     source          1..1563
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
                     /cell_type="lymphoblast"
     gene            1..1563
                     /gene="EVI2A"
                     /note="EVDA; EVI2"
                     /db_xref="LocusID:2123"
                     /db_xref="MIM:158380"
     variation       207
                     /gene="EVI2A"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3187442"
     variation       207
                     /gene="EVI2A"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1129506"
     CDS             220..918
                     /gene="EVI2A"
                     /codon_start=1
                     /product="ecotropic viral integration site 2A"
                     /protein_id="NP_055025.1"
                     /db_xref="GI:7657075"
                     /db_xref="LocusID:2123"
                     /db_xref="MIM:158380"
                     /translation="MEHTGHYLHLAFLMTTVFSLSPGTKANYTRLWANSTSSWDSVIQ
                     NKTGRNQNENINTNPITPEVDYKGNSTNMPETSHIVALTSKSEQELYIPSVVSNSPST
                     VQSIENTSKSHGEIFKKDVCAENNNNMAMLICLIIIAVLFLICTFLFLSTVVLANKVS
                     SLRRSKQVGKRQPRSNGDFLASGLWPAESDTWKRTKQLTGPNLVMQSTGVLTATRERK
                     DEEGTEKLTNKQIG"
     sig_peptide     <220..297
                     /gene="EVI2A"
                     /note="G00-125-191"
     mat_peptide     298..>915
                     /gene="EVI2A"
                     /product="ecotropic viral integration site 2A"
                     /note="G00-125-191"
     variation       complement(985)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:2070732"
     variation       complement(1387)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:7505"
BASE COUNT      554 a    271 c    282 g    456 t
ORIGIN      
        1 agttgcagtg gaaagaaatg tgtcatctgt ggtttggttt ttaaaagtgg aaaactagct
       61 gcacatatcc ttttttactg cagatttact ttaaggctca tattctccaa gtctattctg
      121 ctttaaaaag aagacaagaa aagaagtggt ttatcaaaat cacgttataa tcagattttg
      181 accaagcatt ttgtaagatt gccaagtatg cccacggaca tggaacacac aggacattac
      241 ctacatcttg cctttctgat gacaacagtt ttttctttgt ctcctggaac aaaagcaaac
      301 tatacccgtc tgtgggctaa cagtacttct tcctgggatt cagttattca aaacaagaca
      361 ggcagaaacc aaaatgaaaa cattaacaca aaccctataa ctcctgaagt agattataaa
      421 ggtaattcta caaacatgcc tgaaacatct cacatcgtag ctttaacttc taaatctgaa
      481 caggagcttt atataccttc tgtcgtcagc aacagtcctt caacagtaca gagcattgaa
      541 aacacaagca aaagtcatgg tgaaattttc aaaaaggatg tctgtgcgga aaacaacaac
      601 aacatggcta tgctaatttg cttaattata attgcagtgc tttttcttat ctgtaccttt
      661 ctatttctat caactgtggt tttggcaaac aaagtctctt ctctcagacg atcaaaacaa
      721 gtaggcaagc gtcagcctag aagcaatggc gattttctgg caagcggtct atggcccgct
      781 gaatcagaca cttggaaaag aacaaaacag ctcacaggac ccaacctagt gatgcaatct
      841 actggagtgc tcacagctac aagggaaaga aaagatgaag aaggaactga aaaacttact
      901 aacaaacaga taggttagtg aagaaaaatg caaagtagca atgagaaggc ttatggagta
      961 aaaatgaagt cagttggtat ttaatcccaa agtgttgttc tgattatcta aaatttgaca
     1021 tggtagacct tgcaatttag aatcaagcag gtgagacagg gagaagtatg cctgcttaat
     1081 tatttaaact gtgtactttt gttttgacac tgaatatttt aaaaagcaaa taataaaata
     1141 actaagcatt tgaggaaaat tttaaggata aattgaggaa actgattaat agagatagca
     1201 agggataatt aaataaatat tccctatgta gcaacagtgg ttagatgatc tttgtctgaa
     1261 tgtaataaaa ctttgaatag ttttagtgtg tccttaaagc caagtatatg ctttaacatc
     1321 aaatggaagt caaattccta atgcatagat agagagagct aaactgtgta atttaatggt
     1381 atcttccttg ctggatgtgg cagaatccac accagcttat caaccaacac agctaatttt
     1441 agaataggtc ctttatcttt ccatatggca cacgtaagaa agtgtttttc tactattaat
     1501 attaaattaa aacctttact tttgtataat aaattaaaac tcagaataaa cctgtgacca
     1561 cgt
//



Revised: July 5, 2002.
 
 


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1: NM_000591. Homo sapiens CD14...[gi:4557416] Links  


LOCUS       CD14                    1367 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens CD14 antigen (CD14), mRNA.
ACCESSION   NM_000591
VERSION     NM_000591.1  GI:4557416
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1367)
  AUTHORS   Ferrero,E. and Goyert,S.M.
  TITLE     Nucleotide sequence of the gene encoding the monocyte
            differentiation antigen, CD14
  JOURNAL   Nucleic Acids Res. 16 (9), 4173 (1988)
  MEDLINE   88234022
   PUBMED   2453848
REFERENCE   2  (bases 1 to 1367)
  AUTHORS   Simmons,D.L., Tan,S., Tenen,D.G., Nicholson-Weller,A. and Seed,B.
  TITLE     Monocyte antigen CD14 is a phospholipid anchored membrane protein
  JOURNAL   Blood 73 (1), 284-289 (1989)
  MEDLINE   89088540
   PUBMED   2462937
REFERENCE   3  (bases 1 to 1367)
  AUTHORS   Setoguchi,M., Nasu,N., Yoshida,S., Higuchi,Y., Akizuki,S. and
            Yamamoto,S.
  TITLE     Mouse and human CD14 (myeloid cell-specific leucine-rich
            glycoprotein) primary structure deduced from cDNA clones
  JOURNAL   Biochim. Biophys. Acta 1008 (2), 213-222 (1989)
  MEDLINE   89287330
   PUBMED   2472171
REFERENCE   4  (bases 1 to 1367)
  AUTHORS   Gupta,D., Kirkland,T.N., Viriyakosol,S. and Dziarski,R.
  TITLE     CD14 is a cell-activating receptor for bacterial peptidoglycan
  JOURNAL   J. Biol. Chem. 271 (38), 23310-23316 (1996)
  MEDLINE   96394425
   PUBMED   8798531
REFERENCE   5  (bases 1 to 1367)
  AUTHORS   Devitt,A., Moffatt,O.D., Raykundalia,C., Capra,J.D., Simmons,D.L.
            and Gregory,C.D.
  TITLE     Human CD14 mediates recognition and phagocytosis of apoptotic cells
  JOURNAL   Nature 392 (6675), 505-509 (1998)
  MEDLINE   98208033
   PUBMED   9548256
REFERENCE   6  (bases 1 to 1367)
  AUTHORS   Mahlknecht,U., Bucala,R., Hoelzer,D. and Verdin,E.
  TITLE     High resolution physical mapping of human HDAC3, a potential tumor
            suppressor gene in the 5q31 region
  JOURNAL   Cytogenet. Cell Genet. 86 (3-4), 237-239 (1999)
  MEDLINE   20044614
   PUBMED   10575214
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X13334.1.
            Summary: CD14 is a surface protein preferentially expressed on
            monocytes/macrophages.  It binds lipopolysaccharide binding protein
            and recently has been shown to bind apoptotic cells.
FEATURES             Location/Qualifiers
     source          1..1367
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     gene            1..1367
                     /gene="CD14"
                     /db_xref="LocusID:929"
                     /db_xref="MIM:158120"
     CDS             120..1247
                     /gene="CD14"
                     /codon_start=1
                     /product="CD14 antigen precursor"
                     /protein_id="NP_000582.1"
                     /db_xref="GI:4557417"
                     /db_xref="LocusID:929"
                     /db_xref="MIM:158120"
                     /translation="MERASCLLLLLLPLVHVSATTPEPCELDDEDFRCVCNFSEPQPD
                     WSEAFQCVSAVEVEIHAGGLNLEPFLKRVDADADPRQYADTVKALRVRRLTVGAAQVP
                     AQLLVGALRVLAYSRLKELTLEDLKITGTMPPLPLEATGLALSSLRLRNVSWATGRSW
                     LAELQQWLKPGLKVLSIAQAHSPAFSCEQVRAFPALTSLDLSDNPGLGERGLMAALCP
                     HKFPAIQNLALRNTGMETPTGVCAALAAAGVQPHSLDLSHNSLRATVNPSAPRCMWSS
                     ALNSLNLSFAGLEQVPKGLPAKLRVLDLSCNRLNRAPQPDELPEVDNLTLDGNPFLVP
                     GTALPHEGSMNSGVVPACARSTLSVGVSGTLVLLQGARGFA"
     sig_peptide     120..176
                     /gene="CD14"
     mat_peptide     177..1244
                     /gene="CD14"
                     /product="CD14 antigen, mature peptide"
     variation       729
                     /gene="CD14"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2228049"
     variation       980
                     /gene="CD14"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:13763"
     variation       complement(1220)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:4914"
BASE COUNT      269 a    441 c    392 g    265 t
ORIGIN      
        1 ccggccggcc gaagagttca caagtgtgaa gcctgaagcc gccgggtgcc gctgtgtaga
       61 aagaagctaa agcacttcca gagcctgctg agctcagagg ttcggaagac ttatcgacca
      121 tggagcgcgc gtcctgcttg ttgctgctgc tgctgccgct ggtgcacgtc tctgcgacca
      181 cgccagaacc ttgtgagctg gacgatgaag atttccgctg cgtctgcaac ttctccgaac
      241 ctcagcccga ctggtccgaa gccttccagt gtgtgtctgc agtagaggtg gagatccatg
      301 ccggcggtct caacctagag ccgtttctaa agcgcgtcga tgcggacgcc gacccgcggc
      361 agtatgctga cacggtcaag gctctccgcg tgcggcggct cacagtggga gccgcacagg
      421 ttcctgctca gctactggta ggcgccctgc gtgtgctagc gtactcccgc ctcaaggaac
      481 tgacgctcga ggacctaaag ataaccggca ccatgcctcc gctgcctctg gaagccacag
      541 gacttgcact ttccagcttg cgcctacgca acgtgtcgtg ggcgacaggg cgttcttggc
      601 tcgccgagct gcagcagtgg ctcaagccag gcctcaaggt actgagcatt gcccaagcac
      661 actcgcctgc cttttcctgc gaacaggttc gcgccttccc ggcccttacc agcctagacc
      721 tgtctgacaa tcctggactg ggcgaacgcg gactgatggc ggctctctgt ccccacaagt
      781 tcccggccat ccagaatcta gcgctgcgca acacaggaat ggagacgccc acaggcgtgt
      841 gcgccgcact ggcggcggca ggtgtgcagc cccacagcct agacctcagc cacaactcgc
      901 tgcgcgccac cgtaaaccct agcgctccga gatgcatgtg gtccagcgcc ctgaactccc
      961 tcaatctgtc gttcgctggg ctggaacagg tgcctaaagg actgccagcc aagctcagag
     1021 tgctcgatct cagctgcaac agactgaaca gggcgccgca gcctgacgag ctgcccgagg
     1081 tggataacct gacactggac gggaatccct tcctggtccc tggaactgcc ctcccccacg
     1141 agggctcaat gaactccggc gtggtcccag cctgtgcacg ttcgaccctg tcggtggggg
     1201 tgtcgggaac cctggtgctg ctccaagggg cccggggctt tgcctaagat ccaagacaga
     1261 ataatgaatg gactcaaact gccttggctt caggggagtc ccgtcaggac gttgaggact
     1321 tttcgaccaa ttcaaccctt tgccccacct ttattaaaat cttaaac
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_000418. Homo sapiens inte...[gi:4557668] Links  


LOCUS       IL4R                    3597 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens interleukin 4 receptor (IL4R), mRNA.
ACCESSION   NM_000418
VERSION     NM_000418.1  GI:4557668
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3597)
  AUTHORS   Idzerda,R.L., March,C.J., Mosley,B., Lyman,S.D., Bos,T.V.,
            Gimpel,S.D., Din,W.S., Grabstein,K.H., Widmer,M.B., Park,L.S.,
            Cosman,D. and Beckmann,M.P.
  TITLE     Human interleukin 4 receptor confers biological responsiveness and
            defines a novel receptor superfamily
  JOURNAL   J. Exp. Med. 171 (3), 861-873 (1990)
  MEDLINE   90171849
   PUBMED   2307934
REFERENCE   2  (bases 1 to 3597)
  AUTHORS   Pritchard MA, Baker E, Whitmore SA, Sutherland GR, Idzerda RL, Park
            LS, Cosman D, Jenkins NA, Gilbert DJ, Copeland NG et al.
  TITLE     The interleukin-4 receptor gene (IL4R) maps to 16p11.2-16p12.1 in
            human and to the distal region of mouse chromosome 7
  JOURNAL   Genomics 10 (3), 801-806 (1991)
  MEDLINE   91365391
   PUBMED   1679753
REFERENCE   3  (bases 1 to 3597)
  AUTHORS   Loftus BJ, Kim UJ, Sneddon VP, Kalush F, Brandon R, Fuhrmann J,
            Mason T, Crosby ML, Barnstead M, Cronin L, Deslattes Mays A, Cao Y,
            Xu RX, Kang HL, Mitchell S, Eichler EE, Harris PC, Venter JC and
            Adams MD.
  TITLE     Genome duplications and other features in 12 Mb of DNA sequence
            from human chromosome 16p and 16q
  JOURNAL   Genomics 60 (3), 295-308 (1999)
  MEDLINE   99425270
   PUBMED   10493829
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X52425.1.
            Summary:  IL4R when complexed with the common gamma chain (IL2RG)
            serves as the high-affinity interleukin 4 (IL4) receptor.
            COMPLETENESS: incomplete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3597
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2-12.1"
                     /cell_type="T cell, tissue=peripheral blood, clone=T22-8"
     gene            1..3597
                     /gene="IL4R"
                     /note="CD124; IL4RA"
                     /db_xref="LocusID:3566"
                     /db_xref="MIM:147781"
     CDS             176..2653
                     /gene="IL4R"
                     /codon_start=1
                     /product="interleukin 4 receptor precursor"
                     /protein_id="NP_000409.1"
                     /db_xref="GI:4557669"
                     /db_xref="LocusID:3566"
                     /db_xref="MIM:147781"
                     /translation="MGWLCSGLLFPVSCLVLLQVASSGNMKVLQEPTCVSDYMSISTC
                     EWKMNGPTNCSTELRLLYQLVFLLSEAHTCIPENNGGAGCVCHLLMDDVVSADNYTLD
                     LWAGQQLLWKGSFKPSEHVKPRAPGNLTVHTNVSDTLLLTWSNPYPPDNYLYNHLTYA
                     VNIWSENDPADFRIYNVTYLEPSLRIAASTLKSGISYRARVRAWAQCYNTTWSEWSPS
                     TKWHNSYREPFEQHLLLGVSVSCIVILAVCLLCYVSITKIKKEWWDQIPNPARSRLVA
                     IIIQDAQGSQWEKRSRGQEPAKCPHWKNCLTKLLPCFLEHNMKRDEDPHKAAKEMPFQ
                     GSGKSAWCPVEISKTVLWPESISVVRCVELFEAPVECEEEEEVEEEKGSFCASPESSR
                     DDFQEGREGIVARLTESLFLDLLGEENGGFCQQDMGESCLLPPSGSTSAHMPWDEFPS
                     AGPKEAPPWGKEQPLHLEPSPPASPTQSPDNLTCTETPLVIAGNPAYRSFSNSLSQSP
                     CPRELGPDPLLARHLEEVEPEMPCVPQLSEPTTVPQPEPETWEQILRRNVLQHGAAAA
                     PVSAPTSGYQEFVHAVEQGGTQASAVVGLGPPGEAGYKAFSSLLASSAVSPEKCGFGA
                     SSGEEGYKPFQDLIPGCPGDPAPVPVPLFTFGLDREPPRSPQSSHLPSSSPEHLGLEP
                     GEKVEDMPKPPLPQEQATDPLVDSLGSGIVYSALTCHLCGHLKQCHGQEDGGQTPVMA
                     SPCCGCCCGDRSSPPTTPLRAPDPSPGGVPLEASLCPASLAPSGISEKSKSSSSFHPA
                     PGNAQSSSQTPKIVNFVSVGPTYMRVS"
     sig_peptide     176..250
                     /gene="IL4R"
     mat_peptide     251..2650
                     /gene="IL4R"
                     /product="interleukin 4 receptor"
     misc_feature    542..814
                     /gene="IL4R"
                     /note="fn3; Region: Fibronectin type III domain"
                     /db_xref="CDD:pfam00041"
     variation       676
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2234895"
     variation       1374
                     /gene="IL4R"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1805011"
     variation       1417
                     /gene="IL4R"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:2234898"
     variation       1466
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1805012"
     variation       1468
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2234899"
     variation       1471
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2234923"
     variation       1474
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2234900"
     variation       1482
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1805013"
     variation       1682
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1805015"
     variation       1902
                     /gene="IL4R"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1801275"
     variation       1910
                     /gene="IL4R"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3024677"
     variation       2198
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3024678"
     variation       2429
                     /gene="IL4R"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1805016"
     variation       2572
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3024679"
     variation       complement(2659)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2074570"
     variation       2661
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3024680"
     variation       2702
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3024681"
     variation       2741
                     /gene="IL4R"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2234924"
     variation       2925
                     /gene="IL4R"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3024682"
     variation       2935
                     /gene="IL4R"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3024683"
     variation       3044
                     /gene="IL4R"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1049631"
     variation       3289
                     /gene="IL4R"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:8832"
     variation       complement(3289)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3760093"
     variation       3391
                     /gene="IL4R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:8674"
     polyA_signal    3579..3584
                     /gene="IL4R"
BASE COUNT      794 a   1034 c   1039 g    730 t
ORIGIN      
        1 ggcgaatgga gcaggggcgc gcagataatt aaagatttac acacagctgg aagaaatcat
       61 agagaagccg ggcgtggtgg ctcatgccta taatcccagc acttttggag gctgaggcgg
      121 gcagatcact tgagatcagg agttcgagac cagcctggtg ccttggcatc tcccaatggg
      181 gtggctttgc tctgggctcc tgttccctgt gagctgcctg gtcctgctgc aggtggcaag
      241 ctctgggaac atgaaggtct tgcaggagcc cacctgcgtc tccgactaca tgagcatctc
      301 tacttgcgag tggaagatga atggtcccac caattgcagc accgagctcc gcctgttgta
      361 ccagctggtt tttctgctct ccgaagccca cacgtgtatc cctgagaaca acggaggcgc
      421 ggggtgcgtg tgccacctgc tcatggatga cgtggtcagt gcggataact atacactgga
      481 cctgtgggct gggcagcagc tgctgtggaa gggctccttc aagcccagcg agcatgtgaa
      541 acccagggcc ccaggaaacc tgacagttca caccaatgtc tccgacactc tgctgctgac
      601 ctggagcaac ccgtatcccc ctgacaatta cctgtataat catctcacct atgcagtcaa
      661 catttggagt gaaaacgacc cggcagattt cagaatctat aacgtgacct acctagaacc
      721 ctccctccgc atcgcagcca gcaccctgaa gtctgggatt tcctacaggg cacgggtgag
      781 ggcctgggct cagtgctata acaccacctg gagtgagtgg agccccagca ccaagtggca
      841 caactcctac agggagccct tcgagcagca cctcctgctg ggcgtcagcg tttcctgcat
      901 tgtcatcctg gccgtctgcc tgttgtgcta tgtcagcatc accaagatta agaaagaatg
      961 gtgggatcag attcccaacc cagcccgcag ccgcctcgtg gctataataa tccaggatgc
     1021 tcaggggtca cagtgggaga agcggtcccg aggccaggaa ccagccaagt gcccacactg
     1081 gaagaattgt cttaccaagc tcttgccctg ttttctggag cacaacatga aaagggatga
     1141 agatcctcac aaggctgcca aagagatgcc tttccagggc tctggaaaat cagcatggtg
     1201 cccagtggag atcagcaaga cagtcctctg gccagagagc atcagcgtgg tgcgatgtgt
     1261 ggagttgttt gaggccccgg tggagtgtga ggaggaggag gaggtagagg aagaaaaagg
     1321 gagcttctgt gcatcgcctg agagcagcag ggatgacttc caggagggaa gggagggcat
     1381 tgtggcccgg ctaacagaga gcctgttcct ggacctgctc ggagaggaga atgggggctt
     1441 ttgccagcag gacatggggg agtcatgcct tcttccacct tcgggaagta cgagtgctca
     1501 catgccctgg gatgagttcc caagtgcagg gcccaaggag gcacctccct ggggcaagga
     1561 gcagcctctc cacctggagc caagtcctcc tgccagcccg acccagagtc cagacaacct
     1621 gacttgcaca gagacgcccc tcgtcatcgc aggcaaccct gcttaccgca gcttcagcaa
     1681 ctccctgagc cagtcaccgt gtcccagaga gctgggtcca gacccactgc tggccagaca
     1741 cctggaggaa gtagaacccg agatgccctg tgtcccccag ctctctgagc caaccactgt
     1801 gccccaacct gagccagaaa cctgggagca gatcctccgc cgaaatgtcc tccagcatgg
     1861 ggcagctgca gcccccgtct cggcccccac cagtggctat caggagtttg tacatgcggt
     1921 ggagcagggt ggcacccagg ccagtgcggt ggtgggcttg ggtcccccag gagaggctgg
     1981 ttacaaggcc ttctcaagcc tgcttgccag cagtgctgtg tccccagaga aatgtgggtt
     2041 tggggctagc agtggggaag aggggtataa gcctttccaa gacctcattc ctggctgccc
     2101 tggggaccct gccccagtcc ctgtcccctt gttcaccttt ggactggaca gggagccacc
     2161 tcgcagtccg cagagctcac atctcccaag cagctcccca gagcacctgg gtctggagcc
     2221 gggggaaaag gtagaggaca tgccaaagcc cccacttccc caggagcagg ccacagaccc
     2281 ccttgtggac agcctgggca gtggcattgt ctactcagcc cttacctgcc acctgtgcgg
     2341 ccacctgaaa cagtgtcatg gccaggagga tggtggccag acccctgtca tggccagtcc
     2401 ttgctgtggc tgctgctgtg gagacaggtc ctcgccccct acaacccccc tgagggcccc
     2461 agacccctct ccaggtgggg ttccactgga ggccagtctg tgtccggcct ccctggcacc
     2521 ctcgggcatc tcagagaaga gtaaatcctc atcatccttc catcctgccc ctggcaatgc
     2581 tcagagctca agccagaccc ccaaaatcgt gaactttgtc tccgtgggac ccacatacat
     2641 gagggtctct taggtgcatg tcctcttgtt gctgagtctg cagatgagga ctagggctta
     2701 tccatgcctg ggaaatgcca cctcctggaa ggcagccagg ctggcagatt tccaaaagac
     2761 ttgaagaacc atggtatgaa ggtgattggc cccactgacg ttggcctaac actgggctgc
     2821 agagactgga ccccgcccag cattgggctg ggctcgccac atcccatgag agtagagggc
     2881 actgggtcgc cgtgccccac ggcaggcccc tgcaggaaaa ctgaggccct tgggcacctc
     2941 gacttgtgaa cgagttgttg gctgctccct ccacagcttc tgcagcagac tgtccctgtt
     3001 gtaactgccc aaggcatgtt ttgcccacca gatcatggcc cacgtggagg cccacctgcc
     3061 tctgtctcac tgaactagaa gccgagccta gaaactaaca cagccatcaa gggaatgact
     3121 tgggcggcct tgggaaatcg atgagaaatt gaacttcagg gagggtggtc attgcctaga
     3181 ggtgctcatt catttaacag agcttcctta ggttgatgct ggaggcagaa tcccggctgt
     3241 caaggggtgt tcagttaagg ggagcaacag aggacatgaa aaattgctat gactaaagca
     3301 gggacaattt gctgccaaac acccatgccc agctgtatgg ctgggggctc ctcgtatgca
     3361 tggaaccccc agaataaata tgctcagcca ccctgtgggc cgggcaatcc agacagcagg
     3421 cataaggcac cagttaccct gcatgttggc ccagacctca ggtgctaggg aaggcgggaa
     3481 ccttgggttg agtaatgctc gtctgtgtgt tttagtttca tcacctgtta tctgtgtttg
     3541 ctgaggagag tggaacagaa ggggtggagt tttgtataaa taaagtttct ttgtctc
//



Revised: July 5, 2002.
 
 


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1: NM_000211. Homo sapiens inte...[gi:4557885] Links  


LOCUS       ITGB2                   2776 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens integrin, beta 2 (antigen CD18 (p95), lymphocyte
            function-associated antigen 1; macrophage antigen 1 (mac-1) beta
            subunit) (ITGB2), mRNA.
ACCESSION   NM_000211
VERSION     NM_000211.1  GI:4557885
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2776)
  AUTHORS   Kishimoto,T.K., O'Connor,K., Lee,A., Roberts,T.M. and Springer,T.A.
  TITLE     Cloning of the beta subunit of the leukocyte adhesion proteins:
            homology to an extracellular matrix receptor defines a novel
            supergene family
  JOURNAL   Cell 48 (4), 681-690 (1987)
  MEDLINE   87131080
   PUBMED   3028646
REFERENCE   2  (bases 1 to 2776)
  AUTHORS   Law SK, Gagnon J, Hildreth JE, Wells CE, Willis AC and Wong AJ.
  TITLE     The primary structure of the beta-subunit of the cell surface
            adhesion glycoproteins LFA-1, CR3 and p150,95 and its relationship
            to the fibronectin receptor
  JOURNAL   EMBO J. 6 (4), 915-919 (1987)
  MEDLINE   87246525
   PUBMED   2954816
REFERENCE   3  (bases 1 to 2776)
  AUTHORS   Solomon,E., Palmer,R.W., Hing,S. and Law,S.K.
  TITLE     Regional localization of CD18, the beta-subunit of the cell surface
            adhesion molecule LFA-1, on human chromosome 21 by in situ
            hybridization
  JOURNAL   Ann. Hum. Genet. 52 (Pt 2), 123-128 (1988)
  MEDLINE   89245796
   PUBMED   3073708
REFERENCE   4  (bases 1 to 2776)
  AUTHORS   Weitzman JB, Wells CE, Wright AH, Clark PA and Law SK.
  TITLE     The gene organisation of the human beta 2 integrin subunit (CD18)
  JOURNAL   FEBS Lett. 294 (1-2), 97-103 (1991)
  MEDLINE   92077153
   PUBMED   1683838
REFERENCE   5  (bases 1 to 2776)
  AUTHORS   Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS,
            Toyoda A, Ishii K, Totoki Y, Choi DK, Soeda E, Ohki M, Takagi T,
            Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J,
            Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M
            and Schudy A.
  TITLE     The DNA sequence of human chromosome 21. The chromosome 21 mapping
            and sequencing consortium
  JOURNAL   Nature 405 (6784), 311-319 (2000)
  MEDLINE   20289799
   PUBMED   10830953
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M15395.1.
            Summary: The ITGB2 protein product is the integrin beta chain beta
            2. Integrins are integral cell-surface proteins composed of an
            alpha chain and a beta chain.  A given chain may combine with
            multiple partners resulting in different integrins.  For example,
            beta 2 combines with the alpha L chain to form the integrin LFA-1,
            and combines with the alpha M chain to form the integrin Mac-1.
            Integrins are known to participate in cell adhesion as well as
            cell-surface mediated signalling.
            COMPLETENESS: incomplete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2776
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..2776
                     /gene="ITGB2"
                     /note="CD18; LAD; LCAMB; LFA-1; MF17"
                     /db_xref="LocusID:3689"
                     /db_xref="MIM:600065"
     variation       50
                     /gene="ITGB2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1140646"
     CDS             73..2382
                     /gene="ITGB2"
                     /note="cell surface adhesion glycoprotein
                     (LFA-1/CR3/P150,959 beta subunit precursor); Integrin,
                     beta-2 (antigen CD18 (p95), lymphocyte
                     function-associated"
                     /codon_start=1
                     /product="integrin beta chain, beta 2 precursor"
                     /protein_id="NP_000202.1"
                     /db_xref="GI:4557886"
                     /db_xref="LocusID:3689"
                     /db_xref="MIM:600065"
                     /translation="MLGLRPPLLALVGLLSLGCVLSQECTKFKVSSCRECIESGPGCT
                     WCQKLNFTGPGDPDSIRCDTRPQLLMRGCAADDIMDPTSLAETQEDHNGGQKQLSPQK
                     VTLYLRPGQAAAFNVTFRRAKGYPIDLYYLMDLSYSMLDDLRNVKKLGGDLLRALNEI
                     TESGRIGFGSFVDKTVLPFVNTHPDKLRNPCPNKEKECQPPFAFRHVLKLTNNSNQFQ
                     TEVGKQLISGNLDAPEGGLDAMMQVAACPEEIGWRNVTRLLVFATDDGFHFAGDGKLG
                     AILTPNDGRCHLEDNLYKRSNEFDYPSVGQLAHKLAENNIQPIFAVTSRMVKTYEKLT
                     EIIPKSAVGELSEDSSNVVHLIKNAYNKLSSRVFLDHNALPDTLKVTYDSFCSNGVTH
                     RNQPRGDCDGVQINVPITFQVKVTATECIQEQSFVIRALGFTDIVTVQVLPQCECRCR
                     DQSRDRSLCHGKGFLECGICRCDTGYIGKNCECQTQGRSSQELEGSCRKDNNSIICSG
                     LGDCVCGQCLCHTSDVPGKLIYGQYCECDTINCERYNGQVCGGPGRGLCFCGKCRCHP
                     GFEGSACQCERTTEGCLNPRRVECSGRGRCRCNVCECHSGYQLPLCQECPGCPSPCGK
                     YISCAECLKFEKGPFGKNCSAACPGLQLSNNPVKGRTCKERDSEGCWVAYTLEQQDGM
                     DRYLIYVDESRECVAGPNIAAIVGGTVAGIVLIGILLLVIWKALIHLSDLREYRRFEK
                     EKLKSQWNNDNPLFKSATTTVMNPKFAES"
     sig_peptide     73..138
                     /gene="ITGB2"
     mat_peptide     139..2379
                     /gene="ITGB2"
                     /product="integrin beta chain, beta 2"
     misc_feature    166..1413
                     /gene="ITGB2"
                     /note="INB; Region: Integrin beta subunits (N-terminal
                     portion of extracellular region)"
                     /db_xref="CDD:INB"
     misc_feature    166..1413
                     /gene="ITGB2"
                     /note="integrin_B; Region: Integrins"
                     /db_xref="CDD:pfam00362"
     variation       891
                     /gene="ITGB2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2230528"
     variation       1173
                     /gene="ITGB2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:2230529"
     variation       1614
                     /gene="ITGB2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2230530"
     variation       1960
                     /gene="ITGB2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2230531"
     variation       2505
                     /gene="ITGB2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:684"
     variation       complement(2528)
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1160263"
     variation       2553
                     /gene="ITGB2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:6570"
     variation       2646
                     /gene="ITGB2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1063594"
BASE COUNT      610 a    817 c    834 g    515 t
ORIGIN      
        1 cagggcagac tggtagcaaa gcccccacgc ccagccagga gcaccgccgc ggactccagc
       61 acaccgaggg acatgctggg cctgcgcccc ccactgctcg ccctggtggg gctgctctcc
      121 ctcgggtgcg tcctctctca ggagtgcacg aagttcaagg tcagcagctg ccgggaatgc
      181 atcgagtcgg ggcccggctg cacctggtgc cagaagctga acttcacagg gccgggggat
      241 cctgactcca ttcgctgcga cacccggcca cagctgctca tgaggggctg tgcggctgac
      301 gacatcatgg accccacaag cctcgctgaa acccaggaag accacaatgg gggccagaag
      361 cagctgtccc cacaaaaagt gacgctttac ctgcgaccag gccaggcagc agcgttcaac
      421 gtgaccttcc ggcgggccaa gggctacccc atcgacctgt actatctgat ggacctctcc
      481 tactccatgc ttgatgacct caggaatgtc aagaagctag gtggcgacct gctccgggcc
      541 ctcaacgaga tcaccgagtc cggccgcatt ggcttcgggt ccttcgtgga caagaccgtg
      601 ctgccgttcg tgaacacgca ccctgataag ctgcgaaacc catgccccaa caaggagaaa
      661 gagtgccagc ccccgtttgc cttcaggcac gtgctgaagc tgaccaacaa ctccaaccag
      721 tttcagaccg aggtcgggaa gcagctgatt tccggaaacc tggatgcacc cgagggtggg
      781 ctggacgcca tgatgcaggt cgccgcctgc ccggaggaaa tcggctggcg caacgtcacg
      841 cggctgctgg tgtttgccac tgatgacggc ttccatttcg cgggcgacgg aaagctgggc
      901 gccatcctga cccccaacga cggccgctgt cacctggagg acaacttgta caagaggagc
      961 aacgaattcg actacccatc ggtgggccag ctggcgcaca agctggctga aaacaacatc
     1021 cagcccatct tcgcggtgac cagtaggatg gtgaagacct acgagaaact caccgagatc
     1081 atccccaagt cagccgtggg ggagctgtct gaggactcca gcaatgtggt ccatctcatt
     1141 aagaatgctt acaataaact ctcctccagg gtcttcctgg atcacaacgc cctccccgac
     1201 accctgaaag tcacctacga ctccttctgc agcaatggag tgacgcacag gaaccagccc
     1261 agaggtgact gtgatggcgt gcagatcaat gtcccgatca ccttccaggt gaaggtcacg
     1321 gccacagagt gcatccagga gcagtcgttt gtcatccggg cgctgggctt cacggacata
     1381 gtgaccgtgc aggttcttcc ccagtgtgag tgccggtgcc gggaccagag cagagaccgc
     1441 agcctctgcc atggcaaggg cttcttggag tgcggcatct gcaggtgtga cactggctac
     1501 attgggaaaa actgtgagtg ccagacacag ggccggagca gccaggagct ggaaggaagc
     1561 tgccggaagg acaacaactc catcatctgc tcagggctgg gggactgtgt ctgcgggcag
     1621 tgcctgtgcc acaccagcga cgtccccggc aagctgatat acgggcagta ctgcgagtgt
     1681 gacaccatca actgtgagcg ctacaacggc caggtctgcg gcggcccggg gagggggctc
     1741 tgcttctgcg ggaagtgccg ctgccacccg ggctttgagg gctcagcgtg ccagtgcgag
     1801 aggaccactg agggctgcct gaacccgcgg cgtgttgagt gtagtggtcg tggccggtgc
     1861 cgctgcaacg tatgcgagtg ccattcaggc taccagctgc ctctgtgcca ggagtgcccc
     1921 ggctgcccct caccctgtgg caagtacatc tcctgcgccg agtgcctgaa gttcgaaaag
     1981 ggcccctttg ggaagaactg cagcgcggcg tgtccgggcc tgcagctgtc gaacaacccc
     2041 gtgaagggca ggacctgcaa ggagagggac tcagagggct gctgggtggc ctacacgctg
     2101 gagcagcagg acgggatgga ccgctacctc atctatgtgg atgagagccg agagtgtgtg
     2161 gcaggcccca acatcgccgc catcgtcggg ggcaccgtgg caggcatcgt gctgatcggc
     2221 attctcctgc tggtcatctg gaaggctctg atccacctga gcgacctccg ggagtacagg
     2281 cgctttgaga aggagaagct caagtcccag tggaacaatg ataatcccct tttcaagagc
     2341 gccaccacga cggtcatgaa ccccaagttt gctgagagtt aggagcactt ggtgaagaca
     2401 aggccgtcag gacccaccat gtctgcccca tcacgcggcc gagacatggc ttggccacag
     2461 ctcttgagga tgtcaccaat taaccagaaa tccagttatt ttccgccctc aaaatgacag
     2521 ccatggccgg ccggtgcttc tgggggctcg tcggggggac agctccactc tgactggcac
     2581 agtctttgca tggagacttg aggagggctt gaggttggtg aggttaggtg cgtgtttcct
     2641 gtgcaagtca ggacatcagt ctgattaaag gtggtgccaa tttatttaca tttaaacttg
     2701 tcagggtata aaatgacatc ccattaatta tattgttaat caatcacgtg tatagaaaaa
     2761 aaaataaaac ttcaat
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_024318. Homo sapiens immu...[gi:13324689] Links  


LOCUS       ILT8                    1395 bp    mRNA    linear   PRI 14-MAR-2001
DEFINITION  Homo sapiens immunoglobulin-like transcript 8 (ILT8), mRNA.
ACCESSION   NM_024318
VERSION     NM_024318.1  GI:13324689
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1395)
  AUTHORS   Wende H, Volz A and Ziegler A.
  TITLE     Extensive gene duplications and a large inversion characterize the
            human leukocyte receptor cluster
  JOURNAL   Immunogenetics 51 (8-9), 703-713 (2000)
  MEDLINE   20395290
   PUBMED   10941842
REFERENCE   2  (bases 1 to 1395)
  AUTHORS   Colonna,M.
  TITLE     Immunoglobulin-like transcript 8
  JOURNAL   Unpublished
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF041262.1.
FEATURES             Location/Qualifiers
     source          1..1395
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.4"
                     /clone="3"
                     /cell_type="leukocyte"
     gene            1..1395
                     /gene="ILT8"
                     /db_xref="LocusID:79168"
     CDS             1..1395
                     /gene="ILT8"
                     /function="activating receptor"
                     /codon_start=1
                     /product="immunoglobulin-like transcript 8"
                     /protein_id="NP_077294.1"
                     /db_xref="GI:13324690"
                     /db_xref="LocusID:79168"
                     /translation="MTPILTVLICLGLSLGPRTHVQAGPFPKPTLWAEPGSVISWGSP
                     VTIWCQGSLEAQEYRLDKEGSPEPWDRNNPLEPKNKARFSIPSITEHHAGRYRCHYYS
                     SAGWSEPSDALELVMTGAYSKPTLSALPSPVVASGGNMTLQCGSQKGYHQFVLMKEGE
                     HQLPRTLDSQQLHSGGFQALFPVGPVNPSHRWRFTCYYYYMNTPRVWSHPSDPLEILP
                     SGVSRKPSLLTLQGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGL
                     SQANFTLGPVSPSHGGQYRCYGAHNLSSEWSAPSDPLNILMAGQIYDTVSLSAQPGPT
                     VASGENVTLLCQSWWQFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAG
                     TYRCYGSYSSNPHLLSFPSEPLELMVSASHAKDYTVENLIRMGMAGLVLVFLGILLFE
                     AQHSQRNPQDAARR"
     variation       176
                     /gene="ILT8"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:678876"
     variation       206
                     /gene="ILT8"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3193439"
     variation       268
                     /gene="ILT8"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1052963"
     variation       279
                     /gene="ILT8"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1052964"
     variation       358
                     /gene="ILT8"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3193445"
     variation       358
                     /gene="ILT8"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1132591"
     variation       359
                     /gene="ILT8"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1132593"
     variation       359
                     /gene="ILT8"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3193447"
     variation       363
                     /gene="ILT8"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3193448"
     variation       363
                     /gene="ILT8"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1132594"
     variation       365
                     /gene="ILT8"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3193449"
     variation       365
                     /gene="ILT8"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1132595"
     variation       complement(365)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3826750"
     variation       complement(428)
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3826749"
     variation       445
                     /gene="ILT8"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1052966"
     variation       560
                     /gene="ILT8"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1052968"
     variation       complement(560)
                     /note="WARNING: map location ambiguous"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3826748"
     variation       602
                     /gene="ILT8"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1052970"
     variation       603
                     /gene="ILT8"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1052971"
     variation       complement(613)
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3826747"
     variation       613
                     /gene="ILT8"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1052973"
     variation       614
                     /gene="ILT8"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1063805"
     variation       863
                     /gene="ILT8"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1052975"
     variation       complement(863)
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3745417"
     variation       868
                     /gene="ILT8"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3193459"
     variation       870
                     /gene="ILT8"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3193462"
     variation       complement(891)
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3745416"
     variation       891
                     /gene="ILT8"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:394983"
     variation       898
                     /gene="ILT8"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1045818"
     variation       930
                     /gene="ILT8"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1052980"
     variation       940
                     /gene="ILT8"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3193465"
     variation       940
                     /gene="ILT8"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1132597"
     variation       951
                     /gene="ILT8"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3193469"
     variation       951
                     /gene="ILT8"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1132599"
     variation       952
                     /gene="ILT8"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3193470"
     variation       952
                     /gene="ILT8"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1132600"
     variation       1021
                     /gene="ILT8"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1052983"
     variation       1042
                     /gene="ILT8"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1052984"
     variation       1045
                     /gene="ILT8"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1052985"
     variation       1048
                     /gene="ILT8"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1052987"
     variation       1050
                     /gene="ILT8"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1052992"
     variation       1198
                     /gene="ILT8"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1052993"
     variation       1199
                     /gene="ILT8"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1052995"
     variation       1213
                     /gene="ILT8"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1132604"
     variation       1213
                     /gene="ILT8"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3193480"
     variation       1225
                     /gene="ILT8"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3193482"
     variation       1226
                     /gene="ILT8"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3193485"
BASE COUNT      292 a    463 c    381 g    259 t
ORIGIN      
        1 atgaccccca tcctcacggt cctgatctgt ctcgggctga gtctgggccc caggacccac
       61 gtgcaggcag ggcccttccc caaacccacc ctctgggctg agccaggctc tgtgatcagc
      121 tgggggagcc ccgtgaccat ctggtgtcag gggagcctgg aggcccagga gtaccgactg
      181 gataaagagg gaagcccaga gccctgggac agaaataacc cactggaacc caagaacaag
      241 gccagattct ccatcccatc cataacagag caccatgcgg ggagataccg ctgccactat
      301 tacagctctg caggctggtc agagcccagc gacgccctgg agctggtgat gacaggagcc
      361 tatagcaaac ccaccctctc agccctgccc agccctgtgg tggcctcagg ggggaatatg
      421 accctccaat gtggctcaca gaagggatat caccaatttg ttctgatgaa ggaaggagaa
      481 caccagctcc cccggaccct ggactcacag cagctccaca gtggggggtt ccaggccctg
      541 ttccctgtgg gccccgtgaa ccccagccac aggtggaggt tcacatgcta ttactattat
      601 atgaacaccc cccgggtgtg gtcccacccc agtgaccccc tggagattct gccctcaggg
      661 gtgtctagga agccctccct cctgaccctg cagggccctg tcctggcccc tgggcagagc
      721 ctgaccctcc agtgtggctc tgatgtcggc tacgacagat ttgttctgta taaggagggg
      781 gaacgtgact tcctccagcg ccctggccag cagccccagg ctgggctctc ccaggccaac
      841 ttcaccctgg gccctgtgag cccctcccac gggggccagt acaggtgcta tggtgcacac
      901 aacctctcct ccgagtggtc ggcccccagc gaccccctga acatcctgat ggcaggacag
      961 atctatgaca ccgtctccct gtcagcacag ccgggcccca cagtggcctc aggagagaac
     1021 gtgaccctgc tgtgtcagtc atggtggcag tttgacactt tccttctgac caaagaaggg
     1081 gcagcccatc ccccgctgcg tctgagatca atgtacggag ctcataagta ccaggctgaa
     1141 ttccccatga gtcctgtgac ctcagcccac gcggggacct acaggtgcta cggctcatac
     1201 agctccaacc cccacctgct gtctttcccc agtgagcccc tggaactcat ggtctcagcc
     1261 tcacacgcca aggattacac agtggagaat ctcatccgca tgggcatggc aggcttggtc
     1321 ctggtgttcc tcgggattct gttatttgag gctcagcaca gccagagaaa cccccaagat
     1381 gcagcaagga ggtaa
//



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1: NM_001814. Homo sapiens cath...[gi:22538438] Links  


LOCUS       CTSC                    1904 bp    mRNA    linear   PRI 29-AUG-2002
DEFINITION  Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA.
ACCESSION   NM_001814
VERSION     NM_001814.2  GI:22538438
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1904)
  AUTHORS   Paris,A., Strukelj,B., Pungercar,J., Renko,M., Dolenc,I. and
            Turk,V.
  TITLE     Molecular cloning and sequence analysis of human preprocathepsin C
  JOURNAL   FEBS Lett. 369 (2-3), 326-330 (1995)
  MEDLINE   95377428
   PUBMED   7649281
REFERENCE   2  (bases 1 to 1904)
  AUTHORS   Rao,N.V., Rao,G.V. and Hoidal,J.R.
  TITLE     Human dipeptidyl-peptidase I. Gene characterization, localization,
            and expression
  JOURNAL   J. Biol. Chem. 272 (15), 10260-10265 (1997)
  MEDLINE   97248590
   PUBMED   9092576
REFERENCE   3  (bases 1 to 1904)
  AUTHORS   Fischer,J., Blanchet-Bardon,C., Prud'homme,J.F., Pavek,S.,
            Steijlen,P.M., Dubertret,L. and Weissenbach,J.
  TITLE     Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region
  JOURNAL   Eur. J. Hum. Genet. 5 (3), 156-160 (1997)
  MEDLINE   97417366
   PUBMED   9272739
REFERENCE   4  (bases 1 to 1904)
  AUTHORS   Suzuki,Y., Ishihara,D., Sasaki,M., Nakagawa,H., Hata,H.,
            Tsunoda,T., Watanabe,M., Komatsu,T., Ota,T., Isogai,T., Suyama,A.
            and Sugano,S.
  TITLE     Statistical analysis of the 5' untranslated region of human mRNA
            using 'Oligo-Capped' cDNA libraries
  JOURNAL   Genomics 64 (3), 286-297 (2000)
  MEDLINE   20221373
   PUBMED   10756096
REFERENCE   5  (bases 1 to 1904)
  AUTHORS   Allende,L.M., Garcia-Perez,M.A., Moreno,A., Corell,A., Carasol,M.,
            Martinez-Canut,P. and Arnaiz-Villena,A.
  TITLE     Cathepsin C gene: First compound heterozygous patient with
            Papillon-Lefevre syndrome and a novel symptomless mutation
  JOURNAL   Hum. Mutat. 17 (2), 152-153 (2001)
  MEDLINE   21113227
   PUBMED   11180601
REFERENCE   6  (bases 1 to 1904)
  AUTHORS   Turk,D., Janjic,V., Stern,I., Podobnik,M., Lamba,D., Dahl,S.W.,
            Lauritzen,C., Pedersen,J., Turk,V. and Turk,B.
  TITLE     Structure of human dipeptidyl peptidase I (cathepsin C): exclusion
            domain added to an endopeptidase framework creates the machine for
            activation of granular serine proteases
  JOURNAL   EMBO J. 20 (23), 6570-6582 (2001)
  MEDLINE   21583324
   PUBMED   11726493
REFERENCE   7  (bases 1 to 1904)
  AUTHORS   Matsui,K., Yuyama,N., Akaiwa,M., Yoshida,N.L., Maeda,M., Sugita,Y.
            and Izuhara,K.
  TITLE     Identification of an alternative splicing variant of cathepsin
            C/dipeptidyl-peptidase I
  JOURNAL   Gene 293 (1-2), 1-7 (2002)
  MEDLINE   22133301
   PUBMED   12137938
REFERENCE   8  (bases 1 to 1904)
  AUTHORS   Tran,T.V., Ellis,K.A., Kam,C.M., Hudig,D. and Powers,J.C.
  TITLE     Dipeptidyl peptidase I: importance of progranzyme activation
            sequences, other dipeptide sequences, and the N-terminal amino
            group of synthetic substrates for enzyme activity
  JOURNAL   Arch. Biochem. Biophys. 403 (2), 160-170 (2002)
  MEDLINE   22135248
   PUBMED   12139965
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X87212.1 and AU076460.1.
            On Aug 29, 2002 this sequence version replaced gi:4503140.
            Summary: The protein encoded by this gene, a member of the
            peptidase C1 family, is a lysosomal cysteine proteinase that
            appears to be a central coordinator for activation of many serine
            proteinases in immune/inflammatory cells. It is composed of a dimer
            of disulfide-linked heavy and light chains, both produced from a
            single protein precursor. It requires chloride ions for activity
            and can degrade glucagon. Defects in the encoded protein have been
            shown to be a cause of Papillon-Lefevre syndrome, an autosomal
            recessive disorder characterized by palmoplantar keratosis and
            periodontitis. Two transcript variants encoding different isoforms
            have been found for this gene.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1904
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.1-q14.3"
     gene            1..1904
                     /gene="CTSC"
                     /note="HMS; PLS; CPPI; DPPI; PALS"
                     /db_xref="LocusID:1075"
                     /db_xref="MIM:602365"
     CDS             99..1490
                     /gene="CTSC"
                     /EC_number="3.4.14.1"
                     /note="isoform a is encoded by transcript variant 1;
                     dipeptidyl-peptidase I; dipeptidyl transferase; cathepsin
                     J"
                     /codon_start=1
                     /product="cathepsin C isoform a preproprotein"
                     /protein_id="NP_001805.1"
                     /db_xref="GI:4503141"
                     /db_xref="LocusID:1075"
                     /db_xref="MIM:602365"
                     /translation="MGAGPSLLLAALLLLLSGDGAVRCDTPANCTYLDLLGTWVFQVG
                     SSGSQRDVNCSVMGPQEKKVVVYLQKLDTAYDDLGNSGHFTIIYNQGFEIVLNDYKWF
                     AFFKYKEEGSKVTTYCNETMTGWVHDVLGRNWACFTGKKVGTASENVYVNTAHLKNSQ
                     EKYSNRLYKYDHNFVKAINAIQKSWTATTYMEYETLTLGDMIRRSGGHSRKIPRPKPA
                     PLTAEIQQKILHLPTSWDWRNVHGINFVSPVRNQASCGSCYSFASMGMLEARIRILTN
                     NSQTPILSPQEVVSCSQYAQGCEGGFPYLIAGKYAQDFGLVEEACFPYTGTDSPCKMK
                     EDCFRYYSSEYHYVGGFYGGCNEALMKLELVHHGPMAVAFEVYDDFLHYKKGIYHHTG
                     LRDPFNPFELTNHAVLLVGYGTDSASGMDYWIVKNSWGTGWGENGYFRIRRGTDECAI
                     ESIAVAATPIPKL"
     sig_peptide     99..170
                     /gene="CTSC"
     misc_feature    789..1472
                     /gene="CTSC"
                     /note="Region: pfam00112, Peptidase_C1, Papain family
                     cysteine protease"
     misc_feature    789..1466
                     /gene="CTSC"
                     /note="Region: smart00645, Pept_C1, Papain family cysteine
                     protease"
     mat_peptide     789..1280
                     /gene="CTSC"
                     /product="cathepsin C light chain"
     mat_peptide     1281..1487
                     /gene="CTSC"
                     /product="cathepsin C heavy chain"
     misc_feature    1302..1415
                     /gene="CTSC"
                     /note="Region: pfam03051, Pept_C1-like, Peptidase C1-like
                     family. This family is closely related to the Peptidase_C1
                     family pfam00112, containing several prokaryotic and
                     eukaryotic aminopeptidases and bleomycin hydrolases"
     misc_feature    171..1487
                     /gene="CTSC"
                     /note="cathepsin C proprotein"
     polyA_signal    1881..1886
                     /gene="CTSC"
     polyA_site      1899
                     /gene="CTSC"
                     /evidence=experimental
     polyA_site      1904
                     /gene="CTSC"
                     /evidence=experimental
BASE COUNT      520 a    425 c    431 g    528 t
ORIGIN      
        1 agctatttca aggcgcgcgc ctcgtggtgg actcaccgct agcccgcagc gctcggcttc
       61 ctggtaattc ttcacctctt ttctcagctc cctgcagcat gggtgctggg ccctccttgc
      121 tgctcgccgc cctcctgctg cttctctccg gcgacggcgc cgtgcgctgc gacacacctg
      181 ccaactgcac ctatcttgac ctgctgggca cctgggtctt ccaggtgggc tccagcggtt
      241 cccagcgcga tgtcaactgc tcggttatgg gaccacaaga aaaaaaagta gtggtgtacc
      301 ttcagaagct ggatacagca tatgatgacc ttggcaattc tggccatttc accatcattt
      361 acaaccaagg ctttgagatt gtgttgaatg actacaagtg gtttgccttt tttaagtata
      421 aagaagaggg cagcaaggtg accacttact gcaacgagac aatgactggg tgggtgcatg
      481 atgtgttggg ccggaactgg gcttgtttca ccggaaagaa ggtgggaact gcctctgaga
      541 atgtgtatgt caacacagca caccttaaga attctcagga aaagtattct aataggctct
      601 acaagtatga tcacaacttt gtgaaagcta tcaatgccat tcagaagtct tggactgcaa
      661 ctacatacat ggaatatgag actcttaccc tgggagatat gattaggaga agtggtggcc
      721 acagtcgaaa aatcccaagg cccaaacctg caccactgac tgctgaaata cagcaaaaga
      781 ttttgcattt gccaacatct tgggactgga gaaatgttca tggtatcaat tttgtcagtc
      841 ctgttcgaaa ccaagcatcc tgtggcagct gctactcatt tgcttctatg ggtatgctag
      901 aagcgagaat ccgtatacta accaacaatt ctcagacccc aatcctaagc cctcaggagg
      961 ttgtgtcttg tagccagtat gctcaaggct gtgaaggcgg cttcccatac cttattgcag
     1021 gaaagtacgc ccaagatttt gggctggtgg aagaagcttg cttcccctac acaggcactg
     1081 attctccatg caaaatgaag gaagactgct ttcgttatta ctcctctgag taccactatg
     1141 taggaggttt ctatggaggc tgcaatgaag ccctgatgaa gcttgagttg gtccatcatg
     1201 ggcccatggc agttgctttt gaagtatatg atgacttcct ccactacaaa aaggggatct
     1261 accaccacac tggtctaaga gaccctttca acccctttga gctgactaat catgctgttc
     1321 tgcttgtggg ctatggcact gactcagcct ctgggatgga ttactggatt gttaaaaaca
     1381 gctggggcac cggctggggt gagaatggct acttccggat ccgcagagga actgatgagt
     1441 gtgcaattga gagcatagca gtggcagcca caccaattcc taaattgtag ggtatgcctt
     1501 ccagtatttc ataatgatct gcatcagttg taaaggggaa ttggtatatt cacagactgt
     1561 agactttcag cagcaatctc agaagcttac aaatagattt ccatgaagat atttgtcttc
     1621 agaattaaaa ctgcccttaa ttttaatata cctttcaatc ggccactggc catttttttc
     1681 taagtattca attaagtggg aattttctgg aagatggtca gctatgaagt aatagagttt
     1741 gcttaatcat ttgtaattca aacatgctat attttttaaa atcaatgtga aaacatagac
     1801 ttatttttaa attgtaccaa tcacaagaaa ataatggcaa taattatcaa aacttttaaa
     1861 atagatgctc atatttttaa aataaagttt taaaaataac tgca
//



Revised: July 5, 2002.
 
 


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1: NM_005988. Homo sapiens smal...[gi:5174692] Links  


LOCUS       SPRR2A                   219 bp    mRNA    linear   PRI 01-NOV-2000
DEFINITION  Homo sapiens small proline-rich protein 2A (SPRR2A), mRNA.
ACCESSION   NM_005988
VERSION     NM_005988.1  GI:5174692
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 219)
  AUTHORS   Gibbs,S., Lohman,F., Teubel,W., van de Putte,P. and Backendorf,C.
  TITLE     Characterization of the human spr2 promoter: induction after UV
            irradiation or TPA treatment and regulation during differentiation
            of cultured primary keratinocytes
  JOURNAL   Nucleic Acids Res. 18 (15), 4401-4407 (1990)
  MEDLINE   90356372
   PUBMED   2388825
REFERENCE   2  (bases 1 to 219)
  AUTHORS   Gibbs,S., Fijneman,R., Wiegant,J., van Kessel,A.G., van De Putte,P.
            and Backendorf,C.
  TITLE     Molecular characterization and evolution of the SPRR family of
            keratinocyte differentiation markers encoding small proline-rich
            proteins
  JOURNAL   Genomics 16 (3), 630-637 (1993)
  MEDLINE   93315153
   PUBMED   8325635
REFERENCE   3  (bases 1 to 219)
  AUTHORS   Fischer,D.F., Gibbs,S., van De Putte,P. and Backendorf,C.
  TITLE     Interdependent transcription control elements regulate the
            expression of the SPRR2A gene during keratinocyte terminal
            differentiation
  JOURNAL   Mol. Cell. Biol. 16 (10), 5365-5374 (1996)
  MEDLINE   96413286
   PUBMED   8816448
REFERENCE   4  (bases 1 to 219)
  AUTHORS   Fischer,D.F., van Drunen,C.M., Winkler,G.S., van de Putte,P. and
            Backendorf,C.
  TITLE     Involvement of a nuclear matrix association region in the
            regulation of the SPRR2A keratinocyte terminal differentiation
            marker
  JOURNAL   Nucleic Acids Res. 26 (23), 5288-5294 (1998)
  MEDLINE   99045591
   PUBMED   9826750
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from X53064.1.
FEATURES             Location/Qualifiers
     source          1..219
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21-q22"
                     /tissue_type="blood"
                     /clone_lib="EMBL3"
     gene            1..219
                     /gene="SPRR2A"
                     /db_xref="LocusID:6700"
                     /db_xref="MIM:182267"
     CDS             1..219
                     /gene="SPRR2A"
                     /note="cornified envelope precursor; contains 3 internal
                     nonapeptide repeats; head and tail domains are substrates
                     for transglutaminase-mediated cross-linking"
                     /codon_start=1
                     /product="small proline-rich protein 2A"
                     /protein_id="NP_005979.1"
                     /db_xref="GI:5174693"
                     /db_xref="LocusID:6700"
                     /db_xref="MIM:182267"
                     /translation="MSYQQQQCKQPCQPPPVCPTPKCPEPCPPPKCPEPCPPPKCPQP
                     CPPQQCQQKYPPVTPSPPCQSKYPPKSK"
     variation       complement(75)
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3737864"
     variation       112
                     /gene="SPRR2A"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3177677"
     variation       115
                     /gene="SPRR2A"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1048268"
     variation       complement(156)
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3737865"
     variation       complement(193)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:404408"
BASE COUNT       55 a     89 c     41 g     34 t
ORIGIN      
        1 atgtcttatc aacagcagca gtgcaagcag ccctgccagc cacctcctgt gtgccccacg
       61 ccaaagtgcc cagagccatg tccacccccg aagtgccctg agccctgccc accaccaaag
      121 tgtccacagc cctgcccacc tcagcagtgc cagcagaaat atcctcctgt gacaccttcc
      181 ccaccctgcc agtcaaagta tccacccaag agcaagtaa
//



Revised: July 5, 2002.
 
 


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NCBI | NLM | NIH 

 

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1: NM_000410. Homo sapiens hemo...[gi:21040337] Links  


LOCUS       HFE                     2727 bp    mRNA    linear   PRI 21-MAY-2002
DEFINITION  Homo sapiens hemochromatosis (HFE), transcript variant 1, mRNA.
ACCESSION   NM_000410
VERSION     NM_000410.2  GI:21040337
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2727)
  AUTHORS   Edwards,C.Q., Griffen,L.M., Dadone,M.M., Skolnick,M.H. and
            Kushner,J.P.
  TITLE     Mapping the locus for hereditary hemochromatosis: localization
            between HLA-B and HLA-A
  JOURNAL   Am. J. Hum. Genet. 38 (6), 805-811 (1986)
  MEDLINE   86265593
   PUBMED   3460331
REFERENCE   2  (bases 1 to 2727)
  AUTHORS   Geraghty,D.E., Koller,B.H., Pei,J. and Hansen,J.A.
  TITLE     Examination of four HLA class I pseudogenes. Common events in the
            evolution of HLA genes and pseudogenes
  JOURNAL   J. Immunol. 149 (6), 1947-1956 (1992)
  MEDLINE   92388662
   PUBMED   1517564
REFERENCE   3  (bases 1 to 2727)
  AUTHORS   Feder,J.N., Gnirke,A., Thomas,W., Tsuchihashi,Z., Ruddy,D.A.,
            Basava,A., Dormishian,F., Domingo,R. Jr., Ellis,M.C., Fullan,A.,
            Hinton,L.M., Jones,N.L., Kimmel,B.E., Kronmal,G.S., Lauer,P.,
            Lee,V.K., Loeb,D.B., Mapa,F.A., McClelland,E., Meyer,N.C.,
            Mintier,G.A., Moeller,N., Moore,T., Morikang,E., Prass,C.E.,
            Quintana,L., Starnes,S.M., Schatzman,R.C., Brunke,K.J.,
            Drayna,D.T., Risch,N.J., Bacon,B.R. and Wolff,R.K.
  TITLE     A novel MHC class I-like gene is mutated in patients with
            hereditary haemochromatosis
  JOURNAL   Nat. Genet. 13 (4), 399-408 (1996)
  MEDLINE   96331279
   PUBMED   8696333
REFERENCE   4  (bases 1 to 2727)
  AUTHORS   Albig,W., Drabent,B., Burmester,N., Bode,C. and Doenecke,D.
  TITLE     The haemochromatosis candidate gene HFE (HLA-H) of man and mouse is
            located in syntenic regions within the histone gene cluster
  JOURNAL   J. Cell. Biochem. 69 (2), 117-126 (1998)
  MEDLINE   98208340
   PUBMED   9548560
REFERENCE   5  (bases 1 to 2727)
  AUTHORS   Roy,C.N., Penny,D.M., Feder,J.N. and Enns,C.A.
  TITLE     The hereditary hemochromatosis protein, HFE, specifically regulates
            transferrin-mediated iron uptake in HeLa cells
  JOURNAL   J. Biol. Chem. 274 (13), 9022-9028 (1999)
  MEDLINE   99185134
   PUBMED   10085150
REFERENCE   6  (bases 1 to 2727)
  AUTHORS   Rhodes,D.A. and Trowsdale,J.
  TITLE     Alternate splice variants of the hemochromatosis gene Hfe
  JOURNAL   Immunogenetics 49 (4), 357-359 (1999)
  MEDLINE   99180629
   PUBMED   10079302
REFERENCE   7  (bases 1 to 2727)
  AUTHORS   Bennett,M.J., Lebron,J.A. and Bjorkman,P.J.
  TITLE     Crystal structure of the hereditary haemochromatosis protein HFE
            complexed with transferrin receptor
  JOURNAL   Nature 403 (6765), 46-53 (2000)
  MEDLINE   20102284
   PUBMED   10638746
REFERENCE   8  (bases 1 to 2727)
  AUTHORS   Thenie,A., Orhant,M., Gicquel,I., Fergelot,P., Le Gall,J.Y.,
            David,V. and Mosser,J.
  TITLE     The HFE gene undergoes alternate splicing processes
  JOURNAL   Blood Cells Mol. Dis. 26 (2), 155-162 (2000)
  MEDLINE   20448010
   PUBMED   11001625
REFERENCE   9  (bases 1 to 2727)
  AUTHORS   Sanchez,M., Bruguera,M., Rodes,J. and Oliva,R.
  TITLE     Complete characterization of the 3' region of the human and mouse
            hereditary hemochromatosis HFE gene and detection of novel splicing
            forms
  JOURNAL   Blood Cells Mol. Dis. 27 (1), 35-43 (2001)
  MEDLINE   21257661
   PUBMED   11358357
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U60319.1.
            On May 21, 2002 this sequence version replaced gi:4504376.
            Summary: The protein encoded by this gene is a membrane protein
            that is similar to MHC class I-type proteins and associates with
            beta2-microglobulin (beta2M). It is thought that this protein
            functions to regulate iron absorption by regulating the interaction
            of the transferrin receptor with transferrin. The iron storage
            disorder, hereditary haemochromatosis, is a recessive genetic
            disorder that results from defects in this gene. At least eleven
            alternatively spliced variants have been described for this gene.
            Additional variants have been found but their full length nature
            has not been determined.
            Transcript Variant: This variant (1) encodes the longest isoform.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2727
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.3"
     gene            1..2727
                     /gene="HFE"
                     /note="HLA-H"
                     /db_xref="LocusID:3077"
                     /db_xref="MIM:235200"
     CDS             222..1268
                     /gene="HFE"
                     /note="isoform 1 is encoded by transcript variant 1;
                     hereditary haemochromatosis protein"
                     /codon_start=1
                     /product="hemochromatosis protein isoform 1 precursor"
                     /protein_id="NP_000401.1"
                     /db_xref="GI:4504377"
                     /db_xref="LocusID:3077"
                     /db_xref="MIM:235200"
                     /translation="MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGL
                     SLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDF
                     WTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEP
                     RAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTS
                     SVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGE
                     EQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQG
                     SRGAMGHYVLAERE"
     sig_peptide     222..287
                     /gene="HFE"
     mat_peptide     288..1265
                     /gene="HFE"
                     /product="hemochromatosis protein isoform 1"
     misc_feature    300..827
                     /gene="HFE"
                     /note="MHC_I; Region: Class I Histocompatibility antigen,
                     domains alpha 1 and 2"
                     /db_xref="CDD:pfam00129"
     misc_feature    888..1097
                     /gene="HFE"
                     /note="IGc1; Region: Immunoglobulin C-Type"
                     /db_xref="CDD:smart00407"
     misc_feature    888..1073
                     /gene="HFE"
                     /note="ig; Region: Immunoglobulin domain"
                     /db_xref="CDD:pfam00047"
     variation       1783
                     /gene="HFE"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3177318"
     variation       1842
                     /gene="HFE"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1045533"
     variation       2408
                     /gene="HFE"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1045537"
     polyA_signal    2696..2701
                     /gene="HFE"
     variation       2706
                     /gene="HFE"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1128464"
     variation       2706
                     /gene="HFE"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3185446"
     polyA_site      2717
                     /gene="HFE"
BASE COUNT      707 a    604 c    656 g    760 t
ORIGIN      
        1 ggggacactg gatcacctag tgtttcacaa gcaggtacct tctgctgtag gagagagaga
       61 actaaagttc tgaaagacct gttgcttttc accaggaagt tttactgggc atctcctgag
      121 cctaggcaat agctgtaggg tgacttctgg agccatcccc gtttccccgc cccccaaaag
      181 aagcggagat ttaacgggga cgtgcggcca gagctgggga aatgggcccg cgagccaggc
      241 cggcgcttct cctcctgatg cttttgcaga ccgcggtcct gcaggggcgc ttgctgcgtt
      301 cacactctct gcactacctc ttcatgggtg cctcagagca ggaccttggt ctttccttgt
      361 ttgaagcttt gggctacgtg gatgaccagc tgttcgtgtt ctatgatcat gagagtcgcc
      421 gtgtggagcc ccgaactcca tgggtttcca gtagaatttc aagccagatg tggctgcagc
      481 tgagtcagag tctgaaaggg tgggatcaca tgttcactgt tgacttctgg actattatgg
      541 aaaatcacaa ccacagcaag gagtcccaca ccctgcaggt catcctgggc tgtgaaatgc
      601 aagaagacaa cagtaccgag ggctactgga agtacgggta tgatgggcag gaccaccttg
      661 aattctgccc tgacacactg gattggagag cagcagaacc cagggcctgg cccaccaagc
      721 tggagtggga aaggcacaag attcgggcca ggcagaacag ggcctacctg gagagggact
      781 gccctgcaca gctgcagcag ttgctggagc tggggagagg tgttttggac caacaagtgc
      841 ctcctttggt gaaggtgaca catcatgtga cctcttcagt gaccactcta cggtgtcggg
      901 ccttgaacta ctacccccag aacatcacca tgaagtggct gaaggataag cagccaatgg
      961 atgccaagga gttcgaacct aaagacgtat tgcccaatgg ggatgggacc taccagggct
     1021 ggataacctt ggctgtaccc cctggggaag agcagagata tacgtgccag gtggagcacc
     1081 caggcctgga tcagcccctc attgtgatct gggagccctc accgtctggc accctagtca
     1141 ttggagtcat cagtggaatt gctgtttttg tcgtcatctt gttcattgga attttgttca
     1201 taatattaag gaagaggcag ggttcaagag gagccatggg gcactacgtc ttagctgaac
     1261 gtgagtgaca cgcagcctgc agactcactg tgggaaggag acaaaactag agactcaaag
     1321 agggagtgca tttatgagct cttcatgttt caggagagag ttgaacctaa acatagaaat
     1381 tgcctgacga actccttgat tttagccttc tctgttcatt tcctcaaaaa gatttcccca
     1441 tttaggtttc tgagttcctg catgccggtg atccctagct gtgacctctc ccctggaact
     1501 gtctctcatg aacctcaagc tgcatctaga ggcttccttc atttcctccg tcacctcaga
     1561 gacatacacc tatgtcattt catttcctat ttttggaaga ggactcctta aatttggggg
     1621 acttacatga ttcattttaa catctgagaa aagctttgaa ccctgggacg tggctagtca
     1681 taaccttacc agatttttac acatgtatct atgcattttc tggacccgtt caacttttcc
     1741 tttgaatcct ctctctgtgt tacccagtaa ctcatctgtc accaagcctt ggggattctt
     1801 ccatctgatt gtgatgtgag ttgcacagct atgaaggctg tacactgcac gaatggaaga
     1861 ggcacctgtc ccagaaaaag catcatggct atctgtgggt agtatgatgg gtgtttttag
     1921 caggtaggag gcaaatatct tgaaaggggt tgtgaagagg tgttttttct aattggcatg
     1981 aaggtgtcat acagatttgc aaagtttaat ggtgccttca tttgggatgc tactctagta
     2041 ttccagacct gaagaatcac aataattttc tacctggtct ctccttgttc tgataatgaa
     2101 aattatgata aggatgataa aagcacttac ttcgtgtccg actcttctga gcacctactt
     2161 acatgcatta ctgcatgcac ttcttacaat aattctatga gataggtact attatcccca
     2221 tttctttttt aaatgaagaa agtgaagtag gccgggcacg gtggctcacg cctgtaatcc
     2281 cagggtgctg agattacagg tgtgagccac cctgcccagc cgtcaaaaga gtcttaatat
     2341 atatatccag atggcatgtg tttactttat gttactacat gcacttggct gcataaatgt
     2401 ggtacaagca ttctgtcttg aagggcaggt gcttcaggat accatataca gctcagaagt
     2461 ttcttcttta ggcattaaat tttagcaaag atatctcatc tcttctttta aaccattttc
     2521 tttttttgtg gttagaaaag ttatgtagaa aaaagtaaat gtgatttacg ctcattgtag
     2581 aaaagctata aaatgaatac aattaaagct gttatttaat tagccagtga aaaactatta
     2641 acaacttgtc tattacctgt tagtattatt gttgcattaa aaatgcatat actttaataa
     2701 atgtatattg tattgtaaaa aaaaaaa
//



Revised: July 5, 2002.
 
 


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1: NM_016109. Homo sapiens angi...[gi:21536395] Links  


LOCUS       ANGPTL4                 1843 bp    mRNA    linear   PRI 21-JUN-2002
DEFINITION  Homo sapiens angiopoietin-like 4 (ANGPTL4), transcript variant 2,
            mRNA.
ACCESSION   NM_016109
VERSION     NM_016109.2  GI:21536395
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1843)
  AUTHORS   Kim,I., Kim,H.G., Kim,H., Kim,H.H., Park,S.K., Uhm,C.S., Lee,Z.H.
            and Koh,G.Y.
  TITLE     Hepatic expression, synthesis and secretion of a novel
            fibrinogen/angiopoietin-related protein that prevents
            endothelial-cell apoptosis
  JOURNAL   Biochem. J. 346 Pt 3, 603-610 (2000)
  MEDLINE   20164042
   PUBMED   10698685
REFERENCE   2  (bases 1 to 1843)
  AUTHORS   Yoon,J.C., Chickering,T.W., Rosen,E.D., Dussault,B., Qin,Y.,
            Soukas,A., Friedman,J.M., Holmes,W.E. and Spiegelman,B.M.
  TITLE     Peroxisome proliferator-activated receptor gamma target gene
            encoding a novel angiopoietin-related protein associated with
            adipose differentiation
  JOURNAL   Mol. Cell. Biol. 20 (14), 5343-5349 (2000)
  MEDLINE   20325357
   PUBMED   10866690
REFERENCE   3  (bases 1 to 1843)
  AUTHORS   Zhu,H., Li,J., Qin,W., Yang,Y., He,X., Wan,D. and Gu,J.
  TITLE     Cloning of a novel gene, ANGPTL4 and the functional study in
            angiogenesis
  JOURNAL   Chung-Hua I Hsueh Tsa Chih 82 (2), 94-99 (2002)
  MEDLINE   21951180
   PUBMED   11953136
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF153606.1, BG424907.1 and
            AF202636.1.
            On Jun 21, 2002 this sequence version replaced gi:7705828.
            Summary: Peroxisome proliferator-activated receptor gamma is a
            nuclear receptor which regulates adipose differentiation and
            glucose homeostasis. It acts through ligand-dependent
            transcriptional activation of target genes. This gene is one of the
            targets of peroxisome proliferator-activated receptor gamma and
            encodes an angiopoietin-like secreted glycoprotein. This gene also
            has been referred to as ANGPTL2, although a different gene exists
            with that same designation. Two transcript variants encoding the
            same protein have been found for this gene.
            Transcript Variant: This variant (2) differs only in the 3' UTR as
            compared to variant 1.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1843
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..1843
                     /gene="ANGPTL4"
                     /note="FIAF; PGAR; HFARP; PPARG; PP1158; ANGPTL2"
                     /db_xref="LocusID:51129"
                     /db_xref="MIM:605910"
     CDS             196..1416
                     /gene="ANGPTL4"
                     /note="hepatic angiopoietin-related protein; PPARG
                     angiopoietin related protein; fasting-induced adipose
                     factor; hepatic fibrinogen/angiopoietin-related protein"
                     /codon_start=1
                     /product="angiopoietin-like 4 protein"
                     /protein_id="NP_057193.2"
                     /db_xref="GI:21536396"
                     /db_xref="LocusID:51129"
                     /db_xref="MIM:605910"
                     /translation="MSGAPTAGAALMLCAATAVLLSAQGGPVQSKSPRFASWDEMNVL
                     AHGLLQLGQGLREHAERTRSQLSALERRLSACGSACQGTEGSTDLPLAPESRVDPEVL
                     HSLQTQLKAQNSRIQQLFHKVAQQQRHLEKQHLRIQHLQSQFGLLDHKHLDHEVAKPA
                     RRKRLPEMAQPVDPAHNVSRLHRLPRDCQELFQVGERQSGLFEIQPQGSPPFLVNCKM
                     TSDGGWTVIQRRHDGSVDFNRPWEAYKAGFGDPHGEFWLGLEKVHSITGDRNSRLAVQ
                     LRDWDGNAELLQFSVHLGGEDTAYSLQLTAPVAGQLGATTVPPSGLSVPFSTWDQDHD
                     LRRDKNCAKSLSGGWWFGTCSHSNLNGQYFRSIPQQRQKLKKGIFWKTWRGRYYPLQA
                     TTMLIQPMAAEAAS"
     misc_feature    745..1395
                     /gene="ANGPTL4"
                     /note="Region: smart00186, FBG, Fibrinogen-related domains
                     (FReDs); Domain present at the C-termini of fibrinogen
                     beta and gamma chains, and a variety of fibrinogen-related
                     proteins, including tenascin and Drosophila scabrous"
     misc_feature    748..1392
                     /gene="ANGPTL4"
                     /note="Region: pfam00147, fibrinogen_C, Fibrinogen beta
                     and gamma chains, C-terminal globular domain"
     variation       625
                     /gene="ANGPTL4"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3210978"
     variation       626
                     /gene="ANGPTL4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3210979"
     variation       992
                     /gene="ANGPTL4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1044250"
     variation       1275
                     /gene="ANGPTL4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3183953"
     variation       1401
                     /gene="ANGPTL4"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3210980"
     variation       1404
                     /gene="ANGPTL4"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3210981"
     variation       1405
                     /gene="ANGPTL4"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3210982"
     variation       1409
                     /gene="ANGPTL4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3210983"
     variation       1411
                     /gene="ANGPTL4"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3210984"
     variation       1413
                     /gene="ANGPTL4"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3210985"
     variation       1419
                     /gene="ANGPTL4"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3210986"
     variation       1421
                     /gene="ANGPTL4"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3210987"
     variation       1422
                     /gene="ANGPTL4"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3210988"
     variation       1426
                     /gene="ANGPTL4"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3210989"
     variation       1431
                     /gene="ANGPTL4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3210990"
     variation       complement(1531)
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:10024"
     variation       1689
                     /gene="ANGPTL4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1801507"
     variation       1815
                     /gene="ANGPTL4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1127746"
     variation       1815
                     /gene="ANGPTL4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3170536"
     polyA_signal    1820..1825
                     /gene="ANGPTL4"
     polyA_site      1840
                     /gene="ANGPTL4"
                     /evidence=experimental
     polyA_site      1843
                     /gene="ANGPTL4"
                     /evidence=experimental
BASE COUNT      364 a    587 c    581 g    311 t
ORIGIN      
        1 ataaaaaccg tcctcgggcg cggcggggag aagccgagct gagcggatcc tcacacgact
       61 gtgatccgat tctttccagc ggcttctgca accaagcggg tcttaccccc ggtcctccgc
      121 gtctccagtc ctcgcacctg gaaccccaac gtccccgaga gtccccgaat ccccgctccc
      181 aggctaccta agaggatgag cggtgctccg acggccgggg cagccctgat gctctgcgcc
      241 gccaccgccg tgctactgag cgctcagggc ggacccgtgc agtccaagtc gccgcgcttt
      301 gcgtcctggg acgagatgaa tgtcctggcg cacggactcc tgcagctcgg ccaggggctg
      361 cgcgaacacg cggagcgcac ccgcagtcag ctgagcgcgc tggagcggcg cctgagcgcg
      421 tgcgggtccg cctgtcaggg aaccgagggg tccaccgacc tcccgttagc ccctgagagc
      481 cgggtggacc ctgaggtcct tcacagcctg cagacacaac tcaaggctca gaacagcagg
      541 atccagcaac tcttccacaa ggtggcccag cagcagcggc acctggagaa gcagcacctg
      601 cgaattcagc atctgcaaag ccagtttggc ctcctggacc acaagcacct agaccatgag
      661 gtggccaagc ctgcccgaag aaagaggctg cccgagatgg cccagccagt tgacccggct
      721 cacaatgtca gccgcctgca ccggctgccc agggattgcc aggagctgtt ccaggttggg
      781 gagaggcaga gtggactatt tgaaatccag cctcaggggt ctccgccatt tttggtgaac
      841 tgcaagatga cctcagatgg aggctggaca gtaattcaga ggcgccacga tggctcagtg
      901 gacttcaacc ggccctggga agcctacaag gcggggtttg gggatcccca cggcgagttc
      961 tggctgggtc tggagaaggt gcatagcatc acgggggacc gcaacagccg cctggccgtg
     1021 cagctgcggg actgggatgg caacgccgag ttgctgcagt tctccgtgca cctgggtggc
     1081 gaggacacgg cctatagcct gcagctcact gcacccgtgg ccggccagct gggcgccacc
     1141 accgtcccac ccagcggcct ctccgtaccc ttctccactt gggaccagga tcacgacctc
     1201 cgcagggaca agaactgcgc caagagcctc tctggaggct ggtggtttgg cacctgcagc
     1261 cattccaacc tcaacggcca gtacttccgc tccatcccac agcagcggca gaagcttaag
     1321 aagggaatct tctggaagac ctggcggggc cgctactacc cgctgcaggc caccaccatg
     1381 ttgatccagc ccatggcagc agaggcagcc tcctagcgtc ctggctgggc ctggtcccag
     1441 gcccacgaaa gacggtgact cttggctctg cccgaggatg tggccaagac cacgactgga
     1501 gaagccccct ttctgagtgc aggggggctg catgcgttgc ctcctgagat cgaggctgca
     1561 ggatatgctc agactctaga ggcgtggacc aaggggcatg gagcttcact ccttgctggc
     1621 cagggagttg gggactcaga gggaccactt ggggccagcc agactggcct caatggcgga
     1681 ctcagtcaca ttgactgacg gggaccaggg cttgtgtggg tcgagagcgc cctcatggtg
     1741 ctggtgctgt tgtgtgtagg tcccctgggg acacaagcag gcgccaatgg tatctgggcg
     1801 gagctcacag agttcttgga ataaaagcaa cctcagaaca ctt
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

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&&&&&&&


    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene  for        
 
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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_002317. Homo sapiens lysy...[gi:21264603] Links  


LOCUS       LOX                     1946 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens lysyl oxidase (LOX), mRNA.
ACCESSION   NM_002317
VERSION     NM_002317.3  GI:21264603
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1946)
  AUTHORS   Kuivaniemi,H., Savolainen,E.R. and Kivirikko,K.I.
  TITLE     Human placental lysyl oxidase. Purification, partial
            characterization, and preparation of two specific antisera to the
            enzyme
  JOURNAL   J. Biol. Chem. 259 (11), 6996-7002 (1984)
  MEDLINE   84212548
   PUBMED   6144680
REFERENCE   2  (bases 1 to 1946)
  AUTHORS   Hamalainen,E.R., Jones,T.A., Sheer,D., Taskinen,K., Pihlajaniemi,T.
            and Kivirikko,K.I.
  TITLE     Molecular cloning of human lysyl oxidase and assignment of the gene
            to chromosome 5q23.3-31.2
  JOURNAL   Genomics 11 (3), 508-516 (1991)
  MEDLINE   92128932
   PUBMED   1685472
REFERENCE   3  (bases 1 to 1946)
  AUTHORS   Mariani,T.J., Trackman,P.C., Kagan,H.M., Eddy,R.L., Shows,T.B.,
            Boyd,C.D. and Deak,S.B.
  TITLE     The complete derived amino acid sequence of human lysyl oxidase and
            assignment of the gene to chromosome 5 (extensive sequence homology
            with the murine ras recision gene)
  JOURNAL   Matrix 12 (3), 242-248 (1992)
  MEDLINE   93024096
   PUBMED   1357535
REFERENCE   4  (bases 1 to 1946)
  AUTHORS   Svinarich,D.M., Twomey,T.A., Macauley,S.P., Krebs,C.J., Yang,T.P.
            and Krawetz,S.A.
  TITLE     Characterization of the human lysyl oxidase gene locus
  JOURNAL   J. Biol. Chem. 267 (20), 14382-14387 (1992)
  MEDLINE   92332554
   PUBMED   1352776
REFERENCE   5  (bases 1 to 1946)
  AUTHORS   Csiszar,K., Mariani,T.J., Gosin,J.S., Deak,S.B. and Boyd,C.D.
  TITLE     A restriction fragment length polymorphism results in a
            nonconservative amino acid substitution encoded within the first
            exon of the human lysyl oxidase gene
  JOURNAL   Genomics 16 (2), 401-406 (1993)
  MEDLINE   93300514
   PUBMED   8100215
REFERENCE   6  (bases 1 to 1946)
  AUTHORS   Hamalainen,E.R., Kemppainen,R., Pihlajaniemi,T. and Kivirikko,K.I.
  TITLE     Structure of the human lysyl oxidase gene
  JOURNAL   Genomics 17 (3), 544-548 (1993)
  MEDLINE   94063892
   PUBMED   7902322
REFERENCE   7  (bases 1 to 1946)
  AUTHORS   Contente,S., Kenyon,K., Sriraman,P., Subramanyan,S. and
            Friedman,R.M.
  TITLE     Epigenetic inhibition of lysyl oxidase transcription after
            transformation by ras oncogene
  JOURNAL   Mol. Cell. Biochem. 194 (1-2), 79-91 (1999)
  MEDLINE   99318011
   PUBMED   10391127
REFERENCE   8  (bases 1 to 1946)
  AUTHORS   Martins,R.P., Ujfalusi,A.A., Csiszar,K. and Krawetz,S.A.
  TITLE     Characterization of the region encompassing the human lysyl oxidase
            locus
  JOURNAL   DNA Seq. 12 (4), 215-227 (2001)
  MEDLINE   21913078
   PUBMED   11916256
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF039291.1 and AF039290.1.
            On May 30, 2002 this sequence version replaced gi:20149539.
            Summary: The protein encoded by this gene is an extracellular
            copper enzyme that initiates the crosslinking of collagens and
            elastin. The enzyme catalyzes oxidative deamination of the
            epsilon-amino group in certain lysine and hydroxylysine residues of
            collagens and lysine residues of elastin. In addition to
            crosslinking extracellular matrix proteins, the encoded protein may
            have a role in tumor suppression.
FEATURES             Location/Qualifiers
     source          1..1946
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q23.2"
     gene            1..1946
                     /gene="LOX"
                     /db_xref="LocusID:4015"
                     /db_xref="MIM:153455"
     CDS             274..1527
                     /gene="LOX"
                     /EC_number="1.4.3.13"
                     /note="protein-lysine 6-oxidase"
                     /codon_start=1
                     /product="lysyl oxidase preproprotein"
                     /protein_id="NP_002308.2"
                     /db_xref="GI:20149540"
                     /db_xref="LocusID:4015"
                     /db_xref="MIM:153455"
                     /translation="MRFAWTVLLLGPLQLCALVHCAPPAAGQQQPPREPPAAPGAWRQ
                     QIQWENNGQVFSLLSLGSQYQPQRRRDPGAAVPGAANASAQQPRTPILLIRDNRTAAA
                     RTRTAGSSGVTAGRPRPTARHWFQAGYSTSRAREAGASRAENQTAPGEVPALSNLRPP
                     SRVDGMVGDDPYNPYKYSDDNPYYNYYDTYERPRPGGRYRPGYGTGYFQYGLPDLVAD
                     PYYIQASTYVQKMSMYNLRCAAEENCLASTAYRADVRDYDHRVLLRFPQRVKNQGTSD
                     FLPSRPRYSWEWHSCHQHYHSMDEFSHYDLLDANTQRRVAEGHKASFCLEDTSCDYGY
                     HRRFACTAHTQGLSPGCYDTYGADIDCQWIDITDVKPGNYILKVSVNPSYLVPESDYT
                     NNVVRCDIRYTGHHAYASGCTISPY"
     sig_peptide     274..336
                     /gene="LOX"
     mat_peptide     778..1524
                     /gene="LOX"
                     /product="lysyl oxidase"
     misc_feature    910..1524
                     /gene="LOX"
                     /note="Region: pfam01186, Lysyl_oxidase, Lysyl oxidase"
     misc_feature    337..1524
                     /gene="LOX"
                     /note="lysyl oxidase proprotein"
     variation       498
                     /gene="LOX"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2278226"
     variation       complement(682)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2914604"
     variation       746
                     /gene="LOX"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1800449"
     polyA_site      1807
                     /gene="LOX"
                     /evidence=experimental
BASE COUNT      485 a    540 c    483 g    438 t
ORIGIN      
        1 agacactgcc cgctctccgg gactccgcgc cgctccccgt tgccttccag gactgagaaa
       61 ggggaaaggg aagggtgcca cgtccgagca gccgccttga ctggggaagg gtctgaatcc
      121 cacccttggc attgcttggt ggagactgag atacccgtgc tccgctcgcc tccttggttg
      181 aagatttctc cttccctcac gtgatttgag ccccgttttt attttctgtg agccacgtcc
      241 tcctcgagcg gggtcaatct ggcaaaagga gtgatgcgct tcgcctggac cgtgctcctg
      301 ctcgggcctt tgcagctctg cgcgctagtg cactgcgccc ctcccgccgc cggccaacag
      361 cagcccccgc gcgagccgcc ggcggctccg ggcgcctggc gccagcagat ccaatgggag
      421 aacaacgggc aggtgttcag cttgctgagc ctgggctcac agtaccagcc tcagcgccgc
      481 cgggacccgg gcgccgccgt ccctggtgca gccaacgcct ccgcccagca gccccgcact
      541 ccgatcctgc tgatccgcga caaccgcacc gccgcggcgc gaacgcggac ggccggctca
      601 tctggagtca ccgctggccg ccccaggccc accgcccgtc actggttcca agctggctac
      661 tcgacatcta gagcccgcga agctggcgcc tcgcgcgcgg agaaccagac agcgccggga
      721 gaagttcctg cgctcagtaa cctgcggccg cccagccgcg tggacggcat ggtgggcgac
      781 gacccttaca acccctacaa gtactctgac gacaaccctt attacaacta ctacgatact
      841 tatgaaaggc ccagacctgg gggcaggtac cggcccggat acggcactgg ctacttccag
      901 tacggtctcc cagacctggt ggccgacccc tactacatcc aggcgtccac gtacgtgcag
      961 aagatgtcca tgtacaacct gagatgcgcg gcggaggaaa actgtctggc cagtacagca
     1021 tacagggcag atgtcagaga ttatgatcac agggtgctgc tcagatttcc ccaaagagtg
     1081 aaaaaccaag ggacatcaga tttcttaccc agccgaccaa gatattcctg ggaatggcac
     1141 agttgtcatc aacattacca cagtatggat gagtttagcc actatgacct gcttgatgcc
     1201 aacacccaga ggagagtggc tgaaggccac aaagcaagtt tctgtcttga agacacatcc
     1261 tgtgactatg gctaccacag gcgatttgca tgtactgcac acacacaggg attgagtcct
     1321 ggctgttatg atacctatgg tgcagacata gactgccagt ggattgatat tacagatgta
     1381 aaacctggaa actatatcct aaaggtcagt gtaaacccca gctacctggt tcctgaatct
     1441 gactatacca acaatgttgt gcgctgtgac attcgctaca caggacatca tgcgtatgcc
     1501 tcaggctgca caatttcacc gtattagaag gcaaagcaaa actcccaatg gataaatcag
     1561 tgcctggtgt tctgaagtgg gaaaaaatag actaacttca gtaggattta tgtattttga
     1621 aaaagagaac agaaaacaac aaaagaattt ttgtttggac tgttttcaat aacaaagcac
     1681 ataactggat tttgaacgct taagtcatca ttacttggga aatttttaat gtttattatt
     1741 tacatcactt tgtgaattaa cacagtgttt caattctgta attacatatt tgactctttc
     1801 aaagaaatcc aaatttctca tgttcctttt gaaattgtag tgcaaaatgg tcagtattat
     1861 ctaaatgaat gagccaaaat gactttgaac tgaaactttt ctaaagtgct ggaactttag
     1921 tgaaacataa taataatggg tttata
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_000528. Homo sapiens mann...[gi:10834967] Links  


LOCUS       MAN2B1                  3443 bp    mRNA    linear   PRI 18-AUG-2002
DEFINITION  Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), mRNA.
ACCESSION   NM_000528
VERSION     NM_000528.1  GI:10834967
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3443)
  AUTHORS   Nebes,V.L. and Schmidt,M.C.
  TITLE     Human lysosomal alpha-mannosidase: isolation and nucleotide
            sequence of the full-length cDNA
  JOURNAL   Biochem. Biophys. Res. Commun. 200 (1), 239-245 (1994)
  MEDLINE   94220092
   PUBMED   8166692
REFERENCE   2  (bases 1 to 3443)
  AUTHORS   Emiliani,C., Martino,S., Stirling,J.L., Maras,B. and Orlacchio,A.
  TITLE     Partial sequence of the purified protein confirms the identity of
            cDNA coding for human lysosomal alpha-mannosidase B
  JOURNAL   Biochem. J. 305 (Pt 2), 363-366 (1995)
  MEDLINE   95134211
   PUBMED   7832746
REFERENCE   3  (bases 1 to 3443)
  AUTHORS   Liao,Y.F., Lal,A. and Moremen,K.W.
  TITLE     Cloning, expression, purification, and characterization of the
            human broad specificity lysosomal acid alpha-mannosidase
  JOURNAL   J. Biol. Chem. 271 (45), 28348-28358 (1996)
  MEDLINE   97067056
   PUBMED   8910458
REFERENCE   4  (bases 1 to 3443)
  AUTHORS   Nilssen,O., Berg,T., Riise,H.M., Ramachandran,U., Evjen,G.,
            Hansen,G.M., Malm,D., Tranebjaerg,L. and Tollersrud,O.K.
  TITLE     alpha-Mannosidosis: functional cloning of the lysosomal
            alpha-mannosidase cDNA and identification of a mutation in two
            affected siblings
  JOURNAL   Hum. Mol. Genet. 6 (5), 717-726 (1997)
  MEDLINE   97301768
   PUBMED   9158146
REFERENCE   5  (bases 1 to 3443)
  AUTHORS   Riise,H.M., Berg,T., Nilssen,O., Romeo,G., Tollersrud,O.K. and
            Ceccherini,I.
  TITLE     Genomic structure of the human lysosomal alpha-mannosidase gene
            (MANB)
  JOURNAL   Genomics 42 (2), 200-207 (1997)
  MEDLINE   97336044
   PUBMED   9192839
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from U60899.1.
FEATURES             Location/Qualifiers
     source          1..3443
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19cen-q13.1"
     gene            1..3443
                     /gene="MAN2B1"
                     /note="MANB; LAMAN"
                     /db_xref="LocusID:4125"
                     /db_xref="MIM:248500"
     CDS             310..3342
                     /gene="MAN2B1"
                     /note="mannosidase, alpha B, lysosomal"
                     /codon_start=1
                     /product="mannosidase, alpha, class 2B, member 1"
                     /protein_id="NP_000519.1"
                     /db_xref="GI:10834968"
                     /db_xref="LocusID:4125"
                     /db_xref="MIM:248500"
                     /translation="MGYARASGVCARGCLDSAGPWTMSRALRPPLPPLCFFLLLLAAA
                     GARAGGYETCPTVQPNMLNVHLLPHTHDDVGWLKTVDQYFYGIKNDIQHAGVQYILDS
                     VISALLADPTRRFIYVEIAFFSRWWHQQTNATQEVVRDLVRQGRLEFANGGWVMNDEA
                     ATHYGAIVDQMTLGLRFLEDTFGNDGRPRVAWHIDPFGHSREQASLFAQMGFDGFFFG
                     RLDYQDKWVRMQKLEMEQVWRASTSLKPPTADLFTGVLPNGYNPPRNLCWDVLCVDQP
                     LVEDPRSPEYNAKELVDYFLNVATAQGRYYRTNHTVMTMGSDFQYENANMWFKNLDKL
                     IRLVNAQQAKGSSVHVLYSTPACYLWELNKANLTWSVKHDDFFPYADGPHQFWTGYFS
                     SRPALKRYERLSYNFLQVCNQLEALVGLAANVGPYGSGDSAPLNEAMAVLQHHDAVSG
                     TSRQHVANDYARQLAAGWGPCEVLLSNALARLRGFKDHFTFCQQLNISICPLSQTAAR
                     FQVIVYNPLGRKVNWMVRLPVSEGVFVVKDPNGRTVPSDVVIFPSSDSQAHPPELLFS
                     ASLPALGFSTYSVAQVPRWKPQARAPQPIPRRSWSPALTIENEHIRATFDPDTGLLME
                     IMNMNQQLLLPVRQTFFWYNASIGDNESDQASGAYIFRPNQQKPLPVSRWAQIHLVKT
                     PLVQEVHQNFSAWCSQVVRLYPGQRHLELEWSVGPIPVGDTWGKEVISRFDTPLETKG
                     RFYTDSNGREILERRRDYRPTWKLNQTEPVAGNYYPVNTRIYITDGNMQLTVLTDRSQ
                     GGSSLRDGSLELMVHRRLLKDDGRGVSEPLMENGSGAWVRGRHLVLLDTAQAAAAGHR
                     LLAEQEVLAPQVVLAPGGGAAYNLGAPPRTQFSGLRRDLPPSVHLLTLASWGPEMVLL
                     RLEHQFAVGEDSGRNLSAPVTLNLRDLFSTFTITRLQETTLVANQLREAASRLKWTTN
                     TGPTPHQTPYQLDPANITLEPMEIRTFLASVQWKEVDG"
     misc_feature    460..2220
                     /gene="MAN2B1"
                     /note="Region: pfam01074, Glyco_hydro_38, Glycosyl
                     hydrolases family 38. Glycosyl hydrolases are key enzymes
                     of carbohydrate metabolism"
     variation       1138
                     /gene="MAN2B1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1054486"
     variation       1241
                     /gene="MAN2B1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1054487"
     variation       1316
                     /gene="MAN2B1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3195023"
BASE COUNT      681 a   1087 c   1015 g    660 t
ORIGIN      
        1 ggaaaagcac ttctgctcta ccggcattaa gaggcattcc gtcttggaat tccggcatta
       61 agaggcattc cgtcttcata gcccgtgaga cgccagtgtc acctttagcc caaccagtgc
      121 cctgagggtg gcattttcct accttcctgt aacgaccccc gggattgccc agggctacag
      181 cctctctccc gtgagcctcc agaccgcccc tggccccgcc ccccaccccg ataggcccgg
      241 ccgggtctgg gggcggggcg tttgcggcct ttccagggcc ggggaacccc aggaggaagc
      301 tgctgagcca tgggctacgc gcgggcttcg ggggtctgcg ctcgcggctg cctggactca
      361 gcaggcccct ggaccatgtc ccgcgccctg cggccaccgc tcccgcctct ctgctttttc
      421 cttttgttgc tggcggctgc cggtgctcgg gccgggggat acgagacatg ccccacagtg
      481 cagccgaaca tgctgaacgt gcacctgctg cctcacacac atgatgacgt gggctggctc
      541 aaaaccgtgg accagtactt ttatggaatc aagaatgaca tccagcacgc cggtgtgcag
      601 tacatcctgg actcggtcat ctctgccttg ctggcagatc ccacccgtcg cttcatttac
      661 gtggagattg ccttcttctc ccgttggtgg caccagcaga caaatgccac acaggaagtc
      721 gtgcgagacc ttgtgcgcca ggggcgcctg gagttcgcca atggtggctg ggtgatgaac
      781 gatgaggcag ccacccacta cggtgccatc gtggaccaga tgacacttgg gctgcgcttt
      841 ctggaggaca catttggcaa tgatgggcga ccccgtgtgg cctggcacat tgaccccttc
      901 ggccactctc gggagcaggc ctcgctgttt gcgcagatgg gcttcgacgg cttcttcttt
      961 gggcgccttg attatcaaga taagtgggta cggatgcaga agctggagat ggagcaggtg
     1021 tggcgggcca gcaccagcct gaagcccccg accgcggacc tcttcactgg tgtgcttccc
     1081 aatggttaca acccgccaag gaatctgtgc tgggatgtgc tgtgtgtcga tcagccgctg
     1141 gtggaggacc ctcgcagccc cgagtacaac gccaaggagc tggtcgatta cttcctaaat
     1201 gtggccactg cccagggccg gtattaccgc accaaccaca ctgtgatgac catgggctcg
     1261 gacttccaat atgagaatgc caacatgtgg ttcaagaacc ttgacaagct catccggctg
     1321 gtaaatgcgc agcaggcaaa aggaagcagt gtccatgttc tctactccac ccccgcttgt
     1381 tacctctggg agctgaacaa ggccaacctc acctggtcag tgaaacatga cgacttcttc
     1441 ccttacgcgg atggccccca ccagttctgg accggttact tttccagtcg gccggccctc
     1501 aaacgctacg agcgcctcag ctacaacttc ctgcaggtgt gcaaccagct ggaggcgctg
     1561 gtgggcctgg cggccaacgt gggaccctat ggctccggag acagtgcacc cctcaatgag
     1621 gcgatggctg tgctccagca tcacgacgcc gtcagcggca cctcccgcca gcacgtggcc
     1681 aacgactacg cgcgccagct tgcggcaggc tgggggcctt gcgaggttct tctgagcaac
     1741 gcgctggcgc ggctcagagg cttcaaagat cacttcacct tttgccaaca gctaaacatc
     1801 agcatctgcc cgctcagcca gacggcggcg cgcttccagg tcatcgttta taatcccctg
     1861 gggcggaagg tgaattggat ggtacggctg ccggtcagcg aaggcgtttt cgttgtgaag
     1921 gaccccaatg gcaggacagt gcccagcgat gtggtaatat ttcccagctc agacagccag
     1981 gcgcaccctc cggagctgct gttctcagcc tcactgcccg ccctgggctt cagcacctat
     2041 tcagtagccc aggtgcctcg ctggaagccc caggcccgcg caccacagcc catccccaga
     2101 agatcctggt cccctgcttt aaccatcgaa aatgagcaca tccgggcaac gtttgatcct
     2161 gacacagggc tgttgatgga gattatgaac atgaatcagc aactcctgct gcctgttcgc
     2221 cagaccttct tctggtacaa cgccagtata ggtgacaacg aaagtgacca ggcctcaggt
     2281 gcctacatct tcagacccaa ccaacagaaa ccgctgcctg tgagccgctg ggctcagatc
     2341 cacctggtga agacaccctt ggtgcaggag gtgcaccaga acttctcagc ttggtgttcc
     2401 caggtggttc gcctgtaccc aggacagcgg cacctggagc tagagtggtc ggtggggccg
     2461 atacctgtgg gcgacacctg ggggaaggag gtcatcagcc gttttgacac accgctggag
     2521 acaaagggac gcttctacac agacagcaat ggccgggaga tcctggagag gaggcgggat
     2581 tatcgaccca cctggaaact gaaccagacg gagcccgtgg caggaaacta ctatccagtc
     2641 aacacccgga tttacatcac ggatggaaac atgcagctga ctgtgctgac tgaccgctcc
     2701 caggggggca gcagcctgag agatggctcg ctggagctca tggtgcaccg aaggctgctg
     2761 aaggacgatg gacgcggagt atcggagcca ctaatggaga acgggtcggg ggcgtgggtg
     2821 cgagggcgcc acctggtgct gctggacaca gcccaggctg cagccgccgg acaccggctc
     2881 ctggcggagc aggaggtcct ggcccctcag gtggtgctgg ccccgggtgg cggcgccgcc
     2941 tacaatctcg gggctcctcc gcgcacgcag ttctcagggc tgcgcaggga cctgccgccc
     3001 tcggtgcacc tgctcacgct ggccagctgg ggccccgaaa tggtgctgct gcgcttggag
     3061 caccagtttg ccgtaggaga ggattccgga cgtaacctga gcgcccccgt taccttgaac
     3121 ttgagggacc tgttctccac cttcaccatc acccgcctgc aggagaccac gctggtggcc
     3181 aaccagctcc gcgaggcagc ctccaggctc aagtggacaa caaacacagg ccccacaccc
     3241 caccaaactc cgtaccagct ggacccggcc aacatcacgc tggaacccat ggaaatccgc
     3301 actttcctgg cctcagttca atggaaggag gtggatggtt aggtctgctg ggatgggccc
     3361 tccaagccca agcctcctgc tccgggggca gaccagactc tgactctcct cttggggctg
     3421 ctgcattaaa acgtactact aag
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

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Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_002838. Homo sapiens prot...[gi:18641346] Links  


LOCUS       PTPRC                   5026 bp    mRNA    linear   PRI 08-FEB-2002
DEFINITION  Homo sapiens protein tyrosine phosphatase, receptor type, C
            (PTPRC), transcript variant 1, mRNA.
ACCESSION   NM_002838
VERSION     NM_002838.2  GI:18641346
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5026)
  AUTHORS   Ralph,S.J., Thomas,M.L., Morton,C.C. and Trowbridge,I.S.
  TITLE     Structural variants of human T200 glycoprotein (leukocyte-common
            antigen)
  JOURNAL   EMBO J. 6 (5), 1251-1257 (1987)
  MEDLINE   87275816
   PUBMED   2956090
REFERENCE   2  (bases 1 to 5026)
  AUTHORS   Streuli,M., Hall,L.R., Saga,Y., Schlossman,S.F. and Saito,H.
  TITLE     Differential usage of three exons generates at least five different
            mRNAs encoding human leukocyte common antigens
  JOURNAL   J. Exp. Med. 166 (5), 1548-1566 (1987)
  MEDLINE   88061067
   PUBMED   2824653
REFERENCE   3  (bases 1 to 5026)
  AUTHORS   Charbonneau,H., Tonks,N.K., Walsh,K.A. and Fischer,E.H.
  TITLE     The leukocyte common antigen (CD45): a putative receptor-linked
            protein tyrosine phosphatase
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 85 (19), 7182-7186 (1988)
  MEDLINE   89017162
   PUBMED   2845400
REFERENCE   4  (bases 1 to 5026)
  AUTHORS   Pingel,J.T. and Thomas,M.L.
  TITLE     Evidence that the leukocyte-common antigen is required for
            antigen-induced T lymphocyte proliferation
  JOURNAL   Cell 58 (6), 1055-1065 (1989)
  MEDLINE   89376557
   PUBMED   2550143
REFERENCE   5  (bases 1 to 5026)
  AUTHORS   Schraven,B., Samstag,Y., Altevogt,P. and Meuer,S.C.
  TITLE     Association of CD2 and CD45 on human T lymphocytes
  JOURNAL   Nature 345 (6270), 71-74 (1990)
  MEDLINE   90231464
   PUBMED   1970422
REFERENCE   6  (bases 1 to 5026)
  AUTHORS   Kaplan,R., Morse,B., Huebner,K., Croce,C., Howk,R., Ravera,M.,
            Ricca,G., Jaye,M. and Schlessinger,J.
  TITLE     Cloning of three human tyrosine phosphatases reveals a multigene
            family of receptor-linked protein-tyrosine-phosphatases expressed
            in brain
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 87 (18), 7000-7004 (1990)
  MEDLINE   90384936
   PUBMED   2169617
REFERENCE   7  (bases 1 to 5026)
  AUTHORS   Petricoin,E.F. III, Ito,S., Williams,B.L., Audet,S., Stancato,L.F.,
            Gamero,A., Clouse,K., Grimley,P., Weiss,A., Beeler,J.,
            Finbloom,D.S., Shores,E.W., Abraham,R. and Larner,A.C.
  TITLE     Antiproliferative action of interferon-alpha requires components of
            T-cell-receptor signalling
  JOURNAL   Nature 390 (6660), 629-632 (1997)
  MEDLINE   98065953
   PUBMED   9403695
REFERENCE   8  (bases 1 to 5026)
  AUTHORS   Goff,L.K., van Soest,S., Timon,M., Tchilian,E. and Beverley,P.C.
  TITLE     Protein tyrosine phosphatase receptor type C polypeptide (PTPRC) on
            human chromosome band 1q31-->q32 localizes with marker D1S413(1) on
            a 610-kb yeast artificial chromosome
  JOURNAL   Cytogenet. Cell Genet. 87 (3-4), 223-224 (1999)
  MEDLINE   20169194
   PUBMED   10702677
REFERENCE   9  (bases 1 to 5026)
  AUTHORS   Irie-Sasaki,J., Sasaki,T., Matsumoto,W., Opavsky,A., Cheng,M.,
            Welstead,G., Griffiths,E., Krawczyk,C., Richardson,C.D., Aitken,K.,
            Iscove,N., Koretzky,G., Johnson,P., Liu,P., Rothstein,D.M. and
            Penninger,J.M.
  TITLE     CD45 is a JAK phosphatase and negatively regulates cytokine
            receptor signalling
  JOURNAL   Nature 409 (6818), 349-354 (2001)
  MEDLINE   21069057
   PUBMED   11201744
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Y00638.1 and Y00062.1.
            On Feb 8, 2002 this sequence version replaced gi:4506306.
            Summary: The protein encoded by this gene is a member of the
            protein tyrosine phosphatase (PTP) family. PTPs are known to be
            signaling molecules that regulate a variety of cellular processes
            including cell growth, differentiation, mitotic cycle, and
            oncogenic transformation. This PTP contains an extracellular
            domain, a single transmembrane segment and two tandem
            intracytoplasmic catalytic domains, and thus belongs to receptor
            type PTP. This gene is specifically expressed in hematopoietic
            cells. This PTP has been shown to be an essential regulator of T-
            and B-cell antigen receptor signaling. It functions through either
            direct interaction with components of the antigen receptor
            complexes, or by activating various Src family kinases required for
            the antigen receptor signaling. This PTP also suppresses JAK
            kinases, and thus functions as a regulator of cytokine receptor
            signaling. Four alternatively spliced transcripts variants of this
            gene, which encode distinct isoforms, have been reported.
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5026
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q31-q32"
     gene            1..5026
                     /gene="PTPRC"
                     /note="CD45; LCA; T200; GP180; LY5"
                     /db_xref="LocusID:5788"
                     /db_xref="MIM:151460"
     CDS             93..4007
                     /gene="PTPRC"
                     /EC_number="3.1.3.48"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein tyrosine phosphatase, receptor type, c
                     polypeptide; leukocyte-common antigen; T200 glycoprotein;
                     human homolog of severe combined immunodeficiency due to
                     PTPRC deficiency; SCID due to PTPRC deficiency; CD45
                     antigen"
                     /codon_start=1
                     /product="protein tyrosine phosphatase, receptor type, C,
                     isoform 1 precursor"
                     /protein_id="NP_002829.2"
                     /db_xref="GI:18641347"
                     /db_xref="MIM:151460"
                     /db_xref="LocusID:5788"
                     /translation="MYLWLKLLAFGFAFLDTEVFVTGQSPTPSPTGLTTAKMPSVPLS
                     SDPLPTHTTAFSPASTFERENDFSETTTSLSPDNTSTQVSPDSLDNASAFNTTGVSSV
                     QTPHLPTHADSQTPSAGTDTQTFSGSAANAKLNPTPGSNAISDVPGERSTASTFPTDP
                     VSPLTTTLSLAHHSSAALPARTSNTTITANTSDAYLNASETTTLSPSGSAVISTTTIA
                     TTPSKPTCDEKYANITVDYLYNKETKLFTAKLNVNENVECGNNTCTNNEVHNLTECKN
                     ASVSISHNSCTAPDKTLILDVPPGVEKFQLHDCTQVEKADTTICLKWKNIETFTCDTQ
                     NITYRFQCGNMIFDNKEIKLENLEPEHEYKCDSEILYNNHKFTNASKIIKTDFGSPGE
                     PQIIFCRSEAAHQGVITWNPPQRSFHNFTLCYIKETEKDCLNLDKNLIKYDLQNLKPY
                     TKYVLSLHAYIIAKVQRNGSAAMCHFTTKSAPPSQVWNMTVSMTSDNSMHVKCRPPRD
                     RNGPHERYHLEVEAGNTLVRNESHKNCDFRVKDLQYSTDYTFKAYFHNGDYPGEPFIL
                     HHSTSYNSKALIAFLAFLIIVTSIALLVVLYKIYDLHKKRSCNLDEQQELVERDDEKQ
                     LMNVEPIHADILLETYKRKIADEGRLFLAEFQSIPRVFSKFPIKEARKPFNQNKNRYV
                     DILPYDYNRVELSEINGDAGSNYINASYIDGFKEPRKYIAAQGPRDETVDDFWRMIWE
                     QKATVIVMVTRCEEGNRNKCAEYWPSMEEGTRAFGDVVVKINQHKRCPDYIIQKLNIV
                     NKKEKATGREVTHIQFTSWPDHGVPEDPHLLLKLRRRVNAFSNFFSGPIVVHCSAGVG
                     RTGTYIGIDAMLEGLEAENKVDVYGYVVKLRRQRCLMVQVEAQYILIHQALVEYNQFG
                     ETEVNLSELHPYLHNMKKRDPPSEPSPLEAEFQRLPSYRSWRTQHIGNQEENKSKNRN
                     SNVIPYDYNRVPLKHELEMSKESEHDSDESSDDDSDSEEPSKYINASFIMSYWKPEVM
                     IAAQGPLKETIGDFWQMIFQRKVKVIVMLTELKHGDQEICAQYWGEGKQTYGDIEVDL
                     KDTDKSSTYTLRVFELRHSKRKDSRTVYQYQYTNWSVEQLPAEPKELISMIQVVKQKL
                     PQKNSSEGNKHHKSTPLLIHCRDGSQQTGIFCALLNLLESAETEEVVDIFQVVKALRK
                     ARPGMVSTFEQYQFLYDVIASTYPAQNGQVKKNNHQEDKIEFDNEVDKVKQDANCVNP
                     LGAPEKLPEAKEQAEGSEPTSGTEGPEHSVNGPASPALNQGS"
     sig_peptide     93..161
                     /gene="PTPRC"
     mat_peptide     162..4004
                     /gene="PTPRC"
                     /product="protein tyrosine phosphatase, receptor type, C"
     misc_feature    1260..1472
                     /gene="PTPRC"
                     /note="FN3; Region: Fibronectin type 3 domain"
                     /db_xref="CDD:smart00060"
     misc_feature    1260..1472
                     /gene="PTPRC"
                     /note="fn3; Region: Fibronectin type III domain"
                     /db_xref="CDD:pfam00041"
     misc_feature    1539..1781
                     /gene="PTPRC"
                     /note="fn3; Region: Fibronectin type III domain"
                     /db_xref="CDD:pfam00041"
     misc_feature    1539..1766
                     /gene="PTPRC"
                     /note="FN3; Region: Fibronectin type 3 domain"
                     /db_xref="CDD:smart00060"
     misc_feature    2043..2822
                     /gene="PTPRC"
                     /note="PTPc; Region: Protein tyrosine phosphatase,
                     catalytic domain"
                     /db_xref="CDD:smart00194"
     misc_feature    2115..2819
                     /gene="PTPRC"
                     /note="Y_phosphatase; Region: Protein-tyrosine
                     phosphatase"
                     /db_xref="CDD:pfam00102"
     misc_feature    2514..2819
                     /gene="PTPRC"
                     /note="PTPc_motif; Region: Protein tyrosine phosphatase,
                     catalytic domain motif"
                     /db_xref="CDD:smart00404"
     misc_feature    2916..3764
                     /gene="PTPRC"
                     /note="PTPc; Region: Protein tyrosine phosphatase,
                     catalytic domain"
                     /db_xref="CDD:smart00194"
     misc_feature    2988..3764
                     /gene="PTPRC"
                     /note="Y_phosphatase; Region: Protein-tyrosine
                     phosphatase"
                     /db_xref="CDD:pfam00102"
     misc_feature    3432..3767
                     /gene="PTPRC"
                     /note="PTPc_motif; Region: Protein tyrosine phosphatase,
                     catalytic domain motif"
                     /db_xref="CDD:smart00404"
     misc_feature    162..1817
                     /gene="PTPRC"
                     /note="extracellular domain"
     variation       972
                     /gene="PTPRC"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:2230606"
     variation       1071
                     /gene="PTPRC"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2274367"
     variation       1796
                     /gene="PTPRC"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:2230947"
     misc_feature    1818..1883
                     /gene="PTPRC"
                     /note="transmembrane domain"
     misc_feature    1884..4004
                     /gene="PTPRC"
                     /note="cytoplasmic domain"
     variation       3022
                     /gene="PTPRC"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3208670"
     variation       3866
                     /gene="PTPRC"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1058191"
     variation       3939
                     /gene="PTPRC"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:2298872"
     polyA_signal    5003..5008
                     /gene="PTPRC"
BASE COUNT     1670 a    970 c    980 g   1406 t
ORIGIN      
        1 agaggaggaa attgttcctc gtctgataag acaacagtgg agaaaggacg catgctgttt
       61 cttagggaca cggctgactt ccagatatga ccatgtattt gtggcttaaa ctcttggcat
      121 ttggctttgc ctttctggac acagaagtat ttgtgacagg gcaaagccca acaccttccc
      181 ccactggatt gactacagca aagatgccca gtgttccact ttcaagtgac cccttaccta
      241 ctcacaccac tgcattctca cccgcaagca cctttgaaag agaaaatgac ttctcagaga
      301 ccacaacttc tcttagtcca gacaatactt ccacccaagt atccccggac tctttggata
      361 atgctagtgc ttttaatacc acaggtgttt catcagtaca gacgcctcac cttcccacgc
      421 acgcagactc gcagacgccc tctgctggaa ctgacacgca gacattcagc ggctccgccg
      481 ccaatgcaaa actcaaccct accccaggca gcaatgctat ctcagatgtc ccaggagaga
      541 ggagtacagc cagcaccttt cctacagacc cagtttcccc attgacaacc accctcagcc
      601 ttgcacacca cagctctgct gccttacctg cacgcacctc caacaccacc atcacagcga
      661 acacctcaga tgcctacctt aatgcctctg aaacaaccac tctgagccct tctggaagcg
      721 ctgtcatttc aaccacaaca atagctacta ctccatctaa gccaacatgt gatgaaaaat
      781 atgcaaacat cactgtggat tacttatata acaaggaaac taaattattt acagcaaagc
      841 taaatgttaa tgagaatgtg gaatgtggaa acaatacttg cacaaacaat gaggtgcata
      901 accttacaga atgtaaaaat gcgtctgttt ccatatctca taattcatgt actgctcctg
      961 ataagacatt aatattagat gtgccaccag gggttgaaaa gtttcagtta catgattgta
     1021 cacaagttga aaaagcagat actactattt gtttaaaatg gaaaaatatt gaaaccttta
     1081 cttgtgatac acagaatatt acctacagat ttcagtgtgg taatatgata tttgataata
     1141 aagaaattaa attagaaaac cttgaacccg aacatgagta taagtgtgac tcagaaatac
     1201 tctataataa ccacaagttt actaacgcaa gtaaaattat taaaacagat tttgggagtc
     1261 caggagagcc tcagattatt ttttgtagaa gtgaagctgc acatcaagga gtaattacct
     1321 ggaatccccc tcaaagatca tttcataatt ttaccctctg ttatataaaa gagacagaaa
     1381 aagattgcct caatctggat aaaaacctga tcaaatatga tttgcaaaat ttaaaacctt
     1441 atacgaaata tgttttatca ttacatgcct acatcattgc aaaagtgcaa cgtaatggaa
     1501 gtgctgcaat gtgtcatttc acaactaaaa gtgctcctcc aagccaggtc tggaacatga
     1561 ctgtctccat gacatcagat aatagtatgc atgtcaagtg taggcctccc agggaccgta
     1621 atggccccca tgaacgttac catttggaag ttgaagctgg aaatactctg gttagaaatg
     1681 agtcgcataa gaattgcgat ttccgtgtaa aagatcttca atattcaaca gactacactt
     1741 ttaaggccta ttttcacaat ggagactatc ctggagaacc ctttatttta catcattcaa
     1801 catcttataa ttctaaggca ctgatagcat ttctggcatt tctgattatt gtgacatcaa
     1861 tagccctgct tgttgttctc tacaaaatct atgatctaca taagaaaaga tcctgcaatt
     1921 tagatgaaca gcaggagctt gttgaaaggg atgatgaaaa acaactgatg aatgtggagc
     1981 caatccatgc agatattttg ttggaaactt ataagaggaa gattgctgat gaaggaagac
     2041 tttttctggc tgaatttcag agcatcccgc gggtgttcag caagtttcct ataaaggaag
     2101 ctcgaaagcc ctttaaccag aataaaaacc gttatgttga cattcttcct tatgattata
     2161 accgtgttga actctctgag ataaacggag atgcagggtc aaactacata aatgccagct
     2221 atattgatgg tttcaaagaa cccaggaaat acattgctgc acaaggtccc agggatgaaa
     2281 ctgttgatga tttctggagg atgatttggg aacagaaagc cacagttatt gtcatggtca
     2341 ctcgatgtga agaaggaaac aggaacaagt gtgcagaata ctggccgtca atggaagagg
     2401 gcactcgggc ttttggagat gttgttgtaa agatcaacca gcacaaaaga tgtccagatt
     2461 acatcattca gaaattgaac attgtaaata aaaaagaaaa agcaactgga agagaggtga
     2521 ctcacattca gttcaccagc tggccagacc acggggtgcc tgaggatcct cacttgctcc
     2581 tcaaactgag aaggagagtg aatgccttca gcaatttctt cagtggtccc attgtggtgc
     2641 actgcagtgc tggtgttggg cgcacaggaa cctatatcgg aattgatgcc atgctagaag
     2701 gcctggaagc cgagaacaaa gtggatgttt atggttatgt tgtcaagcta aggcgacaga
     2761 gatgcctgat ggttcaagta gaggcccagt acatcttgat ccatcaggct ttggtggaat
     2821 acaatcagtt tggagaaaca gaagtgaatt tgtctgaatt acatccatat ctacataaca
     2881 tgaagaaaag ggatccaccc agtgagccgt ctccactaga ggctgaattc cagagacttc
     2941 cttcatatag gagctggagg acacagcaca ttggaaatca agaagaaaat aaaagtaaaa
     3001 acaggaattc taatgtcatc ccatatgact ataacagagt gccacttaaa catgagctgg
     3061 aaatgagtaa agagagtgag catgattcag atgaatcctc tgatgatgac agtgattcag
     3121 aggaaccaag caaatacatc aatgcatctt ttataatgag ctactggaaa cctgaagtga
     3181 tgattgctgc tcagggacca ctgaaggaga ccattggtga cttttggcag atgatcttcc
     3241 aaagaaaagt caaagttatt gttatgctga cagaactgaa acatggagac caggaaatct
     3301 gtgctcagta ctggggagaa ggaaagcaaa catatggaga tattgaagtt gacctgaaag
     3361 acacagacaa atcttcaact tatacccttc gtgtctttga actgagacat tccaagagga
     3421 aagactctcg aactgtgtac cagtaccaat atacaaactg gagtgtggag cagcttcctg
     3481 cagaacccaa ggaattaatc tctatgattc aggtcgtcaa acaaaaactt ccccagaaga
     3541 attcctctga agggaacaag catcacaaga gtacacctct actcattcac tgcagggatg
     3601 gatctcagca aacgggaata ttttgtgctt tgttaaatct cttagaaagt gcggaaacag
     3661 aagaggtagt ggatattttt caagtggtaa aagctctacg caaagctagg ccaggcatgg
     3721 tttccacatt cgagcaatat caattcctat atgacgtcat tgccagcacc taccctgctc
     3781 agaatggaca agtaaagaaa aacaaccatc aagaagataa aattgaattt gataatgaag
     3841 tggacaaagt aaagcaggat gctaattgtg ttaatccact tggtgcccca gaaaagctcc
     3901 ctgaagcaaa ggaacaggct gaaggttctg aacccacgag tggcactgag gggccagaac
     3961 attctgtcaa tggtcctgca agtccagctt taaatcaagg ttcataggaa aagacataaa
     4021 tgaggaaact ccaaacctcc tgttagctgt tatttctatt tttgtagaag taggaagtga
     4081 aaataggtat acagtggatt aattaaatgc agcgaaccaa tatttgtaga agggttatat
     4141 tttactactg tggaaaaata tttaagatag ttttgccaga acagtttgta cagacgtatg
     4201 cttattttaa aattttatct cttattcagt aaaaaacaac ttctttgtaa tcgttatgtg
     4261 tgtatatgta tgtgtgtatg ggtgtgtgtt tgtgtgagag acagagaaag agagagaatt
     4321 ctttcaagtg aatctaaaag cttttgcttt tcctttgttt ttatgaagaa aaaatacatt
     4381 ttatattaga agtgttaact tagcttgaag gatctgtttt taaaaatcat aaactgtgtg
     4441 cagactcaat aaaatcatgt acatttctga aatgacctca agatgtcctc cttgttctac
     4501 tcatatatat ctatcttata tacttactat tttacttcta gagatagtac ataaaggtgg
     4561 tatgtgtgtg tatgctacta caaaaaagtt gttaactaaa ttaacattgg gaaatcttat
     4621 attccatata ttagcattta gtccaatgtc tttttaagct tatttaatta aaaaatttcc
     4681 agtgagctta tcatgctgtc tttacatggg gttttcaatt ttgcatgctc gattattccc
     4741 tgtacaatat ttaaaattta ttgcttgata cttttgacaa caaattaggt tttgtacaat
     4801 tgaacttaaa taaatgtcat taaaataaat aaatgcaata tgtattaata ttcattgtat
     4861 aaaaatagaa gaatacaaac atatttgtta aatatttaca tatgaaattt aatatagcta
     4921 tttttatgga atttttcatt gatatgaaaa atatgatatt gcatatgcat agttcccatg
     4981 ttaaatccca ttcataactt tcattaaagc atttactttg aatttc
//



Revised: July 5, 2002.
 
 


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1: NM_001166. Homo sapiens bacu...[gi:10880127] Links  


LOCUS       BIRC2                   3496 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens baculoviral IAP repeat-containing 2 (BIRC2), mRNA.
ACCESSION   NM_001166
VERSION     NM_001166.2  GI:10880127
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3496)
  AUTHORS   Rothe,M., Pan,M.G., Henzel,W.J., Ayres,T.M. and Goeddel,D.V.
  TITLE     The TNFR2-TRAF signaling complex contains two novel proteins
            related to baculoviral inhibitor of apoptosis proteins
  JOURNAL   Cell 83 (7), 1243-1252 (1995)
  MEDLINE   96128127
   PUBMED   8548810
REFERENCE   2  (bases 1 to 3496)
  AUTHORS   Liston P, Roy N, Tamai K, Lefebvre C, Baird S, Cherton-Horvat G,
            Farahani R, McLean M, Ikeda JE, MacKenzie A and Korneluk RG.
  TITLE     Suppression of apoptosis in mammalian cells by NAIP and a related
            family of IAP genes
  JOURNAL   Nature 379 (6563), 349-353 (1996)
  MEDLINE   96149249
   PUBMED   8552191
REFERENCE   3  (bases 1 to 3496)
  AUTHORS   Uren,A.G., Pakusch,M., Hawkins,C.J., Puls,K.L. and Vaux,D.L.
  TITLE     Cloning and expression of apoptosis inhibitory protein homologs
            that function to inhibit apoptosis and/or bind tumor necrosis
            factor receptor-associated factors
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 93 (10), 4974-4978 (1996)
  MEDLINE   96209843
   PUBMED   8643514
REFERENCE   4  (bases 1 to 3496)
  AUTHORS   Rajcan-Separovic,E., Liston,P., Lefebvre,C. and Korneluk,R.G.
  TITLE     Assignment of human inhibitor of apoptosis protein (IAP) genes
            xiap, hiap-1, and hiap-2 to chromosomes Xq25 and 11q22-q23 by
            fluorescence in situ hybridization
  JOURNAL   Genomics 37 (3), 404-406 (1996)
  MEDLINE   97092895
   PUBMED   8938457
REFERENCE   5  (bases 1 to 3496)
  AUTHORS   Young,S.S., Liston,P., Xuan,J.Y., McRoberts,C., Lefebvre,C.A. and
            Korneluk,R.G.
  TITLE     Genomic organization and physical map of the human inhibitors of
            apoptosis: HIAP1 and HIAP2
  JOURNAL   Mamm. Genome 10 (1), 44-48 (1999)
  MEDLINE   99111393
   PUBMED   9892732
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from L49431.1 and U37547.1.
            On Oct 18, 2000 this sequence version replaced gi:4502140.
            Summary: The protein encoded by this gene is a member of a family
            of proteins that inhibits apoptosis by binding to tumor necrosis
            factor receptor-associated factors TRAF1 and TRAF2, probably by
            interfering with activation of ICE-like proteases. BIRC2 inhibits
            apoptosis induced by serum deprivation and menadione, a potent
            inducer of free radicals. The amino acid sequence predicts three
            baculovirus IAP repeat domains and a ring finger domain.
FEATURES             Location/Qualifiers
     source          1..3496
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22"
     gene            1..3496
                     /gene="BIRC2"
                     /note="MIHB; API1; HIAP2; CIAP1"
                     /db_xref="LocusID:329"
                     /db_xref="MIM:601712"
     variation       983
                     /gene="BIRC2"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1049460"
     variation       1145
                     /gene="BIRC2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1049461"
     CDS             1160..3016
                     /gene="BIRC2"
                     /note="hiap-2; apoptosis inhibitor 1; NFR2-TRAF signalling
                     complex protein"
                     /codon_start=1
                     /product="baculoviral IAP repeat-containing protein 2"
                     /protein_id="NP_001157.1"
                     /db_xref="GI:4502141"
                     /db_xref="LocusID:329"
                     /db_xref="MIM:601712"
                     /translation="MHKTASQRLFPGPSYQNIKSIMEDSTILSDWTNSNKQKMKYDFS
                     CELYRMSTYSTFPAGVPVSERSLARAGFYYTGVNDKVKCFCCGLMLDNWKLGDSPIQK
                     HKQLYPSCSFIQNLVSASLGSTSKNTSPMRNSFAHSLSPTLEHSSLFSGSYSSLSPNP
                     LNSRAVEDISSSRTNPYSYAMSTEEARFLTYHMWPLTFLSPSELARAGFYYIGPGDRV
                     ACFACGGKLSNWEPKDDAMSEHRRHFPNCPFLENSLETLRFSISNLSMQTHAARMRTF
                     MYWPSSVPVQPEQLASAGFYYVGRNDDVKCFCCDGGLRCWESGDDPWVEHAKWFPRCE
                     FLIRMKGQEFVDEIQGRYPHLLEQLLSTSDTTGEENADPPIIHFGPGESSSEDAVMMN
                     TPVVKSALEMGFNRDLVKQTVQSKILTTGENYKTVNDIVSALLNAEDEKREEEKEKQA
                     EEMASDDLSLIRKNRMALFQQLTCVLPILDNLLKANVINKQEHDIIKQKTQIPLQARE
                     LIDTILVKGNAAANIFKNCLKEIDSTLYKNLFVDKNMKYIPTEDVSGLSLEEQLRRLQ
                     EERTCKVCMDKEVSVVFIPCGHLVVCQECAPSLRKCPICRGIIKGTVRTFLS"
     misc_feature    1289..1504
                     /gene="BIRC2"
                     /note="BIR; Region: Baculoviral inhibition of apoptosis
                     protein repeat"
                     /db_xref="CDD:BIR"
     misc_feature    1304..1501
                     /gene="BIRC2"
                     /note="BIR; Region: Inhibitor of Apoptosis domain"
                     /db_xref="CDD:pfam00653"
     misc_feature    1304..1498
                     /gene="BIRC2"
                     /note="BIR; Region: Zn binding domain involved in protein
                     protein interactions in caspase inhibition and spindle
                     assembly"
                     /db_xref="CDD:LOAD:bir"
     misc_feature    1703..1915
                     /gene="BIRC2"
                     /note="BIR; Region: Baculoviral inhibition of apoptosis
                     protein repeat"
                     /db_xref="CDD:BIR"
     misc_feature    1718..1909
                     /gene="BIRC2"
                     /note="BIR; Region: Inhibitor of Apoptosis domain"
                     /db_xref="CDD:pfam00653"
     misc_feature    1718..1909
                     /gene="BIRC2"
                     /note="BIR; Region: Zn binding domain involved in protein
                     protein interactions in caspase inhibition and spindle
                     assembly"
                     /db_xref="CDD:LOAD:bir"
     misc_feature    1958..2167
                     /gene="BIRC2"
                     /note="BIR; Region: Baculoviral inhibition of apoptosis
                     protein repeat"
                     /db_xref="CDD:BIR"
     misc_feature    1973..2167
                     /gene="BIRC2"
                     /note="BIR; Region: Inhibitor of Apoptosis domain"
                     /db_xref="CDD:pfam00653"
     misc_feature    1973..2167
                     /gene="BIRC2"
                     /note="BIR; Region: Zn binding domain involved in protein
                     protein interactions in caspase inhibition and spindle
                     assembly"
                     /db_xref="CDD:LOAD:bir"
     misc_feature    2522..2788
                     /gene="BIRC2"
                     /note="CARD; Region: Caspase recruitment domain"
                     /db_xref="CDD:pfam00619"
     misc_feature    2522..2782
                     /gene="BIRC2"
                     /note="CARD; Region: Caspase recruitment domain"
                     /db_xref="CDD:CARD"
     variation       3067
                     /gene="BIRC2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1801301"
     variation       3382
                     /gene="BIRC2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1802868"
BASE COUNT     1117 a    552 c    706 g   1121 t
ORIGIN      
        1 gaattctatg gagtgtaatt ttgtgtatga attatatttt taaaacattg aagagttttc
       61 agaaagaagg ctagtagagt tgattactga tactttatgc taagcagtac ttttttggta
      121 gtacaatatt ttgttaggcg tttctgataa cactagaaag gacaagtttt atcttgtgat
      181 aaattgatta atgtttacaa catgactgat aattatagct gaatagtcct taaatgatga
      241 acaggttatt tagtttttaa atgcagtgta aaaagtgtgc tgtggaaatt ttatggctaa
      301 ctaagtttat ggagaaaata ccttcagttg atcaagaata atagtggtat acaaagttag
      361 gaagaaagtc aacatgatgc tgcaggaaat ggaaacaaat acaaatgata tttaacaaag
      421 atagagttta cagtttttga actttaagcc aaattcattt gacatcaagc actatagcag
      481 gcacaggttc aacaaagctt gtgggtattg acttccccca aaagttgtca gctgaagtaa
      541 tttagcccac ttaagtaaat actatgatga taagctgtgt gaacttagct tttaaatagt
      601 gtgaccatat gaaggtttta attacttttg tttattggaa taaaatgaga ttttttgggt
      661 tgtcatgtta aagtgcttat agggaaagaa gcctgcatat aattttttac cttgtggcat
      721 aatcagtaat tggtctgtta ttcaggcttc atagcttgta accaaatata aataaaaggc
      781 ataatttagg tattctatag ttgcttagaa ttttgttaat ataaatctct gtgaaaaatc
      841 aaggagtttt aatattttca gaagtgcatc cacctttcag ggctttaagt tagtattact
      901 caagattatg aacaaatagc acttaggtta cctgaaagag ttactacaac cccaaagagt
      961 tgtgttctaa gtagtatctt ggaaattcag agagatactc atcctacctg aatataaact
     1021 gagataaatc cagtaaagaa agtgtagtaa attctacata agagtctatc attgatttct
     1081 tttggtggta aaaatcttag ttcatgtgaa gaaatttcat gtgaatgttt tagctatcaa
     1141 acagcactgt cacctactca tgcacaaaac tgcctcccaa agacttttcc caggtccctc
     1201 gtatcaaaac attaagagta taatggaaga tagcacgatc ttgtcagatt ggacaaacag
     1261 caacaaacaa aaaatgaagt atgacttttc ctgtgaactc tacagaatgt ctacatattc
     1321 aactttcccc gccggggtgc ctgtctcaga aaggagtctt gctcgtgctg gtttttatta
     1381 tactggtgtg aatgacaagg tcaaatgctt ctgttgtggc ctgatgctgg ataactggaa
     1441 actaggagac agtcctattc aaaagcataa acagctatat cctagctgta gctttattca
     1501 gaatctggtt tcagctagtc tgggatccac ctctaagaat acgtctccaa tgagaaacag
     1561 ttttgcacat tcattatctc ccaccttgga acatagtagc ttgttcagtg gttcttactc
     1621 cagcctttct ccaaaccctc ttaattctag agcagttgaa gacatctctt catcgaggac
     1681 taacccctac agttatgcaa tgagtactga agaagccaga tttcttacct accatatgtg
     1741 gccattaact tttttgtcac catcagaatt ggcaagagct ggtttttatt atataggacc
     1801 tggagatagg gtagcctgct ttgcctgtgg tgggaagctc agtaactggg aaccaaagga
     1861 tgatgctatg tcagaacacc ggaggcattt tcccaactgt ccatttttgg aaaattctct
     1921 agaaactctg aggtttagca tttcaaatct gagcatgcag acacatgcag ctcgaatgag
     1981 aacatttatg tactggccat ctagtgttcc agttcagcct gagcagcttg caagtgctgg
     2041 tttttattat gtgggtcgca atgatgatgt caaatgcttt tgttgtgatg gtggcttgag
     2101 gtgttgggaa tctggagatg atccatgggt agaacatgcc aagtggtttc caaggtgtga
     2161 gttcttgata cgaatgaaag gccaagagtt tgttgatgag attcaaggta gatatcctca
     2221 tcttcttgaa cagctgttgt caacttcaga taccactgga gaagaaaatg ctgacccacc
     2281 aattattcat tttggacctg gagaaagttc ttcagaagat gctgtcatga tgaatacacc
     2341 tgtggttaaa tctgccttgg aaatgggctt taatagagac ctggtgaaac aaacagttca
     2401 aagtaaaatc ctgacaactg gagagaacta taaaacagtt aatgatattg tgtcagcact
     2461 tctaaatgct gaagatgaaa aaagagagga ggagaaggaa aaacaagctg aagaaatggc
     2521 atcagatgat ttgtcattaa ttcggaagaa cagaatggct ctctttcaac aattgacatg
     2581 tgtgcttcct atcctggata atcttttaaa ggccaatgta attaataaac aggaacatga
     2641 tattattaaa caaaaaacac agataccttt acaagcgaga gaactgattg ataccatttt
     2701 ggttaaagga aatgctgcgg ccaacatctt caaaaactgt ctaaaagaaa ttgactctac
     2761 attgtataag aacttatttg tggataagaa tatgaagtat attccaacag aagatgtttc
     2821 aggtctgtca ctggaagaac aattgaggag gttgcaagaa gaacgaactt gtaaagtgtg
     2881 tatggacaaa gaagtttctg ttgtatttat tccttgtggt catctggtag tatgccagga
     2941 atgtgcccct tctctaagaa aatgccctat ttgcaggggt ataatcaagg gtactgttcg
     3001 tacatttctc tcttaaagaa aaatagtcta tattttaacc tgcataaaaa ggtctttaaa
     3061 atattgttga acacttgaag ccatctaaag taaaaaggga attatgagtt tttcaattag
     3121 taacattcat gttctagtct gctttggtac taataatctt gtttctgaaa agatggtatc
     3181 atatatttaa tcttaatctg tttatttaca agggaagatt tatgtttggt gaactatatt
     3241 agtatgtatg tgtacctaag ggagtagtgt cactgcttgt tatgcatcat ttcaggagtt
     3301 actggatttg ttgttctttc agaaagcttt gaatactaaa ttatagtgta gaaaagaact
     3361 ggaaaccagg aactctggag ttcatcagag ttatggtgcc gaattgtctt tggtgctttt
     3421 cacttgtgtt ttaaaataag gatttttctc ttatttctcc ccctagtttg tgagaaacat
     3481 ctcaataaag tgcttt
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_000501. Homo sapiens elas...[gi:5881412] Links  


LOCUS       ELN                     2274 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens elastin (supravalvular aortic stenosis,
            Williams-Beuren syndrome) (ELN), mRNA.
ACCESSION   NM_000501
VERSION     NM_000501.1  GI:5881412
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2274)
  AUTHORS   Indik,Z., Yoon,K., Morrow,S.D., Cicila,G., Rosenbloom,J.,
            Rosenbloom,J. and Ornstein-Goldstein,N.
  TITLE     Structure of the 3' region of the human elastin gene: great
            abundance of Alu repetitive sequences and few coding sequences
  JOURNAL   Connect. Tissue Res. 16 (3), 197-211 (1987)
  MEDLINE   87274906
   PUBMED   3038460
REFERENCE   2  (bases 1 to 2274)
  AUTHORS   Indik,Z., Yeh,H., Ornstein-Goldstein,N., Sheppard,P., Anderson,N.,
            Rosenbloom,J.C., Peltonen,L. and Rosenbloom,J.
  TITLE     Alternative splicing of human elastin mRNA indicated by sequence
            analysis of cloned genomic and complementary DNA
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 84 (16), 5680-5684 (1987)
  MEDLINE   87289668
   PUBMED   3039501
REFERENCE   3  (bases 1 to 2274)
  AUTHORS   Fazio,M.J., Olsen,D.R., Kuivaniemi,H., Chu,M.L., Davidson,J.M.,
            Rosenbloom,J. and Uitto,J.
  TITLE     Isolation and characterization of human elastin cDNAs, and
            age-associated variation in elastin gene expression in cultured
            skin fibroblasts
  JOURNAL   Lab. Invest. 58 (3), 270-277 (1988)
  MEDLINE   88156138
   PUBMED   2831431
REFERENCE   4  (bases 1 to 2274)
  AUTHORS   Fazio,M.J., Olsen,D.R., Kauh,E.A., Baldwin,C.T., Indik,Z.,
            Ornstein-Goldstein,N., Yeh,H., Rosenbloom,J. and Uitto,J.
  TITLE     Cloning of full-length elastin cDNAs from a human skin fibroblast
            recombinant cDNA library: further elucidation of alternative
            splicing utilizing exon-specific oligonucleotides
  JOURNAL   J. Invest. Dermatol. 91 (5), 458-464 (1988)
  MEDLINE   89009960
   PUBMED   3171221
REFERENCE   5  (bases 1 to 2274)
  AUTHORS   Fazio,M.J., Mattei,M.G., Passage,E., Chu,M.L., Black,D.,
            Solomon,E., Davidson,J.M. and Uitto,J.
  TITLE     Human elastin gene: new evidence for localization to the long arm
            of chromosome 7
  JOURNAL   Am. J. Hum. Genet. 48 (4), 696-703 (1991)
  MEDLINE   91196727
   PUBMED   2014796
REFERENCE   6  (bases 1 to 2274)
  AUTHORS   Curran,M.E., Atkinson,D.L., Ewart,A.K., Morris,C.A., Leppert,M.F.
            and Keating,M.T.
  TITLE     The elastin gene is disrupted by a translocation associated with
            supravalvular aortic stenosis
  JOURNAL   Cell 73 (1), 159-168 (1993)
  MEDLINE   93214988
   PUBMED   8096434
REFERENCE   7  (bases 1 to 2274)
  AUTHORS   Ewart,A.K., Morris,C.A., Atkinson,D., Jin,W., Sternes,K.,
            Spallone,P., Stock,A.D., Leppert,M. and Keating,M.T.
  TITLE     Hemizygosity at the elastin locus in a developmental disorder,
            Williams syndrome
  JOURNAL   Nat. Genet. 5 (1), 11-16 (1993)
  MEDLINE   94035109
   PUBMED   7693128
REFERENCE   8  (bases 1 to 2274)
  AUTHORS   Li,D.Y., Brooke,B., Davis,E.C., Mecham,R.P., Sorensen,L.K.,
            Boak,B.B., Eichwald,E. and Keating,M.T.
  TITLE     Elastin is an essential determinant of arterial morphogenesis
  JOURNAL   Nature 393 (6682), 276-280 (1998)
  MEDLINE   98268782
   PUBMED   9607766
REFERENCE   9  (bases 1 to 2274)
  AUTHORS   Tassabehji,M., Metcalfe,K., Hurst,J., Ashcroft,G.S., Kielty,C.,
            Wilmot,C., Donnai,D., Read,A.P. and Jones,C.J.
  TITLE     An elastin gene mutation producing abnormal tropoelastin and
            abnormal elastic fibres in a patient with autosomal dominant cutis
            laxa
  JOURNAL   Hum. Mol. Genet. 7 (6), 1021-1028 (1998)
  MEDLINE   98248427
   PUBMED   9580666
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from M17282.1.
FEATURES             Location/Qualifiers
     source          1..2274
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..2274
                     /gene="ELN"
                     /note="WS; WBS; SVAS"
                     /db_xref="LocusID:2006"
                     /db_xref="MIM:130160"
     CDS             1..2274
                     /gene="ELN"
                     /note="elastin C precursor"
                     /codon_start=1
                     /product="elastin"
                     /protein_id="NP_000492.1"
                     /db_xref="GI:5881413"
                     /db_xref="LocusID:2006"
                     /db_xref="MIM:130160"
                     /translation="MAGLTAAAPRPGVLLLLLSILHPSRPGGVPGAIPGGVPGGVFYP
                     GAGLGALGGGALGPGGKPLKPVPGGLAGAGLGAGLGAFPAVTFPGALVPGGVADAAAA
                     YKAAKAGAGLGGVPGVGGLGVSAGAVVPQPGAGVKPGKVPGVGLPGVYPGGVLPGARF
                     PGVGVLPGVPTGAGVKPKAPGVGGAFAGIPGVGPFGGPQPGVPLGYPIKAPKLPGGYG
                     LPYTTGKLPYGYGPGGVAGAAGKAGYPTGTGVGPQAAAAAAAKAAAKFGAGAAGVLPG
                     VGGAGVPGVPGAIPGIGGIAGVGTPAAAAAAAAAAKAAKYGAAAGLVPGGPGFGPGVV
                     GVPGAGVPGVGVPGAGIPVVPGAGIPGAAVPGVVSPEAAAKAAAKAAKYGARPGVGVG
                     GIPTYGVGAGGFPGFGVGVGGIPGVAGVPSVGGVPGVGGVPGVGISPEAQAAAAAKAA
                     KYGVGTPAAAAAKAAAKAAQFGLVPGVGVAPGVGVAPGVGVAPGVGLAPGVGVAPGVG
                     VAPGVGVAPGIGPGGVAAAAKSAAKVAAKAQLRAAAGLGAGIPGLGVGVGVPGLGVGA
                     GVPGLGVGAGVPGFGAGADEGVRRSLSPELREGDPSSSQHLPSTPSSPRVPGALAAAK
                     AAKYGAAVPGVLGGLGALGGVGIPGGVVGAGPAAAAAAAKAAAKAAQFGLVGAAGLGG
                     LGVGGLGVPGVGGLGGIPPAAAAKAAKYGAAGLGGVLGGAGQFPLGGVAARPGFGLSP
                     IFPGGACLGKACGRKRK"
     variation       1192
                     /gene="ELN"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:2229427"
BASE COUNT      339 a    617 c    845 g    473 t
ORIGIN      
        1 atggcgggtc tgacggcggc ggccccgcgg cccggagtcc tcctgctcct gctgtccatc
       61 ctccacccct ctcggcctgg aggggtccct ggggccattc ctggtggagt tcctggagga
      121 gtcttttatc caggggctgg tctcggagcc cttggaggag gagcgctggg gcctggaggc
      181 aaacctctta agccagttcc cggagggctt gcgggtgctg gccttggggc agggctcggc
      241 gccttccccg cagttacctt tccgggggct ctggtgcctg gtggagtggc tgacgctgct
      301 gcagcctata aagctgctaa ggctggcgct gggcttggtg gtgtcccagg agttggtggc
      361 ttaggagtgt ctgcaggtgc ggtggttcct cagcctggag ccggagtgaa gcctgggaaa
      421 gtgccgggtg tggggctgcc aggtgtatac ccaggtggcg tgctcccagg agctcggttc
      481 cccggtgtgg gggtgctccc tggagttccc actggagcag gagttaagcc caaggctcca
      541 ggtgtaggtg gagcttttgc tggaatccca ggagttggac cctttggggg accgcaacct
      601 ggagtcccac tggggtatcc catcaaggcc cccaagctgc ctggtggcta tggactgccc
      661 tacaccacag ggaaactgcc ctatggctat gggcccggag gagtggctgg tgcagcgggc
      721 aaggctggtt acccaacagg gacaggggtt ggcccccagg cagcagcagc agcggcagct
      781 aaagcagcag caaagttcgg tgctggagca gccggagtcc tccctggtgt tggaggggct
      841 ggtgttcctg gcgtgcctgg ggcaattcct ggaattggag gcatcgcagg cgttgggact
      901 ccagctgcag ctgcagctgc agcagcagcc gctaaggcag ccaagtatgg agctgctgca
      961 ggcttagtgc ctggtgggcc aggctttggc ccgggagtag ttggtgtccc aggagctggc
     1021 gttccaggtg ttggtgtccc aggagctggg attccagttg tcccaggtgc tgggatccca
     1081 ggtgctgcgg ttccaggggt tgtgtcacca gaagcagctg ctaaggcagc tgcaaaggca
     1141 gccaaatacg gggccaggcc cggagtcgga gttggaggca ttcctactta cggggttgga
     1201 gctgggggct ttcccggctt tggtgtcgga gtcggaggta tccctggagt cgcaggtgtc
     1261 cctagtgtcg gaggtgttcc cggagtcgga ggtgtcccgg gagttggcat ttcccccgaa
     1321 gctcaggcag cagctgccgc caaggctgcc aagtacggag tggggacccc agcagctgca
     1381 gctgctaaag cagccgccaa agccgcccag tttgggttag ttcctggtgt cggcgtggct
     1441 cctggagttg gcgtggctcc tggtgtcggt gtggctcctg gagttggctt ggctcctgga
     1501 gttggcgtgg ctcctggagt tggtgtggct cctggcgttg gcgtggctcc cggcattggc
     1561 cctggtggag ttgcagctgc agcaaaatcc gctgccaagg tggctgccaa agcccagctc
     1621 cgagctgcag ctgggcttgg tgctggcatc cctggacttg gagttggtgt cggcgtccct
     1681 ggacttggag ttggtgctgg tgttcctgga cttggagttg gtgctggtgt tcctggcttc
     1741 ggggcaggtg cagatgaggg agttaggcgg agcctgtccc ctgagctcag ggaaggagat
     1801 ccctcctcct ctcagcacct ccccagcacc ccctcatcac ccagggtacc tggagccctg
     1861 gctgccgcta aagcagccaa atatggagca gcagtgcctg gggtccttgg agggctcggg
     1921 gctctcggtg gagtaggcat cccaggcggt gtggtgggag ccggacccgc cgccgccgct
     1981 gccgcagcca aagctgctgc caaagccgcc cagtttggcc tagtgggagc cgctgggctc
     2041 ggaggactcg gagtcggagg gcttggagtt ccaggtgttg ggggccttgg aggtatacct
     2101 ccagctgcag ccgctaaagc agctaaatac ggtgctgctg gccttggagg tgtcctaggg
     2161 ggtgccgggc agttcccact tggaggagtg gcagcaagac ctggcttcgg attgtctccc
     2221 attttcccag gtggggcctg cctggggaaa gcttgtggcc ggaagagaaa atga
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&


    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001774. Homo sapiens CD37...[gi:4502662] Links  


LOCUS       CD37                    1125 bp    mRNA    linear   PRI 28-MAY-2002
DEFINITION  Homo sapiens CD37 antigen (CD37), mRNA.
ACCESSION   NM_001774
VERSION     NM_001774.1  GI:4502662
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1125)
  AUTHORS   Schwartz-Albiez,R., Dorken,B., Hofmann,W. and Moldenhauer,G.
  TITLE     The B cell-associated CD37 antigen (gp40-52). Structure and
            subcellular expression of an extensively glycosylated glycoprotein
  JOURNAL   J. Immunol. 140 (3), 905-914 (1988)
  MEDLINE   88116711
   PUBMED   3257508
REFERENCE   2  (bases 1 to 1125)
  AUTHORS   Classon,B.J., Williams,A.F., Willis,A.C., Seed,B. and
            Stamenkovic,I.
  TITLE     The primary structure of the human leukocyte antigen CD37, a
            species homologue of the rat MRC OX-44 antigen
  JOURNAL   J. Exp. Med. 169 (4), 1497-1502 (1989)
  MEDLINE   89176904
   PUBMED   2466944
  REMARK    revised by [3]
REFERENCE   3  (bases 1 to 1125)
  AUTHORS   Classon,B.J., Williams,A.F., Willis,A.C., Seed,B. and
            Stamenkovic,I.
  TITLE     The primary structure of the human leukocyte antigen CD37, a
            species homologue of the rat MRC OX-44 antigen
  JOURNAL   J. Exp. Med. 172 (3), 1007 (1990)
  MEDLINE   90354767
   PUBMED   2388030
REFERENCE   4  (bases 1 to 1125)
  AUTHORS   Horejsi,V. and Vlcek,C.
  TITLE     Novel structurally distinct family of leucocyte surface
            glycoproteins including CD9, CD37, CD53 and CD63
  JOURNAL   FEBS Lett. 288 (1-2), 1-4 (1991)
  MEDLINE   91348240
   PUBMED   1879540
REFERENCE   5  (bases 1 to 1125)
  AUTHORS   Virtaneva,K.I., Angelisova,P., Baumruker,T., Horejsi,V.,
            Nevanlinna,H. and Schroder,J.
  TITLE     The genes for CD37, CD53, and R2, all members of a novel gene
            family, are located on different chromosomes
  JOURNAL   Immunogenetics 37 (6), 461-465 (1993)
  MEDLINE   93170894
   PUBMED   8436422
REFERENCE   6  (bases 1 to 1125)
  AUTHORS   Wright,M.D., Rochelle,J.M., Tomlinson,M.G., Seldin,M.F. and
            Williams,A.F.
  TITLE     Gene structure, chromosomal localization, and protein sequence of
            mouse CD53 (Cd53): evidence that the transmembrane 4 superfamily
            arose by gene duplication
  JOURNAL   Int. Immunol. 5 (2), 209-216 (1993)
  MEDLINE   93200067
   PUBMED   8452817
REFERENCE   7  (bases 1 to 1125)
  AUTHORS   Angelisova,P., Hilgert,I. and Horejsi,V.
  TITLE     Association of four antigens of the tetraspans family (CD37, CD53,
            TAPA-1, and R2/C33) with MHC class II glycoproteins
  JOURNAL   Immunogenetics 39 (4), 249-256 (1994)
  MEDLINE   94164694
   PUBMED   8119731
REFERENCE   8  (bases 1 to 1125)
  AUTHORS   Serru,V., Le Naour,F., Billard,M., Azorsa,D.O., Lanza,F.,
            Boucheix,C. and Rubinstein,E.
  TITLE     Selective tetraspan-integrin complexes (CD81/alpha4beta1,
            CD151/alpha3beta1, CD151/alpha6beta1) under conditions disrupting
            tetraspan interactions
  JOURNAL   Biochem. J. 340 (Pt 1), 103-111 (1999)
  MEDLINE   99247901
   PUBMED   10229664
REFERENCE   9  (bases 1 to 1125)
  AUTHORS   Berditchevski,F.
  TITLE     Complexes of tetraspanins with integrins: more than meets the eye
  JOURNAL   J. Cell. Sci. 114 (Pt 23), 4143-4151 (2001)
  MEDLINE   21601835
   PUBMED   11739647
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X14046.1.
            Summary: The protein encoded by this gene is a member of the
            transmembrane 4 superfamily, also known as the tetraspanin family.
            Most of these members are cell-surface proteins that are
            characterized by the presence of four hydrophobic domains. The
            proteins mediate signal transduction events that play a role in the
            regulation of cell development, activation, growth and motility.
            This encoded protein is a cell surface glycoprotein that is known
            to complex with integrins and other transmembrane 4 superfamily
            proteins. It may play a role in T-cell-B-cell interactions.
FEATURES             Location/Qualifiers
     source          1..1125
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13-q13.4"
     gene            1..1125
                     /gene="CD37"
                     /note="GP52-40"
                     /db_xref="LocusID:951"
                     /db_xref="MIM:151523"
     CDS             64..909
                     /gene="CD37"
                     /note="leukocyte surface antigen CD37; cell
                     differentiation antigen 37"
                     /codon_start=1
                     /product="CD37 antigen"
                     /protein_id="NP_001765.1"
                     /db_xref="GI:4502663"
                     /db_xref="LocusID:951"
                     /db_xref="MIM:151523"
                     /translation="MSAQESCLSLIKYFLFVFNLFFFVLGSLIFCFGIWILIDKTSFV
                     SFVGLAFVPLQIWSKVLAISGIFTMGIALLGCVGALKELRCLLGLYFGMLLLLFATQI
                     TLGILISTQRAQLERSLRDVVEKTIQKYGTNPEETAAEESWDYVQFQLRCCGWHYPQD
                     WFQVLILRGNGSEAHRVPCSCYNLSATNDSTILDKVILPQLSRLGHLARSRHSADICA
                     VPAESHIYREGCAQGLQKWLHNNLISIVGICLGVGLLELGFMTLSIFLCRNLDHVYNR
                     LARYR"
     misc_feature    97..873
                     /gene="CD37"
                     /note="transmembrane4; Region: Tetraspanin family"
                     /db_xref="CDD:pfam00335"
     variation       711
                     /gene="CD37"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1064212"
     variation       738
                     /gene="CD37"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3197279"
     variation       738
                     /gene="CD37"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1134911"
     variation       1016
                     /gene="CD37"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3179942"
BASE COUNT      191 a    388 c    291 g    255 t
ORIGIN      
        1 gtctccccca ctgtcagcac ctcttctgtg tggtgagtgg accgcttacc ccactaggtg
       61 aagatgtcag cccaggagag ctgcctcagc ctcatcaagt acttcctctt cgttttcaac
      121 ctcttcttct tcgtcctcgg cagcctgatc ttctgcttcg gcatctggat cctcatcgac
      181 aagaccagct tcgtgtcctt tgtgggcttg gccttcgtgc ctctgcagat ctggtccaaa
      241 gtcctggcca tctcaggaat cttcaccatg ggcatcgccc tcctgggttg tgtgggggcc
      301 ctcaaggagc tccgctgcct cctgggcctg tattttggga tgctgctgct cctgtttgcc
      361 acacagatca ccctgggaat cctcatctcc actcagcggg cccagctgga gcgaagcttg
      421 cgggacgtcg tagagaaaac catccaaaag tacggcacca accccgagga gaccgcggcc
      481 gaggagagct gggactatgt gcagttccag ctgcgctgct gcggctggca ctacccgcag
      541 gactggttcc aagtcctcat cctgagaggt aacgggtcgg aggcgcaccg cgtgccctgc
      601 tcctgctaca acttgtcggc gaccaacgac tccacaatcc tagataaggt gatcttgccc
      661 cagctcagca ggcttggaca cctggcgcgg tccagacaca gtgcagacat ctgcgctgtc
      721 cctgcagaga gccacatcta ccgcgagggc tgcgcgcagg gcctccagaa gtggctgcac
      781 aacaacctta tttccatagt gggcatttgc ctgggcgtcg gcctactcga gctcgggttc
      841 atgacgctct cgatattcct gtgcagaaac ctggaccacg tctacaaccg gctcgctcga
      901 taccgttagg ccccgccctc cccaaagtcc cgccccgccc ccgtcacgtg cgctgggcac
      961 ttccctgctg cctgtaaata tttgtttaat ccccagttcg cctggagccc tccgccttca
     1021 cattcccctg gggacccacg tggctgcgtg cccctgctgc tgtcacctct cccacgggac
     1081 ctggggcttt cgtccacagc ttcctgtccc catctgtcgg cctac
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_003355. Homo sapiens unco...[gi:13259540] Links  


LOCUS       UCP2                    1646 bp    mRNA    linear   PRI 09-MAR-2001
DEFINITION  Homo sapiens uncoupling protein 2 (mitochondrial, proton carrier)
            (UCP2), nuclear gene encoding mitochondrial protein, mRNA.
ACCESSION   NM_003355
VERSION     NM_003355.2  GI:13259540
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1646)
  AUTHORS   Fleury,C., Neverova,M., Collins,S., Raimbault,S., Champigny,O.,
            Levi-Meyrueis,C., Bouillaud,F., Seldin,M.F., Surwit,R.S.,
            Ricquier,D. and Warden,C.H.
  TITLE     Uncoupling protein-2: a novel gene linked to obesity and
            hyperinsulinemia
  JOURNAL   Nat. Genet. 15 (3), 269-272 (1997)
  MEDLINE   97207646
   PUBMED   9054939
REFERENCE   2  (bases 1 to 1646)
  AUTHORS   Gimeno,R.E., Dembski,M., Weng,X., Deng,N., Shyjan,A.W.,
            Gimeno,C.J., Iris,F., Ellis,S.J., Woolf,E.A. and Tartaglia,L.A.
  TITLE     Cloning and characterization of an uncoupling protein homolog: a
            potential molecular mediator of human thermogenesis
  JOURNAL   Diabetes 46 (5), 900-906 (1997)
  MEDLINE   97278985
   PUBMED   9133562
REFERENCE   3  (bases 1 to 1646)
  AUTHORS   Boss,O., Samec,S., Paoloni-Giacobino,A., Rossier,C., Dulloo,A.,
            Seydoux,J., Muzzin,P. and Giacobino,J.P.
  TITLE     Uncoupling protein-3: a new member of the mitochondrial carrier
            family with tissue-specific expression
  JOURNAL   FEBS Lett. 408 (1), 39-42 (1997)
  MEDLINE   97324095
   PUBMED   9180264
REFERENCE   4  (bases 1 to 1646)
  AUTHORS   Vidal-Puig,A., Solanes,G., Grujic,D., Flier,J.S. and Lowell,B.B.
  TITLE     UCP3: an uncoupling protein homologue expressed preferentially and
            abundantly in skeletal muscle and brown adipose tissue
  JOURNAL   Biochem. Biophys. Res. Commun. 235 (1), 79-82 (1997)
  MEDLINE   97339440
   PUBMED   9196039
REFERENCE   5  (bases 1 to 1646)
  AUTHORS   Argyropoulos,G., Brown,A.M., Peterson,R., Likes,C.E., Watson,D.K.
            and Garvey,W.T.
  TITLE     Structure and organization of the human uncoupling protein 2 gene
            and identification of a common biallelic variant in Caucasian and
            African-American subjects
  JOURNAL   Diabetes 47 (4), 685-687 (1998)
  MEDLINE   98227655
   PUBMED   9568704
REFERENCE   6  (bases 1 to 1646)
  AUTHORS   Pecqueur,C., Cassard-Doulcier,A.M., Raimbault,S., Miroux,B.,
            Fleury,C., Gelly,C., Bouillaud,F. and Ricquier,D.
  TITLE     Functional organization of the human uncoupling protein-2 gene, and
            juxtaposition to the uncoupling protein-3 gene
  JOURNAL   Biochem. Biophys. Res. Commun. 255 (1), 40-46 (1999)
  MEDLINE   99185293
   PUBMED   10082652
  REMARK    In Fig.2, accession numbers for human and mouse genomic sequences
            are incorrectly published. GenBank association of accession numbers
            with species is correct.
REFERENCE   7  (bases 1 to 1646)
  AUTHORS   Ricquier,D. and Bouillaud,F.
  TITLE     The uncoupling protein homologues: UCP1, UCP2, UCP3, StUCP and
            AtUCP
  JOURNAL   Biochem. J. 345 Pt 2, 161-179 (2000)
  MEDLINE   20088647
   PUBMED   10620491
REFERENCE   8  (bases 1 to 1646)
  AUTHORS   Jezek,P. and Urbankova,E.
  TITLE     Specific sequence of motifs of mitochondrial uncoupling proteins
  JOURNAL   IUBMB Life 49 (1), 63-70 (2000)
  MEDLINE   20233297
   PUBMED   10772343
  REMARK    Describes transmembrane, matrix and cytosolic domains, and unique
            signatures of the mitochondrial anion carrier and the mitochondrial
            uncoupling protein families.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF096289.1.
            On Mar 9, 2001 this sequence version replaced gi:4507804.
            Summary: Mitochondrial uncoupling proteins (UCP) are members of the
            larger family of mitochondrial anion carrier proteins (MACP). UCPs
            separate oxidative phosphorylation from ATP synthesis with energy
            dissipated as heat, also referred to as the mitochondrial proton
            leak. UCPs facilitate the transfer of anions from the inner to the
            outer mitochondrial membrane and the return transfer of protons
            from the outer to the inner mitochondrial membrane. They also
            reduce the mitochondrial membrane potential in mammalian cells.
            Tissue specificity occurs for the different UCPs and the exact
            methods of how UCPs transfer H+/OH- are not known. UCPs contain the
            three homologous protein domains of MACPs. This gene is expressed
            in many tissues, with the greatest expression in skeletal muscle.
            It is thought to play a role in nonshivering thermogenesis, obesity
            and diabetes. Chromosomal order is 5'-UCP3-UCP2-3'.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1646
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13"
     gene            1..1646
                     /gene="UCP2"
                     /note="SLC25A8; UCPH"
                     /db_xref="LocusID:7351"
                     /db_xref="MIM:601693"
     CDS             381..1310
                     /gene="UCP2"
                     /codon_start=1
                     /product="uncoupling protein 2"
                     /protein_id="NP_003346.2"
                     /db_xref="GI:13259541"
                     /db_xref="LocusID:7351"
                     /db_xref="MIM:601693"
                     /translation="MVGFKATDVPPTATVKFLGAGTAACIADLITFPLDTAKVRLQIQ
                     GESQGPVRATASAQYRGVMGTILTMVRTEGPRSLYNGLVAGLQRQMSFASVRIGLYDS
                     VKQFYTKGSEHASIGSRLLAGSTTGALAVAVAQPTDVVKVRFQAQARAGGGRRYQSTV
                     NAYKTIAREEGFRGLWKGTSPNVARNAIVNCAELVTYDLIKDALLKANLMTDDLPCHF
                     TSAFGAGFCTTVIASPVDVVKTRYMNSALGQYSSAGHCALTMLQKEGPRAFYKGFMPS
                     FLRLGSWNVVMFVTYEQLKRALMAACTSREAPF"
     misc_feature    408..707
                     /gene="UCP2"
                     /note="mito_carr; Region: Mitochondrial carrier proteins"
                     /db_xref="CDD:pfam00153"
     misc_feature    429..482
                     /gene="UCP2"
                     /note="Region: transmembrane domain"
     misc_feature    612..680
                     /gene="UCP2"
                     /note="Region: transmembrane domain"
     misc_feature    714..1004
                     /gene="UCP2"
                     /note="mito_carr; Region: Mitochondrial carrier proteins"
                     /db_xref="CDD:pfam00153"
     misc_feature    738..791
                     /gene="UCP2"
                     /note="Region: transmembrane domain"
     misc_feature    900..971
                     /gene="UCP2"
                     /note="Region: transmembrane domain"
     misc_feature    1011..1277
                     /gene="UCP2"
                     /note="mito_carr; Region: Mitochondrial carrier proteins"
                     /db_xref="CDD:pfam00153"
     misc_feature    1026..1085
                     /gene="UCP2"
                     /note="Region: transmembrane domain"
     misc_feature    1170..1199
                     /gene="UCP2"
                     /note="Region: purine nucleotide binding domain"
     misc_feature    1185..1253
                     /gene="UCP2"
                     /note="Region: transmembrane domain"
     variation       544
                     /gene="UCP2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2228495"
     variation       1386
                     /gene="UCP2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1050885"
     variation       1472
                     /gene="UCP2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1050892"
     variation       1582
                     /gene="UCP2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1050905"
     variation       1615
                     /gene="UCP2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1050915"
     polyA_signal    1626..1630
                     /gene="UCP2"
     polyA_site      1646
                     /gene="UCP2"
                     /evidence=experimental
BASE COUNT      309 a    535 c    405 g    397 t
ORIGIN      
        1 cactgcgaag cccagctgcg cgcgccttgg gattgactgt ccacgctcgc ccggctcgtc
       61 cgacgcgccc tccgccagcc gacagacaca gccgcacgca ctgccgtgtt ctccctgcgg
      121 ctcggacaca tagtatgacc attaggtgtt tcgtctccca cccattttct atggaaaacc
      181 aaggggatcg ggccatgata gccactggca gctttgaaga acgggacacc tttagagaag
      241 cttgatcttg gaggcctcac cgtgagacct tacaaagccg gattccggca gagttcctct
      301 atctcgtctt gttgctgatt aaaggtgccc ctgtctccag tttttctcca tctcctggga
      361 cgtagcagga aatcagcatc atggttgggt tcaaggccac agatgtgccc cctactgcca
      421 ctgtgaagtt tcttggggct ggcacagctg cctgcatcgc agatctcatc acctttcctc
      481 tggatactgc taaagtccgg ttacagatcc aaggagaaag tcaggggcca gtgcgcgcta
      541 cagccagcgc ccagtaccgc ggtgtgatgg gcaccattct gaccatggtg cgtactgagg
      601 gcccccgaag cctctacaat gggctggttg ccggcctgca gcgccaaatg agctttgcct
      661 ctgtccgcat cggcctgtat gattctgtca aacagttcta caccaagggc tctgagcatg
      721 ccagcattgg gagccgcctc ctagcaggca gcaccacagg tgccctggct gtggctgtgg
      781 cccagcccac ggatgtggta aaggtccgat tccaagctca ggcccgggct ggaggtggtc
      841 ggagatacca aagcaccgtc aatgcctaca agaccattgc ccgagaggaa gggttccggg
      901 gcctctggaa agggacctct cccaatgttg ctcgtaatgc cattgtcaac tgtgctgagc
      961 tggtgaccta tgacctcatc aaggatgccc tcctgaaagc caacctcatg acagatgacc
     1021 tcccttgcca cttcacttct gcctttgggg caggcttctg caccactgtc atcgcctccc
     1081 ctgtagacgt ggtcaagacg agatacatga actctgccct gggccagtac agtagcgctg
     1141 gccactgtgc ccttaccatg ctccagaagg aggggccccg agccttctac aaagggttca
     1201 tgccctcctt tctccgcttg ggttcctgga acgtggtgat gttcgtcacc tatgagcagc
     1261 tgaaacgagc cctcatggct gcctgcactt cccgagaggc tcccttctga gcctctcctg
     1321 ctgctgacct gatcacctct ggctttgtct ctagccgggc catgctttcc ttttcttcct
     1381 tctttctctt ccctccttcc cttctctcct tccctctttc cccacctctt ccttccgctc
     1441 ctttacctac caccttccct ctttctacat tctcatctac tcattgtctc agtgctggtg
     1501 gagttgacat ttgacagtgt gggaggcctc gtaccagcca ggatcccaag cgtcccgtcc
     1561 cttggaaagt tcagccagaa tcttcgtcct gcccccgaca gcccagccta gcccacttgt
     1621 catccataaa gcaagctcaa ccttgg
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneLinkOutLinkOutHelpHelp  


&&&&&&&


    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene  for        
 
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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_000206. Homo sapiens inte...[gi:4557881] Links  


LOCUS       IL2RG                   1451 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens interleukin 2 receptor, gamma (severe combined
            immunodeficiency) (IL2RG), mRNA.
ACCESSION   NM_000206
VERSION     NM_000206.1  GI:4557881
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1451)
  AUTHORS   Takeshita,T., Asao,H., Ohtani,K., Ishii,N., Kumaki,S., Tanaka,N.,
            Munakata,H., Nakamura,M. and Sugamura,K.
  TITLE     Cloning of the gamma chain of the human IL-2 receptor
  JOURNAL   Science 257 (5068), 379-382 (1992)
  MEDLINE   92335883
   PUBMED   1631559
REFERENCE   2  (bases 1 to 1451)
  AUTHORS   Noguchi,M., Yi,H., Rosenblatt,H.M., Filipovich,A.H., Adelstein,S.,
            Modi,W.S., McBride,O.W. and Leonard,W.J.
  TITLE     Interleukin-2 receptor gamma chain mutation results in X-linked
            severe combined immunodeficiency in humans
  JOURNAL   Cell 73 (1), 147-157 (1993)
  MEDLINE   93214986
   PUBMED   8462096
REFERENCE   3  (bases 1 to 1451)
  AUTHORS   Noguchi M, Adelstein S, Cao X and Leonard WJ.
  TITLE     Characterization of the human interleukin-2 receptor gamma chain
            gene
  JOURNAL   J. Biol. Chem. 268 (18), 13601-13608 (1993)
  MEDLINE   93293887
   PUBMED   8514792
REFERENCE   4  (bases 1 to 1451)
  AUTHORS   Puck,J.M., Deschenes,S.M., Porter,J.C., Dutra,A.S., Brown,C.J.,
            Willard,H.F. and Henthorn,P.S.
  TITLE     The interleukin-2 receptor gamma chain maps to Xq13.1 and is
            mutated in X-linked severe combined immunodeficiency, SCIDX1
  JOURNAL   Hum. Mol. Genet. 2 (8), 1099-1104 (1993)
  MEDLINE   94004847
   PUBMED   8401490
REFERENCE   5  (bases 1 to 1451)
  AUTHORS   Kondo,M., Takeshita,T., Ishii,N., Nakamura,M., Watanabe,S., Arai,K.
            and Sugamura,K.
  TITLE     Sharing of the interleukin-2 (IL-2) receptor gamma chain between
            receptors for IL-2 and IL-4
  JOURNAL   Science 262 (5141), 1874-1877 (1993)
  MEDLINE   94090315
   PUBMED   8266076
REFERENCE   6  (bases 1 to 1451)
  AUTHORS   Noguchi,M., Nakamura,Y., Russell,S.M., Ziegler,S.F., Tsang,M.,
            Cao,X. and Leonard,W.J.
  TITLE     Interleukin-2 receptor gamma chain: a functional component of the
            interleukin-7 receptor
  JOURNAL   Science 262 (5141), 1877-1880 (1993)
  MEDLINE   94090316
   PUBMED   8266077
REFERENCE   7  (bases 1 to 1451)
  AUTHORS   Russell,S.M., Keegan,A.D., Harada,N., Nakamura,Y., Noguchi,M.,
            Leland,P., Friedmann,M.C., Miyajima,A., Puri,R.K., Paul,W.E. et al.
  TITLE     Interleukin-2 receptor gamma chain: a functional component of the
            interleukin-4 receptor
  JOURNAL   Science 262 (5141), 1880-1883 (1993)
  MEDLINE   94090317
   PUBMED   8266078
REFERENCE   8  (bases 1 to 1451)
  AUTHORS   Bani,L., Pasquier,V., Kryworuchko,M., Salamero,J. and Theze,J.
  TITLE     Unstimulated human CD4 lymphocytes express a cytoplasmic immature
            form of the common cytokine receptor gamma-chain
  JOURNAL   J. Immunol. 167 (1), 344-349 (2001)
  MEDLINE   21311891
   PUBMED   11418669
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D11086.1.
            Summary:  The interleukin 2 (IL2) receptor gamma chain (IL2RG), an
            important signalling component of many interleukin receptors
            (IL2,IL4,IL7,IL9, and IL15), is thus referred to as the common
            gamma chain.  Mutations in this X-chromosome-linked gene cause
            X-linked severe combined immunodeficiency (XSCID).
FEATURES             Location/Qualifiers
     source          1..1451
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
                     /cell_line="MOLT4"
                     /cell_type="T cell"
                     /tissue_type="Lymphocyte"
     gene            1..1451
                     /gene="IL2RG"
                     /note="IMD4; CD132; SCIDX; SCIDX1"
                     /db_xref="LocusID:3561"
                     /db_xref="MIM:308380"
     CDS             15..1124
                     /gene="IL2RG"
                     /note="Interleukin-2 receptor, gamma; common cytokine
                     receptor gamma chain"
                     /codon_start=1
                     /product="interleukin 2 receptor, gamma chain, precursor"
                     /protein_id="NP_000197.1"
                     /db_xref="GI:4557882"
                     /db_xref="LocusID:3561"
                     /db_xref="MIM:308380"
                     /translation="MLKPSLPFTSLLFLQLPLLGVGLNTTILTPNGNEDTTADFFLTT
                     MPTDSLSVSTLPLPEVQCFVFNVEYMNCTWNSSSEPQPTNLTLHYWYKNSDNDKVQKC
                     SHYLFSEEITSGCQLQKKEIHLYQTFVVQLQDPREPRRQATQMLKLQNLVIPWAPENL
                     TLHKLSESQLELNWNNRFLNHCLEHLVQYRTDWDHSWTEQSVDYRHKFSLPSVDGQKR
                     YTFRVRSRFNPLCGSAQHWSEWSHPIHWGSNTSKENPFLFALEAVVISVGSMGLIISL
                     LCVYFWLERTMPRIPTLKNLEDLVTEYHGNFSAWSGVSKGLAESLQPDYSERLCLVSE
                     IPPKGGALGEGPGASPCNQHSPYWAPPCYTLKPET"
     sig_peptide     15..80
                     /gene="IL2RG"
     mat_peptide     81..1121
                     /gene="IL2RG"
                     /product="interleukin 2 receptor gamma chain"
     polyA_site      1451
                     /gene="IL2RG"
BASE COUNT      347 a    422 c    313 g    369 t
ORIGIN      
        1 gaagagcaag cgccatgttg aagccatcat taccattcac atccctctta ttcctgcagc
       61 tgcccctgct gggagtgggg ctgaacacga caattctgac gcccaatggg aatgaagaca
      121 ccacagctga tttcttcctg accactatgc ccactgactc cctcagtgtt tccactctgc
      181 ccctcccaga ggttcagtgt tttgtgttca atgtcgagta catgaattgc acttggaaca
      241 gcagctctga gccccagcct accaacctca ctctgcatta ttggtacaag aactcggata
      301 atgataaagt ccagaagtgc agccactatc tattctctga agaaatcact tctggctgtc
      361 agttgcaaaa aaaggagatc cacctctacc aaacatttgt tgttcagctc caggacccac
      421 gggaacccag gagacaggcc acacagatgc taaaactgca gaatctggtg atcccctggg
      481 ctccagagaa cctaacactt cacaaactga gtgaatccca gctagaactg aactggaaca
      541 acagattctt gaaccactgt ttggagcact tggtgcagta ccggactgac tgggaccaca
      601 gctggactga acaatcagtg gattatagac ataagttctc cttgcctagt gtggatgggc
      661 agaaacgcta cacgtttcgt gttcggagcc gctttaaccc actctgtgga agtgctcagc
      721 attggagtga atggagccac ccaatccact gggggagcaa tacttcaaaa gagaatcctt
      781 tcctgtttgc attggaagcc gtggttatct ctgttggctc catgggattg attatcagcc
      841 ttctctgtgt gtatttctgg ctggaacgga cgatgccccg aattcccacc ctgaagaacc
      901 tagaggatct tgttactgaa taccacggga acttttcggc ctggagtggt gtgtctaagg
      961 gactggctga gagtctgcag ccagactaca gtgaacgact ctgcctcgtc agtgagattc
     1021 ccccaaaagg aggggccctt ggggaggggc ctggggcctc cccatgcaac cagcatagcc
     1081 cctactgggc ccccccatgt tacaccctaa agcctgaaac ctgaacccca atcctctgac
     1141 agaagaaccc cagggtcctg tagccctaag tggtactaac tttccttcat tcaacccacc
     1201 tgcgtctcat actcacctca ccccactgtg gctgatttgg aattttgtgc ccccatgtaa
     1261 gcaccccttc atttggcatt ccccacttga gaattaccct tttgccccga acatgttttt
     1321 cttctccctc agtctggccc ttccttttcg caggattctt cctccctccc tctttccctc
     1381 ccttcctctt tccatctacc ctccgattgt tcctgaaccg atgagaaata aagtttctgt
     1441 tgataatcat c
//



Revised: July 5, 2002.
 
 


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1: NM_001826. Homo sapiens CDC2...[gi:4502856] Links  


LOCUS       CKS1B                    717 bp    mRNA    linear   PRI 22-OCT-2002
DEFINITION  Homo sapiens CDC28 protein kinase regulatory subunit 1B (CKS1B),
            mRNA.
ACCESSION   NM_001826
VERSION     NM_001826.1  GI:4502856
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 717)
  AUTHORS   Richardson,H.E., Stueland,C.S., Thomas,J., Russell,P. and Reed,S.I.
  TITLE     Human cDNAs encoding homologs of the small p34Cdc28/Cdc2-associated
            protein of Saccharomyces cerevisiae and Schizosaccharomyces pombe
  JOURNAL   Genes Dev. 4 (8), 1332-1344 (1990)
  MEDLINE   91032985
   PUBMED   2227411
REFERENCE   2  (bases 1 to 717)
  AUTHORS   Bourne,Y., Watson,M.H., Hickey,M.J., Holmes,W., Rocque,W.,
            Reed,S.I. and Tainer,J.A.
  TITLE     Crystal structure and mutational analysis of the human CDK2 kinase
            complex with cell cycle-regulatory protein CksHs1
  JOURNAL   Cell 84 (6), 863-874 (1996)
  MEDLINE   96182647
   PUBMED   8601310
REFERENCE   3  (bases 1 to 717)
  AUTHORS   Demetrick,D.J., Zhang,H. and Beach,D.H.
  TITLE     Chromosomal mapping of the human genes CKS1 to 8q21 and CKS2 to
            9q22
  JOURNAL   Cytogenet. Cell Genet. 73 (3), 250-254 (1996)
  MEDLINE   96302345
   PUBMED   8697818
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X54941.1.
            Summary: CKS1B protein binds to the catalytic subunit of the cyclin
            dependent kinases and is essential for their biological function.
            The CKS1B mRNA is found to be expressed in different patterns
            through the cell cycle in HeLa cells, which reflects a specialized
            role for the encoded protein.
FEATURES             Location/Qualifiers
     source          1..717
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.2"
     gene            1..717
                     /gene="CKS1B"
                     /note="CKS1; CKSHS1"
                     /db_xref="LocusID:1163"
                     /db_xref="MIM:116900"
     CDS             10..249
                     /gene="CKS1B"
                     /note="CDC2-associated protein CKS1; cell division control
                     protein CKS1; NB4 apoptosis/differentiation related
                     protein; PNAS-143; CDC28 protein kinase 1"
                     /codon_start=1
                     /product="CDC28 protein kinase 1B"
                     /protein_id="NP_001817.1"
                     /db_xref="GI:4502857"
                     /db_xref="LocusID:1163"
                     /db_xref="MIM:116900"
                     /translation="MSHKQIYYSDKYDDEEFEYRHVMLPKDIAKLVPKTHLMSESEWR
                     NLGVQQSQGWVHYMIHEPEPHILLFRRPLPKKPKK"
     misc_feature    13..207
                     /gene="CKS1B"
                     /note="CKS; Region: Cyclin-dependent kinase regulatory
                     subunit"
                     /db_xref="CDD:pfam01111"
     variation       300
                     /gene="CKS1B"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1752580"
     variation       409
                     /gene="CKS1B"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:6910"
     variation       505
                     /gene="CKS1B"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3802515"
     variation       complement(627)
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3802895"
     variation       673
                     /gene="CKS1B"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3802516"
     polyA_signal    695..700
                     /gene="CKS1B"
BASE COUNT      192 a    157 c    155 g    213 t
ORIGIN      
        1 agagcgatca tgtcgcacaa acaaatttac tattcggaca aatacgacga cgaggagttt
       61 gagtatcgac atgtcatgct gcccaaggac atagccaagc tggtccctaa aacccatctg
      121 atgtctgaat ctgaatggag gaatcttggc gttcagcaga gtcagggatg ggtccattat
      181 atgatccatg aaccagaacc tcacatcttg ctgttccggc gcccactacc caagaaacca
      241 aagaaatgaa gctggcaagc tacttttcag cctcaagctt tacacagctg tccttacttc
      301 ctaacatctt tctgataaca ttattatgtt gccttcttgt ttctcacttt gatatttaaa
      361 agatgttcaa tacactgttt gaatgtgctg gtaactgctt tgcttcttga gtagagccac
      421 caccaccata gcccagccag atgagtgctc tgtggaccca cagcctaagc tgagtgtgac
      481 cccagaagcc acgatgtgct ctgtatccag aacacacttg gcagatggag gaagcatctg
      541 agtttgagac catggctgtt acagggatca tgtaaacttg ctgtttttgt tttttctgcc
      601 gggtgttgta tgtgtggtga cttgcggatt tatgtttcag tgtactggaa actttccatt
      661 ttattcaaga aatctgttca tgttaaaagc cttgattaaa gaggaagttt ttataat
//



Revised: July 5, 2002.
 
 


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1: NM_013277. Homo sapiens Rac ...[gi:21361396] Links  


LOCUS       RACGAP1                 3237 bp    mRNA    linear   PRI 10-JUN-2002
DEFINITION  Homo sapiens Rac GTPase activating protein 1 (RACGAP1), mRNA.
ACCESSION   NM_013277
VERSION     NM_013277.2  GI:21361396
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3237)
  AUTHORS   Kawashima,T., Hirose,K., Satoh,T., Kaneko,A., Ikeda,Y., Kaziro,Y.,
            Nosaka,T. and Kitamura,T.
  TITLE     MgcRacGAP is involved in the control of growth and differentiation
            of hematopoietic cells
  JOURNAL   Blood 96 (6), 2116-2124 (2000)
  MEDLINE   20435340
   PUBMED   10979956
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AL136794.1.
            On Jun 10, 2002 this sequence version replaced gi:7019432.
FEATURES             Location/Qualifiers
     source          1..3237
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.1"
                     /clone="DKFZp434C011"
                     /tissue_type="testis"
                     /clone_lib="434 (synonym: htes3). Vector pSport1; host
                     DH10B; sites NotI + SalI"
                     /dev_stage="adult"
     gene            1..3237
                     /gene="RACGAP1"
                     /note="ID-GAP; MGCRACGAP"
                     /db_xref="LocusID:29127"
                     /db_xref="MIM:604980"
     CDS             225..2123
                     /gene="RACGAP1"
                     /note="similarity to GTPase-activating proteins; GTPase
                     activating protein"
                     /codon_start=1
                     /product="Rac GTPase activating protein 1"
                     /protein_id="NP_037409.2"
                     /db_xref="GI:21361397"
                     /db_xref="LocusID:29127"
                     /db_xref="MIM:604980"
                     /translation="MDTMMLNVRNLFEQLVRRVEILSEGNEVQFIQLAKDFEDFRKKW
                     QRTDHELGKYKDLLMKAETERSALDVKLKHARNQVDVEIKRRQRAEADCEKLERQIQL
                     IREMLMCDTSGSIQLSEEQKSALAFLNRGQPSSSNAGNKRLSTIDESGSILSDISFDK
                     TDESLDWDSSLVKTFKLKKREKRRSTSRQFVDGPPGPVKKTRSIGSAVDQGNESIVAK
                     TTVTVPNDGGPIEAVSTIETVPYWTRSRRKTGTLQPWNSDSTLNSRQLEPRTETDSVG
                     TPQSNGGMRLHDFVSKTVIKPESCVPCGKRIKFGKLSLKCRDCRVVSHPECRDRCPLP
                     CIPTLIGTPVKIGEGMLADFVSQTSPMIPSIVVHCVNEIEQRGLTETGLYRISGCDRT
                     VKELKEKFLRVKTVPLLSKVDDIHAICSLLKDFLRNLKEPLLTFRLNRAFMEAAEITD
                     EDNSIAAMYQAVGELPQANRDTLAFLMIHLQRVAQSPHTKMDVANLAKVFGPTIVAHA
                     VPNPDPVTMLQDIKRQPKVVERLLSLPLEYWSQFMMVEQENIDPLHVIENSNAFSTPQ
                     TPDIKVSLLGPVTTPEHQLLKTPSSSSLSQRVRSTLTKNTPRFGSKSKSATNLGRQGN
                     FFASPMLK"
     misc_feature    348..545
                     /gene="RACGAP1"
                     /note="Tropomyosin"
                     /db_xref="CDD:pfam00261"
     misc_feature    1083..1229
                     /gene="RACGAP1"
                     /note="DAG_PE-bind; Region: Phorbol esters/diacylglycerol
                     binding domain (C1 domain)"
                     /db_xref="CDD:pfam00130"
     misc_feature    1083..1229
                     /gene="RACGAP1"
                     /note="C1; Region: Protein kinase C conserved region 1
                     (C1) domains (Cysteine-rich domains)"
                     /db_xref="CDD:smart00109"
     misc_feature    1302..1820
                     /gene="RACGAP1"
                     /note="RhoGAP; Region: GTPase-activator protein for
                     Rho-like GTPases"
                     /db_xref="CDD:smart00324"
     misc_feature    1311..1736
                     /gene="RACGAP1"
                     /note="RhoGAP; Region: RhoGAP domain"
                     /db_xref="CDD:pfam00620"
     variation       1448
                     /gene="RACGAP1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3803173"
     variation       complement(2805)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:296738"
     variation       complement(2849)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:15192"
     variation       complement(3024)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:8987"
     polyA_site      3227
                     /gene="RACGAP1"
BASE COUNT      938 a    668 c    749 g    882 t
ORIGIN      
        1 gcgaagtgaa gggtggccca ggtggggcca ggctgactga atgtatctcc tagctatgga
       61 ctaaataata catgggggga aataaacaag tattcatgag ggtgaaaatg tgacccagca
      121 ggaaaattac aactattttc aattgacgtt gaataggatg agtcatggaa tttaagtgat
      181 ttactgaaga ttatactact ggtagataga agagctaaag aaagatggat actatgatgc
      241 tgaatgtgcg gaatctgttt gagcagcttg tgcgccgggt ggagattctc agtgaaggaa
      301 atgaagtcca atttatccag ttggcgaagg actttgagga tttccgtaaa aagtggcaga
      361 ggactgacca tgagctgggg aaatacaagg atcttttgat gaaagcagag actgagcgaa
      421 gtgctctgga tgttaagctg aagcatgcac gtaatcaggt ggatgtagag atcaaacgga
      481 gacagagagc tgaggctgac tgcgaaaagc tggaacgaca gattcagctg attcgagaga
      541 tgctcatgtg tgacacatct ggcagcattc aactaagcga ggagcaaaaa tcagctctgg
      601 cttttctcaa cagaggccaa ccatccagca gcaatgctgg gaacaaaaga ctatcaacca
      661 ttgatgaatc tggttccatt ttatcagata tcagctttga caagactgat gaatcactgg
      721 attgggactc ttctttggtg aagactttca aactgaagaa gagagaaaag aggcgctcta
      781 ctagccgaca gtttgttgat ggtccccctg gacctgtaaa gaaaactcgt tccattggct
      841 ctgcagtaga ccaggggaat gaatccatag ttgcaaaaac tacagtgact gttcccaatg
      901 atggcgggcc catcgaagct gtgtccacta ttgagactgt gccatattgg accaggagcc
      961 gaaggaaaac aggtacttta caaccttgga acagtgactc caccctgaac agcaggcagc
     1021 tggagccaag aactgagaca gacagtgtgg gcacgccaca gagtaatgga gggatgcgcc
     1081 tgcatgactt tgtttctaag acggttatta aacctgaatc ctgtgttcca tgtggaaagc
     1141 ggataaaatt tggcaaatta tctctgaagt gtcgagactg tcgtgtggtc tctcatccag
     1201 aatgtcggga ccgctgtccc cttccctgca ttcctaccct gataggaaca cctgtcaaga
     1261 ttggagaggg aatgctggca gactttgtgt cccagacttc tccaatgatc ccctccattg
     1321 ttgtgcattg tgtaaatgag attgagcaaa gaggtctgac tgagacaggc ctgtatagga
     1381 tctctggctg tgaccgcaca gtaaaagagc tgaaagagaa attcctcaga gtgaaaactg
     1441 tacccctcct cagcaaagtg gatgatatcc atgctatctg tagccttcta aaagactttc
     1501 ttcgaaacct caaagaacct cttctgacct ttcgccttaa cagagccttt atggaagcag
     1561 cagaaatcac agatgaagac aacagcatag ctgccatgta ccaagctgtt ggtgaactgc
     1621 cccaggccaa cagggacaca ttagctttcc tcatgattca cttgcagaga gtggctcaga
     1681 gtccacatac taaaatggat gttgccaatc tggctaaagt ctttggccct acaatagtgg
     1741 cccatgctgt gcccaatcca gacccagtga caatgttaca ggacatcaag cgtcaaccca
     1801 aggtggttga gcgcctgctt tccttgcctc tggagtattg gagtcagttc atgatggtgg
     1861 agcaagagaa cattgacccc ctacatgtca ttgaaaactc aaatgccttt tcaacaccac
     1921 agacaccaga tattaaagtg agtttactgg gacctgtgac cactcctgaa catcagcttc
     1981 tcaagactcc ttcatctagt tccctgtcac agagagtccg ttccaccctc accaagaaca
     2041 ctcctagatt tgggagcaaa agcaagtctg ccactaacct aggacgacaa ggcaactttt
     2101 ttgcttctcc aatgctcaag tgaagtcaca tctgcctgtt acttcccagc attgactgac
     2161 tataagaaag gacacatctg tactctgctc tgcagcctcc tgtactcatt actactttta
     2221 gcattctcca ggcttttact caagtttaat tgtgcatgag ggttttatta aaactatata
     2281 tatctcccct tccttctcct caagtcacat aatatcagca ctttgtgctg gtcattgttg
     2341 ggagctttta gatgagacat ctttccaggg gtagaagggt tagtatggaa ttggttgtga
     2401 ttctttttgg ggaagggggt tattgttcct ttggcttaaa gccaaatgct gctcatagaa
     2461 tgatctttct ctagtttcat ttagaactga tttccgtgag acaatgacag aaaccctacc
     2521 tatctgataa gattagcttg tctcagggtg ggaagtggga gggcagggca aagaaaggat
     2581 tagaccagag gatttaggat gcctccttct aagaaccaga agttctcatt ccccattatg
     2641 aactgagcta taatatggag ctttcataaa aatgggatgc attgaggaca gaactagtga
     2701 tgggagtatg cgtagctttg atttggatga ttaggtcttt aatagtgttg agtggcacaa
     2761 ccttgtaaat gtgaaagtac aactcgtatt tatctctgat gtgccgctgg ctgaactttg
     2821 ggttcatttg gggtcaaagc cagtttttct tttaaaattg aattcattct gatgcttggc
     2881 ccccataccc ccaaccttgt ccagtggagc ccaacttcta aaggtcaata tatcatcctt
     2941 tggcatccca actaacaata aagagtaggc tataagggaa gattgtcaat attttgtggt
     3001 aagaaaagct acagtcattt tttctttgca ctttggatgc tgaaattttt cccatggaac
     3061 atagccacat ctagatagat gtgagctttt tcttctgtta aaattattct taatgtctgt
     3121 aaaaacgatt ttcttctgta gaatgtttga cttcgtattg acccttatct gtaaaacacc
     3181 tatttgggat aatatttgga aaaaaagtaa atagcttttt caaaatgaaa aaaaaaa
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_005854. Homo sapiens rece...[gi:5032020] Links  


LOCUS       RAMP2                    780 bp    mRNA    linear   PRI 02-DEC-2000
DEFINITION  Homo sapiens receptor (calcitonin) activity modifying protein 2
            (RAMP2), mRNA.
ACCESSION   NM_005854
VERSION     NM_005854.1  GI:5032020
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 780)
  AUTHORS   McLatchie,L.M., Fraser,N.J., Main,M.J., Wise,A., Brown,J.,
            Thompson,N., Solari,R., Lee,M.G. and Foord,S.M.
  TITLE     RAMPs regulate the transport and ligand specificity of the
            calcitonin-receptor-like receptor
  JOURNAL   Nature 393 (6683), 333-339 (1998)
  MEDLINE   98282119
   PUBMED   9620797
REFERENCE   2  (bases 1 to 780)
  AUTHORS   Foord,S.M. and Marshall,F.H.
  TITLE     RAMPs: accessory proteins for seven transmembrane domain receptors
  JOURNAL   Trends Pharmacol. Sci. 20 (5), 184-187 (1999)
  MEDLINE   99284784
   PUBMED   10354609
REFERENCE   3  (bases 1 to 780)
  AUTHORS   Derst C, Engel H, Grzeschik K and Daut J.
  TITLE     Genomic structure and chromosome mapping of human and mouse RAMP
            genes
  JOURNAL   Cytogenet. Cell Genet. 90 (1-2), 115-118 (2000)
  MEDLINE   20515595
   PUBMED   11060459
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ001015.1.
            Summary: The protein encoded by this gene is a member of the RAMP
            family of single-transmembrane-domain proteins, called receptor
            (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I
            transmembrane proteins with an extracellular N terminus and a
            cytoplasmic C terminus. RAMPs are required to transport
            calcitonin-receptor-like receptor (CRLR) to the plasma membrane.
            CRLR, a receptor with seven transmembrane domains, can function as
            either a calcitonin-gene-related peptide (CGRP) receptor or an
            adrenomedullin receptor, depending on which members of the RAMP
            family are expressed. In the presence of this (RAMP2) protein, CRLR
            functions as an adrenomedullin receptor. The RAMP2 protein is
            involved in core glycosylation and transportation of adrenomedullin
            receptor to the cell surface.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..780
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /map="17"
     gene            1..780
                     /gene="RAMP2"
                     /db_xref="LocusID:10266"
                     /db_xref="MIM:605154"
     CDS             69..596
                     /gene="RAMP2"
                     /note="calcitonin receptor-like receptor activity
                     modifying protein 2; receptor-activity-modifying protein
                     2"
                     /codon_start=1
                     /product="receptor (calcitonin) activity modifying protein
                     2 precursor"
                     /protein_id="NP_005845.1"
                     /db_xref="GI:5032021"
                     /db_xref="LocusID:10266"
                     /db_xref="MIM:605154"
                     /translation="MASLRVERAGGPRLPRTRVGRPAAVRLLLLLGAVLNPHEALAQP
                     LPTTGTPGSEGGTVKNYETAVQFCWNHYKDQMDPIEKDWCDWAMISRPYSTLRDCLEH
                     FAELFDLGFPNPLAERIIFETHQIHFANCSLVQPTFSDPPEDVLLAMIIAPICLIPFL
                     ITLVVWRSKDSEAQA"
     sig_peptide     69..173
                     /gene="RAMP2"
     mat_peptide     174..593
                     /gene="RAMP2"
                     /product="receptor (calcitonin) activity modifying protein
                     2"
     polyA_signal    762..767
                     /gene="RAMP2"
BASE COUNT      153 a    265 c    190 g    172 t
ORIGIN      
        1 ggatataggc gcccccacac ccgggcccgg ctaagcgccg ccgccgctcc tcgcctcctt
       61 gctgcacgat ggcctcgctc cgggtggagc gcgccggcgg cccgcgtctc cctaggaccc
      121 gagtcgggcg gccggcagcc gtccgcctcc tccttctgct gggcgctgtc ctgaatcccc
      181 acgaggccct ggctcagcct cttcccacca caggcacacc agggtcagaa ggggggacgg
      241 tgaagaacta tgagacagct gtccaatttt gctggaatca ttataaggat caaatggatc
      301 ctatcgaaaa ggattggtgc gactgggcca tgattagcag gccttatagc accctgcgag
      361 attgcctgga gcactttgca gagttgtttg acctgggctt ccccaatccc ttggcagaga
      421 ggatcatctt tgagactcac cagatccact ttgccaactg ctccctggtg cagcccacct
      481 tctctgaccc cccagaggat gtactcctgg ccatgatcat agcccccatc tgcctcatcc
      541 ccttcctcat cactcttgta gtatggagga gtaaagacag tgaggcccag gcctaggggg
      601 cacgagcttc tcaacaacca tgttactcca cttccccacc cccaccaggc ctccctcctc
      661 ccctcctact cccttttctc actctcatcc ccaccacaga tccctggatt gctgggaatg
      721 gaagccaggg ttgggcatgg cacaagttct gtaatcttca aaataaaact ttttttttga
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_003999. Homo sapiens onco...[gi:4557039] Links  


LOCUS       OSMR                    4171 bp    mRNA    linear   PRI 16-MAY-2002
DEFINITION  Homo sapiens oncostatin M receptor (OSMR), mRNA.
ACCESSION   NM_003999
VERSION     NM_003999.1  GI:4557039
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4171)
  AUTHORS   Mosley,B., De Imus,C., Friend,D., Boiani,N., Thoma,B., Park,L.S.
            and Cosman,D.
  TITLE     Dual oncostatin M (OSM) receptors. Cloning and characterization of
            an alternative signaling subunit conferring OSM-specific receptor
            activation
  JOURNAL   J. Biol. Chem. 271 (51), 32635-32643 (1996)
  MEDLINE   97115791
   PUBMED   8999038
REFERENCE   2  (bases 1 to 4171)
  AUTHORS   Auguste,P., Guillet,C., Fourcin,M., Olivier,C., Veziers,J.,
            Pouplard-Barthelaix,A. and Gascan,H.
  TITLE     Signaling of type II oncostatin M receptor
  JOURNAL   J. Biol. Chem. 272 (25), 15760-15764 (1997)
  MEDLINE   97332660
   PUBMED   9188471
REFERENCE   3  (bases 1 to 4171)
  AUTHORS   Cichy,J., Rose-John,S. and Pure,E.
  TITLE     Regulation of the type II oncostatin M receptor expression in
            lung-derived epithelial cells
  JOURNAL   FEBS Lett. 429 (3), 412-416 (1998)
  MEDLINE   98324837
   PUBMED   9662460
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U60805.1.
            Summary: Oncostatin M is a member of the IL6 family of cytokines.
            Functional receptors for IL6 family cytokines are multisubunit
            complexes involving members of the hematopoietin receptor
            superfamily. Many IL6 cytokines utilize gp130 as a common receptor
            subunit. OSM binds to the gp130 receptor subunit and, in
            association with the leukemia inhibitory factor receptor, induces a
            proliferative response in permissive cells. OSMR is an alternative
            subunit (for an OSM receptor complex (a heterodimer of gp130 and
            OSMR) that is activated by OSM but not by LIF.
FEATURES             Location/Qualifiers
     source          1..4171
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.1"
     gene            1..4171
                     /gene="OSMR"
                     /note="OSMRB"
                     /db_xref="LocusID:9180"
                     /db_xref="MIM:601743"
     CDS             368..3307
                     /gene="OSMR"
                     /codon_start=1
                     /product="oncostatin M receptor"
                     /protein_id="NP_003990.1"
                     /db_xref="GI:4557040"
                     /db_xref="LocusID:9180"
                     /db_xref="MIM:601743"
                     /translation="MALFAVFQTTFFLTLLSLRTYQSEVLAERLPLTPVSLKVSTNST
                     RQSLHLQWTVHNLPYHQELKMVFQIQISRIETSNVIWVGNYSTTVKWNQVLHWSWESE
                     LPLECATHFVRIKSLVDDAKFPEPNFWSNWSSWEEVSVQDSTGQDILFVFPKDKLVEE
                     GTNVTICYVSRNIQNNVSCYLEGKQIHGEQLDPHVTAFNLNSVPFIRNKGTNIYCEAS
                     QGNVSEGMKGIVLFVSKVLEEPKDFSCETEDFKTLHCTWDPGTDTALGWSKQPSQSYT
                     LFESFSGEKKLCTHKNWCNWQITQDSQETYNFTLIAENYLRKRSVNILFNLTHRVYLM
                     NPFSVNFENVNATNAIMTWKVHSIRNNFTYLCQIELHGEGKMMQYNVSIKVNGEYFLS
                     ELEPATEYMARVRCADASHFWKWSEWSGQNFTTLEAAPSEAPDVWRIVSLEPGNHTVT
                     LFWKPLSKLHANGKILFYNVVVENLDKPSSSELHSIPAPANSTKLILDRCSYQICVIA
                     NNSVGASPASVIVISADPENKEVEEERIAGTEGGFSLSWKPQPGDVIGYVVDWCDHTQ
                     DVLGDFQWKNVGPNTTSTVISTDAFRPGVRYDFRIYGLSTKRIACLLEKKTGYSQELA
                     PSDNPHVLVDTLTSHSFTLSWKDYSTESQPGFIQGYHVYLKSKARQCHPRFEKAVLSD
                     GSECCKYKIDNPEEKALIVDNLKPESFYEFFITPFTSAGEGPSATFTKVTTPDEHSSM
                     LIHILLPMVFCVLLIMVMCYLKSQWIKETCYPDIPDPYKSSILSLIKFKENPHLIIMN
                     VSDCIPDAIEVVSKPEGTKIQFLGTRKSLTETELTKPNYLYLLPTEKNHSGPGPCICF
                     ENLTYNQAASDSGSCGHVPVSPKAPSMLGLMTSPENVLKALEKNYMNSLGEIPAGETS
                     LNYVSQLASPMFGDKDSLPTNPVEAPHCSEYKMQMAVSLRLALPPPTENSSLSSITLL
                     DPGEHYC"
     misc_feature    1982..2188
                     /gene="OSMR"
                     /note="fn3; Region: Fibronectin type III domain"
                     /db_xref="CDD:pfam00041"
     misc_feature    1982..2173
                     /gene="OSMR"
                     /note="FN3; Region: Fibronectin type 3 domain"
                     /db_xref="CDD:smart00060"
     variation       2024
                     /gene="OSMR"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2278329"
     variation       2476
                     /gene="OSMR"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2289925"
     variation       3173
                     /gene="OSMR"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3749737"
     variation       3406
                     /gene="OSMR"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1051977"
     variation       complement(3510)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1239344"
     variation       3510
                     /gene="OSMR"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3805574"
     variation       3647
                     /gene="OSMR"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:834011"
BASE COUNT     1169 a   1004 c    911 g   1087 t
ORIGIN      
        1 gggccgcctc tgcacgtccg ccccggagcc cgcacccgcg ccccacgcgc cgccgaggac
       61 tcggcccggc tcgtggagcc cttcgcccgc ggcgtgagta cccccgaccc gcccgtcccc
      121 gctctgctcg cgccctgccg ctgcgccgcc ctcggtggct tttccgacgg gcgagccccg
      181 tgctgtgcgg gaaagaatcc gacaacttcg cagcccatcc cggctggacg cgaccgggag
      241 tgcagcagcc cgttcccctc ctcggtgccg cctctgccca gcgtttgctt ggctgggcta
      301 ccacctgcgc tcggacggcg ctcggagggt cctcgccccc ggcctgccta cctgaaaacc
      361 agaactgatg gctctatttg cagtctttca gacaacattc ttcttaacat tgctgtcctt
      421 gaggacttac cagagtgaag tcttggctga acgtttacca ttgactcctg tatcacttaa
      481 agtttccacc aattctacgc gtcagagttt gcacttacaa tggactgtcc acaaccttcc
      541 ttatcatcag gaattgaaaa tggtatttca gatccagatc agtaggattg aaacatccaa
      601 tgtcatctgg gtggggaatt acagcaccac tgtgaagtgg aaccaggttc tgcattggag
      661 ctgggaatct gagctccctt tggaatgtgc cacacacttt gtaagaataa agagtttggt
      721 ggacgatgcc aagttccctg agccaaattt ctggagcaac tggagttcct gggaggaagt
      781 cagtgtacaa gattctactg gacaggatat attgttcgtt ttccctaaag ataagctggt
      841 ggaagaaggc accaatgtta ccatttgtta cgtttctagg aacattcaaa ataatgtatc
      901 ctgttatttg gaagggaaac agattcatgg agaacaactt gatccacatg taactgcatt
      961 caacttgaat agtgtgcctt tcattaggaa taaagggaca aatatctatt gtgaggcaag
     1021 tcaaggaaat gtcagtgaag gcatgaaagg catcgttctt tttgtctcaa aagtacttga
     1081 ggagcccaag gacttttctt gtgaaaccga ggacttcaag actttgcact gtacttggga
     1141 tcctgggacg gacactgcct tggggtggtc taaacaacct tcccaaagct acactttatt
     1201 tgaatcattt tctggggaaa agaaactttg tacacacaaa aactggtgta attggcaaat
     1261 aactcaagac tcacaagaaa cctataactt cacactcata gctgaaaatt acttaaggaa
     1321 gagaagtgtc aatatccttt ttaacctgac tcatcgagtt tatttaatga atccttttag
     1381 tgtcaacttt gaaaatgtaa atgccacaaa tgccatcatg acctggaagg tgcactccat
     1441 aaggaataat ttcacatatt tgtgtcagat tgaactccat ggtgaaggaa aaatgatgca
     1501 atacaatgtt tccatcaagg tgaacggtga gtacttctta agtgaactgg aacctgccac
     1561 agagtacatg gcgcgagtac ggtgtgctga tgccagccac ttctggaaat ggagtgaatg
     1621 gagtggtcag aacttcacca cacttgaagc tgctccctca gaggcccctg atgtctggag
     1681 aattgtgagc ttggagccag gaaatcatac tgtgacctta ttctggaagc cattatcaaa
     1741 actgcatgcc aatggaaaga tcctgttcta taatgtagtt gtagaaaacc tagacaaacc
     1801 atccagttca gagctccatt ccattccagc accagccaac agcacaaaac taatccttga
     1861 caggtgttcc taccaaatct gcgtcatagc caacaacagt gtgggtgctt ctcctgcttc
     1921 tgtaatagtc atctctgcag accccgaaaa caaagaggtt gaggaagaaa gaattgcagg
     1981 cacagagggt ggattctctc tgtcttggaa accccaacct ggagatgtta taggctatgt
     2041 tgtggactgg tgtgaccata cccaggatgt gctcggtgat ttccagtgga agaatgtagg
     2101 tcccaatacc acaagcacag tcattagcac agatgctttt aggccaggag ttcgatatga
     2161 cttcagaatt tatgggttat ctacaaaaag gattgcttgt ttattagaga aaaaaacagg
     2221 atactctcag gaacttgctc cttcagacaa ccctcacgtg ctggtggata cattgacatc
     2281 ccactccttc actctgagtt ggaaagatta ctctactgaa tctcaacctg gttttataca
     2341 agggtaccat gtctatctga aatccaaggc gaggcagtgc cacccacgat ttgaaaaggc
     2401 agttctttca gatggttcag aatgttgcaa atacaaaatt gacaacccgg aagaaaaggc
     2461 attgattgtg gacaacctaa agccagaatc cttctatgag tttttcatca ctccattcac
     2521 tagtgctggt gaaggcccca gtgctacgtt cacgaaggtc acgactccgg atgaacactc
     2581 ctcgatgctg attcatatcc tactgcccat ggttttctgc gtcttgctca tcatggtcat
     2641 gtgctacttg aaaagtcagt ggatcaagga gacctgttat cctgacatcc ctgaccctta
     2701 caagagcagc atcctgtcat taataaaatt caaggagaac cctcacctaa taataatgaa
     2761 tgtcagtgac tgtatcccag atgctattga agttgtaagc aagccagaag ggacaaagat
     2821 acagttccta ggcactagga agtcactcac agaaaccgag ttgactaagc ctaactacct
     2881 ttatctcctt ccaacagaaa agaatcactc tggccctggc ccctgcatct gttttgagaa
     2941 cttgacctat aaccaggcag cttctgactc tggctcttgt ggccatgttc cagtatcccc
     3001 aaaagcccca agtatgctgg gactaatgac ctcacctgaa aatgtactaa aggcactaga
     3061 aaaaaactac atgaactccc tgggagaaat cccagctgga gaaacaagtt tgaattatgt
     3121 gtcccagttg gcttcaccca tgtttggaga caaggacagt ctcccaacaa acccagtaga
     3181 ggcaccacac tgttcagagt ataaaatgca aatggcagtc tccctgcgtc ttgccttgcc
     3241 tcccccgacc gagaatagca gcctctcctc aattaccctt ttagatccag gtgaacacta
     3301 ctgctaacca gcatgccgat ttcatacctt atgctacaca gacattaaga agagcagagc
     3361 tggcaccctg tcatcaccag tggccttggt ccttaatccc agtacaattt gcaggtctgg
     3421 tttatataag accactacag tctggctagg ttaaaggcca gaggctatgg aacttaacac
     3481 tccccattgg agcaagcttg ccctagagac ggcaggatca tgggagcatg cttaccttct
     3541 gctgtttgtt ccaggctcac ctttagaaca ggagacttga gcttgaccta aggatatgca
     3601 ttaaccactc tacagactcc cactcagtac tgtacagggt ggctgtggtc ctagaagttc
     3661 agtttttact gaggaaatat ttccattaac agcaattatt atattgaagg ctttaataaa
     3721 ggccacagga gacattacta tagcatagat tgtcaaatgt aaatttactg agcgtgtttt
     3781 ataaaaaact cacaggtgtt tgaggccaaa acagatttta gacttacctt gaacggataa
     3841 gaatctatag ttcactgaca cagtaaaatt aactctgtgg gtgggggcgg ggggcatagc
     3901 tctaatctaa tatataaaat gtgtgatgaa tcaacaagat ttccacaatt cttctgtcaa
     3961 gcttactaca gtgaaagaat gggattggca agtaacttct gacttactgt cagttgtact
     4021 tctgctccat agacatcagt attctgccat catttttgat gactacctca gaacataaaa
     4081 aggaacgtat atcacataat tccagtcaca gtttttggtt cctcttttct ttcaagaact
     4141 atatataaat gacctgtttt cacgcggccg c
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

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   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene  for        
 
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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_004079. Homo sapiens cath...[gi:23110961] Links  


LOCUS       CTSS                    4100 bp    mRNA    linear   PRI 18-SEP-2002
DEFINITION  Homo sapiens cathepsin S (CTSS), mRNA.
ACCESSION   NM_004079
VERSION     NM_004079.3  GI:23110961
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4100)
  AUTHORS   Shi,G.P., Munger,J.S., Meara,J.P., Rich,D.H. and Chapman,H.A.
  TITLE     Molecular cloning and expression of human alveolar macrophage
            cathepsin S, an elastinolytic cysteine protease
  JOURNAL   J. Biol. Chem. 267 (11), 7258-7262 (1992)
  MEDLINE   92218373
   PUBMED   1373132
REFERENCE   2  (bases 1 to 4100)
  AUTHORS   Wiederanders,B., Bromme,D., Kirschke,H., von Figura,K., Schmidt,B.
            and Peters,C.
  TITLE     Phylogenetic conservation of cysteine proteinases. Cloning and
            expression of a cDNA coding for human cathepsin S
  JOURNAL   J. Biol. Chem. 267 (19), 13708-13713 (1992)
  MEDLINE   92317106
   PUBMED   1377692
REFERENCE   3  (bases 1 to 4100)
  AUTHORS   Shi,G.P., Webb,A.C., Foster,K.E., Knoll,J.H., Lemere,C.A.,
            Munger,J.S. and Chapman,H.A.
  TITLE     Human cathepsin S: chromosomal localization, gene structure, and
            tissue distribution
  JOURNAL   J. Biol. Chem. 269 (15), 11530-11536 (1994)
  MEDLINE   94209337
   PUBMED   8157683
REFERENCE   4  (bases 1 to 4100)
  AUTHORS   Fengler,A. and Brandt,W.
  TITLE     Three-dimensional structures of the cysteine proteases cathepsins K
            and S deduced by knowledge-based modelling and active site
            characteristics
  JOURNAL   Protein Eng. 11 (11), 1007-1013 (1998)
  MEDLINE   99092748
   PUBMED   9876921
REFERENCE   5  (bases 1 to 4100)
  AUTHORS   Cao,H. and Hegele,R.A.
  TITLE     Human cathepsin S gene (CTSS) promoter -25G/A polymorphism
  JOURNAL   J. Hum. Genet. 45 (2), 94-95 (2000)
  MEDLINE   20186449
   PUBMED   10721671
REFERENCE   6  (bases 1 to 4100)
  AUTHORS   Hsieh,C.S., deRoos,P., Honey,K., Beers,C. and Rudensky,A.Y.
  TITLE     A role for cathepsin L and cathepsin S in peptide generation for
            MHC class II presentation
  JOURNAL   J. Immunol. 168 (6), 2618-2625 (2002)
  MEDLINE   21881729
   PUBMED   11884425
REFERENCE   7  (bases 1 to 4100)
  AUTHORS   Gibson,D., Flannery,T., Mulligan,K., Mirakhur,M. and McCormick,D.
  TITLE     The role of the cysteine proteinase cathepsin S in astrocytoma
            invasion
  JOURNAL   Neuropathol Appl Neurobiol 28 (2), 156 (2002)
   PUBMED   11972823
REFERENCE   8  (bases 1 to 4100)
  AUTHORS   Schwarz,G., Boehncke,W.H., Braun,M., Schroter,C.J., Burster,T.,
            Flad,T., Dressel,D., Weber,E., Schmid,H. and Kalbacher,H.
  TITLE     Cathepsin S activity is detectable in human keratinocytes and is
            selectively upregulated upon stimulation with interferon-gamma
  JOURNAL   J. Invest. Dermatol. 119 (1), 44-49 (2002)
  MEDLINE   22155367
   PUBMED   12164923
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC002642.1, AL356292.21,
            BQ006623.1 and M90696.1.
            On Sep 18, 2002 this sequence version replaced gi:20070177.
            Summary: The protein encoded by this gene, a member of the
            peptidase C1 family, is a lysosomal cysteine proteinase that may
            participate in the degradation of antigenic proteins to peptides
            for presentation on MHC class II molecules. The encoded protein can
            function as an elastase over a broad pH range in alveolar
            macrophages. Transcript variants utilizing alternative
            polyadenylation signals exist for this gene.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4100
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21"
                     /clone="MGC:3886 IMAGE:3610589"
                     /clone_lib="NIH_MGC_39"
     gene            1..4100
                     /gene="CTSS"
                     /note="MGC3886"
                     /db_xref="LocusID:1520"
                     /db_xref="MIM:116845"
     CDS             134..1129
                     /gene="CTSS"
                     /EC_number="3.4.22.27"
                     /codon_start=1
                     /product="cathepsin S preproprotein"
                     /protein_id="NP_004070.3"
                     /db_xref="GI:23110962"
                     /db_xref="LocusID:1520"
                     /db_xref="MIM:116845"
                     /translation="MKRLVCVLLVCSSAVAQLHKDPTLDHHWHLWKKTYGKQYKEKNE
                     EAVRRLIWEKNLKFVMLHNLEHSMGMHSYDLGMNHLGDMTSEEVMSLMSSLRVPSQWQ
                     RNITYKSNPNRILPDSVDWREKGCVTEVKYQGSCGACWAFSAVGALEAQLKLKTGKLV
                     SLSAQNLVDCSTEKYGNKGCNGGFMTTAFQYIIDNKGIDSDASYPYKAMDQKCQYDSK
                     YRAATCSKYTELPYGREDVLKEAVANKGPVSVGVDARHPSFFLYRSGVYYEPSCTQNV
                     NHGVLVVGYGDLNGKEYWLVKNSWGHNFGEEGYIRMARNKGNHCGIASFPSYPEI"
     sig_peptide     134..181
                     /gene="CTSS"
     mat_peptide     476..1126
                     /gene="CTSS"
                     /product="cathepsin S"
     misc_feature    476..1120
                     /gene="CTSS"
                     /note="Region: pfam00112, Peptidase_C1, Papain family
                     cysteine protease"
     misc_feature    476..1120
                     /gene="CTSS"
                     /note="Region: smart00645, Pept_C1, Papain family cysteine
                     protease"
     misc_feature    182..1126
                     /gene="CTSS"
                     /note="cathepsin S proprotein"
     polyA_signal    1770..1775
                     /gene="CTSS"
     polyA_site      1793
                     /gene="CTSS"
                     /evidence=experimental
     polyA_signal    3958..3963
                     /gene="CTSS"
     polyA_signal    3962..3967
                     /gene="CTSS"
     polyA_site      3979
                     /gene="CTSS"
                     /evidence=experimental
     polyA_signal    4071..4076
                     /gene="CTSS"
     polyA_site      4100
                     /gene="CTSS"
                     /evidence=experimental
BASE COUNT     1280 a    798 c    815 g   1207 t
ORIGIN      
        1 gtacctcatg tgacaagttc caatttcttt tcaagtcaat tgaactgaaa tctccttgtt
       61 gctttgaaat cttagaagag agcccactaa ttcaaggact cttactgtgg gagcaactgc
      121 tggttctatc acaatgaaac ggctggtttg tgtgctcttg gtgtgctcct ctgcagtggc
      181 acagttgcat aaagatccta ccctggatca ccactggcat ctctggaaga aaacctatgg
      241 caaacaatac aaggaaaaga atgaagaagc agtacgacgt ctcatctggg aaaagaatct
      301 aaagtttgtg atgcttcaca acctggagca ttcaatggga atgcactcat acgatctggg
      361 catgaaccac ctgggagaca tgaccagtga agaagtgatg tctttgatga gttccctgag
      421 agttcccagc cagtggcaga gaaatatcac atataagtca aaccctaatc ggatattgcc
      481 tgattctgtg gactggagag agaaagggtg tgttactgaa gtgaaatatc aaggttcttg
      541 tggtgcttgc tgggctttca gtgctgtggg ggccctggaa gcacagctga agctgaaaac
      601 aggaaagctg gtgtctctca gtgcccagaa cctggtggat tgctcaactg aaaaatatgg
      661 aaacaaaggc tgcaatggtg gcttcatgac aacggctttc cagtacatca ttgataacaa
      721 gggcatcgac tcagacgctt cctatcccta caaagccatg gatcagaaat gtcaatatga
      781 ctcaaaatat cgtgctgcca catgttcaaa gtacactgaa cttccttatg gcagagaaga
      841 tgtcctgaaa gaagctgtgg ccaataaagg cccagtgtct gttggtgtag atgcgcgtca
      901 tccttctttc ttcctctaca gaagtggtgt ctactatgaa ccatcctgta ctcagaatgt
      961 gaatcatggt gtacttgtgg ttggctatgg tgatcttaat gggaaagaat actggcttgt
     1021 gaaaaacagc tggggccaca actttggtga agaaggatat attcggatgg caagaaataa
     1081 aggaaatcat tgtgggattg ctagctttcc ctcttaccca gaaatctaga ggatctctcc
     1141 tttttataac aaatcaagaa atatgaagca ctttctctta acttaatttt tcctgctgta
     1201 tccagaagaa ataattgtgt catgattaat gtgtatttac tgtactaatt agaaaatata
     1261 gtttgaggcc gggcacggtg gctcacgcct gtaatcccag tacttgggag gccaaggcag
     1321 gcatatcaac ttgaggccag gagttaaaga gcagcctggc taacatggtg aaaccccatc
     1381 tctactaaaa atacaaaaaa ttagccgagc acggtggtgc atgcctgtaa tcccagctac
     1441 ttgggaggct gaggcacgag attccttgaa cccaagaggt tgaggctatg ttgagctgag
     1501 atcacaccac tgtactccag cctggatgac agagtggaga ctctgtttca aaaaaacaga
     1561 aaagaaaata tagtttgatt cttcattttt ttaaatttgc aaatctcagg ataaagtttg
     1621 ctaagtaaat tagtaatgta ctatagatat aactgtacaa aaattgttca acctaaaaca
     1681 atctgtaatt gcttattgtt ttattgtata ctctttgtct ttttaagacc cctaatagcc
     1741 ttttgtaact tgatggctta aaaatactta ataaatctgc catttcaaat ttctatcatt
     1801 gccacatacc attcttattc ctaggcaact attaataatc tatcctgaga atattaattg
     1861 tggtattctg gtgatggggt ttagcaactt tgatggaaga aaatattagg ctataaatgt
     1921 cctaaggact cagattgtat ctttgtacag aagaggattc aaaacgccac gtgtagtggc
     1981 tcatgcctgt aatcccaaca ctttgggagg ctgaagtagg aggatcgtct tgagcccagg
     2041 agttcaagac cagcctggac aacatagtga gaccttgtct ccacaaaaat aaaaaagaaa
     2101 ctatccagga gtggtggtgt gtgcctgtgg tccctgctat gcagatgtct aagacaggag
     2161 gatcacaaga gcccaggagg ttgagaatgc agtgagcttg taattgcacc actgcactcc
     2221 agcctgggtg acagagcaag accctgtctt aaaaaaagag gattcaacac atatttttat
     2281 attatgttaa agtaaagaaa tgcataaaag acaagcactt tggaagaatt attttaatga
     2341 tcaacaattt aatgtattag tccaaattat ttttacgtag tcatcaacaa tttgaccagg
     2401 gcctttattt ggcaaataac tgagccaacc agaataaaat aaccaatact ccactgctca
     2461 tatttttatc taattcagat ggatcttcct tacaactgct ctagattagt agatgcatct
     2521 aagcaggcag caggaacttt aaatttttta agttcatgtc tatgacatga acaatgtgtg
     2581 ggataatgtc attaatatat cctaaattaa cctaaacgta tttcactaac tctggctcct
     2641 tctccataaa gcacatttta aggaacaaga attgctaaat ataaaaacat aaataatacc
     2701 ataatacatg gctatcatca aaagtgtata gaatattata gtttaaaagt atttagttga
     2761 ttacttttca gttttgtttt gttttttgag acggagtctc actctgttgc ccaggctgga
     2821 gtgcagtggc accatctcag ttcactgcaa cttctgcctc ccgagttcaa gcgattctcc
     2881 tgcctcagcc tcccgagtag ctggaattat aggcgtgcac caccacgccc agctaatttt
     2941 tgtattttta gtaaagacag ggttttgcca cattagccag gctggtctca aactcctgac
     3001 ctcaggtgat ccacccaccc cagcctccca aagtgctaag attacaggcg tgagccactg
     3061 agcccagcct acttttcagt ttttaacata atttttgttt tatccacaac ttttcaagta
     3121 ttgaaagtag aataaaaaca tgggttctta gtctttagct atctgttaaa gcctatgaat
     3181 gccttcttaa aatcatgttt ttaaatgcat aaaatatata ggattacaaa ggaatctaat
     3241 tatatcgaaa tacagttatt aaaatgttaa aagataagtt tgttatatat taatatgcat
     3301 gcttctttat aaatgcatta aataagagtt aatagctatc ctaaatttga aatagtgata
     3361 agcataatga aaatagatgc aaaaaactaa tgtgatatga aaatatctgg gtttttcttt
     3421 tgatgatgaa gtattgctaa tattaccgtg gtttatgaac tatgttcaga attgaagaaa
     3481 atcctaactt tcagttagag gttagtgacg gggttcagga caccctacac aaaatacagc
     3541 actttgacat attgaatatt ttaagctgaa ggcatttgag gaaattgcag aagcaggaag
     3601 gtgactctga ccttctgcct gctgttctcc ccagaagcag ccataaaacc tgggaaggat
     3661 tttctgacct tcccctgaag tagatcataa gactgtcatg taagaggtgc tctcctggca
     3721 cccagagaaa aggagcatcc ttacctccaa aagcacaggg acacaaagag gaatctaaac
     3781 aaacaggcct ctcagtttcc cccagtttat tacatttagc ttgttcacac tttgccctat
     3841 gacatttcta catcactggc tgctcttcat caaacctact ataaaaaaca ttcaagttca
     3901 actgtttctt tgggccttta tttccttatg gagcccctcg tgtcgtgtaa aacttatatt
     3961 aaataaatgt gcatgctttt ctcttgctaa tctctctttt gttatagaga tctcagccct
     4021 aaacctagga tggatagaag gaaacatatg ttctccccta cattagtaaa aataaaaatg
     4081 gaatttttta cccatacaaa 
//



Revised: July 5, 2002.
 
 


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1: NM_003816. Homo sapiens a di...[gi:4501914] Links  


LOCUS       ADAM9                   3865 bp    mRNA    linear   PRI 26-JUN-2002
DEFINITION  Homo sapiens a disintegrin and metalloproteinase domain 9 (meltrin
            gamma) (ADAM9), mRNA.
ACCESSION   NM_003816
VERSION     NM_003816.1  GI:4501914
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3865)
  AUTHORS   Nomura,N., Miyajima,N., Sazuka,T., Tanaka,A., Kawarabayasi,Y.,
            Sato,S., Nagase,T., Seki,N., Ishikawa,K. and Tabata,S.
  TITLE     Prediction of the coding sequences of unidentified human genes. I.
            The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by
            analysis of randomly sampled cDNA clones from human immature
            myeloid cell line KG-1
  JOURNAL   DNA Res. 1 (1), 27-35 (1994)
  MEDLINE   96051387
   PUBMED   7584026
REFERENCE   2  (bases 1 to 3865)
  AUTHORS   Nomura,N., Miyajima,N., Sazuka,T., Tanaka,A., Kawarabayasi,Y.,
            Sato,S., Nagase,T., Seki,N., Ishikawa,K. and Tabata,S.
  TITLE     Prediction of the coding sequences of unidentified human genes. I.
            The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by
            analysis of randomly sampled cDNA clones from human immature
            myeloid cell line KG-1 (supplement)
  JOURNAL   DNA Res. 1 (1), 47-56 (1994)
  MEDLINE   96051389
   PUBMED   7584028
REFERENCE   3  (bases 1 to 3865)
  AUTHORS   Weskamp,G., Kratzschmar,J., Reid,M.S. and Blobel,C.P.
  TITLE     MDC9, a widely expressed cellular disintegrin containing
            cytoplasmic SH3 ligand domains
  JOURNAL   J. Cell Biol. 132 (4), 717-726 (1996)
  MEDLINE   96178079
   PUBMED   8647900
REFERENCE   4  (bases 1 to 3865)
  AUTHORS   Izumi,Y., Hirata,M., Hasuwa,H., Iwamoto,R., Umata,T., Miyado,K.,
            Tamai,Y., Kurisaki,T., Sehara-Fujisawa,A., Ohno,S. and Mekada,E.
  TITLE     A metalloprotease-disintegrin, MDC9/meltrin-gamma/ADAM9 and
            PKCdelta are involved in TPA-induced ectodomain shedding of
            membrane-anchored heparin-binding EGF-like growth factor
  JOURNAL   EMBO J. 17 (24), 7260-7272 (1998)
  MEDLINE   99077794
   PUBMED   9857183
REFERENCE   5  (bases 1 to 3865)
  AUTHORS   Roghani,M., Becherer,J.D., Moss,M.L., Atherton,R.E.,
            Erdjument-Bromage,H., Arribas,J., Blackburn,R.K., Weskamp,G.,
            Tempst,P. and Blobel,C.P.
  TITLE     Metalloprotease-disintegrin MDC9: intracellular maturation and
            catalytic activity
  JOURNAL   J. Biol. Chem. 274 (6), 3531-3540 (1999)
  MEDLINE   99121091
   PUBMED   9920899
REFERENCE   6  (bases 1 to 3865)
  AUTHORS   Howard,L., Nelson,K.K., Maciewicz,R.A. and Blobel,C.P.
  TITLE     Interaction of the metalloprotease disintegrins MDC9 and MDC15 with
            two SH3 domain-containing proteins, endophilin I and SH3PX1
  JOURNAL   J. Biol. Chem. 274 (44), 31693-31699 (1999)
  MEDLINE   20002705
   PUBMED   10531379
REFERENCE   7  (bases 1 to 3865)
  AUTHORS   Nelson,K.K., Schlondorff,J. and Blobel,C.P.
  TITLE     Evidence for an interaction of the metalloprotease-disintegrin
            tumour necrosis factor alpha convertase (TACE) with mitotic arrest
            deficient 2 (MAD2), and of the metalloprotease-disintegrin MDC9
            with a novel MAD2-related protein, MAD2beta
  JOURNAL   Biochem. J. 343 Pt 3, 673-680 (1999)
  MEDLINE   99458684
   PUBMED   10527948
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U41766.1.
            Summary: This gene encodes disintegrin and metalloprotease (ADAM)
            domain 9, which is a member of the ADAM protein family. Members of
            this family are membrane-anchored proteins structurally related to
            snake venom disintegrins, and have been implicated in a variety of
            biologic processes involving  cell-cell and cell-matrix
            interactions, including fertilization, muscle development, and
            neurogenesis. The member encoded by this gene interacts with SH3
            domain-containing proteins, binds mitotic arrest deficient 2 beta
            protein, and is also involved in TPA-induced ectodomain shedding of
            membrane-anchored heparin-binding EGF-like growth factor.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3865
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.21"
     gene            1..3865
                     /gene="ADAM9"
                     /note="MCMP; MDC9; MLTNG; KIAA0021"
                     /db_xref="LocusID:8754"
                     /db_xref="MIM:602713"
     CDS             79..2538
                     /gene="ADAM9"
                     /note="meltrin gamma"
                     /codon_start=1
                     /product="a disintegrin and metalloproteinase domain 9
                     preproprotein"
                     /protein_id="NP_003807.1"
                     /db_xref="GI:4501915"
                     /db_xref="LocusID:8754"
                     /db_xref="MIM:602713"
                     /translation="MGSGARFPSGTLRVRWLLLLGLVGPVLGAARPGFQQTSHLSSYE
                     IITPWRLTRERREAPRPYSKQVSYVIQAEGKEHIIHLERNKDLLPEDFVVYTYNKEGT
                     LITDHPNIQNHCHYRGYVEGVHNSSIALSDCFGLRGLLHLENASYGIEPLQNSSHFEH
                     IIYRMDDVYKEPLKCGVSNKDIEKETAKDEEEEPPSMTQLLRRRRAVLPQTRYVELFI
                     VVDKERYDMMGRNQTAVREEMILLANYLDSMYIMLNIRIVLVGLEIWTNGNLINIVGG
                     AGDVLGNFVQWREKFLITRRRHDSAQLVLKKGFGGTAGMAFVGTVCSRSHAGGINVFG
                     QITVETFASIVAHELGHNLGMNHDDGRDCSCGAKSCIMNSGASGSRNFSSCSAEDFEK
                     LTLNKGGNCLLNIPKPDEAYSAPSCGNKLVDAGEECDCGTPKECELDPCCEGSTCKLK
                     SFAECAYGDCCKDCRFLPGGTLCRGKTSECDVPEYCNGSSQFCQPDVFIQNGYPCQNN
                     KAYCYNGMCQYYDAQCQVIFGSKAKAAPKDCFIEVNSKGDRFGNCGFSGNEYKKCATG
                     NALCGKLQCENVQEIPVFGIVPAIIQTPSRGTKCWGVDFQLGSDVPDPGMVNEGTKCG
                     AGKICRNFQCVDASVLNYDCDVQKKCHGHGVCNSNKNCHCENGWAPPNCETKGYGGSV
                     DSGPTYNEMNTALRDGLLVFFFLIVPLIVCAIFIFIKRDQLWRSYFRKKRSQTYESDG
                     KNQANPSRQPGSVPRHVSPVTPPREVPIYANRFAVPTYAAKQPQQFPSRPPPPQPKVS
                     SQGNLIPARPAPAPPLYSSLT"
     sig_peptide     79..165
                     /gene="ADAM9"
     mat_peptide     316..2535
                     /gene="ADAM9"
                     /product="a disintegrin and metalloproteinase domain 9"
     misc_feature    316..606
                     /gene="ADAM9"
                     /note="Region: pfam01562, Pep_M12B_propep, Reprolysin
                     family propeptide. This region is the propeptide for
                     members of peptidase family M12B. The propeptide contains
                     a sequence motif similar to the 'cysteine switch' of the
                     matrixins. This motif is found at the C terminus of the
                     alignment but is not well aligned"
     misc_feature    694..1314
                     /gene="ADAM9"
                     /note="Region: metalloproteinase domain"
     misc_feature    712..1296
                     /gene="ADAM9"
                     /note="Region: pfam01421, Reprolysin (M12B) family zinc
                     metalloprotease. The members of this family are enzymes
                     that cleave peptides. These proteases require zinc for
                     catalysis. Members of this family are also known as
                     adamalysins. Most members of this family are snake venom
                     endopeptidases, but there are also some mammalian proteins
                     and fertilin. Fertilin and closely related proteins appear
                     to not have some active site residues and may not be
                     active enzymes"
     misc_feature    1042..1164
                     /gene="ADAM9"
                     /note="Region: smart00235, ZnMc, Zinc-dependent
                     metalloprotease; Neutral zinc metallopeptidases. This
                     alignment represents a subset of known subfamilies.
                     Highest similarity occurs in the HExxH zinc-binding site/
                     active site"
     misc_feature    1345..1572
                     /gene="ADAM9"
                     /note="Region: smart00050, DISIN, Homologues of snake
                     disintegrins ; Snake disintegrins inhibit the binding of
                     ligands to integrin receptors. They contain a 'RGD'
                     sequence, identical to the recognition site of many
                     adhesion proteins. Molecules containing both disintegrin
                     and metalloprotease domains are known as ADAMs"
     misc_feature    1351..1572
                     /gene="ADAM9"
                     /note="Region: pfam00200, disintegrin, Disintegrin"
     misc_feature    1576..1989
                     /gene="ADAM9"
                     /note="Region: smart00608, ACR, ADAM Cysteine-Rich Domain"
     misc_feature    1588..2007
                     /gene="ADAM9"
                     /note="Region: cysteine-rich domain"
     misc_feature    2008..2097
                     /gene="ADAM9"
                     /note="Region: EGF-like domain"
     misc_feature    2173..2232
                     /gene="ADAM9"
                     /note="Region: transmembrane domain"
     misc_feature    2233..2535
                     /gene="ADAM9"
                     /note="Region: cytoplasmic domain"
     misc_feature    1316..1588
                     /gene="ADAM9"
                     /note="encodes the disintegrin domain"
     misc_feature    2174..2233
                     /gene="ADAM9"
                     /note="encodes the transmembrane domain"
     variation       3657
                     /gene="ADAM9"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1802884"
     variation       3691
                     /gene="ADAM9"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1126850"
     polyA_signal    3819..3824
                     /gene="ADAM9"
     polyA_site      3839
                     /gene="ADAM9"
     variation       3839
                     /gene="ADAM9"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3211321"
BASE COUNT     1201 a    670 c    842 g   1152 t
ORIGIN      
        1 cggcagggtt ggaaaatgat ggaagaggcg gaggtggagg cgaccgagtg ctgagaggaa
       61 cctgcggaat cggccgagat ggggtctggc gcgcgctttc cctcggggac ccttcgtgtc
      121 cggtggttgc tgttgcttgg cctggtgggc ccagtcctcg gtgcggcgcg gccaggcttt
      181 caacagacct cacatctttc ttcttatgaa attataactc cttggagatt aactagagaa
      241 agaagagaag cccctaggcc ctattcaaaa caagtatctt atgttattca ggctgaagga
      301 aaagagcata ttattcactt ggaaaggaac aaagaccttt tgcctgaaga ttttgtggtt
      361 tatacttaca acaaggaagg gactttaatc actgaccatc ccaatataca gaatcattgt
      421 cattatcggg gctatgtgga gggagttcat aattcatcca ttgctcttag cgactgtttt
      481 ggactcagag gattgctgca tttagagaat gcgagttatg ggattgaacc cctgcagaac
      541 agctctcatt ttgagcacat catttatcga atggatgatg tctacaaaga gcctctgaaa
      601 tgtggagttt ccaacaagga tatagagaaa gaaactgcaa aggatgaaga ggaagagcct
      661 cccagcatga ctcagctact tcgaagaaga agagctgtct tgccacagac ccggtatgtg
      721 gagctgttca ttgtcgtaga caaggaaagg tatgacatga tgggaagaaa tcagactgct
      781 gtgagagaag agatgattct cctggcaaac tacttggata gtatgtatat tatgttaaat
      841 attcgaattg tgctagttgg actggagatt tggaccaatg gaaacctgat caacatagtt
      901 gggggtgctg gtgatgtgct ggggaacttc gtgcagtggc gggaaaagtt tcttatcaca
      961 cgtcggagac atgacagtgc acagctagtt ctaaagaaag gttttggtgg aactgcagga
     1021 atggcatttg tgggaacagt gtgttcaagg agccacgcag gcgggattaa tgtgtttgga
     1081 caaatcactg tggagacatt tgcttccatt gttgctcatg aattgggtca taatcttgga
     1141 atgaatcacg atgatgggag agattgttcc tgtggagcaa agagctgcat catgaattca
     1201 ggagcatcgg gttccagaaa ctttagcagt tgcagtgcag aggactttga gaagttaact
     1261 ttaaataaag gaggaaactg ccttcttaat attccaaagc ctgatgaagc ctatagtgct
     1321 ccctcctgtg gtaataagtt ggtggacgct ggggaagagt gtgactgtgg tactccaaag
     1381 gaatgtgaat tggacccttg ctgcgaagga agtacctgta agcttaaatc atttgctgag
     1441 tgtgcatatg gtgactgttg taaagactgt cggttccttc caggaggtac tttatgccga
     1501 ggaaaaacca gtgagtgtga tgttccagag tactgcaatg gttcttctca gttctgtcag
     1561 ccagatgttt ttattcagaa tggatatcct tgccagaata acaaagccta ttgctacaac
     1621 ggcatgtgcc agtattatga tgctcaatgt caagtcatct ttggctcaaa agccaaggct
     1681 gcccccaaag attgtttcat tgaagtgaat tctaaaggtg acagatttgg caattgtggt
     1741 ttctctggca atgaatacaa gaagtgtgcc actgggaatg ctttgtgtgg aaagcttcag
     1801 tgtgagaatg tacaagagat acctgtattt ggaattgtgc ctgctattat tcaaacgcct
     1861 agtcgaggca ccaaatgttg gggtgtggat ttccagctag gatcagatgt tccagatcct
     1921 gggatggtta acgaaggcac aaaatgtggt gctggaaaga tctgtagaaa cttccagtgt
     1981 gtagatgctt ctgttctgaa ttatgactgt gatgttcaga aaaagtgtca tggacatggg
     2041 gtatgtaata gcaataagaa ttgtcactgt gaaaatggct gggctccccc aaattgtgag
     2101 actaaaggat acggaggaag tgtggacagt ggacctacat acaatgaaat gaatactgca
     2161 ttgagggacg gacttctggt cttcttcttc ctaattgttc cccttattgt ctgtgctatt
     2221 tttatcttca tcaagaggga tcaactgtgg agaagctact tcagaaagaa gagatcacaa
     2281 acatatgagt cagatggcaa aaatcaagca aacccttcta gacagccggg gagtgttcct
     2341 cgacatgttt ctccagtgac acctcccaga gaagttccta tatatgcaaa cagatttgca
     2401 gtaccaacct atgcagccaa gcaacctcag cagttcccat caaggccacc tccaccacaa
     2461 ccgaaagtat catctcaggg aaacttaatt cctgcccgtc ctgctcctgc acctccttta
     2521 tatagttccc tcacttgatt tttttaacct tctttttgca aatgtcttca gggaactgag
     2581 ctaatacttt ttttttttct tgatgttttc ttgaaaagcc tttctgttgc aactatgaat
     2641 gaaaacaaaa caccacaaaa cagacttcac taacacagaa aaacagaaac tgagtgtgag
     2701 agttgtgaaa tacaaggaaa tgcagtaaag ccagggaatt tacaataaca tttccgtttc
     2761 catcattgaa taagtcttat tcagtcatcg gtgaggttaa tgcactaatc atggattttt
     2821 tgaacatgtt attgcagtga ttctcaaatt aactgtattg gtgtaagatt tttgtcatta
     2881 agtgtttaag tgttattctg aattttctac cttagttatc attaatgtag ttcctcattg
     2941 aacatgtgat aatctaatac ctgtgaaaac tgactaatca gctgccaata atatctaata
     3001 tttttcatca tgcacgaatt aataatcatc atactctaga atcttgtctg tcactcacta
     3061 catgaataag caaatattgt cttcaaaaga atgcacaaga accacaatta agatgtcata
     3121 ttattttgaa agtacaaaat atactaaaag agtgtgtgtg tattcacgca gttactcgct
     3181 tccattttta tgacctttca actataggta ataactctta gagaaattaa tttaatatta
     3241 gaatttctat tatgaatcat gtgaaagcat gacattcgtt cacaatagca ctattttaaa
     3301 taaattataa gctttaaggt acgaagtatt taatagatct aatcaaatat gttgattcat
     3361 ggctataata aagcaggagc aattataaaa tcttcaatca attgaacttt tacaaaacca
     3421 cttgagaatt tcatgagcac tttaaaatct gaactttcaa agcttgctat taaatcattt
     3481 agaatgttta catttactaa ggtgtgctgg gtcatgtaaa atattagaca ctaatatttt
     3541 catagaaatt aggctggaga aagaaggaag aaatggtttt cttaaatacc tacaaaaaag
     3601 ttactgtggt atctatgagt tatcatctta gctgtgttaa aaatgaattt ttactatggc
     3661 agatatggta tggatcgtaa aattttaagc actaaaaatt ttttcataac ctttcataat
     3721 aaagtttaat aataggttta ttaactgaat ttcattagtt ttttaaaagt gtttttggtt
     3781 tgtgtatata tacatataca aatacaacat ttacaataaa taaaatactt gaaattctca
     3841 aaaaaaaaaa aaaaaaaaaa aaaaa
//



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1: NM_002964. Homo sapiens S100...[gi:21614543] Links  


LOCUS       S100A8                   428 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens S100 calcium binding protein A8 (calgranulin A)
            (S100A8), mRNA.
ACCESSION   NM_002964
VERSION     NM_002964.3  GI:21614543
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 428)
  AUTHORS   Dorin,J.R., Novak,M., Hill,R.E., Brock,D.J., Secher,D.S. and van
            Heyningen,V.
  TITLE     A clue to the basic defect in cystic fibrosis from cloning the CF
            antigen gene
  JOURNAL   Nature 326 (6113), 614-617 (1987)
  MEDLINE   87173041
   PUBMED   3561500
REFERENCE   2  (bases 1 to 428)
  AUTHORS   Odink,K., Cerletti,N., Bruggen,J., Clerc,R.G., Tarcsay,L.,
            Zwadlo,G., Gerhards,G., Schlegel,R. and Sorg,C.
  TITLE     Two calcium-binding proteins in infiltrate macrophages of
            rheumatoid arthritis
  JOURNAL   Nature 330 (6143), 80-82 (1987)
  MEDLINE   88039099
   PUBMED   3313057
REFERENCE   3  (bases 1 to 428)
  AUTHORS   Lagasse,E. and Clerc,R.G.
  TITLE     Cloning and expression of two human genes encoding calcium-binding
            proteins that are regulated during myeloid differentiation
  JOURNAL   Mol. Cell. Biol. 8 (6), 2402-2410 (1988)
  MEDLINE   88302148
   PUBMED   3405210
REFERENCE   4  (bases 1 to 428)
  AUTHORS   Dorin,J.R., Emslie,E. and van Heyningen,V.
  TITLE     Related calcium-binding proteins map to the same subregion of
            chromosome 1q and to an extended region of synteny on mouse
            chromosome 3
  JOURNAL   Genomics 8 (3), 420-426 (1990)
  MEDLINE   91139109
   PUBMED   2149559
REFERENCE   5  (bases 1 to 428)
  AUTHORS   Engelkamp,D., Schafer,B.W., Mattei,M.G., Erne,P. and Heizmann,C.W.
  TITLE     Six S100 genes are clustered on human chromosome 1q21:
            identification of two genes coding for the two previously
            unreported calcium-binding proteins S100D and S100E
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 90 (14), 6547-6551 (1993)
  MEDLINE   93342029
   PUBMED   8341667
REFERENCE   6  (bases 1 to 428)
  AUTHORS   Schafer,B.W., Wicki,R., Engelkamp,D., Mattei,M.G. and Heizmann,C.W.
  TITLE     Isolation of a YAC clone covering a cluster of nine S100 genes on
            human chromosome 1q21: rationale for a new nomenclature of the S100
            calcium-binding protein family
  JOURNAL   Genomics 25 (3), 638-643 (1995)
  MEDLINE   95278932
   PUBMED   7759097
REFERENCE   7  (bases 1 to 428)
  AUTHORS   Schafer,B.W. and Heizmann,C.W.
  TITLE     The S100 family of EF-hand calcium-binding proteins: functions and
            pathology
  JOURNAL   Trends Biochem. Sci. 21 (4), 134-140 (1996)
  MEDLINE   96273192
   PUBMED   8701470
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Y00278.1 and A12027.1.
            On Jun 26, 2002 this sequence version replaced gi:9845519.
            Summary: The protein encoded by this gene is a member of the S100
            family of proteins containing 2 EF-hand calcium-binding motifs.
            S100 proteins are localized in the cytoplasm and/or nucleus of a
            wide range of cells, and involved in the regulation of a number of
            cellular processes such as cell cycle progression and
            differentiation. S100 genes include at least 13 members which are
            located as a cluster on chromosome 1q21. This protein may function
            in the inhibition of casein kinase and as a cytokine. Altered
            expression of this protein is associated with the disease cystic
            fibrosis.
FEATURES             Location/Qualifiers
     source          1..428
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21"
     gene            1..428
                     /gene="S100A8"
                     /note="P8; MIF; NIF; CAGA; CFAG; CGLA; L1Ag; MRP8; CP-10;
                     MA387; 60B8AG"
                     /db_xref="LocusID:6279"
                     /db_xref="MIM:123885"
     CDS             56..337
                     /gene="S100A8"
                     /note="calgranulin A; cystic fibrosis antigen"
                     /codon_start=1
                     /product="S100 calcium-binding protein A8"
                     /protein_id="NP_002955.2"
                     /db_xref="GI:21614544"
                     /db_xref="LocusID:6279"
                     /db_xref="MIM:123885"
                     /translation="MLTELEKALNSIIDVYHKYSLIKGNFHAVYRDDLKKLLETECPQ
                     YIRKKGADVWFKELDINTDGAVNFQEFLILVIKMGVAAHKKSHEESHKE"
     misc_feature    68..199
                     /gene="S100A8"
                     /note="Region: pfam01023, S_100, S-100/ICaBP type calcium
                     binding domain. The S-100 domain is a subfamily of the
                     EF-hand calcium binding proteins"
     misc_feature    113..154
                     /gene="S100A8"
                     /note="Region: Calcium binding region"
     misc_feature    230..268
                     /gene="S100A8"
                     /note="Region: Calcium binding region"
     polyA_signal    388..393
                     /gene="S100A8"
     polyA_site      407
                     /gene="S100A8"
BASE COUNT      139 a     91 c    106 g     92 t
ORIGIN      
        1 atgtctcttg tcagctgtct ttcagaagac ctggtggggc aagtccgtgg gcatcatgtt
       61 gaccgagctg gagaaagcct tgaactctat catcgacgtc taccacaagt actccctgat
      121 aaaggggaat ttccatgccg tctacaggga tgacctgaag aaattgctag agaccgagtg
      181 tcctcagtat atcaggaaaa agggtgcaga cgtctggttc aaagagttgg atatcaacac
      241 tgatggtgca gttaacttcc aggagttcct cattctggtg ataaagatgg gcgtggcagc
      301 ccacaaaaaa agccatgaag aaagccacaa agagtagctg agttactggg cccagaggct
      361 gggcccctgg acatgtacct gcagaataat aaagtcatca atacctcaaa aaaaaaaaaa
      421 aaaaaaaa
//



Revised: July 5, 2002.
 
 


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1: NM_001412. Homo sapiens euka...[gi:4503498] Links  


LOCUS       EIF1A                   1202 bp    mRNA    linear   PRI 04-AUG-2002
DEFINITION  Homo sapiens eukaryotic translation initiation factor 1A (EIF1A),
            mRNA.
ACCESSION   NM_001412
VERSION     NM_001412.1  GI:4503498
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1202)
  AUTHORS   Dever,T.E., Wei,C.L., Benkowski,L.A., Browning,K., Merrick,W.C. and
            Hershey,J.W.
  TITLE     Determination of the amino acid sequence of rabbit, human, and
            wheat germ protein synthesis factor eIF-4C by cloning and chemical
            sequencing
  JOURNAL   J. Biol. Chem. 269 (5), 3212-3218 (1994)
  MEDLINE   94148809
   PUBMED   8106356
REFERENCE   2  (bases 1 to 1202)
  AUTHORS   Lahn,B.T. and Page,D.C.
  TITLE     Functional coherence of the human Y chromosome
  JOURNAL   Science 278 (5338), 675-680 (1997)
  MEDLINE   98022381
   PUBMED   9381176
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from L18960.1.
FEATURES             Location/Qualifiers
     source          1..1202
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="X"
                     /note="subject has leukemia"
     gene            1..1202
                     /gene="EIF1A"
                     /note="EIF4C; EIF-1A; EIF-4C; EIF1AX"
                     /db_xref="LocusID:1964"
                     /db_xref="MIM:300186"
     CDS             208..642
                     /gene="EIF1A"
                     /codon_start=1
                     /product="eukaryotic translation initiation factor 4C"
                     /protein_id="NP_001403.1"
                     /db_xref="GI:4503499"
                     /db_xref="LocusID:1964"
                     /db_xref="MIM:300186"
                     /translation="MPKNKGKGGKNRRRGKNENESEKRELVFKEDGQEYAQVIKMLGN
                     GRLEAMCFDGVKRLCHIRGKLRKKVWINTSDIILVGLRDYQDNKADVILKYNADEARS
                     LKAYGELPEHAKINETDTFGPGDDDEIQFDDIGDDDEDIDDI"
     misc_feature    283..546
                     /gene="EIF1A"
                     /note="Region: pfam01176, eIF-1a, Eukaryotic initiation
                     factor 1A"
     misc_feature    289..537
                     /gene="EIF1A"
                     /note="Region: smart00652, eIF1a, eukaryotic translation
                     initiation factor 1A"
     variation       517
                     /gene="EIF1A"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:2761492"
     variation       615
                     /gene="EIF1A"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:4946"
     variation       complement(704)
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1236824"
     variation       909..910
                     /gene="EIF1A"
                     /allele="-"
                     /allele="AAAAA"
                     /db_xref="dbSNP:3047582"
     variation       1092
                     /gene="EIF1A"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:6784"
     variation       1092
                     /gene="EIF1A"
                     /note="WARNING: map location ambiguous"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1042986"
BASE COUNT      366 a    221 c    278 g    337 t
ORIGIN      
        1 ggcacgaggc gccatttgct gccgccgagc gtggacgcag gcggatctct gaagagctgg
       61 gtcgccagcc tctcccgcgc acgttgcctg gcctccagca cctacttggt cccgcgcgct
      121 ccctcgtgtc gcccctcgga gcagcagccg ccgcggtcgc cgctacccgg aaagaagtca
      181 gagacgccgc gagtcgccgc caccgccatg cccaagaata aaggtaaagg aggtaaaaac
      241 agacgcaggg gtaagaatga gaatgaatct gaaaaaagag aactggtatt caaagaggat
      301 gggcaggagt atgctcaggt aatcaaaatg ttgggaaatg gacggctaga agcaatgtgt
      361 ttcgatggtg taaagaggtt atgtcacatc agaggaaaat tgagaaaaaa ggtttggata
      421 aatacctcgg acattatttt ggttggtctc cgagactacc aggataacaa agctgatgta
      481 attttaaaat acaatgcaga cgaagctaga agtctgaagg catacggcga gcttccagag
      541 catgctaaaa tcaatgaaac tgatacattt ggtcctggag atgatgatga aattcagttt
      601 gatgacattg gagatgatga tgaagatatt gatgacatct aaattgaact caacatttta
      661 cattccatct tttctgaaga ttgtcctaca atttggattt tgatcatgac aaagaagatt
      721 aaaatttcat tagcatgaat gcaatttgtt aaagcagact gatttgtttc taagatattt
      781 ttggtttttt taaaactgat aataatgctg aattatctta agtgagatgt taagcccact
      841 ttgttctttt aatgtaatgg agcttatggg tagaagacca tgtctactaa ttacaaaaaa
      901 aaaaaaaaac catgattgct gcttttccta ccacttccag taagaaaatg ggtgttttga
      961 agaaatcatt tgccttgtct cacggaatct gattaagccc tggcctcttg atgtatagag
     1021 tcatggatat tccagttacc tagatattcc cttgagattt tgatacaatt tgagggaggc
     1081 agaagtctgc agttgaagaa aaaaaataag tctgtttgtc atatttaagt agcctgtgcg
     1141 tatttttata ctgattttga tatcatgttc ttttcatagt cgtattttgc caccgtaaac
     1201 at
//



Revised: July 5, 2002.
 
 


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1: NM_003011. Homo sapiens SET ...[gi:4506890] Links  


LOCUS       SET                     2577 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens SET translocation (myeloid leukemia-associated) (SET),
            mRNA.
ACCESSION   NM_003011
VERSION     NM_003011.1  GI:4506890
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2577)
  AUTHORS   von Lindern,M., van Baal,S., Wiegant,J., Raap,A., Hagemeijer,A. and
            Grosveld,G.
  TITLE     Can, a putative oncogene associated with myeloid leukemogenesis,
            may be activated by fusion of its 3' half to different genes:
            characterization of the set gene
  JOURNAL   Mol. Cell. Biol. 12 (8), 3346-3355 (1992)
  MEDLINE   92334332
   PUBMED   1630450
REFERENCE   2  (bases 1 to 2577)
  AUTHORS   Vaesen M, Barnikol-Watanabe S, Gotz H, Awni LA, Cole T, Zimmermann
            B, Kratzin HD and Hilschmann N.
  TITLE     Purification and characterization of two putative HLA class II
            associated proteins: PHAPI and PHAPII
  JOURNAL   Biol. Chem. Hoppe-Seyler 375 (2), 113-126 (1994)
  MEDLINE   94250340
   PUBMED   8192856
REFERENCE   3  (bases 1 to 2577)
  AUTHORS   Nagata,K., Kawase,H., Handa,H., Yano,K., Yamasaki,M., Ishimi,Y.,
            Okuda,A., Kikuchi,A. and Matsumoto,K.
  TITLE     Replication factor encoded by a putative oncogene, set, associated
            with myeloid leukemogenesis
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 92 (10), 4279-4283 (1995)
  MEDLINE   95273346
   PUBMED   7753797
REFERENCE   4  (bases 1 to 2577)
  AUTHORS   Li,M., Makkinje,A. and Damuni,Z.
  TITLE     The myeloid leukemia-associated protein SET is a potent inhibitor
            of protein phosphatase 2A
  JOURNAL   J. Biol. Chem. 271 (19), 11059-11062 (1996)
  MEDLINE   96212163
   PUBMED   8626647
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from M93651.1.
FEATURES             Location/Qualifiers
     source          1..2577
                     /organism="Homo sapiens"
                     /isolate="Acute undifferentiated leukemia patient"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34"
                     /sex="male"
                     /tissue_type="bone marrow; testis"
                     /tissue_lib="lambda EMBL3, lambda gt11"
     gene            1..2577
                     /gene="SET"
                     /note="I2PP2A; PHAPII; TAF-IBETA"
                     /db_xref="LocusID:6418"
                     /db_xref="MIM:600960"
     CDS             4..837
                     /gene="SET"
                     /note="SET gene; SET, translocation"
                     /codon_start=1
                     /product="SET translocation (myeloid leukemia-associated)"
                     /protein_id="NP_003002.1"
                     /db_xref="GI:4506891"
                     /db_xref="LocusID:6418"
                     /db_xref="MIM:600960"
                     /translation="MSAQAAKVSKKELNSNHDGADETSEKEQQEAIEHIDEVQNEIDR
                     LNEQASEEILKVEQKYNKLRQPFFQKRSELIAKIPNFWVTTFVNHPQVSALLGEEDEE
                     ALHYLTRVEVTEFEDIKSGYRIDFYFDENPYFENKVLSKEFHLNESGDPSSKSTEIKW
                     KSGKDLTKRSSQTQNKASRKRQHEEPESFFTWFTDHSDAGADELGEVIKDDIWPNPLQ
                     YYLVPDMDDEEGEGEEDDDDDEEEEGLEDIDEEGDEDEGEEDEDDDEGEEGEEDEGED
                     D"
     misc_feature    67..678
                     /gene="SET"
                     /note="NAP_family; Region: Nucleosome assembly protein
                     (NAP)"
                     /db_xref="CDD:pfam00956"
     misc_feature    88..231
                     /gene="SET"
                     /note="NAP_family; Region: Nucleosome assembly protein
                     (NAP)"
                     /db_xref="CDD:pfam00956"
     variation       complement(266)
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:819850"
     variation       1148
                     /gene="SET"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1061240"
     variation       complement(1546)
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:708088"
     variation       2134
                     /gene="SET"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1141306"
BASE COUNT      795 a    449 c    565 g    768 t
ORIGIN      
        1 cacatgtcgg cgcaggcggc caaagtcagt aaaaaggagc tcaactccaa ccacgacggg
       61 gccgacgaga cctcagaaaa agaacagcaa gaagcgattg aacacattga tgaagtacaa
      121 aatgaaatag acagacttaa tgaacaagcc agtgaggaga ttttgaaagt agaacagaaa
      181 tataacaaac tccgccaacc attttttcag aagaggtcag aattgatcgc caaaatccca
      241 aatttttggg taacaacatt tgtcaaccat ccacaagtgt ctgcactgct tggggaggaa
      301 gatgaagagg cactgcatta tttgaccaga gttgaagtga cagaatttga agatattaaa
      361 tcaggttaca gaatagattt ttattttgat gaaaatcctt actttgaaaa taaagttctc
      421 tccaaagaat ttcatctgaa tgagagtggt gatccatctt cgaagtccac cgaaatcaaa
      481 tggaaatctg gaaaggattt gacgaaacgt tcgagtcaaa cgcagaataa agccagcagg
      541 aagaggcagc atgaggaacc agagagcttc tttacctggt ttactgacca ttctgatgca
      601 ggtgctgatg agttaggaga ggtcatcaaa gatgatattt ggccaaaccc attacagtac
      661 tacttggttc ccgatatgga tgatgaagaa ggagaaggag aagaagatga tgatgatgat
      721 gaagaggagg aaggattaga agatattgac gaagaagggg atgaggatga aggtgaagaa
      781 gatgaagatg atgatgaagg ggaggaagga gaggaggatg aaggagaaga tgactaaata
      841 gaacactgat ggattccaac cttccttttt ttaaattttc tccagtccct gggagcaagt
      901 tgcagtcttt tttttttttt tttttttttt ccctcttgtg ctcagtcgcc ctgttcttga
      961 ggtctctttt ctctactcca tggttctcaa tttatttggg gggaaatacc ttgagcagaa
     1021 tacaatggga aaagagtctc tacccctttc tgttcgaagt tcatttttat cccttcctgt
     1081 ctgaacaaaa actgtatgga atcaacacca ccgagctctg tgggaaaaaa gaaaaacctg
     1141 ctccctttgc tctgctggaa gctggagggt gctaggcccc tgtgtagtag tgtatagaat
     1201 tctagctttt ttcctccttt ctctgtatat tgggctcaga gagtacactg tgtctctatg
     1261 tgaatatgga cagttagcat ttaccaacat gtatctgtct actttctctt gtttaaaaaa
     1321 agaaaaaaaa acttaaaaaa atggggttat agaaggtcag caaaggggtg gggtttgaga
     1381 tgtttgggtg ggttagtggg cattttgaca acatggcttc tcctttggca tgtttaattg
     1441 tgatatttga cagacatcct tgcagtttaa gatgacactt ttaaaataaa ttctctccta
     1501 atgatgactt gagccctgcc actcaatggg agaatcagca gaacctgtag gatcttattt
     1561 ggaattgaca ttctctattg taattttgtt cctgtttatt tttgggtttc tttttgtttc
     1621 actggaaagg aaagatgatg ctcagtttta aacgttaaaa gtgtacaagt tgctttgtta
     1681 caataaaact aaatgtgtac acaaaggatt tgatgctttt ctctcagcat aggtatgctt
     1741 actatgacct tccaagtttg acttgtataa catcactgtc aaactttgtc accctaactt
     1801 cgtatttttt gatacgcact tttgcaggat gacctcaggg ctatgtggat tgagtaatgg
     1861 gatttgaatc aatgtattaa tatctccata gctgggaaac gtgggttcaa tttgccattg
     1921 gtttctgaaa agtattcaca tcatttggga taccagatag ctcaatactc tctgagtaca
     1981 ttgtgccctt gatttttatc tccaagtggc agtttttaaa attggccttt tacctggata
     2041 taaattaatt gtgcctgcca ccaccatcca acagacctgg tgctctaatg ccaagttata
     2101 cacgggacag ttgctggcat gtcttcattg gctctctaaa atgtggccaa gaagataggc
     2161 tctcagtaag aagtctgatg gtgagcagta actgtccctg ctttctggta taaagctctc
     2221 aaatgtgacc atgtgaatct gggtgggata atggactcag ctctgtctgc tcaatgccat
     2281 tgtgcagaga agcaccctaa tgcataagct ttttaatgct gtaaaatata gtcgctgaaa
     2341 ttaaatgcca ctttttcaga ggtgaattaa tggacagtct ggtgaacttc aaaagctttt
     2401 tgatgtataa aacttgataa atggaactat tccatcaata ggcaaaagtg taacaaccta
     2461 tctagatgga tagtatgtaa tttctgcaca ggtctctgtt tagtaaatac atcactgtat
     2521 accgatcagg aatcttgctc caataaagga acataaagat ttaaaaaaaa aaaaaaa
//



Revised: July 5, 2002.
 
 


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1: NM_005502. Homo sapiens ATP-...[gi:21536375] Links  


LOCUS       ABCA1                  10412 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1
            (ABCA1), mRNA.
ACCESSION   NM_005502
VERSION     NM_005502.2  GI:21536375
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 10412)
  AUTHORS   Luciani,M.F., Denizot,F., Savary,S., Mattei,M.G. and Chimini,G.
  TITLE     Cloning of two novel ABC transporters mapping on human chromosome 9
  JOURNAL   Genomics 21 (1), 150-159 (1994)
  MEDLINE   94375008
   PUBMED   8088782
REFERENCE   2  (bases 1 to 10412)
  AUTHORS   Becq,F., Hamon,Y., Bajetto,A., Gola,M., Verrier,B. and Chimini,G.
  TITLE     ABC1, an ATP binding cassette transporter required for phagocytosis
            of apoptotic cells, generates a regulated anion flux after
            expression in Xenopus laevis oocytes
  JOURNAL   J. Biol. Chem. 272 (5), 2695-2699 (1997)
  MEDLINE   97160572
   PUBMED   9006906
REFERENCE   3  (bases 1 to 10412)
  AUTHORS   Rust,S., Walter,M., Funke,H., von Eckardstein,A., Cullen,P.,
            Kroes,H.Y., Hordijk,R., Geisel,J., Kastelein,J., Molhuizen,H.O.,
            Schreiner,M., Mischke,A., Hahmann,H.W. and Assmann,G.
  TITLE     Assignment of Tangier disease to chromosome 9q31 by a graphical
            linkage exclusion strategy
  JOURNAL   Nat. Genet. 20 (1), 96-98 (1998)
  MEDLINE   98400267
   PUBMED   9731541
REFERENCE   4  (bases 1 to 10412)
  AUTHORS   Langmann,T., Klucken,J., Reil,M., Liebisch,G., Luciani,M.F.,
            Chimini,G., Kaminski,W.E. and Schmitz,G.
  TITLE     Molecular cloning of the human ATP-binding cassette transporter 1
            (hABC1): evidence for sterol-dependent regulation in macrophages
  JOURNAL   Biochem. Biophys. Res. Commun. 257 (1), 29-33 (1999)
  MEDLINE   99194549
   PUBMED   10092505
REFERENCE   5  (bases 1 to 10412)
  AUTHORS   Brooks-Wilson,A., Marcil,M., Clee,S.M., Zhang,L.H., Roomp,K., van
            Dam,M., Yu,L., Brewer,C., Collins,J.A., Molhuizen,H.O., Loubser,O.,
            Ouelette,B.F., Fichter,K., Ashbourne-Excoffon,K.J., Sensen,C.W.,
            Scherer,S., Mott,S., Denis,M., Martindale,D., Frohlich,J.,
            Morgan,K., Koop,B., Pimstone,S., Kastelein,J.J., Hayden,M.R. et al.
  TITLE     Mutations in ABC1 in Tangier disease and familial high-density
            lipoprotein deficiency
  JOURNAL   Nat. Genet. 22 (4), 336-345 (1999)
  MEDLINE   99364411
   PUBMED   10431236
REFERENCE   6  (bases 1 to 10412)
  AUTHORS   Bodzioch,M., Orso,E., Klucken,J., Langmann,T., Bottcher,A.,
            Diederich,W., Drobnik,W., Barlage,S., Buchler,C.,
            Porsch-Ozcurumez,M., Kaminski,W.E., Hahmann,H.W., Oette,K.,
            Rothe,G., Aslanidis,C., Lackner,K.J. and Schmitz,G.
  TITLE     The gene encoding ATP-binding cassette transporter 1 is mutated in
            Tangier disease
  JOURNAL   Nat. Genet. 22 (4), 347-351 (1999)
  MEDLINE   99364412
   PUBMED   10431237
REFERENCE   7  (bases 1 to 10412)
  AUTHORS   Rust,S., Rosier,M., Funke,H., Real,J., Amoura,Z., Piette,J.C.,
            Deleuze,J.F., Brewer,H.B., Duverger,N., Denefle,P. and Assmann,G.
  TITLE     Tangier disease is caused by mutations in the gene encoding
            ATP-binding cassette transporter 1
  JOURNAL   Nat. Genet. 22 (4), 352-355 (1999)
  MEDLINE   99364413
   PUBMED   10431238
REFERENCE   8  (bases 1 to 10412)
  AUTHORS   Lawn,R.M., Wade,D.P., Garvin,M.R., Wang,X., Schwartz,K.,
            Porter,J.G., Seilhamer,J.J., Vaughan,A.M. and Oram,J.F.
  TITLE     The Tangier disease gene product ABC1 controls the cellular
            apolipoprotein-mediated lipid removal pathway
  JOURNAL   J. Clin. Invest. 104 (8), R25-R31 (1999)
  MEDLINE   99454823
   PUBMED   10525055
REFERENCE   9  (bases 1 to 10412)
  AUTHORS   Remaley,A.T., Rust,S., Rosier,M., Knapper,C., Naudin,L.,
            Broccardo,C., Peterson,K.M., Koch,C., Arnould,I., Prades,C.,
            Duverger,N., Funke,H., Assman,G., Dinger,M., Dean,M., Chimini,G.,
            Santamarina-Fojo,S., Fredrickson,D.S., Denefle,P. and Brewer,H.B.
            Jr.
  TITLE     Human ATP-binding cassette transporter 1 (ABC1): genomic
            organization and identification of the genetic defect in the
            original Tangier disease kindred
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 96 (22), 12685-12690 (1999)
  MEDLINE   20006295
   PUBMED   10535983
REFERENCE   10 (bases 1 to 10412)
  AUTHORS   Pullinger,C.R., Hakamata,H., Duchateau,P.N., Eng,C.,
            Aouizerat,B.E., Cho,M.H., Fielding,C.J. and Kane,J.P.
  TITLE     Analysis of hABC1 gene 5' end: additional peptide sequence,
            promoter region, and four polymorphisms
  JOURNAL   Biochem. Biophys. Res. Commun. 271 (2), 451-455 (2000)
  MEDLINE   20261282
   PUBMED   10799318
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF165281.1 and AF275948.1.
            On Jun 21, 2002 this sequence version replaced gi:5915657.
            Summary: The membrane-associated protein encoded by this gene is a
            member of the superfamily of ATP-binding cassette (ABC)
            transporters.  ABC proteins transport various molecules across
            extra- and intracellular membranes.  ABC genes are divided into
            seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20,
            White).  This protein is a member of the ABC1 subfamily.  Members
            of the ABC1 subfamily comprise the only major ABC subfamily found
            exclusively in multicellular eukaryotes.  With cholesterol as its
            substrate, this protein functions as a cholesteral efflux pump in
            the cellular lipid removal pathway.  Mutations in this gene have
            been associated with Tangier's disease and familial high-density
            lipoprotein deficiency.
FEATURES             Location/Qualifiers
     source          1..10412
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.1"
     gene            1..10412
                     /gene="ABCA1"
                     /note="TGD; ABC1; CERP; HDLDT1; Tangier; disease; Tangier
                     disease"
                     /db_xref="LocusID:19"
                     /db_xref="MIM:600046"
     CDS             314..7099
                     /gene="ABCA1"
                     /note="ATP-binding cassette 1; high density lipoprotein
                     deficiency, Tangier type, 1; cholesterol efflux regulatory
                     protein"
                     /codon_start=1
                     /product="ATP-binding cassette, sub-family A member 1"
                     /protein_id="NP_005493.2"
                     /db_xref="GI:21536376"
                     /db_xref="LocusID:19"
                     /db_xref="MIM:600046"
                     /translation="MACWPQLRLLLWKNLTFRRRQTCQLLLEVAWPLFIFLILISVRL
                     SYPPYEQHECHFPNKAMPSAGTLPWVQGIICNANNPCFRYPTPGEAPGVVGNFNKSIV
                     ARLFSDARRLLLYSQKDTSMKDMRKVLRTLQQIKKSSSNLKLQDFLVDNETFSGFLYH
                     NLSLPKSTVDKMLRADVILHKVFLQGYQLHLTSLCNGSKSEEMIQLGDQEVSELCGLP
                     REKLAAAERVLRSNMDILKPILRTLNSTSPFPSKELAEATKTLLHSLGTLAQELFSMR
                     SWSDMRQEVMFLTNVNSSSSSTQIYQAVSRIVCGHPEGGGLKIKSLNWYEDNNYKALF
                     GGNGTEEDAETFYDNSTTPYCNDLMKNLESSPLSRIIWKALKPLLVGKILYTPDTPAT
                     RQVMAEVNKTFQELAVFHDLEGMWEELSPKIWTFMENSQEMDLVRMLLDSRDNDHFWE
                     QQLDGLDWTAQDIVAFLAKHPEDVQSSNGSVYTWREAFNETNQAIRTISRFMECVNLN
                     KLEPIATEVWLINKSMELLDERKFWAGIVFTGITPGSIELPHHVKYKIRMDIDNVERT
                     NKIKDGYWDPGPRADPFEDMRYVWGGFAYLQDVVEQAIIRVLTGTEKKTGVYMQQMPY
                     PCYVDDIFLRVMSRSMPLFMTLAWIYSVAVIIKGIVYEKEARLKETMRIMGLDNSILW
                     FSWFISSLIPLLVSAGLLVVILKLGNLLPYSDPSVVFVFLSVFAVVTILQCFLISTLF
                     SRANLAAACGGIIYFTLYLPYVLCVAWQDYVGFTLKIFASLLSPVAFGFGCEYFALFE
                     EQGIGVQWDNLFESPVEEDGFNLTTSVSMMLFDTFLYGVMTWYIEAVFPGQYGIPRPW
                     YFPCTKSYWFGEESDEKSHPGSNQKRISEICMEEEPTHLKLGVSIQNLVKVYRDGMKV
                     AVDGLALNFYEGQITSFLGHNGAGKTTTMSILTGLFPPTSGTAYILGKDIRSEMSTIR
                     QNLGVCPQHNVLFDMLTVEEHIWFYARLKGLSEKHVKAEMEQMALDVGLPSSKLKSKT
                     SQLSGGMQRKLSVALAFVGGSKVVILDEPTAGVDPYSRRGIWELLLKYRQGRTIILST
                     HHMDEADVLGDRIAIISHGKLCCVGSSLFLKNQLGTGYYLTLVKKDVESSLSSCRNSS
                     STVSYLKKEDSVSQSSSDAGLGSDHESDTLTIDVSAISNLIRKHVSEARLVEDIGHEL
                     TYVLPYEAAKEGAFVELFHEIDDRLSDLGISSYGISETTLEEIFLKVAEESGVDAETS
                     DGTLPARRNRRAFGDKQSCLRPFTEDDAADPNDSDIDPESRETDLLSGMDGKGSYQVK
                     GWKLTQQQFVALLWKRLLIARRSRKGFFAQIVLPAVFVCIALVFSLIVPPFGKYPSLE
                     LQPWMYNEQYTFVSNDAPEDTGTLELLNALTKDPGFGTRCMEGNPIPDTPCQAGEEEW
                     TTAPVPQTIMDLFQNGNWTMQNPSPACQCSSDKIKKMLPVCPPGAGGLPPPQRKQNTA
                     DILQDLTGRNISDYLVKTYVQIIAKSLKNKIWVNEFRYGGFSLGVSNTQALPPSQEVN
                     DAIKQMKKHLKLAKDSSADRFLNSLGRFMTGLDTKNNVKVWFNNKGWHAISSFLNVIN
                     NAILRANLQKGENPSHYGITAFNHPLNLTKQQLSEVALMTTSVDVLVSICVIFAMSFV
                     PASFVVFLIQERVSKAKHLQFISGVKPVIYWLSNFVWDMCNYVVPATLVIIIFICFQQ
                     KSYVSSTNLPVLALLLLLYGWSITPLMYPASFVFKIPSTAYVVLTSVNLFIGINGSVA
                     TFVLELFTDNKLNNINDILKSVFLIFPHFCLGRGLIDMVKNQAMADALERFGENRFVS
                     PLSWDLVGRNLFAMAVEGVVFFLITVLIQYRFFIRPRPVNAKLSPLNDEDEDVRRERQ
                     RILDGGGQNDILEIKELTKIYRRKRKPAVDRICVGIPPGECFGLLGVNGAGKSSTFKM
                     LTGDTTVTRGDAFLNKNSILSNIHEVHQNMGYCPQFDAITELLTGREHVEFFALLRGV
                     PEKEVGKVGEWAIRKLGLVKYGEKYAGNYSGGNKRKLSTAMALIGGPPVVFLDEPTTG
                     MDPKARRFLWNCALSVVKEGRSVVLTSHSMEECEALCTRMAIMVNGRFRCLGSVQHLK
                     NRFGDGYTIVVRIAGSNPDLKPVQDFFGLAFPGSVLKEKHRNMLQYQLPSSLSSLARI
                     FSILSQSKKRLHIEDYSVSQTTLDQVFVNFAKDQSDDDHLKDLSLHKNQTVVDVAVLT
                     SFLQDEKVKESYV"
     misc_feature    3089..3634
                     /gene="ABCA1"
                     /note="Region: pfam00005, ABC_tran, ABC transporter. ABC
                     transporters for a large family of proteins responsible
                     for translocation of a variety of compounds across
                     biological membranes. ABC transporters are the largest
                     family of proteins in many completely sequenced bacteria.
                     ABC transporters are composed of two copies of this domain
                     and two copies of a transmembrane domain pfam00664. These
                     four domains may belong to a single polypeptide or belong
                     in different polypeptide chains"
     misc_feature    6128..6673
                     /gene="ABCA1"
                     /note="Region: pfam00005, ABC_tran, ABC transporter. ABC
                     transporters for a large family of proteins responsible
                     for translocation of a variety of compounds across
                     biological membranes. ABC transporters are the largest
                     family of proteins in many completely sequenced bacteria.
                     ABC transporters are composed of two copies of this domain
                     and two copies of a transmembrane domain pfam00664. These
                     four domains may belong to a single polypeptide or belong
                     in different polypeptide chains"
     variation       787
                     /gene="ABCA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2230805"
     variation       1078
                     /gene="ABCA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2853573"
     variation       complement(1249)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2274873"
     variation       2072
                     /gene="ABCA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2853574"
     variation       2103
                     /gene="ABCA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2853578"
     variation       2353
                     /gene="ABCA1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:2853579"
     variation       complement(2353)
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3753026"
     variation       2962
                     /gene="ABCA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2066714"
     variation       3997
                     /gene="ABCA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2230807"
     variation       6234
                     /gene="ABCA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2853581"
     variation       6816
                     /gene="ABCA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2853577"
     variation       8995
                     /gene="ABCA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:363717"
     variation       10265
                     /gene="ABCA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1137170"
BASE COUNT     2831 a   2304 c   2423 g   2854 t
ORIGIN      
        1 gtaattgcga gcgagagtga gtggggccgg gacccgcaga gccgagccga cccttctctc
       61 ccgggctgcg gcagggcagg gcggggagct ccgcgcacca acagagccgg ttctcagggc
      121 gctttgctcc ttgttttttc cccggttctg ttttctcccc ttctccggaa ggcttgtcaa
      181 ggggtaggag aaagagacgc aaacacaaaa gtggaaaaca gttaatgacc agccacggcg
      241 tccctgctgt gagctctggc cgctgccttc cagggctccc gagccacacg ctgggggtgc
      301 tggctgaggg aacatggctt gttggcctca gctgaggttg ctgctgtgga agaacctcac
      361 tttcagaaga agacaaacat gtcagctgct gctggaagtg gcctggcctc tatttatctt
      421 cctgatcctg atctctgttc ggctgagcta cccaccctat gaacaacatg aatgccattt
      481 tccaaataaa gccatgccct ctgcaggaac acttccttgg gttcagggga ttatctgtaa
      541 tgccaacaac ccctgtttcc gttacccgac tcctggggag gctcccggag ttgttggaaa
      601 ctttaacaaa tccattgtgg ctcgcctgtt ctcagatgct cggaggcttc ttttatacag
      661 ccagaaagac accagcatga aggacatgcg caaagttctg agaacattac agcagatcaa
      721 gaaatccagc tcaaacttga agcttcaaga tttcctggtg gacaatgaaa ccttctctgg
      781 gttcctgtat cacaacctct ctctcccaaa gtctactgtg gacaagatgc tgagggctga
      841 tgtcattctc cacaaggtat ttttgcaagg ctaccagtta catttgacaa gtctgtgcaa
      901 tggatcaaaa tcagaagaga tgattcaact tggtgaccaa gaagtttctg agctttgtgg
      961 cctaccaagg gagaaactgg ctgcagcaga gcgagtactt cgttccaaca tggacatcct
     1021 gaagccaatc ctgagaacac taaactctac atctcccttc ccgagcaagg agctggctga
     1081 agccacaaaa acattgctgc atagtcttgg gactctggcc caggagctgt tcagcatgag
     1141 aagctggagt gacatgcgac aggaggtgat gtttctgacc aatgtgaaca gctccagctc
     1201 ctccacccaa atctaccagg ctgtgtctcg tattgtctgc gggcatcccg agggaggggg
     1261 gctgaagatc aagtctctca actggtatga ggacaacaac tacaaagccc tctttggagg
     1321 caatggcact gaggaagatg ctgaaacctt ctatgacaac tctacaactc cttactgcaa
     1381 tgatttgatg aagaatttgg agtctagtcc tctttcccgc attatctgga aagctctgaa
     1441 gccgctgctc gttgggaaga tcctgtatac acctgacact ccagccacaa ggcaggtcat
     1501 ggctgaggtg aacaagacct tccaggaact ggctgtgttc catgatctgg aaggcatgtg
     1561 ggaggaactc agccccaaga tctggacctt catggagaac agccaagaaa tggaccttgt
     1621 ccggatgctg ttggacagca gggacaatga ccacttttgg gaacagcagt tggatggctt
     1681 agattggaca gcccaagaca tcgtggcgtt tttggccaag cacccagagg atgtccagtc
     1741 cagtaatggt tctgtgtaca cctggagaga agctttcaac gagactaacc aggcaatccg
     1801 gaccatatct cgcttcatgg agtgtgtcaa cctgaacaag ctagaaccca tagcaacaga
     1861 agtctggctc atcaacaagt ccatggagct gctggatgag aggaagttct gggctggtat
     1921 tgtgttcact ggaattactc caggcagcat tgagctgccc catcatgtca agtacaagat
     1981 ccgaatggac attgacaatg tggagaggac aaataaaatc aaggatgggt actgggaccc
     2041 tggtcctcga gctgacccct ttgaggacat gcggtacgtc tgggggggct tcgcctactt
     2101 gcaggatgtg gtggagcagg caatcatcag ggtgctgacg ggcaccgaga agaaaactgg
     2161 tgtctatatg caacagatgc cctatccctg ttacgttgat gacatctttc tgcgggtgat
     2221 gagccggtca atgcccctct tcatgacgct ggcctggatt tactcagtgg ctgtgatcat
     2281 caagggcatc gtgtatgaga aggaggcacg gctgaaagag accatgcgga tcatgggcct
     2341 ggacaacagc atcctctggt ttagctggtt cattagtagc ctcattcctc ttcttgtgag
     2401 cgctggcctg ctagtggtca tcctgaagtt aggaaacctg ctgccctaca gtgatcccag
     2461 cgtggtgttt gtcttcctgt ccgtgtttgc tgtggtgaca atcctgcagt gcttcctgat
     2521 tagcacactc ttctccagag ccaacctggc agcagcctgt gggggcatca tctacttcac
     2581 gctgtacctg ccctacgtcc tgtgtgtggc atggcaggac tacgtgggct tcacactcaa
     2641 gatcttcgct agcctgctgt ctcctgtggc ttttgggttt ggctgtgagt actttgccct
     2701 ttttgaggag cagggcattg gagtgcagtg ggacaacctg tttgagagtc ctgtggagga
     2761 agatggcttc aatctcacca cttcggtctc catgatgctg tttgacacct tcctctatgg
     2821 ggtgatgacc tggtacattg aggctgtctt tccaggccag tacggaattc ccaggccctg
     2881 gtattttcct tgcaccaagt cctactggtt tggcgaggaa agtgatgaga agagccaccc
     2941 tggttccaac cagaagagaa tatcagaaat ctgcatggag gaggaaccca cccacttgaa
     3001 gctgggcgtg tccattcaga acctggtaaa agtctaccga gatgggatga aggtggctgt
     3061 cgatggcctg gcactgaatt tttatgaggg ccagatcacc tccttcctgg gccacaatgg
     3121 agcggggaag acgaccacca tgtcaatcct gaccgggttg ttccccccga cctcgggcac
     3181 cgcctacatc ctgggaaaag acattcgctc tgagatgagc accatccggc agaacctggg
     3241 ggtctgtccc cagcataacg tgctgtttga catgctgact gtcgaagaac acatctggtt
     3301 ctatgcccgc ttgaaagggc tctctgagaa gcacgtgaag gcggagatgg agcagatggc
     3361 cctggatgtt ggtttgccat caagcaagct gaaaagcaaa acaagccagc tgtcaggtgg
     3421 aatgcagaga aagctatctg tggccttggc ctttgtcggg ggatctaagg ttgtcattct
     3481 ggatgaaccc acagctggtg tggaccctta ctcccgcagg ggaatatggg agctgctgct
     3541 gaaataccga caaggccgca ccattattct ctctacacac cacatggatg aagcggacgt
     3601 cctgggggac aggattgcca tcatctccca tgggaagctg tgctgtgtgg gctcctccct
     3661 gtttctgaag aaccagctgg gaacaggcta ctacctgacc ttggtcaaga aagatgtgga
     3721 atcctccctc agttcctgca gaaacagtag tagcactgtg tcatacctga aaaaggagga
     3781 cagtgtttct cagagcagtt ctgatgctgg cctgggcagc gaccatgaga gtgacacgct
     3841 gaccatcgat gtctctgcta tctccaacct catcaggaag catgtgtctg aagcccggct
     3901 ggtggaagac atagggcatg agctgaccta tgtgctgcca tatgaagctg ctaaggaggg
     3961 agcctttgtg gaactctttc atgagattga tgaccggctc tcagacctgg gcatttctag
     4021 ttatggcatc tcagagacga ccctggaaga aatattcctc aaggtggccg aagagagtgg
     4081 ggtggatgct gagacctcag atggtacctt gccagcaaga cgaaacaggc gggccttcgg
     4141 ggacaagcag agctgtcttc gcccgttcac tgaagatgat gctgctgatc caaatgattc
     4201 tgacatagac ccagaatcca gagagacaga cttgctcagt gggatggatg gcaaagggtc
     4261 ctaccaggtg aaaggctgga aacttacaca gcaacagttt gtggcccttt tgtggaagag
     4321 actgctaatt gccagacgga gtcggaaagg attttttgct cagattgtct tgccagctgt
     4381 gtttgtctgc attgcccttg tgttcagcct gatcgtgcca ccctttggca agtaccccag
     4441 cctggaactt cagccctgga tgtacaacga acagtacaca tttgtcagca atgatgctcc
     4501 tgaggacacg ggaaccctgg aactcttaaa cgccctcacc aaagaccctg gcttcgggac
     4561 ccgctgtatg gaaggaaacc caatcccaga cacgccctgc caggcagggg aggaagagtg
     4621 gaccactgcc ccagttcccc agaccatcat ggacctcttc cagaatggga actggacaat
     4681 gcagaaccct tcacctgcat gccagtgtag cagcgacaaa atcaagaaga tgctgcctgt
     4741 gtgtccccca ggggcagggg ggctgcctcc tccacaaaga aaacaaaaca ctgcagatat
     4801 ccttcaggac ctgacaggaa gaaacatttc ggattatctg gtgaagacgt atgtgcagat
     4861 catagccaaa agcttaaaga acaagatctg ggtgaatgag tttaggtatg gcggcttttc
     4921 cctgggtgtc agtaatactc aagcacttcc tccgagtcaa gaagttaatg atgccatcaa
     4981 acaaatgaag aaacacctaa agctggccaa ggacagttct gcagatcgat ttctcaacag
     5041 cttgggaaga tttatgacag gactggacac caaaaataat gtcaaggtgt ggttcaataa
     5101 caagggctgg catgcaatca gctctttcct gaatgtcatc aacaatgcca ttctccgggc
     5161 caacctgcaa aagggagaga accctagcca ttatggaatt actgctttca atcatcccct
     5221 gaatctcacc aagcagcagc tctcagaggt ggctctgatg accacatcag tggatgtcct
     5281 tgtgtccatc tgtgtcatct ttgcaatgtc cttcgtccca gccagctttg tcgtattcct
     5341 gatccaggag cgggtcagca aagcaaaaca cctgcagttc atcagtggag tgaagcctgt
     5401 catctactgg ctctctaatt ttgtctggga tatgtgcaat tacgttgtcc ctgccacact
     5461 ggtcattatc atcttcatct gcttccagca gaagtcctat gtgtcctcca ccaatctgcc
     5521 tgtgctagcc cttctacttt tgctgtatgg gtggtcaatc acacctctca tgtacccagc
     5581 ctcctttgtg ttcaagatcc ccagcacagc ctatgtggtg ctcaccagcg tgaacctctt
     5641 cattggcatt aatggcagcg tggccacctt tgtgctggag ctgttcaccg acaataagct
     5701 gaataatatc aatgatatcc tgaagtccgt gttcttgatc ttcccacatt tttgcctggg
     5761 acgagggctc atcgacatgg tgaaaaacca ggcaatggct gatgccctgg aaaggtttgg
     5821 ggagaatcgc tttgtgtcac cattatcttg ggacttggtg ggacgaaacc tcttcgccat
     5881 ggccgtggaa ggggtggtgt tcttcctcat tactgttctg atccagtaca gattcttcat
     5941 caggcccaga cctgtaaatg caaagctatc tcctctgaat gatgaagatg aagatgtgag
     6001 gcgggaaaga cagagaattc ttgatggtgg aggccagaat gacatcttag aaatcaagga
     6061 gttgacgaag atatatagaa ggaagcggaa gcctgctgtt gacaggattt gcgtgggcat
     6121 tcctcctggt gagtgctttg ggctcctggg agttaatggg gctggaaaat catcaacttt
     6181 caagatgtta acaggagata ccactgttac cagaggagat gctttcctta acaaaaatag
     6241 tatcttatca aacatccatg aagtacatca gaacatgggc tactgccctc agtttgatgc
     6301 catcacagag ctgttgactg ggagagaaca cgtggagttc tttgcccttt tgagaggagt
     6361 cccagagaaa gaagttggca aggttggtga gtgggcgatt cggaaactgg gcctcgtgaa
     6421 gtatggagaa aaatatgctg gtaactatag tggaggcaac aaacgcaagc tctctacagc
     6481 catggctttg atcggcgggc ctcctgtggt gtttctggat gaacccacca caggcatgga
     6541 tcccaaagcc cggcggttct tgtggaattg tgccctaagt gttgtcaagg aggggagatc
     6601 agtagtgctt acatctcata gtatggaaga atgtgaagct ctttgcacta ggatggcaat
     6661 catggtcaat ggaaggttca ggtgccttgg cagtgtccag catctaaaaa ataggtttgg
     6721 agatggttat acaatagttg tacgaatagc agggtccaac ccggacctga agcctgtcca
     6781 ggatttcttt ggacttgcat ttcctggaag tgttctaaaa gagaaacacc ggaacatgct
     6841 acaataccag cttccatctt cattatcttc tctggccagg atattcagca tcctctccca
     6901 gagcaaaaag cgactccaca tagaagacta ctctgtttct cagacaacac ttgaccaagt
     6961 atttgtgaac tttgccaagg accaaagtga tgatgaccac ttaaaagacc tctcattaca
     7021 caaaaaccag acagtagtgg acgttgcagt tctcacatct tttctacagg atgagaaagt
     7081 gaaagaaagc tatgtatgaa gaatcctgtt catacggggt ggctgaaagt aaagaggaac
     7141 tagactttcc tttgcaccat gtgaagtgtt gtggagaaaa gagccagaag ttgatgtggg
     7201 aagaagtaaa ctggatactg tactgatact attcaatgca atgcaattca atgcaatgaa
     7261 aacaaaattc cattacaggg gcagtgcctt tgtagcctat gtcttgtatg gctctcaagt
     7321 gaaagacttg aatttagttt tttacctata cctatgtgaa actctattat ggaacccaat
     7381 ggacatatgg gtttgaactc acactttttt tttttttttt gttcctgtgt attctcattg
     7441 gggttgcaac aataattcat caagtaatca tggccagcga ttattgatca aaatcaaaag
     7501 gtaatgcaca tcctcattca ctaagccatg ccatgcccag gagactggtt tcccggtgac
     7561 acatccattg ctggcaatga gtgtgccaga gttattagtg ccaagttttt cagaaagttt
     7621 gaagcaccat ggtgtgtcat gctcactttt gtgaaagctg ctctgctcag agtctatcaa
     7681 cattgaatat cagttgacag aatggtgcca tgcgtggcta acatcctgct ttgattccct
     7741 ctgataagct gttctggtgg cagtaacatg caacaaaaat gtgggtgtct ccaggcacgg
     7801 gaaacttggt tccattgtta tattgtccta tgcttcgagc catgggtcta cagggtcatc
     7861 cttatgagac tcttaaatat acttagatcc tggtaagagg caaagaatca acagccaaac
     7921 tgctggggct gcaagctgct gaagccaggg catgggatta aagagattgt gcgttcaaac
     7981 ctagggaagc ctgtgcccat ttgtcctgac tgtctgctaa catggtacac tgcatctcaa
     8041 gatgtttatc tgacacaagt gtattatttc tggctttttg aattaatcta gaaaatgaaa
     8101 agatggagtt gtattttgac aaaaatgttt gtacttttta atgttatttg gaattttaag
     8161 ttctatcagt gacttctgaa tccttagaat ggcctctttg tagaaccctg tggtatagag
     8221 gagtatggcc actgccccac tatttttatt ttcttatgta agtttgcata tcagtcatga
     8281 ctagtgccta gaaagcaatg tgatggtcag gatctcatga cattatattt gagtttcttt
     8341 cagatcattt aggatactct taatctcact tcatcaatca aatatttttt gagtgtatgc
     8401 tgtagctgaa agagtatgta cgtacgtata agactagaga gatattaagt ctcagtacac
     8461 ttcctgtgcc atgttattca gctcactggt ttacaaatat aggttgtctt gtggttgtag
     8521 gagcccactg taacaatact gggcagcctt tttttttttt tttttaattg caacaatgca
     8581 aaagccaaga aagtataagg gtcacaagtc taaacaatga attcttcaac agggaaaaca
     8641 gctagcttga aaacttgctg aaaaacacaa cttgtgttta tggcatttag taccttcaaa
     8701 taattggctt tgcagatatt ggatacccca ttaaatctga cagtctcaaa tttttcatct
     8761 cttcaatcac tagtcaagaa aaatataaaa acaacaaata cttccatatg gagcattttt
     8821 cagagttttc taacccagtc ttatttttct agtcagtaaa catttgtaaa aatactgttt
     8881 cactaatact tactgttaac tgtcttgaga gaaaagaaaa atatgagaga actattgttt
     8941 ggggaagttc aagtgatctt tcaatatcat tactaacttc ttccactttt tccagaattt
     9001 gaatattaac gctaaaggtg taagacttca gatttcaaat taatctttct atatttttta
     9061 aatttacaga atattatata acccactgct gaaaaagaaa aaaatgattg ttttagaagt
     9121 taaagtcaat attgatttta aatataagta atgaaggcat atttccaata actagtgata
     9181 tggcatcgtt gcattttaca gtatcttcaa aaatacagaa tttatagaat aatttctcct
     9241 catttaatat ttttcaaaat caaagttatg gtttcctcat tttactaaaa tcgtattcta
     9301 attcttcatt atagtaaatc tatgagcaac tccttacttc ggttcctctg atttcaaggc
     9361 catattttaa aaaatcaaaa ggcactgtga actattttga agaaaacaca acattttaat
     9421 acagattgaa aggacctctt ctgaagctag aaacaatcta tagttataca tcttcattaa
     9481 tactgtgtta ccttttaaaa tagtaatttt ttacattttc ctgtgtaaac ctaattgtgg
     9541 tagaaatttt taccaactct atactcaatc aagcaaaatt tctgtatatt ccctgtggaa
     9601 tgtacctatg tgagtttcag aaattctcaa aatacgtgtt caaaaatttc tgcttttgca
     9661 tctttgggac acctcagaaa acttattaac aactgtgaat atgagaaata cagaagaaaa
     9721 taataagccc tctatacata aatgcccagc acaattcatt gttaaaaaac aaccaaacct
     9781 cacactactg tatttcatta tctgtactga aagcaaatgc tttgtgacta ttaaatgttg
     9841 cacatcattc attcactgta tagtaatcat tgactaaagc catttgtctg tgttttcttc
     9901 ttgtggttgt atatatcagg taaaatattt tccaaagagc catgtgtcat gtaatactga
     9961 accactttga tattgagaca ttaatttgta cccttgttat tatctactag taataatgta
    10021 atactgtaga aatattgctc taattctttt caaaattgtt gcatccccct tagaatgttt
    10081 ctatttccat aaggatttag gtatgctatt atcccttctt ataccctaag atgaagctgt
    10141 ttttgtgctc tttgttcatc attggccctc attccaagca ctttacgctg tctgtaatgg
    10201 gatctatttt tgcactggaa tatctgagaa ttgcaaaact agacaaaagt ttcacaacag
    10261 atttctaagt taaatcattt tcattaaaag gaaaaaagaa aaaaaatttt gtatgtcaat
    10321 aactttatat gaagtattaa aatgcatatt tctatgttgt aatataatga gtcacaaaat
    10381 aaagctgtga cagttctgtt ggtctacaga aa
//



Revised: July 5, 2002.
 
 


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1: NM_003024. Homo sapiens inte...[gi:4504796] Links  


LOCUS       ITSN1                   7247 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), mRNA.
ACCESSION   NM_003024
VERSION     NM_003024.1  GI:4504796
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7247)
  AUTHORS   Chen,H. and Antonarakis,S.E.
  TITLE     The SH3D1A gene maps to human chromosome 21q22.1-->q22.2
  JOURNAL   Cytogenet. Cell Genet. 78 (3-4), 213-215 (1997)
  MEDLINE   98127038
   PUBMED   9465890
REFERENCE   2  (bases 1 to 7247)
  AUTHORS   Guipponi,M., Scott,H.S., Chen,H., Schebesta,A., Rossier,C. and
            Antonarakis,S.E.
  TITLE     Two isoforms of a human intersectin (ITSN) protein are produced by
            brain-specific alternative splicing in a stop codon
  JOURNAL   Genomics 53 (3), 369-376 (1998)
  MEDLINE   99017974
   PUBMED   9799604
REFERENCE   3  (bases 1 to 7247)
  AUTHORS   Yamabhai,M., Hoffman,N.G., Hardison,N.L., McPherson,P.S.,
            Castagnoli,L., Cesareni,G. and Kay,B.K.
  TITLE     Intersectin, a novel adaptor protein with two Eps15 homology and
            five Src homology 3 domains
  JOURNAL   J. Biol. Chem. 273 (47), 31401-31407 (1998)
  MEDLINE   99030416
   PUBMED   9813051
REFERENCE   4  (bases 1 to 7247)
  AUTHORS   Guipponi,M., Scott,H.S., Hattori,M., Ishii,K., Sakaki,Y. and
            Antonarakis,S.E.
  TITLE     Genomic structure, sequence, and refined mapping of the human
            intersectin gene (ITSN), which encompasses 250 kb on chromosome
            21q22.1-->q22.2
  JOURNAL   Cytogenet. Cell Genet. 83 (3-4), 218-220 (1998)
  MEDLINE   99172091
   PUBMED   10072581
REFERENCE   5  (bases 1 to 7247)
  AUTHORS   Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS,
            Toyoda A, Ishii K, Totoki Y, Choi DK, Soeda E, Ohki M, Takagi T,
            Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J,
            Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M
            and Schudy A.
  TITLE     The DNA sequence of human chromosome 21. The chromosome 21 mapping
            and sequencing consortium
  JOURNAL   Nature 405 (6784), 311-319 (2000)
  MEDLINE   20289799
   PUBMED   10830953
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF064244.1.
FEATURES             Location/Qualifiers
     source          1..7247
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.1-q22.2"
                     /tissue_type="brain"
                     /dev_stage="fetus"
     gene            1..7247
                     /gene="ITSN1"
                     /note="ITSN; SH3P17; SH3D1A"
                     /db_xref="LocusID:6453"
                     /db_xref="MIM:602442"
     CDS             107..5272
                     /gene="ITSN1"
                     /note="intersectin (SH3 domain protein 1A); SH3 domain
                     protein-1A; human intersectin-SH3 domain-containing
                     protein SH3P17"
                     /codon_start=1
                     /product="intersectin 1 (SH3 domain protein)"
                     /protein_id="NP_003015.1"
                     /db_xref="GI:4504797"
                     /db_xref="LocusID:6453"
                     /db_xref="MIM:602442"
                     /translation="MAQFPTPFGGSLDIWAITVEERAKHDQQFHSLKPISGFITGDQA
                     RNFFFQSGLPQPVLAQIWALADMNNDGRMDQVEFSIAMKLIKLKLQGYQLPSALPPVM
                     KQQPVAISSAPPFGMGGIASMPPLTAVAPVPMGSIPVVGMSPTLVSSVPTAAVPPLAN
                     GAPPVIQPLPAFAHPAATLPKSSSFSRSGPGSQLNTKLQKAQSFDVASVPPVAEWAVP
                     QSSRLKYRQLFNSHDKTMSGHLTGPQARTILMQSSLPQAQLASIWNLSDIDQDGKLTA
                     EEFILAMHLIDVAMSGQPLPPVLPPEYIPPSFRRVRSGSGISVISSTSVDQRLPEEPV
                     LEDEQQQLEKKLPVTFEDKKRENFERGNLELEKRRQALLEQQRKEQERLAQLERAEQE
                     RKERERQEQERKRQLELEKQLEKQRELERQREEERRKEIERREAAKRELERQRQLEWE
                     RNRRQELLNQRNKEQEDIVVLKAKKKTLEFELEALNDKKHQLEGKLQDIRCRLTTQRQ
                     EIESTNKSRELRIAEITHLQQQLQESQQMLGRLIPEKQILNDQLKQVQQNSLHRDSLV
                     TLKRALEAKELARQHLRDQLDEVEKETRSKLQEIDIFNNQLKELREIHNKQQLQKQKS
                     MEAERLKQKEQERKIIELEKQKEEAQRRAQERDKQWLEHVQQEDEHQRPRKLHEEEKL
                     KREESVKKKDGEEKGKQEAQDKLGRLFHQHQEPAKPAVQAPWSTAEKGPLTISAQENV
                     KVVYYRALYPFESRSHDEITIQPGDIVMVKGEWVDESQTGEPGWLGGELKGKTGWFPA
                     NYAEKIPENEVPAPVKPVTDSTSAPAPKLALRETPAPLAVTSSEPSTTPNNWADFSST
                     WPTSTNEKPETDNWDAWAAQPSLTVPSAGQLRQRSAFTPATATGSSPSPVLGQGEKVE
                     GLQAQALYPWRAKKDNHLNFNKNDVITVLEQQDMWWFGEVQGQKGWFPKSYVKLISGP
                     IRKSTSMDSGSSESPASLKRVASPAAKPVVSGEEFIAMYTYESSEQGDLTFQQGDVIL
                     VTKKDGDWWTGTVGDKAGVFPSNYVRLKDSEGSGTAGKTGSLGKKPEIAQVIASYTAT
                     GPEQLTLAPGQLILIRKKNPGGWWEGELQARGKKRQIGWFPANYVKLLNPGTSKITPT
                     EPPKSTALAAVCQVIGMYDYTAQNDDELAFNKGQIINVLNKEDPDWWKGEVNGQVGLF
                     PSNYVKLTTDMDPSQQWCSDLHLLDMLTPTERKRQGYIHELIVTEENYVNDLQLVTEI
                     FQKPLMESELLTEKEVAMIFVNWKELIMCNIKLLKALRVRKKMSGEKMPVKMIGDILS
                     AQLPHMQPYIRFCSRQLNGAALIQQKTDEAPDFKEFVKRLEMDPRCKGMPLSSFILKP
                     MQRVTRYPLIIKNILENTPENHPDHSHLKHALEKAEELCSQVNEGVREKENSDRLEWI
                     QAHVQCEGLSEQLVFNSVTNCLGPRKFLHSGKLYKAKNNKELYGFLFNDFLLLTQITK
                     PLGSSGTDKVFSPKSNLQYKMYKTPIFLNEVLVKLPTDPSGDEPIFHISHIDRVYTLR
                     AESINERTAWVQKIKAASELYIETEKKKREKAYLVRSQRATGIGRLMVNVVEGIELKP
                     CRSHGKSNPYCEVTMGSQCHITKTIQDTLNPKWNSNCQFFIRDLEQEVLCITVFERDQ
                     FSPDDFLGRTEIRVADIKKDQGSKGPVTKCLLLHEVPTGEIVVRLDLQLFDEP"
     misc_feature    149..406
                     /gene="ITSN1"
                     /note="EH; Region: Eps15 homology domain"
                     /db_xref="CDD:EH"
     misc_feature    746..982
                     /gene="ITSN1"
                     /note="EH; Region: Eps15 homology domain"
                     /db_xref="CDD:EH"
     misc_feature    1517..2128
                     /gene="ITSN1"
                     /note="Myosin_tail; Region: Myosin tail"
                     /db_xref="CDD:pfam01576"
     misc_feature    1757..2137
                     /gene="ITSN1"
                     /note="ERM; Region: Ezrin/radixin/moesin family"
                     /db_xref="CDD:pfam00769"
     misc_feature    2336..2518
                     /gene="ITSN1"
                     /note="SH3; Region: SH3 domain"
                     /db_xref="CDD:pfam00018"
     misc_feature    2336..2518
                     /gene="ITSN1"
                     /note="SH3; Region: Src homology 3 domains"
                     /db_xref="CDD:SH3"
     misc_feature    2855..3013
                     /gene="ITSN1"
                     /note="SH3; Region: SH3 domain"
                     /db_xref="CDD:pfam00018"
     misc_feature    2855..3013
                     /gene="ITSN1"
                     /note="SH3; Region: Src homology 3 domains"
                     /db_xref="CDD:SH3"
     misc_feature    3116..3274
                     /gene="ITSN1"
                     /note="SH3; Region: Src homology 3 domains"
                     /db_xref="CDD:SH3"
     misc_feature    3119..3274
                     /gene="ITSN1"
                     /note="SH3; Region: SH3 domain"
                     /db_xref="CDD:pfam00018"
     misc_feature    3332..3508
                     /gene="ITSN1"
                     /note="SH3; Region: Src homology 3 domains"
                     /db_xref="CDD:SH3"
     misc_feature    3335..3505
                     /gene="ITSN1"
                     /note="SH3; Region: SH3 domain"
                     /db_xref="CDD:pfam00018"
     misc_feature    3578..3736
                     /gene="ITSN1"
                     /note="SH3; Region: Src homology 3 domains"
                     /db_xref="CDD:SH3"
     misc_feature    3581..3733
                     /gene="ITSN1"
                     /note="SH3; Region: SH3 domain"
                     /db_xref="CDD:pfam00018"
     misc_feature    3830..4372
                     /gene="ITSN1"
                     /note="RhoGEF; Region: Guanine nucleotide exchange factor
                     for Rho/Rac/Cdc42-like GTPases"
                     /db_xref="CDD:RhoGEF"
     misc_feature    3830..4372
                     /gene="ITSN1"
                     /note="RhoGEF; Region: RhoGEF domain"
                     /db_xref="CDD:pfam00621"
     misc_feature    4895..5149
                     /gene="ITSN1"
                     /note="C2; Region: Protein kinase C conserved region 2
                     (CalB)"
                     /db_xref="CDD:C2"
     misc_feature    4898..5137
                     /gene="ITSN1"
                     /note="C2; Region: C2 domain"
                     /db_xref="CDD:pfam00168"
     misc_feature    167..406
                     /gene="ITSN1"
                     /note="encodes EH domain"
     misc_feature    767..1936
                     /gene="ITSN1"
                     /note="encodes EH domain"
     misc_feature    2324..2524
                     /gene="ITSN1"
                     /note="encodes SH3 domain"
     misc_feature    2843..3019
                     /gene="ITSN1"
                     /note="encodes SH3 domain"
     misc_feature    3110..3286
                     /gene="ITSN1"
                     /note="encodes SH3 domain"
     misc_feature    3326..3520
                     /gene="ITSN1"
                     /note="encodes SH3 domain"
     misc_feature    3569..3748
                     /gene="ITSN1"
                     /note="encodes SH3 domain"
     misc_feature    3836..4390
                     /gene="ITSN1"
                     /note="encodes GDS domain"
     misc_feature    4649..4819
                     /gene="ITSN1"
                     /note="encodes PH domain"
     misc_feature    4895..5143
                     /gene="ITSN1"
                     /note="encodes C2 domain"
     variation       5212
                     /gene="ITSN1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2834286"
     variation       5507
                     /gene="ITSN1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2154435"
     variation       5629
                     /gene="ITSN1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2834287"
BASE COUNT     2156 a   1652 c   1747 g   1692 t
ORIGIN      
        1 gcgtccctcc cagcggcgcg tgagcggcac tgatttgtcc ctggggcggc agcgcggacc
       61 cgcccggaga tgaggcgtcg attagcaagg taaaagtaac agaaccatgg ctcagtttcc
      121 aacacctttt ggtggcagcc tggatatctg ggccataact gtagaggaaa gagcgaagca
      181 tgatcagcag ttccatagtt taaagccaat atctggattc attactggtg atcaagctag
      241 aaactttttt tttcaatctg ggttacctca acctgtttta gcacagatat gggcactagc
      301 tgacatgaat aatgatggaa gaatggatca agtggagttt tccatagcta tgaaacttat
      361 caaactgaag ctacaaggat atcagctacc ctctgcactt ccccctgtca tgaaacagca
      421 accagttgct atttctagcg caccaccatt tggtatggga ggtatcgcca gcatgccacc
      481 gcttacagct gttgctccag tgccaatggg atccattcca gttgttggaa tgtctccaac
      541 cctagtatct tctgttccca cagcagctgt gccccccctg gctaacgggg ctccccctgt
      601 tatacaacct ctgcctgcat ttgctcatcc tgcagccaca ttgccaaaga gttcttcctt
      661 tagtagatct ggtccagggt cacaactaaa cactaaatta caaaaggcac agtcatttga
      721 tgtggccagt gtcccaccag tggcagagtg ggctgttcct cagtcatcaa ggctgaaata
      781 caggcaatta ttcaatagtc atgacaaaac tatgagtgga cacttaacag gtccccaagc
      841 aagaactatt cttatgcagt caagtttacc acaggctcag ctggcttcaa tatggaatct
      901 ttctgacatt gatcaagatg gaaaacttac agcagaggaa tttatcctgg caatgcacct
      961 cattgatgta gctatgtctg gccaaccact gccacctgtc ctgcctccag aatacattcc
     1021 accttctttt agaagagttc gatctggcag tggtatatct gtcataagct caacatctgt
     1081 agatcagagg ctaccagagg aaccagtttt agaagatgaa caacaacaat tagaaaagaa
     1141 attacctgta acgtttgaag ataaaaagcg ggagaacttt gaacgtggca acctggaact
     1201 ggagaaacga aggcaagctc tcctggaaca gcagcgcaag gagcaggagc gcctggccca
     1261 gctggagcgg gcggagcagg agaggaagga gcgtgagcgc caggagcaag agcgcaaaag
     1321 acaactggaa ctggagaagc aactggaaaa gcagcgggag ctagaacggc agagagagga
     1381 ggagaggagg aaagaaattg agaggcgaga ggctgcaaaa cgggaacttg aaaggcaacg
     1441 acaacttgag tgggaacgga atcgaaggca agaactacta aatcaaagaa acaaagaaca
     1501 agaggacata gttgtactga aagcaaagaa aaagactttg gaatttgaat tagaagctct
     1561 aaatgataaa aagcatcaac tagaagggaa acttcaagat atcagatgtc gattgaccac
     1621 ccaaaggcaa gaaattgaga gcacaaacaa atctagagag ttgagaattg ccgaaatcac
     1681 ccatctacag caacaattac aggaatctca gcaaatgctt ggaagactta ttccagaaaa
     1741 acagatactc aatgaccaat taaaacaagt tcagcagaac agtttgcaca gagattcact
     1801 tgttacactt aaaagagcct tagaagcaaa agaactagct cggcagcacc tacgagacca
     1861 actggatgaa gtggagaaag aaactagatc aaaactacag gagattgata ttttcaataa
     1921 tcagctgaag gaactaagag aaatacacaa taagcaacaa ctccagaagc aaaagtccat
     1981 ggaggctgaa cgactgaaac agaaagaaca agaacgaaag atcatagaat tagaaaaaca
     2041 aaaagaagaa gcccaaagac gagctcagga aagggacaag cagtggctgg agcatgtgca
     2101 gcaggaggac gagcatcaga gaccaagaaa actccacgaa gaggaaaaac tgaaaaggga
     2161 ggagagtgtc aaaaagaagg atggcgagga aaaaggcaaa caggaagcac aagacaagct
     2221 gggtcggctt ttccatcaac accaagaacc agctaagcca gctgtccagg caccctggtc
     2281 cactgcagaa aaaggtccac ttaccatttc tgcacaggaa aatgtaaaag tggtgtatta
     2341 ccgggcactg tacccctttg aatccagaag ccatgatgaa atcactatcc agccaggaga
     2401 catagtcatg gttaaagggg aatgggtgga tgaaagccaa actggagaac ccggctggct
     2461 tggaggagaa ttaaaaggaa agacagggtg gttccctgca aactatgcag agaaaatccc
     2521 agaaaatgag gttcccgctc cagtgaaacc agtgactgat tcaacatctg cccctgcccc
     2581 caaactggcc ttgcgtgaga cccccgcccc tttggcagta acctcttcag agccctccac
     2641 gacccctaat aactgggccg acttcagctc cacgtggccc accagcacga atgagaaacc
     2701 agaaacggat aactgggatg catgggcagc ccagccctct ctcaccgttc caagtgccgg
     2761 ccagttaagg cagaggtccg cctttactcc agccacggcc actggctcct ccccgtctcc
     2821 tgtgctaggc cagggtgaaa aggtggaggg gctacaagct caagccctat atccttggag
     2881 agccaaaaaa gacaaccact taaattttaa caaaaatgat gtcatcaccg tcctggaaca
     2941 gcaagacatg tggtggtttg gagaagttca aggtcagaag ggttggttcc ccaagtctta
     3001 cgtgaaactc atttcagggc ccataaggaa gtctacaagc atggattctg gttcttcaga
     3061 gagtcctgct agtctaaagc gagtagcctc tccagcagcc aagccggtcg tttcgggaga
     3121 agaatttatt gccatgtaca cttacgagag ttctgagcaa ggagatttaa cctttcagca
     3181 aggggatgtg attttggtta ccaagaaaga tggtgactgg tggacaggaa cagtgggcga
     3241 caaggccgga gtcttccctt ctaactatgt gaggcttaaa gattcagagg gctctggaac
     3301 tgctgggaaa acagggagtt taggaaaaaa acctgaaatt gcccaggtta ttgcctcata
     3361 caccgccacc ggccccgagc agctcactct cgcccctggt cagctgattt tgatccgaaa
     3421 aaagaaccca ggtggatggt gggaaggaga gctgcaagca cgtgggaaaa agcgccagat
     3481 aggctggttc ccagctaatt atgtaaagct tctaaaccct gggacgagca aaatcactcc
     3541 aacagagcca cctaagtcaa cagcattagc ggcagtgtgc caggtgattg ggatgtacga
     3601 ctacaccgcg cagaatgacg atgagctggc cttcaacaag ggccagatca tcaacgtcct
     3661 caacaaggag gaccctgact ggtggaaagg agaagtcaat ggacaagtgg ggctcttccc
     3721 atccaattat gtgaagctga ccacagacat ggacccaagc cagcaatggt gttcagactt
     3781 acatctcttg gatatgttga ccccaactga aagaaagcga caaggataca tccacgagct
     3841 cattgtcacc gaggagaact atgtgaatga cctgcagctg gtcacagaga tttttcaaaa
     3901 acccctgatg gagtctgagc tgctgacaga aaaagaggtt gctatgattt ttgtgaactg
     3961 gaaggagctg attatgtgta atatcaaact actaaaagcg ctgagagtcc gcaagaagat
     4021 gtccggggag aagatgcctg tgaagatgat tggagacatc ctgagcgcac agctgccgca
     4081 catgcagccc tacatccgct tctgcagccg ccagctcaac ggggctgccc tgatccagca
     4141 gaagacggac gaggccccag acttcaagga gttcgtcaaa agattggaaa tggatcctcg
     4201 gtgtaaaggg atgccactct ctagttttat actgaagcct atgcaacggg taacaagata
     4261 cccactgatc attaaaaata tcctggaaaa cacccctgaa aaccacccgg accacagcca
     4321 cttgaagcac gccctggaga aggcggaaga gctctgttcc caggtgaacg aaggggtgcg
     4381 ggagaaggag aactctgacc ggctggagtg gatccaggcc cacgtgcagt gtgaaggcct
     4441 gtctgagcaa cttgtgttca attcagtgac caattgcttg gggccgcgca aatttctgca
     4501 cagtgggaag ctctacaagg ccaagaacaa caaggagctg tatggcttcc ttttcaacga
     4561 cttcctcctg ctgactcaga tcacgaagcc tttggggtct tctggcaccg acaaagtctt
     4621 cagccccaaa tcaaacctgc agtataaaat gtataaaaca cctattttcc taaatgaggt
     4681 tctagtaaaa ttacccaccg acccttctgg agacgagccc atcttccaca tctcccacat
     4741 tgaccgcgtc tatactctcc gagcagaaag cataaatgaa aggactgcct gggtgcagaa
     4801 aatcaaagct gcttctgaac tttacataga gactgagaaa aagaagcgcg agaaagcgta
     4861 cctggtccgt tcccaaaggg caacaggcat tggaaggttg atggtgaacg tggttgaagg
     4921 catcgagttg aaaccctgtc ggtcacatgg aaagagcaac ccgtactgtg aggtgaccat
     4981 gggttcccag tgccacatca ccaagacgat ccaggacact ctgaacccca agtggaattc
     5041 caactgccag ttcttcatcc gagacctgga gcaggaagtc ctctgcatca ctgtgttcga
     5101 gagggaccag ttctcaccag atgatttttt gggtcggacg gagatccgtg tggcggacat
     5161 caagaaagac cagggctcca aaggtccagt tacgaagtgt cttctgctgc acgaagtccc
     5221 cacgggagag attgtggtcc gcttggacct gcagttgttt gatgagccgt aggcagcggg
     5281 ctcagggtgt gctcagcagg gtcccagccc acggccacac atgctgtctg gaaattgtat
     5341 tccttttcta agaaaccacc atttggtatt cagtcacagg gatatgggat ggcaaagaca
     5401 ggcccctcaa agctcctagg aatcattctc gacaatcctc cctgccccga aacaatttcc
     5461 tgtttcatga aacaaagctg tgttttcctt tgtcctcact acaggtctca ttatggcttc
     5521 tagggtcgct gaaatcccat agccctcaac agggtgcagc tgggagtcta gccccttccc
     5581 gggcttgagg gatgggtctg gttactataa aatagattta taaatgcaat gtctatattt
     5641 ttggagaact catgtaaccc tcctgtttct tacatccacc agtccccaag tagacttctt
     5701 ggcctacaat gcccagtcct tggtgtgagt ttagaaacaa ttatgacggt cctgtcattg
     5761 cttcagaatc ccatctctcc tgcagggaaa tgctgcctag agctgatcac tcggtgagac
     5821 ggtctgatca ggccctggct tagctctttg aagagctggt ctatggaagt ttccagcatg
     5881 tgcaccgtta tagccgttcc ttccccctct aggccttgta ttaatatatg tcaatgaaaa
     5941 cacactggtg tattgttgcg tggattcagt tctgattccc agcatgctta gaatatggtc
     6001 acagaaagtc attatctaga aagtcacccc tctgctggat cagatcacta caggtcactg
     6061 gaaaggcaac tttacaatgt tgggtcactg ggtctcggtt ggcagccatg ttggaaaaat
     6121 ctcttttggc tcggaggcct gtgatatttc atagcagcag tcgttgctgg tgacctgttc
     6181 tgtgcttgaa tgtgctgaat cctgattgtt gtaggacatt tcaacagctc tttttggtac
     6241 gttccccaaa aagccatgtc ctagatcccc aaggcgtgaa aaggaaaaat atcaagctgg
     6301 aggttgggaa agaaaatgaa ggcagtccat tatgtggtgg gtgaaagacc ctaggaggat
     6361 gcaagccccg cacatcccgg ggcaaagacc taagacactt ttccaccctc caccacccca
     6421 acctcacata atatgcttgt tgcaagagtc aggactttat gactatgtgc caagctgttt
     6481 ggtttgagtt ctttaatttt tttttccctt aaatgccagg agatcatctg gttagttaga
     6541 tagtaacttg atttgctaat gaaaagtggg ggccgtgttt tgtttgcatg ttaatattct
     6601 cataatccta gtttgttgtg gtcatgaaat gccctttgca tgttctgttg gtactggagt
     6661 ctagctttcc tgtactagat ggtgttctct ttgattgtag gtccttagac tttaattagg
     6721 gttatcaaag tgctttctaa atgatagcat cagcgttgtg gcagagtacc tcctttgctg
     6781 ggaactgaat gtgtagggtt atcatttccc atgagagccc ggtcatactt caagcaattt
     6841 ttttaaaagt gtgtgttgga aaggacaaca aagtttacat ttcatacttt taagaaatac
     6901 tttattattt atttattgaa gatagtgtag aattttgtat caagaacaac agacataagt
     6961 attttttgaa acaagcaaat ataccctgta gttagaaact ttcaactgaa catgttagag
     7021 accaagttta acttcaggca tgcatttgtt taccatttcc cagcagaaaa catggttaaa
     7081 atactttaag tttatatttt ttgatgttgt taagaaactt ttaaattaaa tctataaata
     7141 gacatgcaac tcatgctttc ctatttctat aaccaacacc gtttgtttag tgtatttatg
     7201 aaagatatgc taccatggta gaaagaaaag tattcaatgt gtaaatt
//



Revised: July 5, 2002.
 
 


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Oct 21 2002 11:56:56 

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1: NM_002502. Homo sapiens nucl...[gi:19923222] Links  


LOCUS       NFKB2                   3001 bp    mRNA    linear   PRI 04-APR-2002
DEFINITION  Homo sapiens nuclear factor of kappa light polypeptide gene
            enhancer in B-cells 2 (p49/p100) (NFKB2), mRNA.
ACCESSION   NM_002502
VERSION     NM_002502.2  GI:19923222
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from X61498.1.
            On Apr 4, 2002 this sequence version replaced gi:4505382.
FEATURES             Location/Qualifiers
     source          1..3001
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24"
     gene            1..3001
                     /gene="NFKB2"
                     /note="LYT10; LYT-10"
                     /db_xref="LocusID:4791"
                     /db_xref="MIM:164012"
     CDS             164..2965
                     /gene="NFKB2"
                     /note="Nuclear factor of kappa light chain gene enhancer
                     in B-cells 2"
                     /codon_start=1
                     /product="nuclear factor of kappa light polypeptide gene
                     enhancer in B-cells 2 (p49/p100)"
                     /protein_id="NP_002493.2"
                     /db_xref="GI:19923223"
                     /db_xref="LocusID:4791"
                     /db_xref="MIM:164012"
                     /translation="MESCYNPGLDGIIEYDDFKLNSSIVEPKEPAPETADGPYLVIVE
                     QPKQRGFRFRYGCEGPSHGGLPGASSEKGRKTYPTVKICNYEGPAKIEVDLVTHSDPP
                     RAHAHSLVGKQCSELGICAVSVGPKDMTAQFNNLGVLHVTKKNMMGTMIQKLQRQRLR
                     SRPQGLTEAEQRELEQEAKELKKVMDLSIVRLRFSAFLRASDGSFSLPLKPVTSQPIH
                     DSKSPGASNLKISRMDKTAGSVRGGDEVYLLCDKVQKDDIEVRFYEDDENGWQAFGDF
                     SPTDVHKQYAIVFRTPPYHKMKIERPVTVFLQLKRKRGGDVSDSKQFTYYPLVEDKEE
                     VQRKRRKALPTFSQPFGGGSHMGGGSGGAAGGYGGAGGGGSLGFFPSSLAYSPYQSGA
                     GPMRCYPGGGGGAQMAATVPSRDSGEEAAEPSAPSRTPQCEPQAPEMLQRAREYNARL
                     FGLAHAAPSPTRLLRHRGRRALLAGQRHLLTAQDENGDTPLHLAIIHGQTSVIEQIVY
                     VIHHAQDLGVVNLTNHLHQTPLHLAVITGQTSVVSFLLRVGADPALLDRHGDSAMHLA
                     LRAGAGAPELLRALLQSGAPAVPQLLHMPDFEGLYPVHLAVRARSPECLDLLVDSGAE
                     VEATERQGGRTALHLATEMEELGLVTHLVTKLRANVNARTFAGNTPLHLAAGLGYPTL
                     TRLLLKAGADIHAENEEPLCPLPSPPTSDSDSDSEGPEKDTRSSFRGHTPLDLTCSTL
                     VKTLLLNAAQNTMEPPLTPPSPAGPGLSLGDTALQNLEQLLDGPEAQGSWAELAERLG
                     LRSLVDTYRQTTSPSGSLLRSYELAGGDLAGLLEALSDMGLEEGVRLLRGPETRDKLP
                     STEVKEDSAYGSQSVEQEAEKLGPPPEPPGGLSHGHPQPQVTDLLPAPSPLPGPPVQR
                     PHLFQILFNTPHPPLSWDK"
     misc_feature    272..823
                     /gene="NFKB2"
                     /note="RHD; Region: Rel homology domain (RHD)"
                     /db_xref="CDD:pfam00554"
     misc_feature    842..1141
                     /gene="NFKB2"
                     /note="IPT; Region: ig-like, plexins, transcription
                     factors"
                     /db_xref="CDD:smart00429"
     misc_feature    848..1141
                     /gene="NFKB2"
                     /note="TIG; Region: IPT/TIG domain"
                     /db_xref="CDD:pfam01833"
     misc_feature    1742..1834
                     /gene="NFKB2"
                     /note="ank; Region: Ank repeat"
                     /db_xref="CDD:pfam00023"
     misc_feature    1955..2047
                     /gene="NFKB2"
                     /note="ank; Region: Ank repeat"
                     /db_xref="CDD:pfam00023"
     misc_feature    2162..2248
                     /gene="NFKB2"
                     /note="ank; Region: Ank repeat"
                     /db_xref="CDD:pfam00023"
     misc_feature    2162..2248
                     /gene="NFKB2"
                     /note="ANK; Region: ankyrin repeats"
                     /db_xref="CDD:smart00248"
     variation       801
                     /gene="NFKB2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3188993"
     variation       2783
                     /gene="NFKB2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3204369"
BASE COUNT      643 a    924 c    912 g    522 t
ORIGIN      
        1 actttcctgc cccttccccg gccaagccca actccggatc tcgctctcca ccggatctca
       61 cccgccacac ccggacaggc ggctggagga ggcgggcgtc taaaattctg ggaagcagaa
      121 cctggccgga gccactagac agagccgggc ctagcccaga gacatggaga gttgctacaa
      181 cccaggtctg gatggtatta ttgaatatga tgatttcaaa ttgaactcct ccattgtgga
      241 acccaaggag ccagccccag aaacagctga tggcccctac ctggtgatcg tggaacagcc
      301 taagcagaga ggcttccgat ttcgatatgg ctgtgaaggc ccctcccatg gaggactgcc
      361 cggtgcctcc agtgagaagg gccgaaagac ctatcccact gtcaagatct gtaactacga
      421 gggaccagcc aagatcgagg tggacctggt aacacacagt gacccacctc gtgctcatgc
      481 ccacagtctg gtgggcaagc aatgctcgga gctggggatc tgcgccgttt ctgtggggcc
      541 caaggacatg actgcccaat ttaacaacct gggtgtcctg catgtgacta agaagaacat
      601 gatggggact atgatacaaa aacttcagag gcagcggctc cgctctaggc cccagggcct
      661 tacggaggcc gagcagcggg agctggagca agaggccaaa gaactgaaga aggtgatgga
      721 tctgagtata gtgcggctgc gcttctctgc cttccttaga gccagtgatg gctccttctc
      781 cctgcccctg aagccagtca cctcccagcc catccatgat agcaaatctc cgggggcatc
      841 aaacctgaag atttctcgaa tggacaagac agcaggctct gtgcggggtg gagatgaagt
      901 ttatctgctt tgtgacaagg tgcagaaaga tgacattgag gttcggttct atgaggatga
      961 tgagaatgga tggcaggcct ttggggactt ctctcccaca gatgtgcata aacagtatgc
     1021 cattgtgttc cggacacccc cctatcacaa gatgaagatt gagcggcctg taacagtgtt
     1081 tctgcaactg aaacgcaagc gaggagggga cgtgtctgat tccaaacagt tcacctatta
     1141 ccctctggtg gaagacaagg aagaggtgca gcggaagcgg aggaaggcct tgcccacctt
     1201 ctcccagccc ttcgggggtg gctcccacat gggtggaggc tctgggggtg cagccggggg
     1261 ctacggagga gctggaggag gtggcagcct cggtttcttc ccctcctccc tggcctacag
     1321 cccctaccag tccggcgcgg gccccatgcg gtgctacccg ggaggcgggg gcggggcgca
     1381 gatggccgcc acggtgccca gcagggactc cggggaggaa gccgcggagc cgagcgcccc
     1441 ctccaggacc ccccagtgcg agccgcaggc cccggagatg ctgcagcgag ctcgagagta
     1501 caacgcgcgc ctgttcggcc tggcgcacgc agccccgagc cctactcgac tactgcgtca
     1561 ccgcggacgc cgcgcgctgc tggcgggaca gcgccacctg ctgacggcgc aggacgagaa
     1621 cggagacaca ccactgcacc tagccatcat ccacgggcag accagtgtca ttgagcagat
     1681 agtctatgtc atccaccacg cccaggacct cggcgttgtc aacctcacca accacctgca
     1741 ccagacgccc ctgcacctgg cggtgatcac ggggcagacg agtgtggtga gctttctgct
     1801 gcgggtaggt gcagacccag ctctgctgga tcggcatgga gactcagcca tgcatctggc
     1861 gctgcgggca ggcgctggtg ctcctgagct gctgcgtgca ctgcttcaga gtggagctcc
     1921 tgctgtgccc cagctgttgc atatgcctga ctttgaggga ctgtatccag tacacctggc
     1981 ggtccgagcc cgaagccctg agtgcctgga tctgctggtg gacagtgggg ctgaagtgga
     2041 ggccacagag cggcaggggg gacgaacagc cttgcatcta gccacagaga tggaggagct
     2101 ggggttggtc acccatctgg tcaccaagct ccgggccaac gtgaacgctc gcacctttgc
     2161 gggaaacaca cccctgcacc tggcagctgg actggggtac ccgaccctca cccgcctcct
     2221 tctgaaggct ggtgctgaca tccatgctga aaacgaggag cccctgtgcc cactgccttc
     2281 accccctacc tctgatagcg actcggactc tgaagggcct gagaaggaca cccgaagcag
     2341 cttccggggc cacacgcctc ttgacctcac ttgcagcacc ttggtgaaga ccttgctgct
     2401 aaatgctgct cagaacacca tggagccacc cctgaccccg cccagcccag cagggccggg
     2461 actgtcactt ggtgatacag ctctgcagaa cctggagcag ctgctagacg ggccagaagc
     2521 ccagggcagc tgggcagagc tggcagagcg tctggggctg cgcagcctgg tagacacgta
     2581 ccgacagaca acctcaccca gtggcagcct cctgcgcagc tacgagctgg ctggcgggga
     2641 cctggcaggt ctactggagg ccctgtctga catgggccta gaggagggag tgaggctgct
     2701 gaggggtcca gaaacccgag acaagctgcc cagcacagag gtgaaggaag acagtgcgta
     2761 cgggagccag tcagtggagc aggaggcaga gaagctgggc ccaccccctg agccaccagg
     2821 agggctctcg cacgggcacc cccagcctca ggtgactgac ctgctgcctg cccccagccc
     2881 ccttcccgga ccccctgtac agcgtcccca cctatttcaa atcttattta acaccccaca
     2941 cccacccctc agttgggaca aataaaggat tctcatggga aggggaggac cccgaattcc
     3001 t
//



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1: NM_005564. Homo sapiens lipo...[gi:5031852] Links  


LOCUS       LCN2                     597 bp    mRNA    linear   PRI 01-NOV-2000
DEFINITION  Homo sapiens lipocalin 2 (oncogene 24p3) (LCN2), mRNA.
ACCESSION   NM_005564
VERSION     NM_005564.1  GI:5031852
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 597)
  AUTHORS   Kjeldsen,L., Johnsen,A.H., Sengelov,H. and Borregaard,N.
  TITLE     Isolation and primary structure of NGAL, a novel protein associated
            with human neutrophil gelatinase
  JOURNAL   J. Biol. Chem. 268 (14), 10425-10432 (1993)
  MEDLINE   93252928
   PUBMED   7683678
REFERENCE   2  (bases 1 to 597)
  AUTHORS   Bundgaard,J.R., Sengelov,H., Borregaard,N. and Kjeldsen,L.
  TITLE     Molecular cloning and expression of a cDNA encoding NGAL: a
            lipocalin expressed in human neutrophils
  JOURNAL   Biochem. Biophys. Res. Commun. 202 (3), 1468-1475 (1994)
  MEDLINE   94338365
   PUBMED   8060329
REFERENCE   3  (bases 1 to 597)
  AUTHORS   Cowland,J.B. and Borregaard,N.
  TITLE     Molecular characterization and pattern of tissue expression of the
            gene for neutrophil gelatinase-associated lipocalin from humans
  JOURNAL   Genomics 45 (1), 17-23 (1997)
  MEDLINE   97480711
   PUBMED   9339356
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from X99133.1.
FEATURES             Location/Qualifiers
     source          1..597
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34"
                     /cell_type="leukocyte"
     gene            1..597
                     /gene="LCN2"
                     /note="NGAL"
                     /db_xref="LocusID:3934"
                     /db_xref="MIM:600181"
     CDS             1..597
                     /gene="LCN2"
                     /codon_start=1
                     /product="lipocalin 2 (oncogene 24p3)"
                     /protein_id="NP_005555.1"
                     /db_xref="GI:5031853"
                     /db_xref="LocusID:3934"
                     /db_xref="MIM:600181"
                     /translation="MPLGLLWLGLALLGALHAQAQDSTSDLIPAPPLSKVPLQQNFQD
                     NQFQGKWYVVGLAGNAILREDKDPQKMYATIYELKEDKSYNVTSVLFRKKKCDYWIRT
                     FVPGCQPGEFTLGNIKSYPGLTSYLVRVVSTNYNQHAMVFFKKVSQNREYFKITLYGR
                     TKELTSELKENFIRFSKYLGLPENHIVFPVPIDQCIDG"
     misc_feature    136..567
                     /gene="LCN2"
                     /note="lipocalin; Region: Lipocalin / cytosolic fatty-acid
                     binding protein family"
                     /db_xref="CDD:pfam00061"
     prim_transcript 1..597
                     /partial
                     /gene="LCN2"
     variation       447
                     /gene="LCN2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:11927"
BASE COUNT      158 a    167 c    145 g    127 t
ORIGIN      
        1 atgcccctag gtctcctgtg gctgggccta gccctgttgg gggctctgca tgcccaggcc
       61 caggactcca cctcagacct gatcccagcc ccacctctga gcaaggtccc tctgcagcag
      121 aacttccagg acaaccaatt ccaggggaag tggtatgtgg taggcctggc agggaatgca
      181 attctcagag aagacaaaga cccgcaaaag atgtatgcca ccatctatga gctgaaagaa
      241 gacaagagct acaatgtcac ctccgtcctg tttaggaaaa agaagtgtga ctactggatc
      301 aggacttttg ttccaggttg ccagcccggc gagttcacgc tgggcaacat taagagttac
      361 cctggattaa cgagttacct cgtccgagtg gtgagcacca actacaacca gcatgctatg
      421 gtgttcttca agaaagtttc tcaaaacagg gagtacttca agatcaccct ctacgggaga
      481 accaaggagc tgacttcgga actaaaggag aacttcatcc gcttctccaa atatctgggc
      541 ctccctgaaa accacatcgt cttccctgtc ccaatcgacc agtgtatcga cggctga
//



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1: NM_002356. Homo sapiens myri...[gi:11125771] Links  


LOCUS       MARCKS                  2589 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens myristoylated alanine-rich protein kinase C substrate
            (MARCKS), mRNA.
ACCESSION   NM_002356
VERSION     NM_002356.4  GI:11125771
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2589)
  AUTHORS   Harlan,D.M., Graff,J.M., Stumpo,D.J., Eddy,R.L. Jr., Shows,T.B.,
            Boyle,J.M. and Blackshear,P.J.
  TITLE     The human myristoylated alanine-rich C kinase substrate (MARCKS)
            gene (MACS). Analysis of its gene product, promoter, and
            chromosomal localization
  JOURNAL   J. Biol. Chem. 266 (22), 14399-14405 (1991)
  MEDLINE   91317795
   PUBMED   1860846
REFERENCE   2  (bases 1 to 2589)
  AUTHORS   Hartwig,J.H., Thelen,M., Rosen,A., Janmey,P.A., Nairn,A.C. and
            Aderem,A.
  TITLE     MARCKS is an actin filament crosslinking protein regulated by
            protein kinase C and calcium-calmodulin
  JOURNAL   Nature 356 (6370), 618-622 (1992)
  MEDLINE   92220195
   PUBMED   1560845
REFERENCE   3  (sites)
  AUTHORS   Sakai,K., Hirai,M., Kudoh,J., Minoshima,S. and Shimizu,N.
  TITLE     Molecular cloning and chromosomal mapping of a cDNA encoding human
            80K-L protein: major substrate for protein kinase C
  JOURNAL   Genomics 14 (1), 175-178 (1992)
  MEDLINE   93052291
   PUBMED   1427823
REFERENCE   4  (bases 1 to 2589)
  AUTHORS   Blackshear,P.J.
  TITLE     The MARCKS family of cellular protein kinase C substrates
  JOURNAL   J. Biol. Chem. 268 (3), 1501-1504 (1993)
  MEDLINE   93131879
   PUBMED   8420923
REFERENCE   5  (bases 1 to 2589)
  AUTHORS   Taniguchi,H. and Manenti,S.
  TITLE     Interaction of myristoylated alanine-rich protein kinase C
            substrate (MARCKS) with membrane phospholipids
  JOURNAL   J. Biol. Chem. 268 (14), 9960-9963 (1993)
  MEDLINE   93252971
   PUBMED   8486722
REFERENCE   6  (bases 1 to 2589)
  AUTHORS   Rao,P.H., Murty,V.V., Gaidano,G., Hauptschein,R., Dalla-Favera,R.
            and Chaganti,R.S.
  TITLE     Subregional mapping of 8 single copy loci to chromosome 6 by
            fluorescence in situ hybridization
  JOURNAL   Cytogenet. Cell Genet. 66 (4), 272-273 (1994)
  MEDLINE   94215320
   PUBMED   8162705
REFERENCE   7  (bases 1 to 2589)
  AUTHORS   Aderem,A.
  TITLE     The MARCKS family of protein kinase-C substrates
  JOURNAL   Biochem. Soc. Trans. 23 (3), 587-591 (1995)
  MEDLINE   96077232
   PUBMED   8566422
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D10522.1.
            On Nov 8, 2000 this sequence version replaced gi:11064246.
            Summary: The protein encoded by this gene is a substrate for
            protein kinase C. It is localized to the plasma membrane and is an
            actin filament crosslinking protein. Phosphorylation by protein
            kinase C or binding to calcium-calmodulin inhibits its association
            with actin and with the plasma membrane, leading to its presence in
            the cytoplasm. The protein is thought to be involved in cell
            motility, phagocytosis, membrane trafficking and mitogenesis.
FEATURES             Location/Qualifiers
     source          1..2589
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.2"
     gene            1..2589
                     /gene="MARCKS"
                     /note="MACS; 80K-L; PKCSL; MRACKS; PRKCSL"
                     /db_xref="LocusID:4082"
                     /db_xref="MIM:177061"
     variation       289..291
                     /gene="MARCKS"
                     /allele="-"
                     /allele="GCT"
                     /db_xref="dbSNP:3832411"
     CDS             370..1368
                     /gene="MARCKS"
                     /note="phosphomyristin; myristoylated alanine-rich protein
                     kinase C substrate (MARCKS, 80K-L)"
                     /codon_start=1
                     /product="myristoylated alanine-rich protein kinase C
                     substrate"
                     /protein_id="NP_002347.4"
                     /db_xref="GI:11125772"
                     /db_xref="LocusID:4082"
                     /db_xref="MIM:177061"
                     /translation="MGAQFSKTAAKGEAAAERPGEAAVASSPSKANGQENGHVKVNGD
                     ASPAAAESGAKEELQANGSAPAADKEEPAAAGSGAASPSSAEKGEPAAAAAPEAGASP
                     VEKEAPAEGEAAEPGSATAAEGEAASAASSTSSPKAEDGATPSPSNETPKKKKKRFSF
                     KKSFKLSGFSFKKNKKEAGEGGEAEAPAAEGGKDEAAGGAAAAAAEAGAASGEQAAAP
                     GEEAAAGEEGAAGGDPQEAKPQEAAVAPEKPPASDETKAAEEPSKVEEKKAEEAGASA
                     AACEAPSAAGPGAPPEQEAAPAEEPAAAAASSACAAPSQEAQPECSPEAPPAEAAE"
     variation       1035
                     /gene="MARCKS"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1049560"
     variation       1069
                     /gene="MARCKS"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1049561"
     variation       1190
                     /gene="MARCKS"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3734458"
     variation       1235
                     /gene="MARCKS"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1049563"
     variation       1674
                     /gene="MARCKS"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1063446"
     variation       1719
                     /gene="MARCKS"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:12307"
     variation       1952
                     /gene="MARCKS"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1049866"
     variation       1983
                     /gene="MARCKS"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:10585"
     variation       1984
                     /gene="MARCKS"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1049873"
     variation       2366
                     /gene="MARCKS"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3210346"
     variation       2449
                     /gene="MARCKS"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1063524"
     polyA_signal    2570..2575
                     /gene="MARCKS"
     polyA_site      2589
                     /gene="MARCKS"
BASE COUNT      608 a    659 c    682 g    640 t
ORIGIN      
        1 caaccaggga gatttctcca ttttcctctt gtctacagtg cggctacaaa tctgggattt
       61 ttttattact tctttttttt tcgaactaca cttgggctcc tttttttgtg ctcgactttt
      121 ccaccctttt tccctccctc ctgtgctgct gctttttgat ctcttcgact aaaatttttt
      181 tatccggagt gtatttaatc ggttctgttc tgtcctctcc accaccccca cccccctccc
      241 tccggtgtgt gtgccgctgc cgctgttgcc gccgccgctg ctgctgctgc tcgccccgtc
      301 gttacaccaa cccgaggctc tttgtttccc ctcttggatc tgttgagttt ctttgttgaa
      361 gaagccagca tgggtgccca gttctccaag accgcagcga agggagaagc cgccgcggag
      421 aggcctgggg aggcggctgt ggcctcgtcg ccttccaaag cgaacggaca ggagaatggc
      481 cacgtgaagg taaacggcga cgcttcgccc gcggccgccg agtcgggcgc caaggaggag
      541 ctgcaggcca acggcagcgc cccggccgcc gacaaggagg agcccgcggc cgccgggagc
      601 ggggcggcgt cgccctcctc ggccgagaaa ggtgagccgg ccgccgccgc tgcccccgag
      661 gccggggcca gcccggtaga gaaggaggcc cccgcggaag gcgaggctgc cgagcccggc
      721 tcggccacgg ccgcggaggg agaggccgcg tcggccgcct cctcgacttc ttcgcccaag
      781 gccgaggacg gggccacgcc ctcgcccagc aacgagaccc cgaaaaaaaa aaagaagcgc
      841 ttttccttca agaagtcttt caagctgagc ggcttctcct tcaagaagaa caagaaggag
      901 gctggagaag gcggtgaggc tgaggcgccc gctgccgaag gcggcaagga cgaggccgcc
      961 gggggcgcag ctgcggccgc cgccgaggcg ggcgcggcct ccggggagca ggcagcggcg
     1021 ccgggcgagg aggcggcagc gggcgaggag ggggcggcgg gtggcgaccc gcaggaggcc
     1081 aagccccagg aggccgctgt cgcgccagag aagccgcccg ccagcgacga gaccaaggcc
     1141 gccgaggagc ccagcaaggt ggaggagaaa aaggccgagg aggccggggc cagcgccgcc
     1201 gcctgcgagg ccccctccgc cgccgggccc ggcgcgcccc cggagcagga ggcagccccc
     1261 gcggaggagc ccgcggccgc cgcagcctcg tcagcctgcg cagccccctc acaggaggcc
     1321 cagcccgagt gcagtccaga agccccccca gcggaggcgg cagagtaaaa gagcaagctt
     1381 ttgtgagata atcgaagaac ttttctcccc cgtttgtttg ttggagtggt gccaggtact
     1441 gttttggaga acttgtctac aaccagggat tgattttaaa gatgtctttt tttattttac
     1501 ttttttttaa gcaccaaatt ttgttgtttt tttttttctc ccctccccac agatcccatc
     1561 tcaaatcatt ctgttaacca ccattccaac aggtcgagga gagcttaaac accttcttcc
     1621 tctgccttgt ttctctttta ttttttattt tttcgcatca gtattaatgt ttttgcatac
     1681 tttgcatctt tattcaaaag tgtaaacttt ctttgtcaat ctatggacat gcccatatat
     1741 gaaggagatg ggtgggtcaa aaagggatat caaatgaagt gataggggtc acaatgggga
     1801 aattgaagtg gtgcataaca ttgccaaaat agtgtgccac tagaaatggt gtaaaggctg
     1861 tctttttttt tttttttaaa gaaaagttat taccatgtat tttgtgaggc aggtttacaa
     1921 cactacaagt cttgagttaa gaaggaaaga ggaaaaaaga aaaaacacca atacccagat
     1981 ttaaaaaaaa aaaaacgatc atagtcttag gagttcattt aaaccatagg aacttttcac
     2041 ttatctcatg ttagctgtac cagtcagtga ttaagtagaa ctacaagttg tataggcttt
     2101 attgtttatt gctggtttat gaccttaata aagtgtaatt atgtattacc agcagggtgt
     2161 ttttaactgt gactattgta taaaaacaaa tcttgatatc cagaagcaca tgaagtttgc
     2221 aactttccac cctgcccatt tttgtaaaac tgcagtcatc ttggaccttt taaaacacaa
     2281 attttaaact caaccaagct gtgataagtg gaatggttac tgtttatact gtggtatgtt
     2341 tttgattaca gcagataatg ctttcttttc cagtcgtctt tgagaataaa ggaaaaaaaa
     2401 tcttcagatg caatggtttt gtgtagcatc ttgtctatca tgttttgtaa atactggaga
     2461 agctttgacc aatttgactt agagatggaa tgtaactttg cttacaaaaa ttgctattaa
     2521 actcctgctt aaggtgttct aattttctgt gagcacacta aaagcgaaaa ataaatgtga
     2581 ataaaatgt
//



Revised: July 5, 2002.
 
 


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1: NM_012383. Homo sapiens oste...[gi:21361408] Links  


LOCUS       OSTF1                   1229 bp    mRNA    linear   PRI 10-JUN-2002
DEFINITION  Homo sapiens osteoclast stimulating factor 1 (OSTF1), mRNA.
ACCESSION   NM_012383
VERSION     NM_012383.2  GI:21361408
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1229)
  AUTHORS   Strausberg,R.
  TITLE     Homo sapiens osteoclast stimulating factor 1 (OSTF1), mRNA
  JOURNAL   Unpublished (2001)
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC007459.1.
            On Jun 10, 2002 this sequence version replaced gi:6912563.
FEATURES             Location/Qualifiers
     source          1..1229
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.1-24.2"
                     /clone="MGC:12230 IMAGE:4052054"
                     /tissue_type="Kidney, hypernephroma"
                     /clone_lib="NIH_MGC_58"
                     /lab_host="DH10B"
                     /note="Vector: pDNR-LIB"
     gene            1..1229
                     /gene="OSTF1"
                     /note="OSF; SH3P2"
                     /db_xref="LocusID:26578"
     CDS             109..762
                     /gene="OSTF1"
                     /codon_start=1
                     /product="osteoclast stimulating factor 1"
                     /protein_id="NP_036515.2"
                     /db_xref="GI:21361409"
                     /db_xref="LocusID:26578"
                     /translation="MSKPPPKPVKPGEGGQVKVFRALYTFEPRTPDELYFEEGDIIYI
                     TDMSDTNWWKGTSKGRTGLIPSNYVAEQAESIDNPLHEAAKRGNLSWLRECLDNRVGV
                     NGLDKAGSTALYWACHGGHKDIVEMLFTQPNIELNQQNKLGDTALHAAAWKGYADIVQ
                     LFLAKGARTDLRNIEKKLAFDMATNAACASLLKKKQGTDAVRTLSNAEDYLDDEDSD"
     misc_feature    166..321
                     /gene="OSTF1"
                     /note="SH3; Region: SH3 domain"
                     /db_xref="CDD:pfam00018"
     misc_feature    166..321
                     /gene="OSTF1"
                     /note="SH3; Region: Src homology 3 domains"
                     /db_xref="CDD:smart00326"
     misc_feature    433..531
                     /gene="OSTF1"
                     /note="ank; Region: Ank repeat"
                     /db_xref="CDD:pfam00023"
     misc_feature    535..627
                     /gene="OSTF1"
                     /note="ank; Region: Ank repeat"
                     /db_xref="CDD:pfam00023"
     misc_feature    535..609
                     /gene="OSTF1"
                     /note="ANK; Region: ankyrin repeats"
                     /db_xref="CDD:smart00248"
     variation       747
                     /gene="OSTF1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2146044"
     variation       754
                     /gene="OSTF1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1804671"
     variation       962
                     /gene="OSTF1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1052199"
BASE COUNT      400 a    213 c    283 g    333 t
ORIGIN      
        1 acggttgtaa gccagacaaa aagaactggg gtgcccggag tgccaggtgg cgggcaagcg
       61 gtgggctttt cggcggggtc tttaggattt gcagctccag gaagcgagat gtcgaagccg
      121 ccacccaaac cagtcaaacc aggtgaggga gggcaagtta aagtcttcag agccctgtat
      181 acgtttgaac ccagaactcc agatgaatta tactttgagg aaggtgatat tatctacatt
      241 actgacatga gcgataccaa ttggtggaaa ggcacctcca aaggcaggac tggactaatt
      301 ccaagcaact atgtggctga gcaggcagaa tccattgaca atccattgca tgaagcagca
      361 aaaagaggca acttgagctg gttgagagag tgtttggaca acagagtggg tgttaatggc
      421 ttagacaaag ctggaagcac tgccttatac tgggcttgcc acgggggcca caaagatata
      481 gtggaaatgc tatttactca accaaatatt gaactgaacc agcagaacaa gttgggagat
      541 acagctttgc atgctgctgc ctggaagggt tatgcagata tcgtccagtt gtttctggca
      601 aaaggtgcta gaacagactt aagaaacatt gagaagaagc tggccttcga catggctacc
      661 aatgctgcct gtgcatctct cctgaaaaag aaacagggaa cagatgcagt tcgaacatta
      721 agcaatgccg aggactatct cgatgatgaa gactcagatt aattcctttc tggagctttg
      781 agatctaaaa cttctgttgc ttttgccatt ccaaaacttt gtctttgcca gaaaagtgtt
      841 ggtaactata aagaaaatta tatatgaaca cggcagtgtt gcactgtgtt tgagtagaac
      901 gtgtaaatga attgttccca cctttggttt gccagtaagt gactggattc ttggcacatt
      961 tgtgttcacc aaagtagaac aagaagatat tatttctatt tatcaagcaa aaggaatttt
     1021 aagatttttt tttctttaaa aacaaattag gatttttttt tttttttttt ttttttagtt
     1081 aaaatgcttt acctcaatgg ttgagatatt ttgaatggat ttttcaaggg ggggaaatgc
     1141 ttattataat aataaaccaa aatacttaac agaaaattgt cagctattct gacaaaaaca
     1201 aaaaaaaaaa aaaaaaaaaa aaaaaaaaa
//



Revised: July 5, 2002.
 
 


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1: NM_001710. Homo sapiens B-fa...[gi:14550403] Links  


LOCUS       BF                      2477 bp    mRNA    linear   PRI 25-JUN-2001
DEFINITION  Homo sapiens B-factor, properdin (BF), mRNA.
ACCESSION   NM_001710
VERSION     NM_001710.2  GI:14550403
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2477)
  AUTHORS   Woods,D.E., Markham,A.F., Ricker,A.T., Goldberger,G. and
            Colten,H.R.
  TITLE     Isolation of cDNA clones for the human complement protein factor B,
            a class III major histocompatibility complex gene product
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 79 (18), 5661-5665 (1982)
  MEDLINE   83039428
   PUBMED   6957884
REFERENCE   2  (bases 1 to 2477)
  AUTHORS   Campbell,R.D. and Porter,R.R.
  TITLE     Molecular cloning and characterization of the gene coding for human
            complement protein factor B
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 80 (14), 4464-4468 (1983)
  MEDLINE   83273641
   PUBMED   6308626
REFERENCE   3  (bases 1 to 2477)
  AUTHORS   Morley,B.J. and Campbell,R.D.
  TITLE     Internal homologies of the Ba fragment from human complement
            component Factor B, a class III MHC antigen
  JOURNAL   EMBO J. 3 (1), 153-157 (1984)
  MEDLINE   84158524
   PUBMED   6323161
REFERENCE   4  (bases 1 to 2477)
  AUTHORS   Mole,J.E., Anderson,J.K., Davison,E.A. and Woods,D.E.
  TITLE     Complete primary structure for the zymogen of human complement
            factor B
  JOURNAL   J. Biol. Chem. 259 (6), 3407-3412 (1984)
  MEDLINE   84161997
   PUBMED   6546754
REFERENCE   5  (bases 1 to 2477)
  AUTHORS   Campbell RD, Bentley DR and Morley BJ.
  TITLE     The factor B and C2 genes
  JOURNAL   Philos. Trans. R. Soc. Lond., B, Biol. Sci. 306 (1129), 367-378
            (1984)
  MEDLINE   85038857
   PUBMED   6149579
REFERENCE   6  (bases 1 to 2477)
  AUTHORS   Campbell,R.D.
  TITLE     The molecular genetics and polymorphism of C2 and factor B
  JOURNAL   Br. Med. Bull. 43 (1), 37-49 (1987)
  MEDLINE   88051634
   PUBMED   3315100
REFERENCE   7  (bases 1 to 2477)
  AUTHORS   Wu,L.C., Morley,B.J. and Campbell,R.D.
  TITLE     Cell-specific expression of the human complement protein factor B
            gene: evidence for the role of two distinct 5'-flanking elements
  JOURNAL   Cell 48 (2), 331-342 (1987)
  MEDLINE   87102880
   PUBMED   3643061
REFERENCE   8  (bases 1 to 2477)
  AUTHORS   Davrinche,C., Abbal,M. and Clerc,A.
  TITLE     Molecular characterization of human complement factor B subtypes
  JOURNAL   Immunogenetics 32 (5), 309-312 (1990)
  MEDLINE   91065702
   PUBMED   2249879
REFERENCE   9  (bases 1 to 2477)
  AUTHORS   Schwaeble,W., Luttig,B., Sokolowski,T., Estaller,C., Weiss,E.H.,
            Meyer zum Buschenfelde,K.H., Whaley,K. and Dippold,W.
  TITLE     Human complement factor B: functional properties of a recombinant
            zymogen of the alternative activation pathway convertase
  JOURNAL   Immunobiology 188 (3), 221-232 (1993)
  MEDLINE   94041399
   PUBMED   8225386
REFERENCE   10 (bases 1 to 2477)
  AUTHORS   Horiuchi,T., Kim,S., Matsumoto,M., Watanabe,I., Fujita,S. and
            Volanakis,J.E.
  TITLE     Human complement factor B: cDNA cloning, nucleotide sequencing,
            phenotypic conversion by site-directed mutagenesis and expression
  JOURNAL   Mol. Immunol. 30 (17), 1587-1592 (1993)
  MEDLINE   94067177
   PUBMED   8247029
REFERENCE   11 (bases 1 to 2477)
  AUTHORS   Mejia,J.E., Jahn,I., de la Salle,H. and Hauptmann,G.
  TITLE     Human factor B. Complete cDNA sequence of the BF*S allele
  JOURNAL   Hum. Immunol. 39 (1), 49-53 (1994)
  MEDLINE   94237735
   PUBMED   8181962
REFERENCE   12 (bases 1 to 2477)
  AUTHORS   Yu CY.
  TITLE     Molecular genetics of the human MHC complement gene cluster
  JOURNAL   Exp. Clin. Immunogenet. 15 (4), 213-230 (1998)
  MEDLINE   99171993
   PUBMED   10072631
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from L15702.1 and BC004143.1.
            On Jun 26, 2001 this sequence version replaced gi:4502396.
            Summary: This gene encodes complement factor B, a component of the
            alternative pathway of complement activation. Factor B circulates
            in the blood as a single chain polypeptide. Upon activation of the
            alternative pathway, it is cleaved by complement factor D yielding
            the noncatalytic chain Ba and the catalytic subunit Bb. The active
            subunit Bb is a serine protease which associates with C3b to form
            the alternative pathway C3 convertase. Bb is involved in the
            proliferation of preactivated B lymphocytes, while Ba inhibits
            their proliferation. This gene localizes to the major
            histocompatibility complex (MHC) class III region on chromosome 6.
            This cluster includes several genes involved in regulation of the
            immune reaction. The polyadenylation site of this gene is 421 bp
            from the 5' end of the gene for complement component 2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2477
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.3"
     gene            1..2477
                     /gene="BF"
                     /note="GBG; CFAB; PBF2"
                     /db_xref="LocusID:629"
                     /db_xref="MIM:138470"
     CDS             130..2424
                     /gene="BF"
                     /EC_number="3.4.21.47"
                     /note="B-factor, properdin; C3 proactivator; C3
                     proaccelerator; glycine-rich beta-glycoprotein; C3/C5
                     convertase"
                     /codon_start=1
                     /product="complement factor B preproprotein"
                     /protein_id="NP_001701.1"
                     /db_xref="GI:4502397"
                     /db_xref="LocusID:629"
                     /db_xref="MIM:138470"
                     /translation="MGSNLSPQLCLMPFILGLLSGGVTTTPWSLAQPQGSCSLEGVEI
                     KGGSFRLLQEGQALEYVCPSGFYPYPVQTRTCRSTGSWSTLKTQDQKTVRKAECRAIH
                     CPRPHDFENGEYWPRSPYYNVSDEISFHCYDGYTLRGSANRTCQVNGRWSGQTAICDN
                     GAGYCSNPGIPIGTRKVGSQYRLEDSVTYHCSRGLTLRGSQRRTCQEGGSWSGTEPSC
                     QDSFMYDTPQEVAEAFLSSLTETIEGVDAEDGHGPGEQQKRKIVLDPSGSMNIYLVLD
                     GSDSIGASNFTGAKKCLVNLIEKVASYGVKPRYGLVTYATYPKIWVKVSEADSSNADW
                     VTKQLNEINYEDHKLKSGTNTKKALQAVYSMMSWPDDVPPEGWNRTRHVIILMTDGLH
                     NMGGDPITVIDEIRDLLYIGKDRKNPREDYLDVYVFGVGPLVNQVNINALASKKDNEQ
                     HVFKVKDMENLEDVFYQMIDESQSLSLCGMVWEHRKGTDYHKQPWQAKISVIRPSKGH
                     ESCMGAVVSEYFVLTAAHCFTVDDKEHSIKVSVGGEKRDLEIEVVLFHPNYNINGKKE
                     AGIPEFYDYDVALIKLKNKLKYGQTIRPICLPCTEGTTRALRLPPTTTCQQQKEELLP
                     AQDIKALFVSEEEKKLTRKEVYIKNGDKKGSCERDAQYAPGYDKVKDISEVVTPRFLC
                     TGGVSPYADPNTCRGDSGGPLIVHKRSRFIQVGVISWGVVDVCKNQKRQKQVPAHARD
                     FHINLFQVLPWLKEKLQDEDLGFL"
     sig_peptide     130..204
                     /gene="BF"
     mat_peptide     205..906
                     /gene="BF"
                     /product="Ba"
     misc_feature    292..378
                     /gene="BF"
                     /note="CCP; Region: Domain abundant in complement control
                     proteins"
                     /db_xref="CDD:smart00032"
     misc_feature    436..603
                     /gene="BF"
                     /note="CCP; Region: Domain abundant in complement control
                     proteins"
                     /db_xref="CDD:smart00032"
     misc_feature    436..603
                     /gene="BF"
                     /note="sushi; Region: Sushi domain (SCR repeat)"
                     /db_xref="CDD:pfam00084"
     misc_feature    622..783
                     /gene="BF"
                     /note="CCP; Region: Domain abundant in complement control
                     proteins"
                     /db_xref="CDD:smart00032"
     misc_feature    631..783
                     /gene="BF"
                     /note="sushi; Region: Sushi domain (SCR repeat)"
                     /db_xref="CDD:pfam00084"
     mat_peptide     907..2421
                     /gene="BF"
                     /product="Bb"
     misc_feature    934..1539
                     /gene="BF"
                     /note="VWA; Region: von Willebrand factor (vWF) type A
                     domain"
                     /db_xref="CDD:smart00327"
     misc_feature    937..1533
                     /gene="BF"
                     /note="vwa; Region: von Willebrand factor type A domain"
                     /db_xref="CDD:pfam00092"
     misc_feature    1591..2382
                     /gene="BF"
                     /note="Tryp_SPc; Region: Trypsin-like serine protease"
                     /db_xref="CDD:smart00020"
     misc_feature    1600..2385
                     /gene="BF"
                     /note="trypsin; Region: Trypsin"
                     /db_xref="CDD:pfam00089"
     misc_feature    205..2421
                     /gene="BF"
                     /note="complement factor B proprotein"
     variation       223
                     /gene="BF"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:12614"
     variation       223
                     /gene="BF"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3188725"
     variation       224
                     /gene="BF"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1130150"
     variation       579
                     /gene="BF"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3188738"
     variation       1224
                     /gene="BF"
                     /note="WARNING: map location ambiguous"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1803306"
     variation       complement(1494)
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2072634"
     variation       1800
                     /gene="BF"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1803304"
     variation       2235
                     /gene="BF"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1803305"
     variation       2262
                     /gene="BF"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:11392"
     variation       2334
                     /gene="BF"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3210267"
     polyA_signal    2458..2463
                     /gene="BF"
     polyA_site      2477
                     /gene="BF"
                     /evidence=experimental
BASE COUNT      659 a    621 c    677 g    520 t
ORIGIN      
        1 aggggaaggg aatgtgacca ggtctaggtc tggagtttca gcttggacac tgagccaagc
       61 agacaagcaa agcaagccag gacacaccat cctgccccag gcccagcttc tctcctgcct
      121 tccaacgcca tggggagcaa tctcagcccc caactctgcc tgatgccctt tatcttgggc
      181 ctcttgtctg gaggtgtgac caccactcca tggtctttgg cccagcccca gggatcctgc
      241 tctctggagg gggtagagat caaaggcggc tccttccgac ttctccaaga gggccaggca
      301 ctggagtacg tgtgtccttc tggcttctac ccgtaccctg tgcagacacg tacctgcaga
      361 tctacggggt cctggagcac cctgaagact caagaccaaa agactgtcag gaaggcagag
      421 tgcagagcaa tccactgtcc aagaccacac gacttcgaga acggggaata ctggccccgg
      481 tctccctact acaatgtgag tgatgagatc tctttccact gctatgacgg ttacactctc
      541 cggggctctg ccaatcgcac ctgccaagtg aatggccggt ggagtgggca gacagcgatc
      601 tgtgacaacg gagcggggta ctgctccaac ccgggcatcc ccattggcac aaggaaggtg
      661 ggcagccagt accgccttga agacagcgtc acctaccact gcagccgggg gcttaccctg
      721 cgtggctccc agcggcgaac gtgtcaggaa ggtggctctt ggagcgggac ggagccttcc
      781 tgccaagact ccttcatgta cgacacccct caagaggtgg ccgaagcttt cctgtcttcc
      841 ctgacagaga ccatagaagg agtcgatgct gaggatgggc acggcccagg ggaacaacag
      901 aagcggaaga tcgtcctgga cccttcaggc tccatgaaca tctacctggt gctagatgga
      961 tcagacagca ttggggccag caacttcaca ggagccaaaa agtgtctagt caacttaatt
     1021 gagaaggtgg caagttatgg tgtgaagcca agatatggtc tagtgacata tgccacatac
     1081 cccaaaattt gggtcaaagt gtctgaagca gacagcagta atgcagactg ggtcacgaag
     1141 cagctcaatg aaatcaatta tgaagaccac aagttgaagt cagggactaa caccaagaag
     1201 gccctccagg cagtgtacag catgatgagc tggccagatg acgtccctcc tgaaggctgg
     1261 aaccgcaccc gccatgtcat catcctcatg actgatggat tgcacaacat gggcggggac
     1321 ccaattactg tcattgatga gatccgggac ttgctataca ttggcaagga tcgcaaaaac
     1381 ccaagggagg attatctgga tgtctatgtg tttggggtcg ggcctttggt gaaccaagtg
     1441 aacatcaatg ctttggcttc caagaaagac aatgagcaac atgtgttcaa agtcaaggat
     1501 atggaaaacc tggaagatgt tttctaccaa atgatcgatg aaagccagtc tctgagtctc
     1561 tgtggcatgg tttgggaaca caggaagggt accgattacc acaagcaacc atggcaggcc
     1621 aagatctcag tcattcgccc ttcaaaggga cacgagagct gtatgggggc tgtggtgtct
     1681 gagtactttg tgctgacagc agcacattgt ttcactgtgg atgacaagga acactcaatc
     1741 aaggtcagcg taggagggga gaagcgggac ctggagatag aagtagtcct atttcacccc
     1801 aactacaaca ttaatgggaa aaaagaagca ggaattcctg aattttatga ctatgacgtt
     1861 gccctgatca agctcaagaa taagctgaaa tatggccaga ctatcaggcc catttgtctc
     1921 ccctgcaccg agggaacaac tcgagctttg aggcttcctc caactaccac ttgccagcaa
     1981 caaaaggaag agctgctccc tgcacaggat atcaaagctc tgtttgtgtc tgaggaggag
     2041 aaaaagctga ctcggaagga ggtctacatc aagaatgggg ataagaaagg cagctgtgag
     2101 agagatgctc aatatgcccc aggctatgac aaagtcaagg acatctcaga ggtggtcacc
     2161 cctcggttcc tttgtactgg aggagtgagt ccctatgctg accccaatac ttgcagaggt
     2221 gattctggcg gccccttgat agttcacaag agaagtcgtt tcattcaagt tggtgtaatc
     2281 agctggggag tagtggatgt ctgcaaaaac cagaagcggc aaaagcaggt acctgctcac
     2341 gcccgagact ttcacatcaa cctctttcaa gtgctgccct ggctgaagga gaaactccaa
     2401 gatgaggatt tgggttttct ataaggggtt tcctgctgga caggggcgtg ggattgaatt
     2461 aaaacagctg cgacaac
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_005410. Homo sapiens sele...[gi:4885590] Links  


LOCUS       SEPP1                   2038 bp    mRNA    linear   PRI 16-NOV-2000
DEFINITION  Homo sapiens selenoprotein P, plasma, 1 (SEPP1), mRNA.
ACCESSION   NM_005410
VERSION     NM_005410.1  GI:4885590
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2038)
  AUTHORS   Hill KE, Lloyd RS and Burk RF.
  TITLE     Conserved nucleotide sequences in the open reading frame and 3'
            untranslated region of selenoprotein P mRNA
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 90 (2), 537-541 (1993)
  MEDLINE   93133823
   PUBMED   8421687
REFERENCE   2  (bases 1 to 2038)
  AUTHORS   Hill KE, Dasouki M, Phillips JA 3rd and Burk RF.
  TITLE     Human selenoprotein P gene maps to 5q31
  JOURNAL   Genomics 36 (3), 550-551 (1996)
  MEDLINE   97038702
   PUBMED   8884283
REFERENCE   3  (bases 1 to 2038)
  AUTHORS   Mostert,V., Lombeck,I. and Abel,J.
  TITLE     A novel method for the purification of selenoprotein P from human
            plasma
  JOURNAL   Arch. Biochem. Biophys. 357 (2), 326-330 (1998)
  MEDLINE   98413836
   PUBMED   9735174
REFERENCE   4  (bases 1 to 2038)
  AUTHORS   Mostert,V.
  TITLE     Selenoprotein P: properties, functions, and regulation
  JOURNAL   Arch. Biochem. Biophys. 376 (2), 433-438 (2000)
  MEDLINE   20239644
   PUBMED   10775431
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z11793.1.
            Summary: Selenoprotein P is an extracellular glycoprotein and is
            the only selenoprotein known to contain multiple selenocysteine
            residues. Two isoforms of this protein are Sep51 and Sep61. Sep51
            lacks part of the C-terminal sequence. Selenoprotein P binds
            heparin and associates with endothelial cells. They are implicated
            as an oxidant defense in the extracellular space and in the
            transport of selenium.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2038
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31"
     gene            1..2038
                     /gene="SEPP1"
                     /note="SeP"
                     /db_xref="LocusID:6414"
                     /db_xref="MIM:601484"
     CDS             37..1182
                     /gene="SEPP1"
                     /note="tga codes for  selenocysteine; encodes 61 kDa
                     protein"
                     /codon_start=1
                     /transl_except=(pos:211..213,aa:Sec)
                     /transl_except=(pos:934..936,aa:Sec)
                     /transl_except=(pos:988..990,aa:Sec)
                     /transl_except=(pos:1024..1026,aa:Sec)
                     /transl_except=(pos:1069..1071,aa:Sec)
                     /transl_except=(pos:1090..1092,aa:Sec)
                     /transl_except=(pos:1135..1137,aa:Sec)
                     /transl_except=(pos:1141..1143,aa:Sec)
                     /transl_except=(pos:1162..1164,aa:Sec)
                     /transl_except=(pos:1168..1170,aa:Sec)
                     /product="selenoprotein P precursor"
                     /protein_id="NP_005401.2"
                     /db_xref="GI:11038621"
                     /db_xref="LocusID:6414"
                     /db_xref="MIM:601484"
                     /translation="MWRSLGLALALCLLPSGGTESQDQSSLCKQPPAWSIRDQDPMLN
                     SNGSVTVVALLQASUYLCIIEASKLEDLRVKLKKEGYSNISYIVVNHQGISSRLKYTH
                     LKNKVSEHIPVYQQEENQTDVWTLLNGSKDDFLIYDRCGRLVYHLGLPFSFLTFPYVE
                     EAIKIAYCEKKCGNCSLTTLKDEDFCKRVSLATVDKTVETPSPHYHHEHHHNHGHQHL
                     GSSELSENQQPGAPNAPTHPAPPGLHHHHKHKGQHRQGHPENRDMPASEDLQDLQKKL
                     CRKRCINQLLCKLPTDSELAPRSUCCHCRHLIFEKTGSAITUQCKENLPSLCSUQGLR
                     AEENITESCQURLPPAAUQISQQLIPTEASASURUKNQAKKUEUPSN"
     sig_peptide     37..93
                     /gene="SEPP1"
     mat_peptide     94..1179
                     /gene="SEPP1"
                     /product="selenoprotein P"
     variation       1196
                     /gene="SEPP1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:7579"
     polyA_site      2016
                     /gene="SEPP1"
BASE COUNT      673 a    399 c    360 g    606 t
ORIGIN      
        1 gcaggcccgt tggaagtggt tgtgacaacc ccagcaatgt ggagaagcct ggggcttgcc
       61 ctggctctct gtctcctccc atcgggagga acagagagcc aggaccaaag ctccttatgt
      121 aagcaacccc cagcctggag cataagagat caagatccaa tgctaaactc caatggttca
      181 gtgactgtgg ttgctcttct tcaagccagc tgatacctgt gcatcatcga ggcatctaaa
      241 ttagaagacc tgcgagtaaa actgaagaaa gaaggatatt ctaatatttc ttatattgtt
      301 gttaatcatc aaggaatctc ttctcgatta aaatacacac atcttaagaa taaggtttca
      361 gagcatattc ctgtttatca acaagaagaa aaccaaacag atgtctggac tcttttaaat
      421 ggaagcaaag atgacttcct catatatgat agatgtggcc gtcttgtata tcatcttggt
      481 ttgccttttt ccttcctaac tttcccatat gtagaagaag ccattaagat tgcttactgt
      541 gaaaagaaat gtggaaactg ctctctcacg actctcaaag atgaagactt ttgtaaacgt
      601 gtatctttgg ctactgtgga taaaacagtt gaaactccat cgcctcatta ccatcatgag
      661 catcatcaca atcatggaca tcagcacctt ggcagcagtg agctttcaga gaatcagcaa
      721 ccaggagcac caaatgctcc tactcatcct gctcctccag gccttcatca ccaccataag
      781 cacaagggtc agcataggca gggtcaccca gagaaccgag atatgccagc aagtgaagat
      841 ttacaagatt tacaaaagaa gctctgtcga aagagatgta taaatcaatt actctgtaaa
      901 ttgcccacag attcagagtt ggctcctagg agctgatgct gccattgtcg acatctgata
      961 tttgaaaaaa cagggtctgc aatcacctga cagtgtaaag aaaacctccc atctttatgt
     1021 agctgacagg gacttcgggc agaggagaac ataactgaat cttgtcagtg acgtttgcct
     1081 ccagctgcct gacaaataag tcagcagctt atacccacag aagccagtgc cagttgacgc
     1141 tgaaagaatc aggcaaaaaa gtgagaatga ccttcaaact aaatatttaa aataggacat
     1201 actccccaat ttagtctaga cacaatttca tttccagcat ttttataaac taccaaatta
     1261 gtgaaccaaa aatagaaatt agatttgtgc aaacatggag aaatctactg aattggcttc
     1321 cagattttaa attttatgtc atagaaatat tgactcaaac catatttttt atgatggagc
     1381 aactgaaagg tgattgcagc ttttggttaa tatgtctttt tttttctttt tccagtgttc
     1441 tatttgcttt aatgagaata gaaacgtaaa ctatgaccta ggggttttct gttggataat
     1501 tagcagttta gaatggagga agaacaacaa agacatgctt tccatttttt cctttactta
     1561 tctctcaaaa caatattact ttgtcttttc aatcttctac ttttaactaa taaaataagt
     1621 ggattttgta ttttaagatc cagaaatact taacacgtga atattttgct aaaaaagcat
     1681 atataactat tttaaatatc catttatctt ttgtatatct aagactcatc ctgattttta
     1741 ctatcacaca tgaataaagg cctttgtatc tttctttctc taatgttgta tcatactctt
     1801 ctaaaacttg agtggctgtc ttaaaagata taaggggaaa gataatattg tctgtctcta
     1861 tattgcttag taagtatttc catagtcaat gatggtttaa taggtaaacc aaaccctata
     1921 aacctgacct cctttatggt taatactatt aagcaagaat gcagtacaga attggataca
     1981 gtacggattt gtccaaataa attcaataaa aaccttaaaa aaaaaaaaaa aaaaaaaa
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_003873. Homo sapiens neur...[gi:4505456] Links  


LOCUS       NRP1                    2772 bp    mRNA    linear   PRI 01-NOV-2000
DEFINITION  Homo sapiens neuropilin 1 (NRP1), mRNA.
ACCESSION   NM_003873
VERSION     NM_003873.1  GI:4505456
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2772)
  AUTHORS   He,Z. and Tessier-Lavigne,M.
  TITLE     Neuropilin is a receptor for the axonal chemorepellent Semaphorin
            III
  JOURNAL   Cell 90 (4), 739-751 (1997)
  MEDLINE   97433084
   PUBMED   9288753
REFERENCE   2  (bases 1 to 2772)
  AUTHORS   Chen,H., Chedotal,A., He,Z., Goodman,C.S. and Tessier-Lavigne,M.
  TITLE     Neuropilin-2, a novel member of the neuropilin family, is a high
            affinity receptor for the semaphorins Sema E and Sema IV but not
            Sema III
  JOURNAL   Neuron 19 (3), 547-559 (1997)
  MEDLINE   97470888
   PUBMED   9331348
REFERENCE   3  (bases 1 to 2772)
  AUTHORS   Soker,S., Takashima,S., Miao,H.Q., Neufeld,G. and Klagsbrun,M.
  TITLE     Neuropilin-1 is expressed by endothelial and tumor cells as an
            isoform-specific receptor for vascular endothelial growth factor
  JOURNAL   Cell 92 (6), 735-745 (1998)
  MEDLINE   98188099
   PUBMED   9529250
REFERENCE   4  (bases 1 to 2772)
  AUTHORS   Rossignol,M., Beggs,A.H., Pierce,E.A. and Klagsbrun,M.
  TITLE     Human neuropilin-1 and neuropilin-2 map to 10p12 and 2q34,
            respectively
  JOURNAL   Genomics 57 (3), 459-460 (1999)
  MEDLINE   99263513
   PUBMED   10329017
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF018956.1.
FEATURES             Location/Qualifiers
     source          1..2772
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p12"
     gene            1..2772
                     /gene="NRP1"
                     /note="NRP; VEGF165R"
                     /db_xref="LocusID:8829"
                     /db_xref="MIM:602069"
     CDS             1..2772
                     /gene="NRP1"
                     /codon_start=1
                     /product="neuropilin 1"
                     /protein_id="NP_003864.1"
                     /db_xref="GI:4505457"
                     /db_xref="LocusID:8829"
                     /db_xref="MIM:602069"
                     /translation="MERGLPLLCAVLALVLAPAGAFRNDECGDTIKIESPGYLTSPGY
                     PHSYHPSEKCEWLIQAPDPYQRIMINFNPHFDLEDRDCKYDYVEVFDGENENGHFRGK
                     FCGKIAPPPVVSSGPFLFIKFVSDYETHGAGFSIRYEIFKRGPECSQNYTTPSGVIKS
                     PGFPEKYPNSLECTYIVFAPKMSEIILEFESFDLEPDSNPPGGMFCRYDRLEIWDGFP
                     DVGPHIGRYCGQKTPGRIRSSSGILSMVFYTDSAIAKEGFSANYSVLQSSVSEDFKCM
                     EALGMESGEIHSDQITASSQYSTNWSAERSRLNYPENGWTPGEDSYREWIQVDLGLLR
                     FVTAVGTQGAISKETKKKYYVKTYKIDVSSNGEDWITIKEGNKPVLFQGNTNPTDVVV
                     AVFPKPLITRFVRIKPATWETGISMRFEVYGCKITDYPCSGMLGMVSGLISDSQITSS
                     NQGDRNWMPENIRLVTSRSGWALPPAPHSYINEWLQIDLGEEKIVRGIIIQGGKHREN
                     KVFMRKFKIGYSNNGSDWKMIMDDSKRKAKSFEGNNNYDTPELRTFPALSTRFIRIYP
                     ERATHGGLGLRMELLGCEVEAPTAGPTTPNGNLVDECDDDQANCHSGTGDDFQLTGGT
                     TVLATEKPTVIDSTIQSEFPTYGFNCEFGWGSHKTFCHWEHDNHVQLKWSVLTSKTGP
                     IQDHTGDGNFIYSQADENQKGKVARLVSPVVYSQNSAHCMTFWYHMSGSHVGTLRVKL
                     RYQKPEEYDQLVWMAIGHQGDHWKEGRVLLHKSLKLYQVIFEGEIGKGNLGGIAVDDI
                     SINNHISQEDCAKPADLDKKNPEIKIDETGSTPGYEGEGEGDKNISRKPGNVLKTLEP
                     ILITIIAMSALGVLLGAVCGVVLYCACWHNGMSERNLSALENYNFELVDGVKLKKDKL
                     NTQSTYSEA"
     misc_feature    79..423
                     /gene="NRP1"
                     /note="CUB; Region: Domain first found in C1r, C1s, uEGF,
                     and bone morphogenetic protein."
                     /db_xref="CDD:CUB"
     misc_feature    79..414
                     /gene="NRP1"
                     /note="CUB; Region: CUB domain"
                     /db_xref="CDD:pfam00431"
     misc_feature    439..789
                     /gene="NRP1"
                     /note="CUB; Region: Domain first found in C1r, C1s, uEGF,
                     and bone morphogenetic protein."
                     /db_xref="CDD:CUB"
     misc_feature    439..786
                     /gene="NRP1"
                     /note="CUB; Region: CUB domain"
                     /db_xref="CDD:pfam00431"
     misc_feature    832..1263
                     /gene="NRP1"
                     /note="F5_F8_type_C; Region: F5/8 type C domain"
                     /db_xref="CDD:pfam00754"
     misc_feature    1300..1740
                     /gene="NRP1"
                     /note="F5_F8_type_C; Region: F5/8 type C domain"
                     /db_xref="CDD:pfam00754"
     misc_feature    1933..2433
                     /gene="NRP1"
                     /note="MAM; Region: Domain in meprin, A5, receptor protein
                     tyrosine phosphatase mu (and others)"
                     /db_xref="CDD:MAM"
     misc_feature    1948..2433
                     /gene="NRP1"
                     /note="MAM; Region: MAM domain"
                     /db_xref="CDD:pfam00629"
     variation       537
                     /gene="NRP1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2070296"
     variation       1161
                     /gene="NRP1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2229934"
     variation       1266
                     /gene="NRP1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2229935"
     variation       1683
                     /gene="NRP1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2228637"
     variation       2197
                     /gene="NRP1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2228638"
     variation       2490
                     /gene="NRP1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2229936"
     variation       2565
                     /gene="NRP1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1048803"
BASE COUNT      772 a    664 c    702 g    634 t
ORIGIN      
        1 atggagaggg ggctgccgct cctctgcgcc gtgctcgccc tcgtcctcgc cccggccggc
       61 gcttttcgca acgatgaatg tggcgatact ataaaaattg aaagccccgg gtaccttaca
      121 tctcctggtt atcctcattc ttatcaccca agtgaaaaat gcgaatggct gattcaggct
      181 ccggacccat accagagaat tatgatcaac ttcaaccctc acttcgattt ggaggacaga
      241 gactgcaagt atgactacgt ggaagtcttc gatggagaaa atgaaaatgg acattttagg
      301 ggaaagttct gtggaaagat agcccctcct cctgttgtgt cttcagggcc atttcttttt
      361 atcaaatttg tctctgacta cgaaacacat ggtgcaggat tttccatacg ttatgaaatt
      421 ttcaagagag gtcctgaatg ttcccagaac tacacaacac ctagtggagt gataaagtcc
      481 cccggattcc ctgaaaaata tcccaacagc cttgaatgca cttatattgt ctttgcgcca
      541 aagatgtcag agattatcct ggaatttgaa agctttgacc tggagcctga ctcaaatcct
      601 ccagggggga tgttctgtcg ctacgaccgg ctagaaatct gggatggatt ccctgatgtt
      661 ggccctcaca ttgggcgtta ctgtggacag aaaacaccag gtcgaatccg atcctcatcg
      721 ggcattctct ccatggtttt ttacaccgac agcgcgatag caaaagaagg tttctcagca
      781 aactacagtg tcttgcagag cagtgtctca gaagatttca aatgtatgga agctctgggc
      841 atggaatcag gagaaattca ttctgaccag atcacagctt cttcccagta tagcaccaac
      901 tggtctgcag agcgctcccg cctgaactac cctgagaatg ggtggactcc cggagaggat
      961 tcctaccgag agtggataca ggtagacttg ggccttctgc gctttgtcac ggctgtcggg
     1021 acacagggcg ccatttcaaa agaaaccaag aagaaatatt atgtcaagac ttacaagatc
     1081 gacgttagct ccaacgggga agactggatc accataaaag aaggaaacaa acctgttctc
     1141 tttcagggaa acaccaaccc cacagatgtt gtggttgcag tattccccaa accactgata
     1201 actcgatttg tccgaatcaa gcctgcaact tgggaaactg gcatatctat gagatttgaa
     1261 gtatacggtt gcaagataac agattatcct tgctctggaa tgttgggtat ggtgtctgga
     1321 cttatttctg actcccagat cacatcatcc aaccaaggag acagaaactg gatgcctgaa
     1381 aacatccgcc tggtaaccag tcgctctggc tgggcacttc cacccgcacc tcattcctac
     1441 atcaatgagt ggctccaaat agacctgggg gaggagaaga tcgtgagggg catcatcatt
     1501 cagggtggga agcaccgaga gaacaaggtg ttcatgagga agttcaagat cgggtacagc
     1561 aacaacggct cggactggaa gatgatcatg gatgacagca aacgcaaggc gaagtctttt
     1621 gagggcaaca acaactatga tacacctgag ctgcggactt ttccagctct ctccacgcga
     1681 ttcatcagga tctaccccga gagagccact catggcggac tggggctcag aatggagctg
     1741 ctgggctgtg aagtggaagc ccctacagct ggaccgacca ctcccaacgg gaacttggtg
     1801 gatgaatgtg atgacgacca ggccaactgc cacagtggaa caggtgatga cttccagctc
     1861 acaggtggca ccactgtgct ggccacagaa aagcccacgg tcatagacag caccatacaa
     1921 tcagagtttc caacatatgg ttttaactgt gaatttggct ggggctctca caagaccttc
     1981 tgccactggg aacatgacaa tcacgtgcag ctcaagtgga gtgtgttgac cagcaagacg
     2041 ggacccattc aggatcacac aggagatggc aacttcatct attcccaagc tgacgaaaat
     2101 cagaagggca aagtggctcg cctggtgagc cctgtggttt attcccagaa ctctgcccac
     2161 tgcatgacct tctggtatca catgtctggg tcccacgtcg gcacactcag ggtcaaactg
     2221 cgctaccaga agccagagga gtacgatcag ctggtctgga tggccattgg acaccaaggt
     2281 gaccactgga aggaagggcg tgtcttgctc cacaagtctc tgaaacttta tcaggtgatt
     2341 ttcgagggcg aaatcggaaa aggaaacctt ggtgggattg ctgtggatga cattagtatt
     2401 aataaccaca tttcacaaga agattgtgca aaaccagcag acctggataa aaagaaccca
     2461 gaaattaaaa ttgatgaaac agggagcacg ccaggatacg aaggtgaagg agaaggtgac
     2521 aagaacatct ccaggaagcc aggcaatgtg ttgaagacct tagaacccat cctcatcacc
     2581 atcatagcca tgagcgccct gggggtcctc ctgggggctg tctgtggggt cgtgctgtac
     2641 tgtgcctgtt ggcataatgg gatgtcagaa agaaacttgt ctgccctgga gaactataac
     2701 tttgaacttg tggatggtgt gaagttgaaa aaagacaaac tgaatacaca gagtacttat
     2761 tcggaggcat ga
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: AF018956. Homo sapiens neur...[gi:2407640] Links  


LOCUS       AF018956                2772 bp    mRNA    linear   PRI 18-SEP-1997
DEFINITION  Homo sapiens neuropilin mRNA, complete cds.
ACCESSION   AF018956
VERSION     AF018956.1  GI:2407640
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2772)
  AUTHORS   He,Z. and Tessier-Lavigne,M.
  TITLE     Neuropilin is a receptor for the axonal chemorepellent Semaphorin
            III
  JOURNAL   Cell 90 (4), 739-751 (1997)
  MEDLINE   97433084
   PUBMED   9288753
REFERENCE   2  (bases 1 to 2772)
  AUTHORS   He,Z. and Tessier-Lavigne,M.
  TITLE     Direct Submission
  JOURNAL   Submitted (11-AUG-1997) Howard Hughes Medical Institute, University
            of California, San Francisco, 513 Parnassus Avenue, HSE-201, San
            Francisco, CA 94143, USA
FEATURES             Location/Qualifiers
     source          1..2772
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
     CDS             1..2772
                     /codon_start=1
                     /product="neuropilin"
                     /protein_id="AAC51759.1"
                     /db_xref="GI:2407641"
                     /translation="MERGLPLLCAVLALVLAPAGAFRNDECGDTIKIESPGYLTSPGY
                     PHSYHPSEKCEWLIQAPDPYQRIMINFNPHFDLEDRDCKYDYVEVFDGENENGHFRGK
                     FCGKIAPPPVVSSGPFLFIKFVSDYETHGAGFSIRYEIFKRGPECSQNYTTPSGVIKS
                     PGFPEKYPNSLECTYIVFAPKMSEIILEFESFDLEPDSNPPGGMFCRYDRLEIWDGFP
                     DVGPHIGRYCGQKTPGRIRSSSGILSMVFYTDSAIAKEGFSANYSVLQSSVSEDFKCM
                     EALGMESGEIHSDQITASSQYSTNWSAERSRLNYPENGWTPGEDSYREWIQVDLGLLR
                     FVTAVGTQGAISKETKKKYYVKTYKIDVSSNGEDWITIKEGNKPVLFQGNTNPTDVVV
                     AVFPKPLITRFVRIKPATWETGISMRFEVYGCKITDYPCSGMLGMVSGLISDSQITSS
                     NQGDRNWMPENIRLVTSRSGWALPPAPHSYINEWLQIDLGEEKIVRGIIIQGGKHREN
                     KVFMRKFKIGYSNNGSDWKMIMDDSKRKAKSFEGNNNYDTPELRTFPALSTRFIRIYP
                     ERATHGGLGLRMELLGCEVEAPTAGPTTPNGNLVDECDDDQANCHSGTGDDFQLTGGT
                     TVLATEKPTVIDSTIQSEFPTYGFNCEFGWGSHKTFCHWEHDNHVQLKWSVLTSKTGP
                     IQDHTGDGNFIYSQADENQKGKVARLVSPVVYSQNSAHCMTFWYHMSGSHVGTLRVKL
                     RYQKPEEYDQLVWMAIGHQGDHWKEGRVLLHKSLKLYQVIFEGEIGKGNLGGIAVDDI
                     SINNHISQEDCAKPADLDKKNPEIKIDETGSTPGYEGEGEGDKNISRKPGNVLKTLEP
                     ILITIIAMSALGVLLGAVCGVVLYCACWHNGMSERNLSALENYNFELVDGVKLKKDKL
                     NTQSTYSEA"
BASE COUNT      772 a    664 c    702 g    634 t
ORIGIN      
        1 atggagaggg ggctgccgct cctctgcgcc gtgctcgccc tcgtcctcgc cccggccggc
       61 gcttttcgca acgatgaatg tggcgatact ataaaaattg aaagccccgg gtaccttaca
      121 tctcctggtt atcctcattc ttatcaccca agtgaaaaat gcgaatggct gattcaggct
      181 ccggacccat accagagaat tatgatcaac ttcaaccctc acttcgattt ggaggacaga
      241 gactgcaagt atgactacgt ggaagtcttc gatggagaaa atgaaaatgg acattttagg
      301 ggaaagttct gtggaaagat agcccctcct cctgttgtgt cttcagggcc atttcttttt
      361 atcaaatttg tctctgacta cgaaacacat ggtgcaggat tttccatacg ttatgaaatt
      421 ttcaagagag gtcctgaatg ttcccagaac tacacaacac ctagtggagt gataaagtcc
      481 cccggattcc ctgaaaaata tcccaacagc cttgaatgca cttatattgt ctttgcgcca
      541 aagatgtcag agattatcct ggaatttgaa agctttgacc tggagcctga ctcaaatcct
      601 ccagggggga tgttctgtcg ctacgaccgg ctagaaatct gggatggatt ccctgatgtt
      661 ggccctcaca ttgggcgtta ctgtggacag aaaacaccag gtcgaatccg atcctcatcg
      721 ggcattctct ccatggtttt ttacaccgac agcgcgatag caaaagaagg tttctcagca
      781 aactacagtg tcttgcagag cagtgtctca gaagatttca aatgtatgga agctctgggc
      841 atggaatcag gagaaattca ttctgaccag atcacagctt cttcccagta tagcaccaac
      901 tggtctgcag agcgctcccg cctgaactac cctgagaatg ggtggactcc cggagaggat
      961 tcctaccgag agtggataca ggtagacttg ggccttctgc gctttgtcac ggctgtcggg
     1021 acacagggcg ccatttcaaa agaaaccaag aagaaatatt atgtcaagac ttacaagatc
     1081 gacgttagct ccaacgggga agactggatc accataaaag aaggaaacaa acctgttctc
     1141 tttcagggaa acaccaaccc cacagatgtt gtggttgcag tattccccaa accactgata
     1201 actcgatttg tccgaatcaa gcctgcaact tgggaaactg gcatatctat gagatttgaa
     1261 gtatacggtt gcaagataac agattatcct tgctctggaa tgttgggtat ggtgtctgga
     1321 cttatttctg actcccagat cacatcatcc aaccaaggag acagaaactg gatgcctgaa
     1381 aacatccgcc tggtaaccag tcgctctggc tgggcacttc cacccgcacc tcattcctac
     1441 atcaatgagt ggctccaaat agacctgggg gaggagaaga tcgtgagggg catcatcatt
     1501 cagggtggga agcaccgaga gaacaaggtg ttcatgagga agttcaagat cgggtacagc
     1561 aacaacggct cggactggaa gatgatcatg gatgacagca aacgcaaggc gaagtctttt
     1621 gagggcaaca acaactatga tacacctgag ctgcggactt ttccagctct ctccacgcga
     1681 ttcatcagga tctaccccga gagagccact catggcggac tggggctcag aatggagctg
     1741 ctgggctgtg aagtggaagc ccctacagct ggaccgacca ctcccaacgg gaacttggtg
     1801 gatgaatgtg atgacgacca ggccaactgc cacagtggaa caggtgatga cttccagctc
     1861 acaggtggca ccactgtgct ggccacagaa aagcccacgg tcatagacag caccatacaa
     1921 tcagagtttc caacatatgg ttttaactgt gaatttggct ggggctctca caagaccttc
     1981 tgccactggg aacatgacaa tcacgtgcag ctcaagtgga gtgtgttgac cagcaagacg
     2041 ggacccattc aggatcacac aggagatggc aacttcatct attcccaagc tgacgaaaat
     2101 cagaagggca aagtggctcg cctggtgagc cctgtggttt attcccagaa ctctgcccac
     2161 tgcatgacct tctggtatca catgtctggg tcccacgtcg gcacactcag ggtcaaactg
     2221 cgctaccaga agccagagga gtacgatcag ctggtctgga tggccattgg acaccaaggt
     2281 gaccactgga aggaagggcg tgtcttgctc cacaagtctc tgaaacttta tcaggtgatt
     2341 ttcgagggcg aaatcggaaa aggaaacctt ggtgggattg ctgtggatga cattagtatt
     2401 aataaccaca tttcacaaga agattgtgca aaaccagcag acctggataa aaagaaccca
     2461 gaaattaaaa ttgatgaaac agggagcacg ccaggatacg aaggtgaagg agaaggtgac
     2521 aagaacatct ccaggaagcc aggcaatgtg ttgaagacct tagaacccat cctcatcacc
     2581 atcatagcca tgagcgccct gggggtcctc ctgggggctg tctgtggggt cgtgctgtac
     2641 tgtgcctgtt ggcataatgg gatgtcagaa agaaacttgt ctgccctgga gaactataac
     2701 tttgaacttg tggatggtgt gaagttgaaa aaagacaaac tgaatacaca gagtacttat
     2761 tcggaggcat ga
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

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&&&&&&&


    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: X52851. Human cyclophilin...[gi:30167] Links  


LOCUS       HSCPH70                 6711 bp    DNA     linear   PRI 26-APR-1993
DEFINITION  Human cyclophilin gene for cyclophilin (EC 5.2.1.8).
ACCESSION   X52851
VERSION     X52851.1  GI:30167
KEYWORDS    Alu repeat; cyclophilin; cyclosporin A-binding protein;
            peptidylprolyl isomerase.
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1
  AUTHORS   Haendler,B. and Hofer,E.
  TITLE     Characterization of the human cyclophilin gene and of related
            processed pseudogenes
  JOURNAL   Eur. J. Biochem. 190 (3), 477-482 (1990)
  MEDLINE   90322991
REFERENCE   2  (bases 1 to 6711)
  AUTHORS   Hofer,E.
  TITLE     Direct Submission
  JOURNAL   Submitted (23-APR-1990) Hofer E., Sandoz Ltd, Preclinical Research,
            386/625, 4002 Basle, Switzerland
COMMENT     See also  for cDNA sequence and  for related
            processed pseudogenic sequences.
FEATURES             Location/Qualifiers
     source          1..6711
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /clone="CPH-70"
                     /cell_type="leucocyte"
                     /clone_lib="Lambda EMBL3"
     misc_feature    71..360
                     /note="Alu repeat"
     misc_feature    361..562
                     /note="Alu repeat"
     protein_bind    781..790
                     /note="SP1 binding domain"
                     /bound_moiety="Sp1"
     protein_bind    1371..1380
                     /note="SP1 binding domain"
                     /bound_moiety="Sp1"
     TATA_signal     1585..1591
     mRNA            join(1616..1728,4173..4203,4318..4406,4628..4800,
                     6215..6561)
     exon            1616..1728
                     /number=1
     CDS             join(1660..1728,4173..4203,4318..4406,4628..4800,
                     6215..6350)
                     /EC_number="5.2.1.8"
                     /codon_start=1
                     /product="peptidylprolyl isomerase"
                     /protein_id="CAA37039.1"
                     /db_xref="GI:30168"
                     /db_xref="SWISS-PROT:P05092"
                     /translation="MVNPTVFFDIAVDGEPLGRVSFELFADKVPKTAENFRALSTGEK
                     GFGYKGSCFHRIIPGFMCQGGDFTRHNGTGGKSIYGEKFEDENFILKHTGPGILSMAN
                     AGPNTNGSQFFICTAKTEWLDGKHVVFGKVKEGMNIVEAMERFGSRNGKTSKKITIAD
                     CGQLE"
     intron          1729..4172
                     /number=1
     misc_feature    2054..2063
                     /note="general enhancer core"
     protein_bind    2522..2537
                     /note="NP1 binding domain"
                     /bound_moiety="NP1"
     misc_feature    3207..3445
                     /note="Alu repeat"
     protein_bind    4094..4100
                     /note="AP1 binding domain"
                     /bound_moiety="AP1"
     exon            4173..4203
                     /number=2
     intron          4204..4317
                     /number=2
     exon            4318..4406
                     /number=3
     intron          4407..4627
                     /number=3
     exon            4628..4800
                     /number=4
     intron          4801..6214
                     /number=4
     misc_feature    5026..5314
                     /note="Alu repeat"
     misc_feature    5340..5626
                     /note="Alu repeat"
     misc_feature    5755..6043
                     /note="Alu repeat"
     exon            6215..6561
                     /number=5
     polyA_signal    6538..6543
BASE COUNT     1552 a   1625 c   1717 g   1817 t
ORIGIN      
        1 gaattccctt gtaaggtttt cttaacaaaa caccagtcac ataagtgcat tttattttat
       61 atttttgttt atttatttga gacggagtct cttgtctctc aggctggagt gcagtggcgc
      121 catctctgct cgctgcaacc tccacctcct gggttccagc gattctcctg cctcagcctc
      181 ccgagggggt agctgggact acaggtgcgc accaccatgc ccagctaatt ttgtattttt
      241 cgtagagatg gggtttcacc atgttgtcca ggctggtctt gaactcctga cctcaggtga
      301 tcctcccgcc tcggcctccc aaagtgctgg aattacaggc gtgatccacc gcacccggcc
      361 tattttttga gagagggtca cactctgtcg tcccggctgg aatgcagtga tgcgatcacc
      421 gcccactaca gcctcgacct ccgggctcaa gcaatcctcc ccgcccagcc tcctgagtag
      481 cgagcgcctc gacgcccagc taatttttat ttttatttat ttttttgtag agacggcgtc
      541 tctctaagat gcccaggctg gtggccggtg tcgaactcct aagatgaagc gatcctcccc
      601 ggccttggcc tccgcgcctc ctaaagcgcc aggtatgagc caccgcgcct ggcctacaag
      661 tgcattttaa ttaaagtatt attaatgtct ttgcctgaag aaattcgctt ttaaattgtg
      721 acttatcttt cacccaaaaa tcaaagcaca attcagcccc gaggcggggg cggtaggagc
      781 tgggcggggc gggggcaggg aaagaccagg agcagagatt caaaaagagt aagagggcaa
      841 aatgtgcata atgcatcttc acaggtaaga gcctggccag gctcctgttt taatggcttc
      901 ctcctgaaga agattcaagc agagtgtaag atattttcgg aaagtagagc attttgaaag
      961 catttcataa tctctcaaaa ccggagactg ctcctgtccc acctcgttag agaaaacagc
     1021 gatgctcaaa ggcaacctcc ttcctgacat tgcctggtag gacgcgacgt ggtgtttgcc
     1081 cgcgcggaat gcggacgcaa ggctgctcct aggtctcggg gacgcgccat ccccatttcc
     1141 gctcgcggag gcgtagggtc cgggcgcggg accccagtcg accttgactg gcggcgcgac
     1201 cttgaggcct gcgttcgcct cagttgcccc ctctgtgcaa tggggagacg cgcctcatcg
     1261 cttgacaacg gccgaagagc cgccgcgctt ccgtctcccg cgtgcgcgcg ccatgctgcc
     1321 cacccccgtt ccgcactgac cctcccccgt gccccgcgtc ccgtactgcc gccccgcccc
     1381 gagtcccatg ccgcagccac cgcgacggag cccgcaggcg ggaacctgcc tccgcgcgtt
     1441 agcgcgcacg cgcgcctcat gtgtcgtccc catcagcgcc ggcttccgtc tataggccag
     1501 atgcactgtc actctggcga agtcgcagac ccgattggcc gggacggagg cgcgagaccg
     1561 ggttgcgggc ggggccgaac gtggtataaa acgggcggga ggccaggctc gtgccgtttt
     1621 gcagacgcca ccgccgagga aaaccgtgta ctattagcca tggtcaaccc caccgtgttc
     1681 ttcgacattg ccgtcgacgg cgagcccttg ggccgcgtct cctttgaggt cgggcgggcg
     1741 gcggcgtgcg ggaatggggc ccagaaagtg ggccggggtc ggggtgggtg gtagcgcccc
     1801 aaaggcccgg gcgcggggcg accctgcttg aggggcgagc gcgggcgggc tgcggcgcca
     1861 tttcctgacg aggggccatt ttgggaggtc cgcgagtcgc gggaggaggc cgggacgcgg
     1921 cggacaaagg caggcggggc ggctgcgagg ccgttggggg agggggcccg cgtccgcccg
     1981 cccgcctcat gtggccgcgc cctgtcctgt ccgacgcacg tgctcggcgg ccgcgctcag
     2041 gtccgcgcct tgagagtcgt tgtccgccct agcttggcct gggcgccgca gaccggagcc
     2101 agaagcacgc tcgcgggggc ttgcgaccgc cttcctggga agctgtcccc tggcaggcat
     2161 gggtgcttta catcctgagc tgggaagctg tttgcttgag ggtttttctc aaggatcgag
     2221 gcgcggtgtg agcccgtcca tgctcggtcc tgtagatccc gggaggccat gttataaaag
     2281 gagacttgct gggatgtgac gggttgccac ttgaaatatc ttccatttgg ataaagtagg
     2341 aatatttata catgtgcccc aaacgtccct ccgtgtcccc cacccccaag cggaaatgtg
     2401 aaaatgggcc ttgcctttgc tggtgcccaa ggaccgcctt ccactgcagt gacggcgctg
     2461 gcgggggagg cgctcttgag cccctcccga ttgtccctct gcctagcaag caagttgcga
     2521 ctggccacaa ggcaggcctc ttccgaccaa ggtggattac cagtgattac ctaattagtt
     2581 ttgagagcgt taaatgagtt cttaaagatc agttgtaatt atagcatagt atctaaactt
     2641 ggcgcgtgtc ttcaaagtta aatattgagt acgattccgt tccagttaac atggatagac
     2701 cttagggagt agcgaaatag gatgttagtg gttttattcc tttaaatcac atctcaaaag
     2761 gccaccaatg gctagtttgg atcttattcc gaaaatagat tgatcctcat gcagtcttcg
     2821 tgaggacaga gcgatttcct tgttgcctac cctgtccata gtgcctggca cataggcact
     2881 gaaacactgc atgttaatcc acaccccacc ccacctatga gtgtagtcaa agctggtaag
     2941 tgacaagggc tttcgtggaa acttggcctg acctaatgtt gggcatcagg ttacccaaag
     3001 agcttcaggg aaatgagaaa ggacttgcag gtcttgatga gaatggaggg gtaactgcca
     3061 atgagggctt tggctttagc gaaagtctga aagggaagcc ataggaactt aaacgtaccg
     3121 actataaagc tctgagaaaa gctgatgttt tagaaagacc atacattcta ggtacaaata
     3181 cctaaaaact aaaaaataag tacgttggcc aggcgggcgg atcacgaagt caggagattg
     3241 agaccatcct gggcccctgg tgaaacccca cctctattaa aaatacaaaa attagctggg
     3301 cgtggtggcg cttgcctgta atctcagcta ctctagaggc tgaggcagga gatcgcttga
     3361 accccggagg cggaggctgc agtgagccga gatcgtgcca ctgcactcca gcctggtgac
     3421 agcgagactc ttgtctcaaa aaaaaaaaag tacattgcta taagagaagt gcacacggat
     3481 actagtagtt aattcagtca catctgtgaa atagcttata aaatgctact tttaaacaag
     3541 ctgtttttat gaaagggctt gtaaatgttt atggtattta agctacctct ctagccataa
     3601 cgtattatac attcaagaaa ggttcaaaac cagatatact agaaaccaat ctttattttt
     3661 taccccacta ctaggtaagg gcctggatac caagaagtga ctgctcatct aatccataaa
     3721 gctatgttaa cagattggag gtagtagcat tttcattaca agtgactaaa agaacagctg
     3781 tttacccctg atcgtgcagc agtgcttgct gttccttaga attttgcctt gtaagttcta
     3841 gctcaagttg gggggtggtg atagacattt aagaagccat atatcttttc agaagtaggt
     3901 gtgatgtact aaaagtttga gacactttct agaagtctca ctatttaagt tatgactagt
     3961 attggatttt tggcatgtct ttgggtttca tgtttcttaa cccaactgcc tgcagggcct
     4021 tatggctgtc aggagcagtt cttgggaatt aaagtaatta ctgaagaagt attctagtga
     4081 gaaaatgaat ttatgactca gaagccccta aagacatggg tactaagcaa caaaataagc
     4141 agatgttaat taactgtaat tttctcttac agctgtttgc agacaaggtc ccaaagacag
     4201 caggttggtc cattttctaa gtttaacaaa gatgttccaa ttgtgacagt ttgtgtgtgt
     4261 gtgtgtatat atatattttt atgtatgtat atatgtgttt aatttttttt taaacagaaa
     4321 attttcgtgc tctgagcact ggagagaaag gatttggtta taagggttcc tgctttcaca
     4381 gaattattcc agggtttatg tgtcaggtac gaaatttact gaattttatt ttatttgggt
     4441 tgctcccttc atttgggatt gagccagaat atttcaggat acacatatct gaactgttac
     4501 tctaccattt cggttctatt taacccttct attcagtttg aacttgggtt taaagtttga
     4561 accttgcaga tttggcacac ttcatggtta tgttgtcaga agtgacattt ttcctatatg
     4621 ttgacagggt ggtgacttca cacgccataa tggcactggt ggcaagtcca tctatgggga
     4681 gaaatttgaa gatgagaact tcatcctaaa gcatacgggt cctggcatct tgtccatggc
     4741 aaatgctgga cccaacacaa atggttccca gtttttcatc tgcactgcca agactgagtg
     4801 gtaagggtac aacatggcac actaaccacc tgactaaatg aaaagttgcc ctggggggaa
     4861 cggaacaaac actacttttc ttcaaccttt gcttccacag actttttcat ccctaagata
     4921 ctagaagaag agcatacata aatgacaaat atagccaatg tgatacagaa tgtcagatac
     4981 tatgatagaa acttggccct tagctgggtg gttgaattag gtgctacttt tttgagatgg
     5041 agttttgctc tgttgccagg ttggagtgca gtggcacaat ctgggctcac tgcaacctct
     5101 gcctcctggg ttcaagcgat tctcctgcct tggcctcctg agtagctgag aatacagatg
     5161 tgtgccagca tgcctggcta attttttgta tttttgtgga gacggggttt catcatgttg
     5221 gccaagctgg tcttgaactc gtgacttaag gtgaaccacc tgccttggcc ccccaaagtg
     5281 ctgggatttc aggcatgagc cactgcgccc aaccaattaa gtgctttttt tttttttttt
     5341 cttttctcag actggatctc gctcttatct cccaggttgg agtgcagtgg tgccatctca
     5401 gctcactgca acctcctccc gggttcaagc aattcttctg cctcagcctc tcaagtagct
     5461 ggaactacag gcatgcacca ccactcccag ctaaattgtg tattattagt agagcgggat
     5521 ttaccatgtt gtccaggctg gtctcgaact cctgggctca agtgatctgc ctgccttgac
     5581 ccccccgaag tgctgggatt acaggcatga gccactgtgc ccacccaatt aagtgctgct
     5641 tttatgttac tattaataac atgcggttgg ttgggttttt tgtttctttg gggtttttgt
     5701 tttgttttgt ttgtttttgg gggagggggg cgcaattcat tctatatgtg taactctttt
     5761 ttgagatgga gtttcgctct gtcgcccagg ctggagtgca gtggcgcgat ctcggctcac
     5821 tgcaagctcc gcctcccagg ttcacgccat tctcctgcct cagcctcccg agtagctggg
     5881 actataggca catgccacca tgcccggcta attttttgta tttttagtag agacagggtt
     5941 tcaccgtgtt agccaggatg gtctcgatct cctgacctcg tgatccgccc gccttggcct
     6001 cccaaagtgc tgggattaca ggcgtgagcc accgcacccg gcctatatgt gtaactcttt
     6061 aatggtaatt ggagaatcat gtttaatgac atttagtaca aaaggcttca gttaaaaaaa
     6121 aaaaaaaaaa gctacctttc tcgtcttggt tcatgacaca tggaggctgc ttgtttgtgg
     6181 ttgccagtca taatgattgt tcttcctttt caaggttgga tggcaagcat gtggtgtttg
     6241 gcaaagtgaa agaaggcatg aatattgtgg aggccatgga gcgctttggg tccaggaatg
     6301 gcaagaccag caagaagatc accattgctg actgtggaca actcgaataa gtttgacttg
     6361 tgttttatct taaccaccag atcattcctt ctgtagctca ggagagcacc cctccacccc
     6421 atttgctcgc agtatcctag aatctttgtg ctctcgctgc agttcccttt gggttccatg
     6481 ttttccttgt tccctcccat gcctagctgg attgcagagt taagtttatg attatgaaat
     6541 aaaaactaaa taacaattgt cctcgtttga gttaagtgtt gatgtaggct ttattttaag
     6601 cagtaatggg ttacttctga aacatcactt gtttgcttaa ttctacacag tacttagatt
     6661 ttttttactt tccagtccca ggaagtgtca atgtttgttg agtggaatat t
//



Revised: July 5, 2002.
 
 


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1: NM_006135. Homo sapiens capp...[gi:5453596] Links  


LOCUS       CAPZA1                  2385 bp    mRNA    linear   PRI 16-MAY-2002
DEFINITION  Homo sapiens capping protein (actin filament) muscle Z-line, alpha
            1 (CAPZA1), mRNA.
ACCESSION   NM_006135
VERSION     NM_006135.1  GI:5453596
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2385)
  AUTHORS   Barron-Casella,E.A., Torres,M.A., Scherer,S.W., Heng,H.H.,
            Tsui,L.C. and Casella,J.F.
  TITLE     Sequence analysis and chromosomal localization of human Cap Z.
            Conserved residues within the actin-binding domain may link Cap Z
            to gelsolin/severin and profilin protein families
  JOURNAL   J. Biol. Chem. 270 (37), 21472-21479 (1995)
  MEDLINE   95394897
   PUBMED   7665558
REFERENCE   2  (bases 1 to 2385)
  AUTHORS   Hart,M.C., Korshunova,Y.O. and Cooper,J.A.
  TITLE     Vertebrates have conserved capping protein alpha isoforms with
            specific expression patterns
  JOURNAL   Cell Motil. Cytoskeleton 38 (2), 120-132 (1997)
  MEDLINE   97470757
   PUBMED   9331217
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U56637.1.
            Summary: CAPZA1 is a member of the F-actin capping protein alpha
            subunit family. This gene encodes the alpha subunit of the
            barbed-end actin binding protein.  The protein regulates growth of
            the actin filament by capping the barbed end of growing actin
            filaments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2385
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p12"
     gene            1..2385
                     /gene="CAPZA1"
                     /note="CAPZ; CAZ1; CAPPA1"
                     /db_xref="LocusID:829"
                     /db_xref="MIM:601580"
     CDS             1..861
                     /gene="CAPZA1"
                     /note="Cap Z"
                     /codon_start=1
                     /product="F-actin capping protein alpha-1 subunit"
                     /protein_id="NP_006126.1"
                     /db_xref="GI:5453597"
                     /db_xref="LocusID:829"
                     /db_xref="MIM:601580"
                     /translation="MADFDDRVSDEEKVRIAAKFITHAPPGEFNEVFNDVRLLLNNDN
                     LLREGAAHAFAQYNMDQFTPVKIEGYEDQVLITEHGDLGNSRFLDPRNKISFKFDHLR
                     KEASDPQPEEADGGLKSWRESCDSALRAYVKDHYSNGFCTVYAKTIDGQQTIIACIES
                     HQFQPKNFWNGRWRSEWKFTITPPTAQVVGVLKIQVHYYEDGNVQLVSHKDVQDSLTV
                     SNEAQTAKEFIKIIENAENEYQTAISENYQTMSDTTFKALRRQLPVTRTKIDWNKILS
                     YKIGKEMQNA"
     misc_feature    34..846
                     /gene="CAPZA1"
                     /note="F-actin_cap_A; Region: F-actin capping protein
                     alpha subunit"
                     /db_xref="CDD:pfam01267"
     variation       336
                     /gene="CAPZA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3790599"
     variation       780
                     /gene="CAPZA1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1060163"
     variation       complement(1122)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3103452"
     variation       1363
                     /gene="CAPZA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1060168"
     variation       1575
                     /gene="CAPZA1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1060171"
     variation       1784
                     /gene="CAPZA1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1802930"
     variation       1830
                     /gene="CAPZA1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1802931"
     variation       2118
                     /gene="CAPZA1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1060223"
     variation       complement(2229)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1238"
     polyA_signal    2268..2273
                     /gene="CAPZA1"
     polyA_site      2366
                     /gene="CAPZA1"
BASE COUNT      724 a    448 c    447 g    766 t
ORIGIN      
        1 atggccgact tcgatgatcg tgtgtcggat gaggagaagg tacgcatagc tgctaaattc
       61 atcactcatg cacccccagg ggaatttaat gaagtattca atgacgttcg gctactactt
      121 aataatgaca atctcctcag ggaaggggca gcacatgcat ttgcccagta taacatggat
      181 cagttcacgc ctgtgaagat agaaggatat gaagatcagg tcttaattac agagcacggt
      241 gacctgggta atagcagatt tttagatcca agaaacaaaa tttcctttaa atttgaccac
      301 ttacggaaag aagcaagtga cccccagcca gaagaagcag atggaggtct gaagtcttgg
      361 agagaatcct gtgacagtgc tttaagagcc tatgtgaaag accattattc caacggcttc
      421 tgtactgttt atgctaaaac tatcgatggg caacagacta ttattgcatg tattgaaagc
      481 caccagtttc agcctaaaaa cttctggaat ggtcgttgga gatcagagtg gaagttcacc
      541 atcacaccac ctacagccca ggtggttggc gtgcttaaga ttcaggttca ctattatgaa
      601 gatggcaatg ttcagttggt tagtcataaa gatgtacagg attcactaac tgtttcgaat
      661 gaagcccaaa ctgccaagga gtttattaaa atcatagaga atgcagaaaa tgagtatcag
      721 acagcaatta gtgaaaacta tcaaacaatg tcagatacca cattcaaggc cttgcgccgc
      781 cagcttccag ttacccgcac caaaatcgac tggaacaaga tactcagcta caagattggc
      841 aaagaaatgc agaatgctta aaggctgaat gtaggattct tcagtatgtg gaaagacaag
      901 gattcaacgt gtggtcatat gataaataag tgatttataa acaagagtga tattttgcta
      961 gggctttcaa agttaaccgg ttttctagcc tcatggaata ctgttgaacc tatagcgttg
     1021 tcttgattct tttgtgttct ctgccttgta attttctgtt actgctatat ctacgtgtaa
     1081 atcttttttt cttttttttt tttttttttt ttcttttttg gttaattctg ccacatttaa
     1141 tgttggtgag agagtgatct atcctaatga catttactgt ttaaaaaagt ttcctagcca
     1201 tgaagccctg ctactgattt agacaaggta ttatggtcat tactttgtac ccctatcctt
     1261 ccaagcactt ctggtacttc agtcgttttt actgatccac caacacctaa agaggctatg
     1321 ctacagtctc tagctaaatg gaagacacat tcatccttct ccctctgact gctttgatca
     1381 tcatttattg catcgtcata tcatatttat cgcatctcat aactaacttt ctaaagtttg
     1441 gattgggact tttcaggtcc tttttggagg gcaaaggaag ttccagcttc tctggggaac
     1501 ttgtttttaa atccaaagac ttgaaccaca ttccctgcac atgaacatgt ttgcttttat
     1561 cccttctctc attggctcct tcccatctta gtaccattgt agttatacat ctgcattttt
     1621 tagaagcatt ttacccattt atttttttaa acattcaaga actgctgacg tactgtggat
     1681 gtagagtata aaacttgaaa aatgcagatg ttgaaggaat aataggtatc ttgtgcttta
     1741 atactttatg gcaggattgt actataagca aatgaattaa acagctatgt aaatcataaa
     1801 gaaaaactaa aaatgaacca aagtgaaagg ataacttcca ggcagtatct ttctattgta
     1861 acctgttatt taaggaaata ctagtgattt cttctaaata ggatgtaaac ttctttcaaa
     1921 ttactcttcc tcagtctgcc tgccaagaac tcaagtgtaa ctgtgataaa ataacctttc
     1981 ccaggtatat tcggcaggta tgtgtgtaat ctcagaatac acaggtgaca tagatatgat
     2041 atgacaactg gtaatggtgg attcatttac attgtttaca cttctatgac caggccttaa
     2101 gggaaggtca gttttttaaa aaaccaagta gtgtcttcct acctatctcc agatacatgt
     2161 caaaaagaaa aggtgtttgt gctccgtttt gtttctgctc agtaatatag tcaagcaagt
     2221 ttgttccagg tgacccattg agctgtgtat gcatttttgt ttatttcaat aaaatatatt
     2281 tgtattattt gtccttcata ctatccatcc ataccacact atcttctgta tcaggtagtc
     2341 taatagaaat atacctgttt tgttctaaaa aaaaaaaaaa aaaaa
//



Revised: July 5, 2002.
 
 


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1: U56637. Human capping pro...[gi:1336098] Links  


LOCUS       HSU56637                2385 bp    mRNA    linear   PRI 04-FEB-1998
DEFINITION  Human capping protein alpha subunit isoform 1 mRNA, complete cds.
ACCESSION   U56637
VERSION     U56637.1  GI:1336098
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2385)
  AUTHORS   Hart,M.C., Korshunova,Y.O. and Cooper,J.A.
  TITLE     Vertebrates have conserved capping protein alpha isoforms with
            specific expression patterns
  JOURNAL   Cell Motil. Cytoskeleton 38 (2), 120-132 (1997)
  MEDLINE   97470757
   PUBMED   9331217
REFERENCE   2  (bases 1 to 2385)
  AUTHORS   Hart,M.C., Korshunova,Y.O. and Cooper,J.A.
  TITLE     Direct Submission
  JOURNAL   Submitted (25-APR-1996) Marilyn C. Hart, Cell Biology & Physiology,
            Washington University, Box 8228, 660 S. Euclid Ave., St. Louis, MO
            63110, USA
FEATURES             Location/Qualifiers
     source          1..2385
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
     source          1..33
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /tissue_type="testis"
                     /note="derived by RACE from RNA"
     source          34..2385
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /clone="G4021"
                     /tissue_type="heart"
                     /dev_stage="fetal"
                     /note="see also EST sequence, GenBank Accession Number
                     R58525"
     source          812..2385
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /clone="146582"
                     /tissue_type="placenta"
     CDS             1..861
                     /function="binds barbed ends of actin filaments"
                     /codon_start=1
                     /product="capping protein alpha subunit isoform 1"
                     /protein_id="AAC00533.1"
                     /db_xref="GI:1336099"
                     /translation="MADFDDRVSDEEKVRIAAKFITHAPPGEFNEVFNDVRLLLNNDN
                     LLREGAAHAFAQYNMDQFTPVKIEGYEDQVLITEHGDLGNSRFLDPRNKISFKFDHLR
                     KEASDPQPEEADGGLKSWRESCDSALRAYVKDHYSNGFCTVYAKTIDGQQTIIACIES
                     HQFQPKNFWNGRWRSEWKFTITPPTAQVVGVLKIQVHYYEDGNVQLVSHKDVQDSLTV
                     SNEAQTAKEFIKIIENAENEYQTAISENYQTMSDTTFKALRRQLPVTRTKIDWNKILS
                     YKIGKEMQNA"
     polyA_signal    2268..2273
BASE COUNT      724 a    448 c    447 g    766 t
ORIGIN      
        1 atggccgact tcgatgatcg tgtgtcggat gaggagaagg tacgcatagc tgctaaattc
       61 atcactcatg cacccccagg ggaatttaat gaagtattca atgacgttcg gctactactt
      121 aataatgaca atctcctcag ggaaggggca gcacatgcat ttgcccagta taacatggat
      181 cagttcacgc ctgtgaagat agaaggatat gaagatcagg tcttaattac agagcacggt
      241 gacctgggta atagcagatt tttagatcca agaaacaaaa tttcctttaa atttgaccac
      301 ttacggaaag aagcaagtga cccccagcca gaagaagcag atggaggtct gaagtcttgg
      361 agagaatcct gtgacagtgc tttaagagcc tatgtgaaag accattattc caacggcttc
      421 tgtactgttt atgctaaaac tatcgatggg caacagacta ttattgcatg tattgaaagc
      481 caccagtttc agcctaaaaa cttctggaat ggtcgttgga gatcagagtg gaagttcacc
      541 atcacaccac ctacagccca ggtggttggc gtgcttaaga ttcaggttca ctattatgaa
      601 gatggcaatg ttcagttggt tagtcataaa gatgtacagg attcactaac tgtttcgaat
      661 gaagcccaaa ctgccaagga gtttattaaa atcatagaga atgcagaaaa tgagtatcag
      721 acagcaatta gtgaaaacta tcaaacaatg tcagatacca cattcaaggc cttgcgccgc
      781 cagcttccag ttacccgcac caaaatcgac tggaacaaga tactcagcta caagattggc
      841 aaagaaatgc agaatgctta aaggctgaat gtaggattct tcagtatgtg gaaagacaag
      901 gattcaacgt gtggtcatat gataaataag tgatttataa acaagagtga tattttgcta
      961 gggctttcaa agttaaccgg ttttctagcc tcatggaata ctgttgaacc tatagcgttg
     1021 tcttgattct tttgtgttct ctgccttgta attttctgtt actgctatat ctacgtgtaa
     1081 atcttttttt cttttttttt tttttttttt ttcttttttg gttaattctg ccacatttaa
     1141 tgttggtgag agagtgatct atcctaatga catttactgt ttaaaaaagt ttcctagcca
     1201 tgaagccctg ctactgattt agacaaggta ttatggtcat tactttgtac ccctatcctt
     1261 ccaagcactt ctggtacttc agtcgttttt actgatccac caacacctaa agaggctatg
     1321 ctacagtctc tagctaaatg gaagacacat tcatccttct ccctctgact gctttgatca
     1381 tcatttattg catcgtcata tcatatttat cgcatctcat aactaacttt ctaaagtttg
     1441 gattgggact tttcaggtcc tttttggagg gcaaaggaag ttccagcttc tctggggaac
     1501 ttgtttttaa atccaaagac ttgaaccaca ttccctgcac atgaacatgt ttgcttttat
     1561 cccttctctc attggctcct tcccatctta gtaccattgt agttatacat ctgcattttt
     1621 tagaagcatt ttacccattt atttttttaa acattcaaga actgctgacg tactgtggat
     1681 gtagagtata aaacttgaaa aatgcagatg ttgaaggaat aataggtatc ttgtgcttta
     1741 atactttatg gcaggattgt actataagca aatgaattaa acagctatgt aaatcataaa
     1801 gaaaaactaa aaatgaacca aagtgaaagg ataacttcca ggcagtatct ttctattgta
     1861 acctgttatt taaggaaata ctagtgattt cttctaaata ggatgtaaac ttctttcaaa
     1921 ttactcttcc tcagtctgcc tgccaagaac tcaagtgtaa ctgtgataaa ataacctttc
     1981 ccaggtatat tcggcaggta tgtgtgtaat ctcagaatac acaggtgaca tagatatgat
     2041 atgacaactg gtaatggtgg attcatttac attgtttaca cttctatgac caggccttaa
     2101 gggaaggtca gttttttaaa aaaccaagta gtgtcttcct acctatctcc agatacatgt
     2161 caaaaagaaa aggtgtttgt gctccgtttt gtttctgctc agtaatatag tcaagcaagt
     2221 ttgttccagg tgacccattg agctgtgtat gcatttttgt ttatttcaat aaaatatatt
     2281 tgtattattt gtccttcata ctatccatcc ataccacact atcttctgta tcaggtagtc
     2341 taatagaaat atacctgttt tgttctaaaa aaaaaaaaaa aaaaa
//



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1: NM_004334. Homo sapiens bone...[gi:4757873] Links  


LOCUS       BST1                    1411 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens bone marrow stromal cell antigen 1 (BST1), mRNA.
ACCESSION   NM_004334
VERSION     NM_004334.1  GI:4757873
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1411)
  AUTHORS   Kaisho,T., Ishikawa,J., Oritani,K., Inazawa,J., Tomizawa,H.,
            Muraoka,O., Ochi,T. and Hirano,T.
  TITLE     BST-1, a surface molecule of bone marrow stromal cell lines that
            facilitates pre-B-cell growth
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 91 (12), 5325-5329 (1994)
  MEDLINE   94261578
   PUBMED   8202488
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D21878.1.
            Summary: Bone marrow stromal cell antigen-1 is a stromal cell
            line-derived glycosylphosphatidylinositol-anchored molecule that
            facilitates pre-B-cell growth. The deduced amino acid sequence
            exhibits 33% similarity with CD38. BST1 expression is enhanced in
            bone marrow stromal cell lines derived from patients with
            rheumatoid arthritis. The polyclonal B-cell abnormalities in
            rheumatoid arthritis may be, at least in part, attributed to BST1
            overexpression in the stromal cell population.
FEATURES             Location/Qualifiers
     source          1..1411
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p15"
     gene            1..1411
                     /gene="BST1"
                     /note="CD157"
                     /db_xref="LocusID:683"
                     /db_xref="MIM:600387"
     CDS             128..1084
                     /gene="BST1"
                     /function="facilitates pre-B-cell growth"
                     /codon_start=1
                     /product="bone marrow stromal cell antigen 1 precursor"
                     /protein_id="NP_004325.1"
                     /db_xref="GI:4757874"
                     /db_xref="LocusID:683"
                     /db_xref="MIM:600387"
                     /translation="MAAQGCAASRLLQLLLQLLLLLLLLAAGGARARWRAEGTSAHLR
                     DIFLGRCAEYRALLSPEQRNKNCTAIWEAFKVALDKDPCSVLPSDYDLFINLSRHSIP
                     RDKSLFWENSHLLVNSFADNTRRFMPLSDVLYGRVADFLSWCRQKNDSGLDYQSCPTS
                     EDCENNPVDSFWKRASIQYSKDSSGVIHVMLNGSEPTGAYPIKGFFADYEIPNLQKEK
                     ITRIEIWVMHEIGGPNVESCGEGSMKVLEKRLKDMGFQYSCINDYRPVKLLQCVDHST
                     HPDCALKSAAAATQRKAPSLYTEQRAGLIIPLFLVLASRTQL"
     sig_peptide     128..211
                     /gene="BST1"
     mat_peptide     212..1081
                     /gene="BST1"
                     /product="bone marrow stromal cell antigen 1"
     misc_feature    245..967
                     /gene="BST1"
                     /note="Region: pfam02267, Rib_hydrolayse, ADP-ribosyl
                     cyclase. ADP-ribosyl cyclase EC:3.2.2.5 (also know as
                     cyclic ADP-ribose hydrolase or CD38) synthesizes
                     cyclic-ADP ribose, a second messenger for glucose-induced
                     insulin secretion"
     variation       complement(234)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2302468"
     variation       complement(357)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2302466"
     variation       complement(501)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2302465"
     variation       1070
                     /gene="BST1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1058212"
BASE COUNT      363 a    339 c    362 g    347 t
ORIGIN      
        1 cgggaaacgg caaacagcga gatatccgag cgagagtccc gccctgcatc agtttgcgga
       61 accgccttgg tagaaggaga gaaggggagt ggaggaagca cgggactgga gggaccaaag
      121 ttccccgatg gcggcccagg ggtgcgcggc atcgcggctg ctccagctgc tgctgcagct
      181 tctgcttcta ctgttgctgc tggcggcggg cggggcgcgc gcgcggtggc gcgcggaggg
      241 caccagcgca cacttgcggg acatcttcct gggccgctgc gccgagtacc gcgcactgct
      301 gagtcccgag cagcggaaca agaactgcac agccatctgg gaagccttta aagtggcgct
      361 ggacaaggat ccctgctccg tgctgccctc agactatgac ctttttatta acttgtccag
      421 gcactctatt cccagagata agtccctgtt ctgggaaaat agccacctcc ttgttaacag
      481 ctttgcagac aacacccgtc gttttatgcc cctgagcgat gttctgtatg gcagggttgc
      541 agatttcttg agctggtgtc gacagaaaaa tgactctgga ctcgattacc aatcctgccc
      601 tacatcagaa gactgtgaaa ataatcctgt ggattccttt tggaaaaggg catccatcca
      661 gtattccaag gatagttctg gggtgatcca cgtcatgctg aatggttcag agccaacagg
      721 agcctatccc atcaaaggtt tttttgcaga ttatgaaatt ccaaacctcc agaaggaaaa
      781 aattacacga atcgagatct gggttatgca tgaaattggg ggacccaatg tggaatcctg
      841 cggggaaggc agcatgaaag tcctggaaaa gaggctgaag gacatggggt tccagtacag
      901 ctgtattaat gattaccgac cagtgaagct cttacagtgc gtggaccaca gcacccatcc
      961 tgactgtgcc ttaaagtcgg cagcagccgc tactcaaaga aaagccccaa gtctttatac
     1021 agaacaaagg gcgggtctta tcattcccct ctttctggtg ctggcttccc ggactcaact
     1081 gtaactggaa actgtgttgc tctaaccctc ctccagccct gcagcctccc cttgcagtca
     1141 tcattcgtgt tctgtgtata ccaaatgatt ctgttatcta aagaagcttt ttgctgggaa
     1201 aacgatgtcc tgaaaatggt atttcaatga ggcatatgtt caggatttca gaaacaagaa
     1261 gttagttcta tttagcaggt taaaaaatgc tgcattagaa ttaaagcaag ttattttctt
     1321 atttgtataa tgacacaaag cattgggagt cagactgctt gtatattatc aaacatttta
     1381 agagaattct aataaagctg tattttacat c
//



Revised: July 5, 2002.
 
 


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1: D21878. Human mRNA for BS...[gi:506334] Links  


LOCUS       D21878                  1411 bp    mRNA    linear   PRI 01-FEB-2000
DEFINITION  Human mRNA for BST-1, complete cds.
ACCESSION   D21878
VERSION     D21878.1  GI:506334
KEYWORDS    BST-1; pre-B cell growth; CD157.
SOURCE      Homo sapiens bone marrow stromal cell cDNA to mRNA, clone BST-1.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1411)
  AUTHORS   Kaisho,T., Ishikawa,J., Oritani,K., Inazawa,J., Tomizawa,H.,
            Muraoka,O., Ochi,T. and Hirano,T.
  TITLE     BST-1, a surface molecule of bone marrow stromal cell lines that
            facilitates pre-B-cell growth
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 91 (12), 5325-5329 (1994)
  MEDLINE   94261578
REFERENCE   2  (bases 1 to 1411)
  AUTHORS   Hirano,T.
  TITLE     Direct Submission
  JOURNAL   Submitted (01-NOV-1993) Toshio Hirano, Osaka Univ. Med. Sch.,
            Division of Molecular Oncology; 2-2, Yamadaoka, Suita, Osaka 565,
            Japan (Tel:06-879-3880, Fax:06-879-3889)
FEATURES             Location/Qualifiers
     source          1..1411
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4p15"
                     /cell_type="bone marrow stromal cell"
     CDS             128..1084
                     /codon_start=1
                     /product="BST-1 precursor"
                     /protein_id="BAA04885.1"
                     /db_xref="GI:999429"
                     /translation="MAAQGCAASRLLQLLLQLLLLLLLLAAGGARARWRAEGTSAHLR
                     DIFLGRCAEYRALLSPEQRNKNCTAIWEAFKVALDKDPCSVLPSDYDLFINLSRHSIP
                     RDKSLFWENSHLLVNSFADNTRRFMPLSDVLYGRVADFLSWCRQKNDSGLDYQSCPTS
                     EDCENNPVDSFWKRASIQYSKDSSGVIHVMLNGSEPTGAYPIKGFFADYEIPNLQKEK
                     ITRIEIWVMHEIGGPNVESCGEGSMKVLEKRLKDMGFQYSCINDYRPVKLLQCVDHST
                     HPDCALKSAAAATQRKAPSLYTEQRAGLIIPLFLVLASRTQL"
     sig_peptide     128..211
     mat_peptide     212..1081
                     /product="BST-1"
                     /function="facilitate pre-B-cell growth"
BASE COUNT      363 a    339 c    362 g    347 t
ORIGIN      
        1 cgggaaacgg caaacagcga gatatccgag cgagagtccc gccctgcatc agtttgcgga
       61 accgccttgg tagaaggaga gaaggggagt ggaggaagca cgggactgga gggaccaaag
      121 ttccccgatg gcggcccagg ggtgcgcggc atcgcggctg ctccagctgc tgctgcagct
      181 tctgcttcta ctgttgctgc tggcggcggg cggggcgcgc gcgcggtggc gcgcggaggg
      241 caccagcgca cacttgcggg acatcttcct gggccgctgc gccgagtacc gcgcactgct
      301 gagtcccgag cagcggaaca agaactgcac agccatctgg gaagccttta aagtggcgct
      361 ggacaaggat ccctgctccg tgctgccctc agactatgac ctttttatta acttgtccag
      421 gcactctatt cccagagata agtccctgtt ctgggaaaat agccacctcc ttgttaacag
      481 ctttgcagac aacacccgtc gttttatgcc cctgagcgat gttctgtatg gcagggttgc
      541 agatttcttg agctggtgtc gacagaaaaa tgactctgga ctcgattacc aatcctgccc
      601 tacatcagaa gactgtgaaa ataatcctgt ggattccttt tggaaaaggg catccatcca
      661 gtattccaag gatagttctg gggtgatcca cgtcatgctg aatggttcag agccaacagg
      721 agcctatccc atcaaaggtt tttttgcaga ttatgaaatt ccaaacctcc agaaggaaaa
      781 aattacacga atcgagatct gggttatgca tgaaattggg ggacccaatg tggaatcctg
      841 cggggaaggc agcatgaaag tcctggaaaa gaggctgaag gacatggggt tccagtacag
      901 ctgtattaat gattaccgac cagtgaagct cttacagtgc gtggaccaca gcacccatcc
      961 tgactgtgcc ttaaagtcgg cagcagccgc tactcaaaga aaagccccaa gtctttatac
     1021 agaacaaagg gcgggtctta tcattcccct ctttctggtg ctggcttccc ggactcaact
     1081 gtaactggaa actgtgttgc tctaaccctc ctccagccct gcagcctccc cttgcagtca
     1141 tcattcgtgt tctgtgtata ccaaatgatt ctgttatcta aagaagcttt ttgctgggaa
     1201 aacgatgtcc tgaaaatggt atttcaatga ggcatatgtt caggatttca gaaacaagaa
     1261 gttagttcta tttagcaggt taaaaaatgc tgcattagaa ttaaagcaag ttattttctt
     1321 atttgtataa tgacacaaag cattgggagt cagactgctt gtatattatc aaacatttta
     1381 agagaattct aataaagctg tattttacat c
//



Revised: July 5, 2002.
 
 


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1: NM_006200. Homo sapiens prop...[gi:20336245] Links  


LOCUS       PCSK5                   3299 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5),
            mRNA.
ACCESSION   NM_006200
VERSION     NM_006200.2  GI:20336245
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3299)
  AUTHORS   Mbikay,M., Seidah,N.G., Chretien,M. and Simpson,E.M.
  TITLE     Chromosomal assignment of the genes for proprotein convertases PC4,
            PC5, and PACE 4 in mouse and human
  JOURNAL   Genomics 26 (1), 123-129 (1995)
  MEDLINE   95301277
   PUBMED   7782070
REFERENCE   2  (bases 1 to 3299)
  AUTHORS   Miranda,L., Wolf,J., Pichuantes,S., Duke,R. and Franzusoff,A.
  TITLE     Isolation of the human PC6 gene encoding the putative host protease
            for HIV-1 gp160 processing in CD4+ T lymphocytes
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 93 (15), 7695-7700 (1996)
  MEDLINE   96353880
   PUBMED   8755538
REFERENCE   3  (bases 1 to 3299)
  AUTHORS   Mercure,C., Jutras,I., Day,R., Seidah,N.G. and Reudelhuber,T.L.
  TITLE     Prohormone convertase PC5 is a candidate processing enzyme for
            prorenin in the human adrenal cortex
  JOURNAL   Hypertension 28 (5), 840-846 (1996)
  MEDLINE   97057493
   PUBMED   8901832
REFERENCE   4  (bases 1 to 3299)
  AUTHORS   van de Loo,J.W., Creemers,J.W., Kas,K., Roebroek,A.J. and Van de
            Ven,W.J.
  TITLE     Assignment of the human proprotein convertase gene PCSK5 to
            chromosome 9q21.3
  JOURNAL   Cytogenet. Cell Genet. 75 (4), 227-229 (1996)
  MEDLINE   97220055
   PUBMED   9067430
REFERENCE   5  (bases 1 to 3299)
  AUTHORS   Lissitzky,J.C., Luis,J., Munzer,J.S., Benjannet,S., Parat,F.,
            Chretien,M., Marvaldi,J. and Seidah,N.G.
  TITLE     Endoproteolytic processing of integrin pro-alpha subunits involves
            the redundant function of furin and proprotein convertase (PC) 5A,
            but not paired basic amino acid converting enzyme (PACE) 4, PC5B or
            PC7
  JOURNAL   Biochem. J. 346 Pt 1, 133-138 (2000)
  MEDLINE   20125591
   PUBMED   10657249
REFERENCE   6  (bases 1 to 3299)
  AUTHORS   Bassi,D.E., Mahloogi,H. and Klein-Szanto,A.J.
  TITLE     The proprotein convertases furin and PACE4 play a significant role
            in tumor progression
  JOURNAL   Mol. Carcinog. 28 (2), 63-69 (2000)
  MEDLINE   20362110
   PUBMED   10900462
REFERENCE   7  (bases 1 to 3299)
  AUTHORS   Yana,I. and Weiss,S.J.
  TITLE     Regulation of membrane type-1 matrix metalloproteinase activation
            by proprotein convertases
  JOURNAL   Mol. Biol. Cell 11 (7), 2387-2401 (2000)
  MEDLINE   20346965
   PUBMED   10888676
REFERENCE   8  (bases 1 to 3299)
  AUTHORS   Pearton,D.J., Nirunsuksiri,W., Rehemtulla,A., Lewis,S.P.,
            Presland,R.B. and Dale,B.A.
  TITLE     Proprotein convertase expression and localization in epidermis:
            evidence for multiple roles and substrates
  JOURNAL   Exp. Dermatol. 10 (3), 193-203 (2001)
  MEDLINE   21275449
   PUBMED   11380615
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC012064.1.
            On Apr 28, 2002 this sequence version replaced gi:11321618.
            Summary: The protein encoded by this gene belongs to the
            subtilisin-like proprotein convertase family. The members of this
            family are proprotein convertases that process latent precursor
            proteins into their biologically active products. This encoded
            protein mediates posttranslational endoproteolytic processing for
            several integrin alpha subunits. It is thought to process prorenin,
            pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein
            gp160. Two alternatively spliced transcripts are described for this
            gene but only one has its full length nature known.
FEATURES             Location/Qualifiers
     source          1..3299
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.3"
                     /clone="MGC:19910 IMAGE:4562734"
                     /clone_lib="NIH_MGC_14"
     gene            1..3299
                     /gene="PCSK5"
                     /note="PC5; PC6; PC6A; SPC6"
                     /db_xref="LocusID:5125"
                     /db_xref="MIM:600488"
     CDS             478..3219
                     /gene="PCSK5"
                     /EC_number="3.4.21.-"
                     /note="protease PC6; prohormone convertase 5;
                     subtilisin/kexin-like protease PC5; proprotein convertase
                     PC5"
                     /codon_start=1
                     /product="proprotein convertase subtilisin/kexin type 5
                     preproprotein"
                     /protein_id="NP_006191.2"
                     /db_xref="GI:20336246"
                     /db_xref="LocusID:5125"
                     /db_xref="MIM:600488"
                     /translation="MGWGSRCCCPGRLDLLCVLALLGGCLLPVCRTRVYTNHWAVKIA
                     GGFPEANRIASKYGFINIGQIGALKDYYHFYHSRTIKRSVISSRGTHSFISMEPKVEW
                     IQQQVVKKRTKRDYDFSRAQSTYFNDPKWPSMWYMHCSDNTHPCQSDMNIEGAWKRGY
                     TGKNIVVTILDDGIERTHPDLMQNYDALASCDVNGNDLDPMPRYDASNENKHGTRCAG
                     EVAAAANNSHCTVGIAFNAKIGGVRMLDGDVTDMVEAKSVSFNPQHVHIYSASWGPDD
                     DGKTVDGPAPLTRQAFENGVRMGRRGLGSVFVWASGNGGRSKDHCSCDGYTNSIYTIS
                     ISSTAESGKKPWYLEECSSTLATTYSSGESYDKKIITTDLRQRCTDNHTGTSASAPMA
                     AGIIALALEANPFLTWRDVQHVIVRTSRAGHLNANDWKTNAAGFKVSHLYGFGLMDAE
                     AMVMEAEKWTTVPRQHVCVESTDRQIKTIRPNSAVRSIYKASGCSDNPNRHVNYLEHV
                     VVRITITHPRRGDLAIYLTSPSGTRSQLLANRLFDHSMEGFKNWEFMTIHCWGERAAG
                     DWVLEVYDTPSQLRNFKTPGKLKEWSLVLYGTSVQPYSPTNEFPKVERFRYSRVEDPT
                     DDYGTEDYAGPCDPECSEVGCDGPGPDHCNDCLHYYYKLKNNTRICVSSCPPGHYHAD
                     KKRCRKCAPNCESCFGSHGDQCMSCKYGYFLNEETNSCVTHCPDGSYQDTKKNLCRKC
                     SENCKTCTEFHNCTECRDGLSLQGSRCSVSCEDGRYFNGQDCQPCHRFCATCAGAGAD
                     GCINCTEGYFMEDGRCVQSCSISYYFDHSSENGYKSCKKCDISCLTCNGPGFKNCTSC
                     PSGYLLDLGMCQMGAICKDATEESWAEGGFCMLVKKNNLCQRKVLQQLCCKTCTFQG"
     sig_peptide     478..573
                     /gene="PCSK5"
     mat_peptide     820..3216
                     /gene="PCSK5"
                     /product="proprotein convertase subtilisin/kexin type 5"
     misc_feature    850..1821
                     /gene="PCSK5"
                     /note="Region: pfam00082, Peptidase_S8, Subtilase family.
                     Subtilases are a family of serine proteases. They appear
                     to have independently and convergently evolved an
                     Asp/Ser/His catalytic triad, like that found in the
                     trypsin serine proteases (see pfam00089). Structure is an
                     alpha/beta fold containing a 7-stranded parallel beta
                     sheet, order 2314567"
     misc_feature    1861..2277
                     /gene="PCSK5"
                     /note="Region: pfam01483, P, Proprotein convertase
                     P-domain. A unique feature of the eukaryotic
                     subtilisin-like proprotein convertases is the presence of
                     an additional highly conserved sequence of approximately
                     150 residues (P domain) located immediately downstream of
                     the catalytic domain"
     misc_feature    2377..3003
                     /gene="PCSK5"
                     /note="Region: pfam00757, Furin-like, Furin-like cysteine
                     rich region"
     misc_feature    2380..2517
                     /gene="PCSK5"
                     /note="Region: smart00261, FU, Furin-like repeats"
     misc_feature    2383..3057
                     /gene="PCSK5"
                     /note="Region: pfam03302, VSP, Giardia variant-specific
                     surface protein"
     misc_feature    2518..2835
                     /gene="PCSK5"
                     /note="Region: pfam03302, VSP, Giardia variant-specific
                     surface protein"
     misc_feature    2524..2664
                     /gene="PCSK5"
                     /note="Region: smart00261, FU, Furin-like repeats"
     misc_feature    2587..3072
                     /gene="PCSK5"
                     /note="Region: pfam03302, VSP, Giardia variant-specific
                     surface protein"
     misc_feature    2677..2805
                     /gene="PCSK5"
                     /note="Region: smart00261, FU, Furin-like repeats"
     misc_feature    2974..3078
                     /gene="PCSK5"
                     /note="Region: smart00261, FU, Furin-like repeats"
     misc_feature    574..3216
                     /gene="PCSK5"
                     /note="proprotein convertase subtilisin/kexin type 5
                     proprotein"
     variation       complement(1962)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2297342"
BASE COUNT      828 a    872 c    940 g    659 t
ORIGIN      
        1 cggagggagc gctgggagcg agcaagcgag cgtttggagc ccgggccagc agagggggcg
       61 cccggtcgct gcctgtaccg ctcccgctgg tcatctccgc cgcgctcggg ggccccggga
      121 ggagcgagac cgagtcggag agtccgggag ccaagccggg cgaaacccaa ctgcggagga
      181 cgcccgcccc actcagcctc ctcctgcgtc cgagccgggg agcatcgccg agcgccccac
      241 gggccggaga gctgggagca caggtcccgg cagccccagg gatggtctag gagccggcgt
      301 aaggctcgct gctctgctcc ctgccggggc tagccgcctc ctgccgatcg cccggggctg
      361 cgagctgcgg cggcccgggg ctgctcgccg ggcggcgcag gccggagaag ttagttgtgc
      421 gcgcccttag tgcgcggaac cagccagcga gcgagggagc agcgaggcgc cgggaccatg
      481 ggctggggga gccgctgctg ctgcccggga cgtttggacc tgctgtgcgt gctggcgctg
      541 ctcgggggct gcctgctccc cgtgtgtcgg acgcgcgtct acaccaacca ctgggcagtc
      601 aaaatcgccg ggggcttccc ggaggccaac cgtatcgcca gcaagtacgg attcatcaac
      661 ataggacaga taggggccct gaaggactac taccacttct accatagcag gacgattaaa
      721 aggtcagtta tctcgagcag agggacccac agtttcattt caatggaacc aaaggtggaa
      781 tggatccaac agcaagtggt aaaaaagcgg acaaagaggg attatgactt cagtcgtgcc
      841 cagtctacct atttcaatga tcccaagtgg cccagcatgt ggtatatgca ctgcagtgac
      901 aatacacatc cctgccagtc tgacatgaat atcgaaggag cctggaagag aggctacacg
      961 ggaaagaaca ttgtggtcac tatcctggat gacggaattg agagaaccca tccagatctg
     1021 atgcaaaact acgatgctct ggcaagttgc gacgtgaatg ggaatgactt ggacccaatg
     1081 cctcgttatg atgcaagcaa cgagaacaag catgggactc gctgtgctgg agaagtggca
     1141 gccgctgcaa acaattcgca ctgcacagtc ggaattgctt tcaacgccaa gatcggagga
     1201 gtgcgaatgc tggacggaga tgtcacggac atggttgaag caaaatcagt tagcttcaac
     1261 ccccagcacg tgcacattta cagcgccagc tggggcccgg atgatgatgg caagactgtg
     1321 gacggaccag cccccctcac ccggcaagcc tttgaaaacg gcgttagaat ggggcggaga
     1381 ggcctcggct ctgtgtttgt ttgggcatct ggaaatggtg gaaggagcaa agaccactgc
     1441 tcctgtgatg gctacaccaa cagcatctac accatctcca tcagcagcac tgcagaaagc
     1501 ggaaagaaac cttggtacct ggaagagtgt tcatccacgc tggccacaac ctacagcagc
     1561 ggggagtcct acgataagaa aatcatcact acagatctga ggcagcgttg cacggacaac
     1621 cacactggga cgtcagcctc agcccccatg gctgcaggca tcattgcgct ggccctggaa
     1681 gccaatccgt ttctgacctg gagagacgta cagcatgtta ttgtcaggac ttcccgtgcg
     1741 ggacatttga acgctaatga ctggaaaacc aatgctgctg gttttaaggt gagccatctt
     1801 tatggatttg gactgatgga cgcagaagcc atggtgatgg aggcagagaa gtggaccacc
     1861 gttccccggc agcacgtgtg tgtggagagc acagaccgac aaatcaagac aatccgccct
     1921 aacagtgcag tgcgctccat ctacaaagct tcaggctgct cggataaccc caaccgccat
     1981 gtcaactacc tggagcacgt cgttgtgcgc atcaccatca cccaccccag gagaggagac
     2041 ctggccatct acctgacctc gccctctgga actaggtctc agcttttggc caacaggcta
     2101 tttgatcact ccatggaagg attcaaaaac tgggagttca tgaccattca ttgctgggga
     2161 gaaagagctg ctggtgactg ggtccttgaa gtttatgata ctccctctca gctaaggaac
     2221 tttaagactc caggtaaatt gaaagaatgg tctttggtcc tctacggcac ctccgtgcag
     2281 ccatattcac caaccaatga atttccgaaa gtggaacggt tccgctatag ccgagttgaa
     2341 gaccccacag acgactatgg cacagaggat tatgcaggtc cctgcgaccc tgagtgcagt
     2401 gaggttggct gtgacgggcc aggaccagac cactgcaatg actgtttgca ctactactac
     2461 aagctgaaaa acaataccag gatctgtgtc tccagctgcc cccctggcca ctaccacgcc
     2521 gacaagaagc gctgcaggaa gtgtgccccc aactgtgagt cctgctttgg gagccatggt
     2581 gaccaatgca tgtcctgcaa atatggatac tttctgaatg aagaaaccaa cagctgtgtt
     2641 actcactgcc ctgatgggtc atatcaggat accaagaaaa atctttgccg gaaatgcagt
     2701 gaaaactgca agacatgtac tgaattccat aactgtacag aatgtaggga tgggttaagc
     2761 ctgcagggat cccggtgctc tgtctcctgt gaagatggac ggtatttcaa cggccaggac
     2821 tgccagccct gccaccgctt ctgcgccact tgtgctgggg caggagctga tgggtgcatt
     2881 aactgcacag agggctactt catggaggat gggagatgcg tgcagagctg tagtatcagc
     2941 tattactttg accactcttc agagaatgga tacaaatcct gcaaaaaatg tgatatcagt
     3001 tgtttgacgt gcaatggccc aggattcaag aactgtacaa gctgccctag tgggtatctc
     3061 ttagacttag gaatgtgtca aatgggagcc atttgcaagg atgcaacgga agagtcctgg
     3121 gcggaaggag gcttctgtat gcttgtgaaa aagaacaatc tgtgccaacg gaaggttctt
     3181 caacaacttt gctgcaaaac atgtacattt caaggctgag cagccatctt agatttcttt
     3241 gttcctgtag acttatagat tattccatat tattaaaaag aaaaaaaaaa gccaaaaag
//



Revised: July 5, 2002.
 
 


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1: NM_006273. Homo sapiens chem...[gi:13435401] Links  


LOCUS       CCL7                     810 bp    mRNA    linear   PRI 30-AUG-2002
DEFINITION  Homo sapiens chemokine (C-C motif) ligand 7 (CCL7), mRNA.
ACCESSION   NM_006273
VERSION     NM_006273.2  GI:13435401
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 810)
  AUTHORS   Van Damme,J., Proost,P., Lenaerts,J.P. and Opdenakker,G.
  TITLE     Structural and functional identification of two human,
            tumor-derived monocyte chemotactic proteins (MCP-2 and MCP-3)
            belonging to the chemokine family
  JOURNAL   J. Exp. Med. 176 (1), 59-65 (1992)
  MEDLINE   92308855
   PUBMED   1613466
REFERENCE   2  (bases 1 to 810)
  AUTHORS   Minty,A., Chalon,P., Guillemot,J.C., Kaghad,M., Liauzun,P.,
            Magazin,M., Miloux,B., Minty,C., Ramond,P., Vita,N., Lupker,J.,
            Shire,D., Ferrara,P. and Caput,D.
  TITLE     Molecular cloning of the MCP-3 chemokine gene and regulation of its
            expression
  JOURNAL   Eur. Cytokine Netw. 4 (2), 99-110 (1993)
  MEDLINE   93305913
   PUBMED   8318676
REFERENCE   3  (bases 1 to 810)
  AUTHORS   Opdenakker,G., Froyen,G., Fiten,P., Proost,P. and Van Damme,J.
  TITLE     Human monocyte chemotactic protein-3 (MCP-3): molecular cloning of
            the cDNA and comparison with other chemokines
  JOURNAL   Biochem. Biophys. Res. Commun. 191 (2), 535-542 (1993)
  MEDLINE   93213290
   PUBMED   8461011
REFERENCE   4  (bases 1 to 810)
  AUTHORS   Opdenakker,G., Fiten,P., Nys,G., Froyen,G., Van Roy,N.,
            Speleman,F., Laureys,G. and Van Damme,J.
  TITLE     The human MCP-3 gene (SCYA7): cloning, sequence analysis, and
            assignment to the C-C chemokine gene cluster on chromosome
            17q11.2-q12
  JOURNAL   Genomics 21 (2), 403-408 (1994)
  MEDLINE   94375065
   PUBMED   7916328
REFERENCE   5  (bases 1 to 810)
  AUTHORS   Kim,K.S., Rajarathnam,K., Clark-Lewis,I. and Sykes,B.D.
  TITLE     Structural characterization of a monomeric chemokine: monocyte
            chemoattractant protein-3
  JOURNAL   FEBS Lett. 395 (2-3), 277-282 (1996)
  MEDLINE   97053697
   PUBMED   8898111
REFERENCE   6  (bases 1 to 810)
  AUTHORS   Meunier,S., Bernassau,J.M., Guillemot,J.C., Ferrara,P. and
            Darbon,H.
  TITLE     Determination of the three-dimensional structure of CC chemokine
            monocyte chemoattractant protein 3 by 1H two-dimensional NMR
            spectroscopy
  JOURNAL   Biochemistry (N.Y.) 36 (15), 4412-4422 (1997)
  MEDLINE   97263733
   PUBMED   9109648
REFERENCE   7  (bases 1 to 810)
  AUTHORS   Wang,J.M., Ueda,H., Howard,O.M., Grimm,M.C., Chertov,O., Gong,X.,
            Gong,W., Resau,J.H., Broder,C.C., Evans,G., Arthur,L.O.,
            Ruscetti,F.W. and Oppenheim,J.J.
  TITLE     HIV-1 envelope gp120 inhibits the monocyte response to chemokines
            through CD4 signal-dependent chemokine receptor down-regulation
  JOURNAL   J. Immunol. 161 (8), 4309-4317 (1998)
  MEDLINE   98451487
   PUBMED   9780207
REFERENCE   8  (bases 1 to 810)
  AUTHORS   Rabin,R.L., Park,M.K., Liao,F., Swofford,R., Stephany,D. and
            Farber,J.M.
  TITLE     Chemokine receptor responses on T cells are achieved through
            regulation of both receptor expression and signaling
  JOURNAL   J. Immunol. 162 (7), 3840-3850 (1999)
  MEDLINE   99218399
   PUBMED   10201901
REFERENCE   9  (bases 1 to 810)
  AUTHORS   Mirzadegan,T., Diehl,F., Ebi,B., Bhakta,S., Polsky,I., McCarley,D.,
            Mulkins,M., Weatherhead,G.S., Lapierre,J.M., Dankwardt,J.,
            Morgans,D. Jr., Wilhelm,R. and Jarnagin,K.
  TITLE     Identification of the binding site for a novel class of CCR2b
            chemokine receptor antagonists: binding to a common chemokine
            receptor motif within the helical bundle
  JOURNAL   J. Biol. Chem. 275 (33), 25562-25571 (2000)
  MEDLINE   20400491
   PUBMED   10770925
REFERENCE   10 (bases 1 to 810)
  AUTHORS   McQuibban,G.A., Gong,J.H., Tam,E.M., McCulloch,C.A., Clark-Lewis,I.
            and Overall,C.M.
  TITLE     Inflammation dampened by gelatinase A cleavage of monocyte
            chemoattractant protein-3
  JOURNAL   Science 289 (5482), 1202-1206 (2000)
  MEDLINE   20407467
   PUBMED   10947989
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X71087.1.
            On Mar 23, 2001 this sequence version replaced gi:10835243.
            Summary: This gene encodes monocyte chemotactic protein 3, a
            secreted chemokine which attracts macrophages during inflammation
            and metastasis. It is a member of the C-C subfamily of chemokines
            which are characterized by having two adjacent cysteine residues.
            The protein is an in vivo substrate of matrix metalloproteinase 2,
            an enzyme which degrades components of the extracellular matrix.
            This gene is part of a cluster of C-C chemokine family members on
            chromosome 17q.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..810
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2-q12"
     gene            1..810
                     /gene="CCL7"
                     /note="MCP3; NC28; SCYA7"
                     /db_xref="LocusID:6354"
                     /db_xref="MIM:158106"
     variation       complement(35)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3744509"
     CDS             71..370
                     /gene="CCL7"
                     /note="monocyte chemoattractant protein 3"
                     /codon_start=1
                     /product="small inducible cytokine A7 precursor"
                     /protein_id="NP_006264.2"
                     /db_xref="GI:13435402"
                     /db_xref="LocusID:6354"
                     /db_xref="MIM:158106"
                     /translation="MKASAALLCLLLTAAAFSPQGLAQPVGINTSTTCCYRFINKKIP
                     KQRLESYRRTTSSHCPREAVIFKTKLDKEICADPTQKWVQDFMKHLDKKTQTPKL"
     sig_peptide     71..139
                     /gene="CCL7"
     mat_peptide     140..367
                     /gene="CCL7"
                     /product="small inducible cytokine A7"
     misc_feature    140..340
                     /gene="CCL7"
                     /note="Region: pfam00048, IL8, Small cytokines
                     (intecrine/chemokine), interleukin-8 like. Includes a
                     number of secreted growth factors and interferons involved
                     in mitogenic, chemotactic, and inflammatory activity.
                     Structure contains two highly conserved disulfide bonds"
     misc_feature    161..340
                     /gene="CCL7"
                     /note="Region: smart00199, SCY, Intercrine alpha family
                     (small cytokine C-X-C) (chemokine CXC); Family of
                     cytokines involved in cell-specific chemotaxis, mediation
                     of cell growth, and the inflammatory response"
     misc_feature    548..552
                     /gene="CCL7"
                     /note="ATTTA motif"
     polyA_signal    787..792
                     /gene="CCL7"
     polyA_site      804
                     /gene="CCL7"
BASE COUNT      248 a    169 c    155 g    238 t
ORIGIN      
        1 agcagagggg ctgagaccaa accagaaacc tccaattctc atgtggaagc ccatgccctc
       61 accctccaac atgaaagcct ctgcagcact tctgtgtctg ctgctcacag cagctgcttt
      121 cagcccccag gggcttgctc agccagttgg gattaatact tcaactacct gctgctacag
      181 atttatcaat aagaaaatcc ctaagcagag gctggagagc tacagaagga ccaccagtag
      241 ccactgtccc cgggaagctg taatcttcaa gaccaaactg gacaaggaga tctgtgctga
      301 ccccacacag aagtgggtcc aggactttat gaagcacctg gacaagaaaa cccaaactcc
      361 aaagctttga acattcatga ctgaactaaa aacaagccat gacttgagaa acaaataatt
      421 tgtataccct gtcctttctc agagtggttc tgagattatt ttaatctaat tctaaggaat
      481 atgagcttta tgtaataatg tgaatcatgg tttttcttag tagattttaa aagttattaa
      541 tattttaatt taatcttcca tggattttgg tgggttttga acataaagcc ttggatgtat
      601 atgtcatctc agtgctgtaa aaactgtggg atgctcctcc cttctctacc tcatgggggt
      661 attgtataag tccttgcaag aatcagtgca aagatttgct ttaattgtta agatatgatg
      721 tccctatgga agcatattgt tattatataa ttacatattt gcatatgtat gactcccaaa
      781 ttttcacata aaatagattt ttgtaaaaaa 
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

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1: NM_002984. Homo sapiens smal...[gi:4506844] Links  


LOCUS       SCYA4                    696 bp    mRNA    linear   PRI 26-JAN-2002
DEFINITION  Homo sapiens small inducible cytokine A4 (SCYA4), mRNA.
ACCESSION   NM_002984
VERSION     NM_002984.1  GI:4506844
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 696)
  AUTHORS   Lipes,M.A., Napolitano,M., Jeang,K.T., Chang,N.T. and Leonard,W.J.
  TITLE     Identification, cloning, and characterization of an immune
            activation gene
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 85 (24), 9704-9708 (1988)
  MEDLINE   89071764
   PUBMED   2462251
REFERENCE   2  (bases 1 to 696)
  AUTHORS   Brown,K.D., Zurawski,S.M., Mosmann,T.R. and Zurawski,G.
  TITLE     A family of small inducible proteins secreted by leukocytes are
            members of a new superfamily that includes leukocyte and
            fibroblast-derived inflammatory agents, growth factors, and
            indicators of various activation processes
  JOURNAL   J. Immunol. 142 (2), 679-687 (1989)
  MEDLINE   89093958
   PUBMED   2521353
REFERENCE   3  (bases 1 to 696)
  AUTHORS   Zipfel,P.F., Balke,J., Irving,S.G., Kelly,K. and Siebenlist,U.
  TITLE     Mitogenic activation of human T cells induces two closely related
            genes which share structural similarities with a new family of
            secreted factors
  JOURNAL   J. Immunol. 142 (5), 1582-1590 (1989)
  MEDLINE   89140347
   PUBMED   2521882
REFERENCE   4  (bases 1 to 696)
  AUTHORS   Chang,H.C. and Reinherz,E.L.
  TITLE     Isolation and characterization of a cDNA encoding a putative
            cytokine which is induced by stimulation via the CD2 structure on
            human T lymphocytes
  JOURNAL   Eur. J. Immunol. 19 (6), 1045-1051 (1989)
  MEDLINE   89325421
   PUBMED   2568930
REFERENCE   5  (bases 1 to 696)
  AUTHORS   Irving,S.G., Zipfel,P.F., Balke,J., McBride,O.W., Morton,C.C.,
            Burd,P.R., Siebenlist,U. and Kelly,K.
  TITLE     Two inflammatory mediator cytokine genes are closely linked and
            variably amplified on chromosome 17q
  JOURNAL   Nucleic Acids Res. 18 (11), 3261-3270 (1990)
  MEDLINE   90287702
   PUBMED   1972563
REFERENCE   6  (bases 1 to 696)
  AUTHORS   Baixeras,E., Roman-Roman,S., Jitsukawa,S., Genevee,C., Mechiche,S.,
            Viegas-Pequignot,E., Hercend,T. and Triebel,F.
  TITLE     Cloning and expression of a lymphocyte activation gene (LAG-1)
  JOURNAL   Mol. Immunol. 27 (11), 1091-1102 (1990)
  MEDLINE   91061800
   PUBMED   2247088
REFERENCE   7  (bases 1 to 696)
  AUTHORS   Rubbert,A., Combadiere,C., Ostrowski,M., Arthos,J., Dybul,M.,
            Machado,E., Cohn,M.A., Hoxie,J.A., Murphy,P.M., Fauci,A.S. and
            Weissman,D.
  TITLE     Dendritic cells express multiple chemokine receptors used as
            coreceptors for HIV entry
  JOURNAL   J. Immunol. 160 (8), 3933-3941 (1998)
  MEDLINE   98217183
   PUBMED   9558100
REFERENCE   8  (bases 1 to 696)
  AUTHORS   Zaitseva,M.B., Lee,S., Rabin,R.L., Tiffany,H.L., Farber,J.M.,
            Peden,K.W., Murphy,P.M. and Golding,H.
  TITLE     CXCR4 and CCR5 on human thymocytes: biological function and role in
            HIV-1 infection
  JOURNAL   J. Immunol. 161 (6), 3103-3113 (1998)
  MEDLINE   98414309
   PUBMED   9743377
REFERENCE   9  (bases 1 to 696)
  AUTHORS   Nieto,M., Navarro,F., Perez-Villar,J.J., del Pozo,M.A.,
            Gonzalez-Amaro,R., Mellado,M., Frade,J.M., Martinez-A,C.,
            Lopez-Botet,M. and Sanchez-Madrid,F.
  TITLE     Roles of chemokines and receptor polarization in NK-target cell
            interactions
  JOURNAL   J. Immunol. 161 (7), 3330-3339 (1998)
  MEDLINE   98430649
   PUBMED   9759849
REFERENCE   10 (bases 1 to 696)
  AUTHORS   Rahimpour,R., Mitchell,G., Khandaker,M.H., Kong,C., Singh,B.,
            Xu,L., Ochi,A., Feldman,R.D., Pickering,J.G., Gill,B.M. and
            Kelvin,D.J.
  TITLE     Bacterial superantigens induce down-modulation of CC chemokine
            responsiveness in human monocytes via an alternative chemokine
            ligand-independent mechanism
  JOURNAL   J. Immunol. 162 (4), 2299-2307 (1999)
  MEDLINE   99138930
   PUBMED   9973507
REFERENCE   11 (bases 1 to 696)
  AUTHORS   Kokkotou,E.G., Sankale,J.L., Mani,I., Gueye-Ndiaye,A., Schwartz,D.,
            Essex,M.E., Mboup,S. and Kanki,P.J.
  TITLE     In vitro correlates of HIV-2-mediated HIV-1 protection
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 97 (12), 6797-6802 (2000)
  MEDLINE   20300981
   PUBMED   10841574
REFERENCE   12 (bases 1 to 696)
  AUTHORS   Ariel,A., Lider,O., Brill,A., Cahalon,L., Savion,N., Varon,D. and
            Hershkoviz,R.
  TITLE     Induction of interactions between CD44 and hyaluronic acid by a
            short exposure of human T cells to diverse pro-inflammatory
            mediators
  JOURNAL   Immunology 100 (3), 345-351 (2000)
  MEDLINE   20387643
   PUBMED   10929056
REFERENCE   13 (bases 1 to 696)
  AUTHORS   Modi,W.S., Bergeron,J. and Sanford,M.
  TITLE     The human MIP-1beta chemokine is encoded by two paralogous genes,
            ACT-2 and LAG-1
  JOURNAL   Immunogenetics 53 (7), 543-549 (2001)
  MEDLINE   21541404
   PUBMED   11685466
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from J04130.1.
FEATURES             Location/Qualifiers
     source          1..696
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..696
                     /gene="SCYA4"
                     /note="LAG1; MIP-1-BETA; ACT2; Act-2; AT744.1"
                     /db_xref="LocusID:6351"
                     /db_xref="MIM:182284"
     variation       complement(73)
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:2277660"
     variation       97
                     /gene="SCYA4"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1049750"
     CDS             109..387
                     /gene="SCYA4"
                     /note="lymphocyte-activation gene 1; small inducible
                     cytokine A4 (homologous to mouse Mip-1b)"
                     /codon_start=1
                     /product="small inducible cytokine A4"
                     /protein_id="NP_002975.1"
                     /db_xref="GI:4506845"
                     /db_xref="LocusID:6351"
                     /db_xref="MIM:182284"
                     /translation="MKLCVTVLSLLMLVAAFCSPALSAPMGSDPPTACCFSYTARKLP
                     RNFVVDYYETSSLCSQPAVVFQTKRSKQVCADPSESWVQEYVYDLELN"
     sig_peptide     109..177
                     /gene="SCYA4"
                     /note="act-2 protein signal peptide"
     mat_peptide     178..384
                     /gene="SCYA4"
                     /product="act-2 protein"
     misc_feature    178..375
                     /gene="SCYA4"
                     /note="IL8; Region: Small cytokines (intecrine/chemokine),
                     interleukin-8 like"
                     /db_xref="CDD:pfam00048"
     misc_feature    199..375
                     /gene="SCYA4"
                     /note="SCY; Region: Intercrine alpha family (small
                     cytokine C-X-C) (chemokine CXC)."
                     /db_xref="CDD:smart00199"
     variation       142
                     /gene="SCYA4"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1049752"
     variation       167
                     /gene="SCYA4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3189963"
     variation       167
                     /gene="SCYA4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1130750"
     variation       171
                     /gene="SCYA4"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1130755"
     variation       171
                     /gene="SCYA4"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3189965"
     variation       complement(242)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3744595"
     variation       275
                     /gene="SCYA4"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3210001"
     variation       316
                     /gene="SCYA4"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3189978"
     variation       316
                     /gene="SCYA4"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1130760"
     variation       330
                     /gene="SCYA4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3189979"
     variation       330
                     /gene="SCYA4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1049804"
     variation       336
                     /gene="SCYA4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3189980"
     variation       336
                     /gene="SCYA4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1049805"
     variation       431
                     /gene="SCYA4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1049811"
     variation       449
                     /gene="SCYA4"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1049813"
     variation       451
                     /gene="SCYA4"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1049815"
     variation       493
                     /gene="SCYA4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1049819"
     variation       505
                     /gene="SCYA4"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1049821"
     variation       512
                     /gene="SCYA4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1049823"
     variation       523
                     /gene="SCYA4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1049824"
     variation       526
                     /gene="SCYA4"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1049826"
     variation       543
                     /gene="SCYA4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1049828"
     variation       603
                     /gene="SCYA4"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1049833"
     variation       609
                     /gene="SCYA4"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1049834"
     variation       642
                     /gene="SCYA4"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1049837"
     variation       645
                     /gene="SCYA4"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1049838"
     variation       651
                     /gene="SCYA4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1049839"
     variation       652
                     /gene="SCYA4"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1049840"
BASE COUNT      157 a    203 c    139 g    197 t
ORIGIN      
        1 ttcccccccc cccccccccc ccccgcccga gcacaggaca cagctgggtt ctgaagcttc
       61 tgagttctgc agcctcacct ctgagaaaac ctcttttcca ccaataccat gaagctctgc
      121 gtgactgtcc tgtctctcct catgctagta gctgccttct gctctccagc gctctcagca
      181 ccaatgggct cagaccctcc caccgcctgc tgcttttctt acaccgcgag gaagcttcct
      241 cgcaactttg tggtagatta ctatgagacc agcagcctct gctcccagcc agctgtggta
      301 ttccaaacca aaagaagcaa gcaagtctgt gctgatccca gtgaatcctg ggtccaggag
      361 tacgtgtatg acctggaact gaactgagct gctcagagac aggaagtctt cagggaaggt
      421 cacctgagcc cggatgcttc tccatgagac acatctcctc catactcagg actcctctcc
      481 gcagttcctg tcccttctct taatttaatc ttttttatgt gccgtgttat tgtattaggt
      541 gtcatttcca ttatttatat tagtttagcc aaaggataag tgtcctatgg ggatggtcca
      601 ctgtcactgt ttctctgctg ttgcaaatac atggataaca catttgattc tgtgtgtttt
      661 ccataataaa actttaaaat aaaatgcaga cagtta
//



Revised: July 5, 2002.
 
 


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Oct 21 2002 11:56:56 

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1: NM_005565. Homo sapiens lymp...[gi:7382491] Links  


LOCUS       LCP2                    1984 bp    mRNA    linear   PRI 07-SEP-2002
DEFINITION  Homo sapiens lymphocyte cytosolic protein 2 (SH2 domain containing
            leukocyte protein of 76kDa) (LCP2), mRNA.
ACCESSION   NM_005565
VERSION     NM_005565.2  GI:7382491
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1984)
  AUTHORS   Jackman,J.K., Motto,D.G., Sun,Q., Tanemoto,M., Turck,C.W.,
            Peltz,G.A., Koretzky,G.A. and Findell,P.R.
  TITLE     Molecular cloning of SLP-76, a 76-kDa tyrosine phosphoprotein
            associated with Grb2 in T cells
  JOURNAL   J. Biol. Chem. 270 (13), 7029-7032 (1995)
  MEDLINE   95221345
   PUBMED   7706237
REFERENCE   2  (bases 1 to 1984)
  AUTHORS   Motto,D.G., Ross,S.E., Wu,J., Hendricks-Taylor,L.R. and
            Koretzky,G.A.
  TITLE     Implication of the GRB2-associated phosphoprotein SLP-76 in T cell
            receptor-mediated interleukin 2 production
  JOURNAL   J. Exp. Med. 183 (4), 1937-1943 (1996)
  MEDLINE   96298954
   PUBMED   8666952
REFERENCE   3  (bases 1 to 1984)
  AUTHORS   Sunden,S.L., Carr,L.L., Clements,J.L., Motto,D.G. and Koretzky,G.A.
  TITLE     Polymorphism in and localization of the gene LCP2 (SLP-76) to
            chromosome 5q33.1-qter
  JOURNAL   Genomics 35 (1), 269-270 (1996)
  MEDLINE   96299772
   PUBMED   8661136
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U20158.1.
            On Apr 1, 2000 this sequence version replaced gi:5031854.
            Summary: SLP-76 was originally identified as a substrate of the
            ZAP-70 protein tyrosine kinase following T cell receptor (TCR)
            ligation in the leukemic T cell line Jurkat. The SLP-76 locus has
            been localized to human chromosome 5q33 and the gene structure has
            been partially characterized in mice. The human and murine cDNAs
            both encode 533 amino acid proteins that are 72% identical and
            comprised of three modular domains. The NH2-terminus contains an
            acidic region that includes a PEST domain and several tyrosine
            residues which are phosphorylated following TCR ligation. SLP-76
            also contains a central proline-rich domain and a COOH-terminal SH2
            domain. A number of additional proteins have been identified that
            associate with SLP-76 both constitutively and inducibly following
            receptor ligation, supporting the notion that SLP-76 functions as
            an adaptor or scaffold protein. Studies using SLP-76 deficient T
            cell lines or mice have provided strong evidence that SLP-76 plays
            a positive role in promoting T cell development and activation as
            well as mast cell and platelet function [PROW].
FEATURES             Location/Qualifiers
     source          1..1984
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.1-qter"
     gene            1..1984
                     /gene="LCP2"
                     /note="SLP76; SLP-76"
                     /db_xref="LocusID:3937"
                     /db_xref="MIM:601603"
     misc_signal     202..210
                     /gene="LCP2"
                     /note="Kozak sequence"
     CDS             208..1809
                     /gene="LCP2"
                     /note="SH2 domain-containing leukocyte protein of 76kD; 76
                     kDa tyrosine phosphoprotein; lymphocyte cytosolic protein
                     2 (SH2 domain containing leukocyte protein of 76kD)"
                     /codon_start=1
                     /product="lymphocyte cytosolic protein 2"
                     /protein_id="NP_005556.1"
                     /db_xref="GI:5031855"
                     /db_xref="LocusID:3937"
                     /db_xref="MIM:601603"
                     /translation="MALRNVPFRSEVLGWDPDSLADYFKKLNYKDCEKAVKKYHIDGA
                     RFLNLTENDIQKFPKLRVPILSKLSQEINKNEERRSIFTRKPQVPRFPEETESHEEDN
                     GGWSSFEEDDYESPNDDQDGEDDGDYESPNEEEEAPVEDDADYEPPPSNDEEALQNSI
                     LPAKPFPNSNSMYIDRPPSGKTPQQPPVPPQRPMAALPPPPAGRNHSPLPPPQTNHEE
                     PSRSRNHKTAKLPAPSIDRSTKPPLDRSLAPFDREPFTLGKKPPFSDKPSIPAGRSLG
                     EHLPKIQKPPLPPTTERHERSSPLPGKKPPVPKHGWGPDRRENDEDDVHQRPLPQPAL
                     LPMSSNTFPSRSTKPSPMNPLPSSHMPGAFSESNSSFPQSASLPPYFSQGPSNRPPIR
                     AEGRNFPLPLPNKPRPPSPAEEENSLNEEWYVSYITRPEAEAALRKINQDGTFLVRDS
                     SKKTTTNPYVLMVLYKDKVYNIQIRYQKESQVYLLGTGLRGKEDFLSVSDIIDYFRKM
                     PLLLIDGKNRGSRYQCTLTHAAGYP"
     misc_feature    241..429
                     /gene="LCP2"
                     /note="Region: smart00454, SAM, Sterile alpha motif;
                     Widespread domain in signalling and nuclear proteins. In
                     EPH-related tyrosine kinases, appears to mediate cell-cell
                     initiated signal transduction via the binding of
                     SH2-containing proteins to a conserved tyrosine that is
                     phosphorylated. In many cases mediates homodimerisation"
     misc_feature    1465..1737
                     /gene="LCP2"
                     /note="Region: smart00252, SH2, Src homology 2 domains;
                     Src homology 2 domains bind phosphotyrosine-containing
                     polypeptides via 2 surface pockets. Specificity is
                     provided via interaction with residues that are distinct
                     from the phosphotyrosine. Only a single occurrence of a
                     SH2 domain has been found in S. cerevisiae"
     misc_feature    1471..1749
                     /gene="LCP2"
                     /note="Region: encodes src homology 2 domain"
     misc_feature    1471..1722
                     /gene="LCP2"
                     /note="Region: pfam00017, SH2, SH2 domain"
     variation       771
                     /gene="LCP2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2292254"
     variation       998
                     /gene="LCP2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1126888"
     variation       998
                     /gene="LCP2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3182216"
     variation       1816
                     /gene="LCP2"
                     /allele="-"
                     /allele="A"
                     /db_xref="dbSNP:3830455"
     polyA_signal    1961..1967
                     /gene="LCP2"
     polyA_site      1984
                     /gene="LCP2"
BASE COUNT      571 a    567 c    455 g    391 t
ORIGIN      
        1 gaagagacca tatttgttcg cagaggaagc cgttgctttc tgggatctgg ctacggcaga
       61 aaagacatcg gctccaacag gggtgttcca cagggtagct gggagttgga agagccaaga
      121 acgcctccga gctctggatt tgagcttctc tgcccatggg tgaagcgccc atgctcagct
      181 tgtgagcttc ttcccgggag agcagccatg gcactgagga atgtgccctt tcgctcagag
      241 gtcctgggct gggaccccga cagccttgct gactatttca agaagctcaa ctataaggac
      301 tgtgagaagg cagtgaagaa gtaccacatc gatggggctc gcttcttgaa cctgacagaa
      361 aatgacatcc agaagttccc caagctccgg gtgccgattc tcagtaagtt aagtcaggaa
      421 atcaacaaga acgaagagag gaggagcatc ttcacacgca aaccccaagt cccgcggttt
      481 cctgaagaga cagaaagcca cgaagaggac aatgggggtt ggtcgtcctt tgaagaagac
      541 gattatgaaa gtcccaatga tgaccaggat ggggaggatg atggagacta tgagtccccc
      601 aatgaggagg aagaggcacc cgtggaagat gacgcggatt atgagccgcc accctccaat
      661 gacgaggaag ctctgcagaa ctccatcctg cctgccaagc ctttccccaa ctccaactcc
      721 atgtacatcg accggccccc ctctgggaaa accccccagc agcctcctgt gcccccccag
      781 agaccgatgg ccgccctccc gcccccacca gccggccgga atcactcgcc actgccccca
      841 ccccagacca accacgaaga acccagcaga agcagaaacc acaaaacggc aaagctccct
      901 gctccttcaa tagacagaag cacgaaacct cccctagatc gttcattagc tccgtttgat
      961 agagaaccct tcacactagg aaagaaacca ccattttctg acaagccctc gattccagcg
     1021 ggaaggtcac tcggggagca tttacccaag attcaaaagc ctcctttacc accgaccacg
     1081 gaaagacatg aaaggagcag ccccctgcca gggaagaagc cacctgtgcc aaagcatgga
     1141 tggggaccag acagaagaga gaatgatgaa gatgatgtgc atcagagacc tttgccccag
     1201 ccagcactac ttcctatgag ctccaacact ttcccttcaa gatctactaa gccaagtccc
     1261 atgaaccctc tcccatcctc tcacatgcct ggagcattct cagaaagtaa cagcagtttt
     1321 ccacagagtg cctccctgcc accatacttc tctcaaggcc ctagcaacag accacctatc
     1381 agagccgaag gcagaaactt ccccttgcca cttccaaaca aacctcggcc cccatccccc
     1441 gcggaggaag agaattcatt aaatgaagag tggtacgttt cttatattac ccgaccagag
     1501 gcagaagctg ctcttagaaa gataaaccag gatggcacat ttctggtcag agacagctct
     1561 aaaaaaacaa caaccaatcc atatgtcctc atggtgttgt acaaagataa agtttacaac
     1621 atccagatcc gttatcagaa ggaaagtcaa gtttacttgt tgggaactgg actccgaggg
     1681 aaagaggact ttctgtctgt gtcagatatt attgactact tcaggaaaat gccacttctg
     1741 ctcattgatg ggaaaaaccg aggttccaga taccagtgca cattaacgca tgctgcaggg
     1801 tacccatagc aagttatagc cgagcaaatg aaccgtcctc ctgcctctgt tgccaacacg
     1861 agatcaatca gccttggtca atggacaaac acttaggact gaactgaacc cctccccatg
     1921 aacacaaggg ttttatcctt tcctttaaaa acagtgtttg aaatgaagac tgtcaactat
     1981 cccc
//



Revised: July 5, 2002.
 
 


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1: NM_000579. Homo sapiens chem...[gi:4502638] Links  


LOCUS       CCR5                    3655 bp    mRNA    linear   PRI 02-MAY-2001
DEFINITION  Homo sapiens chemokine (C-C motif) receptor 5 (CCR5), mRNA.
ACCESSION   NM_000579
VERSION     NM_000579.1  GI:4502638
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3655)
  AUTHORS   Samson,M., Labbe,O., Mollereau,C., Vassart,G. and Parmentier,M.
  TITLE     Molecular cloning and functional expression of a new human
            CC-chemokine receptor gene
  JOURNAL   Biochemistry 35 (11), 3362-3367 (1996)
  MEDLINE   96241590
   PUBMED   8639485
REFERENCE   2  (bases 1 to 3655)
  AUTHORS   Deng,H., Liu,R., Ellmeier,W., Choe,S., Unutmaz,D., Burkhart,M., Di
            Marzio,P., Marmon,S., Sutton,R.E., Hill,C.M., Davis,C.B.,
            Peiper,S.C., Schall,T.J., Littman,D.R. and Landau,N.R.
  TITLE     Identification of a major co-receptor for primary isolates of HIV-1
  JOURNAL   Nature 381 (6584), 661-666 (1996)
  MEDLINE   96260017
   PUBMED   8649511
REFERENCE   3  (bases 1 to 3655)
  AUTHORS   Choe,H., Farzan,M., Sun,Y., Sullivan,N., Rollins,B., Ponath,P.D.,
            Wu,L., Mackay,C.R., LaRosa,G., Newman,W., Gerard,N., Gerard,C. and
            Sodroski,J.
  TITLE     The beta-chemokine receptors CCR3 and CCR5 facilitate infection by
            primary HIV-1 isolates
  JOURNAL   Cell 85 (7), 1135-1148 (1996)
  MEDLINE   96270515
   PUBMED   8674119
REFERENCE   4  (bases 1 to 3655)
  AUTHORS   Raport,C.J., Gosling,J., Schweickart,V.L., Gray,P.W. and Charo,I.F.
  TITLE     Molecular cloning and functional characterization of a novel human
            CC chemokine receptor (CCR5) for RANTES, MIP-1beta, and MIP-1alpha
  JOURNAL   J. Biol. Chem. 271 (29), 17161-17166 (1996)
  MEDLINE   96291862
   PUBMED   8663314
REFERENCE   5  (bases 1 to 3655)
  AUTHORS   Combadiere,C., Ahuja,S.K., Tiffany,H.L. and Murphy,P.M.
  TITLE     Cloning and functional expression of CC CKR5, a human monocyte CC
            chemokine receptor selective for MIP-1(alpha), MIP-1(beta), and
            RANTES
  JOURNAL   J. Leukoc. Biol. 60 (1), 147-152 (1996)
  MEDLINE   96295970
   PUBMED   8699119
REFERENCE   6  (bases 1 to 3655)
  AUTHORS   Daugherty,B.L. and Springer,M.S.
  TITLE     The beta-chemokine receptor genes CCR1 (CMKBR1), CCR2 (CMKBR2), and
            CCR3 (CMKBR3) cluster within 285 kb on human chromosome 3p21
  JOURNAL   Genomics 41 (2), 294-295 (1997)
  MEDLINE   97288534
   PUBMED   9143512
REFERENCE   7  (bases 1 to 3655)
  AUTHORS   Kuhmann,S.E., Platt,E.J., Kozak,S.L. and Kabat,D.
  TITLE     Polymorphisms in the CCR5 genes of African green monkeys and mice
            implicate specific amino acids in infections by simian and human
            immunodeficiency viruses
  JOURNAL   J. Virol. 71 (11), 8642-8656 (1997)
  MEDLINE   98001387
   PUBMED   9343222
REFERENCE   8  (bases 1 to 3655)
  AUTHORS   Mummidi,S., Ahuja,S.S., McDaniel,B.L. and Ahuja,S.K.
  TITLE     The human CC chemokine receptor 5 (CCR5) gene. Multiple transcripts
            with 5'-end heterogeneity, dual promoter usage, and evidence for
            polymorphisms within the regulatory regions and noncoding exons
  JOURNAL   J. Biol. Chem. 272 (49), 30662-30671 (1997)
  MEDLINE   98049523
   PUBMED   9388201
REFERENCE   9  (bases 1 to 3655)
  AUTHORS   Maho,A., Bensimon,A., Vassart,G. and Parmentier,M.
  TITLE     Mapping of the CCXCR1, CX3CR1, CCBP2 and CCR9 genes to the CCR
            cluster within the 3p21.3 region of the human genome
  JOURNAL   Cytogenet. Cell Genet. 87 (3-4), 265-268 (1999)
  MEDLINE   20169206
   PUBMED   10702689
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF031237.1.
            Summary: This gene encodes a member of the beta chemokine receptor
            family, which is predicted to be a seven transmembrane protein
            similar to G protein-coupled receptors. This protein is expressed
            by T cells and macrophages, and is known to be an important
            co-receptor for macrophage-tropic virus, including HIV, to enter
            host cells. Defective alleles of this gene have been associated
            with the HIV infection resistance. The ligands of this receptor
            include monocyte chemoattractant protein 2 (MCP-2), macrophage
            inflammatory protein 1 alpha (MIP-1 alpha), macrophage inflammatory
            protein 1 beta (MIP-1 beta) and regulated on activation normal T
            expressed and secreted protein (RANTES). Expression of this gene
            was also detected in a promyeloblastic cell line, suggesting that
            this protein may play a role in granulocyte lineage proliferation
            and differentiation. This gene is located at the chemokine receptor
            gene cluster region.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3655
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21"
     gene            1..3655
                     /gene="CCR5"
                     /note="CCCKR5; CC-CKR-5; CKR-5; CMKBR5; CKR5; CKR-5"
                     /db_xref="LocusID:1234"
                     /db_xref="MIM:601373"
     variation       126
                     /gene="CCR5"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3762825"
     variation       140
                     /gene="CCR5"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3087249"
     variation       175
                     /gene="CCR5"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3762826"
     variation       235
                     /gene="CCR5"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3087250"
     CDS             358..1416
                     /gene="CCR5"
                     /note="chemokine (C-C) receptor 5; HIV-1 fusion
                     co-receptor; chemr13"
                     /codon_start=1
                     /product="chemokine (C-C motif) receptor 5"
                     /protein_id="NP_000570.1"
                     /db_xref="GI:4502639"
                     /db_xref="LocusID:1234"
                     /db_xref="MIM:601373"
                     /translation="MDYQVSSPIYDINYYTSEPCQKINVKQIAARLLPPLYSLVFIFG
                     FVGNMLVILILINCKRLKSMTDIYLLNLAISDLFFLLTVPFWAHYAAAQWDFGNTMCQ
                     LLTGLYFIGFFSGIFFIILLTIDRYLAVVHAVFALKARTVTFGVVTSVITWVVAVFAS
                     LPGIIFTRSQKEGLHYTCSSHFPYSQYQFWKNFQTLKIVILGLVLPLLVMVICYSGIL
                     KTLLRCRNEKKRHRAVRLIFTIMIVYFLFWAPYNIVLLLNTFQEFFGLNNCSSSNRLD
                     QAMQVTETLGMTHCCINPIIYAFVGEKFRNYLLVFFQKHIAKRFCKCCSIFQQEAPER
                     ASSVYTRSTGEQEISVGL"
     misc_feature    496..1248
                     /gene="CCR5"
                     /note="7tm_1; Region: 7 transmembrane receptor (rhodopsin
                     family)"
                     /db_xref="CDD:pfam00001"
     variation       521
                     /gene="CCR5"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1799863"
     variation       660
                     /gene="CCR5"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1800560"
     variation       1025
                     /gene="CCR5"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1800452"
     variation       1395
                     /gene="CCR5"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2157060"
     variation       2434
                     /gene="CCR5"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1800874"
     variation       2815
                     /gene="CCR5"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3188094"
     variation       2929
                     /gene="CCR5"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1048115"
     variation       complement(3276)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:746492"
     polyA_signal    3638..3643
                     /gene="CCR5"
     polyA_site      3654
                     /gene="CCR5"
BASE COUNT     1033 a    751 c    872 g    999 t
ORIGIN      
        1 cttcagatag attatatctg gagtgaagga tcctgccacc tacgtatctg gcatagtatt
       61 ctgtgtagtg ggatgagcag agaacaaaaa caaaataatc cagtgagaaa agcccgtaaa
      121 taaaccttca gaccagagat ctattctcca gcttatttta agctcaactt aaaaagaaga
      181 actgttctct gattcttttc gccttcaata cacttaatga tttaactcca ccctccttca
      241 aaagaaacag catttcctac ttttatactg tctatatgat tgatttgcac agctcatctg
      301 gccagaagag ctgagacatc cgttccccta caagaaactc tccccgggtg gaacaagatg
      361 gattatcaag tgtcaagtcc aatctatgac atcaattatt atacatcgga gccctgccaa
      421 aaaatcaatg tgaagcaaat cgcagcccgc ctcctgcctc cgctctactc actggtgttc
      481 atctttggtt ttgtgggcaa catgctggtc atcctcatcc tgataaactg caaaaggctg
      541 aagagcatga ctgacatcta cctgctcaac ctggccatct ctgacctgtt tttccttctt
      601 actgtcccct tctgggctca ctatgctgcc gcccagtggg actttggaaa tacaatgtgt
      661 caactcttga cagggctcta ttttataggc ttcttctctg gaatcttctt catcatcctc
      721 ctgacaatcg ataggtacct ggctgtcgtc catgctgtgt ttgctttaaa agccaggacg
      781 gtcacctttg gggtggtgac aagtgtgatc acttgggtgg tggctgtgtt tgcgtctctc
      841 ccaggaatca tctttaccag atctcaaaaa gaaggtcttc attacacctg cagctctcat
      901 tttccataca gtcagtatca attctggaag aatttccaga cattaaagat agtcatcttg
      961 gggctggtcc tgccgctgct tgtcatggtc atctgctact cgggaatcct aaaaactctg
     1021 cttcggtgtc gaaatgagaa gaagaggcac agggctgtga ggcttatctt caccatcatg
     1081 attgtttatt ttctcttctg ggctccctac aacattgtcc ttctcctgaa caccttccag
     1141 gaattctttg gcctgaataa ttgcagtagc tctaacaggt tggaccaagc tatgcaggtg
     1201 acagagactc ttgggatgac gcactgctgc atcaacccca tcatctatgc ctttgtcggg
     1261 gagaagttca gaaactacct cttagtcttc ttccaaaagc acattgccaa acgcttctgc
     1321 aaatgctgtt ctattttcca gcaagaggct cccgagcgag caagctcagt ttacacccga
     1381 tccactgggg agcaggaaat atctgtgggc ttgtgacacg gactcaagtg ggctggtgac
     1441 ccagtcagag ttgtgcacat ggcttagttt tcatacacag cctgggctgg gggtggggtg
     1501 ggagaggtct tttttaaaag gaagttactg ttatagaggg tctaagattc atccatttat
     1561 ttggcatctg tttaaagtag attagatctt ttaagcccat caattataga aagccaaatc
     1621 aaaatatgtt gatgaaaaat agcaaccttt ttatctcccc ttcacatgca tcaagttatt
     1681 gacaaactct cccttcactc cgaaagttcc ttatgtatat ttaaaagaaa gcctcagaga
     1741 attgctgatt cttgagttta gtgatctgaa cagaaatacc aaaattattt cagaaatgta
     1801 caacttttta cctagtacaa ggcaacatat aggttgtaaa tgtgtttaaa acaggtcttt
     1861 gtcttgctat ggggagaaaa gacatgaata tgattagtaa agaaatgaca cttttcatgt
     1921 gtgatttccc ctccaaggta tggttaataa gtttcactga cttagaacca ggcgagagac
     1981 ttgtggcctg ggagagctgg ggaagcttct taaatgagaa ggaatttgag ttggatcatc
     2041 tattgctggc aaagacagaa gcctcactgc aagcactgca tgggcaagct tggctgtaga
     2101 aggagacaga gctggttggg aagacatggg gaggaaggac aaggctagat catgaagaac
     2161 cttgacggca ttgctccgtc taagtcatga gctgagcagg gagatcctgg ttggtgttgc
     2221 agaaggttta ctctgtggcc aaaggagggt caggaaggat gagcatttag ggcaaggaga
     2281 ccaccaacag ccctcaggtc agggtgagga tggcctctgc taagctcaag gcgtgaggat
     2341 gggaaggagg gaggtattcg taaggatggg aaggagggag gtattcgtgc agcatatgag
     2401 gatgcagagt cagcagaact ggggtggatt tggtttggaa gtgagggtca gagaggagtc
     2461 agagagaatc cctagtcttc aagcagattg gagaaaccct tgaaaagaca tcaagcacag
     2521 aaggaggagg aggaggttta ggtcaagaag aagatggatt ggtgtaaaag gatgggtctg
     2581 gtttgcagag cttgaacaca gtctcaccca gactccaggc tgtctttcac tgaatgcttc
     2641 tgacttcata gatttccttc ccatcccagc tgaaatactg aggggtctcc aggaggagac
     2701 tagatttatg aatacacgag gtatgaggtc taggaacata cttcagctca cacatgagat
     2761 ctaggtgagg attgattacc tagtagtcat ttcatgggtt gttgggagga ttctatgagg
     2821 caaccacagg cagcatttag cacatactac acattcaata agcatcaaac tcttagttac
     2881 tcattcaggg atagcactga gcaaagcatt gagcaaaggg gtcccatata ggtgagggaa
     2941 gcctgaaaaa ctaagatgct gcctgcccag tgcacacaag tgtaggtatc attttctgca
     3001 tttaaccgtc aataggcaaa ggggggaagg gacatattca tttggaaata agctgccttg
     3061 agccttaaaa cccacaaaag tacaatttac cagcctccgt atttcagact gaatgggggt
     3121 ggggggggcg ccttaggtac ttattccaga tgccttctcc agacaaacca gaagcaacag
     3181 aaaaaatcgt ctctccctcc ctttgaaatg aatatacccc ttagtgtttg ggtatattca
     3241 tttcaaaggg agagagagag gtttttttct gttctttctc atatgattgt gcacatactt
     3301 gagactgttt tgaatttggg ggatggctaa aaccatcata gtacaggtaa ggtgagggaa
     3361 tagtaagtgg tgagaactac tcagggaatg aaggtgtcag aataataaga ggtgctactg
     3421 actttctcag cctctgaata tgaacggtga gcattgtggc tgtcagcagg aagcaacgaa
     3481 gggaaatgtc tttccttttg ctcttaagtt gtggagagtg caacagtagc ataggaccct
     3541 accctctggg ccaagtcaaa gacattctga catcttagta tttgcatatt cttatgtatg
     3601 tgaaagttac aaattgcttg aaagaaaata tgcatctaat aaaaaacacc ttcta
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&


    
 
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   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene  for        
 
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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_005178. Homo sapiens B-ce...[gi:20336471] Links  


LOCUS       BCL3                    1813 bp    mRNA    linear   PRI 31-JUL-2002
DEFINITION  Homo sapiens B-cell CLL/lymphoma 3 (BCL3), mRNA.
ACCESSION   NM_005178
VERSION     NM_005178.2  GI:20336471
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1813)
  AUTHORS   Ohno,H., Takimoto,G. and McKeithan,T.W.
  TITLE     The candidate proto-oncogene bcl-3 is related to genes implicated
            in cell lineage determination and cell cycle control
  JOURNAL   Cell 60 (6), 991-997 (1990)
  MEDLINE   90199880
   PUBMED   2180580
REFERENCE   2  (bases 1 to 1813)
  AUTHORS   Wulczyn,F.G., Naumann,M. and Scheidereit,C.
  TITLE     Candidate proto-oncogene bcl-3 encodes a subunit-specific inhibitor
            of transcription factor NF-kappa B
  JOURNAL   Nature 358 (6387), 597-599 (1992)
  MEDLINE   92365824
   PUBMED   1501714
REFERENCE   3  (bases 1 to 1813)
  AUTHORS   Franzoso,G., Bours,V., Park,S., Tomita-Yamaguchi,M., Kelly,K. and
            Siebenlist,U.
  TITLE     The candidate oncoprotein Bcl-3 is an antagonist of p50/NF-kappa
            B-mediated inhibition
  JOURNAL   Nature 359 (6393), 339-342 (1992)
  MEDLINE   93024882
   PUBMED   1406939
REFERENCE   4  (bases 1 to 1813)
  AUTHORS   Naumann,M., Wulczyn,F.G. and Scheidereit,C.
  TITLE     The NF-kappa B precursor p105 and the proto-oncogene product Bcl-3
            are I kappa B molecules and control nuclear translocation of
            NF-kappa B
  JOURNAL   EMBO J. 12 (1), 213-222 (1993)
  MEDLINE   93154323
   PUBMED   8428580
REFERENCE   5  (bases 1 to 1813)
  AUTHORS   Bours,V., Franzoso,G., Azarenko,V., Park,S., Kanno,T., Brown,K. and
            Siebenlist,U.
  TITLE     The oncoprotein Bcl-3 directly transactivates through kappa B
            motifs via association with DNA-binding p50B homodimers
  JOURNAL   Cell 72 (5), 729-739 (1993)
  MEDLINE   93201596
   PUBMED   8453667
REFERENCE   6  (bases 1 to 1813)
  AUTHORS   Fujita,T., Nolan,G.P., Liou,H.C., Scott,M.L. and Baltimore,D.
  TITLE     The candidate proto-oncogene bcl-3 encodes a transcriptional
            coactivator that activates through NF-kappa B p50 homodimers
  JOURNAL   Genes Dev. 7 (7B), 1354-1363 (1993)
  MEDLINE   93321864
   PUBMED   8330739
REFERENCE   7  (bases 1 to 1813)
  AUTHORS   McKeithan,T.W., Ohno,H., Dickstein,J. and Hume,E.
  TITLE     Genomic structure of the candidate proto-oncogene BCL3
  JOURNAL   Genomics 24 (1), 120-126 (1994)
  MEDLINE   95203866
   PUBMED   7896265
REFERENCE   8  (bases 1 to 1813)
  AUTHORS   Watanabe,N., Iwamura,T., Shinoda,T. and Fujita,T.
  TITLE     Regulation of NFKB1 proteins by the candidate oncoprotein BCL-3:
            generation of NF-kappaB homodimers from the cytoplasmic pool of
            p50-p105 and nuclear translocation
  JOURNAL   EMBO J. 16 (12), 3609-3620 (1997)
  MEDLINE   97361841
   PUBMED   9218802
REFERENCE   9  (bases 1 to 1813)
  AUTHORS   Bundy,D.L. and McKeithan,T.W.
  TITLE     Diverse effects of BCL3 phosphorylation on its modulation of
            NF-kappaB p52 homodimer binding to DNA
  JOURNAL   J. Biol. Chem. 272 (52), 33132-33139 (1997)
  MEDLINE   98070516
   PUBMED   9407099
REFERENCE   10 (bases 1 to 1813)
  AUTHORS   Brasier,A.R., Lu,M., Hai,T., Lu,Y. and Boldogh,I.
  TITLE     NF-kappa B-inducible BCL-3 expression is an autoregulatory loop
            controlling nuclear p50/NF-kappa B1 residence
  JOURNAL   J. Biol. Chem. 276 (34), 32080-32093 (2001)
  MEDLINE   21402875
   PUBMED   11387332
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M31732.1.
            On Apr 28, 2002 this sequence version replaced gi:4885086.
            Summary: This gene is a proto-oncogene candidate. It is identified
            by its translocation into the immunoglobulin alpha-locus in some
            cases of B-cell leukemia. The protein encoded by this gene contains
            seven ankyrin repeats, which are most closely related to those
            found in I kappa B proteins. This protein functions as a
            transcriptional co-activator that activates through its association
            with NF-kappa B homodimers. The expression of this gene can be
            induced by NF-kappa B, which forms a part of the autoregulatory
            loop that controls the nuclear residence of p50 NF-kappa B.
FEATURES             Location/Qualifiers
     source          1..1813
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.1-q13.2"
     gene            1..1813
                     /gene="BCL3"
                     /note="BCL4"
                     /db_xref="LocusID:602"
                     /db_xref="MIM:109560"
     CDS             42..1382
                     /gene="BCL3"
                     /note="B-cell lymphoma 3-encoded protein; B-cell
                     leukemia/lymphoma 3; chronic lymphatic leukemia protein"
                     /codon_start=1
                     /product="B-cell CLL/lymphoma 3"
                     /protein_id="NP_005169.1"
                     /db_xref="GI:4885087"
                     /db_xref="LocusID:602"
                     /db_xref="MIM:109560"
                     /translation="MDEGPVDLRTRPKAAGLPGAALPLRKRPLRAPSPEPAAPRGAAG
                     LVVPLDPLRGGCDLPAVPGPPHGLARPEALYYPGALLPLYPTRAMGSPFPLVNLPTPL
                     YPMMCPMEHPLSADIAMATRADEDGDTPLHIAVVQGNLPAVHRLVNLFQQGGRELDIY
                     NNLRQTPLHLAVITTLPSVVRLLVTAGASPMALDRHGQTAAHLACEHRSPTCLRALLD
                     SAAPGTLDLEARNYDGLTALHVAVNTECQETVQLLLERGADIDAVDIKSGRSPLIHAV
                     ENNSLSMVQLLLQHGANVNAQMYSGSSALHSASGRGLLPLVRTLVRSGADSSLKNCHN
                     DTPLMVARSRRVIDILRGKATRPASTSQPDPSPDRSANTSPESSSRLSSNGLLSASPS
                     SSPSQSPPRDPPGFPMAPPNFFLPSPSPPAFLPFAGVLRGPGRPVPPSPAPGGS"
     misc_feature    534..626
                     /gene="BCL3"
                     /note="Region: pfam00023, ank, Ankyrin repeat. Ankyrin
                     repeats generally consist of a beta, alpha, alpha, beta
                     order of secondary structures. The repeats associate to
                     form a higher order structure"
     misc_feature    738..833
                     /gene="BCL3"
                     /note="Region: pfam00023, ank, Ankyrin repeat. Ankyrin
                     repeats generally consist of a beta, alpha, alpha, beta
                     order of secondary structures. The repeats associate to
                     form a higher order structure"
     misc_feature    738..827
                     /gene="BCL3"
                     /note="Region: smart00248, ANK, ankyrin repeats; Ankyrin
                     repeats are about 33 amino acids long and occur in at
                     least four consecutive copies. They are involved in
                     protein-protein interactions. The core of the repeat seems
                     to be an helix-loop-helix structure"
     misc_feature    843..932
                     /gene="BCL3"
                     /note="Region: pfam00023, ank, Ankyrin repeat. Ankyrin
                     repeats generally consist of a beta, alpha, alpha, beta
                     order of secondary structures. The repeats associate to
                     form a higher order structure"
     misc_feature    843..929
                     /gene="BCL3"
                     /note="Region: smart00248, ANK, ankyrin repeats; Ankyrin
                     repeats are about 33 amino acids long and occur in at
                     least four consecutive copies. They are involved in
                     protein-protein interactions. The core of the repeat seems
                     to be an helix-loop-helix structure"
     variation       1433
                     /gene="BCL3"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1046880"
     variation       1435
                     /gene="BCL3"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1046881"
     variation       1468
                     /gene="BCL3"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1129219"
     variation       1553
                     /gene="BCL3"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1046883"
     variation       1556
                     /gene="BCL3"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1046885"
     polyA_signal    1793..1798
                     /gene="BCL3"
     polyA_site      1813
                     /gene="BCL3"
                     /evidence=experimental
BASE COUNT      301 a    712 c    486 g    314 t
ORIGIN      
        1 ccgtccccgg cggccccatg ccccgatgcc ccgcgggggc catggacgag gggcccgtgg
       61 acctgcgcac ccggcccaag gccgccggac tcccgggcgc cgcgctgccg ctccgcaagc
      121 gcccgctgcg cgcgccctcc ccggagcccg ccgctccccg cggcgctgcg ggccttgtcg
      181 tccccctgga ccctctgcgc ggcggctgcg acctgccggc ggtccccggg cccccccacg
      241 gcctggcccg gccggaggcg ctttactacc ccggagcctt actgcctttg taccccactc
      301 gggccatggg ctccccgttt cctctggtga acctgcctac acccctatac cccatgatgt
      361 gccccatgga acaccccctt tctgctgaca tcgccatggc cacccgtgca gatgaggacg
      421 gagacacgcc tctccatatt gctgtggtgc agggtaacct gccagctgtg caccggctgg
      481 tcaacctctt ccagcagggg ggccgggagc tcgacatcta caacaaccta cggcagacac
      541 cgctccacct ggctgtgatc accacattac cgtctgtggt ccggctcctg gtgacagctg
      601 gtgccagccc catggcgctg gaccgccatg gccagacggc cgctcacctg gcgtgcgagc
      661 accgcagccc gacctgcctg cgagccctgc tggacagcgc agctccgggc acgttggacc
      721 tggaggcccg caattatgac gggctcaccg ccctgcacgt ggcagtgaac accgagtgcc
      781 aagaaaccgt gcagctcttg ctagagcgcg gtgccgacat cgacgcagtg gacattaaga
      841 gcggccgctc cccgctcatc cacgccgtgg aaaacaacag ccttagcatg gtgcagctgc
      901 tgctgcagca cggcgccaac gtgaacgcgc aaatgtactc cggcagctcc gccctgcact
      961 cagcgtccgg ccgcgggctc ctcccgctgg tgcgcacgct ggtccgcagc ggcgctgaca
     1021 gcagcctcaa gaactgccac aacgacacgc cgctcatggt ggcgcgcagc cgcagggtca
     1081 tcgacatcct gagggggaag gccacccggc ctgcttccac ctcccagcca gacccctccc
     1141 ctgaccggag cgccaacacc tcccccgaga gcagcagccg cctcagctcc aatggtcttc
     1201 tctccgcatc accatcctcc tcaccctccc agtctccccc cagggacccc cctggattcc
     1261 ccatggctcc tcccaatttc ttccttcctt ccccatctcc acccgccttc ctgccctttg
     1321 ctggggtcct ccgaggccct ggccggccgg tgcccccctc cccagctcca ggaggcagct
     1381 gagggggatg ggggggcaga tcttggactc atgaggaggg gcccccctgc ccagaggggt
     1441 caacccttct ggaaactgtg aagatctgac ttcgcccccc ccccccccca tcttcgggac
     1501 caggatttgc acagaagcac atgcacctac ccatacaccc cctcttctga gcacagatgt
     1561 tcccccatct cgctccctcc caggactctg accccagcat tctcaggcac cagtccctgt
     1621 ccggaatgcc acccacatct tccatttcca tgtcccctcc cagagctggt ggacccaggg
     1681 aacagccact cccctccact ctctaccaga taactgagga ggggagaggt gggccgtaac
     1741 gggcacggat cacgatgtaa attattaagc attttggttg gatttctttt gtaataaact
     1801 atttttgtac cat
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_000095. Homo sapiens cart...[gi:4557482] Links  


LOCUS       COMP                    2439 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens cartilage oligomeric matrix protein
            (pseudoachondroplasia, epiphyseal dysplasia 1, multiple) (COMP),
            mRNA.
ACCESSION   NM_000095
VERSION     NM_000095.1  GI:4557482
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2439)
  AUTHORS   Briggs,M.D., Rasmussen,I.M., Weber,J.L., Yuen,J., Reinker,K.,
            Garber,A.P., Rimoin,D.L. and Cohn,D.H.
  TITLE     Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in
            the pericentromeric region of chromosome 19
  JOURNAL   Genomics 18 (3), 656-660 (1993)
  MEDLINE   94140366
   PUBMED   8307576
REFERENCE   2  (bases 1 to 2439)
  AUTHORS   Oehlmann,R., Summerville,G.P., Yeh,G., Weaver,E.J., Jimenez,S.A.
            and Knowlton,R.G.
  TITLE     Genetic linkage mapping of multiple epiphyseal dysplasia to the
            pericentromeric region of chromosome 19
  JOURNAL   Am. J. Hum. Genet. 54 (1), 3-10 (1994)
  MEDLINE   94106516
   PUBMED   8279467
REFERENCE   3  (bases 1 to 2439)
  AUTHORS   Newton,G., Weremowicz,S., Morton,C.C., Copeland,N.G., Gilbert,D.J.,
            Jenkins,N.A. and Lawler,J.
  TITLE     Characterization of human and mouse cartilage oligomeric matrix
            protein
  JOURNAL   Genomics 24 (3), 435-439 (1994)
  MEDLINE   95229140
   PUBMED   7713493
REFERENCE   4  (bases 1 to 2439)
  AUTHORS   Briggs MD, Hoffman SM, King LM, Olsen AS, Mohrenweiser H, Leroy JG,
            Mortier GR, Rimoin DL, Lachman RS, Gaines ES et al.
  TITLE     Pseudoachondroplasia and multiple epiphyseal dysplasia due to
            mutations in the cartilage oligomeric matrix protein gene
  JOURNAL   Nat. Genet. 10 (3), 330-336 (1995)
  MEDLINE   95400302
   PUBMED   7670472
REFERENCE   5  (bases 1 to 2439)
  AUTHORS   Ballo,R., Briggs,M.D., Cohn,D.H., Knowlton,R.G., Beighton,P.H. and
            Ramesar,R.S.
  TITLE     Multiple epiphyseal dysplasia, ribbing type: a novel point mutation
            in the COMP gene in a South African family
  JOURNAL   Am. J. Med. Genet. 68 (4), 396-400 (1997)
  MEDLINE   97173141
   PUBMED   9021009
REFERENCE   6  (bases 1 to 2439)
  AUTHORS   Briggs,M.D., Mortier,G.R., Cole,W.G., King,L.M., Golik,S.S.,
            Bonaventure,J., Nuytinck,L., De Paepe,A., Leroy,J.G., Biesecker,L.,
            Lipson,M., Wilcox,W.R., Lachman,R.S., Rimoin,D.L., Knowlton,R.G.
            and Cohn,D.H.
  TITLE     Diverse mutations in the gene for cartilage oligomeric matrix
            protein in the pseudoachondroplasia-multiple epiphyseal dysplasia
            disease spectrum
  JOURNAL   Am. J. Hum. Genet. 62 (2), 311-319 (1998)
  MEDLINE   98130533
   PUBMED   9463320
REFERENCE   7  (bases 1 to 2439)
  AUTHORS   Rosenberg,K., Olsson,H., Morgelin,M. and Heinegard,D.
  TITLE     Cartilage oligomeric matrix protein shows high affinity
            zinc-dependent interaction with triple helical collagen
  JOURNAL   J. Biol. Chem. 273 (32), 20397-20403 (1998)
  MEDLINE   98352080
   PUBMED   9685393
REFERENCE   8  (bases 1 to 2439)
  AUTHORS   Hecht,J.T., Deere,M., Putnam,E., Cole,W., Vertel,B., Chen,H. and
            Lawler,J.
  TITLE     Characterization of cartilage oligomeric matrix protein (COMP) in
            human normal and pseudoachondroplasia musculoskeletal tissues
  JOURNAL   Matrix Biol. 17 (4), 269-278 (1998)
  MEDLINE   98420391
   PUBMED   9749943
REFERENCE   9  (bases 1 to 2439)
  AUTHORS   Delot,E., King,L.M., Briggs,M.D., Wilcox,W.R. and Cohn,D.H.
  TITLE     Trinucleotide expansion mutations in the cartilage oligomeric
            matrix protein (COMP) gene
  JOURNAL   Hum. Mol. Genet. 8 (1), 123-128 (1999)
  MEDLINE   99105925
   PUBMED   9887340
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from L32137.1.
            Summary: Cartilage oligomeric matrix protein (COMP) is a
            noncollagenous extracellular matrix (ECM) protein. It consists of
            five identical glycoprotein subunits, each with EGF-like and
            calcium-binding (thrombospondin-like) domains. Oligomerization
            results from formation of a five-stranded coiled coil and
            disulfides.  COMP contains an RGD sequence although its functional
            significance is uncertain.  Binding to other ECM proteins such as
            collagen appears to depend on divalent cations.  Mutations can
            cause the osteochondrodysplasias pseudochondroplasia (PSACH) and
            multiple epiphyseal dysplasia (MED).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2439
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.1"
     gene            1..2439
                     /gene="COMP"
                     /note="EDM1; MED; PSACH; EPD1"
                     /db_xref="LocusID:1311"
                     /db_xref="MIM:600310"
     CDS             26..2299
                     /gene="COMP"
                     /note="pseudoachondroplasia (epiphyseal dysplasia 1,
                     multiple); cartilage oligomeric matrix
                     protein(pseudoachondroplasia, epiphyseal dysplasia 1,
                     multiple); epiphyseal dysplasia, multiple 1"
                     /codon_start=1
                     /product="cartilage oligomeric matrix protein presursor"
                     /protein_id="NP_000086.1"
                     /db_xref="GI:4557483"
                     /db_xref="LocusID:1311"
                     /db_xref="MIM:600310"
                     /translation="MVPDTACVLLLTLAALGASGQGQSPLGSDLGPQMLRELQETNAA
                     LQDVRDWLRQQVREITFLKNTVMECDACGMQQSVRTGLPSVRPLLHCAPGFCFPGVAC
                     IQTESGGRCGPCPAGFTGNGSHCTDVNECNAHPCFPRVRCINTSPGFRCEACPPGYSG
                     PTHQGVGLAFAKANKQVCTDINECETGQHNCVPNSVCINTRGSFQCGPCQPGFVGDQA
                     SGCQRGAQRFCPDGSPSECHEHADCVLERDGSRSCVCRVGWAGNGILCGRDTDLDGFP
                     DEKLRCPEPQCRKDNCVTVPNSGQEDVDRDGIGDACDPDADGDGVPNEKDNCPLVRNP
                     DQRNTDEDKWGDACDNCRSQKNDDQKDTDQDGRGDACDDDIDGDRIRNQADNCPRVPN
                     SDQKDSDGDGIGDACDNCPQKSNPDQADVDHDFVGDACDSDQDQDGDGHQDSRDNCPT
                     VPNSAQEDSDHDGQGDACDDDDDNDGVPDSRDNCRLVPNPGQEDADRDGVGDVCQDDF
                     DADKVVDKIDVCPENAEVTLTDFRAFQTVVLDPEGDAQIDPNWVVLNQGREIVQTMNS
                     DPGLAVGYTAFNGVDFEGTFHVNTVTDDDYAGFIFGYQDSSSFYVVMWKQMEQTYWQA
                     NPFRAVAEPGIQLKAVKSSTGPGEQLRNALWHTGDTESQVRLLWKDPRNVGWKDKKSY
                     RWFLQHRPQVGYIRVRFYEGPELVADSNVVLDTTMRGGRLGVFCFSQENIIWANLRYR
                     CNDTIPEDYETHQLRQA"
     sig_peptide     26..85
                     /gene="COMP"
     mat_peptide     86..2296
                     /gene="COMP"
                     /product="cartilage oligomeric matrix protein mature
                     peptide"
     repeat_region   290..892
                     /note="putative"
                     /rpt_family="thrombospondin type 2"
                     /rpt_type=tandem
     repeat_region   893..1577
                     /note="putative"
                     /rpt_family="thrombospondin type 3"
                     /rpt_type=tandem
     variation       2390
                     /gene="COMP"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:9407"
     polyA_signal    2420..2425
                     /gene="COMP"
     polyA_site      2439
                     /gene="COMP"
BASE COUNT      503 a    758 c    809 g    369 t
ORIGIN      
        1 cagcacccag ctccccgcca ccgccatggt ccccgacacc gcctgcgttc ttctgctcac
       61 cctggctgcc ctcggcgcgt ccggacaggg ccagagcccg ttgggctcag acctgggccc
      121 gcagatgctt cgggaactgc aggaaaccaa cgcggcgctg caggacgtgc gggactggct
      181 gcggcagcag gtcagggaga tcacgttcct gaaaaacacg gtgatggagt gtgacgcgtg
      241 cgggatgcag cagtcagtac gcaccggcct acccagcgtg cggcccctgc tccactgcgc
      301 gcccggcttc tgcttccccg gcgtggcctg catccagacg gagagcggcg gccgctgcgg
      361 cccctgcccc gcgggcttca cgggcaacgg ctcgcactgc accgacgtca acgagtgcaa
      421 cgcccacccc tgcttccccc gagtccgctg tatcaacacc agcccggggt tccgctgcga
      481 ggcttgcccg ccggggtaca gcggccccac ccaccagggc gtggggctgg ctttcgccaa
      541 ggccaacaag caggtttgca cggacatcaa cgagtgtgag accgggcaac ataactgcgt
      601 ccccaactcc gtgtgcatca acacccgggg ctccttccag tgcggcccgt gccagcccgg
      661 cttcgtgggc gaccaggcgt ccggctgcca gcgcggcgca cagcgcttct gccccgacgg
      721 ctcgcccagc gagtgccacg agcatgcaga ctgcgtccta gagcgcgatg gctcgcggtc
      781 gtgcgtgtgt cgcgttggct gggccggcaa cgggatcctc tgtggtcgcg acactgacct
      841 agacggcttc ccggacgaga agctgcgctg cccggagccg cagtgccgta aggacaactg
      901 cgtgactgtg cccaactcag ggcaggagga tgtggaccgc gatggcatcg gagacgcctg
      961 cgatccggat gccgacgggg acggggtccc caatgaaaag gacaactgcc cgctggtgcg
     1021 gaacccagac cagcgcaaca cggacgagga caagtggggc gatgcgtgcg acaactgccg
     1081 gtcccagaag aacgacgacc aaaaggacac agaccaggac ggccggggcg atgcgtgcga
     1141 cgacgacatc gacggcgacc ggatccgcaa ccaggccgac aactgcccta gggtacccaa
     1201 ctcagaccag aaggacagtg atggcgatgg tataggggat gcctgtgaca actgtcccca
     1261 gaagagcaac ccggatcagg cggatgtgga ccacgacttt gtgggagatg cttgtgacag
     1321 cgatcaagac caggatggag acggacatca ggactctcgg gacaactgtc ccacggtgcc
     1381 taacagtgcc caggaggact cagaccacga tggccagggt gatgcctgcg acgacgacga
     1441 cgacaatgac ggagtccctg acagtcggga caactgccgc ctggtgccta accccggcca
     1501 ggaggacgcg gacagggacg gcgtgggcga cgtgtgccag gacgactttg atgcagacaa
     1561 ggtggtagac aagatcgacg tgtgtccgga gaacgctgaa gtcacgctca ccgacttcag
     1621 ggccttccag acagtcgtgc tggacccgga gggtgacgcg cagattgacc ccaactgggt
     1681 ggtgctcaac cagggaaggg agatcgtgca gacaatgaac agcgacccag gcctggctgt
     1741 gggttacact gccttcaatg gcgtggactt cgagggcacg ttccatgtga acacggtcac
     1801 ggatgacgac tatgcgggct tcatctttgg ctaccaggac agctccagct tctacgtggt
     1861 catgtggaag cagatggagc aaacgtattg gcaggcgaac cccttccgtg ctgtggccga
     1921 gcctggcatc caactcaagg ctgtgaagtc ttccacaggc cccggggaac agctgcggaa
     1981 cgctctgtgg catacaggag acacagagtc ccaggtgcgg ctgctgtgga aggacccgcg
     2041 aaacgtgggt tggaaggaca agaagtccta tcgttggttc ctgcagcacc ggccccaagt
     2101 gggctacatc agggtgcgat tctatgaggg ccctgagctg gtggccgaca gcaacgtggt
     2161 cttggacaca accatgcggg gtggccgcct gggggtcttc tgcttctccc aggagaacat
     2221 catctgggcc aacctgcgtt accgctgcaa tgacaccatc ccagaggact atgagaccca
     2281 tcagctgcgg caagcctagg gaccagggtg aggacccgcc ggatgacagc caccctcacc
     2341 gcggctggat gggggctctg cacccagccc aaggggtggc cgtcctgagg gggaagtgag
     2401 aagggctcag agaggacaaa ataaagtgtg tgtgcaggg
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&


    
 
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   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_000478. Homo sapiens alka...[gi:13787192] Links  


LOCUS       ALPL                    2580 bp    mRNA    linear   PRI 24-APR-2001
DEFINITION  Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), mRNA.
ACCESSION   NM_000478
VERSION     NM_000478.2  GI:13787192
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2580)
  AUTHORS   Weiss,M.J., Henthorn,P.S., Lafferty,M.A., Slaughter,C., Raducha,M.
            and Harris,H.
  TITLE     Isolation and characterization of a cDNA encoding a human
            liver/bone/kidney-type alkaline phosphatase
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 83 (19), 7182-7186 (1986)
  MEDLINE   87016911
   PUBMED   3532105
REFERENCE   2  (bases 1 to 2580)
  AUTHORS   Weiss,M.J., Ray,K., Henthorn,P.S., Lamb,B., Kadesch,T. and
            Harris,H.
  TITLE     Structure of the human liver/bone/kidney alkaline phosphatase gene
  JOURNAL   J. Biol. Chem. 263 (24), 12002-12010 (1988)
  MEDLINE   88298884
   PUBMED   3165380
REFERENCE   3  (bases 1 to 2580)
  AUTHORS   Kishi,F., Matsuura,S. and Kajii,T.
  TITLE     Nucleotide sequence of the human liver-type alkaline phosphatase
            cDNA
  JOURNAL   Nucleic Acids Res. 17 (5), 2129 (1989)
  MEDLINE   89183624
   PUBMED   2928120
REFERENCE   4  (bases 1 to 2580)
  AUTHORS   Orimo,H., Goseki-Sone,M., Sato,S. and Shimada,T.
  TITLE     Detection of deletion 1154-1156 hypophosphatasia mutation using
            TNSALP exon amplification
  JOURNAL   Genomics 42 (2), 364-366 (1997)
  MEDLINE   97336068
   PUBMED   9192863
REFERENCE   5  (bases 1 to 2580)
  AUTHORS   Mornet,E.
  TITLE     Hypophosphatasia: the mutations in the tissue-nonspecific alkaline
            phosphatase gene
  JOURNAL   Hum. Mutat. 15 (4), 309-315 (2000)
  MEDLINE   20202136
   PUBMED   10737975
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB011406.1 and M24428.1.
            On Apr 25, 2001 this sequence version replaced gi:4502062.
            Summary: There are at least four distinct but related alkaline
            phosphatases: intestinal, placental, placental-like, and
            liver/bone/kidney (tissue non-specific). The first three are
            located together on chromosome 2 while the tissue non-specific form
            is located on chromosome 1. The product of this gene is a membrane
            bound glycosylated enzyme that is not expressed in any particular
            tissue and is, therefore, referred to as the tissue non-specific
            form of the enzyme. The exact physiological function of the
            alkaline phosphatases is not known. A proposed function of this
            form of the enzyme is matrix mineralization, however, mice that
            lack a functional form of this enzyme show normal skeletal
            development. This enzyme has been linked directly to a disorder
            known as hypophosphatasia, a disorder that is characterized by
            hypercalcemia and includes skeletal  defects. The character of this
            disorder can vary, however, depending on the specific mutation
            since this determines age of onset and severity of symptoms.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2580
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.1-p34"
     gene            1..2580
                     /gene="ALPL"
                     /note="HOPS; TNSALP; AP-TNAP"
                     /db_xref="LocusID:249"
                     /db_xref="MIM:171760"
     CDS             247..1821
                     /gene="ALPL"
                     /EC_number="3.1.3.1"
                     /note="glycerophosphatase; alkaline phosphomonoesterase"
                     /codon_start=1
                     /product="tissue non-specific alkaline phosphatase
                     precursor"
                     /protein_id="NP_000469.2"
                     /db_xref="GI:13787193"
                     /db_xref="LocusID:249"
                     /db_xref="MIM:171760"
                     /translation="MISPFLVLAIGTCLTNSLVPEKEKDPKYWRDQAQETLKYALELQ
                     KLNTNVAKNVIMFLGDGMGVSTVTAARILKGQLHHNPGEETRLEMDKFPFVALSKTYN
                     TNAQVPDSAGTATAYLCGVKANEGTVGVSAATERSRCNTTQGNEVTSILRWAKDAGKS
                     VGIVTTTRVNHATPSAAYAHSADRDWYSDNEMPPEALSQGCKDIAYQLMHNIRDIDVI
                     MGGGRKYMYPKNKTDVEYESDEKARGTRLDGLDLVDTWKSFKPRYKHSHFIWNRTELL
                     TLDPHNVDYLLGLFEPGDMQYELNRNNVTDPSLSEMVVVAIQILRKNPKGFFLLVEGG
                     RIDHGHHEGKAKQALHEAVEMDRAIGQAGSLTSSEDTLTVVTADHSHVFTFGGYTPRG
                     NSIFGLAPMLSDTDKKPFTAILYGNGPGYKVVGGERENVSMVDYAHNNYQAQSPVPLR
                     HETHGGEDVAVFSKGPMAHLLHGVHEQNYVPHVMAYAACIGANLGHCAPASSAGSLAA
                     GPLLLALALYPLSVLF"
     sig_peptide     247..297
                     /gene="ALPL"
     misc_feature    286..1716
                     /gene="ALPL"
                     /note="alk_phosphatase; Region: Alkaline phosphatase"
                     /db_xref="CDD:pfam00245"
     mat_peptide     298..1818
                     /gene="ALPL"
                     /product="tissue non-specific alkaline phosphatase"
     misc_feature    400..1719
                     /gene="ALPL"
                     /note="alkPPc; Region: Alkaline phosphatase homologues"
                     /db_xref="CDD:alkPPc"
     misc_feature    574..576
                     /gene="ALPL"
                     /note="active site"
     variation       1033
                     /gene="ALPL"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3200254"
     variation       1122
                     /gene="ALPL"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3200255"
     variation       1788
                     /gene="ALPL"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3200256"
     variation       1886
                     /gene="ALPL"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1697405"
     variation       1947
                     /gene="ALPL"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1697406"
     variation       2054
                     /gene="ALPL"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1772719"
     variation       2209
                     /gene="ALPL"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2242420"
     variation       2254
                     /gene="ALPL"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2242421"
     polyA_signal    2554..2559
                     /gene="ALPL"
     polyA_site      2580
                     /gene="ALPL"
BASE COUNT      557 a    847 c    694 g    482 t
ORIGIN      
        1 tcgggccccg cggccgcctt tataaggcgg cgggggtggt ggcccgggcc gcgttgcgct
       61 cccgccactc cgcgcccgct atcctggctc cgtgctccca cgcgcttgtg cctggacgga
      121 ccctcgccag tgctctgcgc aggattggaa catcagttaa catctgacca ctgccagccc
      181 accccctccc acccacgtcg attgcatctc tgggctccag ggataaagca ggtcttgggg
      241 tgcaccatga tttcaccatt cttagtactg gccattggca cctgccttac taactcctta
      301 gtgccagaga aagagaaaga ccccaagtac tggcgagacc aagcgcaaga gacactgaaa
      361 tatgccctgg agcttcagaa gctcaacacc aacgtggcta agaatgtcat catgttcctg
      421 ggagatggga tgggtgtctc cacagtgacg gctgcccgca tcctcaaggg tcagctccac
      481 cacaaccctg gggaggagac caggctggag atggacaagt tccccttcgt ggccctctcc
      541 aagacgtaca acaccaatgc ccaggtccct gacagcgccg gcaccgccac cgcctacctg
      601 tgtggggtga aggccaatga gggcaccgtg ggggtaagcg cagccactga gcgttcccgg
      661 tgcaacacca cccaggggaa cgaggtcacc tccatcctgc gctgggccaa ggacgctggg
      721 aaatctgtgg gcattgtgac caccacgaga gtgaaccatg ccacccccag cgccgcctac
      781 gcccactcgg ctgaccggga ctggtactca gacaacgaga tgccccctga ggccttgagc
      841 cagggctgta aggacatcgc ctaccagctc atgcataaca tcagggacat tgacgtgatc
      901 atggggggtg gccggaaata catgtacccc aagaataaaa ctgatgtgga gtatgagagt
      961 gacgagaaag ccaggggcac gaggctggac ggcctggacc tcgttgacac ctggaagagc
     1021 ttcaaaccga gatacaagca ctcccacttc atctggaacc gcacggaact cctgaccctt
     1081 gacccccaca atgtggacta cctattgggt ctcttcgagc caggggacat gcagtacgag
     1141 ctgaacagga acaacgtgac ggacccgtca ctctccgaga tggtggtggt ggccatccag
     1201 atcctgcgga agaaccccaa aggcttcttc ttgctggtgg aaggaggcag aattgaccac
     1261 gggcaccatg aaggaaaagc caagcaggcc ctgcatgagg cggtggagat ggaccgggcc
     1321 atcgggcagg caggcagctt gacctcctcg gaagacactc tgaccgtggt cactgcggac
     1381 cattcccacg tcttcacatt tggtggatac accccccgtg gcaactctat ctttggtctg
     1441 gcccccatgc tgagtgacac agacaagaag cccttcactg ccatcctgta tggcaatggg
     1501 cctggctaca aggtggtggg cggtgaacga gagaatgtct ccatggtgga ctatgctcac
     1561 aacaactacc aggcgcagtc tcctgtgccc ctgcgccacg agacccacgg cggggaggac
     1621 gtggccgtct tctccaaggg ccccatggcg cacctgctgc acggcgtcca cgagcagaac
     1681 tacgtccccc acgtgatggc gtatgcagcc tgcatcgggg ccaacctcgg ccactgtgct
     1741 cctgccagct cggcaggcag ccttgctgca ggccccctgc tgctcgctct ggccctctac
     1801 cccctgagcg tcctgttctg agggcccagg gcccgggcac ccacaagccc gtgacagatg
     1861 ccaacttccc acacggcagc ccccccctca aggggcaggg aggtgggggc ctcctcagcc
     1921 tctgcaactg caagaaaggg gacccaggaa accaaagtct gccgcccacc tcgctcccct
     1981 ctggaatctt ccccaagggc caaacccact tctggcctcc agcctttgct ccctccccgc
     2041 tgccctttgg ccaccagggt agatttctct tgggcaggca gagagtacag actgcagaca
     2101 ttctcaaagc ctcttatttt tctagcgaac gtatttctcc agacccagag gccctgaagc
     2161 ctccgtggaa cattgtggat ctgaccctcc cagtctcatc tcctgaccct cccactccca
     2221 tctccttacc tctggaaccc cccaggccct acaatgctca tgtccctgtc cccaggcgag
     2281 ccctccttca ggggagttga ggtctttctc ctcaggacaa ggccttgctc actcactcac
     2341 tccaagacca ccagggtccc aggaagccgg tgcctgggtg gccatcctac ccagcgtgcc
     2401 caggccggga agagccacct ggcagggctc acactcctgg gctctgaaca cacacgccag
     2461 ctcctctctg aagcgactct cctgtttgga acggcaaaaa aaaatttttt tttctctttt
     2521 tggtggtggt taaaagggaa cacaaaacat ttaaataaaa ctttccaaat atttccgagg
//



Revised: July 5, 2002.
 
 


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1: NM_002026. Homo sapiens fibr...[gi:16933541] Links  


LOCUS       FN1                     8027 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.
ACCESSION   NM_002026
VERSION     NM_002026.1  GI:16933541
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8027)
  AUTHORS   Kornblihtt,A.R., Vibe-Pedersen,K. and Baralle,F.E.
  TITLE     Isolation and characterization of cDNA clones for human and bovine
            fibronectins
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 80 (11), 3218-3222 (1983)
  MEDLINE   83221567
   PUBMED   6304699
REFERENCE   2  (bases 1 to 8027)
  AUTHORS   Kornblihtt,A.R., Vibe-Pedersen,K. and Baralle,F.E.
  TITLE     Human fibronectin: molecular cloning evidence for two mRNA species
            differing by an internal segment coding for a structural domain
  JOURNAL   EMBO J. 3 (1), 221-226 (1984)
  MEDLINE   84158533
   PUBMED   6200322
REFERENCE   3  (bases 1 to 8027)
  AUTHORS   Kornblihtt,A.R., Vibe-Pedersen,K. and Baralle,F.E.
  TITLE     Human fibronectin: cell specific alternative mRNA splicing
            generates polypeptide chains differing in the number of internal
            repeats
  JOURNAL   Nucleic Acids Res. 12 (14), 5853-5868 (1984)
  MEDLINE   84272258
   PUBMED   6462919
REFERENCE   4  (bases 1 to 8027)
  AUTHORS   Bernard,M.P., Kolbe,M., Weil,D. and Chu,M.L.
  TITLE     Human cellular fibronectin: comparison of the carboxyl-terminal
            portion with rat identifies primary structural domains separated by
            hypervariable regions
  JOURNAL   Biochemistry 24 (11), 2698-2704 (1985)
  MEDLINE   85280409
   PUBMED   2992573
REFERENCE   5  (bases 1 to 8027)
  AUTHORS   Umezawa,K., Kornblihtt,A.R. and Baralle,F.E.
  TITLE     Isolation and characterization of cDNA clones for human liver
            fibronectin
  JOURNAL   FEBS Lett. 186 (1), 31-34 (1985)
  MEDLINE   85231203
   PUBMED   2989004
REFERENCE   6  (bases 1 to 8027)
  AUTHORS   Kornblihtt,A.R., Umezawa,K., Vibe-Pedersen,K. and Baralle,F.E.
  TITLE     Primary structure of human fibronectin: differential splicing may
            generate at least 10 polypeptides from a single gene
  JOURNAL   EMBO J. 4 (7), 1755-1759 (1985)
  MEDLINE   85284965
   PUBMED   2992939
REFERENCE   7  (bases 1 to 8027)
  AUTHORS   Sekiguchi,K., Klos,A.M., Kurachi,K., Yoshitake,S. and Hakomori,S.
  TITLE     Human liver fibronectin complementary DNAs: identification of two
            different messenger RNAs possibly encoding the alpha and beta
            subunits of plasma fibronectin
  JOURNAL   Biochemistry 25 (17), 4936-4941 (1986)
  MEDLINE   87026578
   PUBMED   3021206
REFERENCE   8  (bases 1 to 8027)
  AUTHORS   Gutman,A., Yamada,K.M. and Kornblihtt,A.
  TITLE     Human fibronectin is synthesized as a pre-propolypeptide
  JOURNAL   FEBS Lett. 207 (1), 145-148 (1986)
  MEDLINE   87030890
   PUBMED   3770189
REFERENCE   9  (bases 1 to 8027)
  AUTHORS   Dean,D.C., Bowlus,C.L. and Bourgeois,S.
  TITLE     Cloning and analysis of the promotor region of the human
            fibronectin gene
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 84 (7), 1876-1880 (1987)
  MEDLINE   87175578
   PUBMED   3031656
REFERENCE   10 (bases 1 to 8027)
  AUTHORS   Gutman,A. and Kornblihtt,A.R.
  TITLE     Identification of a third region of cell-specific alternative
            splicing in human fibronectin mRNA
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 84 (20), 7179-7182 (1987)
  MEDLINE   88041070
   PUBMED   3478690
REFERENCE   11 (bases 1 to 8027)
  AUTHORS   Wu,B.L., Milunsky,A., Wyandt,H., Hoth,C., Baldwin,C. and Skare,J.
  TITLE     In situ hybridization applied to Waardenburg syndrome
  JOURNAL   Cytogenet. Cell Genet. 63 (1), 29-32 (1993)
  MEDLINE   93193471
   PUBMED   8449034
REFERENCE   12 (bases 1 to 8027)
  AUTHORS   french-Constant,C.
  TITLE     Alternative splicing of fibronectin--many different proteins but
            few different functions
  JOURNAL   Exp. Cell Res. 221 (2), 261-271 (1995)
  MEDLINE   96086744
   PUBMED   7493623
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X02761.1 and M15801.1.
            Summary: This gene encodes fibronectin, a glycoprotein present in a
            soluble dimeric form in plasma, and in a dimeric or multimeric form
            at the cell surface and in extracellular matrix. Fibronectin is
            involved in cell adhesion and migration processes including
            embryogenesis, wound healing, blood coagulation, host defense, and
            metastasis. The gene has three regions subject to alternative
            splicing, with the potential to produce 20 different transcript
            variants. However, the full length sequence of only two variants is
            known.
            Transcript Variant: This variant (1) lacks an exon containing the
            EDII (extra domain II) region. It encodes a 2355 aa isoform of the
            protein.
FEATURES             Location/Qualifiers
     source          1..8027
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q34"
     gene            1..8027
                     /gene="FN1"
                     /note="FN; CIG; FINC; LETS"
                     /db_xref="LocusID:2335"
                     /db_xref="MIM:135600"
     CDS             268..7335
                     /gene="FN1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cold-insoluble globulin"
                     /codon_start=1
                     /product="fibronectin 1 isoform 1 preproprotein"
                     /protein_id="NP_002017.1"
                     /db_xref="GI:16933542"
                     /db_xref="LocusID:2335"
                     /db_xref="MIM:135600"
                     /translation="MLRGPGPGLLLLAVQCLGTAVPSTGASKSKRQAQQMVQPQSPVA
                     VSQSKPGCYDNGKHYQINQQWERTYLGNALVCTCYGGSRGFNCESKPEAEETCFDKYT
                     GNTYRVGDTYERPKDSMIWDCTCIGAGRGRISCTIANRCHEGGQSYKIGDTWRRPHET
                     GGYMLECVCLGNGKGEWTCKPIAEKCFDHAAGTSYVVGETWEKPYQGWMMVDCTCLGE
                     GSGRITCTSRNRCNDQDTRTSYRIGDTWSKKDNRGNLLQCICTGNGRGEWKCERHTSV
                     QTTSSGSGPFTDVRAAVYQPQPHPQPPPYGHCVTDSGVVYSVGMQWLKTQGNKQMLCT
                     CLGNGVSCQETAVTQTYGGNSNGEPCVLPFTYNGRTFYSCTTEGRQDGHLWCSTTSNY
                     EQDQKYSFCTDHTVLVQTRGGNSNGALCHFPFLYNNHNYTDCTSEGRRDNMKWCGTTQ
                     NYDADQKFGFCPMAAHEEICTTNEGVMYRIGDQWDKQHDMGHMMRCTCVGNGRGEWTC
                     IAYSQLRDQCIVDDITYNVNDTFHKRHEEGHMLNCTCFGQGRGRWKCDPVDQCQDSET
                     GTFYQIGDSWEKYVHGVRYQCYCYGRGIGEWHCQPLQTYPSSSGPVEVFITETPSQPN
                     SHPIQWNAPQPSHISKYILRWRPKNSVGRWKEATIPGHLNSYTIKGLKPGVVYEGQLI
                     SIQQYGHQEVTRFDFTTTSTSTPVTSNTVTGETTPFSPLVATSESVTEITASSFVVSW
                     VSASDTVSGFRVEYELSEEGDEPQYLDLPSTATSVNIPDLLPGRKYIVNVYQISEDGE
                     QSLILSTSQTTAPDAPPDPTVDQVDDTSIVVRWSRPQAPITGYRIVYSPSVEGSSTEL
                     NLPETANSVTLSDLQPGVQYNITIYAVEENQESTPVVIQQETTGTPRSDTVPSPRDLQ
                     FVEVTDVKVTIMWTPPESAVTGYRVDVIPVNLPGEHGQRLPISRNTFAEVTGLSPGVT
                     YYFKVFAVSHGRESKPLTAQQTTKLDAPTNLQFVNETDSTVLVRWTPPRAQITGYRLT
                     VGLTRRGQPRQYNVGPSVSKYPLRNLQPASEYTVSLVAIKGNQESPKATGVFTTLQPG
                     SSIPPYNTEVTETTIVITWTPAPRIGFKLGVRPSQGGEAPREVTSDSGSIVVSGLTPG
                     VEYVYTIQVLRDGQERDAPIVNKVVTPLSPPTNLHLEANPDTGVLTVSWERSTTPDIT
                     GYRITTTPTNGQQGNSLEEVVHADQSSCTFDNLSPGLEYNVSVYTVKDDKESVPISDT
                     IIPAVPPPTDLRFTNIGPDTMRVTWAPPPSIDLTNFLVRYSPVKNEEDVAELSISPSD
                     NAVVLTNLLPGTEYVVSVSSVYEQHESTPLRGRQKTGLDSPTGIDFSDITANSFTVHW
                     IAPRATITGYRIRHHPEHFSGRPREDRVPHSRNSITLTNLTPGTEYVVSIVALNGREE
                     SPLLIGQQSTVSDVPRDLEVVAATPTSLLISWDAPAVTVRYYRITYGETGGNSPVQEF
                     TVPGSKSTATISGLKPGVDYTITVYAVTGRGDSPASSKPISINYRTEIDKPSQMQVTD
                     VQDNSISVKWLPSSSPVTGYRVTTTPKNGPGPTKTKTAGPDQTEMTIEGLQPTVEYVV
                     SVYAQNPSGESQPLVQTAVTNIDRPKGLAFTDVDVDSIKIAWESPQGQVSRYRVTYSS
                     PEDGIHELFPAPDGEEDTAELQGLRPGSEYTVSVVALHDDMESQPLIGTQSTAIPAPT
                     DLKFTQVTPTSLSAQWTPPNVQLTGYRVRVTPKEKTGPMKEINLAPDSSSVVVSGLMV
                     ATKYEVSVYALKDTLTSRPAQGVVTTLENVSPPRRARVTDATETTITISWRTKTETIT
                     GFQVDAVPANGQTPIQRTIKPDVRSYTITGLQPGTDYKIYLYTLNDNARSSPVVIDAS
                     TAIDAPSNLRFLATTPNSLLVSWQPPRARITGYIIKYEKPGSPPREVVPRPRPGVTEA
                     TITGLEPGTEYTIYVIALKNNQKSEPLIGRKKTDELPQLVTLPHPNLHGPEILDVPST
                     VQKTPFVTHPGYDTGNGIQLPGTSGQQPSVGQQMIFEEHGFRRTTPPTTATPIRHRPR
                     PYPPNVGQEALSQTTISWAPFQDTSEYIISCHPVGTDEEPLQFRVPGTSTSATLTGLT
                     RGATYNIIVEALKDQQRHKVREEVVTVGNSVNEGLNQPTDDSCFDPYTVSHYAVGDEW
                     ERMSESGFKLLCQCLGFGSGHFRCDSSRWCHDNGVNYKIGEKWDRQGENGQMMSCTCL
                     GNGKGEFKCDPHEATCYDDGKTYHVGEQWQKEYLGAICSCTCFGGQRGWRCDNCRRPG
                     GEPSPEGTTGQSYNQYSQRYHQRTNTNVNCPIECFMPLDVQADREDSRE"
     sig_peptide     268..345
                     /gene="FN1"
     mat_peptide     361..7332
                     /gene="FN1"
                     /product="fibronectin 1, isoform 1"
     misc_feature    421..543
                     /gene="FN1"
                     /note="Region: smart00058, FN1, Fibronectin type 1 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. Found also in coagulation factor
                     XII, HGF activator and tissue-type plasminogen activator.
                     In t-PA and fibronectin, this domain type contributes to
                     fibrin-binding"
     misc_feature    421..528
                     /gene="FN1"
                     /note="Region: pfam00039, fn1, Fibronectin type I domain"
     misc_feature    556..687
                     /gene="FN1"
                     /note="Region: smart00058, FN1, Fibronectin type 1 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. Found also in coagulation factor
                     XII, HGF activator and tissue-type plasminogen activator.
                     In t-PA and fibronectin, this domain type contributes to
                     fibrin-binding"
     misc_feature    556..672
                     /gene="FN1"
                     /note="Region: pfam00039, fn1, Fibronectin type I domain"
     misc_feature    688..819
                     /gene="FN1"
                     /note="Region: smart00058, FN1, Fibronectin type 1 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. Found also in coagulation factor
                     XII, HGF activator and tissue-type plasminogen activator.
                     In t-PA and fibronectin, this domain type contributes to
                     fibrin-binding"
     misc_feature    688..804
                     /gene="FN1"
                     /note="Region: pfam00039, fn1, Fibronectin type I domain"
     misc_feature    823..957
                     /gene="FN1"
                     /note="Region: smart00058, FN1, Fibronectin type 1 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. Found also in coagulation factor
                     XII, HGF activator and tissue-type plasminogen activator.
                     In t-PA and fibronectin, this domain type contributes to
                     fibrin-binding"
     misc_feature    823..942
                     /gene="FN1"
                     /note="Region: pfam00039, fn1, Fibronectin type I domain"
     misc_feature    958..1092
                     /gene="FN1"
                     /note="Region: smart00058, FN1, Fibronectin type 1 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. Found also in coagulation factor
                     XII, HGF activator and tissue-type plasminogen activator.
                     In t-PA and fibronectin, this domain type contributes to
                     fibrin-binding"
     misc_feature    958..1077
                     /gene="FN1"
                     /note="Region: pfam00039, fn1, Fibronectin type I domain"
     misc_feature    1189..1308
                     /gene="FN1"
                     /note="Region: smart00058, FN1, Fibronectin type 1 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. Found also in coagulation factor
                     XII, HGF activator and tissue-type plasminogen activator.
                     In t-PA and fibronectin, this domain type contributes to
                     fibrin-binding"
     misc_feature    1198..1290
                     /gene="FN1"
                     /note="Region: pfam00039, fn1, Fibronectin type I domain"
     misc_feature    1324..1470
                     /gene="FN1"
                     /note="Region: smart00059, FN2, Fibronectin type 2 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. Also occurs in coagulation factor
                     XII, 2 type IV collagenases, PDC-109, and
                     cation-independent mannose-6-phosphate and secretory
                     phospholipase A2 receptors. In fibronectin, PDC-109, and
                     the collagenases, this domain contributes to
                     collagen-binding function"
     misc_feature    1345..1470
                     /gene="FN1"
                     /note="Region: pfam00040, fn2, Fibronectin type II domain"
     misc_feature    1504..1650
                     /gene="FN1"
                     /note="Region: smart00059, FN2, Fibronectin type 2 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. Also occurs in coagulation factor
                     XII, 2 type IV collagenases, PDC-109, and
                     cation-independent mannose-6-phosphate and secretory
                     phospholipase A2 receptors. In fibronectin, PDC-109, and
                     the collagenases, this domain contributes to
                     collagen-binding function"
     misc_feature    1525..1650
                     /gene="FN1"
                     /note="Region: pfam00040, fn2, Fibronectin type II domain"
     misc_feature    1675..1791
                     /gene="FN1"
                     /note="Region: smart00058, FN1, Fibronectin type 1 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. Found also in coagulation factor
                     XII, HGF activator and tissue-type plasminogen activator.
                     In t-PA and fibronectin, this domain type contributes to
                     fibrin-binding"
     misc_feature    1678..1791
                     /gene="FN1"
                     /note="Region: pfam00039, fn1, Fibronectin type I domain"
     misc_feature    1834..1947
                     /gene="FN1"
                     /note="Region: smart00058, FN1, Fibronectin type 1 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. Found also in coagulation factor
                     XII, HGF activator and tissue-type plasminogen activator.
                     In t-PA and fibronectin, this domain type contributes to
                     fibrin-binding"
     misc_feature    1834..1932
                     /gene="FN1"
                     /note="Region: pfam00039, fn1, Fibronectin type I domain"
     misc_feature    1948..2079
                     /gene="FN1"
                     /note="Region: smart00058, FN1, Fibronectin type 1 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. Found also in coagulation factor
                     XII, HGF activator and tissue-type plasminogen activator.
                     In t-PA and fibronectin, this domain type contributes to
                     fibrin-binding"
     misc_feature    1948..2064
                     /gene="FN1"
                     /note="Region: pfam00039, fn1, Fibronectin type I domain"
     misc_feature    2113..2331
                     /gene="FN1"
                     /note="Region: smart00060, FN3, Fibronectin type 3 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. The tenth fibronectin type III
                     repeat contains a RGD cell recognition sequence in a
                     flexible loop between 2 strands. Type III modules are
                     present in both extracellular and intracellular proteins"
     misc_feature    2122..2331
                     /gene="FN1"
                     /note="Region: pfam00041, fn3, Fibronectin type III
                     domain"
     misc_feature    2500..2661
                     /gene="FN1"
                     /note="Region: pfam00041, fn3, Fibronectin type III
                     domain"
     misc_feature    2743..2940
                     /gene="FN1"
                     /note="Region: pfam00041, fn3, Fibronectin type III
                     domain"
     misc_feature    2743..2934
                     /gene="FN1"
                     /note="Region: smart00060, FN3, Fibronectin type 3 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. The tenth fibronectin type III
                     repeat contains a RGD cell recognition sequence in a
                     flexible loop between 2 strands. Type III modules are
                     present in both extracellular and intracellular proteins"
     misc_feature    2989..3225
                     /gene="FN1"
                     /note="Region: smart00060, FN3, Fibronectin type 3 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. The tenth fibronectin type III
                     repeat contains a RGD cell recognition sequence in a
                     flexible loop between 2 strands. Type III modules are
                     present in both extracellular and intracellular proteins"
     misc_feature    2995..3231
                     /gene="FN1"
                     /note="Region: pfam00041, fn3, Fibronectin type III
                     domain"
     misc_feature    3259..3492
                     /gene="FN1"
                     /note="Region: smart00060, FN3, Fibronectin type 3 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. The tenth fibronectin type III
                     repeat contains a RGD cell recognition sequence in a
                     flexible loop between 2 strands. Type III modules are
                     present in both extracellular and intracellular proteins"
     misc_feature    3265..3495
                     /gene="FN1"
                     /note="Region: pfam00041, fn3, Fibronectin type III
                     domain"
     misc_feature    3790..4035
                     /gene="FN1"
                     /note="Region: smart00060, FN3, Fibronectin type 3 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. The tenth fibronectin type III
                     repeat contains a RGD cell recognition sequence in a
                     flexible loop between 2 strands. Type III modules are
                     present in both extracellular and intracellular proteins"
     misc_feature    3796..4041
                     /gene="FN1"
                     /note="Region: pfam00041, fn3, Fibronectin type III
                     domain"
     misc_feature    4069..4269
                     /gene="FN1"
                     /note="Region: smart00060, FN3, Fibronectin type 3 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. The tenth fibronectin type III
                     repeat contains a RGD cell recognition sequence in a
                     flexible loop between 2 strands. Type III modules are
                     present in both extracellular and intracellular proteins"
     misc_feature    4075..4269
                     /gene="FN1"
                     /note="Region: pfam00041, fn3, Fibronectin type III
                     domain"
     misc_feature    4342..4578
                     /gene="FN1"
                     /note="Region: smart00060, FN3, Fibronectin type 3 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. The tenth fibronectin type III
                     repeat contains a RGD cell recognition sequence in a
                     flexible loop between 2 strands. Type III modules are
                     present in both extracellular and intracellular proteins"
     misc_feature    4348..4581
                     /gene="FN1"
                     /note="Region: pfam00041, fn3, Fibronectin type III
                     domain"
     misc_feature    4612..4848
                     /gene="FN1"
                     /note="Region: smart00060, FN3, Fibronectin type 3 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. The tenth fibronectin type III
                     repeat contains a RGD cell recognition sequence in a
                     flexible loop between 2 strands. Type III modules are
                     present in both extracellular and intracellular proteins"
     misc_feature    4618..4857
                     /gene="FN1"
                     /note="Region: pfam00041, fn3, Fibronectin type III
                     domain"
     misc_feature    4894..5130
                     /gene="FN1"
                     /note="Region: smart00060, FN3, Fibronectin type 3 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. The tenth fibronectin type III
                     repeat contains a RGD cell recognition sequence in a
                     flexible loop between 2 strands. Type III modules are
                     present in both extracellular and intracellular proteins"
     misc_feature    4900..5136
                     /gene="FN1"
                     /note="Region: pfam00041, fn3, Fibronectin type III
                     domain"
     misc_feature    5164..5400
                     /gene="FN1"
                     /note="Region: smart00060, FN3, Fibronectin type 3 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. The tenth fibronectin type III
                     repeat contains a RGD cell recognition sequence in a
                     flexible loop between 2 strands. Type III modules are
                     present in both extracellular and intracellular proteins"
     misc_feature    5170..5406
                     /gene="FN1"
                     /note="Region: pfam00041, fn3, Fibronectin type III
                     domain"
     misc_feature    5434..5649
                     /gene="FN1"
                     /note="Region: smart00060, FN3, Fibronectin type 3 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. The tenth fibronectin type III
                     repeat contains a RGD cell recognition sequence in a
                     flexible loop between 2 strands. Type III modules are
                     present in both extracellular and intracellular proteins"
     misc_feature    5440..5676
                     /gene="FN1"
                     /note="Region: pfam00041, fn3, Fibronectin type III
                     domain"
     misc_feature    5710..5943
                     /gene="FN1"
                     /note="Region: smart00060, FN3, Fibronectin type 3 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. The tenth fibronectin type III
                     repeat contains a RGD cell recognition sequence in a
                     flexible loop between 2 strands. Type III modules are
                     present in both extracellular and intracellular proteins"
     misc_feature    5716..5949
                     /gene="FN1"
                     /note="Region: pfam00041, fn3, Fibronectin type III
                     domain"
     misc_feature    5977..6213
                     /gene="FN1"
                     /note="Region: smart00060, FN3, Fibronectin type 3 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. The tenth fibronectin type III
                     repeat contains a RGD cell recognition sequence in a
                     flexible loop between 2 strands. Type III modules are
                     present in both extracellular and intracellular proteins"
     misc_feature    5983..6219
                     /gene="FN1"
                     /note="Region: pfam00041, fn3, Fibronectin type III
                     domain"
     misc_feature    6790..6924
                     /gene="FN1"
                     /note="Region: smart00058, FN1, Fibronectin type 1 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. Found also in coagulation factor
                     XII, HGF activator and tissue-type plasminogen activator.
                     In t-PA and fibronectin, this domain type contributes to
                     fibrin-binding"
     misc_feature    6790..6909
                     /gene="FN1"
                     /note="Region: pfam00039, fn1, Fibronectin type I domain"
     misc_feature    6925..7050
                     /gene="FN1"
                     /note="Region: smart00058, FN1, Fibronectin type 1 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. Found also in coagulation factor
                     XII, HGF activator and tissue-type plasminogen activator.
                     In t-PA and fibronectin, this domain type contributes to
                     fibrin-binding"
     misc_feature    6925..7038
                     /gene="FN1"
                     /note="Region: pfam00039, fn1, Fibronectin type I domain"
     misc_feature    7057..7179
                     /gene="FN1"
                     /note="Region: smart00058, FN1, Fibronectin type 1 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. Found also in coagulation factor
                     XII, HGF activator and tissue-type plasminogen activator.
                     In t-PA and fibronectin, this domain type contributes to
                     fibrin-binding"
     misc_feature    7057..7164
                     /gene="FN1"
                     /note="Region: pfam00039, fn1, Fibronectin type I domain"
     variation       complement(311)
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1250259"
     misc_feature    346..7332
                     /gene="FN1"
                     /note="fibronectin 1, isoform 1 proprotein"
     misc_feature    421..1083
                     /gene="FN1"
                     /note="region of internal homology I (5 subunits); domain
                     with fibrin-, heparin-, s.aureus-binding activity"
     variation       complement(645)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2289202"
     misc_feature    1189..1299
                     /gene="FN1"
                     /note="region of internal homology I (1 subunit); domain
                     with collagen-binding activity"
     misc_feature    1300..1674
                     /gene="FN1"
                     /note="region of internal homology II (2 subunits) domain
                     with collagen-binding activity"
     misc_feature    1675..2091
                     /gene="FN1"
                     /note="region of internal homology I (3 subunits) domain
                     with collagen-binding activity"
     misc_feature    2092..2367
                     /gene="FN1"
                     /note="region of internal homology III (1 subunit)"
     misc_feature    2422..6240
                     /gene="FN1"
                     /note="region of internal homology III (14 subunits)"
     misc_feature    2694..3522
                     /gene="FN1"
                     /note="domain with DNA-binding activity"
     variation       3423
                     /gene="FN1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1053238"
     misc_feature    4063^4064
                     /gene="FN1"
                     /note="alternatively spliced exon: EDII region; see
                     Accession M18178.1"
     variation       4719
                     /gene="FN1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3193781"
     misc_feature    4837..4848
                     /gene="FN1"
                     /note="cell binding site"
     misc_feature    5158..5427
                     /gene="FN1"
                     /note="alternatively spliced exon: EDI region"
     misc_feature    5428..6240
                     /gene="FN1"
                     /note="domain with heparin-binding activity"
     variation       5685
                     /gene="FN1"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3193822"
     variation       5685
                     /gene="FN1"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1132741"
     misc_feature    6241..6507
                     /gene="FN1"
                     /note="alternatively spliced exon: III CS region"
     misc_feature    6508..6720
                     /gene="FN1"
                     /note="region of internal homology III (1 subunit)"
     misc_feature    6789..7185
                     /gene="FN1"
                     /note="region of internal homology I (3 subunits); domain
                     with fibrin-binding activity"
     variation       7062
                     /gene="FN1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3193972"
     variation       7062
                     /gene="FN1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:11651"
     variation       7887
                     /gene="FN1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:6782"
     polyA_signal    8006..8011
                     /gene="FN1"
     polyA_site      8026
                     /gene="FN1"
                     /evidence=experimental
BASE COUNT     2130 a   2111 c   1973 g   1813 t
ORIGIN      
        1 acgcccgcgc cggctgtgct gcacaggggg aggagaggga accccaggcg cgagcgggaa
       61 gaggggacct gcagccacaa cttctctggt cctctgcatc ccttctgtcc ctccacccgt
      121 ccccttcccc accctctggc ccccaccttc ttggaggcga caacccccgg gaggcattag
      181 aagggatttt tcccgcagtt gcgaagggaa gcaaacttgg tggcaacttg cctcccggtg
      241 cgggcgtctc tcccccaccg tctcaacatg cttaggggtc cggggcccgg gctgctgctg
      301 ctggccgtcc agtgcctggg gacagcggtg ccctccacgg gagcctcgaa gagcaagagg
      361 caggctcagc aaatggttca gccccagtcc ccggtggctg tcagtcaaag caagcccggt
      421 tgttatgaca atggaaaaca ctatcagata aatcaacagt gggagcggac ctacctaggc
      481 aatgcgttgg tttgtacttg ttatggagga agccgaggtt ttaactgcga gagtaaacct
      541 gaagctgaag agacttgctt tgacaagtac actgggaaca cttaccgagt gggtgacact
      601 tatgagcgtc ctaaagactc catgatctgg gactgtacct gcatcggggc tgggcgaggg
      661 agaataagct gtaccatcgc aaaccgctgc catgaagggg gtcagtccta caagattggt
      721 gacacctgga ggagaccaca tgagactggt ggttacatgt tagagtgtgt gtgtcttggt
      781 aatggaaaag gagaatggac ctgcaagccc atagctgaga agtgttttga tcatgctgct
      841 gggacttcct atgtggtcgg agaaacgtgg gagaagccct accaaggctg gatgatggta
      901 gattgtactt gcctgggaga aggcagcgga cgcatcactt gcacttctag aaatagatgc
      961 aacgatcagg acacaaggac atcctataga attggagaca cctggagcaa gaaggataat
     1021 cgaggaaacc tgctccagtg catctgcaca ggcaacggcc gaggagagtg gaagtgtgag
     1081 aggcacacct ctgtgcagac cacatcgagc ggatctggcc ccttcaccga tgttcgtgca
     1141 gctgtttacc aaccgcagcc tcacccccag cctcctccct atggccactg tgtcacagac
     1201 agtggtgtgg tctactctgt ggggatgcag tggctgaaga cacaaggaaa taagcaaatg
     1261 ctttgcacgt gcctgggcaa cggagtcagc tgccaagaga cagctgtaac ccagacttac
     1321 ggtggcaact caaatggaga gccatgtgtc ttaccattca cctacaatgg caggacgttc
     1381 tactcctgca ccacggaagg gcgacaggac ggacatcttt ggtgcagcac aacttcgaat
     1441 tatgagcagg accagaaata ctctttctgc acagaccaca ctgttttggt tcagactcga
     1501 ggaggaaatt ccaatggtgc cttgtgccac ttccccttcc tatacaacaa ccacaattac
     1561 actgattgca cttctgaggg cagaagagac aacatgaagt ggtgtgggac cacacagaac
     1621 tatgatgccg accagaagtt tgggttctgc cccatggctg cccacgagga aatctgcaca
     1681 accaatgaag gggtcatgta ccgcattgga gatcagtggg ataagcagca tgacatgggt
     1741 cacatgatga ggtgcacgtg tgttgggaat ggtcgtgggg aatggacatg cattgcctac
     1801 tcgcagcttc gagatcagtg cattgttgat gacatcactt acaatgtgaa cgacacattc
     1861 cacaagcgtc atgaagaggg gcacatgctg aactgtacat gcttcggtca gggtcggggc
     1921 aggtggaagt gtgatcccgt cgaccaatgc caggattcag agactgggac gttttatcaa
     1981 attggagatt catgggagaa gtatgtgcat ggtgtcagat accagtgcta ctgctatggc
     2041 cgtggcattg gggagtggca ttgccaacct ttacagacct atccaagctc aagtggtcct
     2101 gtcgaagtat ttatcactga gactccgagt cagcccaact cccaccccat ccagtggaat
     2161 gcaccacagc catctcacat ttccaagtac attctcaggt ggagacctaa aaattctgta
     2221 ggccgttgga aggaagctac cataccaggc cacttaaact cctacaccat caaaggcctg
     2281 aagcctggtg tggtatacga gggccagctc atcagcatcc agcagtacgg ccaccaagaa
     2341 gtgactcgct ttgacttcac caccaccagc accagcacac ctgtgaccag caacaccgtg
     2401 acaggagaga cgactccctt ttctcctctt gtggccactt ctgaatctgt gaccgaaatc
     2461 acagccagta gctttgtggt ctcctgggtc tcagcttccg acaccgtgtc gggattccgg
     2521 gtggaatatg agctgagtga ggagggagat gagccacagt acctggatct tccaagcaca
     2581 gccacttctg tgaacatccc tgacctgctt cctggccgaa aatacattgt aaatgtctat
     2641 cagatatctg aggatgggga gcagagtttg atcctgtcta cttcacaaac aacagcgcct
     2701 gatgcccctc ctgacccgac tgtggaccaa gttgatgaca cctcaattgt tgttcgctgg
     2761 agcagacccc aggctcccat cacagggtac agaatagtct attcgccatc agtagaaggt
     2821 agcagcacag aactcaacct tcctgaaact gcaaactccg tcaccctcag tgacttgcaa
     2881 cctggtgttc agtataacat cactatctat gctgtggaag aaaatcaaga aagtacacct
     2941 gttgtcattc aacaagaaac cactggcacc ccacgctcag atacagtgcc ctctcccagg
     3001 gacctgcagt ttgtggaagt gacagacgtg aaggtcacca tcatgtggac accgcctgag
     3061 agtgcagtga ccggctaccg tgtggatgtg atccccgtca acctgcctgg cgagcacggg
     3121 cagaggctgc ccatcagcag gaacaccttt gcagaagtca ccgggctgtc ccctggggtc
     3181 acctattact tcaaagtctt tgcagtgagc catgggaggg agagcaagcc tctgactgct
     3241 caacagacaa ccaaactgga tgctcccact aacctccagt ttgtcaatga aactgattct
     3301 actgtcctgg tgagatggac tccacctcgg gcccagataa caggataccg actgaccgtg
     3361 ggccttaccc gaagaggcca gcccaggcag tacaatgtgg gtccctctgt ctccaagtac
     3421 cccctgagga atctgcagcc tgcatctgag tacaccgtat ccctcgtggc cataaagggc
     3481 aaccaagaga gccccaaagc cactggagtc tttaccacac tgcagcctgg gagctctatt
     3541 ccaccttaca acaccgaggt gactgagacc accatcgtga tcacatggac gcctgctcca
     3601 agaattggtt ttaagctggg tgtacgacca agccagggag gagaggcacc acgagaagtg
     3661 acttcagact caggaagcat cgttgtgtcc ggcttgactc caggagtaga atacgtctac
     3721 accatccaag tcctgagaga tggacaggaa agagatgcgc caattgtaaa caaagtggtg
     3781 acaccattgt ctccaccaac aaacttgcat ctggaggcaa accctgacac tggagtgctc
     3841 acagtctcct gggagaggag caccacccca gacattactg gttatagaat taccacaacc
     3901 cctacaaacg gccagcaggg aaattctttg gaagaagtgg tccatgctga tcagagctcc
     3961 tgcacttttg ataacctgag tcccggcctg gagtacaatg tcagtgttta cactgtcaag
     4021 gatgacaagg aaagtgtccc tatctctgat accatcatcc cagctgttcc tcctcccact
     4081 gacctgcgat tcaccaacat tggtccagac accatgcgtg tcacctgggc tccaccccca
     4141 tccattgatt taaccaactt cctggtgcgt tactcacctg tgaaaaatga ggaagatgtt
     4201 gcagagttgt caatttctcc ttcagacaat gcagtggtct taacaaatct cctgcctggt
     4261 acagaatatg tagtgagtgt ctccagtgtc tacgaacaac atgagagcac acctcttaga
     4321 ggaagacaga aaacaggtct tgattcccca actggcattg acttttctga tattactgcc
     4381 aactctttta ctgtgcactg gattgctcct cgagccacca tcactggcta caggatccgc
     4441 catcatcccg agcacttcag tgggagacct cgagaagatc gggtgcccca ctctcggaat
     4501 tccatcaccc tcaccaacct cactccaggc acagagtatg tggtcagcat cgttgctctt
     4561 aatggcagag aggaaagtcc cttattgatt ggccaacaat caacagtttc tgatgttccg
     4621 agggacctgg aagttgttgc tgcgaccccc accagcctac tgatcagctg ggatgctcct
     4681 gctgtcacag tgagatatta caggatcact tacggagaaa caggaggaaa tagccctgtc
     4741 caggagttca ctgtgcctgg gagcaagtct acagctacca tcagcggcct taaacctgga
     4801 gttgattata ccatcactgt gtatgctgtc actggccgtg gagacagccc cgcaagcagc
     4861 aagccaattt ccattaatta ccgaacagaa attgacaaac catcccagat gcaagtgacc
     4921 gatgttcagg acaacagcat tagtgtcaag tggctgcctt caagttcccc tgttactggt
     4981 tacagagtaa ccaccactcc caaaaatgga ccaggaccaa caaaaactaa aactgcaggt
     5041 ccagatcaaa cagaaatgac tattgaaggc ttgcagccca cagtggagta tgtggttagt
     5101 gtctatgctc agaatccaag cggagagagt cagcctctgg ttcagactgc agtaaccaac
     5161 attgatcgcc ctaaaggact ggcattcact gatgtggatg tcgattccat caaaattgct
     5221 tgggaaagcc cacaggggca agtttccagg tacagggtga cctactcgag ccctgaggat
     5281 ggaatccatg agctattccc tgcacctgat ggtgaagaag acactgcaga gctgcaaggc
     5341 ctcagaccgg gttctgagta cacagtcagt gtggttgcct tgcacgatga tatggagagc
     5401 cagcccctga ttggaaccca gtccacagct attcctgcac caactgacct gaagttcact
     5461 caggtcacac ccacaagcct gagcgcccag tggacaccac ccaatgttca gctcactgga
     5521 tatcgagtgc gggtgacccc caaggagaag accggaccaa tgaaagaaat caaccttgct
     5581 cctgacagct catccgtggt tgtatcagga cttatggtgg ccaccaaata tgaagtgagt
     5641 gtctatgctc ttaaggacac tttgacaagc agaccagctc agggtgttgt caccactctg
     5701 gagaatgtca gcccaccaag aagggctcgt gtgacagatg ctactgagac caccatcacc
     5761 attagctgga gaaccaagac tgagacgatc actggcttcc aagttgatgc cgttccagcc
     5821 aatggccaga ctccaatcca gagaaccatc aagccagatg tcagaagcta caccatcaca
     5881 ggtttacaac caggcactga ctacaagatc tacctgtaca ccttgaatga caatgctcgg
     5941 agctcccctg tggtcatcga cgcctccact gccattgatg caccatccaa cctgcgtttc
     6001 ctggccacca cacccaattc cttgctggta tcatggcagc cgccacgtgc caggattacc
     6061 ggctacatca tcaagtatga gaagcctggg tctcctccca gagaagtggt ccctcggccc
     6121 cgccctggtg tcacagaggc tactattact ggcctggaac cgggaaccga atatacaatt
     6181 tatgtcattg ccctgaagaa taatcagaag agcgagcccc tgattggaag gaaaaagaca
     6241 gacgagcttc cccaactggt aacccttcca caccccaatc ttcatggacc agagatcttg
     6301 gatgttcctt ccacagttca aaagacccct ttcgtcaccc accctgggta tgacactgga
     6361 aatggtattc agcttcctgg cacttctggt cagcaaccca gtgttgggca acaaatgatc
     6421 tttgaggaac atggttttag gcggaccaca ccgcccacaa cggccacccc cataaggcat
     6481 aggccaagac catacccgcc gaatgtagga caagaagctc tctctcagac aaccatctca
     6541 tgggccccat tccaggacac ttctgagtac atcatttcat gtcatcctgt tggcactgat
     6601 gaagaaccct tacagttcag ggttcctgga acttctacca gtgccactct gacaggcctc
     6661 accagaggtg ccacctacaa catcatagtg gaggcactga aagaccagca gaggcataag
     6721 gttcgggaag aggttgttac cgtgggcaac tctgtcaacg aaggcttgaa ccaacctacg
     6781 gatgactcgt gctttgaccc ctacacagtt tcccattatg ccgttggaga tgagtgggaa
     6841 cgaatgtctg aatcaggctt taaactgttg tgccagtgct taggctttgg aagtggtcat
     6901 ttcagatgtg attcatctag atggtgccat gacaatggtg tgaactacaa gattggagag
     6961 aagtgggacc gtcagggaga aaatggccag atgatgagct gcacatgtct tgggaacgga
     7021 aaaggagaat tcaagtgtga ccctcatgag gcaacgtgtt acgatgatgg gaagacatac
     7081 cacgtaggag aacagtggca gaaggaatat ctcggtgcca tttgctcctg cacatgcttt
     7141 ggaggccagc ggggctggcg ctgtgacaac tgccgcagac ctgggggtga acccagtccc
     7201 gaaggcacta ctggccagtc ctacaaccag tattctcaga gataccatca gagaacaaac
     7261 actaatgtta attgcccaat tgagtgcttc atgcctttag atgtacaggc tgacagagaa
     7321 gattcccgag agtaaatcat ctttccaatc cagaggaaca agcatgtctc tctgccaaga
     7381 tccatctaaa ctggagtgat gttagcagac ccagcttaga gttcttcttt ctttcttaag
     7441 ccctttgctc tggaggaagt tctccagctt cagctcaact cacagcttct ccaagcatca
     7501 ccctgggagt ttcctgaggg ttttctcata aatgagggct gcacattgcc tgttctgctt
     7561 cgaagtattc aataccgctc agtattttaa atgaagtgat tctaagattt ggtttgggat
     7621 caataggaaa gcatatgcag ccaaccaaga tgcaaatgtt ttgaaatgat atgaccaaaa
     7681 ttttaagtag gaaagtcacc caaacacttc tgctttcact taagtgtctg gcccgcaata
     7741 ctgtaggaac aagcatgatc ttgttactgt gatattttaa atatccacag tactcacttt
     7801 ttccaaatga tcctagtaat tgcctagaaa tatctttctc ttacctgtta tttatcaatt
     7861 tttcccagta tttttatacg gaaaaaattg tattgaaaac acttagtatg cagttgataa
     7921 gaggaatttg gtataattat ggtgggtgat tattttttat actgtatgtg ccaaagcttt
     7981 actactgtgg aaagacaact gttttaataa aagatttaca ttccaca
//



Revised: July 5, 2002.
 
 


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1: NM_001810. Homo sapiens cent...[gi:22203108] Links  


LOCUS       CENPB                   1800 bp    mRNA    linear   PRI 07-SEP-2002
DEFINITION  Homo sapiens centromere protein B, 80kDa (CENPB), mRNA.
ACCESSION   NM_001810
VERSION     NM_001810.3  GI:22203108
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1800)
  AUTHORS   Earnshaw,W.C., Sullivan,K.F., Machlin,P.S., Cooke,C.A.,
            Kaiser,D.A., Pollard,T.D., Rothfield,N.F. and Cleveland,D.W.
  TITLE     Molecular cloning of cDNA for CENP-B, the major human centromere
            autoantigen
  JOURNAL   J. Cell Biol. 104 (4), 817-829 (1987)
  MEDLINE   87166180
   PUBMED   2435739
REFERENCE   2  (bases 1 to 1800)
  AUTHORS   Sullivan,K.F. and Glass,C.A.
  TITLE     CENP-B is a highly conserved mammalian centromere protein with
            homology to the helix-loop-helix family of proteins
  JOURNAL   Chromosoma 100 (6), 360-370 (1991)
  MEDLINE   91372020
   PUBMED   1893793
REFERENCE   3  (bases 1 to 1800)
  AUTHORS   Yoda,K., Kitagawa,K., Masumoto,H., Muro,Y. and Okazaki,T.
  TITLE     A human centromere protein, CENP-B, has a DNA binding domain
            containing four potential alpha helices at the NH2 terminus, which
            is separable from dimerizing activity
  JOURNAL   J. Cell Biol. 119 (6), 1413-1427 (1992)
  MEDLINE   93107144
   PUBMED   1469042
REFERENCE   4  (bases 1 to 1800)
  AUTHORS   Sugimoto,K., Yata,H. and Himeno,M.
  TITLE     Mapping of the human CENP-B gene to chromosome 20 and the CENP-C
            gene to chromosome 12 by a rapid cycle DNA amplification procedure
  JOURNAL   Genomics 17 (1), 240-242 (1993)
  MEDLINE   94010896
   PUBMED   8406460
REFERENCE   5  (bases 1 to 1800)
  AUTHORS   Seki,N., Saito,T., Kitagawa,K., Masumoto,H., Okazaki,T. and
            Hori,T.A.
  TITLE     Mapping of the human centromere protein B gene (CENPB) to
            chromosome 20p13 by fluorescence in situ hybridization
  JOURNAL   Genomics 24 (1), 187-188 (1994)
  MEDLINE   95203879
   PUBMED   7896278
REFERENCE   6  (bases 1 to 1800)
  AUTHORS   Kitagawa,K., Masumoto,H., Ikeda,M. and Okazaki,T.
  TITLE     Analysis of protein-DNA and protein-protein interactions of
            centromere protein B (CENP-B) and properties of the DNA-CENP-B
            complex in the cell cycle
  JOURNAL   Mol. Cell. Biol. 15 (3), 1602-1612 (1995)
  MEDLINE   95166245
   PUBMED   7862152
REFERENCE   7  (bases 1 to 1800)
  AUTHORS   Ando,S., Yang,H., Nozaki,N., Okazaki,T. and Yoda,K.
  TITLE     CENP-A, -B, and -C chromatin complex that contains the I-type
            alpha-satellite array constitutes the prekinetochore in HeLa cells
  JOURNAL   Mol. Cell. Biol. 22 (7), 2229-2241 (2002)
  MEDLINE   21881955
   PUBMED   11884609
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL109804.41.
            On Aug 10, 2002 this sequence version replaced gi:22202609.
            Summary: This gene product is a highly conserved protein associated
            with the centromere. It is a DNA-binding protein containing a
            helix-loop-helix DNA binding motif at the N-terminus, and a
            dimerization domain at the C-terminus. The DNA binding domain
            recognizes and binds a 17-bp sequence (CENP-B box) in the
            centromeric satellite DNA. This protein is proposed to play an
            important role in the assembly of specific centromere structures in
            interphase nuclei and on mitotic chromosomes. It is also considered
            a major centromere autoantigen recognized by sera from patients
            with anti-centromere antibodies.
FEATURES             Location/Qualifiers
     source          1..1800
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
                     /cell_type="peripheral lymphocytes"
                     /clone_lib="lambda EMBL 3 genomic"
     gene            1..1800
                     /gene="CENPB"
                     /db_xref="LocusID:1059"
                     /db_xref="MIM:117140"
     CDS             1..1800
                     /gene="CENPB"
                     /note="centromere protein B (80kD); centromere autoantigen
                     B"
                     /codon_start=1
                     /product="centromere protein B"
                     /protein_id="NP_001801.1"
                     /db_xref="GI:21735415"
                     /db_xref="LocusID:1059"
                     /db_xref="MIM:117140"
                     /translation="MGPKRRQLTFREKSRIIQEVEENPDLRKGEIARRFNIPPSTLST
                     ILKNKRAILASERKYGVASTCRKTNKLSPYDKLEGLLIAWFQQIRAAGLPVKGIILKE
                     KALRIAEELGMDDFTASNGWLDRFRRRHGVVSCSGVARARARNAAPRTPAAPASPAAV
                     PSEGSGGSTTGWRAREEQPPSVAEGYASQDVFSATETSLWYDFLPDQAAGLCGGDGRP
                     RQATQRLSVLLCANADGSEKLPPLVAGKSAKPRAGQAGLPCDYTANSKGGVTTQALAK
                     YLKALDTRMAAESRRVLLLAGRLAAQSLDTSGLRHVQLAFFPPGTVHPLERGVVQQVK
                     GHYRQAMLLKAMAALEGQDPSGLQLGLTEALHFVAAAWQAVEPSDIAACFREAGFGGG
                     PNATITTSLKSEGEEEEEEEEEEEEEEGEGEEEEEEGEEEEEEGGEGEELGEEEEVEE
                     EGDVDSDEEEEEDEESSSEGLEAEDWAQGVVEAGGSFGAYGAQEEAQCPTLHFLEGGE
                     DSDSDSEEEDDEEEDDEDEDDDDDEEDGDEVPVPSFGEAMAYFAMVKRYLTSFPIDDR
                     VQSHILHLEHDLVHVTRKNHARQAGVRGLGHQS"
     misc_feature    7..402
                     /gene="CENPB"
                     /note="Region: pfam03221, Transposase_Tc5, Tc5
                     transposase"
     misc_feature    220..405
                     /gene="CENPB"
                     /note="Region: smart00674, CENPB, Putative DNA-binding
                     domain in centromere protein B, mouse jerky and
                     transposases"
     misc_feature    610..1173
                     /gene="CENPB"
                     /note="Region: pfam03184, CENP-B, CENP-B protein.
                     Centromere Protein B (CENP-B) is a DNA-binding protein
                     localized to the centromere. Within the N-terminal 125
                     residues, there is a DNA-binding domain, which binds to a
                     corresponding 17bp CENP-B box sequence. In the C-terminal
                     59 residues, CENP-B has a dimerization domain. CENP-B
                     dimers either bind two separate DNA molecules or
                     alternatively, they may bind two CENP-B boxes on one DNA
                     molecule, with the intervening stretch of DNA forming a
                     loop structure. The CENP-B DNA-binding domain consists of
                     two repeating units, RP1 and RP2. RP1 has been shown to
                     consist of four helices in a helix- turn-helix structure"
     conflict        1748
                     /gene="CENPB"
                     /citation=[1]
                     /replace="t"
     conflict        1774
                     /gene="CENPB"
                     /citation=[1]
                     /replace="c"
     conflict        1778
                     /gene="CENPB"
                     /citation=[1]
                     /replace="t"
BASE COUNT      359 a    515 c    654 g    272 t
ORIGIN      
        1 atgggcccca agaggcgaca gctgacgttc cgggagaagt cacggatcat ccaggaggtg
       61 gaggagaatc cggacctgcg caagggcgag atcgcgcggc gcttcaacat cccgccgtcc
      121 acgctgagca cgatcctgaa gaacaagcgc gccatcctgg cgtcggagcg caagtacggg
      181 gtggcctcca cctgccgcaa gaccaacaag ctgtctccct acgacaagct cgagggcttg
      241 ctcatcgcct ggttccagca gatccgcgcc gccggcctgc cggtcaaggg catcatcctc
      301 aaggagaagg cgctgcgcat agccgaggag ctgggcatgg acgacttcac cgcctccaac
      361 ggctggctgg accgcttccg ccggcgccac ggcgtggtgt cctgcagcgg cgtggcccgc
      421 gcccgcgcgc gaaacgctgc cccccgcacc ccggcggcgc ctgccagtcc ggccgcggtg
      481 ccctcggagg gcagtggcgg gagcactact ggttggcgcg ctcgggagga gcagccgccg
      541 tcggtggccg agggctacgc ctcgcaggac gtgttcagcg ccaccgagac cagtctatgg
      601 tacgacttcc tgcccgacca ggccgcgggg ctgtgcggag gcgacggacg gccgcgtcaa
      661 gccacccagc gcctgagcgt cctgctatgc gccaatgccg acggcagcga gaagctgccc
      721 ccgctggtgg ccggcaagtc ggccaagccc cgcgcaggcc aagccggcct gccctgcgac
      781 tacaccgcca actccaaggg tggtgtcacc acccaggccc tggccaagta cttgaaggcc
      841 ttggacaccc gaatggctgc agagtctcgc cgggtcctgc tgttggccgg ccgcttggct
      901 gcccagtcct tggacacctc gggcctgcgg catgtgcagc tggccttctt ccctcccggc
      961 accgtgcatc cgctggagag gggagtggtc cagcaggtga agggccacta ccgccaggcc
     1021 atgctgctca aggccatggc cgcgctagag ggccaggatc cctcaggcct gcagctgggt
     1081 ctcacggagg ccctgcactt tgtggctgcc gcctggcagg cagtggagcc ttcggacata
     1141 gccgcctgct ttcgtgaggc tggctttggg ggtggcccta atgccaccat caccacttcc
     1201 ctcaagagtg agggagagga agaggaggag gaggaggaag aagaggagga ggaagagggt
     1261 gaaggagagg aagaggagga ggaaggggag gaggaggagg aggaaggggg ggaaggagag
     1321 gaattggggg aggaagagga ggtggaggag gagggtgatg ttgatagtga tgaagaagag
     1381 gaggaagatg aggagagctc ctcggagggc ttggaggctg aggactgggc ccagggagta
     1441 gtggaggccg gtggcagctt cggggcttat ggtgcccagg aggaagccca gtgccctact
     1501 ctgcatttcc tggaaggtgg ggaggactct gattcagaca gtgaggaaga ggacgatgag
     1561 gaagaggatg atgaagatga agacgacgat gatgatgagg aggatggtga tgaggtgcct
     1621 gtacccagct ttggggaggc catggcttac tttgccatgg tcaagaggta cctgacctcc
     1681 ttccccattg atgaccgcgt gcagagccac atcctccact tggaacacga tctggttcat
     1741 gtgaccagga agaaccacgc caggcaggcg ggagttcgag gtcttggaca tcaaagctga
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_002023. Homo sapiens fibr...[gi:5016093] Links  


LOCUS       FMOD                    2863 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens fibromodulin (FMOD), mRNA.
ACCESSION   NM_002023
VERSION     NM_002023.2  GI:5016093
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2863)
  AUTHORS   Antonsson,P., Heinegard,D. and Oldberg,A.
  TITLE     Structure and deduced amino acid sequence of the human fibromodulin
            gene
  JOURNAL   Biochim. Biophys. Acta 1174 (2), 204-206 (1993)
  MEDLINE   93363641
   PUBMED   8357838
REFERENCE   2  (bases 1 to 2863)
  AUTHORS   Roughley,P.J. and Lee,E.R.
  TITLE     Cartilage proteoglycans: structure and potential functions
  JOURNAL   Microsc. Res. Tech. 28 (5), 385-397 (1994)
  MEDLINE   95003201
   PUBMED   7919526
REFERENCE   3  (bases 1 to 2863)
  AUTHORS   Hildebrand,A., Romaris,M., Rasmussen,L.M., Heinegard,D.,
            Twardzik,D.R., Border,W.A. and Ruoslahti,E.
  TITLE     Interaction of the small interstitial proteoglycans biglycan,
            decorin and fibromodulin with transforming growth factor beta
  JOURNAL   Biochem. J. 302 (Pt 2), 527-534 (1994)
  MEDLINE   94379985
   PUBMED   8093006
REFERENCE   4  (bases 1 to 2863)
  AUTHORS   Sztrolovics,R., Chen,X.N., Grover,J., Roughley,P.J. and
            Korenberg,J.R.
  TITLE     Localization of the human fibromodulin gene (FMOD) to chromosome
            1q32 and completion of the cDNA sequence
  JOURNAL   Genomics 23 (3), 715-717 (1994)
  MEDLINE   95154849
   PUBMED   7851907
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X75546.1 and U05291.1.
            On Jun 8, 1999 this sequence version replaced gi:4503762.
            Summary: Fibromodulin is a member of a family of small interstitial
            proteoglycans, containing a central region composed of leucine-rich
            repeats with 4 keratan sulfate chains flanked by disulfide-bonded
            terminal domains. It may participate in the assembly of the
            extracellular matrix as it interacts with type I and type II
            collagen fibrils and inhibits fibrillogenesis in vitro. It may also
            regulate TGF-beta activities by sequestering TGF-beta into the
            extracellular matrix.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2863
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32"
     gene            1..2863
                     /gene="FMOD"
                     /db_xref="LocusID:2331"
                     /db_xref="MIM:600245"
     CDS             21..1151
                     /gene="FMOD"
                     /codon_start=1
                     /product="fibromodulin precursor"
                     /protein_id="NP_002014.1"
                     /db_xref="GI:4503763"
                     /db_xref="LocusID:2331"
                     /db_xref="MIM:600245"
                     /translation="MQWASLLLLAGLFSLSQAQYEDDPHWWFHYLRSQQSTYYDPYDP
                     YPYETYEPYPYGVDEGPAYTYGSPSPPDPRDCPQECDCPPNFLTAMYCDNRNLKYLPF
                     VPSRMKYVYFQNNQITSIQEGVFDNATGLLWIALHGNQITSDKVGRKVFSKLRHLERL
                     YLDHNNLTRMPGPLPRSLRELHLDHNQISRVPNNALEGLENLTALYLQHDEIQEVGSS
                     MRGLRSLILLDLSYNHLRKVPDGLPSALEQLYMEHNNVYTVPDSYFRGAPKLLYVRLS
                     HNSLTNNGLASNTFNSSSLLELDLSYNQLQKIPPVNTNLENLYLQGNRINEFSISSFC
                     TVVDVVNFSKLQVVRLDGNEIKRSAMPADAPLCLRLASLIEI"
     sig_peptide     21..74
                     /gene="FMOD"
     mat_peptide     75..1148
                     /gene="FMOD"
                     /product="fibromodulin"
     misc_feature    246..347
                     /gene="FMOD"
                     /note="LRRNT; Region: Leucine rich repeat N-terminal
                     domain"
                     /db_xref="CDD:LRRNT"
     misc_feature    246..335
                     /gene="FMOD"
                     /note="LRRNT; Region: Leucine rich repeat N-terminal
                     domain"
                     /db_xref="CDD:pfam01462"
     variation       complement(1403)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3738022"
     variation       complement(2653)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:4605"
     variation       complement(2739)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3766910"
     variation       2739
                     /gene="FMOD"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:7208"
     polyA_signal    2841..2846
                     /gene="FMOD"
     polyA_site      2863
                     /gene="FMOD"
BASE COUNT      676 a    829 c    698 g    660 t
ORIGIN      
        1 cggaattcaa gaaacacaaa atgcagtggg cgtccctcct gctgctggca gggctcttct
       61 ccctctccca ggcccagtat gaagatgacc ctcattggtg gttccactac ctccgcagcc
      121 agcagtccac ctactacgat ccctatgacc cttacccgta tgagacctac gagccttacc
      181 cctatggggt ggatgaaggg ccagcctaca cctacggctc tccatcccct ccagatcccc
      241 gcgactgccc ccaggaatgc gactgcccac ccaacttcct cacggccatg tactgtgaca
      301 atcgcaacct caagtacctg cccttcgttc cctcccgcat gaagtatgtg tacttccaga
      361 acaaccagat cacctccatc caggaaggcg tctttgacaa tgccacaggg ctgctctgga
      421 ttgctctcca cggcaaccag atcaccagtg ataaggtggg caggaaggtc ttctccaagc
      481 tgaggcacct ggagaggctg tacctggacc acaacaacct gacccggatg cccggtcccc
      541 tgcctcgatc cctgagagag ctccatctcg accacaacca gatctcacgg gtccccaaca
      601 atgctctgga ggggctggag aacctcacgg ccttgtacct ccaacacgat gagatccagg
      661 aagtgggcag ttccatgagg ggcctccggt cactgatctt gctggacctg agttataacc
      721 accttcggaa ggtgcctgat gggctgccct cagctcttga gcagctgtac atggagcaca
      781 acaatgtcta caccgtcccc gatagctact tccggggggc gcccaagctg ctgtatgtgc
      841 ggctgtccca caacagtcta accaacaatg gcctggcctc caacaccttc aattccagca
      901 gcctccttga gctagacctc tcctacaacc agctgcagaa gatcccccca gtcaacacca
      961 acctggagaa cctctacctc caaggcaata ggatcaatga gttctccatc agcagcttct
     1021 gcaccgtggt ggacgtcgtg aacttctcca agctgcaggt cgtgcgcctg gacgggaacg
     1081 agatcaagcg cagcgccatg cctgccgacg cgcccctctg cctgcgcctt gccagcctca
     1141 tcgagatctg agcagccctg gcaccgggta ctgggcggag agcccccgtg gcatttggct
     1201 tgatggtttg gtttggctta tggaagatct gggacagacc gtgtgacaga agtccacggg
     1261 caccctctgt agtcttcttt cctgtaggtg gggttagggg gggcgatcag ggacaggcag
     1321 ccttctgctg aggacatagg cagaagctca ctcttttcca gggacagaag tggtggtaga
     1381 tggaaggatc cctggatgtt ccaaccccat aaatctcacg gctcttaagt tcttcccaat
     1441 gatctgaggt catggaactt caaaagtggc atgggcaata gtatataacc atacttttct
     1501 aacaatccct ggctgtctgt gagcagcact tgacagctct ccctctgtgc tgggctggtc
     1561 gtgcagttac tctgggctcc catttgttgc ttctcaaaat atacctcttg cccagctgcc
     1621 tcttctgaaa tccacttcac ccactccact ttcctccaca gatgcctctt ctgtgcctta
     1681 agcagagtca ggagacccca aggcatgtga gcatctgccc agcaacctgt ggagacaacc
     1741 cacactgtgt ctgagggtga aaggacacca ggagtcactt ctatacctcc ctaacctcac
     1801 ccctggaaag ccaccagatt ggaggtcacc agcatgatga taatattcat gacctgatgt
     1861 gggaggagac agccaacctc aggcttagat caatgtatag ggctatattt tggcagctgg
     1921 gtagctcttt gaaggtggat aagacttcag aagaggaaag gccagacttt gcttaccatc
     1981 agcatctgca atgggccaaa cacacctcaa attggctgag ttgagaaagc agccccagta
     2041 gttccattct tgcccagcac tttctgcatt ccaaacagca tcctacctgg gtttttatcc
     2101 acaaaggtag cggccacatg gtttttaaag tatgagaaac acagtttgtc ctctcctttt
     2161 atccaagcag gaagattcta tatcctgatg gtagagacag actccaggca gccctggact
     2221 tgctagccca aagaaggagg atgtggttaa tctgtttcac ctggtttgtc ctaaggccat
     2281 agttaaaaag taccagctct ggctggggtc cgtgaagccc aggccaggca gccaaatctt
     2341 gcctgtgctg ggcatacaac cctctgcttt cacatctctg agctatatcc tcattagtga
     2401 aggtggcttt tgctttatag tttggctggg gagcacttaa ttcttcccat ttcaaaaggt
     2461 aatgttgcct ggggcttaac ccacctgccc tttgggcaag gttgggacaa agccatctgg
     2521 gcagtcaggg gcaaggactg ttggaggaga gttagcccaa gtataggctc tgcccagatg
     2581 ccatcacatc cctgatactg tgtatgcttt gaagcacctt ccctgagaag ggaagagggg
     2641 atctttggac tacgttcttg gctccagacc tggaatccac aaaagccaaa ccagctcatt
     2701 tcaacaaagg agctccgatg tgaggggcaa ggctgccccc tgccccaggg ctcttcagaa
     2761 agcatctgca tgtgaacacc atcatgcctt tataaaggat ccttattaca ggaaaagcat
     2821 gagtggtggc taacctgacc aataaagtta ttttatgatt gcc
//



Revised: July 5, 2002.
 
 


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1: NM_012117. Homo sapiens chro...[gi:6912291] Links  


LOCUS       CBX5                     876 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens chromobox homolog 5 (HP1 alpha homolog, Drosophila)
            (CBX5), mRNA.
ACCESSION   NM_012117
VERSION     NM_012117.1  GI:6912291
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 876)
  AUTHORS   Ye,Q. and Worman,H.J.
  TITLE     Interaction between an integral protein of the nuclear envelope
            inner membrane and human chromodomain proteins homologous to
            Drosophila HP1
  JOURNAL   J. Biol. Chem. 271 (25), 14653-14656 (1996)
  MEDLINE   96278941
   PUBMED   8663349
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from S62077.1.
            Summary: Heterochromatin protein-1 (HP1) is a methyl-lysine binding
            protein localized at heterochromatin sites, where it mediates gene
            silencing.[supplied by OMIM].
FEATURES             Location/Qualifiers
     source          1..876
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q12"
     gene            1..876
                     /gene="CBX5"
                     /note="HP1; HP1-ALPHA; HP1HS-ALPHA"
                     /db_xref="LocusID:23468"
                     /db_xref="MIM:604478"
     variation       98
                     /gene="CBX5"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3204646"
     variation       98
                     /gene="CBX5"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1140681"
     CDS             135..710
                     /gene="CBX5"
                     /note="This sequence comes from Fig. 3; chromobox homolog
                     5 (Drosophila HP1 alpha)"
                     /codon_start=1
                     /product="chromobox homolog 5 (HP1 alpha homolog,
                     Drosophila)"
                     /protein_id="NP_036249.1"
                     /db_xref="GI:6912292"
                     /db_xref="LocusID:23468"
                     /db_xref="MIM:604478"
                     /translation="MGKKTKRTADSSSSEDEEEYVVEKVLDRRVVKGQVEYLLKWKGF
                     SEEHNTWEPEKNLDCPELISEFMKKYKKMKEGENNKPREKSESNKRKSNFSNSADDIK
                     SKKKREQSNDIARGFERGLEPEKIIGATDSCGDLMFLMKWKDTDEADLVLAKEANVKC
                     PQIVIAFYEERLTWHAYPEDAENKEKETAKS"
     misc_feature    192..347
                     /gene="CBX5"
                     /note="Region: smart00298, CHROMO, Chromatin organization
                     modifier domain"
     misc_feature    192..305
                     /gene="CBX5"
                     /note="Region: pfam00385, chromo, 'chromo' (CHRromatin
                     Organization MOdifier) domain"
     misc_feature    477..662
                     /gene="CBX5"
                     /note="Region: smart00300, ChSh, Chromo Shadow Domain"
     misc_feature    489..659
                     /gene="CBX5"
                     /note="Region: pfam01393, Chromo_shadow, Chromo shadow
                     domain. This domain is distantly related to pfam00385.
                     This domain is always found in association with a chromo
                     domain"
BASE COUNT      308 a    158 c    221 g    189 t
ORIGIN      
        1 gcgcagaagc ggcggcggtg gtggcttgtg gtgcggcctc accatacagg aacagggcag
       61 acgttagcgt gagtgatcac tctcaatccc ggggacctgg tggccttagt ctttcaggtg
      121 gaacggtgtg cgacatggga aagaaaacca agcggacagc tgacagttct tcttcagagg
      181 atgaggagga gtatgttgtg gagaaggtgc tagacaggcg cgtggttaag ggacaagtgg
      241 aatatctact gaagtggaaa ggcttttctg aggagcacaa tacttgggaa cctgagaaaa
      301 acttggattg ccctgagcta atttctgaat ttatgaaaaa gtataagaag atgaaggagg
      361 gtgaaaataa taaacccagg gagaagtcag aaagtaacaa gaggaaatcc aatttctcaa
      421 acagtgccga tgacatcaaa tctaaaaaaa agagagagca gagcaatgat atcgctcggg
      481 gctttgagag aggactggaa ccagaaaaga tcattggggc aacagattcc tgtggtgatt
      541 taatgttcct aatgaaatgg aaagacacag atgaagctga cctggttctt gcaaaagaag
      601 ctaatgtgaa atgtccacaa attgtgatag cattttatga agagagactg acatggcatg
      661 catatcctga ggatgcggaa aacaaagaga aagaaacagc aaagagctaa aggaggggat
      721 ggtctctgtc atttctcttt gtacataata cattcacctc cctgcctcct ctcctttcta
      781 cccacccctt tctatcctaa acacatccat aaaaaatgtg cttatcactg tgctccacaa
      841 aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaa
//



Revised: July 5, 2002.
 
 


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1: NM_000385. Homo sapiens aqua...[gi:4755121] Links  


LOCUS       AQP1                    1662 bp    mRNA    linear   PRI 07-SEP-2002
DEFINITION  Homo sapiens aquaporin 1 (channel-forming integral protein, 28kDa)
            (AQP1), mRNA.
ACCESSION   NM_000385
VERSION     NM_000385.2  GI:4755121
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1662)
  AUTHORS   Denker,B.M., Smith,B.L., Kuhajda,F.P. and Agre,P.
  TITLE     Identification, purification, and partial characterization of a
            novel Mr 28,000 integral membrane protein from erythrocytes and
            renal tubules
  JOURNAL   J. Biol. Chem. 263 (30), 15634-15642 (1988)
  MEDLINE   89008472
   PUBMED   3049610
REFERENCE   2  (bases 1 to 1662)
  AUTHORS   Preston,G.M. and Agre,P.
  TITLE     Isolation of the cDNA for erythrocyte integral membrane protein of
            28 kilodaltons: member of an ancient channel family
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 88 (24), 11110-11114 (1991)
  MEDLINE   92107900
   PUBMED   1722319
REFERENCE   3  (bases 1 to 1662)
  AUTHORS   Moon,C., Preston,G.M., Griffin,C.A., Jabs,E.W. and Agre,P.
  TITLE     The human aquaporin-CHIP gene. Structure, organization, and
            chromosomal localization
  JOURNAL   J. Biol. Chem. 268 (21), 15772-15778 (1993)
  MEDLINE   93340184
   PUBMED   8340403
REFERENCE   4  (bases 1 to 1662)
  AUTHORS   Li,X., Yu,H. and Koide,S.S.
  TITLE     The water channel gene in human uterus
  JOURNAL   Biochem. Mol. Biol. Int. 32 (2), 371-377 (1994)
  MEDLINE   94290349
   PUBMED   7517253
REFERENCE   5  (bases 1 to 1662)
  AUTHORS   Knepper,M.A.
  TITLE     The aquaporin family of molecular water channels
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 91 (14), 6255-6258 (1994)
  MEDLINE   94294360
   PUBMED   7517546
REFERENCE   6  (bases 1 to 1662)
  AUTHORS   Preston,G.M., Smith,B.L., Zeidel,M.L., Moulds,J.J. and Agre,P.
  TITLE     Mutations in aquaporin-1 in phenotypically normal humans without
            functional CHIP water channels
  JOURNAL   Science 265 (5178), 1585-1587 (1994)
  MEDLINE   94360246
   PUBMED   7521540
REFERENCE   7  (bases 1 to 1662)
  AUTHORS   Smith,B.L., Preston,G.M., Spring,F.A., Anstee,D.J. and Agre,P.
  TITLE     Human red cell aquaporin CHIP. I. Molecular characterization of ABH
            and Colton blood group antigens
  JOURNAL   J. Clin. Invest. 94 (3), 1043-1049 (1994)
  MEDLINE   94365170
   PUBMED   7521882
REFERENCE   8  (bases 1 to 1662)
  AUTHORS   Keen,T.J., Inglehearn,C.F., Patel,R.J., Green,E.D., Peluso,D.C. and
            Bhattacharya,S.S.
  TITLE     Localization of the aquaporin 1 (AQP1) gene within a YAC contig
            containing the polymorphic markers D7S632 and D7S526
  JOURNAL   Genomics 25 (2), 599-600 (1995)
  MEDLINE   95309937
   PUBMED   7540589
REFERENCE   9  (bases 1 to 1662)
  AUTHORS   Ruiz,A. and Bok,D.
  TITLE     Characterization of the 3' UTR sequence encoded by the AQP-1 gene
            in human retinal pigment epithelium
  JOURNAL   Biochim. Biophys. Acta 1282 (2), 174-178 (1996)
  MEDLINE   96326579
   PUBMED   8703970
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U41517.1 and M77829.1.
            On May 6, 1999 this sequence version replaced gi:4502176.
            Summary: Aquaporin 1 (AQP1) ia a molecular water channel protein.
            Aquaporins are a family of small integral membrane proteins related
            to the major intrinsic protein (MIP or AQP0).  Aquaporin 1 a
            homotetramer with 6 bilayer spanning domains and and
            N-glycosylation sites.  The protein physically resembles channel
            proteins and is abundant in erythrocytes and renal tubes.  AQP1 is
            a possible candidate for disorders involving imbalance in ocular
            fluid movement.
FEATURES             Location/Qualifiers
     source          1..1662
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14"
     gene            1..1662
                     /gene="AQP1"
                     /note="CO; CHIP28; AQP-CHIP"
                     /db_xref="LocusID:358"
                     /db_xref="MIM:107776"
                     /db_xref="MIM:110450"
     CDS             39..848
                     /gene="AQP1"
                     /note="channel-forming integral membrane protein;
                     aquaporin 1 (channel-forming integral protein, 28kDa);
                     Aquaporin-1 (channel-forming integral protein, 28kDa);
                     Colton blood group"
                     /codon_start=1
                     /product="aquaporin 1"
                     /protein_id="NP_000376.1"
                     /db_xref="GI:4502177"
                     /db_xref="LocusID:358"
                     /db_xref="MIM:107776"
                     /db_xref="MIM:110450"
                     /translation="MASEFKKKLFWRAVVAEFLATTLFVFISIGSALGFKYPVGNNQT
                     AVQDNVKVSLAFGLSIATLAQSVGHISGAHLNPAVTLGLLLSCQISIFRALMYIIAQC
                     VGAIVATAILSGITSSLTGNSLGRNDLADGVNSGQGLGIEIIGTLQLVLCVLATTDRR
                     RRDLGGSAPLAIGLSVALGHLLAIDYTGCGINPARSFGSAVITHNFSNHWIFWVGPFI
                     GGALAVLIYDFILAPRSSDLTDRVKVWTSGQVEEYDLDADDINSRVEMKPK"
     misc_feature    48..719
                     /gene="AQP1"
                     /note="Region: pfam00230, MIP, Major intrinsic protein.
                     MIP (Major Intrinsic Protein) family proteins exhibit
                     essentially two distinct types of channel properties: (1)
                     specific water transport by the aquaporins, and (2) small
                     neutral solutes transport, such as glycerol by the
                     glycerol facilitators"
     variation       1425
                     /gene="AQP1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1049305"
     polyA_signal    1636..1641
                     /gene="AQP1"
     polyA_site      1661
                     /gene="AQP1"
BASE COUNT      320 a    502 c    474 g    366 t
ORIGIN      
        1 gcacccggca gcggtctcag gccaagcccc ctgccagcat ggccagcgag ttcaagaaga
       61 agctcttctg gagggcagtg gtggccgagt tcctggccac gaccctcttt gtcttcatca
      121 gcatcggttc tgccctgggc ttcaaatacc cggtggggaa caaccagacg gcggtccagg
      181 acaacgtgaa ggtgtcgctg gccttcgggc tgagcatcgc cacgctggcg cagagtgtgg
      241 gccacatcag cggcgcccac ctcaacccgg ctgtcacact ggggctgctg ctcagctgcc
      301 agatcagcat cttccgtgcc ctcatgtaca tcatcgccca gtgcgtgggg gccatcgtcg
      361 ccaccgccat cctctcaggc atcacctcct ccctgactgg gaactcgctt ggccgcaatg
      421 acctggctga tggtgtgaac tcgggccagg gcctgggcat cgagatcatc gggaccctcc
      481 agctggtgct atgcgtgctg gctactaccg accggaggcg ccgtgacctt ggtggctcag
      541 ccccccttgc catcggcctc tctgtagccc ttggacacct cctggctatt gactacactg
      601 gctgtgggat taaccctgct cggtcctttg gctccgcggt gatcacacac aacttcagca
      661 accactggat tttctgggtg gggccattca tcgggggagc cctggctgta ctcatctacg
      721 acttcatcct ggccccacgc agcagtgacc tcacagaccg cgtgaaggtg tggaccagcg
      781 gccaggtgga ggagtatgac ctggatgccg acgacatcaa ctccagggtg gagatgaagc
      841 ccaaatagaa ggggtctggc ccgggcatcc acgtaggggg caggggcagg ggcgggcgga
      901 gggaggggag gggtgaaatc catactgtag acactctgac aagctggcca aagtcacttc
      961 cccaagatct gccagacctg catggtcaag cctcttatgg gggtgtttct atctctttct
     1021 ttctctttct gtttcctggc ctcagagctt cctggggacc aagatttacc aattcaccca
     1081 ctcccttgaa gttgtggagg aggtgaaaga aagggaccca cctgctagtc gcccctcaga
     1141 gcatgatggg aggtgtgcca gaaagtcccc cctcgcccca aagttgctca ccgactcacc
     1201 tgcgcaagtg cctgggattc taccgtaatt gctttgtgcc tttgggcagg ccctccttct
     1261 tttcctaaca tgcaccttgc tcccaatggt gcttggaggg ggaagagatc ccaggaggtg
     1321 cagtggaggg ggcaagcttt gctccttcag ttctgcttgc tcccaagccc ctgacccgct
     1381 cggacttact gcctgacctt ggaatcgtcc ctatatcagg gcctgagtga cctccttctg
     1441 caaagtggca gggaccggca gagctctaca ggcctgcagc ccctaagtgc aaacacagca
     1501 tgggtccaga agacgtggtc tagaccaggg ctgctctttc cacttgccct gtgttctttc
     1561 cccaggggca tgactgtcgc cacacgcctc tgcatatatg tctctttgga gttggaattt
     1621 cattatatgt taagaaaata aaggaaaatg acttgtaagg tc
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_006705. Homo sapiens grow...[gi:9790905] Links  


LOCUS       GADD45G                 1078 bp    mRNA    linear   PRI 01-NOV-2000
DEFINITION  Homo sapiens growth arrest and DNA-damage-inducible, gamma
            (GADD45G), mRNA.
ACCESSION   NM_006705
VERSION     NM_006705.2  GI:9790905
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1078)
  AUTHORS   Beadling,C., Johnson,K.W. and Smith,K.A.
  TITLE     Isolation of interleukin 2-induced immediate-early genes
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 90 (7), 2719-2723 (1993)
  MEDLINE   93219355
   PUBMED   7681987
REFERENCE   2  (bases 1 to 1078)
  AUTHORS   Takekawa,M. and Saito,H.
  TITLE     A family of stress-inducible GADD45-like proteins mediate
            activation of the stress-responsive MTK1/MEKK4 MAPKKK
  JOURNAL   Cell 95 (4), 521-530 (1998)
  MEDLINE   99043506
   PUBMED   9827804
REFERENCE   3  (bases 1 to 1078)
  AUTHORS   Nakayama,K., Hara,T., Hibi,M., Hirano,T. and Miyajima,A.
  TITLE     A novel oncostatin M-inducible gene OIG37 forms a gene family with
            MyD118 and GADD45 and negatively regulates cell growth
  JOURNAL   J. Biol. Chem. 274 (35), 24766-24772 (1999)
  MEDLINE   99386956
   PUBMED   10455148
REFERENCE   4  (bases 1 to 1078)
  AUTHORS   Suzuki,M., Watanabe,T.K., Fujiwara,T., Nakamura,Yp.6., Takahashi,E.
            and Tanigami,A.
  TITLE     Molecular cloning, expression, and mapping of a novel human cDNA,
            GRP17, highly homologous to human gadd45 and murine MyD118
  JOURNAL   J. Hum. Genet. 44 (5), 300-303 (1999)
  MEDLINE   99426078
   PUBMED   10496071
REFERENCE   5  (bases 1 to 1078)
  AUTHORS   Gong R, Yu L, Zhang H, Tu Q, Zhao Y, Yang J, Xu Y and Zhao S.
  TITLE     Assignment of human GADD45G to chromosome 9q22.1-->q22.3 by
            radiation hybrid mapping
  JOURNAL   Cytogenet. Cell Genet. 88 (1-2), 95-96 (2000)
  MEDLINE   20237539
   PUBMED   10773677
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF079806.1 and AF265659.1.
            On Aug 10, 2000 this sequence version replaced gi:5729835.
            Summary: This gene is a member of a group of genes whose transcript
            levels are increased following stressful growth arrest conditions
            and treatment with DNA-damaging agents. The protein encoded by this
            gene responds to environmental stresses by mediating activation of
            the p38/JNK pathway via MTK1/MEKK4 kinase. The GADD45G is highly
            expressed in placenta.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1078
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.1-q22.2"
     gene            1..1078
                     /gene="GADD45G"
                     /note="CR6; GRP17; GADD45-GAMMA"
                     /db_xref="LocusID:10912"
                     /db_xref="MIM:604949"
     CDS             110..589
                     /gene="GADD45G"
                     /note="MyD118/Gadd45 related protein; gadd-related
                     protein, 17 kD"
                     /codon_start=1
                     /product="growth arrest and DNA-damage-inducible, gamma"
                     /protein_id="NP_006696.1"
                     /db_xref="GI:5729836"
                     /db_xref="LocusID:10912"
                     /db_xref="MIM:604949"
                     /translation="MTLEEVRGQDTVPESTARMQGAGKALHELLLSAQRQGCLTAGVY
                     ESAKVLNVDPDNVTFCVLAAGEEDEGDIALQIHFTLIQAFCCENDIDIVRVGDVQRLA
                     AIVGAGEEAGAPGDLHCILISNPNEDAWKDPALEKLSLFCEESRSVNDWVPSITLPE"
     variation       complement(605)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:8252"
     variation       854
                     /gene="GADD45G"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3138506"
     polyA_signal    1047..1052
                     /gene="GADD45G"
     polyA_site      1063
                     /gene="GADD45G"
BASE COUNT      200 a    297 c    382 g    199 t
ORIGIN      
        1 cactcgctgg tggtgggtgc gccgtgctga gctctggctg tcagtgtgtt cgcccgcgtc
       61 ccctccgcgc tctccgcttg tggataacta gctgctggtt gatcgcacta tgactctgga
      121 agaagtccgc ggccaggaca cagttccgga aagcacagcc aggatgcagg gtgccgggaa
      181 agcgctgcat gagttgctgc tgtcggcgca gcgtcagggc tgcctcactg ccggcgtcta
      241 cgagtcagcc aaagtcttga acgtggaccc cgacaatgtg accttctgtg tgctggctgc
      301 gggtgaggag gacgagggcg acatcgcgct gcagatccat tttacgctga tccaggcttt
      361 ctgctgcgag aacgacatcg acatagtgcg cgtgggcgat gtgcagcggc tggcggctat
      421 cgtgggcgcc ggcgaggagg cgggtgcgcc gggcgacctg cactgcatcc tcatttcgaa
      481 ccccaacgag gacgcctgga aggatcccgc cttggagaag ctcagcctgt tttgcgagga
      541 gagccgcagc gttaacgact gggtgcccag catcaccctc cccgagtgac agcccggcgg
      601 ggaccttggt ctgatcgacg tggtgacgcc ccggggcgcc tagagcgcgg ctggctctgt
      661 ggaggggccc tccgagggtg cccgagtgcg gcgtggagac tggcaggcgg ggggggcgcc
      721 tggagagcga ggaggcgcgg cctcccgagg aggggcccgg tggcggcagg gccaggctgg
      781 tccgagctga ggactctgca agtgtctgga gcggctgctc gcccaggaag gcctaggcta
      841 ggacgttggc ctcagggcca ggaaggacag actggccggg caggcgtgac tcagcagcct
      901 gcgctcggca ggaaggagcg gcgccctgga cttggtacag tttcaggagc gtgaaggact
      961 taaccgactg ccgctgcttt ttcaaaacgg atccgggcaa tgcttcgttt tctaaaggat
     1021 gctgctgttg aagctttgaa ttttacaata aactttttga aacaaaaaaa aaaaaaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001848. Homo sapiens coll...[gi:15011912] Links  


LOCUS       COL6A1                  4164 bp    mRNA    linear   PRI 25-JUL-2001
DEFINITION  Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.
ACCESSION   NM_001848
VERSION     NM_001848.1  GI:15011912
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4164)
  AUTHORS   Weil,D., Mattei,M.G., Passage,E., N'Guyen,V.C., Pribula-Conway,D.,
            Mann,K., Deutzmann,R., Timpl,R. and Chu,M.L.
  TITLE     Cloning and chromosomal localization of human genes encoding the
            three chains of type VI collagen
  JOURNAL   Am. J. Hum. Genet. 42 (3), 435-445 (1988)
  MEDLINE   88161046
   PUBMED   3348212
REFERENCE   2  (bases 1 to 4164)
  AUTHORS   Chu,M.L., Conway,D., Pan,T.C., Baldwin,C., Mann,K., Deutzmann,R.
            and Timpl,R.
  TITLE     Amino acid sequence of the triple-helical domain of human collagen
            type VI
  JOURNAL   J. Biol. Chem. 263 (35), 18601-18606 (1988)
  MEDLINE   89066644
   PUBMED   3198591
REFERENCE   3  (bases 1 to 4164)
  AUTHORS   Chu,M.L., Pan,T.C., Conway,D., Kuo,H.J., Glanville,R.W., Timpl,R.,
            Mann,K. and Deutzmann,R.
  TITLE     Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human
            type VI collagen reveals internal triplication of globular domains
            similar to the A domains of von Willebrand factor and two alpha
            2(VI) chain variants that differ in the carboxy terminus
  JOURNAL   EMBO J. 8 (7), 1939-1946 (1989)
  MEDLINE   90005396
   PUBMED   2551668
REFERENCE   4  (bases 1 to 4164)
  AUTHORS   Saitta,B. and Chu,M.L.
  TITLE     Characterization of the human alpha 1(VI) collagen promoter and its
            comparison with human alpha 2(VI) promoters
  JOURNAL   Eur. J. Biochem. 234 (2), 542-549 (1995)
  MEDLINE   96128186
   PUBMED   8536701
REFERENCE   5  (bases 1 to 4164)
  AUTHORS   Trikka,D., Davis,T., Lapenta,V., Brahe,C. and Kessling,A.M.
  TITLE     Human COL6A1: genomic characterization of the globular domains,
            structural and evolutionary comparison with COL6A2
  JOURNAL   Mamm. Genome 8 (5), 342-345 (1997)
  MEDLINE   97262101
   PUBMED   9107679
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X15880.1, M20776.1, X92430.1
            and X15879.1.
            Summary: The collagens are a superfamily of proteins that play a
            role in maintaining the integrity of various tissues. Collagens are
            extracellular matrix proteins and have a triple-helical domain as
            their common structural element. Collagen VI is a major structural
            component of microfibrils. The basic structural unit of collagen VI
            is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI)
            chains. The alpha2(VI) and alpha3(VI) chains are encoded by the
            COL6A2 and COL6A3 genes, respectively. The protein encoded by this
            gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain).
            Mutations in the genes that code for the collagen VI subunits
            result in the autosomal dominant disorder, Bethlem myopathy.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4164
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..4164
                     /gene="COL6A1"
                     /db_xref="LocusID:1291"
                     /db_xref="MIM:120220"
     variation       complement(93)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:7671"
     CDS             98..3184
                     /gene="COL6A1"
                     /note="collagen VI, alpha-1 polypeptide; collagen alpha
                     1(VI) chain; short-chain collagen; collagen, intimal"
                     /codon_start=1
                     /product="collagen, type VI, alpha 1 precursor"
                     /protein_id="NP_001839.1"
                     /db_xref="GI:15011913"
                     /db_xref="LocusID:1291"
                     /db_xref="MIM:120220"
                     /translation="MRAARALLPLLLQACWTAAQDEPETPRAVAFQDCPVDLFFVLDT
                     SESVALRLKPYGALVDKVKSFTKRFIDNLRDRYYRCDRNLVWNAGALHYSDEVEIIQG
                     LTRMPGGRDALKSSVDAVKYFGKGTYTDCAIKKGLEQLLVGGSHLKENKYLIVVTDGH
                     PLEGYKEPCGGLEDAVNEAKHLGVKVFSVAITPDHLEPRLSIIATDHTYRRNFTAADW
                     GQSRDAEEAISQTIDTIVDMIKNNVEQVCCSFECQPARGPPGLRGDPGFEGERGKPGL
                     PGEKGEAGDPGRPGDLGPVGYQGMKGEKGSRGEKGSRGPKGYKGEKGKRGIDGVDGVK
                     GEMGYPGLPGCKGSPGFDGIQGPPGPKGDPGAFGLKGEKGEPGADGEAGRPGARGPSG
                     DEGPAGEPGPPGEKGEAGDEGNPGPDGAPGERGGPGERGPRGTPGPRGPRGDPGEAGP
                     QGDQGREGPVGVPGDPGEAGPIGPKGYRGDEGPPGSEGARGAPGPAGPPGDPGLMGER
                     GEDGPAGNGTEGFPGFPGYPGNRGAPGINGTKGYPGLKGDEGEAGDPGDDNNDIAPRG
                     VKGAKGYRGPEGPQGPPGHQGPPGPDECEILDIIMKMCSCCECKCGPIDLLFVLDSSE
                     SIGLQNFEIAKDFVVKVIDRLSRDELVKFEPGQSYAGVVQYSHSQMQEHVSLRSPSIR
                     NVQELKEAIKSLQWMAGGTFTGEALQYTRDQLLPPSPNNRIALVITDGRSDTQRDTTP
                     LNVLCSPGIQVVSVGIKDVFDFIPGSDQLNVISCQGLAPSQGRPGLSLVKENYAELLE
                     DAFLKNVTAQICIDKKCPDYTCPITFSSPADITILLDGSASVGSHNFDTTKRFAKRLA
                     ERFLTAGRTDPAHDVRVAVVQYSGTGQQRPERASLQFLQNYTALASAVDAMDFINDAT
                     DVNDALGYVTRFYREASSGAAKKRLLLFSDGNSQGATPAAIEKAVQEAQRAGIEIFVV
                     VVGRQVNEPHIRVLVTGKTAEYDVAYGESHLFRVPSYQALLRGVFHQTVSRKVALG"
     misc_feature    98..865
                     /gene="COL6A1"
                     /note="Region: amino-terminal globular domain"
     sig_peptide     98..154
                     /gene="COL6A1"
     mat_peptide     155..3181
                     /gene="COL6A1"
                     /product="collagen, type VI, alpha 1"
     misc_feature    200..751
                     /gene="COL6A1"
                     /note="VWA; Region: von Willebrand factor (vWF) type A
                     domain"
                     /db_xref="CDD:smart00327"
     misc_feature    206..751
                     /gene="COL6A1"
                     /note="vwa; Region: von Willebrand factor type A domain"
                     /db_xref="CDD:pfam00092"
     misc_feature    860..985
                     /gene="COL6A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    860..985
                     /gene="COL6A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    860..985
                     /gene="COL6A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    860..964
                     /gene="COL6A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    866..1873
                     /gene="COL6A1"
                     /note="Region: triple-helical domain"
     misc_feature    866..985
                     /gene="COL6A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    1052..1225
                     /gene="COL6A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    1055..1231
                     /gene="COL6A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    1064..1243
                     /gene="COL6A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    1073..1252
                     /gene="COL6A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    1082..1261
                     /gene="COL6A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    1091..1258
                     /gene="COL6A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    1874..3181
                     /gene="COL6A1"
                     /note="Region: C-terminal globular domain"
     misc_feature    1934..2425
                     /gene="COL6A1"
                     /note="VWA; Region: von Willebrand factor (vWF) type A
                     domain"
                     /db_xref="CDD:smart00327"
     misc_feature    1940..2488
                     /gene="COL6A1"
                     /note="vwa; Region: von Willebrand factor type A domain"
                     /db_xref="CDD:pfam00092"
     misc_feature    2576..3106
                     /gene="COL6A1"
                     /note="VWA; Region: von Willebrand factor (vWF) type A
                     domain"
                     /db_xref="CDD:smart00327"
     misc_feature    2582..3136
                     /gene="COL6A1"
                     /note="vwa; Region: von Willebrand factor type A domain"
                     /db_xref="CDD:pfam00092"
     variation       2646
                     /gene="COL6A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1053312"
     variation       2764
                     /gene="COL6A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1053315"
     variation       2833
                     /gene="COL6A1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:13879"
     variation       2893
                     /gene="COL6A1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1053320"
     variation       3390
                     /gene="COL6A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1053331"
     variation       3549
                     /gene="COL6A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:9254"
     polyA_signal    4145..4150
                     /gene="COL6A1"
     polyA_site      4164
                     /gene="COL6A1"
BASE COUNT      828 a   1338 c   1323 g    675 t
ORIGIN      
        1 cactctggct gggagcagaa ggcagcctcg gtctctgggc ggcggcggcg gccctctctg
       61 ccctggccgc gctgtgtggt gaccgcaggc ccgagacatg agggcggccc gtgctctgct
      121 gcccctgctg ctgcaggcct gctggacagc cgcgcaggat gagccggaga ccccgagggc
      181 cgtggccttc caggactgcc ccgtggacct gttctttgtg ctggacacct ctgagagcgt
      241 ggccctgagg ctgaagccct acggggccct cgtggacaaa gtcaagtcct tcaccaagcg
      301 cttcatcgac aacctgaggg acaggtacta ccgctgtgac cgaaacctgg tgtggaacgc
      361 aggcgcgctg cactacagtg acgaggtgga gatcatccaa ggcctcacgc gcatgcctgg
      421 cggccgcgac gcactcaaaa gcagcgtgga cgcggtcaag tactttggga agggcaccta
      481 caccgactgc gctatcaaga aggggctgga gcagctcctc gtggggggct cccacctgaa
      541 ggagaataag tacctgattg tggtgaccga cgggcacccc ctggagggct acaaggaacc
      601 ctgtgggggg ctggaggatg ctgtgaacga ggccaagcac ctgggcgtca aagtcttctc
      661 ggtggccatc acacccgacc acctggagcc gcgtctgagc atcatcgcca cggaccacac
      721 gtaccggcgc aacttcacgg cggctgactg gggccagagc cgcgacgcag aggaggccat
      781 cagccagacc atcgacacca tcgtggacat gatcaaaaat aacgttgagc aagtgtgctg
      841 ctccttcgaa tgccagcctg caagaggacc tccgggcctc cggggcgacc ccggctttga
      901 gggagaacga ggcaagccgg ggctcccagg agagaaggga gaagccggag atcctggaag
      961 acccggggac ctcggacctg ttgggtacca gggaatgaag ggagaaaaag ggagccgtgg
     1021 ggagaagggc tccaggggac caaagggcta caagggagag aagggcaagc gtggcatcga
     1081 cggggtggac ggcgtgaagg gggagatggg gtacccaggc ctgccaggct gcaagggctc
     1141 gccgggtttt gacggcattc aaggaccccc tggccccaag ggagaccccg gcgcctttgg
     1201 actgaaagga gaaaagggcg agcctggagc tgacggggag gccgggagac caggagctcg
     1261 gggaccatct ggagacgagg ggccagccgg agagcctggg ccccccggag agaaaggaga
     1321 ggcgggcgac gaggggaacc caggacctga cggtgccccc ggggagcggg gtggccctgg
     1381 agagagagga ccacggggga ccccaggccc gcggggacca agaggagacc ctggtgaagc
     1441 tggcccgcag ggtgatcagg gaagagaagg gcccgttggt gtccctggag acccgggcga
     1501 ggctggccct atcggaccta aaggctaccg aggcgatgag ggtcccccag ggtccgaggg
     1561 tgccagagga gccccaggac ctgccggacc ccctggagac ccggggctga tgggagaaag
     1621 gggagaagac ggccccgctg gaaatggcac cgagggcttc cccggcttcc ccgggtatcc
     1681 cgggaacagg ggcgctcccg ggataaacgg cacgaagggc taccccggcc tcaaggggga
     1741 cgagggagaa gccggggacc ccggagacga taacaacgac attgcacccc gaggagtcaa
     1801 aggagcaaag gggtaccggg gtcccgaggg cccccaggga cccccaggac accaaggacc
     1861 gcctgggccg gacgaatgcg agattttgga catcatcatg aaaatgtgct cttgctgtga
     1921 atgcaagtgc ggccccatcg acctcctgtt cgtgctggac agctcagaga gcattggcct
     1981 gcagaacttc gagattgcca aggacttcgt cgtcaaggtc atcgaccggc tgagccggga
     2041 cgagctggtc aagttcgagc cagggcagtc gtacgcgggt gtggtgcagt acagccacag
     2101 ccagatgcag gagcacgtga gcctgcgcag ccccagcatc cggaacgtgc aggagctcaa
     2161 ggaagccatc aagagcctgc agtggatggc gggcggcacc ttcacggggg aggccctgca
     2221 gtacacgcgg gaccagctgc tgccgcccag cccgaacaac cgcatcgccc tggtcatcac
     2281 tgacgggcgc tcagacactc agagggacac cacaccgctc aacgtgctct gcagccccgg
     2341 catccaggtg gtctccgtgg gcatcaaaga cgtgtttgac ttcatcccag gctcagacca
     2401 gctcaatgtc atttcttgcc aaggcctggc accatcccag ggccggcccg gcctctcgct
     2461 ggtcaaggag aactatgcag agctgctgga ggatgccttc ctgaagaatg tcaccgccca
     2521 gatctgcata gacaagaagt gtccagatta cacctgcccc atcacgttct cctccccggc
     2581 tgacatcacc atcctgctgg acggctccgc cagcgtgggc agccacaact ttgacaccac
     2641 caagcgcttc gccaagcgcc tggccgagcg cttcctcaca gcgggcagga cggaccccgc
     2701 ccacgacgtg cgggtggcgg tggtgcagta cagcggcacg ggccagcagc gcccagagcg
     2761 ggcgtcgctg cagttcctgc agaactacac ggccctggcc agtgccgtcg atgccatgga
     2821 ctttatcaac gacgccaccg acgtcaacga tgccctgggc tatgtgaccc gcttctaccg
     2881 cgaggcctcg tccggcgctg ccaagaagag gctgctgctc ttctcagatg gcaactcgca
     2941 gggcgccacg cccgctgcca tcgagaaggc cgtgcaggaa gcccagcggg caggcatcga
     3001 gatcttcgtg gtggtcgtgg gccgccaggt gaatgagccc cacatccgcg tcctggtcac
     3061 cggcaagacg gccgagtacg acgtggccta cggcgagagc cacctgttcc gtgtccccag
     3121 ctaccaggcc ctgctccgcg gtgtcttcca ccagacagtc tccaggaagg tggcgctggg
     3181 ctagcccacc ctgcacgccg gcaccaaacc ctgtcctccc acccctcccc actcatcact
     3241 aaacagagcc caagcttgga aagccaggac acaacgctgc tgcctgcttt gtgcagggtc
     3301 ctccggggct cagccctgag ttggcatcac ctgcgcaggg ccctctgggg ctcagctctg
     3361 agctagtgtc acctgcacag ggccctctga ggctcagccc tgagctggcg tcacctgtgc
     3421 agggccctct ggggctcagc cctgagctgg cctcacctgg gttccccacc ccgggctctc
     3481 ctgccctgcc ctcctgcccg ccctccctcc tgcctgcgca gctccttccc taggcacctc
     3541 tgtgctgcat cccaccagcc tgagcaagac gcctctcggg gcctgtgccg cactagcctc
     3601 cctctcctct gtccccatag ctggtttttc ccaccaatcc tcacctaaca gttactttac
     3661 aattaaactc aaagcaagct cttctcctca gcttggggca gccattggcc tctgtctcgt
     3721 tttgggaaac caaggtcagg aggccgttgc agacataaat ctcggcgact cggccccgtc
     3781 tcctgagggt cctgctggtg accggcctgg accttggccc tacagccctg gaggccgctg
     3841 ctgaccagca ctgaccccga cctcagagag tactcgcagg ggcgctggct gcactcaaga
     3901 ccctcgagat taacggtgct aaccccgtct gctcctccct cccgcagaga ctggggcctg
     3961 gactggacat gagagcccct tggtgccaca gagggctgtg tcttactaga aacaacgcaa
     4021 acctctcctt cctcagaata gtgatgtgtt cgacgtttta tcaaaggccc cctttctatg
     4081 ttcatgttag ttttgctcct tctgtgtttt tttctgaacc atatccatgt tgctgacttt
     4141 tccaaataaa ggttttcact cctc
//



Revised: July 5, 2002.
 
 


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1: NM_080679. Homo sapiens coll...[gi:18201914] Links  


LOCUS       COL11A2                 6093 bp    mRNA    linear   PRI 18-JAN-2002
DEFINITION  Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript
            variant 3, mRNA.
ACCESSION   NM_080679
VERSION     NM_080679.1  GI:18201914
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6093)
  AUTHORS   Kimura,T., Cheah,K.S., Chan,S.D., Lui,V.C., Mattei,M.G., van der
            Rest,M., Ono,K., Solomon,E., Ninomiya,Y. and Olsen,B.R.
  TITLE     The human alpha 2(XI) collagen (COL11A2) chain. Molecular cloning
            of cDNA and genomic DNA reveals characteristics of a fibrillar
            collagen with differences in genomic organization
  JOURNAL   J. Biol. Chem. 264 (23), 13910-13916 (1989)
  MEDLINE   89340485
   PUBMED   2760050
REFERENCE   2  (bases 1 to 6093)
  AUTHORS   Zhidkova,N.I., Brewton,R.G. and Mayne,R.
  TITLE     Molecular cloning of PARP (proline/arginine-rich protein) from
            human cartilage and subsequent demonstration that PARP is a
            fragment of the NH2-terminal domain of the collagen alpha 2(XI)
            chain
  JOURNAL   FEBS Lett. 326 (1-3), 25-28 (1993)
  MEDLINE   93314796
   PUBMED   8325374
REFERENCE   3  (bases 1 to 6093)
  AUTHORS   Tsumaki,N. and Kimura,T.
  TITLE     Differential expression of an acidic domain in the amino-terminal
            propeptide of mouse pro-alpha 2(XI) collagen by complex alternative
            splicing
  JOURNAL   J. Biol. Chem. 270 (5), 2372-2378 (1995)
  MEDLINE   95138212
   PUBMED   7836472
REFERENCE   4  (bases 1 to 6093)
  AUTHORS   Vikkula,M., Mariman,E.C., Lui,V.C., Zhidkova,N.I., Tiller,G.E.,
            Goldring,M.B., van Beersum,S.E., de Waal Malefijt,M.C., van den
            Hoogen,F.H., Ropers,H.H. et al.
  TITLE     Autosomal dominant and recessive osteochondrodysplasias associated
            with the COL11A2 locus
  JOURNAL   Cell 80 (3), 431-437 (1995)
  MEDLINE   95163096
   PUBMED   7859284
REFERENCE   5  (bases 1 to 6093)
  AUTHORS   Zhidkova,N.I., Justice,S.K. and Mayne,R.
  TITLE     Alternative mRNA processing occurs in the variable region of the
            pro-alpha 1(XI) and pro-alpha 2(XI) collagen chains
  JOURNAL   J. Biol. Chem. 270 (16), 9486-9493 (1995)
  MEDLINE   95238468
   PUBMED   7721876
REFERENCE   6  (bases 1 to 6093)
  AUTHORS   Vuristo,M.M., Pihlajamaa,T., Vandenberg,P., Prockop,D.J. and
            Ala-Kokko,L.
  TITLE     The human COL11A2 gene structure indicates that the gene has not
            evolved with the genes for the major fibrillar collagens
  JOURNAL   J. Biol. Chem. 270 (39), 22873-22881 (1995)
  MEDLINE   96032717
   PUBMED   7559422
REFERENCE   7  (bases 1 to 6093)
  AUTHORS   Lui,V.C., Ng,L.J., Sat,E.W. and Cheah,K.S.
  TITLE     The human alpha 2(XI) collagen gene (COL11A2): completion of coding
            information, identification of the promoter sequence, and precise
            localization within the major histocompatibility complex reveal
            overlap with the KE5 gene
  JOURNAL   Genomics 32 (3), 401-412 (1996)
  MEDLINE   96435918
   PUBMED   8838804
REFERENCE   8  (bases 1 to 6093)
  AUTHORS   Lui,V.C., Ng,L.J., Sat,E.W., Nicholls,J. and Cheah,K.S.
  TITLE     Extensive alternative splicing within the amino-propeptide coding
            domain of alpha2(XI) procollagen mRNAs. Expression of transcripts
            encoding truncated pro-alpha chains
  JOURNAL   J. Biol. Chem. 271 (28), 16945-16951 (1996)
  MEDLINE   96279277
   PUBMED   8663204
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U32169.1, U41065.1 and
            U41068.1.
            Summary: This gene encodes one of the two alpha chains of type XI
            collagen, a minor fibrillar collagen. It is located on chromosome 6
            very close to but separate from the gene for retinoid X receptor
            beta. Type XI collagen is a heterotrimer but the third alpha chain
            is a post-translationally modified alpha 1 type II chain.
            Proteolytic processing of this type XI chain produces PARP, a
            proline/arginine-rich protein that is an amino terminal domain.
            Mutations in this gene are associated with type III Stickler
            syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome),
            Weissenbacher-Zweymuller syndrome, and autosomal dominant
            nonsyndromic sensorineural 13 deafness. Three transcript variants
            encoding different isoforms have been identified for this gene.
            Transcript Variant: This variant (3) does not contain exons 6, 7
            and 8. This results in an isoform (3) that is 107 aa shorter than
            isoform 1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6093
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.3"
     gene            1..6093
                     /gene="COL11A2"
                     /note="DFNA13; STL3; HKE5; PARP"
                     /db_xref="LocusID:1302"
                     /db_xref="MIM:120290"
     variation       28
                     /gene="COL11A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1799906"
     variation       42
                     /gene="COL11A2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1799905"
     CDS             225..5114
                     /gene="COL11A2"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /codon_start=1
                     /product="alpha 2 type XI collagen, isoform 3
                     preproprotein"
                     /protein_id="NP_542410.1"
                     /db_xref="GI:18201915"
                     /db_xref="LocusID:1302"
                     /db_xref="MIM:120290"
                     /translation="MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLP
                     DGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLT
                     LYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQS
                     VTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAY
                     ESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQAAHGPRGLKG
                     EKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDG
                     APGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPG
                     PLGQPGSPGLKGESGDLGPQGPRGPQGLTGSLGKAGRRGRAGADGARGMPGDPGVKGD
                     RGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPK
                     GPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKG
                     PQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPRGVKGVDGIRGL
                     KGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPTGDPGPPGLM
                     GEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGERGPTGPRG
                     QRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPPGPPGKDGLPGH
                     PGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKE
                     GTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERG
                     AAGSGGPIGRQGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGV
                     AGEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHF
                     GAKGDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADG
                     PQGPPGGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGA
                     KGPQGDDGPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGEN
                     GPPGPLGKRGPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRG
                     LPGSVGQQGRPGATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGE
                     KGDRGLPGPQGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEK
                     GVQGPPGHPGPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEI
                     FGSLDSLREEIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRV
                     FCNFTAGGETCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAA
                     RDGPLRLRGANEDELSPETSPYVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSD
                     LGAPPRRGGVLLGPVCFMG"
     sig_peptide     225..290
                     /gene="COL11A2"
     mat_peptide     291..4403
                     /gene="COL11A2"
                     /product="alpha 2 type XI collagen, isoform 3"
     misc_feature    315..863
                     /gene="COL11A2"
                     /note="TSPN; Region: Thrombospondin N-terminal -like
                     domain"
                     /db_xref="CDD:pfam02210"
     misc_feature    315..863
                     /gene="COL11A2"
                     /note="TSPN; Region: Thrombospondin N-terminal -like
                     domains."
                     /db_xref="CDD:smart00210"
     misc_feature    399..2324
                     /gene="COL11A2"
                     /note="Region: PARP"
     misc_feature    471..848
                     /gene="COL11A2"
                     /note="LamG; Region: Laminin G domain"
                     /db_xref="CDD:smart00282"
     misc_feature    4521..5108
                     /gene="COL11A2"
                     /note="COLFI; Region: Fibrillar collagens C-terminal
                     domain"
                     /db_xref="CDD:smart00038"
     misc_feature    4572..5105
                     /gene="COL11A2"
                     /note="COLFI; Region: Fibrillar collagen C-terminal
                     domain"
                     /db_xref="CDD:pfam01410"
     misc_feature    291..5114
                     /gene="COL11A2"
                     /note="alpha 1 type XI collagen, isoform 3 proprotein"
     misc_feature    1022^1023
                     /gene="COL11A2"
                     /note="Region: location of missing exons 6, 7 and 8"
     variation       1883
                     /gene="COL11A2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2229786"
     variation       1962
                     /gene="COL11A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2228549"
     variation       2375
                     /gene="COL11A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1799909"
     variation       2603
                     /gene="COL11A2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2229785"
     variation       2810
                     /gene="COL11A2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2229788"
     variation       3077
                     /gene="COL11A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2229789"
     variation       3287
                     /gene="COL11A2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2229791"
     variation       3849
                     /gene="COL11A2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:2229784"
     variation       4787
                     /gene="COL11A2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2229790"
     variation       5068
                     /gene="COL11A2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2229792"
     variation       5145
                     /gene="COL11A2"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1054531"
     polyA_signal    6068..6073
                     /gene="COL11A2"
     polyA_site      6093
                     /gene="COL11A2"
BASE COUNT     1196 a   1786 c   2085 g   1026 t
ORIGIN      
        1 cacacagaag cggcagccac cgaggaggga gcagtgccgg gagccccgac ggcgccttgc
       61 tgcatggagc tgggccgctg acagctgtcg tgcccgcagc ctctgacctc cctgggaccc
      121 cggcgtctga ggctcatagt ctgctccctg tcttctgtca gcctcagggc atccagcgtc
      181 tcaggccgac ctgtccctgg gacccggcgt ttcgcttctc agccatggag cggtgcagcc
      241 gctgccatcg cctcctcctc ctcctacctc tggtgctggg gctgagcgcg gccccaggct
      301 gggcaggtgc accccctgtg gatgtgctcc gggccctgag gttcccctcc ctccctgatg
      361 gtgtccggag agcgaaaggc atctgtccag ctgatgtggc ctaccgagtg gcacgacctg
      421 cccagctcag tgcacccact cgccagcttt tcccaggagg atttcccaaa gatttctctc
      481 tgctgactgt tgtccggacc cgccctggtc tccaagctcc cctcctgact ctctacagtg
      541 cccagggtgt ccgacagctg ggcctggagc tgggccgacc tgtccgcttc ctgtatgaag
      601 accagacagg gcggcctcaa cctccctctc agccagtctt ccgaggcctc agcctagcag
      661 atggcaagtg gcaccgtgtg gctgtggctg tgaagggcca gtctgtcacc ctcattgttg
      721 actgcaagaa gcgagtcacc cggcctctcc cccgaagtgc tcgtccagta ttggacaccc
      781 atggagtgat catctttggt gcccgtattc tggatgaaga agtctttgag ggtgatgtcc
      841 aggagctggc cattgtccca ggggtccagg cagcctatga atcatgtgaa cagaaggagc
      901 tggaatgcga ggggggccag agggaaagac cccaaaacca acagcctcac agagcccaga
      961 gatctccaca gcagcaacca tcaagacttc acaggccaca aaatcaggaa ccccagagcc
     1021 aggctgccca tggaccccga gggctgaagg gagagaaagg agagcctgca gtgttggaac
     1081 ctggtatgct cgtggagggg ccccctggcc cagaagggcc tgcgggattg attggtcccc
     1141 ctggcatcca ggggaaccca ggcccagttg gagaccctgg agagaggggc ccccctggcc
     1201 gagcagggct ccctggatca gatggggctc ctggtcctcc tggcacatct ctcatgctcc
     1261 cattccggtt tggcagtggt gggggtgaca agggccctgt ggtggcggcc caggaggctc
     1321 aggcccaggc gatcctgcag caggcgaggc tggcgctccg tggaccccct ggccccatgg
     1381 gatacacagg gcgccctgga cccttgggcc aacctgggag ccctggcctg aaaggagagt
     1441 ctggagactt aggacctcag ggccccagag gacctcaggg cctcacaggc tccctgggca
     1501 aggctgggcg aaggggccgg gcaggtgctg atggagcccg agggatgcct ggagatcctg
     1561 gagtgaaggg tgaccgaggt tttgatggac tcccagggct ccctggagag aagggccata
     1621 ggggtgatac tggtgcccag ggccttcctg gtccccctgg tgaggatgga gagaggggag
     1681 atgacgggga gattgggcct cgagggctgc ctggagagtc gggacctcga ggtctccttg
     1741 gccccaaagg cccacctggt attcctggac cccctggcgt ccgaggcatg gatggtcccc
     1801 agggccccaa agggagcttg ggaccccagg gagagccagg acctcctgga caacagggca
     1861 cccctgggac ccagggtctt cccgggcccc agggtgccat cggccctcat ggagagaagg
     1921 gtcctcaagg gaagccaggg ctccccggca tgcctggctc agacggaccc ccgggtcacc
     1981 cagggaagga aggtccccct ggaaccaaag gaaaccaggg tccctctgga cctcagggac
     2041 ctctaggata cccaggacct cgaggggtca agggtgtgga cggaattcgg ggtctgaagg
     2101 gtcataaggg tgagaagggt gaggatggct ttcctgggtt caaaggtgac ataggcgtga
     2161 aaggtgacag gggcgaagtt ggagtccctg gttccagggg agaggatggt cctgaggggc
     2221 caaagggacg cactggaccg actggagacc ctgggccccc agggctcatg ggcgagaagg
     2281 gcaagctggg tgttcctggt ctgcctggct atcctggacg tcagggaccc aaggggtccc
     2341 taggatttcc tggctttcct ggtgccagtg gagagaaggg agcccggggc ctgtcgggga
     2401 agtcagggcc tcggggagaa cggggcccca cgggtccacg gggtcagcgg ggaccccgag
     2461 gtgccactgg gaagtctgga gctaagggaa catctggtgg tgatggcccc catggccccc
     2521 ctggagagag gggcctccct ggacctcagg gtcccaacgg gtttcctgga ccgaaaggac
     2581 ccccgggccc ccctgggaag gacgggctgc cgggacaccc aggccaaaga ggagaagtgg
     2641 gtttccaagg gaagaccggc ccccctggtc ctccaggagt ggtgggacct cagggagcag
     2701 caggagaaac cggccctatg ggggagagag gtcacccagg ccccccgggg ccccctggag
     2761 agcagggact acctgggaca gctggaaaag aaggaacaaa gggtgaccct ggtccccctg
     2821 gggccccagg gaaggatggt cctgctggtc tgaggggatt cccaggagag agaggcctcc
     2881 caggcactgc tggtggacct ggtttgaagg ggaatgaagg tccgtctggc ccccctggcc
     2941 ctgcaggctc ccctggggaa cgaggtgcag caggatcagg gggacccatt ggtcgccagg
     3001 ggcgcccagg cccgcagggt ccccctggag cagcaggaga gaaaggtgtc ccaggtgaga
     3061 agggccccat tggcccgact ggccgagatg gagtgcaggg tcctgtgggg cttcctggtc
     3121 ctgctgggcc tccaggtgtg gctggagagg atggagacaa gggtgaggtg ggggaccccg
     3181 gacagaaggg caccaaaggg aacaagggtg aacatggccc tcctggaccc cctggaccca
     3241 ttggtcctgt ggggcagcct ggagcagcgg gagcagatgg ggagcccgga gctcggggac
     3301 cccagggaca ctttggagcc aaaggtgatg aaggaacaag aggattcaat gggcccccag
     3361 gacccattgg cctacagggt ttgccaggcc cctctgggga gaagggagaa acaggagatg
     3421 tgggtcctat gggaccacct ggccccccag gacctcgagg tccagctgga cccaatggcg
     3481 ctgatggccc acaaggtccc ccaggaggtg ttgggaacct gggtccccct ggagagaagg
     3541 gggaaccagg agagtcagga tctccaggga tccagggcga gccaggtgtc aagggtccac
     3601 gcggggaacg tggagagaaa ggagagtcgg ggcagccagg agagccaggg ccaccaggcg
     3661 ctaaaggccc acagggcgat gatggcccca aagggaaccc tggtcctgtt ggttttcctg
     3721 gtgaccctgg cccccctgga gaaggtggcc ctcggggcca ggatggtgct aagggtgacc
     3781 gaggcgagga tggtgagcca ggacagcctg gatcccctgg tcccaccggg gagaatggac
     3841 ccccagggcc acttggaaag cgaggtcctg ctggctcgcc tggttccgag gggcgacaag
     3901 gagggaaggg agccaaggga gatcctggcg ctataggtgc cccggggaag acaggcccgg
     3961 tgggtcctgc aggcccagca gggaaacctg gccctgatgg tctgaggggg ctcccaggct
     4021 cagtgggtca gcaaggccga cctggagcta caggccaggc tgggccccca ggtcctgtgg
     4081 gacccccagg gctgcctggt ctccggggcg atgctggagc caagggagag aagggccacc
     4141 caggtctcat tggactgatt gggcccccgg gtgagcaggg agagaaggga gatcggggac
     4201 ttcctgggcc tcagggctcc cctgggcaga agggtgagat gggtatccca ggagcatccg
     4261 gccccattgg tcctggaggt ccccccggcc tccccggacc tgctggcccc aaaggagcca
     4321 aaggagccac aggcccaggc ggacccaagg gagagaaggg tgtgcagggc cctccaggac
     4381 acccgggtcc cccaggcgag gtgatccagc cactgcccat tcagatgccc aagaagactc
     4441 ggcgctcggt ggatggaagc cgtctgatgc aggaagatga ggccataccg accgggggag
     4501 cccccggcag tcctgggggg ctggaggaga tctttggctc actcgactcc ctgcgggagg
     4561 agatcgagca gatgaggcgg ccaacaggga cccaggacag ccctgctcgc acctgccagg
     4621 acctgaagct gtgccaccca gagcttcccg atggagagta ctgggtcgac cccaaccagg
     4681 gctgtgctcg ggatgccttc cgagttttct gcaacttcac agcagggggt gagacctgtg
     4741 tgacgcctag ggatgacgtc acgcagttct cttacgtgga ctcagagggc tccccagtgg
     4801 gtgtggtcca gctcaccttc ctgcggctgc tcagcgtctc agcccaccag gacgtctcct
     4861 acccctgctc tggagcagcc cgtgacggtc ccctgagact ccgtggggcc aatgaggatg
     4921 agctgagccc ggagactagc ccctatgtca aagaattcag agatggctgc cagacacagc
     4981 aaggccggac ggtgctggag gtgcgaacgc ctgtgctgga gcagctgcca gtgctggatg
     5041 cctccttctc agacctggga gccccaccga ggcggggagg ggtgctgctg gggcctgtct
     5101 gcttcatggg ataggaccgt ctctgtctga tcctgtccat tcggtaccag gcccacctgg
     5161 aatcccacaa catcagctct gtgccacctc ccaagagggc tcctcactat ctagggagcc
     5221 ctgggccagg gctggagagc cctcagtcgg ggcaggccag gggaggggtg aagtggttgc
     5281 ctggacaccc cacgggagga gtggcatctg ggctcttggc cctcccacct ggagcctgtt
     5341 acccgttaga gagctgagag cccttattta aaactcacct cccaatcacc ccaaacaaat
     5401 ggaagagaag agaaaggaca tggcgtattt tgtatttaaa agtaattgta ttaattattt
     5461 aaagtgtgga aagcaaaata acaaaaaaga gaaacgccaa caaaaaatca gcagatgttg
     5521 aagacagggg tctcgggggt gggctccggc acccacatct gagtcaggac tttcctcagt
     5581 gactgtgtgt aggggggttc agggctgaac ccacctccct cccaccttcc tcccacctca
     5641 cctgtcgcac ccactgtgaa agttggaata tgtggtctcc ctggcctcag ggctctgact
     5701 ctgccagggt ggggctctct aacccacagg tgttggctgc ctggcccatg tgcccactgt
     5761 ctcttccact tggtctgggt ttggcaggca ctgctgctac ttgagggcca ggatgctccc
     5821 ccagggaaga aacggaatag tgtggggtgt gtgcagggct gcatccgcag atggctggaa
     5881 tattaaaatt cttctatatt ggctggtaaa ttgccatggc cctgagccac tgagtatgtt
     5941 cattgccacc cctgtcctcc cctgggcacc cctcactttc cctgatcctg caattaaagg
     6001 gttaatgtgt ggcatatgga agggactccc aggaccctgt gcccagcttc catgctgact
     6061 gatggttaaa taatgtgatt gtctcctccc agg
//



Revised: July 5, 2002.
 
 


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1: NM_007112. Homo sapiens thro...[gi:6005901] Links  


LOCUS       THBS3                   2871 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens thrombospondin 3 (THBS3), mRNA.
ACCESSION   NM_007112
VERSION     NM_007112.1  GI:6005901
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2871)
  AUTHORS   Vos,H.L., Devarayalu,S., de Vries,Y. and Bornstein,P.
  TITLE     Thrombospondin 3 (Thbs3), a new member of the thrombospondin gene
            family
  JOURNAL   J. Biol. Chem. 267 (17), 12192-12196 (1992)
  MEDLINE   92291102
   PUBMED   1601886
REFERENCE   2  (bases 1 to 2871)
  AUTHORS   Bornstein,P., Devarayalu,S., Edelhoff,S. and Disteche,C.M.
  TITLE     Isolation and characterization of the mouse thrombospondin 3
            (Thbs3) gene
  JOURNAL   Genomics 15 (3), 607-613 (1993)
  MEDLINE   93224149
   PUBMED   8468055
REFERENCE   3  (bases 1 to 2871)
  AUTHORS   Qabar,A.N., Lin,Z., Wolf,F.W., O'Shea,K.S., Lawler,J. and
            Dixit,V.M.
  TITLE     Thrombospondin 3 is a developmentally regulated heparin binding
            protein
  JOURNAL   J. Biol. Chem. 269 (2), 1262-1269 (1994)
  MEDLINE   94117438
   PUBMED   8288588
REFERENCE   4  (bases 1 to 2871)
  AUTHORS   Adolph,K.W., Long,G.L., Winfield,S., Ginns,E.I. and Bornstein,P.
  TITLE     Structure and organization of the human thrombospondin 3 gene
            (THBS3)
  JOURNAL   Genomics 27 (2), 329-336 (1995)
  MEDLINE   96044440
   PUBMED   7558000
REFERENCE   5  (bases 1 to 2871)
  AUTHORS   Qabar,A., Derick,L., Lawler,J. and Dixit,V.
  TITLE     Thrombospondin 3 is a pentameric molecule held together by
            interchain disulfide linkage involving two cysteine residues
  JOURNAL   J. Biol. Chem. 270 (21), 12725-12729 (1995)
  MEDLINE   95279412
   PUBMED   7759526
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from L38969.1.
FEATURES             Location/Qualifiers
     source          1..2871
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21"
                     /tissue_type="lung"
                     /dev_stage="fetal"
     gene            1..2871
                     /gene="THBS3"
                     /note="TSP3"
                     /db_xref="LocusID:7059"
                     /db_xref="MIM:188062"
     CDS             1..2871
                     /gene="THBS3"
                     /codon_start=1
                     /evidence=experimental
                     /product="thrombospondin 3"
                     /protein_id="NP_009043.1"
                     /db_xref="GI:6005902"
                     /db_xref="LocusID:7059"
                     /db_xref="MIM:188062"
                     /translation="METQELRGALALLLLCFFTSASQDLQVIDLLTVGESRQMVAVAE
                     KIRTALLTAGDIYLLSTFRLPPKQGGVLFGLYSRQDNTRWLEASVVGKINKVLVRYQR
                     EDGKVHAVNLQQAGLADGRTHTVLLRLRGPSRPSPALHLYVDCKLGDQHAGLPALAPI
                     PPAEVDGLEIRTGQKAYLRMQGFVESMKIILGGSMARVGALSECPFQGDESIHSAVTN
                     ALHSILGEQTKALVTQLTLFNQILVELRDDIRDQVKEMSLIRNTIMECQVCGFHEQRS
                     HCSPNPCFRGVDCMEVYEYPGYRCGPCPPGLQGNGTHCSDINECAHADPCFPGSSCIN
                     TMPGFHCEACPRGYKGTQVSGVGIDYARASKQVCNDIDECNDGNNGGCDPNSICTNTV
                     GSFKCGPCRLGFLGNQSQGCLPARTCHSPAHSPCHIHAHCLFERNGAVSCQCNVGWAG
                     NGNVCGTDTDIDGYPDQALPCMDNNKHCKQDNCLLTPNSGQEDADNDGVGDQCDDDAD
                     GDGIKNVEDNCRLFPNKDQQNSDTDSFGDACDNCPNVPNNDQKDTDGNGEGDACDNDV
                     DGDGIPNGLDNCPKVPNPLQTDRDEDGVGDACDSCPEMSNPTQTDADSDLVGDVCDTN
                     EDSDGDGHQDTKDNCPQLPNSSQLDSDNDGLGDECDGDDDNDGIPDYVPPGPDNCRLV
                     PNPNQKDSDGNGVGDVCEDDFDNDAVVDPLDVCPESAEVTLTDFRAYQTVVLDPEGDA
                     QIDPNWVVLNQGMEIVQTMNSDPGLAVGYTAFNGVDFEGTFHVNTVTDDDYAGFLFSY
                     QDSGRFYVVMWKQTEQTYWQATPFRAVAQPGLQLKAVTSVSGPGEHLRNALWHTGHTP
                     DQVRLLWTDPRNVGWRDKTSYRWQLLHRPQVGYIRVKLYEGPQLVADSGVIIDTSMRG
                     GRLGVFCFSQENIIWSNLQYRCNDTVPEDFEPFRRQLLQGRV"
     misc_feature    67..579
                     /gene="THBS3"
                     /note="Region: pfam02210, TSPN, Thrombospondin N-terminal
                     -like domain"
     misc_feature    67..579
                     /gene="THBS3"
                     /note="Region: smart00210, TSPN, Thrombospondin N-terminal
                     -like domains; Heparin-binding and cell adhesion domain of
                     thrombospondin"
     misc_feature    946..1053
                     /gene="THBS3"
                     /note="Region: smart00179, EGF_CA, Calcium-binding
                     EGF-like domain"
     variation       2583
                     /gene="THBS3"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1058155"
BASE COUNT      660 a    786 c    825 g    600 t
ORIGIN      
        1 atggagacgc aggaacttcg gggggccctg gctcttctcc tcctttgctt tttcacatct
       61 gccagtcagg atctgcaggt aattgacctg ctgactgtgg gcgagtctcg gcagatggta
      121 gctgtggcag agaagatccg gacagccttg ctcactgctg gggacatcta cctcttatcc
      181 accttccgcc tgccccccaa gcagggtggt gtcctctttg gcctctattc tcgccaagac
      241 aacactcgat ggctggaggc ctctgttgta ggcaagatca acaaagtact ggtgcgatac
      301 cagcgggagg atggcaaagt ccacgccgtg aacctacagc aagcgggcct ggctgatggg
      361 cgcacacaca cagttctcct gcgactccga ggtccctcca gacccagccc tgccctacat
      421 ctctacgtgg actgcaaact gggtgaccaa catgcaggcc ttccagcact ggcccccatt
      481 cctccagcgg aggtcgatgg gctggagatt aggactggac agaaggcgta tttgaggatg
      541 cagggctttg tggaatctat gaaaattatt ctgggtgggt ccatggcccg ggtaggagcc
      601 ctgagtgagt gtccattcca aggggacgag tccatccaca gtgcagtgac caatgcactg
      661 cactccattc taggggagca gaccaaggcg ctggtcaccc aactcaccct cttcaaccag
      721 atcctggtgg agctgcggga tgatatacga gaccaggtaa aggaaatgtc cctgatccga
      781 aacaccatta tggagtgtca ggtgtgcggc ttccatgagc agcgttccca ctgcagcccc
      841 aatccctgct tccgaggtgt ggactgcatg gaagtgtacg agtacccagg ctaccgctgt
      901 gggccctgcc cccctggcct gcagggcaac ggcacccact gcagtgacat caatgagtgt
      961 gctcacgctg acccctgttt cccgggctcc agctgcatca acaccatgcc cggcttccac
     1021 tgtgaggcct gtcctcgagg gtacaagggc acacaggtgt ctggtgtggg cattgactat
     1081 gcccgggcca gcaaacaggt ctgcaatgac atcgatgaat gcaacgatgg caacaatggt
     1141 ggctgtgacc caaactccat ctgcaccaac actgtgggct ctttcaagtg tggtccctgc
     1201 cgcctgggtt tcctgggcaa ccagagccag ggctgcctcc cagcccggac ctgccacagc
     1261 ccagcccaca gcccctgcca catccatgct cactgtctct ttgaacgcaa tggtgcagtg
     1321 tcctgccagt gtaacgtggg ctgggctggg aatgggaacg tgtgtgggac tgacacagac
     1381 atcgatggct acccagacca agcactgccc tgcatggaca acaacaaaca ctgcaaacag
     1441 gacaactgcc ttttgacacc caactctggg caggaagatg ctgataatga tggtgtgggg
     1501 gaccagtgtg atgatgatgc tgatggggat gggatcaaga atgttgagga caactgccgg
     1561 ctgttcccca acaaagacca gcagaactca gatacagatt catttggtga tgcctgtgac
     1621 aattgcccca acgttcccaa caatgaccag aaggacacag atggcaatgg ggaaggagat
     1681 gcctgtgaca acgacgtgga tggggatggc atccccaatg gattggacaa ttgccctaaa
     1741 gtccccaacc cactacagac agacagggat gaggacgggg tgggagatgc ttgcgacagc
     1801 tgccctgaaa tgagcaatcc tacccagaca gatgcagaca gcgacctggt gggggatgtc
     1861 tgtgatacta atgaagacag cgatggggat gggcatcagg acaccaagga caactgccca
     1921 cagctgccaa atagctccca gctggactct gataacgatg gacttggaga tgagtgtgat
     1981 ggggatgatg acaatgatgg catcccagat tatgtgcctc ctggtcccga taactgccgc
     2041 ctggtaccca atcccaatca gaaggactca gatggcaatg gcgttggtga tgtgtgtgag
     2101 gatgactttg acaatgatgc tgtggtcgac cccctggatg tgtgtcctga aagtgcagag
     2161 gtaacgctta cggattttcg ggcctatcag accgtcgtcc tggatcctga gggtgatgct
     2221 cagattgacc caaactgggt tgtgctcaac cagggcatgg aaatcgttca gaccatgaac
     2281 agtgaccctg gcttggcagt tggatacacg gccttcaatg gtgtggactt tgaaggcacc
     2341 ttccatgtga acacagtgac tgatgatgac tacgcaggct ttctcttcag ttatcaagac
     2401 agtggccgct tctacgtagt catgtggaag cagaccgagc agacctactg gcaggctaca
     2461 cccttccggg cggttgccca gcccgggctg cagctcaagg cagtgacatc agtgtctggc
     2521 ccaggtgagc acctccgaaa tgccctgtgg catactggcc acacccctga tcaggtacga
     2581 ctcctgtgga cagacccacg aaatgtgggc tggcgggaca agacctccta tcgctggcag
     2641 cttctgcacc ggcctcaagt tggctacatt cgggtgaagc tctatgaggg accccagctt
     2701 gtggcggatt ctggggtgat cattgacaca tccatgcgag gggggcgtct tggtgtattc
     2761 tgcttctccc aagaaaacat aatttggtcc aatctccagt atcgatgcaa tgacacagtg
     2821 cctgaggact ttgagccatt ccggaggcag ctgctccagg gaagggtgtg a
//



Revised: July 5, 2002.
 
 


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1: NM_013253. Homo sapiens dick...[gi:7019362] Links  


LOCUS       DKK3                    2479 bp    mRNA    linear   PRI 04-OCT-2002
DEFINITION  Homo sapiens dickkopf homolog 3 (Xenopus laevis) (DKK3), mRNA.
ACCESSION   NM_013253 NM_015882
VERSION     NM_013253.1  GI:7019362
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2479)
  AUTHORS   Krupnik,V.E., Sharp,J.D., Jiang,C., Robison,K., Chickering,T.W.,
            Amaravadi,L., Brown,D.E., Guyot,D., Mays,G., Leiby,K., Chang,B.,
            Duong,T., Goodearl,A.D., Gearing,D.P., Sokol,S.Y. and McCarthy,S.A.
  TITLE     Functional and structural diversity of the human Dickkopf gene
            family
  JOURNAL   Gene 238 (2), 301-313 (1999)
  MEDLINE   20035735
   PUBMED   10570958
REFERENCE   2  (bases 1 to 2479)
  AUTHORS   Tsuji,T., Miyazaki,M., Sakaguchi,M., Inoue,Y. and Namba,M.
  TITLE     A REIC gene shows down-regulation in human immortalized cells and
            human tumor-derived cell lines
  JOURNAL   Biochem. Biophys. Res. Commun. 268 (1), 20-24 (2000)
  MEDLINE   20119095
   PUBMED   10652205
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF177396.1.
FEATURES             Location/Qualifiers
     source          1..2479
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.2"
     gene            1..2479
                     /gene="DKK3"
                     /note="REIC"
                     /db_xref="LocusID:27122"
                     /db_xref="MIM:605416"
     CDS             38..1090
                     /gene="DKK3"
                     /note="secreted protein; RIG-like 7-1; RIG-like 5-6"
                     /codon_start=1
                     /product="dickkopf homolog 3"
                     /protein_id="NP_037385.1"
                     /db_xref="GI:7019363"
                     /db_xref="LocusID:27122"
                     /db_xref="MIM:605416"
                     /translation="MQRLGATLLCLLLAAAVPTAPAPAPTATSAPVKPGPALSYPQEE
                     ATLNEMFREVEELMEDTQHKLRSAVEEMEAEEAAAKASSEVNLANLPPSYHNETNTDT
                     KVGNNTIHVHREIHKITNNQTGQMVFSETVITSVGDEEGRRSHECIIDEDCGPSMYCQ
                     FASFQYTCQPCRGQRMLCTRDSECCGDQLCVWGHCTKMATRGSNGTICDNQRDCQPGL
                     CCAFQRGLLFPVCTPLPVEGELCHDPASRLLDLITWELEPDGALDRCPCASGLLCQPH
                     SHSLVYVCKPTFVGSRDQDGEILLPREVPDEYEVGSFMEEVRQELEDLERSLTEEMAL
                     GEPAAAAAALLGGEEI"
     variation       complement(743)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2291598"
     variation       1040
                     /gene="DKK3"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3206824"
     variation       complement(1040)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3829233"
     variation       complement(2247)
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:8169"
     variation       2318
                     /gene="DKK3"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1043179"
BASE COUNT      625 a    618 c    668 g    567 t      1 others
ORIGIN      
        1 ggcacgaggg ggcggcggct gcgggcgcag agcggagatg cagcggcttg gggccaccct
       61 gctgtgcctg ctgctggcgg cggcggtccc cacggccccc gcgcccgctc cgacggcgac
      121 ctcggctcca gtcaagcccg gcccggctct cagctacccg caggaggagg ccaccctcaa
      181 tgagatgttc cgcgaggttg aggaactgat ggaggacacg cagcacaaat tgcgcagcgc
      241 ggtggaagag atggaggcag aagaagctgc tgctaaagca tcatcagaag tgaacctggc
      301 aaacttacct cccagctatc acaatgagac caacacagac acgaaggttg gaaataatac
      361 catccatgtg caccgagaaa ttcacaagat aaccaacaac cagactggac aaatggtctt
      421 ttcagagaca gttatcacat ctgtgggaga cgaagaaggc agaaggagcc acgagtgcat
      481 catcgacgag gactgtgggc ccagcatgta ctgccagttt gccagcttcc agtacacctg
      541 ccagccatgc cggggccaga ggatgctctg cacccgggac agtgagtgct gtggagacca
      601 gctgtgtgtc tggggtcact gcaccaaaat ggccaccagg ggcagcaatg ggaccatctg
      661 tgacaaccag agggactgcc agccggggct gtgctgtgcc ttccagagag gcctgctgtt
      721 ccctgtgtgc acacccctgc ccgtggaggg cgagctttgc catgaccccg ccagccggct
      781 tctggacctc atcacctggg agctagagcc tgatggagcc ttggaccgat gcccttgtgc
      841 cagtggcctc ctctgccagc cccacagcca cagcctggtg tatgtgtgca agccgacctt
      901 cgtggggagc cgtgaccaag atggggagat cctgctgccc agagaggtcc ccgatgagta
      961 tgaagttggc agcttcatgg aggaggtgcg ccaggagctg gaggacctgg agaggagcct
     1021 gactgaagag atggcgctgg gggagcctgc ggctgccgcc gctgcactgc tgggagggga
     1081 agagatttag atctggacca ggctgtgggt agatgtgcaa tagaaatagc taatttattt
     1141 ccccangtgt gtgctttaag cgtgggctga ccaggcttct tcctacatct tcttcccagt
     1201 aagtttcccc tctggcttga cagcatgagg tgttgtgcat ttgttcagct cccccaggct
     1261 gttctccagg cttcacagtc tggtgcttgg gagagtcagg cagggttaaa ctgcaggagc
     1321 agtttgccac ccctgtccag attattggct gctttgcctc taccagttgg cagacagccg
     1381 tttgttctac atggctttga taattgtttg aggggaggag atggaaacaa tgtggagtct
     1441 ccctctgatt ggttttgggg aaatgtggag aagagtgccc tgctttgcaa acatcaacct
     1501 ggcaaaaatg caacaaatga attttccacg cagttctttc catgggcata ggtaagctgt
     1561 gccttcagct gttgcagatg aaatgttctg ttcaccctgc attacatgtg tttattcatc
     1621 cagcagtgtt gctcagctcc tacctctgtg ccagggcagc attttcatat ccaagatcaa
     1681 ttccctctct cagcacagcc tggggagggg gtcattgttc tcctcgtcca tcagggattt
     1741 cagaggctca gagactgcaa gctgcttgcc caagtcacac agctagtgaa gaccagagca
     1801 gtttcatctg gttgtgactc taagctcagt gctctctcca ctaccccaca ccagccttgg
     1861 tgccaccaaa agtgctcccc aaaaggaagg agaatgggat ttttcttttg aggcatgcac
     1921 atctggaatt aaggtcaaac taattctcac atccctctaa aagtaaacta ctgttaggaa
     1981 cagcagtgtt ctcacagtgt ggggcagccg tccttctaat gaagacaatg atattgacac
     2041 tgtccctctt tggcagttgc attagtaact ttgaaaggta tatgactgag cgtagcatac
     2101 aggttaacct gcagaaacag tacttaggta attgtagggc gaggattata aatgaaattt
     2161 gcaaaatcac ttagcagcaa ctgaagacaa ttatcaacca cgtggagaaa atcaaaccga
     2221 gcagggctgt gtgaaacatg gttgtaatat gcgactgcga acactgaact ctacgccact
     2281 ccacaaatga tgttttcagg tgtcatggac tgttgccacc atgtattcat ccagagttct
     2341 taaagtttaa agttgcacat gattgtataa gcatgctttc tttgagtttt aaattatgta
     2401 taaacataag ttgcatttag aaatcaagca taaatcactt caactgctaa aaaaaaaaaa
     2461 aaaaaaaaaa aaaaaaaaa
//



Revised: July 5, 2002.
 
 


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1: NM_005545. Homo sapiens immu...[gi:5031808] Links  


LOCUS       ISLR                    2110 bp    mRNA    linear   PRI 01-NOV-2000
DEFINITION  Homo sapiens immunoglobulin superfamily containing leucine-rich
            repeat (ISLR), mRNA.
ACCESSION   NM_005545
VERSION     NM_005545.1  GI:5031808
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2110)
  AUTHORS   Nagasawa A, Kudoh J, Noda S, Mashima Y, Wright A, Oguchi Y and
            Shimizu N.
  TITLE     Human and mouse ISLR (immunoglobulin superfamily containing
            leucine-rich repeat) genes: genomic structure and tissue expression
  JOURNAL   Genomics 61 (1), 37-43 (1999)
  MEDLINE   99443870
   PUBMED   10512678
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AB003184.1.
FEATURES             Location/Qualifiers
     source          1..2110
                     /organism="Homo sapiens"
                     /isolate="Caucasian"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q23-q24"
                     /tissue_type="retina"
                     /clone_lib="human retina 5'-STRECH cDNA library
                     (CLONTECH)"
     gene            1..2110
                     /gene="ISLR"
                     /db_xref="LocusID:3671"
                     /db_xref="MIM:602059"
     CDS             99..1385
                     /gene="ISLR"
                     /codon_start=1
                     /product="immunoglobulin superfamily containing
                     leucine-rich repeat"
                     /protein_id="NP_005536.1"
                     /db_xref="GI:5031809"
                     /db_xref="LocusID:3671"
                     /db_xref="MIM:602059"
                     /translation="MQELHLLWWALLLGLAQACPEPCDCGEKYGFQIADCAYRDLESV
                     PPGFPANVTTLSLSANRLPGLPEGAFREVPLLQSLWLAHNEIRTVAAGALASLSHLKS
                     LDLSHNLISDFAWSDLHNLSALQLLKMDSNELTFIPRDAFRSLRALRSLQLNHNRLHT
                     LAEGTFTPLTALSHLQINENPFDCTCGIVWLKTWALTTAVSIPEQDNIACTSPHVLKG
                     TPLSRLPPLPCSAPSVQLSYQPSQDGAELRPGFVLALHCDVDGQPAPQLHWHIQIPSG
                     IVEITSPNVGTDGRALPGTPVASSQPRFQAFANGSLLIPDFGKLEEGTYSCLATNELG
                     SAESSVDVALATPGEGGEDTLGRRFHGKAVEGKGCYTVDNEVQPSGPEDNVVIIYLSR
                     AGNPEAAVAEGVPGQLPPGLLLLGQSLLLFFFLTSF"
     sig_peptide     99..152
                     /gene="ISLR"
     misc_feature    636..785
                     /gene="ISLR"
                     /note="LRRCT; Region: Leucine rich repeat C-terminal
                     domain"
                     /db_xref="CDD:LRRCT"
     misc_feature    636..749
                     /gene="ISLR"
                     /note="LRRCT; Region: Leucine rich repeat C-terminal
                     domain"
                     /db_xref="CDD:pfam01463"
     misc_feature    843..1100
                     /gene="ISLR"
                     /note="IG; Region: Immunoglobulin"
                     /db_xref="CDD:IG"
     misc_feature    153..260
                     /gene="ISLR"
                     /note="amino-flanking region"
     variation       215
                     /gene="ISLR"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1063734"
     repeat_region   261..638
                     /note="leucine-rich repeat"
     misc_feature    639..788
                     /gene="ISLR"
                     /note="carboxy-flanking region"
     variation       755
                     /gene="ISLR"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1052622"
     misc_feature    789..1148
                     /gene="ISLR"
                     /note="immunoglobulin like domain"
     misc_feature    1335..1382
                     /gene="ISLR"
                     /note="transmembrane domain"
     variation       1885
                     /gene="ISLR"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:13259"
     variation       1894
                     /gene="ISLR"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:12287"
     polyA_signal    2089..2094
                     /gene="ISLR"
     polyA_site      2110
                     /gene="ISLR"
                     /note="13 A nucleotides"
BASE COUNT      379 a    693 c    592 g    446 t
ORIGIN      
        1 caggccgagg cagggagaac tctccactcg gaggaggagc tggggtcctc ttccatcccg
       61 tcttcatcct gcctggctgc gtgacctcgg gaggcaccat gcaggagctg catctgctct
      121 ggtgggcgct tctcctgggc ctggctcagg cctgccctga gccctgcgac tgtggggaaa
      181 agtatggctt ccagatcgcc gactgtgcct accgcgacct agaatccgtg ccgcctggct
      241 tcccggccaa tgtgactaca ctgagcctgt cagccaaccg gctgccaggc ttgccggagg
      301 gtgccttcag ggaggtgccc ctgctgcagt cgctgtggct ggcacacaat gagatccgca
      361 cggtggccgc cggagccctg gcctctctga gccatctcaa gagcctggac ctcagccaca
      421 atctcatctc tgactttgcc tggagcgacc tgcacaacct cagtgccctc caattgctca
      481 agatggacag caacgagctg accttcatcc cccgcgacgc cttccgcagc ctccgtgctc
      541 tgcgctcgct gcaactcaac cacaaccgct tgcacacatt ggccgagggc accttcaccc
      601 cgctcaccgc gctgtcccac ctgcagatca acgagaaccc cttcgactgc acctgcggca
      661 tcgtgtggct caagacatgg gccctgacca cggccgtgtc catcccggag caggacaaca
      721 tcgcctgcac ctcaccccat gtgctcaagg gtacgccgct gagccgcctg ccgccactgc
      781 catgctcggc gccctcagtg cagctcagct accaacccag ccaggatggt gccgagctgc
      841 ggcctggttt tgtgctggca ctgcactgtg atgtggacgg gcagccggcc cctcagcttc
      901 actggcacat ccagataccc agtggcattg tggagatcac cagccccaac gtgggcactg
      961 atgggcgtgc cctgcctggc acccctgtgg ccagctccca gccgcgcttc caggcctttg
     1021 ccaatggcag cctgcttatc cccgactttg gcaagctgga ggaaggcacc tacagctgcc
     1081 tggccaccaa tgagctgggc agtgctgaga gctcagtgga cgtggcactg gccacgcccg
     1141 gtgagggtgg tgaggacaca ctggggcgca ggttccatgg caaagcggtt gagggaaagg
     1201 gctgctatac ggttgacaac gaggtgcagc catcagggcc ggaggacaat gtggtcatca
     1261 tctacctcag ccgtgctggg aaccctgagg ctgcagtcgc agaaggggtc cctgggcagc
     1321 tgcccccagg cctgctcctg ctgggccaaa gcctcctcct cttcttcttc ctcacctcct
     1381 tctagcccca cccagggctt ccctaactcc tccccttgcc cctaccaatg cccctttaag
     1441 tgctgcaggg gtctggggtt ggcaactcct gaggcctgca tgggtgactt cacattttcc
     1501 tacctctcct tctaatctct tctagagcac ctgctatccc caacttctag acctgctcca
     1561 aactagtgac taggatagaa tttgatcccc taactcactg tctgcggtgc tcattgctgc
     1621 taacagcatt gcctgtgctc tcctctcagg ggcagcatgc taacggggcg acgtcctaat
     1681 ccaactggga gaagcctcag tggtggaatt ccaggcactg tgactgtcaa gctggcaagg
     1741 gccaggattg ggggaatgga gctggggctt agctgggagg tggtctgaag cagacaggga
     1801 atgggagagg aggatgggaa gtagacagtg gctggtatgg ctctgaggct ccctggggcc
     1861 tgctcaagct cctcctgctc cttgctgttt tctgatgatt tgggggcttg ggagtccctt
     1921 tgtcctcatc tgagactgaa atgtggggat ccaggatggc ttccttcctc ttacccttcc
     1981 tccctcagcc tgcaacctct atcctggaac ctgtcctccc tttctcccca actatgcatc
     2041 tgttgtctgc tcctctgcaa aggccagcca gcttgggagc agcagagaaa taaacagcat
     2101 ttctgatgcc 
//



Revised: July 5, 2002.
 
 


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1: NM_001958. Homo sapiens euka...[gi:4503474] Links  


LOCUS       EEF1A2                  1755 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens eukaryotic translation elongation factor 1 alpha 2
            (EEF1A2), mRNA.
ACCESSION   NM_001958
VERSION     NM_001958.1  GI:4503474
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1755)
  AUTHORS   Knudsen,S.M., Frydenberg,J., Clark,B.F. and Leffers,H.
  TITLE     Tissue-dependent variation in the expression of elongation factor-1
            alpha isoforms: isolation and characterisation of a cDNA encoding a
            novel variant of human elongation-factor 1 alpha
  JOURNAL   Eur. J. Biochem. 215 (3), 549-554 (1993)
  MEDLINE   93358875
   PUBMED   8354261
REFERENCE   2  (bases 1 to 1755)
  AUTHORS   Lund A, Knudsen SM, Vissing H, Clark B and Tommerup N.
  TITLE     Assignment of human elongation factor 1alpha genes: EEF1A maps to
            chromosome 6q14 and EEF1A2 to 20q13.3
  JOURNAL   Genomics 36 (2), 359-361 (1996)
  MEDLINE   96411697
   PUBMED   8812466
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from X70940.1.
FEATURES             Location/Qualifiers
     source          1..1755
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.3"
                     /clone_lib="lambda ZAPII; AMA"
     gene            1..1755
                     /gene="EEF1A2"
                     /note="EF1A"
                     /db_xref="LocusID:1917"
                     /db_xref="MIM:602959"
     CDS             84..1475
                     /gene="EEF1A2"
                     /codon_start=1
                     /product="eukaryotic translation elongation factor 1 alpha
                     2"
                     /protein_id="NP_001949.1"
                     /db_xref="GI:4503475"
                     /db_xref="LocusID:1917"
                     /db_xref="MIM:602959"
                     /translation="MGKEKTHINIVVIGHVDSGKSTTTGHLIYKCGGIDKRTIEKFEK
                     EAAEMGKGSFKYAWVLDKLKAERERGITIDISLWKFETTKYYITIIDAPGHRDFIKNM
                     ITGTSQADCAVLIVAAGVGEFEAGISKNGQTREHALLAYTLGVKQLIVGVNKMDSTEP
                     AYSEKRYDEIVKEVSAYIKKIGYNPATVPFVPISGWHGDNMLEPSPNMPWFKGWKVER
                     KEGNASGVSLLEALDTILPPTRPTDKPLRLPLQDVYKIGGIGTVPVGRVETGILRPGM
                     VVTFAPVNITTEVKSVEMHHEALSEALPGDNVGFNVKNVSVKDIRRGNVCGDSKSDPP
                     QEAAQFTSQVIILNHPGQISAGYSPVIDCHTAHIACKFAELKEKIDRRSGKKLEDNPK
                     SLKSGDAAIVEMVPGKPMCVESFSQYPPLGRFAVRDMRQTVAVGVIKNVEKKSGGAGK
                     VTKSAQKAQKAGK"
     misc_feature    96..1331
                     /gene="EEF1A2"
                     /note="GTP_EFTU; Region: Elongation factor Tu family"
                     /db_xref="CDD:pfam00009"
     variation       complement(290)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3818681"
     variation       complement(458)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2274861"
     variation       complement(563)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2274860"
     variation       1508
                     /gene="EEF1A2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2750402"
     variation       1562
                     /gene="EEF1A2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2750403"
     polyA_signal    1736..1741
                     /gene="EEF1A2"
BASE COUNT      368 a    585 c    548 g    254 t
ORIGIN      
        1 cctcggctcc ggaatcactg cagcccccct cgccctgagc cagagcaccc cgggtcccgc
       61 cagcccctca cactcccagc aaaatgggca aggagaagac ccacatcaac atcgtggtca
      121 tcggccacgt ggactccgga aagtccacca ccacgggcca cctcatctac aaatgcggag
      181 gtattgacaa aaggaccatt gagaagttcg agaaggaggc ggctgagatg gggaagggat
      241 ccttcaagta tgcctgggtg ctggacaagc tgaaggcgga gcgtgagcgc ggcatcacca
      301 tcgacatctc cctctggaag ttcgagacca ccaagtacta catcaccatc atcgatgccc
      361 ccggccaccg cgacttcatc aagaacatga tcacgggtac atcccaggcg gactgcgcag
      421 tgctgatcgt ggcggcgggc gtgggcgagt tcgaggcggg catctccaag aatgggcaga
      481 cgcgggagca tgccctgctg gcctacacgc tgggtgtgaa gcagctcatc gtgggcgtga
      541 acaaaatgga ctccacagag ccggcctaca gcgagaagcg ctacgacgag atcgtcaagg
      601 aagtcagcgc ctacatcaag aagatcggct acaacccggc caccgtgccc tttgtgccca
      661 tctccggctg gcacggcgac aacatgctgg agccctcccc caacatgccg tggttcaagg
      721 gctggaaggt ggagcgtaag gagggcaacg caagcggcgt gtccctgctg gaggccctgg
      781 acaccatcct gccccccacg cgccccacgg acaagcccct gcgcctgccg ctgcaggacg
      841 tgtacaagat tggcggcatt ggcacggtgc ccgtgggccg ggtggagacc ggcatcctgc
      901 ggccgggcat ggtggtgacc tttgcgccag tgaacatcac cactgaggtg aagtcagtgg
      961 agatgcacca cgaggctctg agcgaagctc tgcccggcga caacgtcggc ttcaatgtga
     1021 agaacgtgtc ggtgaaggac atccggcggg gcaacgtgtg tggggacagc aagtctgacc
     1081 cgccgcagga ggctgctcag ttcacctccc aggtcatcat cctgaaccac ccggggcaga
     1141 ttagcgccgg ctactccccg gtcatcgact gccacacagc ccacatcgcc tgcaagtttg
     1201 cggagctgaa ggagaagatt gaccggcgct ctggcaagaa gctggaggac aaccccaagt
     1261 ccctgaagtc tggagacgcg gccatcgtgg agatggtgcc gggaaagccc atgtgtgtgg
     1321 agagcttctc ccagtacccg cctctcggcc gcttcgccgt gcgcgacatg aggcagacgg
     1381 tggccgtagg cgtcatcaag aacgtggaaa agaagagcgg cggcgccggc aaggtcacca
     1441 agtcggcgca gaaggcgcag aaggcgggca agtgaagcgc gggccgcggc gcgaccctcc
     1501 ccggcggcgc cgcgctccga accccggccc ggcccccgcc ccgcccccgc cccgcgcgcc
     1561 gctccggcgc cccgcacccc cgccaggcgc atgtctgcac ctccgcttgc cagaggccct
     1621 cggtcagcga ctggatgctc gccatcaagg tccagtggaa gttcttcaag aggaaaggcg
     1681 cccccgcccc aggcttccgc gcccagcgct cgccacgctc agtgcccgtt ttaccaataa
     1741 actgagcgac cccag
//



Revised: July 5, 2002.
 
 


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1: NM_006288. Homo sapiens Thy-...[gi:19923361] Links  


LOCUS       THY1                    1791 bp    mRNA    linear   PRI 04-APR-2002
DEFINITION  Homo sapiens Thy-1 cell surface antigen (THY1), mRNA.
ACCESSION   NM_006288
VERSION     NM_006288.2  GI:19923361
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1791)
  AUTHORS   Poustka,A., Wellenreuther,R., Mewes,H.W., Weil,B. and Wiemann,S.
  TITLE     Homo sapiens Thy-1 cell surface antigen (THY1), mRNA
  JOURNAL   Unpublished (2000)
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AL161958.1.
            On Apr 4, 2002 this sequence version replaced gi:5454117.
FEATURES             Location/Qualifiers
     source          1..1791
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22.3-q23"
                     /clone="DKFZp761B15121"
                     /tissue_type="amygdala"
                     /clone_lib="761 (synonym: hamy2). Vector pSport1; host
                     DH10B; sites NotI + SalI"
                     /dev_stage="adult"
     gene            1..1791
                     /gene="THY1"
                     /note="CD90"
                     /db_xref="LocusID:7070"
                     /db_xref="MIM:188230"
     CDS             57..542
                     /gene="THY1"
                     /note="THY1 (Homo sapiens); Thy-1 T-cell antigen"
                     /codon_start=1
                     /product="Thy-1 cell surface antigen"
                     /protein_id="NP_006279.2"
                     /db_xref="GI:19923362"
                     /db_xref="LocusID:7070"
                     /db_xref="MIM:188230"
                     /translation="MNLAISIALLLTVLQVSRGQKVTSLTACLVDQSLRLDCRHENTS
                     SSPIQYEFSLTRETKKHVLFGTVGVPEHTYRSRTNFTSKYNMKVLYLSAFTSKDEGTY
                     TCALHHSGHSPPISSQNVTVLRDKLVKCEGISLLAQNTSWLLLLLLSLSLLQATDFMS
                     L"
     misc_feature    153..371
                     /gene="THY1"
                     /note="IGv; Region: Immunoglobulin V-Type"
                     /db_xref="CDD:smart00406"
     variation       626
                     /gene="THY1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1054735"
     variation       complement(890)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:13770"
     variation       1407
                     /gene="THY1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1055370"
     variation       1473
                     /gene="THY1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1064070"
     variation       1708
                     /gene="THY1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1055922"
     polyA_signal    1748..1753
                     /gene="THY1"
     polyA_site      1771
                     /gene="THY1"
BASE COUNT      415 a    544 c    471 g    361 t
ORIGIN      
        1 ggaggctgca gcagcggaag accccagtcc agatccagga ctgagatccc agaaccatga
       61 acctggccat cagcatcgct ctcctgctaa cagtcttgca ggtctcccga gggcagaagg
      121 tgaccagcct aacggcctgc ctagtggacc agagccttcg tctggactgc cgccatgaga
      181 ataccagcag ttcacccatc cagtacgagt tcagcctgac ccgtgagaca aagaagcacg
      241 tgctctttgg cactgtgggg gtgcctgagc acacataccg ctcccgaacc aacttcacca
      301 gcaaatacaa catgaaggtc ctctacttat ccgccttcac tagcaaggac gagggcacct
      361 acacgtgtgc actccaccac tctggccatt ccccacccat ctcctcccag aacgtcacag
      421 tgctcagaga caaactggtc aagtgtgagg gcatcagcct gctggctcag aacacctcgt
      481 ggctgctgct gctcctgctc tccctctccc tcctccaggc cacggatttc atgtccctgt
      541 gactggtggg gcccatggag gagacaggaa gcctcaagtt ccagtgcaga gatcctactt
      601 ctctgagtca gctgaccccc tccccgcaat ccctcaaacc ttgaggagaa gtggggaccc
      661 cacccctcat caggagttcc agtgctgcat gcgattatct acccacgtcc acgcggccac
      721 ctcaccctct ccgcacacct ctggctgtct ttttgtactt tttgttccag agctgcttct
      781 gtctggttta tttaggtttt atccttcctt ttctttgaga gttcgtgaag agggaagcca
      841 ggattgggga cctgatggag agtgagagca tgtgaggggt agtgggatgg tggggtacca
      901 gccactggag gggtcatcct tgcccatcgg gaccagaaac ctgggagaga cttggatgag
      961 gagtggttgg gctgtgcctg ggcctagcac ggacatggtc tgtcctgaca gcactcctcg
     1021 gcaggcatgg ctggtgcctg aagaccccag atgtgagggc accaccaaga atttgtggcc
     1081 taccttgtga gggagagaac tgagcatctc cagcattctc agccacaacc aaaaaaaaat
     1141 aaaaagggca gccctcctta ccactgtgga agtccctcag aggccttggg gcatgaccca
     1201 gtgaagatgc aggtttgacc aggaaagcag cgctagtgga gggttggaga aggaggtaag
     1261 gatgagggtt catcatccct ccctgcctaa ggaagctaaa agcatggccc tgctgcccct
     1321 ccctgcctcc acccacagtg gagagggcta caaaggagga caagaccctc tcaggctgtc
     1381 ccaagctccc aagagcttcc agagctctga cccacagcct ccaagtcagg tggggtggag
     1441 tcccagagct gcacagggtt tggcccaagt ttctaaggga ggcacttcct cccctcgccc
     1501 atcagtgcca gcccctgctg gctggtgcct gagcccctca gacagccccc tgccccgcag
     1561 gcctgccttc tcagggactt ctgcggggcc tgaggcaagc catggagtga gacccaggag
     1621 ccggacactt ctcaggaaat ggcttttccc aacccccagc ccccacccgg tggttcttcc
     1681 tgttctgtga ctgtgtatag tgccaccaca gcttatggca tctcattgag gacaaagaaa
     1741 actgcacaat aaaaccaagc ctctggaatc taaaaaaaaa aaaaaaaaaa a
//



Revised: July 5, 2002.
 
 


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NCBI | NLM | NIH 

 

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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001711. Homo sapiens bigl...[gi:19718760] Links  


LOCUS       BGN                     2367 bp    mRNA    linear   PRI 25-MAR-2002
DEFINITION  Homo sapiens biglycan (BGN), mRNA.
ACCESSION   NM_001711
VERSION     NM_001711.2  GI:19718760
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2367)
  AUTHORS   Fisher,L.W., Hawkins,G.R., Tuross,N. and Termine,J.D.
  TITLE     Purification and partial characterization of small proteoglycans I
            and II, bone sialoproteins I and II, and osteonectin from the
            mineral compartment of developing human bone
  JOURNAL   J. Biol. Chem. 262 (20), 9702-9708 (1987)
  MEDLINE   87250639
   PUBMED   3597437
REFERENCE   2  (bases 1 to 2367)
  AUTHORS   Fisher,L.W., Termine,J.D. and Young,M.F.
  TITLE     Deduced protein sequence of bone small proteoglycan I (biglycan)
            shows homology with proteoglycan II (decorin) and several
            nonconnective tissue proteins in a variety of species
  JOURNAL   J. Biol. Chem. 264 (8), 4571-4576 (1989)
  MEDLINE   89174714
   PUBMED   2647739
REFERENCE   3  (bases 1 to 2367)
  AUTHORS   Roughley,P.J. and White,R.J.
  TITLE     Dermatan sulphate proteoglycans of human articular cartilage. The
            properties of dermatan sulphate proteoglycans I and II
  JOURNAL   Biochem. J. 262 (3), 823-827 (1989)
  MEDLINE   90073579
   PUBMED   2590169
REFERENCE   4  (bases 1 to 2367)
  AUTHORS   McBride,O.W., Fisher,L.W. and Young,M.F.
  TITLE     Localization of PGI (biglycan, BGN) and PGII (decorin, DCN, PG-40)
            genes on human chromosomes Xq13-qter and 12q, respectively
  JOURNAL   Genomics 6 (2), 219-225 (1990)
  MEDLINE   90169979
   PUBMED   1968422
REFERENCE   5  (bases 1 to 2367)
  AUTHORS   Fleischmajer,R., Fisher,L.W., MacDonald,E.D., Jacobs,L. Jr.,
            Perlish,J.S. and Termine,J.D.
  TITLE     Decorin interacts with fibrillar collagen of embryonic and adult
            human skin
  JOURNAL   J. Struct. Biol. 106 (1), 82-90 (1991)
  MEDLINE   91283344
   PUBMED   2059554
REFERENCE   6  (bases 1 to 2367)
  AUTHORS   Fisher,L.W., Heegaard,A.M., Vetter,U., Vogel,W., Just,W.,
            Termine,J.D. and Young,M.F.
  TITLE     Human biglycan gene. Putative promoter, intron-exon junctions, and
            chromosomal localization
  JOURNAL   J. Biol. Chem. 266 (22), 14371-14377 (1991)
  MEDLINE   91317791
   PUBMED   1860845
REFERENCE   7  (bases 1 to 2367)
  AUTHORS   Traupe,H., van den Ouweland,A.M., van Oost,B.A., Vogel,W.,
            Vetter,U., Warren,S.T., Rocchi,M., Darlison,M.G. and Ropers,H.H.
  TITLE     Fine mapping of the human biglycan (BGN) gene within the Xq28
            region employing a hybrid cell panel
  JOURNAL   Genomics 13 (2), 481-483 (1992)
  MEDLINE   92307695
   PUBMED   1612609
REFERENCE   8  (bases 1 to 2367)
  AUTHORS   Das,S., Metzenberg,A., Pai,G.S. and Gitschier,J.
  TITLE     Mutational analysis of the biglycan gene excludes it as a candidate
            for X-linked dominant chondrodysplasia punctata, dyskeratosis
            congenita, and incontinentia pigmenti
  JOURNAL   Am. J. Hum. Genet. 54 (5), 922-925 (1994)
  MEDLINE   94234162
   PUBMED   8178833
REFERENCE   9  (bases 1 to 2367)
  AUTHORS   Geerkens,C., Vetter,U., Just,W., Fedarko,N.S., Fisher,L.W.,
            Young,M.F., Termine,J.D., Robey,P.G., Wohrle,D. and Vogel,W.
  TITLE     The X-chromosomal human biglycan gene BGN is subject to X
            inactivation but is transcribed like an X-Y homologous gene
  JOURNAL   Hum. Genet. 96 (1), 44-52 (1995)
  MEDLINE   95331765
   PUBMED   7607653
REFERENCE   10 (bases 1 to 2367)
  AUTHORS   Xu,T., Bianco,P., Fisher,L.W., Longenecker,G., Smith,E.,
            Goldstein,S., Bonadio,J., Boskey,A., Heegaard,A.M., Sommer,B.,
            Satomura,K., Dominguez,P., Zhao,C., Kulkarni,A.B., Robey,P.G. and
            Young,M.F.
  TITLE     Targeted disruption of the biglycan gene leads to an
            osteoporosis-like phenotype in mice
  JOURNAL   Nat. Genet. 20 (1), 78-82 (1998)
  MEDLINE   98400263
   PUBMED   9731537
REFERENCE   11 (bases 1 to 2367)
  AUTHORS   Inoue,A., Hayakawa,T., Otsuka,E., Kamiya,A., Suzuki,Y., Hirose,S.
            and Hagiwara,H.
  TITLE     Correlation between induction of expression of biglycan and
            mineralization by C-type natriuretic peptide in osteoblastic cells
  JOURNAL   J. Biochem. 125 (1), 103-108 (1999)
  MEDLINE   99098831
   PUBMED   9880804
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC002416.1 and M65151.1.
            On Mar 26, 2002 this sequence version replaced gi:4502402.
            Summary: The protein encoded by this gene is a small cellular or
            pericellular matrix proteoglycan that is closely related in
            structure to two other small proteoglycans, decorin and
            fibromodulin. The encoded protein and decorin are thought to be the
            result of a gene duplication. Decorin contains one attached
            glycosaminoglycan chain, while this protein probably contains two
            chains. For this reason, this protein is called biglycan. This
            protein is thought to function in connective tissue metabolism by
            binding to collagen fibrils and transfering growth factor-beta. It
            may promote neuronal survival. This gene is a candidate gene for
            the Happle syndrome.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2367
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
                     /clone="MGC:2298 IMAGE:3162633"
                     /clone_lib="NIH_MGC_19"
     gene            1..2367
                     /gene="BGN"
                     /note="PGI; DSPG1; PG-S1"
                     /db_xref="LocusID:633"
                     /db_xref="MIM:301870"
     CDS             145..1251
                     /gene="BGN"
                     /note="bone/cartilage proteoglycan-I; dermatan sulphate
                     proteoglycan I"
                     /codon_start=1
                     /product="biglycan preproprotein"
                     /protein_id="NP_001702.1"
                     /db_xref="GI:4502403"
                     /db_xref="LocusID:633"
                     /db_xref="MIM:301870"
                     /translation="MWPLWRLVSLLALSQALPFEQRGFWDFTLDDGPFMMNDEEASGA
                     DTSGVLDPDSVTPTYSAMCPFGCHCHLRVVQCSDLGLKSVPKEISPDTTLLDLQNNDI
                     SELRKDDFKGLQHLYALVLVNNKISKIHEKAFSPLRKLQKLYISKNHLVEIPPNLPSS
                     LVELRIHDNRIRKVPKGVFSGLRNMNCIEMGGNPLENSGFEPGAFDGLKLNYLRISEA
                     KLTGIPKDLPETLNELHLDHNKIQAIELEDLLRYSKLYRLGLGHNQIRMIENGSLSFL
                     PTLRELHLDNNKLARVPSGLPDLKLLQVVYLHSNNITKVGVNDFCPMGFGVKRAYYNG
                     ISLFNNPVPYWEVQPATFRCVTDRLAIQFGNYKK"
     sig_peptide     145..192
                     /gene="BGN"
     mat_peptide     256..1248
                     /gene="BGN"
                     /product="biglycan"
     misc_feature    328..426
                     /gene="BGN"
                     /note="LRRNT; Region: Leucine rich repeat N-terminal
                     domain"
                     /db_xref="CDD:smart00013"
     misc_feature    328..411
                     /gene="BGN"
                     /note="LRRNT; Region: Leucine rich repeat N-terminal
                     domain"
                     /db_xref="CDD:pfam01462"
     misc_feature    193..1248
                     /gene="BGN"
                     /note="biglycan proprotein"
     variation       285
                     /gene="BGN"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:4833"
     variation       1379
                     /gene="BGN"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1042103"
     variation       1502
                     /gene="BGN"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:743641"
     variation       1569
                     /gene="BGN"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:743642"
     variation       complement(1834..1835)
                     /allele="-"
                     /allele="AGAGAG"
                     /db_xref="dbSNP:3079144"
     variation       complement(2069)
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:17678"
     variation       2087
                     /gene="BGN"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2980054"
     variation       2273
                     /gene="BGN"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1042570"
     variation       2300
                     /gene="BGN"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1042614"
     polyA_signal    2323..2328
                     /gene="BGN"
                     /evidence=experimental
     variation       2334
                     /gene="BGN"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1126843"
     variation       2334
                     /gene="BGN"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3182126"
     polyA_site      2346
                     /gene="BGN"
                     /evidence=experimental
BASE COUNT      461 a    840 c    590 g    476 t
ORIGIN      
        1 tctctccaca aactgcccag gagtgagtag ctgctttcgg tccgccggac acaccggaca
       61 gatagacgtg cggacggccc accaccccag cccgccaact agtcagcctg cgcctggcgc
      121 ctcccctctc caggtccatc cgccatgtgg cccctgtggc gcctcgtgtc tctgctggcc
      181 ctgagccagg ccctgccctt tgagcagaga ggcttctggg acttcaccct ggacgatggg
      241 ccattcatga tgaacgatga ggaagcttcg ggcgctgaca cctcaggcgt cctggacccg
      301 gactctgtca cacccaccta cagcgccatg tgtcctttcg gctgccactg ccacctgcgg
      361 gtggttcagt gctccgacct gggtctgaag tctgtgccca aagagatctc ccctgacacc
      421 acgctgctgg acctgcagaa caacgacatc tccgagctcc gcaaggatga cttcaagggt
      481 ctccagcacc tctacgccct cgtcctggtg aacaacaaga tctccaagat ccatgagaag
      541 gccttcagcc cactgcggaa gctgcagaag ctctacatct ccaagaacca cctggtggag
      601 atcccgccca acctacccag ctccctggtg gagctccgca tccacgacaa ccgcatccgc
      661 aaggtgccca agggagtgtt cagcgggctc cggaacatga actgcatcga gatgggcggg
      721 aacccactgg agaacagtgg ctttgaacct ggagccttcg atggcctgaa gctcaactac
      781 ctgcgcatct cagaggccaa gctgactggc atccccaaag acctccctga gaccctgaat
      841 gaactccacc tagaccacaa caaaatccag gccatcgaac tggaggacct gcttcgctac
      901 tccaagctgt acaggctggg cctaggccac aaccagatca ggatgatcga gaacgggagc
      961 ctgagcttcc tgcccaccct ccgggagctc cacttggaca acaacaagtt ggccagggtg
     1021 ccctcagggc tcccagacct caagctcctc caggtggtct atctgcactc caacaacatc
     1081 accaaagtgg gtgtcaacga cttctgtccc atgggcttcg gggtgaagcg ggcctactac
     1141 aacggcatca gcctcttcaa caaccccgtg ccctactggg aggtgcagcc ggccactttc
     1201 cgctgcgtca ctgaccgcct ggccatccag tttggcaact acaaaaagta gaggcagctg
     1261 cagccaccgc ggggcctcag tgggggtctc tggggaacac agccagacat cctgatgggg
     1321 aggcagagcc aggaagctaa gccagggccc agctgcgtcc aacccagccc cccacctcgg
     1381 gtccctgacc ccagctcgat gccccatcac cgcctctccc tggctcccaa gggtgcaggt
     1441 gggcgcaagg cccggccccc atcacatgtt cccttggcct cagagctgcc cctgctctcc
     1501 caccacagcc acccagaggc accccatgaa gcttttttct cgttcactcc caaacccaag
     1561 tgtccaaggc tccagtccta ggagaacagt ccctgggtca gcagccagga ggcggtccat
     1621 aagaatgggg acagtgggct ctgccagggc tgccgcacct gtccagacac acatgttctg
     1681 ttcctcctcc tcatgcattt ccagcctttc aaccctcccc gactctgcgg ctcccctcag
     1741 cccccttgca agttcatggc ctgtccctcc cagacccctg ctccactggc ccttcgacca
     1801 gtcctccctt ctgttctctc tttccccgtc cttcctctct ctctctctct ctctctgtgt
     1861 gtgtgtgtgt gtgtgtgtgt gtgtgtgtgt gtgtgtgtgt gtgtgtcttg tgcttcctca
     1921 gacctttctc gcttctgagc ttggtggcct gttccctcca tctctccgaa cctggcttcg
     1981 cctgtccctt tcactccaca ccctctggcc ttctgccttg agctgggact gctttctgtc
     2041 tgtccggcct gcacccagcc cctgcccaca aaaccccagg gacagcggtc tccccagcct
     2101 gccctgctca ggccttgccc ccaaacctgt actgtcccgg aggaggttgg gaggtggagg
     2161 cccagcatcc cgcgcagatg acaccatcaa ccgccagagt cccagacacc ggttttccta
     2221 gaagcccctc acccccactg gcccactggt ggctaggtct ccccttatcc ttctggtcca
     2281 gcgcaaggag gggctgcttc tgaggtcggt ggctgtcttt ccattaaaga aacaccgtgc
     2341 aacgtgaaaa aaaaaaaaaa aaaaaaa
//



Revised: July 5, 2002.
 
 


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1: NM_000090. Homo sapiens coll...[gi:15149480] Links  


LOCUS       COL3A1                  5489 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens collagen, type III, alpha 1 (Ehlers-Danlos syndrome
            type IV, autosomal dominant) (COL3A1), mRNA.
ACCESSION   NM_000090
VERSION     NM_000090.2  GI:15149480
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5489)
  AUTHORS   Loidl,H.R., Brinker,J.M., May,M., Pihlajaniemi,T., Morrow,S.,
            Rosenbloom,J. and Myers,J.C.
  TITLE     Molecular cloning and carboxyl-propeptide analysis of human type
            III procollagen
  JOURNAL   Nucleic Acids Res. 12 (24), 9383-9394 (1984)
  MEDLINE   85087944
   PUBMED   6096827
REFERENCE   2  (bases 1 to 5489)
  AUTHORS   Emanuel,B.S., Cannizzaro,L.A., Seyer,J.M. and Myers,J.C.
  TITLE     Human alpha 1(III) and alpha 2(V) procollagen genes are located on
            the long arm of chromosome 2
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 82 (10), 3385-3389 (1985)
  MEDLINE   85216505
   PUBMED   3858826
REFERENCE   3  (bases 1 to 5489)
  AUTHORS   Miskulin,M., Dalgleish,R., Kluve-Beckerman,B., Rennard,S.I.,
            Tolstoshev,P., Brantly,M. and Crystal,R.G.
  TITLE     Human type III collagen gene expression is coordinately modulated
            with the type I collagen genes during fibroblast growth
  JOURNAL   Biochemistry 25 (6), 1408-1413 (1986)
  MEDLINE   86187804
   PUBMED   3754462
REFERENCE   4  (bases 1 to 5489)
  AUTHORS   Mankoo,B.S. and Dalgleish,R.
  TITLE     Human pro alpha 1(III) collagen: cDNA sequence for the 3' end
  JOURNAL   Nucleic Acids Res. 16 (5), 2337 (1988)
  MEDLINE   88189827
   PUBMED   3357782
REFERENCE   5  (bases 1 to 5489)
  AUTHORS   Toman,P.D., Ricca,G.A. and de Crombrugghe,B.
  TITLE     Nucleotide sequence of a cDNA coding for the amino-terminal region
            of human prepro alpha 1(III) collagen
  JOURNAL   Nucleic Acids Res. 16 (14B), 7201 (1988)
  MEDLINE   88303360
   PUBMED   3405773
REFERENCE   6  (bases 1 to 5489)
  AUTHORS   Molyneux,K. and Dalgleish,R.
  TITLE     Human type III collagen 'variant' is a cDNA cloning artefact
  JOURNAL   Nucleic Acids Res. 16 (24), 11833 (1988)
  MEDLINE   89098346
   PUBMED   3211760
REFERENCE   7  (bases 1 to 5489)
  AUTHORS   Ala-Kokko,L., Kontusaari,S., Baldwin,C.T., Kuivaniemi,H. and
            Prockop,D.J.
  TITLE     Structure of cDNA clones coding for the entire prepro alpha 1 (III)
            chain of human type III procollagen. Differences in protein
            structure from type I procollagen and conservation of codon
            preferences
  JOURNAL   Biochem. J. 260 (2), 509-516 (1989)
  MEDLINE   89350838
   PUBMED   2764886
REFERENCE   8  (bases 1 to 5489)
  AUTHORS   Janeczko,R.A. and Ramirez,F.
  TITLE     Nucleotide and amino acid sequences of the entire human alpha 1
            (III) collagen
  JOURNAL   Nucleic Acids Res. 17 (16), 6742 (1989)
  MEDLINE   89386015
   PUBMED   2780304
REFERENCE   9  (bases 1 to 5489)
  AUTHORS   Cutting,G.R., McGinniss,M.J., Kasch,L.M., Tsipouras,P. and
            Antonarakis,S.E.
  TITLE     Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a
            35-kb region on human chromosome 2
  JOURNAL   Genomics 8 (2), 407-410 (1990)
  MEDLINE   91065664
   PUBMED   1979060
REFERENCE   10 (bases 1 to 5489)
  AUTHORS   Cole,W.G., Chiodo,A.A., Lamande,S.R., Janeczko,R., Ramirez,F.,
            Dahl,H.H., Chan,D. and Bateman,J.F.
  TITLE     A base substitution at a splice site in the COL3A1 gene causes exon
            skipping and generates abnormal type III procollagen in a patient
            with Ehlers-Danlos syndrome type IV
  JOURNAL   J. Biol. Chem. 265 (28), 17070-17077 (1990)
  MEDLINE   91009133
   PUBMED   2145268
REFERENCE   11 (bases 1 to 5489)
  AUTHORS   Chiodo,A.A., Sillence,D.O., Cole,W.G. and Bateman,J.F.
  TITLE     Abnormal type III collagen produced by an exon-17-skipping mutation
            of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not
            incorporated into the extracellular matrix
  JOURNAL   Biochem. J. 311 (Pt 3), 939-943 (1995)
  MEDLINE   96067614
   PUBMED   7487954
REFERENCE   12 (bases 1 to 5489)
  AUTHORS   Limongi,M.Z., Pelliccia,F. and Rocchi,A.
  TITLE     Assignment of the human nebulin gene (NEB) to chromosome band
            2q24.2 and the alpha 1 (III) collagen gene (COL3A1) to chromosome
            band 2q32.2 by in situ hybridization; the FRA2G common fragile site
            lies between the two genes in the 2q31 band
  JOURNAL   Cytogenet. Cell Genet. 77 (3-4), 259-260 (1997)
  MEDLINE   97430831
   PUBMED   9284930
REFERENCE   13 (bases 1 to 5489)
  AUTHORS   Schwarze,U., Schievink,W.I., Petty,E., Jaff,M.R.,
            Babovic-Vuksanovic,D., Cherry,K.J., Pepin,M. and Byers,P.H.
  TITLE     Haploinsufficiency for one COL3A1 allele of type III procollagen
            results in a phenotype similar to the vascular form of
            Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV
  JOURNAL   Am. J. Hum. Genet. 69 (5), 989-1001 (2001)
  MEDLINE   21473749
   PUBMED   11577371
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X14420.1, AI755052.1 and
            M26939.1.
            On Aug 13, 2001 this sequence version replaced gi:4502950.
            Summary: This gene encodes a fibrillar collagen that is found in
            extensible connective tissues such as skin, lung, and the vascular
            system, frequently in association with type I collagen. Mutations
            in this gene are associated with Ehlers-Danlos syndrome type IV,
            and with aortic and arterial aneurysms. Although alternate
            transcripts have been detected for this gene, they are the result
            of mutations; these mutations alter splicing, often leading to the
            exclusion of multiple exons.
FEATURES             Location/Qualifiers
     source          1..5489
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31"
     gene            1..5489
                     /gene="COL3A1"
                     /db_xref="LocusID:1281"
                     /db_xref="MIM:120180"
     CDS             118..4518
                     /gene="COL3A1"
                     /note="collagen, fetal"
                     /codon_start=1
                     /product="alpha 1 type III collagen preproprotein"
                     /protein_id="NP_000081.1"
                     /db_xref="GI:4502951"
                     /db_xref="LocusID:1281"
                     /db_xref="MIM:120180"
                     /translation="MMSFVQKGSWLLLALLHPTIILAQQEAVEGGCSHLGQSYADRDV
                     WKPEPCQICVCDSGSVLCDDIICDDQELDCPNPEIPFGECCAVCPQPPTAPTRPPNGQ
                     GPQGPKGDPGPPGIPGRNGDPGIPGQPGSPGSPGPPGICESCPTGPQNYSPQYDSYDV
                     KSGVAVGGLAGYPGPAGPPGPPGPPGTSGHPGSPGSPGYQGPPGEPGQAGPSGPPGPP
                     GAIGPSGPAGKDGESGRPGRPGERGLPGPPGIKGPAGIPGFPGMKGHRGFDGRNGEKG
                     ETGAPGLKGENGLPGENGAPGPMGPRGAPGERGRPGLPGAAGARGNDGARGSDGQPGP
                     PGPPGTAGFPGSPGAKGEVGPAGSPGSNGAPGQRGEPGPQGHAGAQGPPGPPGINGSP
                     GGKGEMGPAGIPGAPGLMGARGPPGPAGANGAPGLRGGAGEPGKNGAKGEPGPRGERG
                     EAGIPGVPGAKGEDGKDGSPGEPGANGLPGAAGERGAPGFRGPAGPNGIPGEKGPAGE
                     RGAPGPAGPRGAAGEPGRDGVPGGPGMRGMPGSPGGPGSDGKPGPPGSQGESGRPGPP
                     GPSGPRGQPGVMGFPGPKGNDGAPGKNGERGGPGGPGPQGPPGKNGETGPQGPPGPTG
                     PGGDKGDTGPPGPQGLQGLPGTGGPPGENGKPGEPGPKGDAGAPGAPGGKGDAGAPGE
                     RGPPGLAGAPGLRGGAGPPGPEGGKGAAGPPGPPGAAGTPGLQGMPGERGGLGSPGPK
                     GDKGEPGGPGADGVPGKDGPRGPTGPIGPPGPAGQPGDKGEGGAPGLPGIAGPRGSPG
                     ERGETGPPGPAGFPGAPGQNGEPGGKGERGAPGEKGEGGPPGVAGPPGGSGPAGPPGP
                     QGVKGERGSPGGPGAAGFPGARGLPGPPGSNGNPGPPGPSGSPGKDGPPGPAGNTGAP
                     GSPGVSGPKGDAGQPGEKGSPGAQGPPGAPGPLGIAGITGARGLAGPPGMPGPRGSPG
                     PQGVKGESGKPGANGLSGERGPPGPQGLPGLAGTAGEPGRDGNPGSDGLPGRDGSPGG
                     KGDRGENGSPGAPGAPGHPGPPGPVGPAGKSGDRGESGPAGPAGAPGPAGSRGAPGPQ
                     GPRGDKGETGERGAAGIKGHRGFPGNPGAPGSPGPAGQQGAIGSPGPAGPRGPVGPSG
                     PPGKDGTSGHPGPIGPPGPRGNRGERGSEGSPGHPGQPGPPGPPGAPGPCCGGVGAAA
                     IAGIGGEKAGGFAPYYGDEPMDFKINTDEIMTSLKSVNGQIESLISPDGSRKNPARNC
                     RDLKFCHPELKSGEYWVDPNQGCKLDAIKVFCNMETGETCISANPLNVPRKHWWTDSS
                     AEKKHVWFGESMDGGFQFSYGNPELPEDVLDVQLAFLRLLSSRASQNITYHCKNSIAY
                     MDQASGNVKKALKLMGSNEGEFKAEGNSKFTYTVLEDGCTKHTGEWSKTVFEYRTRKA
                     VRLPIVDIAPYDIGGPDQEFGVDVGPVCFL"
     sig_peptide     118..186
                     /gene="COL3A1"
     misc_feature    211..381
                     /gene="COL3A1"
                     /note="Region: pfam00093, vwc, von Willebrand factor type
                     C domain. The high cutoff was used to prevent overlap with
                     pfam00094"
     misc_feature    211..381
                     /gene="COL3A1"
                     /note="Region: smart00214, VWC, von Willebrand factor
                     (vWF) type C domain"
     mat_peptide     562..3732
                     /gene="COL3A1"
                     /product="alpha 1 type III collagen"
     misc_feature    3808..4515
                     /gene="COL3A1"
                     /note="Region: smart00038, COLFI, Fibrillar collagens
                     C-terminal domain; Found at C-termini of fibrillar
                     collagens: Ephydatia muelleri procollagen EMF1alpha,
                     vertebrate collagens alpha(1)III, alpha(1)II, alpha(2)V
                     etc"
     misc_feature    3859..4512
                     /gene="COL3A1"
                     /note="Region: pfam01410, COLFI, Fibrillar collagen
                     C-terminal domain. Found at C-termini of fibrillar
                     collagens: Ephydatia muelleri procollagen EMF1 alpha,
                     vertebrate collagens alpha(1)III, alpha(1)II, alpha(2)V
                     etc"
     misc_feature    187..4515
                     /gene="COL3A1"
                     /note="Region: alpha 1 type III collagen proprotein"
     variation       2119
                     /gene="COL3A1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1801183"
     variation       2209
                     /gene="COL3A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3817316"
     variation       2361
                     /gene="COL3A1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1801184"
     variation       3730
                     /gene="COL3A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2271683"
     variation       4421
                     /gene="COL3A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3197045"
     variation       4561
                     /gene="COL3A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:8224"
     variation       4606
                     /gene="COL3A1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:11162"
     variation       5359
                     /gene="COL3A1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3106802"
     polyA_signal    5467..5472
                     /gene="COL3A1"
     polyA_site      5489
                     /gene="COL3A1"
BASE COUNT     1336 a   1317 c   1549 g   1287 t
ORIGIN      
        1 ggctgagttt tatgacgggc ccggtgctga agggcaggga acaacttgat ggtgctactt
       61 tgaactgctt ttcttttctc ctttttgcac aaagagtctc atgtctgata tttagacatg
      121 atgagctttg tgcaaaaggg gagctggcta cttctcgctc tgcttcatcc cactattatt
      181 ttggcacaac aggaagctgt tgaaggagga tgttcccatc ttggtcagtc ctatgcggat
      241 agagatgtct ggaagccaga accatgccaa atatgtgtct gtgactcagg atccgttctc
      301 tgcgatgaca taatatgtga cgatcaagaa ttagactgcc ccaacccaga aattccattt
      361 ggagaatgtt gtgcagtttg cccacagcct ccaactgctc ctactcgccc tcctaatggt
      421 caaggacctc aaggccccaa gggagatcca ggccctcctg gtattcctgg gagaaatggt
      481 gaccctggta ttccaggaca accagggtcc cctggttctc ctggcccccc tggaatctgt
      541 gaatcatgcc ctactggtcc tcagaactat tctccccagt atgattcata tgatgtcaag
      601 tctggagtag cagtaggagg actcgcaggc tatcctggac cagctggccc cccaggccct
      661 cccggtcccc ctggtacatc tggtcatcct ggttcccctg gatctccagg ataccaagga
      721 ccccctggtg aacctgggca agctggtcct tcaggccctc caggacctcc tggtgctata
      781 ggtccatctg gtcctgctgg aaaagatgga gaatcaggta gacccggacg acctggagag
      841 cgaggattgc ctggacctcc aggtatcaaa ggtccagctg ggatacctgg attccctggt
      901 atgaaaggac acagaggctt cgatggacga aatggagaaa agggtgaaac aggtgctcct
      961 ggattaaagg gtgaaaatgg tcttccaggc gaaaatggag ctcctggacc catgggtcca
     1021 agaggggctc ctggtgagcg aggacggcca ggacttcctg gggctgcagg tgctcggggt
     1081 aatgacggtg ctcgaggcag tgatggtcaa ccaggccctc ctggtcctcc tggaactgcc
     1141 ggattccctg gatcccctgg tgctaagggt gaagttggac ctgcagggtc tcctggttca
     1201 aatggtgccc ctggacaaag aggagaacct ggacctcagg gacacgctgg tgctcaaggt
     1261 cctcctggcc ctcctgggat taatggtagt cctggtggta aaggcgaaat gggtcccgct
     1321 ggcattcctg gagctcctgg actgatggga gcccggggtc ctccaggacc agccggtgct
     1381 aatggtgctc ctggactgcg aggtggtgca ggtgagcctg gtaagaatgg tgccaaagga
     1441 gagcccggac cacgtggtga acgcggtgag gctggtattc caggtgttcc aggagctaaa
     1501 ggcgaagatg gcaaggatgg atcacctgga gaacctggtg caaatgggct tccaggagct
     1561 gcaggagaaa ggggtgcccc tgggttccga ggacctgctg gaccaaatgg catcccagga
     1621 gaaaagggtc ctgctggaga gcgtggtgct ccaggccctg cagggcccag aggagctgct
     1681 ggagaacctg gcagagatgg cgtccctgga ggtccaggaa tgaggggcat gcccggaagt
     1741 ccaggaggac caggaagtga tgggaaacca gggcctcccg gaagtcaagg agaaagtggt
     1801 cgaccaggtc ctcctgggcc atctggtccc cgaggtcagc ctggtgtcat gggcttcccc
     1861 ggtcctaaag gaaatgatgg tgctcctggt aagaatggag aacgaggtgg ccctggagga
     1921 cctggccctc agggtcctcc tggaaagaat ggtgaaactg gacctcaagg acccccaggg
     1981 cctactgggc ctggtggtga caaaggagac acaggacccc ctggtccaca aggattacaa
     2041 ggcttgcctg gtacaggtgg tcctccagga gaaaatggaa aacctgggga accaggtcca
     2101 aagggtgatg ccggtgcacc tggagctcca ggaggcaagg gtgatgctgg tgcccctggt
     2161 gaacgtggac ctcctggatt ggcaggggcc ccaggactta gaggtggagc tggtccccct
     2221 ggtcccgaag gaggaaaggg tgctgctggt cctcctgggc cacctggtgc tgctggtact
     2281 cctggtctgc aaggaatgcc tggagaaaga ggaggtcttg gaagtcctgg tccaaagggt
     2341 gacaagggtg aaccaggcgg cccaggtgct gatggtgtcc cagggaaaga tggcccaagg
     2401 ggtcctactg gtcctattgg tcctcctggc ccagctggcc agcctggaga taagggtgaa
     2461 ggtggtgccc ccggacttcc aggtatagct ggacctcgtg gtagccctgg tgagagaggt
     2521 gaaactggcc ctccaggacc tgctggtttc cctggtgctc ctggacagaa tggtgaacct
     2581 ggtggtaaag gagaaagagg ggctccgggt gagaaaggtg aaggaggccc tcctggagtt
     2641 gcaggacccc ctggaggttc tggacctgct ggtcctcctg gtccccaagg tgtcaaaggt
     2701 gaacgtggca gtcctggtgg acctggtgct gctggcttcc ctggtgctcg tggtcttcct
     2761 ggtcctcctg gtagtaatgg taacccagga cccccaggtc ccagcggttc tccaggcaag
     2821 gatgggcccc caggtcctgc gggtaacact ggtgctcctg gcagccctgg agtgtctgga
     2881 ccaaaaggtg atgctggcca accaggagag aagggatcgc ctggtgccca gggcccacca
     2941 ggagctccag gcccacttgg gattgctggg atcactggag cacggggtct tgcaggacca
     3001 ccaggcatgc caggtcctag gggaagccct ggccctcagg gtgtcaaggg tgaaagtggg
     3061 aaaccaggag ctaacggtct cagtggagaa cgtggtcccc ctggacccca gggtcttcct
     3121 ggtctggctg gtacagctgg tgaacctgga agagatggaa accctggatc agatggtctt
     3181 ccaggccgag atggatctcc tggtggcaag ggtgatcgtg gtgaaaatgg ctctcctggt
     3241 gcccctggcg ctcctggtca tccaggccca cctggtcctg tcggtccagc tggaaagagt
     3301 ggtgacagag gagaaagtgg ccctgctggc cctgctggtg ctcccggtcc tgctggttcc
     3361 cgaggtgctc ctggtcctca aggcccacgt ggtgacaaag gtgaaacagg tgaacgtgga
     3421 gctgctggca tcaaaggaca tcgaggattc cctggtaatc caggtgcccc aggttctcca
     3481 ggccctgctg gtcagcaggg tgcaatcggc agtccaggac ctgcaggccc cagaggacct
     3541 gttggaccca gtggacctcc tggcaaagat ggaaccagtg gacatccagg tcccattgga
     3601 ccaccagggc ctcgaggtaa cagaggtgaa agaggatctg agggctcccc aggccaccca
     3661 gggcaaccag gccctcctgg acctcctggt gcccctggtc cttgctgtgg tggtgttgga
     3721 gccgctgcca ttgctgggat tggaggtgaa aaagctggcg gttttgcccc gtattatgga
     3781 gatgaaccaa tggatttcaa aatcaacacc gatgagatta tgacttcact caagtctgtt
     3841 aatggacaaa tagaaagcct cattagtcct gatggttctc gtaaaaaccc cgctagaaac
     3901 tgcagagacc tgaaattctg ccatcctgaa ctcaagagtg gagaatactg ggttgaccct
     3961 aaccaaggat gcaaattgga tgctatcaag gtattctgta atatggaaac tggggaaaca
     4021 tgcataagtg ccaatccttt gaatgttcca cggaaacact ggtggacaga ttctagtgct
     4081 gagaagaaac acgtttggtt tggagagtcc atggatggtg gttttcagtt tagctacggc
     4141 aatcctgaac ttcctgaaga tgtccttgat gtgcagctgg cattccttcg acttctctcc
     4201 agccgagctt cccagaacat cacatatcac tgcaaaaata gcattgcata catggatcag
     4261 gccagtggaa atgtaaagaa ggccctgaag ctgatggggt caaatgaagg tgaattcaag
     4321 gctgaaggaa atagcaaatt cacctacaca gttctggagg atggttgcac gaaacacact
     4381 ggggaatgga gcaaaacagt ctttgaatat cgaacacgca aggctgtgag actacctatt
     4441 gtagatattg caccctatga cattggtggt cctgatcaag aatttggtgt ggacgttggc
     4501 cctgtttgct ttttataaac caaactctat ctgaaatccc aacaaaaaaa atttaactcc
     4561 atatgtgttc ctcttgttct aatcttgtca accagtgcaa gtgaccgaca aaattccagt
     4621 tatttatttc caaaatgttt ggaaacagta taatttgaca aagaaaaatg atacttctct
     4681 ttttttgctg ttccaccaaa tacaattcaa atgctttttg ttttattttt ttaccaattc
     4741 caatttcaaa atgtctcaat ggtgctataa taaataaact tcaacactct ttatgataac
     4801 aacactgtgt tatattcttt gaatcctagc ccatctgcag agcaatgact gtgctcacca
     4861 gtaaaagata acctttcttt ctgaaatagt caaatacgaa attagaaaag ccctccctat
     4921 tttaactacc tcaactggtc agaaacacag attgtattct atgagtccca gaagatgaaa
     4981 aaaattttat acgttgataa aacttataaa tttcattgat taatctcctg gaagattggt
     5041 ttaaaaagaa aagtgtaatg caagaattta aagaaatatt tttaaagcca caattatttt
     5101 aatattggat atcaactgct tgtaaaggtg ctcctctttt ttcttgtcat tgctggtcaa
     5161 gattactaat atttgggaag gctttaaaga cgcatgttat ggtgctaatg tactttcact
     5221 tttaaactct agatcagaat tgttgacttg cattcagaac ataaatgcac aaaatctgta
     5281 catgtctccc atcagaaaga ttcattggca tgccacaggg attctcctcc ttcatcctgt
     5341 aaaggtcaac aataaaaacc aaattatggg gctgcttttg tcacactagc atagagaatg
     5401 tgttgaaatt taactttgta agcttgtatg tggttgttga tctttttttt ccttacagac
     5461 acccataata aaatatcata ttaaaattc
//



Revised: July 5, 2002.
 
 


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1: NM_001733. Homo sapiens comp...[gi:4502492] Links  


LOCUS       C1R                     2386 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens complement component 1, r subcomponent (C1R), mRNA.
ACCESSION   NM_001733
VERSION     NM_001733.1  GI:4502492
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2386)
  AUTHORS   Leytus SP, Kurachi K, Sakariassen KS and Davie EW.
  TITLE     Nucleotide sequence of the cDNA coding for human complement C1r
  JOURNAL   Biochemistry 25 (17), 4855-4863 (1986)
  MEDLINE   87026566
   PUBMED   3021205
REFERENCE   2  (bases 1 to 2386)
  AUTHORS   Journet,A. and Tosi,M.
  TITLE     Cloning and sequencing of full-length cDNA encoding the precursor
            of human complement component C1r
  JOURNAL   Biochem. J. 240 (3), 783-787 (1986)
  MEDLINE   87156625
   PUBMED   3030286
REFERENCE   3  (bases 1 to 2386)
  AUTHORS   Nguyen VC, Tosi M, Gross MS, Cohen-Haguenauer O, Jegou-Foubert C,
            de Tand MF, Meo T and Frezal J.
  TITLE     Assignment of the complement serine protease genes C1r and C1s to
            chromosome 12 region 12p13
  JOURNAL   Hum. Genet. 78 (4), 363-368 (1988)
  MEDLINE   88197151
   PUBMED   2834284
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from X04701.1.
FEATURES             Location/Qualifiers
     source          1..2386
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13"
     gene            1..2386
                     /gene="C1R"
                     /db_xref="LocusID:715"
                     /db_xref="MIM:216950"
     CDS             52..2169
                     /gene="C1R"
                     /EC_number="3.4.21.41"
                     /codon_start=1
                     /product="complement component 1, r subcomponent"
                     /protein_id="NP_001724.1"
                     /db_xref="GI:4502493"
                     /db_xref="LocusID:715"
                     /db_xref="MIM:216950"
                     /translation="MWLLYLLVPALFCRAGGSIPIPQKLFGEVTSPLFPKPYPNNFET
                     TTVITVPTGYRVKLVFQQFDLEPSEGCFYDYVKISADKKSLGRFCGQLGSPLGNPPGK
                     KEFMSQGNKMLLTFHTDFSNEENGTIMFYKGFLAYYQAVDLDECASRSKLGEEDPQPQ
                     CQHLCHNYVGGYFCSCRPGYELQEDRHSCQAECSSELYTEASGYISSLEYPRSYPPDL
                     RCNYSIRVERGLTLHLKFLEPFDIDDHQQVHCPYDQLQIYANGKNIGEFCGKQRPPDL
                     DTSSNAVDLLFFTDESGDSRGWKLRYTTEIIKCPQPKTLDEFTIIQNLQPQYQFRDYF
                     IATCKQGYQLIEGNQVLHSFTAVCQDDGTWHRAMPRCKIKDCGQPRNLPNGDFRYTTT
                     MGVNTYKARIQYYCHEPYYKMQTRAGSRESEQGVYTCTAQGIWKNEQKGEKIPRCLPV
                     CGKPVNPVEQRQRIIGGQKAKMGNFPWQVFTNIHGRGGGALLGDRWILTAAHTLYPKE
                     HEAQSNASLDVFLGHTNVEELMKLGNHPIRRVSVHPDYRQDESYNFEGDIALLELENS
                     VTLGPNLLPICLPDNDTFYDLGLMGYVSGFGVMEEKIAHDLRFVRLPVANPQACENWL
                     RGKNRMDVFSQNMFCAGHPSLKQDACQGDSGGVFAVRDPNTDRWVATGIVSWGIGCSR
                     GYGFYTKVLNYVDWIKKEMEEED"
     sig_peptide     52..102
                     /gene="C1R"
     mat_peptide     103..2166
                     /gene="C1R"
                     /product="complement component 1, r subcomponent"
     misc_feature    130..474
                     /gene="C1R"
                     /note="CUB; Region: Domain first found in C1r, C1s, uEGF,
                     and bone morphogenetic protein."
                     /db_xref="CDD:CUB"
     misc_feature    160..465
                     /gene="C1R"
                     /note="CUB; Region: CUB domain"
                     /db_xref="CDD:pfam00431"
     misc_feature    475..594
                     /gene="C1R"
                     /note="EGF_CA; Region: Calcium-binding EGF-like domain"
                     /db_xref="CDD:EGF_CA"
     misc_feature    517..621
                     /gene="C1R"
                     /note="EGF; Region: Epidermal growth factor-like domain"
                     /db_xref="CDD:EGF"
     misc_feature    628..966
                     /gene="C1R"
                     /note="CUB; Region: Domain first found in C1r, C1s, uEGF,
                     and bone morphogenetic protein."
                     /db_xref="CDD:CUB"
     misc_feature    628..957
                     /gene="C1R"
                     /note="CUB; Region: CUB domain"
                     /db_xref="CDD:pfam00431"
     misc_feature    1438..2142
                     /gene="C1R"
                     /note="Tryp_SPc; Region: Trypsin-like serine protease"
                     /db_xref="CDD:Tryp_SPc"
     misc_feature    1441..2142
                     /gene="C1R"
                     /note="trypsin; Region: Trypsin"
                     /db_xref="CDD:pfam00089"
     misc_feature    424..426
                     /gene="C1R"
                     /note="N-linked glycosylation site"
     variation       complement(506)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3813730"
     variation       506
                     /gene="C1R"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1801046"
     misc_feature    550..552
                     /gene="C1R"
                     /note="N-linked glycosylation site"
     variation       601
                     /gene="C1R"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1126605"
     variation       601
                     /gene="C1R"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3181733"
     misc_feature    1440..1441
                     /gene="C1R"
                     /note="zymogen cleavage site"
     misc_feature    1591..1593
                     /gene="C1R"
                     /note="N-linked glycosylation site"
     misc_feature    1792..1794
                     /gene="C1R"
                     /note="N-linked glycosylation site"
     misc_feature    2264..2269
                     /gene="C1R"
                     /note="polyadenylation signal"
     polyA_site      2282
                     /gene="C1R"
                     /note="polyadenylation site"
BASE COUNT      587 a    661 c    648 g    490 t
ORIGIN      
        1 tgcacgaaga cgctgtcggg agagcccagg attcaacacg ggccttgaga aatgtggctc
       61 ttgtacctcc tggtgccggc cctgttctgc agggcaggag gctccattcc catccctcag
      121 aagttatttg gggaggtgac ttcccctctg ttccccaagc cttaccccaa caactttgaa
      181 acaaccactg tgatcacagt ccccacggga tacagggtga agctcgtctt ccagcagttt
      241 gacctggagc cttctgaagg ctgcttctat gattatgtca agatctctgc tgataagaaa
      301 agcctgggga ggttctgtgg gcaactgggt tctccactgg gcaacccccc gggaaagaag
      361 gaatttatgt cccaagggaa caagatgctg ctgaccttcc acacagactt ctccaacgag
      421 gagaatggga ccatcatgtt ctacaagggc ttcctggcct actaccaagc tgtggacctt
      481 gatgaatgtg cttcccggag caaattaggg gaggaggatc cccagcccca gtgccagcac
      541 ctgtgtcaca actacgttgg aggctacttc tgttcctgcc gtccaggcta tgagcttcag
      601 gaagacaggc attcctgcca ggctgagtgc agcagcgagc tgtacacgga ggcatcaggc
      661 tacatctcca gcctggagta ccctcggtcc tacccccctg acctgcgctg caactacagc
      721 atccgggtgg agcggggcct caccctgcac ctcaagttcc tggagccttt tgatattgat
      781 gaccaccagc aagtacactg cccctatgac cagctacaga tctatgccaa cgggaagaac
      841 attggcgagt tctgtgggaa gcaaaggccc cccgacctcg acaccagcag caatgctgtg
      901 gatctgctgt tcttcacaga tgagtcgggg gacagccggg gctggaagct gcgctacacc
      961 accgagatca tcaagtgccc ccagcccaag accctagacg agttcaccat catccagaac
     1021 ctgcagcctc agtaccagtt ccgtgactac ttcattgcta cctgcaagca aggctaccag
     1081 ctcatagagg ggaaccaggt gctgcattcc ttcacagctg tctgccagga tgatggcacg
     1141 tggcatcgtg ccatgcccag atgcaagatc aaggactgtg ggcagccccg aaacctgcct
     1201 aatggtgact tccgttacac caccacaatg ggagtgaaca cctacaaggc ccgtatccag
     1261 tactactgcc atgagccata ttacaagatg cagaccagag ctggcagcag ggagtctgag
     1321 caaggggtgt acacctgcac agcacagggc atttggaaga atgaacagaa gggagagaag
     1381 attcctcggt gcttgccagt gtgtgggaag cccgtgaacc ccgtggaaca gaggcagcgc
     1441 atcatcggag ggcaaaaagc caagatgggc aacttcccct ggcaggtgtt caccaacatc
     1501 cacgggcgcg ggggcggggc cctgctgggc gaccgctgga tcctcacagc tgcccacacc
     1561 ctgtatccca aggaacacga agcgcaaagc aacgcctctt tggatgtgtt cctgggccac
     1621 acaaatgtgg aagagctcat gaagctagga aatcacccca tccgcagggt cagcgtccac
     1681 ccggactacc gtcaggatga gtcctacaat tttgaggggg acatcgccct gctggagctg
     1741 gaaaatagtg tcaccctggg tcccaacctc ctccccatct gcctccctga caacgatacc
     1801 ttctacgacc tgggcttgat gggctatgtc agtggcttcg gggtcatgga ggagaagatt
     1861 gctcatgacc tcaggtttgt ccgtctgccc gtagctaatc cacaggcctg tgagaactgg
     1921 ctccggggaa agaataggat ggatgtgttc tctcaaaaca tgttctgtgc tggacaccca
     1981 tctctaaagc aggacgcctg ccagggggat agtgggggcg tttttgcagt aagggacccg
     2041 aacactgatc gctgggtggc cacgggcatc gtgtcctggg gcatcgggtg cagcaggggc
     2101 tatggcttct acaccaaagt gctcaactac gtggactgga tcaagaaaga gatggaggag
     2161 gaggactgag cccagaattc actaggttcg aatccagaga gcagtgtgga aaaaaaaaaa
     2221 caaaaaacaa ctgaccagtt gttgataacc actaagagtc tctattaaaa ttactgatgc
     2281 agaaagaccg tgtgtgaaat tctctttcct gtagtcccat tgatgtactt tacctgaaac
     2341 aaccaaaggg cccctttctt tcttctgagg attgcagagg atatag
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

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&&&&&&&


    
 
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   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene  for        
 
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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_015904. Homo sapiens tran...[gi:15451891] Links  


LOCUS       IF2                     4170 bp    mRNA    linear   PRI 06-SEP-2001
DEFINITION  Homo sapiens translation initiation factor IF2 (IF2), mRNA.
ACCESSION   NM_015904
VERSION     NM_015904.2  GI:15451891
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4170)
  AUTHORS   Lee,J.H., Choi,S.K., Roll-Mecak,A., Burley,S.K. and Dever,T.E.
  TITLE     Universal conservation in translation initiation revealed by human
            and archaeal homologs of bacterial translation initiation factor
            IF2
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 96 (8), 4342-4347 (1999)
  MEDLINE   99218282
   PUBMED   10200264
REFERENCE   2  (bases 1 to 4170)
  AUTHORS   Wilson,S.A., Sieiro-Vazquez,C., Edwards,N.J., Iourin,O.,
            Byles,E.D., Kotsopoulou,E., Adamson,C.S., Kingsman,S.M.,
            Kingsman,A.J. and Martin-Rendon,E.
  TITLE     Cloning and characterization of hIF2, a human homologue of
            bacterial translation initiation factor 2, and its interaction with
            HIV-1 matrix
  JOURNAL   Biochem. J. 342 (Pt 1), 97-103 (1999)
  MEDLINE   99362399
   PUBMED   10432305
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF078035.1 and AJ006776.1.
            On Sep 6, 2001 this sequence version replaced gi:7706231.
            Summary: This gene encodes a protein that functions as a
            translation initiation factor and is universally conserved. It
            encodes one of the two proteins identified as translation
            initiation factors, the other factor being a complex composed of
            three subunits. These translation factors act independently of each
            other, however, their function is the same: to position the
            initiator methionine tRNA on the start codon of the mRNA in
            association with the 40S ribosomal subunit and GTP so that
            translation initiates accurately.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4170
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.1-q11.1"
     gene            1..4170
                     /gene="IF2"
                     /note="KIAA0741; DKFZp434I036; FLJ10524"
                     /db_xref="LocusID:9669"
                     /db_xref="MIM:606086"
     CDS             142..3804
                     /gene="IF2"
                     /codon_start=1
                     /product="translation initiation factor IF2"
                     /protein_id="NP_056988.2"
                     /db_xref="GI:15451892"
                     /db_xref="LocusID:9669"
                     /db_xref="MIM:606086"
                     /translation="MGKKQKNKSEDSTKDDIDLDALAAEIEGAGAAKEQEPQKSKGKK
                     KKEKKKQDFDEDDILKELEELSLEAQGIKADRETVAVKPTENNEEEFTSKDKKKKGQK
                     GKKQSFDDNDSEELEDKDSKSKKTAKPKVEMYSGSDDDDDFNKLPKKAKGKAQKSNKK
                     WDGSEEDEDNSKKIKERSRINSSGESGDESDEFLQSRKGQKKNQKNKPGPNIESGNED
                     DDASFKIKTVAQKKAEKKERERKKRDEEKAKLRKLKEKEELETGKKDQSKQKESQRKF
                     EEETVKSKVTVDTGVIPASEEKAETPTAAEDDNEGDKKKKDKKKKKGEKEEKEKEKKK
                     GPSKATVKAMQEALAKLKEEEERQKREEEERIKRLEELEAKRKEEERLEQEKRERKKQ
                     KEKERKERLKKEGKLLTKSQREARARAEATLKLLQAQGVEVPSKDSLPKKRPIYEDKK
                     RKKIPQQLESKEVSESMELCAAVEVMEQGVPEKEETPPPVEPEEEEDTEDAGLDDWEA
                     MASDEETEKVEGNTVHIEVKENPEEEEEEEEEEEEDEESEEEEEEEGESEGSEGDEED
                     EKVSDEKDSGKTLDKKPSKEMSSDSEYDSDDDRTKEERAYDKAKRRIEKRRLEHSKNV
                     NTEKLRAPIICVLGHVDTGKTKILDKLRHTHVQDGEAGGITQQIWATNVPLEAINEQT
                     KMIKNFDRENVRIPGMLIIDTPGHESFSNLRNRGSSLCDIAILVVDIMHGLEPQTIES
                     INLLKSKKCPFIVALNKIDRLYDWKKSPDSDVAATLKKQKKNTKDEFEERAKAIIVEF
                     AQQGLNAALFYENKDPRTFVSLVPTSAHTGDGMGSLIYLLVELTQTMLSKRLAHCEEL
                     RAQVMEVKALPGMGTTIDVILINGRLKEGDTIIVPGVEGPIVTQIRGLLLPPPMKELR
                     VKNQYEKHKEVEAAQGVKILGKDLEKTLAGLPLLVAYKEDEIPVLKDELIHELKQTLN
                     AIKLEEKGVYVQASTLGSLEALLEFLKTSEVPYAGINIGPVHKKDVMKASVMLEHDPQ
                     YAVILAFDVRIERDAQEMADSLGVRIFSAEIIYHLFDAFTKYRQDYKKQKQEEFKHIA
                     VFPCKIKILPQYIFNSRDPIVMGVTVEAGQVKQGTPMCVPSKNFVDIGIVTSIEINHK
                     QVDVAKKGQEVCVKIEPIPGESPKMFGRHFEATDILVSKISRQSIDALKDWFRDEMQK
                     SDWQLIVELKKVFEII"
     misc_feature    256..291
                     /gene="IF2"
                     /note="Region: poly-lysine"
     misc_feature    421..438
                     /gene="IF2"
                     /note="Region: poly-lysine"
     misc_feature    553..567
                     /gene="IF2"
                     /note="Region: poly-aspartic acid"
     misc_feature    1078..1107
                     /gene="IF2"
                     /note="Region: poly-lysine"
     misc_feature    1198..1209
                     /gene="IF2"
                     /note="Region: poly-glutamic acid"
     misc_feature    1222..1233
                     /gene="IF2"
                     /note="Region: poly-glutamic acid"
     misc_feature    1612..1629
                     /gene="IF2"
                     /note="Region: poly-glutamic acid"
     misc_feature    1726..1842
                     /gene="IF2"
                     /note="Region: acidic region"
     misc_feature    2029..3027
                     /gene="IF2"
                     /note="GTP_EFTU; Region: Elongation factor Tu family"
                     /db_xref="CDD:pfam00009"
     misc_feature    3256..3627
                     /gene="IF2"
                     /note="Region: Initiation factor 2"
                     /db_xref="CDD:pfam02131"
     variation       1150
                     /gene="IF2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:10642"
     variation       complement(1219)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3205296"
     variation       complement(1491)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3205291"
     variation       complement(2914)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3205290"
     variation       complement(3102)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3197957"
     variation       4011
                     /gene="IF2"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:14534"
     polyA_signal    4139..4144
                     /gene="IF2"
     polyA_site      4169
                     /gene="IF2"
BASE COUNT     1600 a    642 c   1031 g    897 t
ORIGIN      
        1 cgcgggtctg tggagagccg ggtgcgagcg gcggcagcac gaggggaaaa gagctgagcg
       61 gagaccaaag tcagccggga gacagtgggt ctgtgagaga ccgaatagag gggctggggc
      121 cacgagcgcc attgacaagc aatggggaag aaacagaaaa acaagagcga agacagcacc
      181 aaggatgaca ttgatcttga tgccttggct gcagaaatag aaggagctgg tgctgccaaa
      241 gaacaggagc ctcaaaagtc aaaagggaaa aagaaaaaag agaaaaaaaa gcaggacttt
      301 gatgaagatg atatcctgaa agaactggaa gaattgtctt tggaagctca aggcatcaaa
      361 gctgacagag aaactgttgc agtgaagcca acagaaaaca atgaagagga attcacctca
      421 aaagataaaa aaaagaaagg acagaagggc aaaaaacaga gttttgatga taatgatagc
      481 gaagaattgg aagataaaga ttcaaaatca aaaaagactg caaaaccgaa agtggaaatg
      541 tactctggga gtgatgatga tgatgatttt aacaaacttc ctaaaaaagc taaagggaaa
      601 gctcaaaaat caaataagaa gtgggatggg tcagaggagg atgaggataa cagtaaaaaa
      661 attaaagagc gttcaagaat aaattcttct ggtgaaagtg gtgatgaatc agatgaattt
      721 ttgcaatcta gaaaaggaca gaaaaaaaat cagaaaaaca agccaggtcc taacatagaa
      781 agtgggaatg aagatgatga cgcctccttc aaaattaaga cagtggccca aaagaaggca
      841 gaaaagaagg agcgcgagag aaaaaagcga gatgaagaaa aagcgaaact gcggaagctg
      901 aaagaaaaag aagagttaga aacaggtaaa aaggatcaga gtaaacaaaa ggaatctcaa
      961 aggaaatttg aagaagaaac tgtaaaatcc aaagtgactg ttgatactgg agtaattcct
     1021 gcctctgaag agaaagcaga gactcccaca gctgcagaag atgacaatga aggagacaaa
     1081 aagaagaaag ataagaagaa aaagaaagga gaaaaggaag aaaaagagaa agagaagaaa
     1141 aaaggaccta gcaaagccac tgttaaagct atgcaagaag ctctggctaa gcttaaagag
     1201 gaagaagaaa gacagaagag agaagaggaa gaacgtataa aacggcttga agaattagaa
     1261 gccaagcgta aagaagagga acgattggaa caagaaaaaa gagaaaggaa aaagcaaaaa
     1321 gaaaaagaaa gaaaagaacg cttgaaaaaa gaagggaaac ttttaactaa atcccagaga
     1381 gaagccagag ccagagccga agctactctt aaactgctac aagctcaggg tgttgaagtg
     1441 ccatcaaaag actctttgcc aaagaagagg ccaatttatg aagataaaaa gaggaaaaaa
     1501 ataccacagc agctagaaag taaagaagtg tctgaatcaa tggaattatg tgctgctgta
     1561 gaagttatgg aacaaggagt accagaaaag gaagagacac cacctcctgt tgaaccagaa
     1621 gaagaagaag atactgagga tgctggattg gatgattggg aagctatggc cagtgatgag
     1681 gagacagaaa aagtagaagg aaacacagtt catatagaag taaaagaaaa ccctgaagag
     1741 gaggaggagg aggaagaaga ggaagaagaa gatgaagaaa gtgaagaaga ggaggaagag
     1801 gagggagaaa gtgaaggcag tgaaggtgat gaggaagatg aaaaggtgtc agatgagaag
     1861 gattcaggga agacattaga taaaaagcca agtaaagaaa tgagctcaga ttctgaatat
     1921 gactctgatg atgatcggac taaagaagaa agggcttatg acaaagcaaa acggaggatt
     1981 gagaaacggc gacttgaaca tagtaaaaat gtaaacaccg aaaagctaag agcccctatt
     2041 atctgcgtac ttgggcatgt ggacacaggg aagacaaaaa ttctagataa gctccgtcac
     2101 acacatgtac aagacggtga agcaggtggt atcacacaac aaatttgggc caccaatgtt
     2161 cctcttgaag ctattaatga acagactaag atgattaaaa attttgatag agagaatgta
     2221 cggattccag gaatgctaat tattgatact cctgggcatg aatctttcag taatctgaga
     2281 aatagaggaa gctctctttg tgacattgcc attttagttg ttgatattat gcatggtttg
     2341 gagccccaga caattgagtc tatcaacctt ctcaaatcta aaaaatgtcc cttcattgtt
     2401 gcactcaata agattgatag gttatatgat tggaaaaaga gtcctgactc tgatgtggct
     2461 gctactttaa agaagcagaa aaagaataca aaagatgaat ttgaggagcg agcaaaggct
     2521 attattgtag aatttgcaca gcagggtttg aatgctgctt tgttttatga gaataaagat
     2581 ccccgcactt ttgtgtcttt ggtacctacc tctgcacata ctggtgatgg catgggaagt
     2641 ctgatctacc ttcttgtaga gttaactcag accatgttga gcaagagact tgcacactgt
     2701 gaagagctga gagcacaggt gatggaggtt aaagctctcc cggggatggg caccactata
     2761 gatgtcattt tgatcaatgg gcgtttgaag gaaggagata caatcattgt tcctggagta
     2821 gaagggccca ttgtaactca gattcgaggc ctcctgttac ctcctcctat gaaggaatta
     2881 cgagtgaaga accagtatga aaagcataaa gaagtagaag cagctcaggg ggtaaagatt
     2941 cttggaaaag acctggagaa aacattggct ggtttacccc tccttgtggc ttataaagaa
     3001 gatgaaatcc ctgttcttaa agatgaattg atccatgagt taaagcagac actaaatgct
     3061 atcaaattag aagaaaaagg agtctatgtc caggcatcta cactgggttc tttggaagct
     3121 ctactggaat ttctgaaaac atcagaagtg ccctatgcag gaattaacat tggcccagtg
     3181 cataaaaaag atgttatgaa ggcttcagtg atgttggaac atgaccctca gtatgcagta
     3241 attttggcct tcgatgtgag aattgaacga gatgcacaag aaatggctga tagtttagga
     3301 gttagaattt ttagtgcaga aattatttat catttatttg atgcctttac aaaatataga
     3361 caagactaca agaaacagaa acaagaagaa tttaagcaca tagcagtatt tccctgcaag
     3421 ataaaaatcc tccctcagta catttttaat tctcgagatc cgatagtgat gggggtgacg
     3481 gtggaagcag gtcaggtgaa acaggggaca cccatgtgtg tcccaagcaa aaattttgtt
     3541 gacatcggaa tagtaacaag tattgaaata aaccataaac aagtggatgt tgcaaaaaaa
     3601 ggacaagaag tttgtgtaaa aatagaacct atccctggtg agtcacccaa aatgtttgga
     3661 agacattttg aagctacaga tattcttgtt agtaagatca gccggcagtc cattgatgca
     3721 ctcaaagact ggttcagaga tgaaatgcag aagagtgact ggcagcttat tgtggagctg
     3781 aagaaagtat ttgaaatcat ctaatttttt cacatggagc aggaactgga gtaaatgcaa
     3841 tactgtgttg taatatccca acaaaaatca gacaaaaaat ggaacagacg tatttggaca
     3901 ctgatggact taagtatgga aggaagaaaa ataggtgtat aaaatgtttt ccatgagaaa
     3961 ccaagaaact tacactggtt tgacagtggt cagttacatg tccccacagt tccaatgtgc
     4021 ctgttcactc acctctccct tccccaaccc ttctctactt ggctgctgtt ttaaagtttg
     4081 cccttcccca aatttggatt tttattacag agtctaaagc tctttcgatt ttatactgat
     4141 taaatcagta ctgcagtatt tgattaacca 
//



Revised: July 5, 2002.
 
 


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1: NM_000618. Homo sapiens insu...[gi:19923111] Links  


LOCUS       IGF1                    7260 bp    mRNA    linear   PRI 04-APR-2002
DEFINITION  Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1),
            mRNA.
ACCESSION   NM_000618
VERSION     NM_000618.2  GI:19923111
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from X57025.1.
            On Apr 4, 2002 this sequence version replaced gi:11024681.
FEATURES             Location/Qualifiers
     source          1..7260
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q22-q23"
                     /tissue_type="liver"
                     /dev_stage="adult"
     gene            1..7260
                     /gene="IGF1"
                     /db_xref="LocusID:3479"
                     /db_xref="MIM:147440"
     CDS             167..628
                     /gene="IGF1"
                     /note="insulin-like growth factor 1 (somatomedia C)"
                     /codon_start=1
                     /evidence=experimental
                     /product="insulin-like growth factor 1 (somatomedin C)"
                     /protein_id="NP_000609.1"
                     /db_xref="GI:11024682"
                     /db_xref="LocusID:3479"
                     /db_xref="MIM:147440"
                     /translation="MGKISSLPTQLFKCCFCDFLKVKMHTMSSSHLFYLALCLLTFTS
                     SATAGPETLCGAELVDALQFVCGDRGFYFNKPTGYGSSSRRAPQTGIVDECCFRSCDL
                     RRLEMYCAPLKPAKSARSVRAQRHTDMPKTQKEVHLKNASRGSAGNKNYRM"
     sig_peptide     167..310
                     /gene="IGF1"
                     /evidence=experimental
     mat_peptide     311..520
                     /gene="IGF1"
                     /product="insulin-like growth factor 1 (somatomedin C)"
                     /evidence=experimental
     misc_feature    317..493
                     /gene="IGF1"
                     /note="IlGF; Region: Insulin / insulin-like growth factor
                     / relaxin family."
                     /db_xref="CDD:smart00078"
     misc_feature    317..493
                     /gene="IGF1"
                     /note="Insulin; Region: Insulin/IGF/Relaxin family"
                     /db_xref="CDD:pfam00049"
     variation       171
                     /gene="IGF1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3730195"
     variation       734
                     /gene="IGF1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:14970"
     polyA_signal    861..865
                     /gene="IGF1"
                     /note="1.1 kb mRNA"
                     /evidence=experimental
     variation       972
                     /gene="IGF1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3730200"
     variation       1235
                     /gene="IGF1"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3730203"
     variation       1398
                     /gene="IGF1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3730204"
     variation       1469
                     /gene="IGF1"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3730210"
     variation       1551
                     /gene="IGF1"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3730223"
     variation       1783
                     /gene="IGF1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3730211"
     variation       1830
                     /gene="IGF1"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3730212"
     variation       2163
                     /gene="IGF1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3730218"
     variation       2344
                     /gene="IGF1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3730201"
     variation       2350
                     /gene="IGF1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:6212"
     variation       2350
                     /gene="IGF1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3730185"
     variation       complement(2396)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:6220"
     variation       2396
                     /gene="IGF1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3730219"
     variation       2577
                     /gene="IGF1"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3730224"
     variation       2892
                     /gene="IGF1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:6216"
     variation       2892
                     /gene="IGF1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3730196"
     variation       3123
                     /gene="IGF1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:6217"
     variation       3123
                     /gene="IGF1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3730197"
     variation       3276
                     /gene="IGF1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:6218"
     variation       3276
                     /gene="IGF1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3730198"
     variation       3340
                     /gene="IGF1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:6214"
     variation       3340
                     /gene="IGF1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3730225"
     variation       3612
                     /gene="IGF1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3730226"
     variation       3748
                     /gene="IGF1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2114911"
     variation       3874
                     /gene="IGF1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3730207"
     repeat_unit     3986..4026
                     /gene="IGF1"
                     /note="CA-repeat"
                     /evidence=experimental
     variation       complement(3986..3987)
                     /allele="-"
                     /allele="GTGTGTGT"
                     /db_xref="dbSNP:3032446"
     variation       4335
                     /gene="IGF1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3209674"
     variation       4343
                     /gene="IGF1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1063599"
     variation       4352
                     /gene="IGF1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1063600"
     variation       4592
                     /gene="IGF1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3730190"
     variation       4598
                     /gene="IGF1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3730192"
     variation       5054
                     /gene="IGF1"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3730188"
     variation       5165
                     /gene="IGF1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3730205"
     variation       5181
                     /gene="IGF1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3730208"
     variation       5899
                     /gene="IGF1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:6221"
     variation       5899
                     /gene="IGF1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3730187"
     repeat_unit     5926..6215
                     /gene="IGF1"
                     /evidence=experimental
                     /rpt_family="AluI"
     variation       6014
                     /gene="IGF1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3730202"
     variation       6133
                     /gene="IGF1"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3730220"
     variation       6178
                     /gene="IGF1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3730221"
     variation       6237
                     /gene="IGF1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3730206"
     variation       6299
                     /gene="IGF1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3730191"
     variation       6307
                     /gene="IGF1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3730209"
     variation       6721
                     /gene="IGF1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:6219"
     variation       6721
                     /gene="IGF1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3730199"
     variation       6939
                     /gene="IGF1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:6215"
     variation       6939
                     /gene="IGF1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3730227"
     variation       7012
                     /gene="IGF1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:6222"
     variation       7012
                     /gene="IGF1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3730222"
     variation       7150
                     /gene="IGF1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3730189"
     polyA_signal    7205..7210
                     /gene="IGF1"
                     /note="7.6 kb mRNA"
                     /evidence=experimental
BASE COUNT     2330 a   1415 c   1240 g   2275 t
ORIGIN      
        1 tcactgtcac tgctaaattc agagcagatt agagcctgcg caatggaata aagtcctcaa
       61 aattgaaatg tgacattgct ctcaacatct cccatctctc tggatttcct tttgcttcat
      121 tattcctgct aaccaattca ttttcagact ttgtacttca gaagcaatgg gaaaaatcag
      181 cagtcttcca acccaattat ttaagtgctg cttttgtgat ttcttgaagg tgaagatgca
      241 caccatgtcc tcctcgcatc tcttctacct ggcgctgtgc ctgctcacct tcaccagctc
      301 tgccacggct ggaccggaga cgctctgcgg ggctgagctg gtggatgctc ttcagttcgt
      361 gtgtggagac aggggctttt atttcaacaa gcccacaggg tatggctcca gcagtcggag
      421 ggcgcctcag acaggcatcg tggatgagtg ctgcttccgg agctgtgatc taaggaggct
      481 ggagatgtat tgcgcacccc tcaagcctgc caagtcagct cgctctgtcc gtgcccagcg
      541 ccacaccgac atgcccaaga cccagaagga agtacatttg aagaacgcaa gtagagggag
      601 tgcaggaaac aagaactaca ggatgtagga agaccctcct gaggagtgaa gagtgacatg
      661 ccaccgcagg atcctttgct ctgcacgagt tacctgttaa actttggaac acctaccaaa
      721 aaataagttt gataacattt aaaagatggg cgtttccccc aatgaaatac acaagtaaac
      781 attccaacat tgtctttagg agtgatttgc accttgcaaa aatggtcctg gagttggtag
      841 attgctgttg atcttttatc aataatgttc tatagaaaag aaaaaaaaat atatatatat
      901 atatatctta gtccctgcct ctcaagagcc acaaatgcat gggtgttgta tagatccagt
      961 tgcactaaat tcctctctga atcttggctg ctggagccat tcattcagca accttgtcta
     1021 agtggtttat gaattgtttc cttatttgca cttctttcta cacaactcgg gctgtttgtt
     1081 ttacagtgtc tgataatctt gttagtctat acccaccacc tcccttcata acctttatat
     1141 ttgccgaatt tggcctcctc aaaagcagca gcaagtcgtc aagaagcaca ccaattctaa
     1201 cccacaagat tccatctgtg gcatttgtac caaatataag ttggatgcat tttattttag
     1261 acacaaagct ttatttttcc acatcatgct tacaaaaaag aataatgcaa atagttgcaa
     1321 ctttgaggcc aatcattttt aggcatatgt tttaaacata gaaagtttct tcaactcaaa
     1381 agagttcctt caaatgatga gttaatgtgc aacctaatta gtaactttcc tctttttatt
     1441 ttttccatat agagcactat gtaaatttag catatcaatt atacaggata tatcaaacag
     1501 tatgtaaaac tctgtttttt agtataatgg tgctattttg tagtttgtta tatgaaagag
     1561 tctggccaaa acggtaatac gtgaaagcaa aacaataggg gaagcctgga gccaaagatg
     1621 acacaagggg aagggtactg aaaacaccat ccatttggga aagaaggcaa agtcccccca
     1681 gttatgcctt ccaagaggaa cttcagacac aaaagtccac tgatgcaaat tggactggcg
     1741 agtccagaga ggaaactgtg gaatggaaaa agcagaaggc taggaatttt agcagtcctg
     1801 gtttcttttt ctcatggaag aaatgaacat ctgccagctg tgtcatggac tcaccactgt
     1861 gtgaccttgg gcaagtcact tcacctctct gtgcctcagt ttcctcatct gcaaaatggg
     1921 ggcaatatgt catctaccta cctcaaaggg gtggtataag gtttaaaaag ataaagattc
     1981 agattttttt accctgggtt gctgtaaggg tgcaacatca gggcgcttga gttgctgaga
     2041 tgcaaggaat tctataaata acccattcat agcatagcta gagattggtg aattgaatgc
     2101 tcctgacatc tcagttcttg tcagtgaagc tatccaaata actggccaac tagttgttaa
     2161 aagctaacag ctcaatctct taaaacactt ttcaaaatat gtgggaagca tttgattttc
     2221 aatttgattt tgaattctgc atttggtttt atgaatacaa agataagtga aaagagagaa
     2281 aggaaaagaa aaaggagaaa aacaaagaga tttctaccag tgaaagggga attaattact
     2341 ctttgttagc actcactgac tcttctatgc agttactaca tatctagtaa aaccttgttt
     2401 aatactataa ataatattct attcattttg aaaaacacaa tgattccttc ttttctaggc
     2461 aatataagga aagtgatcca aaatttgaaa tattaaaata atatctaata aaaagtcaca
     2521 aagttatctt ctttaacaaa ctttactctt attcttagct gtatatacat ttttttaaaa
     2581 agtttgttaa aatatgcttg actagagttt cagttgaaag gcaaaaactt ccatcacaac
     2641 aagaaatttc ccatgcctgc tcagaagggt agcccctagc tctctgtgaa tgtgttttat
     2701 ccattcaact gaaaattggt atcaagaaag tccactggtt agtgtactag tccatcatag
     2761 cctagaaaat gatccctatc tgcagatcaa gattttctca ttagaacaat gaattatcca
     2821 gcattcagat ctttctagtc accttagaac tttttggtta aaagtaccca ggcttgatta
     2881 tttcatgcaa attctatatt ttacattctt ggaaagtcta tatgaaaaac aaaaataaca
     2941 tcttcagttt ttctcccact gggtcacctc aaggatcaga ggccaggaaa aaaaaaaaag
     3001 actccctgga tctctgaata tatgcaaaaa gaaggcccca tttagtggag ccagcaatcc
     3061 tgttcagtca acaagtattt taactctcag tccaacatta tttgaattga gcacctcaag
     3121 catgcttagc aatgttctaa tcactatgga cagatgtaaa agaaactata catcattttt
     3181 gccctctgcc tgttttccag acatacaggt tctgtggaat aagatactgg actcctcttc
     3241 ccaagatggc acttcttttt atttcttgtc cccagtgtgt accttttaaa attattccct
     3301 ctcaacaaaa ctttataggc agtcttctgc agacttaaca tgttttctgt catagttaga
     3361 tgtgataatt ctaagagtgt ctatgactta tttccttcac ttaattctat ccacagtcaa
     3421 aaatccccca aggaggaaag ctgaaagatg caactgccaa tattatcttt cttaactttt
     3481 tccaacacat aatcctctcc aactggatta taaataaatt gaaaataact cattatacca
     3541 attcactatt ttatttttta atgaattaaa actagaaaac aaattgatgc aaaccctgga
     3601 agtcagttga ttactatata ctacagcaga atgactcaga tttcatagaa aggagcaacc
     3661 aaaatgtcac aaccaaaact ttacaagctt tgcttcagaa ttagattgct ttataattct
     3721 tgaatgaggc aatttcaaga tatttgtaaa agaacagtaa acattggtaa gaatgagctt
     3781 tcaactcata ggcttatttc caatttaatt gaccatactg gatacttagg tcaaatttct
     3841 gttctctctt gcccaaataa tattaaagta ttatttgaac tttttaagat gaggcagttc
     3901 ccctgaaaaa gttaatgcag ctctccatca gaatccactc ttctagggat atgaaaatct
     3961 cttaacaccc accctacata cacagacaca cacacacaca cacacacaca cacacacaca
     4021 cacacattca ccctaaggat ccaatggaat actgaaaaga aatcacttcc ttgaaaattt
     4081 tattaaaaaa caaacaaaca aacaaaaagc ctgtccaccc ttgagaatcc ttcctctcct
     4141 tggaacgtca atgtttgtgt agatgaaacc atctcatgct ctgtggctcc agggtttctg
     4201 ttactatttt atgcacttgg gagaaggctt agaataaaag atgtagcaca ttttgctttc
     4261 ccatttattg tttggccagc tatgccaatg tggtgctatt gtttctttaa gaaagtactt
     4321 gactaaaaaa aaaagaaaaa aagaaaaaaa agaaagcata gacatatttt tttaaagtat
     4381 aaaaacaaca attctataga tagatggctt aataaaatag cattaggtct atctagccac
     4441 caccaccttt caacttttta tcactcacaa gtagtgtact gttcaccaaa ttgtgaattt
     4501 gggggtgcag gggcaggagt tggaaatttt ttaaagttag aaggctccat tgttttgttg
     4561 gctctcaaac ttagcaaaat tagcaatata ttatccaatc ttctgaactt gatcaagagc
     4621 atggagaata aacgcgggaa aaaagatctt ataggcaaat agaagaattt aaaagataag
     4681 taagttcctt attgattttt gtgcactctg ctctaaaaca gatattcagc aagtggagaa
     4741 aataagaaca aagagaaaaa atacatagat ttacctgcaa aaaatagctt ctgccaaatc
     4801 ccccttgggt attctttggc atttactggt ttatagaaga cattctccct tcacccagac
     4861 atctcaaaga gcagtagctc tcatgaaaag caatcactga tctcatttgg gaaatgttgg
     4921 aaagtatttc cttatgagat gggggttatc tactgataaa gaaagaattt atgagaaatt
     4981 gttgaaagag atggctaaca atctgtgaag attttttgtt tcttggtttt gttttttttt
     5041 ttttttttac tttatacagt ctttatgaat ttcttaatgt tcaaaatgac ttggttcttt
     5101 tcttcttttt tttatatcag aatgaggaat aataagttaa acccacatag actctttaaa
     5161 actataggct agatagaaat gtatgtttga cttgttgaag ctataatcag actatttaaa
     5221 atgttttgct atttttaatc ttaaaagatt gtgctaattt attagagcag aacctgtttg
     5281 gctctcctca gaagaaagaa tctttccatt caaatcacat ggctttccac caatattttc
     5341 aaaagataaa tctgatttat gcaatggcat catttatttt aaaacagaag aattgtgaaa
     5401 gtttatgccc ctcccttgca aagaccataa agtccagatc tggtaggggg gcaacaacaa
     5461 aaggaaaatg ttgttgattc ttggttttgg attttgtttt gttttcaatg ctagtgttta
     5521 atcctgtagt acatatttgc ttattgctat tttaatattt tataagacct tcctgttagg
     5581 tattagaaag tgatacatag atatcttttt tgtgtaattt ctatttaaaa aagagagaag
     5641 actgtcagaa gctttaagtg catatggtac aggataaaga tatcaattta aataaccaat
     5701 tcctatctgg aacaatgctt ttgtttttta aagaaacctc tcacagataa gacagaggcc
     5761 caggggattt ttgaagctgt ctttattctg cccccatccc aacccagccc ttattatttt
     5821 agtatctgcc tcagaatttt atagagggct gaccaagctg aaactctaga attaaaggaa
     5881 cctcactgaa aacatatatt tcacgtgttc cctctctttt ttttcctttt tgtgagatgg
     5941 ggtctcgcac tgtcccccag gctggagtgc agtggcatga tctcggctca ctgcaacctc
     6001 cacctcctgg gtttaagcga ttctcctgcc tcagcctcct gagtagctgg gattacaggc
     6061 acccaccact atgcccggct aattttttgg atttttaata gagacggggt tttaccatgt
     6121 tggccaggtt ggactcaaac tcctgacctt gtgatttgcc cgcctcagcc tcccaaattg
     6181 ctgggattac aggcatgagc caccacaccc tgcccatgtg ttccctctta atgtatgatt
     6241 acatggatct taaacatgat ccttctctcc tcattcttca actatctttg atggggtctt
     6301 tcaaggggaa aaaaatccaa gcttttttaa agtaaaaaaa aaaaaagaga ggacacaaaa
     6361 ccaaatgtta ctgctcaact gaaatatgag ttaagatgga gacagagttt ctcctaataa
     6421 ccggagctga attacctttc actttcaaaa acatgacctt ccacaatcct tagaatctgc
     6481 ctttttttat attactgagg cctaaaagta aacattactc attttatttt gcccaaaatg
     6541 cactgatgta aagtaggaaa aataaaaaca gagctctaaa atccctttca agccacccat
     6601 tgaccccact caccaactca tagcaaagtc acttctgtta atcccttaat ctgattttgt
     6661 ttggatattt atcttgtacc cgctgctaaa cacactgcag gagggactct gaaacctcaa
     6721 gctgtctact tacatctttt atctgtgtct gtgtatcatg aaaatgtcta ttcaaaatat
     6781 caaaaccttt caaatatcac gcagcttata ttcagtttac ataaaggccc caaataccat
     6841 gtcagatctt tttggtaaaa gagttaatga actatgagaa ttgggattac atcatgtatt
     6901 ttgcctcatg tatttttatc acacttatag gccaagtgtg ataaataaac ttacagacac
     6961 tgaattaatt tcccctgcta ctttgaaacc agaaaataat gactggccat tcgttacatc
     7021 tgtcttagtt gaaaagcata ttttttatta aattaattct gattgtattt gaaattatta
     7081 ttcaattcac ttatggcaga ggaatatcaa tcctaatgac ttctaaaaat gtaactaatt
     7141 gaatcattat cttacattta ctgtttaata agcatatttt gaaaatgtat ggctagagtg
     7201 tcataataaa atggtatatc tttctttagt aattacaaaa aaaaaaaaaa aaaaaaaaaa
//



Revised: July 5, 2002.
 
 


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1: NM_022361. Homo sapiens pope...[gi:21359946] Links  


LOCUS       POP3                    1369 bp    mRNA    linear   PRI 12-AUG-2002
DEFINITION  Homo sapiens popeye protein 3 (POP3), mRNA.
ACCESSION   NM_022361
VERSION     NM_022361.2  GI:21359946
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1369)
  AUTHORS   Andree,B., Hillemann,T., Kessler-Icekson,G., Schmitt-John,T.,
            Jockusch,H., Arnold,H.H. and Brand,T.
  TITLE     Isolation and characterization of the novel popeye gene family
            expressed in skeletal muscle and heart
  JOURNAL   Dev. Biol. 223 (2), 371-382 (2000)
  MEDLINE   20341060
   PUBMED   10882522
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC022323.1.
            On Jun 9, 2002 this sequence version replaced gi:11641280.
            Summary: This gene encodes a member of the POP family of proteins
            containing three putative transmembrane domains. This gene is
            expressed in cardiac and skeletal muscle and may play an important
            role in these tissues during development.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1369
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q21"
                     /clone="MGC:22671 IMAGE:4293961"
                     /clone_lib="NIH_MGC_81"
     gene            1..1369
                     /gene="POP3"
                     /note="MGC22671"
                     /db_xref="LocusID:64208"
                     /db_xref="MIM:605824"
     CDS             280..1155
                     /gene="POP3"
                     /codon_start=1
                     /product="popeye protein 3"
                     /protein_id="NP_071756.2"
                     /db_xref="GI:21359947"
                     /db_xref="LocusID:64208"
                     /db_xref="MIM:605824"
                     /translation="MERNSSLWKNLIDEHPVCTTWKQEAEGAIYHLASILFVVGFMGG
                     SGFFGLLYVFSLLGLGFLCSAVWAWVDVCAADIFSWNFVLFVICFMQFVHIAYQVRSI
                     TFAREFQVLYSSLFQPLGISLPVFRTIALSSEVVTLEKEHCYAMQGKTSIDKLSLLVS
                     GRIRVTVDGEFLHYIFPLQFLDSPEWDSLRPTEEGIFQVTLTAETDCRYVSWRRKKLY
                     LLFAQHRYISRLFSVLIGSDIADKLYALNDRVYIGKRYHYDIRLPNFYQMSTPEIRRS
                     PLTQHFQNSRRYCDK"
     polyA_signal    1320..1325
                     /gene="POP3"
                     /evidence=experimental
     polyA_site      1345
                     /gene="POP3"
                     /evidence=experimental
BASE COUNT      409 a    280 c    276 g    404 t
ORIGIN      
        1 aagctccggg cagggctggg aaggaaagga aataccaaaa tatttgcaga ctggatccaa
       61 atcaggagcc cagatgaact taaagaagcg agcatgggat tcttagtttt tcaagatccg
      121 tacacacgaa gcctttaatc agcatcaact ccagtgtccg ttttctctgg ttttgtgaag
      181 actgcacaaa actctcatga tggagaacca aaggacttag ttacctgttt cagtgtcatc
      241 taaagtcaac tgaaaagtga agcaggcagt aatacagcca tggaaagaaa ttcaagttta
      301 tggaagaacc taatagatga acacccagtc tgcacaacct ggaagcaaga ggccgaagga
      361 gccatttatc atcttgccag tattttattt gtagtaggtt tcatgggtgg cagtggattc
      421 ttcgggctcc tttatgtctt cagtttgctg gggttgggtt ttctctgttc tgctgtctgg
      481 gcttgggtag atgtctgtgc agctgacata ttttcctgga attttgtact gtttgtcatc
      541 tgcttcatgc aatttgttca tattgcatat caagttcgca gcataacctt tgcccgagaa
      601 ttccaagtgt tgtacagctc ccttttccag cccctgggga tctctttgcc tgtcttcaga
      661 acgattgctt tgagctctga agtggttact ttggaaaagg aacactgtta tgccatgcag
      721 gggaaaactt ccattgataa actctccttg cttgtttcag gaaggatcag agtgacagtt
      781 gatggcgaat ttctgcatta cattttcccc cttcagttcc tggattctcc tgagtgggat
      841 tcactgagac ccacagagga aggcattttt caggtaaccc tcactgcaga aactgattgt
      901 cgatatgtgt cttggaggag aaagaaatta tatctgctct ttgctcagca tcgctacatc
      961 tcccgccttt tttcagtgct aattggcagt gacattgcag ataaactcta tgccttgaat
     1021 gacagggtat atataggaaa aagatatcac tatgatattc ggctacccaa cttctatcaa
     1081 atgtcaactc cagaaatacg cagatcaccc ctgacacaac attttcagaa ttccagacga
     1141 tactgtgata aatgacatca aagtctgaaa tttataagta taaaaaaaga ctctctcttc
     1201 atcattcccc agtgaaatag caaaatacaa aaaaagagct ccctaatgtt tttataaatc
     1261 aaattcagaa gcgagatgcc attgccaact gttttattcc tttcaacaac tgcattgtga
     1321 ataaacttta caaatttttc ttgtaaaaaa aaaaaaaaaa aaaaaaaaa
//



Revised: July 5, 2002.
 
 


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1: NM_001336. Homo sapiens cath...[gi:22538441] Links  


LOCUS       CTSZ                    1501 bp    mRNA    linear   PRI 29-AUG-2002
DEFINITION  Homo sapiens cathepsin Z (CTSZ), mRNA.
ACCESSION   NM_001336
VERSION     NM_001336.2  GI:22538441
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1501)
  AUTHORS   Santamaria,I., Velasco,G., Pendas,A.M., Fueyo,A. and Lopez-Otin,C.
  TITLE     Cathepsin Z, a novel human cysteine proteinase with a short
            propeptide domain and a unique chromosomal location
  JOURNAL   J. Biol. Chem. 273 (27), 16816-16823 (1998)
  MEDLINE   98307916
   PUBMED   9642240
REFERENCE   2  (bases 1 to 1501)
  AUTHORS   Nagler,D.K. and Menard,R.
  TITLE     Human cathepsin X: a novel cysteine protease of the papain family
            with a very short proregion and unique insertions
  JOURNAL   FEBS Lett. 434 (1-2), 135-139 (1998)
  MEDLINE   98408845
   PUBMED   9738465
REFERENCE   3  (bases 1 to 1501)
  AUTHORS   Pungercar,J. and Ivanovski,G.
  TITLE     Identification and molecular cloning of cathepsin P, a novel human
            putative cysteine protease of the papain family
  JOURNAL   Pflugers Arch. 439 (3 Suppl), R116-R118 (2000)
  MEDLINE   20116863
   PUBMED   10653162
REFERENCE   4  (bases 1 to 1501)
  AUTHORS   Pungercar,J., Viyjak,A., Ivanovski,G. and Krizaj,I.
  TITLE     Tissue expression and immunolocalization of a novel human cathepsin
            P
  JOURNAL   Pflugers Arch. 439 (3 Suppl), R119-R121 (2000)
  MEDLINE   20116864
   PUBMED   10653163
REFERENCE   5  (bases 1 to 1501)
  AUTHORS   Guncar,G., Klemencic,I., Turk,B., Turk,V.,
            Karaoglanovic-Carmona,A., Juliano,L. and Turk,D.
  TITLE     Crystal structure of cathepsin X: a flip-flop of the ring of His23
            allows carboxy-monopeptidase and carboxy-dipeptidase activity of
            the protease
  JOURNAL   Structure Fold. Des. 8 (3), 305-313 (2000)
  MEDLINE   20211865
   PUBMED   10745011
REFERENCE   6  (bases 1 to 1501)
  AUTHORS   Deussing,J., von Olshausen,I. and Peters,C.
  TITLE     Murine and human cathepsin Z: cDNA-cloning, characterization of the
            genes and chromosomal localization
  JOURNAL   Biochim. Biophys. Acta 1491 (1-3), 93-106 (2000)
  MEDLINE   20225452
   PUBMED   10760573
REFERENCE   7  (bases 1 to 1501)
  AUTHORS   Bonthron,D.T., Hayward,B.E., Moran,V. and Strain,L.
  TITLE     Characterization of TH1 and CTSZ, two non-imprinted genes
            downstream of GNAS1 in chromosome 20q13
  JOURNAL   Hum. Genet. 107 (2), 165-175 (2000)
  MEDLINE   20483332
   PUBMED   11030415
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF136273.1.
            On Aug 29, 2002 this sequence version replaced gi:4503158.
            Summary: The protein encoded by this gene is a lysosomal cysteine
            proteinase and member of the peptidase C1 family. It exhibits both
            carboxy-monopeptidase and carboxy-dipeptidase activities. The
            encoded protein has also been known as cathepsin X and cathepsin P.
            This gene is expressed ubiquitously in cancer cell lines and
            primary tumors and, like other members of this family, may be
            involved in tumorigenesis. At least two transcript variants of this
            gene have been found, but the full-length nature of only one of
            them has been determined.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1501
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13"
     gene            1..1501
                     /gene="CTSZ"
                     /note="CTSX"
                     /db_xref="LocusID:1522"
                     /db_xref="MIM:603169"
     CDS             126..1037
                     /gene="CTSZ"
                     /note="cathepsin X precursor; preprocathepsin P; cathepsin
                     Z precursor"
                     /codon_start=1
                     /product="cathepsin Z preproprotein"
                     /protein_id="NP_001327.2"
                     /db_xref="GI:22538442"
                     /db_xref="LocusID:1522"
                     /db_xref="MIM:603169"
                     /translation="MARRGPGWRPLLLLVLLAGAAQGGLYFRRGQTCYRPLRGDGLAP
                     LGRSTYPRPHEYLSPADLPKSWDWRNVDGVNYASITRNQHIPQYCGSCWAHASTSAMA
                     DRINIKRKGAWPSTLLSVQNVIDCGNAGSCEGGNDLSVWDYAHQHGIPDETCNNYQAK
                     DQECDKFNQCGTCNEFKECHAIRNYTLWRVGDYGSLSGREKMMAEIYANGPISCGIMA
                     TERLANYTGGIYAEYQDTTYINHVVSVAGWGISDGTEYWIVRNSWGEPWGERGWLRIV
                     TSTYKDGKGARYNLAIEEHCTFGDPIV"
     sig_peptide     126..194
                     /gene="CTSZ"
     mat_peptide     309..1034
                     /gene="CTSZ"
                     /product="cathepsin Z"
     misc_feature    309..971
                     /gene="CTSZ"
                     /note="Region: smart00645, Pept_C1, Papain family cysteine
                     protease"
     misc_feature    309..968
                     /gene="CTSZ"
                     /note="Region: pfam00112, Peptidase_C1, Papain family
                     cysteine protease"
     misc_feature    195..1034
                     /gene="CTSZ"
                     /note="cathepsin Z proprotein"
     polyA_signal    1476..1481
                     /gene="CTSZ"
     polyA_site      1501
                     /gene="CTSZ"
                     /evidence=experimental
BASE COUNT      345 a    382 c    494 g    280 t
ORIGIN      
        1 ggggtcggcc gggtgctagg ccggggccga ggccgaggcc ggggcgggat ccagagcggg
       61 agccggcgcg ggatctggga ctcggagcgg gatccggagc gggacccagg agccggcgcg
      121 gggccatggc gaggcgcggg ccagggtggc ggccgcttct gctgctcgtg ctgctggcgg
      181 gcgcggcgca gggcggcctc tacttccgcc ggggacagac ctgctaccgg cctctgcggg
      241 gggacgggct ggctccgctg gggcgcagca catacccccg gcctcatgag tacctgtccc
      301 cagcggatct gcccaagagc tgggactggc gcaatgtgga tggtgtcaac tatgccagca
      361 tcacccggaa ccagcacatc ccccaatact gcggctcctg ctgggcccac gccagcacca
      421 gcgctatggc ggatcggatc aacatcaaga ggaagggagc gtggccctcc accctcctgt
      481 ccgtgcagaa cgtcatcgac tgcggtaacg ctggctcctg tgaagggggt aatgacctgt
      541 ccgtgtggga ctacgcccac cagcacggca tccctgacga gacctgcaac aactaccagg
      601 ccaaggacca ggagtgtgac aagtttaacc aatgtgggac atgcaatgaa ttcaaagagt
      661 gccacgccat ccggaactac accctctgga gggtgggaga ctacggctcc ctctctggga
      721 gggagaagat gatggcagaa atctacgcaa atggtcccat cagctgtgga ataatggcaa
      781 cagaaagact ggctaactac accggaggca tctatgccga ataccaggac accacatata
      841 taaaccatgt cgtttccgtg gctgggtggg gcatcagtga tgggactgag tactggattg
      901 tccggaattc atggggtgaa ccatggggcg agagaggctg gctgaggatc gtgaccagca
      961 cctataagga tgggaagggc gccagataca accttgccat cgaggagcac tgtacatttg
     1021 gggaccccat cgtttaaggc catgtcacta gaagcgcagt ttaagaaaag gcatggtgac
     1081 ccatgaccag aggggatcct atggttatgt gtgccaggct ggctggcagg aactggggtg
     1141 gctatcaata ttggatggcg aggacagcgt ggtactggct gcgagtgttc ctgagagttg
     1201 aaagtgggat gacttatgac acttgcacag catggctctg cctcacaatg atgcagtcag
     1261 ccacctggtg aagaagtgac ctgcaacaca ggaaacgatg ggacctcagt cttcttcagc
     1321 agaggacttg atattttgta tttggcaact gtgggcaata atatggcatt taagaggtga
     1381 aagagttcag acttatcacc attcttatgt cactttagaa tcaagggtgg gggagggagg
     1441 gagggagttg gcagtttcaa atcgcccaag tgatgaataa agtatctggc tctgcacgag
     1501 a
//



Revised: July 5, 2002.
 
 


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1: NM_001069. Homo sapiens tubu...[gi:4507728] Links  


LOCUS       TUBB                    1594 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens tubulin, beta polypeptide (TUBB), mRNA.
ACCESSION   NM_001069
VERSION     NM_001069.1  GI:4507728
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1594)
  AUTHORS   Leffers,H., Wiemann,S. and Ansorge,W.
  TITLE     Cloning and vaccinia virus expression of a cDNA containing the
            complete coding seqeunce of human beta tubulin mRNA
  JOURNAL   Unpublished
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from X79535.1.
FEATURES             Location/Qualifiers
     source          1..1594
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.3"
                     /clone="nuk_278"
                     /cell_line="non fractionated non cultures normal
                     keratinocytes"
                     /cell_type="keratinocytes"
                     /tissue_type="skin"
                     /clone_lib="lambda ZapII"
     gene            1..1594
                     /gene="TUBB"
                     /note="M40"
                     /db_xref="LocusID:7280"
                     /db_xref="MIM:191130"
     CDS             64..1401
                     /gene="TUBB"
                     /codon_start=1
                     /product="tubulin, beta polypeptide"
                     /protein_id="NP_001060.1"
                     /db_xref="GI:4507729"
                     /db_xref="LocusID:7280"
                     /db_xref="MIM:191130"
                     /translation="MREIVHIQAGQCGNQIGAKFWEVISDEHGIDPTGSYHGDSDLQL
                     ERINVYYNEAAGNKYVPRAILVDLEPGTMDSVRSGPFGQIFRPDNFVFGQSGAGNNWA
                     KGHYTEGAELVDSVLDVVRKESESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEYP
                     DRIMNTFSVMPSPKVSDTVVEPYNATLSVHQLVENTDETYSIDNEALYDICFRTLKLT
                     TPTYGDLNHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSR
                     GSQQYRALTVPELTQQMFDSKNMMAACDPRHGRYLTVAAIFRGRMSMKEVDEQMLNVQ
                     NKNSSYFVEWIPNNVKTAVCDIPPRGLKMSATFIGNSTAIQELFKRISEQFTAMFRRK
                     AFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATADEQGEFEEEEGEDEA"
     misc_feature    196..795
                     /gene="TUBB"
                     /note="Region: pfam00091, tubulin, Tubulin/FtsZ family,
                     GTPase domain. This family includes the tubulin alpha,
                     beta and gamma chains, as well as the bacterial FtsZ
                     family of proteins. Members of this family are involved in
                     polymer formation. FtsZ is the polymer-forming protein of
                     bacterial cell division. It is part of a ring in the
                     middle of the dividing cell that is required for
                     constriction of cell membrane and cell envelope to yield
                     two daughter cells. FtsZ and tubulin are GTPases. FtsZ can
                     polymerise into tubes, sheets, and rings in vitro and is
                     ubiquitous in eubacteria and archaea. Tubulin is the major
                     component of microtubules"
     misc_feature    799..1212
                     /gene="TUBB"
                     /note="Region: pfam03953, tubulin_C, Tubulin/FtsZ family,
                     C-terminal domain. This family includes the tubulin alpha,
                     beta and gamma chains, as well as the bacterial FtsZ
                     family of proteins. Members of this family are involved in
                     polymer formation. FtsZ is the polymer-forming protein of
                     bacterial cell division. It is part of a ring in the
                     middle of the dividing cell that is required for
                     constriction of cell membrane and cell envelope to yield
                     two daughter cells. FtsZ and tubulin are GTPases. FtsZ can
                     polymerise into tubes, sheets, and rings in vitro and is
                     ubiquitous in eubacteria and archaea. Tubulin is the major
                     component of microtubules"
     variation       138
                     /gene="TUBB"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1133240"
     variation       138
                     /gene="TUBB"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3194808"
     variation       153
                     /gene="TUBB"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1054294"
     variation       162
                     /gene="TUBB"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1054295"
     variation       186
                     /gene="TUBB"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1054296"
     variation       226
                     /gene="TUBB"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1140970"
     variation       226
                     /gene="TUBB"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3204984"
     variation       243
                     /gene="TUBB"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1133244"
     variation       258
                     /gene="TUBB"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1133245"
     variation       258
                     /gene="TUBB"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3194823"
     variation       273
                     /gene="TUBB"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1054304"
     variation       279
                     /gene="TUBB"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1054305"
     variation       285
                     /gene="TUBB"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3209185"
     variation       288
                     /gene="TUBB"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3209186"
     variation       291
                     /gene="TUBB"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1054309"
     variation       303
                     /gene="TUBB"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1054310"
     variation       330
                     /gene="TUBB"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1133246"
     variation       330
                     /gene="TUBB"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3194831"
     variation       339
                     /gene="TUBB"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3194832"
     variation       339
                     /gene="TUBB"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1133247"
     variation       complement(559)
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:2808002"
     variation       complement(616)
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3734487"
     variation       complement(627)
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:2259136"
     variation       complement(627)
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3734486"
     variation       665
                     /gene="TUBB"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1054331"
     variation       672
                     /gene="TUBB"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1054332"
     variation       complement(730)
                     /note="WARNING: map location ambiguous"
                     /allele="-"
                     /allele="C"
                     /db_xref="dbSNP:3832415"
     variation       complement(806)
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2808001"
     variation       complement(814)
                     /note="WARNING: map location ambiguous"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3734485"
     variation       837
                     /gene="TUBB"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2071347"
     variation       1157
                     /gene="TUBB"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1053267"
     variation       1311
                     /gene="TUBB"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1054494"
     variation       1360
                     /gene="TUBB"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1054419"
     variation       1508
                     /gene="TUBB"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3205007"
     variation       1510
                     /gene="TUBB"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3205008"
     polyA_signal    1576..1581
                     /gene="TUBB"
BASE COUNT      357 a    485 c    462 g    290 t
ORIGIN      
        1 gcccgccggt ccacgccgcg caccgctccg agggccagcg ccacccgctc cgcagccggc
       61 accatgcgcg agatcgtgca catccaggcg ggccagtgcg gcaaccagat cggcgccaag
      121 ttttgggagg tcatcagcga tgagcatggg atcgacccca caggcagtta ccatggagac
      181 agtgacttgc agctggagag aatcaacgtg tactacaatg aggctgctgg taacaaatat
      241 gtacctcggg ccatcctggt ggatctggag cctggcacca tggactctgt caggtctgga
      301 cccttcggcc agatcttcag accagacaac ttcgtgttcg gccagagtgg agccgggaat
      361 aactgggcca agggccacta cacagaggga gccgagctgg tcgactcggt cctggatgtg
      421 gtgaggaagg agtcagagag ctgtgactgt ctccagggct tccagctgac ccactctctg
      481 gggggcggca cggggtccgg gatgggcacc ctgctcatca gcaagatccg ggaagagtac
      541 ccagaccgca tcatgaacac cttcagcgtc atgccctcac ccaaggtgtc agacacggtg
      601 gtggagccct acaacgccac cctctcggtc caccagctgg tggaaaacac agatgaaacc
      661 tactccattg ataacgaggc cctgtatgac atctgcttcc gcaccctgaa gctgaccacc
      721 cccacctacg gggacctcaa ccacctggtg tcggccacca tgagcggggt caccacctgc
      781 ctgcgcttcc cgggccagct gaacgcagac ctgcgcaagc tggcggtgaa catggtgccc
      841 ttccctcgcc tgcacttctt catgcccggc ttcgcgcccc tgaccagccg gggcagccag
      901 cagtaccggg cgctcacggt gcccgagctc acccagcaga tgttcgactc caagaacatg
      961 atggccgcct gcgacccgcg ccacggccgc tacctgacgg tggctgccat cttccggggc
     1021 cgcatgtcca tgaaggaggt ggacgagcag atgctcaacg tgcagaacaa gaacagcagc
     1081 tacttcgtgg agtggatccc caacaacgtg aagacggccg tgtgcgacat cccgccccgc
     1141 ggcctgaaga tgtcggccac cttcatcggc aacagcacgg ccatccagga gctgttcaag
     1201 cgcatctccg agcagttcac ggccatgttc cggcgcaagg ccttcctgca ctggtacacg
     1261 ggcgagggca tggacgagat ggagttcacc gaggccgaga gcaacatgaa cgacctggtg
     1321 tccgagtacc agcagtacca ggacgccacg gccgacgaac aaggggagtt cgaggaggag
     1381 gagggcgagg acgaggctta aaaacttctc agatcaatcg tgcatcctta gtgaacttct
     1441 gttgtcctca agcatggtct ttctacttgt aaactatggt gctcagtttt gcctctgtta
     1501 gaaattcaca ctgttgatgt aatgatgtgg aactcctcta aaaattacag tattgtctgt
     1561 gaaggtatct atactaataa aaaagcatgt gtag
//



Revised: July 5, 2002.
 
 


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1: NM_001199. Homo sapiens bone...[gi:4502420] Links  


LOCUS       BMP1                    2487 bp    mRNA    linear   PRI 03-FEB-2001
DEFINITION  Homo sapiens bone morphogenetic protein 1 (BMP1), transcript
            variant BMP1-1, mRNA.
ACCESSION   NM_001199
VERSION     NM_001199.1  GI:4502420
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2487)
  AUTHORS   Wozney,J.M., Rosen,V., Celeste,A.J., Mitsock,L.M., Whitters,M.J.,
            Kriz,R.W., Hewick,R.M. and Wang,E.A.
  TITLE     Novel regulators of bone formation: molecular clones and activities
  JOURNAL   Science 242 (4885), 1528-1534 (1988)
  MEDLINE   89072730
   PUBMED   3201241
REFERENCE   2  (bases 1 to 2487)
  AUTHORS   Tabas,J.A., Zasloff,M., Wasmuth,J.J., Emanuel,B.S., Altherr,M.R.,
            McPherson,J.D., Wozney,J.M. and Kaplan,F.S.
  TITLE     Bone morphogenetic protein: chromosomal localization of human genes
            for BMP1, BMP2A, and BMP3
  JOURNAL   Genomics 9 (2), 283-289 (1991)
  MEDLINE   91169531
   PUBMED   2004778
REFERENCE   3  (bases 1 to 2487)
  AUTHORS   Takahara,K., Lyons,G.E. and Greenspan,D.S.
  TITLE     Bone morphogenetic protein-1 and a mammalian tolloid homologue
            (mTld) are encoded by alternatively spliced transcripts which are
            differentially expressed in some tissues
  JOURNAL   J. Biol. Chem. 269 (51), 32572-32578 (1994)
  MEDLINE   95096114
   PUBMED   7798260
REFERENCE   4  (bases 1 to 2487)
  AUTHORS   Takahara,K., Lee,S., Wood,S. and Greenspan,D.S.
  TITLE     Structural organization and genetic localization of the human bone
            morphogenetic protein 1/mammalian tolloid gene
  JOURNAL   Genomics 29 (1), 9-15 (1995)
  MEDLINE   96079086
   PUBMED   8530106
REFERENCE   5  (bases 1 to 2487)
  AUTHORS   Kessler,E., Takahara,K., Biniaminov,L., Brusel,M. and
            Greenspan,D.S.
  TITLE     Bone morphogenetic protein-1: the type I procollagen C-proteinase
  JOURNAL   Science 271 (5247), 360-362 (1996)
  MEDLINE   96144687
   PUBMED   8553073
REFERENCE   6  (bases 1 to 2487)
  AUTHORS   Li,S.W., Sieron,A.L., Fertala,A., Hojima,Y., Arnold,W.V. and
            Prockop,D.J.
  TITLE     The C-proteinase that processes procollagens to fibrillar collagens
            is identical to the protein previously identified as bone
            morphogenic protein-1
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 93 (10), 5127-5130 (1996)
  MEDLINE   96209868
   PUBMED   8643539
REFERENCE   7  (bases 1 to 2487)
  AUTHORS   Janitz,M., Heiser,V., Bottcher,U., Landt,O. and Lauster,R.
  TITLE     Three alternatively spliced variants of the gene coding for the
            human bone morphogenetic protein-1
  JOURNAL   J. Mol. Med. 76 (2), 141-146 (1998)
  MEDLINE   98160316
   PUBMED   9500680
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M22488.1.
            Summary: The BMP1 locus encodes a protein that is capable of
            inducing formation of cartilage in vivo.  Although other bone
            morphogenetic proteins are members of the TGF-beta superfamily,
            BMP1 encodes a protein that is not closely related to other known
            growth factors. BMP1 protein and procollagen C proteinase (PCP), a
            secreted metalloprotease requiring calcium and needed for cartilage
            and bone formation, are identical. PCP or BMP1 protein cleaves the
            C-terminal propeptides of procollagen I, II, and III and its
            activity is increased by the procollagen C-endopeptidase enhancer
            protein.  The BMP1 gene is expressed as alternatively spliced
            variants that share an N-terminal protease domain but differ in
            their C-terminal region.
            Transcript Variant: This is splice variant BMP1-1. BMP1-1 does not
            contain sequence from alternatively spliced exons 6, 11, 16, 19, 20
            and 22 through 26.
FEATURES             Location/Qualifiers
     source          1..2487
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21"
     gene            1..2487
                     /gene="BMP1"
                     /db_xref="LocusID:649"
                     /db_xref="MIM:112264"
     CDS             30..2222
                     /gene="BMP1"
                     /EC_number="3.4.24.-"
                     /note="splice variant BMP1-1; PCP"
                     /codon_start=1
                     /product="bone morphogenetic protein 1, isoform 1,
                     precursor"
                     /protein_id="NP_001190.1"
                     /db_xref="GI:4502421"
                     /db_xref="LocusID:649"
                     /db_xref="MIM:112264"
                     /translation="MPGVARLPLLLGLLLLPRPGRPLDLADYTYDLAEEDDSEPLNYK
                     DPCKAAAFLGDIALDEEDLRAFQVQQAVDLRRHTARKSSIKAAVPGNTSTPSCQSTNG
                     QPQRGACGRWRGRSRSRRAATSRPERVWPDGVIPFVIGGNFTGSQRAVFRQAMRHWEK
                     HTCVTFLERTDEDSYIVFTYRPCGCCSYVGRRGGGPQAISIGKNCDKFGIVVHELGHV
                     VGFWHEHTRPDRDRHVSIVRENIQPGQEYNFLKMEPQEVESLGETYDFDSIMHYARNT
                     FSRGIFLDTIVPKYEVNGVKPPIGQRTRLSKGDIAQARKLYKCPACGETLQDSTGNFS
                     SPEYPNGYSAHMHCVWRISVTPGEKIILNFTSLDLYRSRLCWYDYVEVRDGFWRKAPL
                     RGRFCGSKLPEPIVSTDSRLWVEFRSSSNWVGKGFFAVYEAICGGDVKKDYGHIQSPN
                     YPDDYRPSKVCIWRIQVSEGFHVGLTFQSFEIERHDSCAYDYLEVRDGHSESSTLIGR
                     YCGYEKPDDIKSTSSRLWLKFVSDGSINKAGFAVNFFKEVDECSRPNRGGCEQRCLNT
                     LGSYKCSCDPGYELAPDKRRCEAACGGFLTKLNGSITSPGWPKEYPPNKNCIWQLVAP
                     TQYRISLQFDFFETEGNDVCKYDFVEVRSGLTADSKLHGKFCGSEKPEVITSQYNNMR
                     VEFKSDNTVSKKGFKAHFFSEKRPALQPPRGRPHQLKFRVQKRNRTPQ"
     sig_peptide     30..95
                     /gene="BMP1"
     mat_peptide     390..2219
                     /gene="BMP1"
                     /product="bone morphogenetic protein 1"
     misc_feature    390..992
                     /gene="BMP1"
                     /note="Region: metalloprotease domain"
     misc_feature    411..983
                     /gene="BMP1"
                     /note="Astacin; Region: Astacin (Peptidase family M12A)"
                     /db_xref="CDD:pfam01400"
     misc_feature    453..788
                     /gene="BMP1"
                     /note="ZnMc; Region: Zinc-dependent metalloprotease"
                     /db_xref="CDD:ZnMc"
     misc_feature    993..1331
                     /gene="BMP1"
                     /note="Region: CUB I domain"
     misc_feature    993..1331
                     /gene="BMP1"
                     /note="CUB; Region: Domain first found in C1r, C1s, uEGF,
                     and bone morphogenetic protein."
                     /db_xref="CDD:CUB"
     misc_feature    993..1322
                     /gene="BMP1"
                     /note="CUB; Region: CUB domain"
                     /db_xref="CDD:pfam00431"
     misc_feature    1332..1670
                     /gene="BMP1"
                     /note="CUB; Region: Domain first found in C1r, C1s, uEGF,
                     and bone morphogenetic protein."
                     /db_xref="CDD:CUB"
     misc_feature    1332..1667
                     /gene="BMP1"
                     /note="Region: CUB II domain"
     misc_feature    1332..1661
                     /gene="BMP1"
                     /note="CUB; Region: CUB domain"
                     /db_xref="CDD:pfam00431"
     misc_feature    1668..1793
                     /gene="BMP1"
                     /note="Region: EGF-like, calcium-binding domain"
     misc_feature    1668..1766
                     /gene="BMP1"
                     /note="EGF_CA; Region: Calcium-binding EGF-like domain"
                     /db_xref="CDD:EGF_CA"
     misc_feature    1677..1793
                     /gene="BMP1"
                     /note="EGF; Region: Epidermal growth factor-like domain"
                     /db_xref="CDD:EGF"
     misc_feature    1800..2138
                     /gene="BMP1"
                     /note="Region: CUB III domain"
     misc_feature    1800..2138
                     /gene="BMP1"
                     /note="CUB; Region: Domain first found in C1r, C1s, uEGF,
                     and bone morphogenetic protein."
                     /db_xref="CDD:CUB"
     misc_feature    1800..2129
                     /gene="BMP1"
                     /note="CUB; Region: CUB domain"
                     /db_xref="CDD:pfam00431"
     misc_feature    96..2219
                     /gene="BMP1"
                     /note="encodes bone morphogenetic protein 1 proprotein"
     variation       1799
                     /gene="BMP1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2229777"
BASE COUNT      503 a    804 c    707 g    473 t
ORIGIN      
        1 gccgcttccc tcgccgccgc cccgccagca tgcccggcgt ggcccgcctg ccgctgctgc
       61 tcgggctgct gctgctcccg cgtcccggcc ggccgctgga cttggccgac tacacctatg
      121 acctggcgga ggaggacgac tcggagcccc tcaactacaa agacccctgc aaggcggctg
      181 cctttcttgg ggacattgcc ctggacgaag aggacctgag ggccttccag gtacagcagg
      241 ctgtggatct cagacggcac acagctcgta agtcctccat caaagctgca gttccaggaa
      301 acacttctac ccccagctgc cagagcacca acgggcagcc tcagagggga gcctgtggga
      361 gatggagagg tagatcccgt agccggcggg cggcgacgtc ccgaccagag cgtgtgtggc
      421 ccgatggggt catccccttt gtcattgggg gaaacttcac tggtagccag agggcagtct
      481 tccggcaggc catgaggcac tgggagaagc acacctgtgt caccttcctg gagcgcactg
      541 acgaggacag ctatattgtg ttcacctatc gaccttgcgg gtgctgctcc tacgtgggtc
      601 gccgcggcgg gggcccccag gccatctcca tcggcaagaa ctgtgacaag ttcggcattg
      661 tggtccacga gctgggccac gtcgtcggct tctggcacga acacactcgg ccagaccggg
      721 accgccacgt ttccatcgtt cgtgagaaca tccagccagg gcaggagtat aacttcctga
      781 agatggagcc tcaggaggtg gagtccctgg gggagaccta tgacttcgac agcatcatgc
      841 attacgctcg gaacacattc tccaggggca tcttcctgga taccattgtc cccaagtatg
      901 aggtgaacgg ggtgaaacct cccattggcc aaaggacacg gctcagcaag ggggacattg
      961 cccaagcccg caagctttac aagtgcccag cctgtggaga gaccctgcaa gacagcacag
     1021 gcaacttctc ctcccctgaa taccccaatg gctactctgc tcacatgcac tgcgtgtggc
     1081 gcatctctgt cacacccggg gagaagatca tcctgaactt cacgtccctg gacctgtacc
     1141 gcagccgcct gtgctggtac gactatgtgg aggtccgaga tggcttctgg aggaaggcgc
     1201 ccctccgagg ccgcttctgc gggtccaaac tccctgagcc tatcgtctcc actgacagcc
     1261 gcctctgggt tgaattccgc agcagcagca attgggttgg aaagggcttc tttgcagtct
     1321 acgaagccat ctgcgggggt gatgtgaaaa aggactatgg ccacattcaa tcgcccaact
     1381 acccagacga ttaccggccc agcaaagtct gcatctggcg gatccaggtg tctgagggct
     1441 tccacgtggg cctcacattc cagtcctttg agattgagcg ccacgacagc tgtgcctacg
     1501 actatctgga ggtgcgcgac gggcacagtg agagcagcac cctcatcggg cgctactgtg
     1561 gctatgagaa gcctgatgac atcaagagca cgtccagccg cctctggctc aagttcgtct
     1621 ctgacgggtc cattaacaaa gcgggctttg ccgtcaactt tttcaaagag gtggacgagt
     1681 gctctcggcc caaccgcggg ggctgtgagc agcggtgcct caacaccctg ggcagctaca
     1741 agtgcagctg tgaccccggg tacgagctgg ccccagacaa gcgccgctgt gaggctgctt
     1801 gtggcggatt cctcaccaag ctcaacggct ccatcaccag cccgggctgg cccaaggagt
     1861 acccccccaa caagaactgc atctggcagc tggtggcccc cacccagtac cgcatctccc
     1921 tgcagtttga cttctttgag acagagggca atgatgtgtg caagtacgac ttcgtggagg
     1981 tgcgcagtgg actcacagct gactccaagc tgcatggcaa gttctgtggt tctgagaagc
     2041 ccgaggtcat cacctcccag tacaacaaca tgcgcgtgga gttcaagtcc gacaacaccg
     2101 tgtccaaaaa gggcttcaag gcccacttct tctcagaaaa gaggccagct ctgcagcccc
     2161 ctcggggacg cccccaccag ctcaaattcc gagtgcagaa aagaaaccgg accccccagt
     2221 gaggcctgcc aggcctcccg gaccccttgt tactcaggaa cctcaccttg gacggaatgg
     2281 gatgggggct tcggtgccca ccaacccccc acctccactc tgccattccg gcccacctcc
     2341 ctctggccgg acagaactgg tgctctcttc tccccactgt gcccgtccgc ggaccgggga
     2401 cccttccccg tgccctaccc cctcccattt tgatggtgtc tgtgacattt cctgttgtga
     2461 agtaaaagag ggacccctgc gtcctgc
//



Revised: July 5, 2002.
 
 


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1: NM_000943. Homo sapiens pept...[gi:20149506] Links  


LOCUS       PPIC                    1015 bp    mRNA    linear   PRI 14-MAY-2002
DEFINITION  Homo sapiens peptidylprolyl isomerase C (cyclophilin C) (PPIC),
            mRNA.
ACCESSION   NM_000943
VERSION     NM_000943.2  GI:20149506
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1015)
  AUTHORS   Strausberg,R.
  TITLE     Homo sapiens peptidylprolyl isomerase C (cyclophilin C) (PPIC),
            mRNA
  JOURNAL   Unpublished (2001)
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC002678.1.
            On Apr 15, 2002 this sequence version replaced gi:4505990.
FEATURES             Location/Qualifiers
     source          1..1015
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q23.2"
                     /clone="MGC:3673 IMAGE:3610178"
                     /tissue_type="Uterus, endometrium adenocarcinoma"
                     /clone_lib="NIH_MGC_44"
                     /lab_host="DH10B-R"
                     /note="Vector: pOTB7"
     gene            1..1015
                     /gene="PPIC"
                     /note="CYPC"
                     /db_xref="LocusID:5480"
                     /db_xref="MIM:123842"
     CDS             88..726
                     /gene="PPIC"
                     /EC_number="5.2.1.8"
                     /codon_start=1
                     /product="peptidylprolyl isomerase C (cyclophilin C)"
                     /protein_id="NP_000934.1"
                     /db_xref="GI:4505991"
                     /db_xref="LocusID:5480"
                     /db_xref="MIM:123842"
                     /translation="MGPGPRLLLPLVLCVGLGALVFSSGAEGFRKRGPSVTAKVFFDV
                     RIGDKDVGRIVIGLFGKVVPKTVENFVALATGEKGYGYKGSKFHRVIKDFMIQGGDIT
                     TGDGTGGVSIYGETFPDENFKLKHYGIGWVSMANAGPDTNGSQFFITLTKPTWLDGKH
                     VVFGKVIDGMTVVHSIELQATDGHDRPLTNCSIINSGKIDVKTPFVVEIADW"
     misc_feature    202..684
                     /gene="PPIC"
                     /note="pro_isomerase; Region: Cyclophilin type
                     peptidyl-prolyl cis-trans isomerase"
                     /db_xref="CDD:pfam00160"
BASE COUNT      250 a    220 c    271 g    274 t
ORIGIN      
        1 ggcacgaggc ccgtcagctg tcccagagcc tgtgtcgcgc ccgtgccggt agcgcccgtg
       61 ccggtagcgc cgctgccacc gctcaccatg ggcccgggtc ctcggctgct gctacctctc
      121 gtgctttgcg tggggctcgg cgcacttgtg ttttcttcgg gggccgaggg cttccgcaag
      181 cgaggcccct cggtgacggc caaggtcttc tttgatgtga ggattggaga caaagatgtt
      241 ggcagaattg tgattggcct ctttggaaaa gttgtgccca agacagtgga aaattttgtt
      301 gctctagcaa caggagagaa aggatatgga tataaaggaa gcaagtttca tcgtgtcatc
      361 aaggatttca tgattcaagg aggtgacatc accactggag atggcactgg gggtgtgagc
      421 atctatggtg agacatttcc agatgagaac ttcaagctga agcactatgg cattgggtgg
      481 gtcagcatgg ccaacgctgg gcctgacacc aatggctctc agttctttat caccttgacc
      541 aagcccacct ggttggacgg caaacatgtg gtgtttggaa aagtcattga tgggatgaca
      601 gtggtgcact ccatagagct ccaagcaact gatgggcatg accgtccact caccaactgc
      661 tcgatcatca acagtggcaa gatagacgtg aaaacgcctt ttgtggttga gatcgctgat
      721 tggtgacaca actggcagaa aacaaggata tgctttggca ggggtgtgtg tgtgtgtgtg
      781 tgtgtgtgtg tgttgtgttg tctttcaatt atttgctttt tttttttact ttctttttgt
      841 attctatccc agatcacagg aaagttataa aaatcaaacc gtcacccttt agtttgcttg
      901 aactttagta aaccacctgc ttagggactt tgaacttaaa tatatcccct tcctcaagtg
      961 gtgctatttt aaaactaaaa aaaactttga attggcaaaa aaaaaaaaaa aaaaa
//



Revised: July 5, 2002.
 
 


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1: NM_001084. Homo sapiens proc...[gi:21361165] Links  


LOCUS       PLOD3                   2852 bp    mRNA    linear   PRI 18-AUG-2002
DEFINITION  Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
            (PLOD3), mRNA.
ACCESSION   NM_001084
VERSION     NM_001084.2  GI:21361165
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2852)
  AUTHORS   Valtavaara,M., Szpirer,C., Szpirer,J. and Myllyla,R.
  TITLE     Primary structure, tissue distribution, and chromosomal
            localization of a novel isoform of lysyl hydroxylase (lysyl
            hydroxylase 3)
  JOURNAL   J. Biol. Chem. 273 (21), 12881-12886 (1998)
  MEDLINE   98250732
   PUBMED   9582318
REFERENCE   2  (bases 1 to 2852)
  AUTHORS   Passoja,K., Rautavuoma,K., Ala-Kokko,L., Kosonen,T. and
            Kivirikko,K.I.
  TITLE     Cloning and characterization of a third human lysyl hydroxylase
            isoform
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 95 (18), 10482-10486 (1998)
  MEDLINE   98393670
   PUBMED   9724729
REFERENCE   3  (bases 1 to 2852)
  AUTHORS   Heikkinen,J., Risteli,M., Wang,C., Latvala,J., Rossi,M.,
            Valtavaara,M. and Myllyla,R.
  TITLE     Lysyl hydroxylase 3 is a multifunctional protein possessing
            collagen glucosyltransferase activity
  JOURNAL   J. Biol. Chem. 275 (46), 36158-36163 (2000)
  MEDLINE   20549631
   PUBMED   10934207
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC011674.1.
            On Jun 10, 2002 this sequence version replaced gi:4505890.
FEATURES             Location/Qualifiers
     source          1..2852
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22"
                     /clone="MGC:15175 IMAGE:4300048"
                     /tissue_type="Pancreas, epithelioid carcinoma"
                     /clone_lib="NIH_MGC_42"
                     /lab_host="DH10B-R"
                     /note="Vector: pOTB7"
     gene            1..2852
                     /gene="PLOD3"
                     /note="LH3"
                     /db_xref="LocusID:8985"
                     /db_xref="MIM:603066"
     variation       242
                     /gene="PLOD3"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1056678"
     CDS             323..2539
                     /gene="PLOD3"
                     /note="procollagen-lysine, 2-oxoglutarate 5-dioxygenase
                     3v; lysyl hydroxylase 3"
                     /codon_start=1
                     /product="procollagen-lysine, 2-oxoglutarate 5-dioxygenase
                     3"
                     /protein_id="NP_001075.1"
                     /db_xref="GI:4505891"
                     /db_xref="LocusID:8985"
                     /db_xref="MIM:603066"
                     /translation="MTSSGPGPRFLLLLPLLLPPAASASDRPRGRDPVNPEKLLVITV
                     ATAETEGYLRFLRSAEFFNYTVRTLGLGEEWRGGDVARTVGGGQKVRWLKKEMEKYAD
                     REDMIIMFVDSYDVILAGSPTELLKKFVQSGSRLLFSAESFCWPEWGLAEQYPEVGTG
                     KRFLNSGGFIGFATTIHQIVRQWKYKDDDDDQLFYTRLYLDPGLREKLSLNLDHKSRI
                     FQNLNGALDEVVLKFDRNRVRIRNVAYDTLPIVVHGNGPTKLQLNYLGNYVPNGWTPE
                     GGCGFCNQDRRTLPGGQPPPRVFLAVFVEQPTPFLPRFLQRLLLLDYPPDRVTLFLHN
                     NEVFHEPHIADSWPQLQDHFSAVKLVGPEEALSPGEARDMAMDLCRQDPECEFYFSLD
                     ADAVLTNLQTLRILIEENRKVIAPMLSRHGKLWSNFWGALSPDEYYARSEDYVELVQR
                     KRVGVWNVPYISQAYVIRGDTLRMELPQRDVFSGSDTDPDMAFCKSFRDKGIFLHLSN
                     QHEFGRLLATSRYDTEHLHPDLWQIFDNPVDWKEQYIHENYSRALEGEGIVEQPCPDV
                     YWFPLLSEQMCDELVAEMEHYGQWSGGRHEDSRLAGGYENVPTVDIHMKQVGYEDQWL
                     QLLRTYVGPMTESLFPGYHTKARAVMNFVVRYRPDEQPSLRPHHDSSTFTLNVALNHK
                     GLDYEGGGCRFLRYDCVISSPRKGWALLHPGRLTHYHEGLPTTWGTRYIMVSFVDP"
     misc_feature    2012..2530
                     /gene="PLOD3"
                     /note="Region: smart00702, P4Hc, Prolyl 4-hydroxylase
                     alpha subunit homologues; Mammalian enzymes catalyse
                     hydroxylation of collagen, for example. Prokaryotic
                     enzymes might catalyse hydroxylation of antibiotic
                     peptides. These are 2-oxoglutarate-dependent dioxygenases,
                     requiring 2-oxoglutarate and dioxygen as cosubstrates and
                     ferrous iron as a cofactor"
     misc_feature    2261..2536
                     /gene="PLOD3"
                     /note="Region: pfam03171, 2OG-FeII_Oxy, 2OG-Fe(II)
                     oxygenase superfamily. This family contains members of the
                     2-oxoglutarate (2OG) and Fe(II)-dependent oxygenase
                     superfamily. This family includes the C-terminal of prolyl
                     4-hydroxylase alpha subunit. The holoenzyme has the
                     activity EC:1.14.11.2 catalysing the reaction: Procollagen
                     L-proline + 2-oxoglutarate + O2 <=> procollagen trans-
                     4-hydroxy-L-proline + succinate + CO2. The full enzyme
                     consists of a alpha2 beta2 complex with the alpha subunit
                     contributing most of the parts of the active site. The
                     family also includes lysyl hydrolases, isopenicillin
                     synthases and AlkB"
     variation       1178
                     /gene="PLOD3"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3197269"
     variation       1178
                     /gene="PLOD3"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1134907"
BASE COUNT      545 a    903 c    842 g    562 t
ORIGIN      
        1 ggcacgaggg cttccacatg tgtcaagcgg ctggctcagc ccagagtccc tgtctcccgc
       61 ccgccggccc gagccgccgc ccctcccccg cctcccgtgc gcccgggaca atcctcgcct
      121 tgtctgtggc gccggcatct ggagctttct gtagcctccg gatacgcctt tttttcaggg
      181 cgtagcccca gccaagctgc tccccgcggc ggccgcacag cagcccgagc gccccctttc
      241 cggagctccc ctccggagct gggatccagg cgcgtagcgg agatcccagg atcctgggtg
      301 ctgtctgggc ccgctcccca ccatgacctc ctcggggcct ggaccccggt tcctgctgct
      361 gctgccgctg ctgctgcccc ctgcggcctc agcctccgac cggccccggg gccgagaccc
      421 ggtcaaccca gagaagctgc tggtgatcac tgtggccaca gctgaaaccg aggggtacct
      481 gcgtttcctg cgctctgcgg agttcttcaa ctacactgtg cggaccctgg gcctgggaga
      541 ggagtggcga gggggtgatg tggctcgaac agttggtgga ggacagaagg tccggtggtt
      601 aaagaaggaa atggagaaat acgctgaccg ggaggatatg atcatcatgt ttgtggatag
      661 ctacgacgtg attctggccg gcagccccac agagctgctg aagaagttcg tccagagtgg
      721 cagccgcctg ctcttctctg cagagagctt ctgctggccc gagtgggggc tggcggagca
      781 gtaccctgag gtgggcacgg ggaagcgctt cctcaattct ggtggattca tcggttttgc
      841 caccaccatc caccaaatcg tgcgccagtg gaagtacaag gatgatgacg acgaccagct
      901 gttctacaca cggctctacc tggacccagg actgagggag aaactcagcc ttaatctgga
      961 tcataagtct cggatctttc agaacctcaa cggggcttta gatgaagtgg ttttaaagtt
     1021 tgatcggaac cgtgtgcgta tccggaacgt ggcctacgac acgctcccca ttgtggtcca
     1081 tggaaacggt cccactaagc tgcagctcaa ctacctggga aactacgtcc ccaatggctg
     1141 gactcctgag ggaggctgtg gcttctgcaa ccaggaccgg aggacactcc cgggggggca
     1201 gcctcccccc cgggtgtttc tggccgtgtt tgtggaacag cctactccgt ttctgccccg
     1261 cttcctgcag cggctgctac tcctggacta tccccccgac agggtcaccc ttttcctgca
     1321 caacaacgag gtcttccatg aaccccacat cgctgactcc tggccgcagc tccaggacca
     1381 cttctcagct gtgaagctcg tggggccgga ggaggctctg agcccaggcg aggccaggga
     1441 catggccatg gacctgtgtc ggcaggaccc cgagtgtgag ttctacttca gcctggacgc
     1501 cgacgctgtc ctcaccaacc tgcagaccct gcgtatcctc attgaggaga acaggaaggt
     1561 gatcgccccc atgctgtccc gccacggcaa gctgtggtcc aacttctggg gcgccctgag
     1621 ccccgatgag tactacgccc gctccgagga ctacgtggag ctggtgcagc ggaagcgagt
     1681 gggtgtgtgg aatgtaccat acatctccca ggcctatgtg atccggggtg ataccctgcg
     1741 gatggagctg ccccagaggg atgtgttctc gggcagtgac acagacccgg acatggcctt
     1801 ctgtaagagc tttcgagaca agggcatctt cctccatctg agcaatcagc atgaatttgg
     1861 ccggctcctg gccacttcca gatacgacac ggagcacctg caccccgacc tctggcagat
     1921 cttcgacaac cccgtcgact ggaaggagca gtacatccac gagaactaca gccgggccct
     1981 ggaaggggaa ggaatcgtgg agcagccatg cccggacgtg tactggttcc cactgctgtc
     2041 agaacaaatg tgtgatgagc tggtggcaga gatggagcac tacggccagt ggtcaggcgg
     2101 ccggcatgag gattcaaggc tggctggagg ctacgagaat gtgcccaccg tggacatcca
     2161 catgaagcag gtggggtacg aggaccagtg gctgcagctg ctgcggacgt atgtgggccc
     2221 catgaccgag agcctgtttc ccggttacca caccaaggcg cgggcggtga tgaactttgt
     2281 ggttcgctac cggccagacg agcagccgtc tctgcggcca caccacgact catccacctt
     2341 caccctcaac gttgccctca accacaaggg cctggactat gagggaggtg gctgccgctt
     2401 cctgcgctac gactgtgtga tctcctcccc gaggaagggc tgggcactcc tgcaccccgg
     2461 ccgcctcacc cactaccacg aggggctgcc aacgacctgg ggcacacgct acatcatggt
     2521 gtcctttgtc gacccctgac actcaaccac tctgccaaac ctgccctgcc attgtgcctt
     2581 tttagggggc ctggcccccg tcctgggagt tgggggatgg gtctctctgt ctccccactt
     2641 cctgagttca tgttccgcgt gcctgaactg aatatgtcac cttgctccca agacacggcc
     2701 ctctcaggaa gctcccggag tccccgcctc tctcctccgc ccacaggggt tcgtgggcac
     2761 agggcttctg gggactcccc gcgtgataaa ttattaatgt tccgcagtct cactctgaat
     2821 aaaggacagt ttgtaaaaaa aaaaaaaaaa aa
//



Revised: July 5, 2002.
 
 


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1: NM_000093. Homo sapiens coll...[gi:16554578] Links  


LOCUS       COL5A1                  6496 bp    mRNA    linear   PRI 31-OCT-2001
DEFINITION  Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.
ACCESSION   NM_000093
VERSION     NM_000093.2  GI:16554578
KEYWORDS    .
SOURCE      Homo sapiens.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6496)
  AUTHORS   Takahara,K., Sato,Y., Okazawa,K., Okamoto,N., Noda,A., Yaoi,Y. and
            Kato,I.
  TITLE     Complete primary structure of human collagen alpha 1 (V) chain
  JOURNAL   J. Biol. Chem. 266 (20), 13124-13129 (1991)
  MEDLINE   91302336
   PUBMED   2071595
REFERENCE   2  (bases 1 to 6496)
  AUTHORS   Greenspan,D.S., Cheng,W. and Hoffman,G.G.
  TITLE     The pro-alpha 1(V) collagen chain. Complete primary structure,
            distribution of expression, and comparison with the pro-alpha 1(XI)
            collagen chain
  JOURNAL   J. Biol. Chem. 266 (36), 24727-24733 (1991)
  MEDLINE   92105142
   PUBMED   1722213
REFERENCE   3  (bases 1 to 6496)
  AUTHORS   Greenspan,D.S., Byers,M.G., Eddy,R.L., Cheng,W., Jani-Sait,S. and
            Shows,T.B.
  TITLE     Human collagen gene COL5A1 maps to the q34.2----q34.3 region of
            chromosome 9, near the locus for nail-patella syndrome
  JOURNAL   Genomics 12 (4), 836-837 (1992)
  MEDLINE   92241890
   PUBMED   1572660
REFERENCE   4  (bases 1 to 6496)
  AUTHORS   Takahara,K., Hoffman,G.G. and Greenspan,D.S.
  TITLE     Complete structural organization of the human alpha 1 (V) collagen
            gene (COL5A1): divergence from the conserved organization of other
            characterized fibrillar collagen genes
  JOURNAL   Genomics 29 (3), 588-597 (1995)
  MEDLINE   96121369
   PUBMED   8575750
REFERENCE   5  (bases 1 to 6496)
  AUTHORS   De Paepe,A., Nuytinck,L., Hausser,I., Anton-Lamprecht,I. and
            Naeyaert,J.M.
  TITLE     Mutations in the COL5A1 gene are causal in the Ehlers-Danlos
            syndromes I and II
  JOURNAL   Am. J. Hum. Genet. 60 (3), 547-554 (1997)
  MEDLINE   97195540
   PUBMED   9042913
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D90279.1, L38808.1 and
            M76729.1.
            On Oct 31, 2001 this sequence version replaced gi:4502956.
            Summary: This gene encodes an alpha chain for one of the low
            abundance fibrillar collagens. Fibrillar collagen molecules are
            trimers that can be composed of one or more types of alpha chains.
            Type V collagen is found in tissues containing type I collagen and
            appears to regulate the assembly of heterotypic fibers composed of
            both type I and type V collagen. This gene product is closely
            related to type XI collagen and it is possible that the collagen
            chains of types V and XI constitute a single collagen type with
            tissue-specific chain combinations. Mutations in this gene are
            associated with Ehlers-Danlos syndrome, types I and II.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6496
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.2-q34.3"
     gene            1..6496
                     /gene="COL5A1"
                     /db_xref="LocusID:1289"
                     /db_xref="MIM:120215"
     CDS             383..5899
                     /gene="COL5A1"
                     /codon_start=1
                     /product="alpha 1 type V collagen preproprotein"
                     /protein_id="NP_000084.2"
                     /db_xref="GI:16554579"
                     /db_xref="LocusID:1289"
                     /db_xref="MIM:120215"
                     /translation="MDVHTRWKARSALRPGAPLLPPLLLLLLWAPPPSRAAQPADLLK
                     VLDFHNLPDGITKTTGFCATRRSSKGPDVAYRVTKDAQLSAPTKQLYPASAFPEDFSI
                     LTTVKAKKGSQAFLVSIYNEQGIQQIGLELGRSPVFLYEDHTGKPGPEDYPLFRGINL
                     SDGKWHRIALSVHKKNVTLILDCKKKTTKFLDRSDHPMIDINGIIVFGTRILDEEVFE
                     GDIQQLLFVSDHRAAYDYCEHYSPDCDTAVPDTPQSQDPNPDEYYTEGDGEGETYYYE
                     YPYYEDPEDLGKEPTPSKKPVEAAKETTEVPEELTPTPTEAAPMPETSEGAGKEEDVG
                     IGDYDYVPSEDYYTPSPYDDLTYGEGEENPDQPTDPGAGAEIPTSTADTSNSSNPAPP
                     PGEGADDLEGEFTEETIRNLDENYYDPYYDPTSSPSEIGPGMPANQDTIYEGIGGPRG
                     EKGQKGEPAIIEPGMLIEGPPGPEGPAGLPGPPGTMGPTGQVGDPGERGPPGRPGLPG
                     ADGLPGPPGTMLMLPFRFGGGGDAGSKGPMVSAQESQAQAILQQARLALRGPAGPMGL
                     TGRPGPVGPPGSGGLKGEPGDVGPQGPRGVQGPPGPAGKPGRRGRAGSDGARGMPGQT
                     GPKGDRGFDGLAGLPGEKGHRGDPGPSGPPGPPGDDGERGDDGEVGPRGLPGEPGPRG
                     LLGPKGPPGPPGPPGVTGMDGQPGPKGNVGPQGEPGPPGQQGNPGAQGLPGPQGAIGP
                     PGEKGPLGKPGLPGMPGADGPPGHPGKEGPPGEKGGQGPPGPQGPIGYPGPRGVKGAD
                     GIRGLKGTKGEKGEDGFPGFKGDMGIKGDRGEIGPPGPRGEDGPEGPKGRGGPNGDPG
                     PLGPPGEKGKLGVPGLPGYPGRQGPKGSIGFPGFPGANGEKGGRGTPGKPGPRGQRGP
                     TGPRGERGPRGITGKPGPKGNSGGDGPAGPPGERGPNGPQGPTGFPGPKGPPGPPGKD
                     GLPGHPGQRGETGFQGKTGPPGPPGVVGPQGPTGETGPMGERGHPGPPGPPGEQGLPG
                     LAGKEGTKGDPGPAGLPGKDGPPGLRGFPGDRGLPGPVGALGLKGNEGPPGPPGPAGS
                     PGERGPAGAAGPIGIPGRPGPQGPPGPAGEKGAPGEKGPQGPAGRDGLQGPVGLPGPA
                     GPVGPPGEDGDKGEIGEPGQKGSKGDKGEQGPPGPTGPQGPIGQPGPSGADGEPGPRG
                     QQGLFGQKGDEGPRGFPGPPGPVGLQGLPGPPGEKGETGDVGQMGPPGPPGPRGPSGA
                     PGADGPQGPPGGIGNPGAVGEKGEPGEAGEPGPSGRSGPPGPKGERGEKGESGPSGAA
                     GPPGPKGPPGDDGPKGSPGPVGFPGDPGPPGEPGPAGQDGPPGDKGDDGEPGQTGSPG
                     PTGEPGPSGPPGKRGPPGPAGPEGRQGEKGAKGEAGLEGPPGKTGPIGPQGAPGKPGP
                     DGLRGIPGPVGEQGLPGSPGPDGPPGPMGPPGLPGLKGDSGPKGEKGHPGLIGLIGPP
                     GEQGEKGDRGLPGPQGSSGPKGEQGITGPSGPIGPPGPPGLPGPPGPKGAKGSSGPTG
                     PKGEAGHPGPPGPPGPPGEVIQPLPIQASRTRRNIDASQLLDDGNGENYVDYADGMEE
                     IFGSLNSLKLEIEQMKRPLGTQQNPARTCKDLQLCHPDFPDGEYWVDPNQGCSRDSFK
                     VYCNFTAGGSTCVFPDKKSEGARITSWPKENPGSWFSEFKRGKLLSYVDAEGNPVGVV
                     QMTFLRLLSASAHQNVTYHCYQSVAWQDAATGSYDKALRFLGSNDEEMSYDNNPYIRA
                     LVDGCATKKGYQKTVLEIDTPKVEQVPIVDIMFNDFGEASQKFGFEVGPACFMG"
     sig_peptide     383..493
                     /gene="COL5A1"
     mat_peptide     494..5197
                     /gene="COL5A1"
                     /product="alpha 1 type V collagen"
     misc_feature    497..1072
                     /gene="COL5A1"
                     /note="TSPN; Region: Thrombospondin N-terminal -like
                     domain"
                     /db_xref="CDD:pfam02210"
     misc_feature    497..1072
                     /gene="COL5A1"
                     /note="TSPN; Region: Thrombospondin N-terminal -like
                     domains."
                     /db_xref="CDD:smart00210"
     misc_feature    677..1060
                     /gene="COL5A1"
                     /note="LamG; Region: Laminin G domain"
                     /db_xref="CDD:smart00282"
     misc_feature    5204..5893
                     /gene="COL5A1"
                     /note="COLFI; Region: Fibrillar collagens C-terminal
                     domain"
                     /db_xref="CDD:smart00038"
     misc_feature    5255..5890
                     /gene="COL5A1"
                     /note="COLFI; Region: Fibrillar collagen C-terminal
                     domain. Found at C-termini of fibrillar collagens:
                     Ephydatia muelleri procollagen EMF1 alpha"
                     /db_xref="CDD:pfam01410"
     misc_feature    494..5899
                     /gene="COL5A1"
                     /note="alpha 1 type V collagen proprotein"
     variation       4864
                     /gene="COL5A1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2228560"
     variation       complement(4864)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3811146"
     variation       4942
                     /gene="COL5A1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2228559"
     variation       5486
                     /gene="COL5A1"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1134038"
     variation       5498
                     /gene="COL5A1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1134039"
     variation       5500
                     /gene="COL5A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1134040"
     variation       5502
                     /gene="COL5A1"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1134041"
     variation       5509
                     /gene="COL5A1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1134042"
     variation       5652
                     /gene="COL5A1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2229817"
     variation       5989
                     /gene="COL5A1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:13946"
     variation       6173
                     /gene="COL5A1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:12722"
     variation       6217
                     /gene="COL5A1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1134114"
     polyA_signal    6453..6458
                     /gene="COL5A1"
     polyA_site      6496
                     /gene="COL5A1"
BASE COUNT     1347 a   2068 c   2113 g    968 t
ORIGIN      
        1 cgcactctcc gtccccgcgg ctggcgcagg acctcactcg agcggagcgc ccacggggag
       61 cgggtcgcgg ggcggcggcg gcgaggagga ggcgagaagg agttggagga ggaggaggag
      121 gaggcgaggg cgagcgagcc cagcggggtc ccggccgccc cgcgggccaa agtcgagccc
      181 tcccgcccgt gggcgagcgc gccagccgcc ccttccagaa cagccgccgc cacaaagaag
      241 aacggggggt gccgaggtcc ccatgacctc ctaaagtggt gcggtccctg ctgagtgcgc
      301 tgcccgggcc gtgacccgcg cccctgtgcg tccccgcgcg cctccgagcg cccctgtgcg
      361 ccccggcccg cgccccgccg gcatggacgt ccatacccgc tggaaagcgc gcagcgcgct
      421 ccgcccgggc gccccgctgc tgcccccgct gctgctgctg ctgctgtggg cgccgcctcc
      481 gagccgcgca gctcagccag cagatctcct gaaggttcta gattttcaca acttgcctga
      541 tggaataaca aagacaacag gcttttgcgc cacgcggcga tcttccaaag gcccggatgt
      601 cgcttacaga gtcaccaaag acgcgcagct cagcgcaccc accaagcagc tgtaccctgc
      661 gtctgcattt cccgaggact tctccatcct aacaactgtg aaagccaaga aaggcagcca
      721 ggccttcctg gtctccatct acaacgagca gggtatccag cagattgggc tggagctggg
      781 ccgctctccc gtcttcctct acgaggacca cacggggaag cctggcccgg aagactaccc
      841 cctcttccgg ggcatcaacc tgtcagatgg caagtggcac agaattgctc tcagcgtcca
      901 caagaaaaat gtcaccttga tcctcgactg taaaaagaag accaccaaat tcctcgaccg
      961 cagcgaccac cccatgatcg acatcaatgg catcatcgtg tttggcaccc ggatcctgga
     1021 tgaggaggtg tttgagggtg acatccagca gctgctcttt gtctcggacc accgggcagc
     1081 ttatgattac tgtgagcact acagccctga ctgtgacacc gcagtacctg acaccccaca
     1141 gtcgcaggac cccaatccag atgaatatta cacggaagga gacggcgagg gtgagaccta
     1201 ttactacgaa tacccctact acgaagaccc cgaagaccta gggaaggagc ccacccccag
     1261 caagaagccc gtggaagctg ccaaagaaac cacagaggtc cccgaggagc tgaccccgac
     1321 ccccacggaa gctgctccca tgcctgaaac cagtgaaggg gctgggaagg aagaggacgt
     1381 cggcatcggg gactatgact acgtgcccag tgaggactac tacacgccct caccgtatga
     1441 tgacctcacc tatggcgagg gggaggagaa ccctgaccag cccacagacc caggcgctgg
     1501 ggccgaaatt cccaccagca ccgccgacac ctccaactcc tccaatccag ctccgcctcc
     1561 aggggaaggt gcggatgact tggaggggga gttcactgag gaaacgatcc ggaaccttga
     1621 cgagaactac tacgacccct actacgaccc caccagctcc ccgtcggaga tcgggccggg
     1681 aatgccggcg aaccaggata ccatctatga agggattgga ggacctcggg gcgagaaagg
     1741 ccaaaaggga gaaccagcga ttatcgagcc gggcatgctc atcgagggcc cgcctggccc
     1801 agaaggcccc gcgggtcttc ccggacctcc aggaaccatg ggtcccactg gccaagtcgg
     1861 ggaccctgga gaaaggggcc cccctggacg cccaggcctt cctggggccg atggcctgcc
     1921 cggtcctcca ggaaccatgc tcatgctgcc cttccggttt ggaggtggcg gcgatgcggg
     1981 ctccaaaggc cccatggtct cagcccagga gtcccaggcg caagccattc tccagcaggc
     2041 caggttggca ctgaggggac cagctggccc gatgggtctc acagggagac ctggccctgt
     2101 gggtccccct gggagcggag gtttgaaggg cgagccggga gacgtggggc ctcagggtcc
     2161 tcgaggtgtg caaggcccgc ctggtccggc cgggaagccc ggaagacggg gtcgggctgg
     2221 gagtgatgga gccagaggaa tgcctggaca aactggcccc aagggtgacc ggggtttcga
     2281 cggcctggct gggttgccag gcgagaaggg ccacaggggt gaccctggtc cttccggccc
     2341 accaggacct ccgggagacg atggagaaag gggtgacgac ggagaagttg ggcccagggg
     2401 gctgcctggg gagcccgggc cacgtggtct gcttgggccg aaagggcccc caggtcctcc
     2461 cggacctccc ggtgtcacgg gtatggacgg ccagccgggg ccaaaaggaa atgtgggtcc
     2521 ccagggagag cctggccccc caggacagca gggtaatcca ggcgcccagg gtcttccagg
     2581 cccccagggt gcaattggtc ctccaggaga aaagggtccc ttggggaaac caggccttcc
     2641 aggaatgccc ggtgctgacg gacccccggg acaccctggc aaagaaggcc ctccaggaga
     2701 gaaaggaggt cagggtccac ctggccccca gggtccgatt ggctacccag gtcctcgagg
     2761 agtcaagggg gccgatggca tccgtggtct gaagggcaca aagggcgaga agggtgaaga
     2821 cggctttcct gggtttaaag gagacatggg catcaagggt gatcgggggg agatcggccc
     2881 acccggtccc aggggagaag atggccctga aggcccaaag ggtcgcggag gtcccaatgg
     2941 tgaccccggt cctctgggac cccctgggga gaagggaaaa ctcggagtcc cagggttacc
     3001 agggtatcca ggaagacaag gaccaaaggg ctctattgga ttccctggat ttcctggcgc
     3061 caatggagag aagggcggca gggggacccc tggaaagcca ggaccgcggg ggcagcgagg
     3121 cccaacgggt ccgaggggtg aaagaggccc ccggggcatc actgggaagc ctggccccaa
     3181 gggcaactcc ggaggtgacg gcccagctgg ccctcctggt gaacggggac ccaatggacc
     3241 ccaaggaccc acaggatttc ctggaccaaa gggcccccct ggccctccag gcaaggatgg
     3301 actcccagga caccctggac agagaggcga gactggtttc caaggcaaga ccggccctcc
     3361 aggccccccc ggcgtggtcg gccctcaggg tcccacggga gaaacgggcc caatgggtga
     3421 gcgtggccac cctgggcccc ctggaccccc cggtgaacag gggcttccgg gccttgctgg
     3481 aaaagaaggg acgaagggtg acccaggccc tgcaggcctc cctgggaaag atggccctcc
     3541 aggattacgt ggtttccctg gggaccgagg gcttcctggt ccagtgggag ctcttggact
     3601 gaaaggcaat gaagggcccc ctggcccacc aggccctgcg ggatctccag gggagagagg
     3661 tccagctgga gccgctgggc ccatcggaat tccagggaga cctgggcccc agggaccccc
     3721 agggccggca ggagagaaag gggctcctgg cgagaaaggc ccacaaggcc cagctggccg
     3781 agacggtctc caggggcctg tggggctccc gggtccagct ggccctgtgg gtccccctgg
     3841 agaagacgga gataagggag agatcgggga gccggggcag aaaggaagca agggggacaa
     3901 aggagaacag ggtcctcctg ggcctacagg tcctcaaggc cccatcggac agccaggccc
     3961 ctctggagct gacggcgagc cggggcctcg gggccagcag ggccttttcg ggcagaaagg
     4021 tgatgaaggt cccagaggct ttcctggacc ccctgggcca gtggggctgc agggtttgcc
     4081 aggacctcca ggcgagaagg gtgagacagg agacgtgggc cagatgggcc ccccgggtcc
     4141 ccctggcccc cgaggaccct ccggagctcc aggtgctgat ggcccacaag gtcccccagg
     4201 tggaatagga aaccctggtg cagtgggaga gaagggcgag cctggcgaag caggtgagcc
     4261 tggcccttcc gggagaagcg gccccccggg acccaaagga gaaaggggag agaagggcga
     4321 gtcaggccct tcaggtgctg ccggaccccc tggacccaaa ggccctcccg gagatgatgg
     4381 tcccaaaggc agccctggcc cagtgggttt tcctggagat cctggccccc ccggagagcc
     4441 tggccccgcg ggtcaagatg gtccccctgg tgacaaagga gatgatggtg aacccgggca
     4501 gacgggatcc cccggcccta ctggtgaacc aggtccatcg gggcctccag gaaaaagggg
     4561 tcccccaggc cccgcaggcc ccgaaggcag acagggagag aaaggggcca agggagaagc
     4621 cggcttggaa ggccctcctg ggaagactgg ccccatcggc ccccaggggg cccctgggaa
     4681 gcccggaccg gatggccttc gagggatccc tggccctgtg ggagaacaag gtctcccagg
     4741 atccccaggc ccggacggtc cccccggccc catgggtccc ccaggacttc ccggcctcaa
     4801 aggagattct ggtcccaaag gtgaaaaggg tcatccaggc ctgatcgggc tcatcggtcc
     4861 tccgggtgaa cagggtgaga agggcgaccg tggtctccct ggcccccagg gctcctccgg
     4921 tcctaaggga gaacagggta tcactggtcc ttctggcccg attgggcctc ctgggccccc
     4981 tggcctgccg ggtccgcctg gtccaaaagg tgctaagggc tcctcgggtc caactggccc
     5041 gaagggtgag gcaggccacc caggaccccc aggccccccg ggccccccgg gagaggtcat
     5101 ccagcccctg ccaatccagg catccaggac gcggcggaac atcgacgcca gccagctgct
     5161 ggacgacggg aatggcgaga actacgtgga ctacgcggac ggcatggaag agatcttcgg
     5221 ctctctcaac tctctgaagc tggagattga gcagatgaaa cggcccctgg gcacgcagca
     5281 gaaccccgcc cgcacctgca aggacctgca gctctgccac cccgacttcc cagatggtga
     5341 atactgggtc gatcctaacc aaggatgctc cagggattcc ttcaaggttt actgcaactt
     5401 cacagccggg gggtcgacat gcgtcttccc tgacaagaag tccgaagggg ccagaatcac
     5461 ttcttggccc aaagaaaacc cgggctcctg gttcagtgaa ttcaagcgtg ggaaactgct
     5521 ctcctatgtg gacgccgagg gcaaccctgt gggtgtggta cagatgacct tcctgcggct
     5581 gctgagcgcc tctgcccacc agaacgtcac ctaccactgc taccagtcag tggcctggca
     5641 ggacgcagcc acgggcagct acgacaaggc cctccgcttc ctgggctcca acgacgagga
     5701 gatgtcctat gacaacaacc cctacatccg cgccctggtg gacggctgtg ctaccaagaa
     5761 aggctaccag aagacggttc tggagatcga cacccccaaa gtggagcagg tgcccatcgt
     5821 ggacatcatg ttcaatgact tcggtgaagc gtcacagaaa tttggatttg aagtggggcc
     5881 ggcttgcttc atgggctagg agccgccgag cccgggctcc cgagccgaat tcagcaacct
     5941 cgtacctcag catgccattg cttcgtgagt gtcccgtgca cgtcctgatc ctggacagtg
     6001 aaggcttctc cctcccctcc cacctgactt catctacgcc tcggcaccac ggggtgtggg
     6061 accccagccc ggagagaaca gagggaagga gccgcgcccc cacctggagc tgaatcacat
     6121 gacctagctg caccccagcg cctgggcccg ccccacgctc tgtccacacc catgcgcccc
     6181 gggagcgggg ccatgcctcc agccccccag ctcgcccgac ccatcctgtt cgtgaatagg
     6241 tctcaggggt tgggggaggg actgccagat ttggacacta tatttttttc taaattcaac
     6301 ttgaagatgt gtatttcccc tgaccttcaa aaaatgttcc aaggtaagcc tcgtaaaggt
     6361 catcccacca tcaccaaagc ctccgttttt aacaacctcc aacacgatcc atttagaggc
     6421 caaatgtcat tctgcaggtg ccttcccgat ggattaaagg tgcttatgtt tttgtgagtt
     6481 ttaagtaaat atttgt
//



Revised: July 5, 2002.
 
 


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1: NM_001154. Homo sapiens anne...[gi:4809273] Links  


LOCUS       ANXA5                   1630 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens annexin A5 (ANXA5), mRNA.
ACCESSION   NM_001154
VERSION     NM_001154.2  GI:4809273
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1630)
  AUTHORS   Funakoshi,T., Heimark,R.L., Hendrickson,L.E., McMullen,B.A. and
            Fujikawa,K.
  TITLE     Human placental anticoagulant protein: isolation and
            characterization
  JOURNAL   Biochemistry 26 (17), 5572-5578 (1987)
  MEDLINE   88050845
   PUBMED   2960376
REFERENCE   2  (bases 1 to 1630)
  AUTHORS   Iwasaki A, Suda M, Nakao H, Nagoya T, Saino Y, Arai K, Mizoguchi T,
            Sato F, Yoshizaki H, Hirata M et al.
  TITLE     Structure and expression of cDNA for an inhibitor of blood
            coagulation isolated from human placenta: a new lipocortin-like
            protein
  JOURNAL   J. Biochem. 102 (5), 1261-1273 (1987)
  MEDLINE   88139278
   PUBMED   2963810
REFERENCE   3  (bases 1 to 1630)
  AUTHORS   Funakoshi T, Hendrickson LE, McMullen BA and Fujikawa K.
  TITLE     Primary structure of human placental anticoagulant protein
  JOURNAL   Biochemistry 26 (25), 8087-8092 (1987)
  MEDLINE   88163463
   PUBMED   2964863
REFERENCE   4  (bases 1 to 1630)
  AUTHORS   Kaplan R, Jaye M, Burgess WH, Schlaepfer DD and Haigler HT.
  TITLE     Cloning and expression of cDNA for human endonexin II, a Ca2+ and
            phospholipid binding protein
  JOURNAL   J. Biol. Chem. 263 (17), 8037-8043 (1988)
  MEDLINE   88228020
   PUBMED   2967291
REFERENCE   5  (bases 1 to 1630)
  AUTHORS   Grundmann U, Abel KJ, Bohn H, Lobermann H, Lottspeich F and Kupper
            H.
  TITLE     Characterization of cDNA encoding human placental anticoagulant
            protein (PP4): homology with the lipocortin family
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 85 (11), 3708-3712 (1988)
  MEDLINE   88234495
   PUBMED   2967495
REFERENCE   6  (bases 1 to 1630)
  AUTHORS   Maurer-Fogy I, Reutelingsperger CP, Pieters J, Bodo G, Stratowa C
            and Hauptmann R.
  TITLE     Cloning and expression of cDNA for human vascular anticoagulant, a
            Ca2+-dependent phospholipid-binding protein
  JOURNAL   Eur. J. Biochem. 174 (4), 585-592 (1988)
  MEDLINE   88271329
   PUBMED   2455636
REFERENCE   7  (bases 1 to 1630)
  AUTHORS   Pepinsky RB, Tizard R, Mattaliano RJ, Sinclair LK, Miller GT,
            Browning JL, Chow EP, Burne C, Huang KS, Pratt D et al.
  TITLE     Five distinct calcium and phospholipid binding proteins share
            homology with lipocortin I
  JOURNAL   J. Biol. Chem. 263 (22), 10799-10811 (1988)
  MEDLINE   88273202
   PUBMED   2968983
REFERENCE   8  (bases 1 to 1630)
  AUTHORS   Cookson,B.T., Engelhardt,S., Smith,C., Bamford,H.A., Prochazka,M.
            and Tait,J.F.
  TITLE     Organization of the human annexin V (ANX5) gene
  JOURNAL   Genomics 20 (3), 463-467 (1994)
  MEDLINE   94307733
   PUBMED   8034319
REFERENCE   9  (bases 1 to 1630)
  AUTHORS   Demange,P., Voges,D., Benz,J., Liemann,S., Gottig,P., Berendes,R.,
            Burger,A. and Huber,R.
  TITLE     Annexin V: the key to understanding ion selectivity and voltage
            regulation?
  JOURNAL   Trends Biochem. Sci. 19 (7), 272-276 (1994)
  MEDLINE   94324081
   PUBMED   7519374
REFERENCE   10 (bases 1 to 1630)
  AUTHORS   Fernandez,M.P., Morgan,R.O., Fernandez,M.R. and Carcedo,M.T.
  TITLE     The gene encoding human annexin V has a TATA-less promoter with a
            high G+C content
  JOURNAL   Gene 149 (2), 253-260 (1994)
  MEDLINE   95047484
   PUBMED   7958998
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U01691.1, J03745.1 and
            U01681.1.
            On May 13, 1999 this sequence version replaced gi:4502106.
            Summary:  Annexin V belongs to the annexin family of
            calcium-dependent phospholipid binding proteins some of which have
            been implicated in membrane-related events along exocytotic and
            endocytotic pathways. Annexin V is a phospholipase A2 and protein
            kinase C inhibitory protein with calcium channel activity and a
            potential role in cellular signal transduction, inflammation,
            growth and differentiation.  Annexin V has also been described as
            placental anticoagulant protein I, vascular anticoagulant-alpha,
            endonexin II, lipocortin V, placental protein 4 and anchorin CII.
            The gene spans 29 kb containing 13 exons, and encodes a single
            transcript of approximately 1.6 kb and a protein product with a
            molecular weight of about 35 kDa.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1630
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q28-q32"
     gene            1..1630
                     /gene="ANXA5"
                     /note="ENX2; ANX5"
                     /db_xref="LocusID:308"
                     /db_xref="MIM:131230"
     variation       129
                     /gene="ANXA5"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1050606"
     variation       192
                     /gene="ANXA5"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3190948"
     variation       192
                     /gene="ANXA5"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1131239"
     CDS             193..1155
                     /gene="ANXA5"
                     /note="anchorin CII, lipocortin V, endonexin II, placental
                     anticoagulant protein(PAP)-I, placental protein (PP)4,
                     vascular anticoagulant (VAC)-alpha; placental
                     anticoagulant protein I"
                     /codon_start=1
                     /product="annexin V"
                     /protein_id="NP_001145.1"
                     /db_xref="GI:4502107"
                     /db_xref="LocusID:308"
                     /db_xref="MIM:131230"
                     /translation="MAQVLRGTVTDFPGFDERADAETLRKAMKGLGTDEESILTLLTS
                     RSNAQRQEISAAFKTLFGRDLLDDLKSELTGKFEKLIVALMKPSRLYDAYELKHALKG
                     AGTNEKVLTEIIASRTPEELRAIKQVYEEEYGSSLEDDVVGDTSGYYQRMLVVLLQAN
                     RDPDAGIDEAQVEQDAQALFQAGELKWGTDEEKFITIFGTRSVSHLRKVFDKYMTISG
                     FQIEETIDRETSGNLEQLLLAVVKSIRSIPAYLAETLYYAMKGAGTDDHTLIRVMVSR
                     SEIDLFNIRKEFRKNFATSLYSMIKGDTSGDYKKALLLLCGEDD"
     misc_feature    250..444
                     /gene="ANXA5"
                     /note="annexin; Region: Annexin"
                     /db_xref="CDD:pfam00191"
     misc_feature    286..444
                     /gene="ANXA5"
                     /note="ANX; Region: Annexin repeats"
                     /db_xref="CDD:ANX"
     misc_feature    463..660
                     /gene="ANXA5"
                     /note="annexin; Region: Annexin"
                     /db_xref="CDD:pfam00191"
     misc_feature    502..660
                     /gene="ANXA5"
                     /note="ANX; Region: Annexin repeats"
                     /db_xref="CDD:ANX"
     misc_feature    712..912
                     /gene="ANXA5"
                     /note="annexin; Region: Annexin"
                     /db_xref="CDD:pfam00191"
     misc_feature    754..912
                     /gene="ANXA5"
                     /note="ANX; Region: Annexin repeats"
                     /db_xref="CDD:ANX"
     misc_feature    934..1137
                     /gene="ANXA5"
                     /note="annexin; Region: Annexin"
                     /db_xref="CDD:pfam00191"
     misc_feature    979..1137
                     /gene="ANXA5"
                     /note="ANX; Region: Annexin repeats"
                     /db_xref="CDD:ANX"
     variation       1395
                     /gene="ANXA5"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1804120"
     variation       1495
                     /gene="ANXA5"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:17718"
     variation       1582
                     /gene="ANXA5"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:9611"
     polyA_signal    1603..1608
                     /gene="ANXA5"
BASE COUNT      438 a    344 c    384 g    464 t
ORIGIN      
        1 agggccgggg tggggcgctg gcgtttccgt tgcttggatc agtctaggtg cagctgcgga
       61 tccttcagcg tctgcatctc ggcgtcgccc cgcgtaccgt cgcccggctc tccgccgctc
      121 tcccgggggt tcggggcact tgggtcccac agtctggtcc tgcttcacct tcccctgacc
      181 tgagtagtcg ccatggcaca ggttctcaga ggcactgtga ctgacttccc tggatttgat
      241 gagcgggctg atgcagaaac tcttcggaag gctatgaaag gcttgggcac agatgaggag
      301 agcatcctga ctctgttgac atcccgaagt aatgctcagc gccaggaaat ctctgcagct
      361 tttaagactc tgtttggcag ggatcttctg gatgacctga aatcagaact aactggaaaa
      421 tttgaaaaat taattgtggc tctgatgaaa ccctctcggc tttatgatgc ttatgaactg
      481 aaacatgcct tgaagggagc tggaacaaat gaaaaagtac tgacagaaat tattgcttca
      541 aggacacctg aagaactgag agccatcaaa caagtttatg aagaagaata tggctcaagc
      601 ctggaagatg acgtggtggg ggacacttca gggtactacc agcggatgtt ggtggttctc
      661 cttcaggcta acagagaccc tgatgctgga attgatgaag ctcaagttga acaagatgct
      721 caggctttat ttcaggctgg agaacttaaa tgggggacag atgaagaaaa gtttatcacc
      781 atctttggaa cacgaagtgt gtctcatttg agaaaggtgt ttgacaagta catgactata
      841 tcaggatttc aaattgagga aaccattgac cgcgagactt ctggcaattt agagcaacta
      901 ctccttgctg ttgtgaaatc tattcgaagt atacctgcct accttgcaga gaccctctat
      961 tatgctatga agggagctgg gacagatgat cataccctca tcagagtcat ggtttccagg
     1021 agtgagattg atctgtttaa catcaggaag gagtttagga agaattttgc cacctctctt
     1081 tattccatga ttaagggaga tacatctggg gactataaga aagctcttct gctgctctgt
     1141 ggagaagatg actaacgtgt cacggggaag agctccctgc tgtgtgcctg caccacccca
     1201 ctgccttcct tcagcacctt tagctgcatt tgtatgccag tgcttaacac attgccttat
     1261 tcatactagc atgctcatga ccaacacata cacgtcatag aagaaaatag tggtgcttct
     1321 ttctgatctc tagtggagat ctctttgact gctgtagtac taaagtgtac ttaatgttac
     1381 taagtttaat gcctggccat tttccattta tatatatttt ttaagaggct agagtgcttt
     1441 tagccttttt taaaaactcc atttatatta catttgtaac catgatactt taattagaag
     1501 cttagccttg aaattgtgaa ctcttggaaa tgttattagt gaagttcgca actaaactaa
     1561 acctgtaaaa ttatgatgat tgtattcaaa agattaatga aaaataaaca tttctgtccc
     1621 cctgaattat
//



Revised: July 5, 2002.
 
 


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1: NM_003505. Homo sapiens friz...[gi:4503824] Links  


LOCUS       FZD1                    4350 bp    mRNA    linear   PRI 20-DEC-2001
DEFINITION  Homo sapiens frizzled homolog 1 (Drosophila) (FZD1), mRNA.
ACCESSION   NM_003505
VERSION     NM_003505.1  GI:4503824
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (sites)
  AUTHORS   Sagara,N., Toda,G., Hirai,M., Terada,M. and Katoh,M.
  TITLE     Molecular cloning, differential expression, and chromosomal
            localization of human frizzled-1, frizzled-2, and frizzled-7
  JOURNAL   Biochem. Biophys. Res. Commun. 252 (1), 117-122 (1998)
  MEDLINE   99032814
   PUBMED   9813155
REFERENCE   2  (bases 1 to 4350)
  AUTHORS   Gazit,A., Yaniv,A., Bafico,A., Pramila,T., Igarashi,M.,
            Kitajewski,J. and Aaronson,S.A.
  TITLE     Human frizzled 1 interacts with transforming Wnts to transduce a
            TCF dependent transcriptional response
  JOURNAL   Oncogene 18 (44), 5959-5966 (1999)
  MEDLINE   20027383
   PUBMED   10557084
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB017363.1.
            Summary:  Members of the 'frizzled' gene family encode
            7-transmembrane domain proteins that are receptors for Wnt
            signaling proteins.  The FZD1 protein contains a signal peptide, a
            cysteine-rich domain in the N-terminal extracellular region, 7
            transmembrane domains, and a C-terminal PDZ domain-binding motif.
            The FZD1 transcript is expressed in various tissues.
FEATURES             Location/Qualifiers
     source          1..4350
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21"
     gene            1..4350
                     /gene="FZD1"
                     /db_xref="LocusID:8321"
                     /db_xref="MIM:603408"
     variation       61
                     /gene="FZD1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2232155"
     variation       189
                     /gene="FZD1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2232156"
     variation       complement(190)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3750148"
     variation       190
                     /gene="FZD1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:2232157"
     variation       320
                     /gene="FZD1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2232158"
     variation       complement(320)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3750147"
     variation       363
                     /gene="FZD1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2232159"
     CDS             414..2357
                     /gene="FZD1"
                     /note="frizzled (Drosophila) homolog 1; Frizzled,
                     drosophila, homolog of, 1; Wnt receptor"
                     /codon_start=1
                     /product="frizzled 1"
                     /protein_id="NP_003496.1"
                     /db_xref="GI:4503825"
                     /db_xref="LocusID:8321"
                     /db_xref="MIM:603408"
                     /translation="MAEEEAPKKSRAAGGGASWELCAGALSARLAEEGSGDAGGRRRP
                     PVDPRRLARQLLLLLWLLEAPLLLGVRAQAAGQGPGQGPGPGQQPPPPPQQQQSGQQY
                     NGERGISVPDHGYCQPISIPLCTDIAYNQTIMPNLLGHTNQEDAGLEVHQFYPLVKVQ
                     CSAELKFFLCSMYAPVCTVLEQALPPCRSLCERARQGCEALMNKFGFQWPDTLKCEKF
                     PVHGAGELCVGQNTSDKGTPTPSLLPEFWTSNPQHGGGGHRGGFPGGAGASERGKFSC
                     PRALKVPSYLNYHFLGEKDCGAPCEPTKVYGLMYFGPEELRFSRTWIGIWSVLCCAST
                     LFTVLTYLVDMRRFSYPERPIIFLSGCYTAVAVAYIAGFLLEDRVVCNDKFAEDGART
                     VAQGTKKEGCTILFMMLYFFSMASSIWWVILSLTWFLAAGMKWGHEAIEANSQYFHLA
                     AWAVPAIKTITILALGQVDGDVLSGVCFVGLNNVDALRGFVLAPLFVYLFIGTSFLLA
                     GFVSLFRIRTIMKHDGTKTEKLEKLMVRIGVFSVLYTVPATIVIACYFYEQAFRDQWE
                     RSWVAQSCKSYAIPCPHLQAGGGAPPHPPMSPDFTVFMIKYLMTLIVGITSGFWIWSG
                     KTLNSWRKFYTRLTNSKQGETTV"
     misc_feature    729..1097
                     /gene="FZD1"
                     /note="Fz; Region: Fz domain. Also known as the CRD
                     (cysteine rich domain)"
                     /db_xref="CDD:pfam01392"
     misc_feature    759..1106
                     /gene="FZD1"
                     /note="FRI; Region: Frizzled"
                     /db_xref="CDD:smart00063"
     misc_feature    1338..2333
                     /gene="FZD1"
                     /note="Frizzled; Region: Frizzled/Smoothened family
                     membrane region. This family contains the membrane
                     spanning region of frizzled and smoothened receptors. This
                     membrane region is predicted to contain seven
                     transmembrane alpha helices. Proteins related to
                     drosophila frizzled are receptors for the Wnt signaling
                     molecules. The smoothened receptor mediates hedgehog
                     signaling"
                     /db_xref="CDD:pfam01534"
     variation       1067
                     /gene="FZD1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2232160"
     variation       complement(1440)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3750146"
     variation       2162
                     /gene="FZD1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2232161"
     variation       2423
                     /gene="FZD1"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:2232162"
     variation       2453
                     /gene="FZD1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2232163"
     variation       complement(3049)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3750145"
     variation       3949
                     /gene="FZD1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1052015"
BASE COUNT      917 a   1218 c   1236 g    979 t
ORIGIN      
        1 agttgaggga ttgacacaaa tggtcaggcg gcggcggcgg agaaggaggc ggaggcgcag
       61 gggggagccg agcccgctgg gctgcggaga gttgcgctct ctacggggcc gcggccacta
      121 gcgcggcgcc gccagccggg agccagcgag ccgagggcca ggaaggcggg acacgacccc
      181 ggcgcgccct agccacccgg gttctccccg ccgcccgcgc ttcatgaatc gcaagtttcc
      241 gcggcggcgg cggctgcggt acgcagaaca ggagccgggg gagcgggccg aaagcggctt
      301 gggctcgacg gagggcaccc gcgcagaggt ctccctggcc gcagggggag ccgccgccgg
      361 ccgtgcccct ggcagcccca gcggagcggc gccaagagag gagccgagaa agtatggctg
      421 aggaggaggc gcctaagaag tcccgggccg ccggcggtgg cgcgagctgg gaactttgtg
      481 ccggggcgct ctcggcccgg ctggcggagg agggcagcgg ggacgccggt ggccgccgcc
      541 gcccgccagt tgacccccgg cgattggcgc gccagctgct gctgctgctt tggctgctgg
      601 aggctccgct gctgctgggg gtccgggccc aggcggcggg ccaggggcca ggccaggggc
      661 ccgggccggg gcagcaaccg ccgccgccgc ctcagcagca acagagcggg cagcagtaca
      721 acggcgagcg gggcatctcc gtcccggacc acggctattg ccagcccatc tccatcccgc
      781 tgtgcacgga catcgcgtac aaccagacca tcatgcccaa cctgctgggc cacacgaacc
      841 aggaggacgc gggcctggag gtgcaccagt tctaccctct agtgaaagtg cagtgttccg
      901 ctgagctcaa gttcttcctg tgctccatgt acgcgcccgt gtgcaccgtg ctagagcagg
      961 cgctgccgcc ctgccgctcc ctgtgcgagc gcgcgcgcca gggctgcgag gcgctcatga
     1021 acaagttcgg cttccagtgg ccagacacgc tcaagtgtga gaagttcccg gtgcacggcg
     1081 ccggcgagct gtgcgtgggc cagaacacgt ccgacaaggg caccccgacg ccctcgctgc
     1141 ttccagagtt ctggaccagc aaccctcagc acggcggcgg agggcaccgt ggcggcttcc
     1201 cggggggcgc cggcgcgtcg gagcgaggca agttctcctg cccgcgcgcc ctcaaggtgc
     1261 cctcctacct caactaccac ttcctggggg agaaggactg cggcgcacct tgtgagccga
     1321 ccaaggtgta tgggctcatg tacttcgggc ccgaggagct gcgcttctcg cgcacctgga
     1381 ttggcatttg gtcagtgctg tgctgcgcct ccacgctctt cacggtgctt acgtacctgg
     1441 tggacatgcg gcgcttcagc tacccggagc ggcccatcat cttcttgtcc ggctgttaca
     1501 cggccgtggc cgtggcctac atcgccggct tcctcctgga agaccgagtg gtgtgtaatg
     1561 acaagttcgc cgaggacggg gcacgcactg tggcgcaggg caccaagaag gagggctgca
     1621 ccatcctctt catgatgctc tacttcttca gcatggccag ctccatctgg tgggtgatcc
     1681 tgtcgctcac ctggttcctg gcggctggca tgaagtgggg ccacgaggcc atcgaagcca
     1741 actcacagta ttttcacctg gccgcctggg ctgtgccggc catcaagacc atcaccatcc
     1801 tggcgctggg ccaggtggac ggcgatgtgc tgagcggagt gtgcttcgtg gggcttaaca
     1861 acgtggacgc gctgcgtggc ttcgtgctgg cgcccctctt cgtgtacctg tttatcggca
     1921 cgtcctttct gctggccggc tttgtgtcgc tcttccgcat ccgcaccatc atgaagcacg
     1981 atggcaccaa gaccgagaag ctggagaagc tcatggtgcg cattggcgtc ttcagcgtgc
     2041 tgtacactgt gccagccacc atcgtcatcg cctgctactt ctacgagcag gccttccggg
     2101 accagtggga acgcagctgg gtggcccaga gctgcaagag ctacgctatc ccctgccctc
     2161 acctccaggc gggcggaggc gccccgccgc acccgcccat gagcccggac ttcacggtct
     2221 tcatgattaa gtaccttatg acgctgatcg tgggcatcac gtcgggcttc tggatctggt
     2281 ccggcaagac cctcaactcc tggaggaagt tctacacgag gctcaccaac agcaaacaag
     2341 gggagactac agtctgagac ccggggctca gcccatgccc aggcctcggc cggggcgcag
     2401 cgatccccca aagccagcgc cgtggagttc gtgccaatcc tgacatctcg aggtttcctc
     2461 actagacaac tctctttcgc aggctccttt gaacaactca gctcctgcaa aagcttccgt
     2521 ccctgaggca aaaggacacg agggcccgac tgccagaggg aggatggaca gacctcttgc
     2581 cctcacactc tggtaccagg actgttcgct tttatgattg taaatagcct gtgtaagatt
     2641 tttgtaagta tatttgtatt taaatgacga ccgatcacgc gtttttcttt ttcaaaagtt
     2701 tttaattatt tagggcggtt taaccatttg aggcttttcc ttcttgccct tttcggagta
     2761 ttgcaaagga gctaaaactg gtgtgcaacc gcacagcgct cctggtcgtc ctcgcgcgcc
     2821 tctccctacc acgggtgctc gggacggctg ggcgccagct ccggggcgag ttcagcactg
     2881 cggggtgcga ctagggctgc gctgccaggg tcacttcccg cctcctcctt ttgccccctc
     2941 cccctccttc tgtcccctcc ctttctttcc tggcttgagg taggggctct taaggtacag
     3001 aactccacaa accttccaaa tctggaggag ggcccccata cattacaatt cctcccttgc
     3061 tcggcggtgg attgcgaagg cccgtccctt cgacttcctg aagctggatt tttaactgtc
     3121 cagaactttc ctccaacttc atgggggccc acgggtgtgg gcgctggcag tctcagcctc
     3181 cctccacggt caccttcaac gcccagacac tcccttctcc caccttagtt ggttacaggg
     3241 tgagtgagat aaccaatgcc aaactttttg aagtctaatt tttgaggggt gagctcattt
     3301 cattctctag tgtctaaaac ctggtatggg tttggccagc gtcatggaaa gatgtggtta
     3361 ctgagatttg ggaagaagca tgaagctttg tgtgggttgg aagagactga agatatgggt
     3421 tataaaatgt taattctaat tgcatacgga tgcctggcaa ccttgccttt gagaatgaga
     3481 cagcctgcgc ttagatttta ccggtctgta aaatggaaat gttgaggtca cctggaaagc
     3541 tttgttaagg agttgatgtt tgctttcctt aacaagacag caaaacgtaa acagaaattg
     3601 aaaacttgaa ggatatttca gtgtcatgga cttcctcaaa atgaagtgct attttcttat
     3661 ttttaatcaa ataactagac atatatcaga aactttaaaa tgtaaaagtt gtacactttc
     3721 aacattttat tacgattatt attcagcagc acattctgag gggggaacaa ttcacaccac
     3781 caataataac ctggtaagat ttcaggaggt aaagaaggtg gaataattga cggggagata
     3841 gcgcctgaaa taaacaaaat atgggcatgc atgctaaagg gaaaatgtgt gcaggtctac
     3901 tgcattaaat cctgtgtgct cctcttttgg atttacagaa atgtgtcaaa tgtaaatctt
     3961 tcaaagccat ttaaaaatat tcactttagt tctctgtgaa gaagaggaga aaagcaatcc
     4021 tcctgattgt attgttttaa actttaagaa tttatcaaaa tgccggtact taggacctaa
     4081 atttatctat gtctgtcata cgctaaaatg atattggtct ttgaatttgg tatacattta
     4141 ttctgttcac tatcacaaaa tcatctatat ttatagagga atagaagttt atatatatat
     4201 aataccatat ttttaatttc acaaataaaa aattcaaagt tttgtacaaa attatatgga
     4261 ttttgtgcct gaaaataata gagcttgagc tgtctgaact attttacatt ttatggtgtc
     4321 tcatagccaa tcccacagtg taaaaattca
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_006117. Homo sapiens pero...[gi:5174624] Links  


LOCUS       PECI                    1348 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens peroxisomal D3,D2-enoyl-CoA isomerase (PECI), mRNA.
ACCESSION   NM_006117
VERSION     NM_006117.1  GI:5174624
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1348)
  AUTHORS   Geisbrecht,B.V., Zhang,D., Schulz,H. and Gould,S.J.
  TITLE     Characterization of PECI, a Novel Monofunctional D3,D2-Enoyl-CoA
            Isomerase of Mammalian Peroxisomes
  JOURNAL   J. Biol. Chem. (1999) In press
REFERENCE   2  (bases 1 to 1348)
  AUTHORS   Suk,K., Kim,Y.H., Hwang,D.Y., Ihm,S.H., Yoo,H.J. and Lee,M.S.
  TITLE     Molecular cloning and expression of a novel human cDNA related to
            the diazepam binding inhibitor
  JOURNAL   Biochim. Biophys. Acta 1454 (1), 126-131 (1999)
  MEDLINE   99284489
   PUBMED   10354522
REFERENCE   3  (bases 1 to 1348)
  AUTHORS   Geisbrecht,B.V., Zhang,D., Schulz,H. and Gould,S.J.
  TITLE     Characterization of PECI, a novel monofunctional Delta(3),
            Delta(2)-enoyl-CoA isomerase of mammalian peroxisomes
  JOURNAL   J. Biol. Chem. 274 (31), 21797-21803 (1999)
  MEDLINE   99348312
   PUBMED   10419495
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF153612.1.
FEATURES             Location/Qualifiers
     source          1..1348
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p24.3"
     gene            1..1348
                     /gene="PECI"
                     /db_xref="LocusID:10455"
     CDS             103..1182
                     /gene="PECI"
                     /function="catalyzes the isomerization of peroxisomal
                     3-cis- and 2-trans-enoyl-CoAs"
                     /codon_start=1
                     /product="peroxisomal D3,D2-enoyl-CoA isomerase"
                     /protein_id="NP_006108.1"
                     /db_xref="GI:5174625"
                     /db_xref="LocusID:10455"
                     /translation="MRASQKDFENSMNQVKLLKKDPGNEVKLKLYALYKQATEGPCNM
                     PKPGVFDLINKAKWDAWNALGSLPKEAARQNYVDLVSSLSPSLESSSQVEPGTDRKST
                     GFETLVVTSEDGITKIMFNRPKKKNAINTEMYHEIMRALKAASKDDSIITVLTGNGDY
                     YSSGNDLTNFTDIPPGGVEEKAKNNAVLLREFVGCFIDFPKPLIAVVNGPAVGISVTL
                     LGLFDAVYASDRATFHTPFSHLGQSPEGCSSYTFPKIMSPAKATEMLIFGKKLTAGEA
                     CAQGLVTEVFPDSTFQKEVWTRLKAFAKLPPNALRISKEVIRKREREKLHAVNAEECN
                     VLQGRWLSDECTNAVVNFLSRKSKL"
     misc_feature    112..339
                     /gene="PECI"
                     /note="Region: pfam00887, ACBP, Acyl CoA binding protein"
     misc_feature    451..963
                     /gene="PECI"
                     /note="Region: pfam00378, ECH, Enoyl-CoA
                     hydratase/isomerase family. This family contains a diverse
                     set of enzymes including: Enoyl-CoA hydratase. Napthoate
                     synthase. Carnitate racemase. 3-hydoxybutyryl-CoA
                     dehydratase. Dodecanoyl-CoA delta-isomerase"
     variation       138
                     /gene="PECI"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3177253"
     variation       690
                     /gene="PECI"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1802393"
     variation       810
                     /gene="PECI"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:10708"
     variation       810
                     /gene="PECI"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1801492"
     variation       921
                     /gene="PECI"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:12557"
     variation       1028
                     /gene="PECI"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3184842"
     variation       1028
                     /gene="PECI"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:7166"
     variation       1242
                     /gene="PECI"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:15100"
BASE COUNT      411 a    275 c    322 g    340 t
ORIGIN      
        1 caggtggcgt acttggcttg gagactggcg cggcgttcgt gtccgagttc tctgcaggtc
       61 actagtttcc cggtagttca gctgcacatg aatagaacag caatgagagc cagtcagaag
      121 gactttgaaa attcaatgaa tcaagtgaaa ctcttgaaaa aggatccagg aaacgaagtg
      181 aagctaaaac tctacgcgct atataagcag gccactgaag gaccttgtaa catgcccaaa
      241 ccaggtgtat ttgacttgat caacaaggcc aaatgggacg catggaatgc ccttggcagc
      301 ctgcccaagg aagctgccag gcagaactat gtggatttgg tgtccagttt gagtccttca
      361 ttggaatcct ctagtcaggt ggagcctgga acagacagga aatcaactgg gtttgaaact
      421 ctggtggtga cctccgaaga tggcatcaca aagatcatgt tcaaccggcc caaaaagaaa
      481 aatgccataa acactgagat gtatcatgaa attatgcgtg cacttaaagc tgccagcaag
      541 gatgactcaa tcatcactgt tttaacagga aatggtgact attacagtag tgggaatgat
      601 ctgactaact tcactgatat tccccctggt ggagtagagg agaaagctaa aaataatgcc
      661 gttttactga gggaatttgt gggctgtttt atagattttc ctaagcctct gattgcagtg
      721 gtcaatggtc cagctgtggg catctccgtc accctccttg ggctattcga tgccgtgtat
      781 gcatctgaca gggcaacatt tcatacacca tttagtcacc taggccaaag tccggaagga
      841 tgctcctctt acacttttcc gaagataatg agcccagcca aggcaacaga gatgcttatt
      901 tttggaaaga agttaacagc gggagaggca tgtgctcaag gacttgttac tgaagttttc
      961 cctgatagca cttttcagaa agaagtctgg accaggctga aggcatttgc aaagcttccc
     1021 ccaaatgcct tgagaatttc aaaagaggta atcaggaaaa gagagagaga aaaactacac
     1081 gctgttaatg ctgaagaatg caatgtcctt cagggaagat ggctatcaga tgaatgcaca
     1141 aatgctgtgg tgaacttctt atccagaaaa tcaaaactgt gatgaccact acagcagagt
     1201 aaagcatgtc caaggaagga tgtgctgtta cctctgattt ccagtactgg aactaaataa
     1261 gcttcattgt gccttttgta gtgctagaat atcaattaca atgatgatat ttcactacag
     1321 ctctgatgaa taaaaagttt tgtaaaac
//



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1: NM_012425. Homo sapiens Ras ...[gi:10800408] Links  


LOCUS       RSU1                    1436 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens Ras suppressor protein 1 (RSU1), mRNA.
ACCESSION   NM_012425
VERSION     NM_012425.2  GI:10800408
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1436)
  AUTHORS   Cutler,M.L., Bassin,R.H., Zanoni,L. and Talbot,N.
  TITLE     Isolation of rsp-1, a novel cDNA capable of suppressing v-Ras
            transformation
  JOURNAL   Mol. Cell. Biol. 12 (9), 3750-3756 (1992)
  MEDLINE   92375042
   PUBMED   1508180
REFERENCE   2  (bases 1 to 1436)
  AUTHORS   Tsuda,T. and Cutler,M.L.
  TITLE     Human RSU1 is highly homologous to mouse Rsu-1 and localizes to
            human chromosome 10
  JOURNAL   Genomics 18 (2), 461-462 (1993)
  MEDLINE   94117031
   PUBMED   8288261
REFERENCE   3  (bases 1 to 1436)
  AUTHORS   Tsuda,T. and Cutler,M.
  TITLE     Isolation of rsp-1, a novel cDNA capable of suppressing v-Ras
            transformant
  JOURNAL   Unpublished
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from L12535.1.
            On Oct 13, 2000 this sequence version replaced gi:6912637.
            Summary:  Studies in mouse and human cell lines suggest this gene
            is involved in the Ras signal transduction pathway, growth
            inhibition, and nerve-growth factor induced differentiation. The
            gene was initially isolated in mouse based on it's ability to
            inhibit v-Ras transformation.
FEATURES             Location/Qualifiers
     source          1..1436
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p12.31"
     gene            1..1436
                     /gene="RSU1"
                     /note="RSP-1"
                     /db_xref="LocusID:6251"
                     /db_xref="MIM:179555"
     variation       45
                     /gene="RSU1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1130684"
     variation       45
                     /gene="RSU1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3189821"
     CDS             70..903
                     /gene="RSU1"
                     /codon_start=1
                     /product="ras suppressor protein 1"
                     /protein_id="NP_036557.1"
                     /db_xref="GI:6912638"
                     /db_xref="LocusID:6251"
                     /db_xref="MIM:179555"
                     /translation="MSKSLKKLVEESREKNQPEVDMSDRGISNMLDVNGLFTLSHITQ
                     LVLSHNKLTMVPPNIAELKNLEVLNFFNNQIEELPTQISSLQKLKHLNLGMNRLNTLP
                     RGFGSLPALEVLDLTYNNLSENSLPGNFFYLTTLRALYLSDNDFEILPPDIGKLTKLQ
                     ILSLRDNDLISLPKEIGELTQLKELHIQGNRLTVLPPELGNLDLTGQKQVFKAENNPW
                     VTPIADQFQLGVSHVFEYIRSETYKYLYGRHMQANPEPPKKNNDKSKKISRKPLAAKN
                     R"
     variation       420
                     /gene="RSU1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1049632"
     variation       582
                     /gene="RSU1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3189826"
     variation       582
                     /gene="RSU1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:10445"
     variation       1196
                     /gene="RSU1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:6977"
     polyA_signal    1408..1413
                     /gene="RSU1"
     polyA_site      1436
                     /gene="RSU1"
BASE COUNT      399 a    361 c    284 g    392 t
ORIGIN      
        1 cagctggagt gcgttctgcc gaagcttgtg gttgcacgcc catcgtctta ggggctacct
       61 tccgtgacca tgtccaagtc tctgaagaag ttggtggagg agagccggga gaagaaccag
      121 cccgaggtgg acatgagtga ccggggcatc tccaacatgc tggatgtcaa cggcctcttt
      181 accttatccc atatcacaca actggtcctc agccataaca agctaacaat ggtgccaccg
      241 aacatcgcag aactgaagaa tttggaggtg ctcaactttt ttaataacca aatcgaggag
      301 ctgcccacac agatcagtag ccttcagaaa ctcaaacacc tgaaccttgg catgaacagg
      361 ctgaacactt tgccacgagg cttcggctcc ctgccagctc ttgaggttct ggacttgacg
      421 tacaacaact tgagcgaaaa ttctcttcct ggaaacttct tctacctgac caccctgcgt
      481 gcactctatc taagtgacaa cgattttgaa atcctgccgc cagatattgg gaagctcaca
      541 aagttgcaga tactcagcct tagggataac gacctgatct cgctgcctaa ggaaatcggg
      601 gagcttaccc agcttaaaga gctccacatt caggggaacc gcctcaccgt tctgccccca
      661 gaactaggaa acttggattt aactggccag aagcaggtat tcaaagcaga gaacaatccc
      721 tgggtgaccc ccattgcaga ccagttccag cttggcgtgt cccatgtttt tgagtatatc
      781 cgttctgaga catacaaata cctctacggc agacacatgc aggccaaccc agaaccaccg
      841 aagaagaata atgacaaatc gaaaaagatc agccggaaac ccctggcagc caagaacaga
      901 taaggaaggg attggcatcg gctggccttc cagcaccttc tctctccaac acttcattct
      961 ctcttgccct gtctctcaaa taaacccaat gctgcgtgtg aggccttttt tatttttctt
     1021 ttcactctct ttctaatgct tcccacctta ccttttagat tcttttgcta ggtgggagat
     1081 tgttataagg tctttaaacc atttccattt gtttctttaa cattaccaaa agcagggaac
     1141 aaagctctta ttcaactgcg aattccatag tgggctctgg cttttcttga atagatatca
     1201 caaggttgct tattatcaaa agaataatta aaatcatgta accatttaaa tgtcactgtt
     1261 aacacttttc actctttctg ttgattcacc taactcatta ttttgcttta ttaaaagtct
     1321 tccttcacca ccgagatatg ctaatttaac ttacaaatga ttttaataaa atcttgagtt
     1381 tgtatcacat gttacttatt gactcagaat aaaagaacag tctgatcttg gggtat
//



Revised: July 5, 2002.
 
 


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1: NM_012268. Homo sapiens like...[gi:7110640] Links  


LOCUS       PLD3                    2131 bp    mRNA    linear   PRI 09-OCT-2002
DEFINITION  Homo sapiens likely ortholog of mouse phospholipase D3 (PLD3),
            mRNA.
ACCESSION   NM_012268
VERSION     NM_012268.1  GI:7110640
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2131)
  AUTHORS   Cao,J.X., Koop,B.F. and Upton,C.
  TITLE     A human homolog of the vaccinia virus HindIII K4L gene is a member
            of the phospholipase D superfamily
  JOURNAL   Virus Res. 48 (1), 11-18 (1997)
  MEDLINE   97284916
   PUBMED   9140189
REFERENCE   2  (bases 1 to 2131)
  AUTHORS   Pedersen,K.M., Finsen,B., Celis,J.E. and Jensen,N.A.
  TITLE     Expression of a novel murine phospholipase D homolog coincides with
            late neuronal development in the forebrain
  JOURNAL   J. Biol. Chem. 273 (47), 31494-31504 (1998)
  MEDLINE   99030428
   PUBMED   9813063
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from U60644.1.
FEATURES             Location/Qualifiers
     source          1..2131
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
                     /clone="I.M.A.G.E Consortium Clone ID 159455"
                     /sex="female"
                     /tissue_type="breast"
                     /dev_stage="adult"
     gene            1..2131
                     /gene="PLD3"
                     /note="HU-K4"
                     /db_xref="LocusID:23646"
     CDS             488..1801
                     /gene="PLD3"
                     /note="similar to Vaccinia virus HindIII K4L ORF, and to
                     Vaccinia virus p37 (HindIII F13L ORF)"
                     /codon_start=1
                     /product="similar to vaccinia virus HindIII K4L ORF"
                     /protein_id="NP_036400.1"
                     /db_xref="GI:7110641"
                     /db_xref="LocusID:23646"
                     /translation="MTQLFLWEYGDLHLFGPNQRPAPCYDPCEAVLVESIPEGLDFPN
                     ASTGNPSTSQAWLGLLAGAHSSLDIASFYWTLTNNDTHTQEPSAQQGEEVLRQLQTLA
                     PKGVNVRIAVSKPSGPQPQADLQALLQSGAQVRMVDMQKLTHGVLHTKFWVVDQTHFY
                     LGSANMDWRSLTQVKELGVVMYNCSCLARDLTKIFEAYWFLGQAGSSIPSTWPRFYDT
                     RYNQETPMEICLNGTPALAYLASAPPPLCPSGRTPDLKALLNVVDNARSFIYVAVMNY
                     LPTLEFSHPHRFWPAIDDGLRRATYERGVKVRLLISCWGHSEPSMRAFLLSLAALRDN
                     HTHSDIQVKLFVVPADEAQARIPYARVNHNKYMVTERATYIGTSNWSGNYFTETAGTS
                     LLVTQNGRGGLRSQLEAIFLRDWDSPYIHDLDTSADSVGNACRLL"
     misc_feature    920..997
                     /gene="PLD3"
                     /note="PLDc; Region: Phospholipase D. Active site motif.
                     Phosphatidylcholine-hydrolyzing phospholipase D (PLD)
                     isoforms are activated by ADP-ribosylation factors (ARFs).
                     PLD produces phosphatidic acid from phosphatidylcholine,
                     which may be essential for the formation of certain types
                     of transport vesicles or may be constitutive vesicular
                     transport to signal transduction pathways. PC-hydrolyzing
                     PLD is a homologue of cardiolipin synthase,
                     phosphatidylserine synthase, bacterial PLDs, and viral
                     proteins. Each of these appears to possess a domain
                     duplication which is apparent by the presence of two
                     motifs containing well-conserved histidine, lysine, and/or
                     asparagine residues which may contribute to the active
                     site. aspartic acid. An E. coli endonuclease (nuc) and
                     similar proteins appear to be PLD homologues but possess
                     only one of these motifs. The profile contained here
                     represents only the putative active site regions, since an
                     accurate multiple alignment of the repeat units has not
                     been achieved"
                     /db_xref="CDD:pfam00614"
     misc_feature    920..997
                     /gene="PLD3"
                     /note="PLDc; Region: Phospholipase D. Active site motifs"
                     /db_xref="CDD:smart00155"
     variation       1457
                     /gene="PLD3"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1804651"
     variation       1654
                     /gene="PLD3"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:4819"
     variation       1656
                     /gene="PLD3"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1804652"
     variation       1857
                     /gene="PLD3"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1049538"
     variation       1873
                     /gene="PLD3"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:7368"
     variation       1881
                     /gene="PLD3"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:4635"
     variation       2015
                     /gene="PLD3"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1049680"
     variation       2050
                     /gene="PLD3"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1049717"
     variation       2056
                     /gene="PLD3"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1049718"
BASE COUNT      426 a    710 c    598 g    397 t
ORIGIN      
        1 ctctttataa tttagtttcc atagaagtta tatgtgcatt taaaaaaatt caatgctgga
       61 gcgaccgtgt ctggggagcc gagccccgct tctcgctgcg gtgagcccgg actggggcac
      121 gcactgcgca gactccccgc tgcagtgggc ggagtcccac aggccccgcc cctcctccca
      181 ccctcgttca gcctgtccag acagaagctg gggcccagcg gaggtagcag cagacgcctg
      241 agagcgaggc cgaggccctc agggtttgga gaccctgaca cacccacctt ctcacctggg
      301 ctctgcgtat cccccagcct tgagggaaga tgaagcctaa actgatgtac caggagctga
      361 aggtgcctgc agaggagccc gccaatgagc tgcccatgaa tgagattgag gcgtggaagg
      421 ctgcggaaaa gaaagcccgc tgggtcctgc tggtcctcat tctggcggtt gtgggcttcg
      481 gagcctgatg actcagctgt ttctatggga atacggcgac ttgcatctct ttgggcccaa
      541 ccagcgccca gccccctgct atgacccttg cgaagcagtg ctggtggaaa gcattcctga
      601 gggcctggac ttccccaatg cctccacggg gaacccttcc accagccagg cctggctggg
      661 cctgctcgcc ggtgcgcaca gcagcctgga catcgcctcc ttctactgga ccctcaccaa
      721 caatgacacc cacacgcagg agccctctgc ccagcagggt gaggaggtcc tccggcagct
      781 gcagaccctg gcaccaaagg gcgtgaacgt ccgcatcgct gtgagcaagc ccagcgggcc
      841 ccagccacag gcggacctgc aggctctgct gcagagcggt gcccaggtcc gcatggtgga
      901 catgcagaag ctgacccatg gcgtcctgca taccaagttc tgggtggtgg accagaccca
      961 cttctacctg ggcagtgcca acatggactg gcgttcactg acccaggtca aggagctggg
     1021 cgtggtcatg tacaactgca gctgcctggc tcgagacctg accaagatct ttgaggccta
     1081 ctggttcctg ggccaggcag gcagctccat cccatcaact tggccccggt tctatgacac
     1141 ccgctacaac caagagacac caatggagat ctgcctcaat ggaacccctg ctctggccta
     1201 cctggcgagt gcgcccccac ccctgtgtcc aagtggccgc actccagacc tgaaggctct
     1261 actcaacgtg gtggacaatg cccggagttt catctacgtc gctgtcatga actacctgcc
     1321 cactctggag ttctcccacc ctcacaggtt ctggcctgcc attgacgatg ggctgcggcg
     1381 ggccacctac gagcgtggcg tcaaggtgcg cctgctcatc agctgctggg gacactcgga
     1441 gccatccatg cgggccttcc tgctctctct ggctgccctg cgtgacaacc atacccactc
     1501 tgacatccag gtgaaactct ttgtggtccc cgcggatgag gcccaggctc gaatcccata
     1561 tgcccgtgtc aaccacaaca agtacatggt gactgaacgc gccacctaca tcggaacctc
     1621 caactggtct ggcaactact tcacggagac ggcgggcacc tcgctgctgg tgacgcagaa
     1681 tgggaggggc ggcctgcgga gccagctgga ggccattttc ctgagggact gggactcccc
     1741 ttacattcat gaccttgaca cctcagctga cagcgtgggc aacgcctgcc gcctgctctg
     1801 aggcccgatc cagtgggcag gccaaggcct gctgggcccc cgcggaccca ggtgctctgg
     1861 gtcacggtcc ctgtccccgc acccccgctt ctgtctgccc cattgtggct cctcaggctc
     1921 tctcccctgc tctcccacct ctacctccac ccccaccggc ctgacgctgt ggccccggga
     1981 cccagcagag ctgggggagg gatcagcccc caaagaaatg ggggtgcatg ctggcctgcc
     2041 ccctggccca cccccacttt ccagggcaaa aagggcccag ggttataata agtaaataac
     2101 ttgtctgtaa aaaaaaaaaa aaaaaaaaaa a
//



Revised: July 5, 2002.
 
 


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1: NM_001219. Homo sapiens calu...[gi:6005991] Links  


LOCUS       CALU                    3320 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens calumenin (CALU), mRNA.
ACCESSION   NM_001219
VERSION     NM_001219.2  GI:6005991
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3320)
  AUTHORS   Yabe,D., Taniwaki,M., Nakamura,T., Kanazawa,N., Tashiro,K. and
            Honjo,T.
  TITLE     Human calumenin gene (CALU): cDNA isolation and chromosomal mapping
            to 7q32
  JOURNAL   Genomics 49 (2), 331-333 (1998)
  MEDLINE   98260687
   PUBMED   9598325
REFERENCE   2  (bases 1 to 3320)
  AUTHORS   Vorum,H., Liu,X., Madsen,P., Rasmussen,H.H. and Honore,B.
  TITLE     Molecular cloning of a cDNA encoding human calumenin, expression in
            Escherichia coli and analysis of its Ca2+-binding activity
  JOURNAL   Biochim. Biophys. Acta 1386 (1), 121-131 (1998)
  MEDLINE   98342150
   PUBMED   9675259
REFERENCE   3  (bases 1 to 3320)
  AUTHORS   Vorum,H., Hager,H., Christensen,B.M., Nielsen,S. and Honore,B.
  TITLE     Human calumenin localizes to the secretory pathway and is secreted
            to the medium
  JOURNAL   Exp. Cell Res. 248 (2), 473-481 (1999)
  MEDLINE   99240627
   PUBMED   10222138
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF013759.1 and U67280.1.
            On Oct 1, 1999 this sequence version replaced gi:4502550.
            Summary: Calumenin (CALU) is a  calcium-binding protein localized
            in the endoplasmic reticulum (ER) and is involved in such ER
            functions as protein folding and sorting. Calumenin is a member of
            the EF-hand superfamily in the ER and Golgi apparatus named CERC.
            CERC is an acronym for its family members Cab-45, reticulocalbin,
            Erc-55, and calumenin. The CALU gene encodes a deduced 315-amino
            acid protein containing 6 EF-hand motifs, 1 potential
            N-glycosylation site, and a C-terminal ER retention signal. The
            human and mouse CALU proteins are 98% identical. CALU mRNA is
            ubiquitously expressed in human tissues and maps to 7q32.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3320
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q32"
     gene            1..3320
                     /gene="CALU"
                     /db_xref="LocusID:813"
                     /db_xref="MIM:603420"
     CDS             63..1010
                     /gene="CALU"
                     /function="Ca2+-binding in the endoplasmic reticulum"
                     /note="member of one subset of EF-hand superfamily that
                     includes reticulocalbin, Erc-55, and Cab-45"
                     /codon_start=1
                     /product="calumenin precursor"
                     /protein_id="NP_001210.1"
                     /db_xref="GI:4502551"
                     /db_xref="LocusID:813"
                     /db_xref="MIM:603420"
                     /translation="MDLRQFLMCLSLCTAFALSKPTEKKDRVHHEPQLSDKVHNDAQS
                     FDYDHDAFLGAEEAKTFDQLTPEESKERLGKIVSKIDGDKDGFVTVDELKDWIKFAQK
                     RWIYEDVERQWKGHDLNEDGLVSWEEYKNATYGYVLDDPDPDDGFNYKQMMVRDERRF
                     KMADKDGDLIATKEEFTAFLHPEEYDYMKDIVVQETMEDIDKNADGFIDLEEYIGDMY
                     SHDGNTDEPEWVKTEREQFVEFRDKNRDGKMDKEETKDWILPSDYDHAEAEARHLVYE
                     SDQNKDGKLTKEEIVDKYDLFVGSQATDFGEALVRHDEF"
     sig_peptide     63..119
                     /gene="CALU"
     misc_feature    303..338
                     /gene="CALU"
                     /note="Region: EF-hand motif I"
     mat_peptide     408..1007
                     /gene="CALU"
                     /product="calumenin"
     misc_feature    411..446
                     /gene="CALU"
                     /note="Region: EF-hand motif II"
     misc_feature    525..554
                     /gene="CALU"
                     /note="Region: EF-hand motif III"
     misc_feature    660..698
                     /gene="CALU"
                     /note="Region: EF-hand motif IV"
     misc_feature    786..821
                     /gene="CALU"
                     /note="Region: EF-hand motif V"
     misc_feature    864..929
                     /gene="CALU"
                     /note="Region: EF-hand motif VI"
     misc_feature    926..1007
                     /gene="CALU"
                     /note="encodes C-terminal ER retention signal"
     variation       1014
                     /gene="CALU"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1043550"
     variation       1369
                     /gene="CALU"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:11653"
     variation       complement(1369)
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3807311"
     variation       1427
                     /gene="CALU"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1801995"
     variation       1477
                     /gene="CALU"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1801994"
     variation       1801
                     /gene="CALU"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1043595"
     variation       complement(1801)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3807310"
     variation       complement(1860)
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:339042"
     variation       2111
                     /gene="CALU"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:12984"
     variation       2121
                     /gene="CALU"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1801993"
     variation       2157
                     /gene="CALU"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1801996"
     variation       2403
                     /gene="CALU"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:8899"
     variation       3132
                     /gene="CALU"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3211119"
     variation       3210
                     /gene="CALU"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:8597"
     variation       3265
                     /gene="CALU"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1044203"
     variation       3294
                     /gene="CALU"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1127690"
     variation       3294
                     /gene="CALU"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3183909"
     polyA_signal    3297..3302
                     /gene="CALU"
     polyA_site      3315
                     /gene="CALU"
BASE COUNT      969 a    656 c    721 g    974 t
ORIGIN      
        1 gtgggtgagc ggcggccacg gcatcctgtg ctgtgggggc tacgaggaaa gatctaatta
       61 tcatggacct gcgacagttt cttatgtgcc tgtccctgtg cacagccttt gccttgagca
      121 aacccacaga aaagaaggac cgtgtacatc atgagcctca gctcagtgac aaggttcaca
      181 atgatgctca gagttttgat tatgaccatg atgccttctt gggtgctgaa gaagcaaaga
      241 cctttgatca gctgacacca gaagagagca aggaaaggct tggaaagatt gtaagtaaaa
      301 tagatggcga caaggacggg tttgtcactg tggatgagct caaagactgg attaaatttg
      361 cacaaaagcg ctggatttac gaggatgtag agcgacagtg gaaggggcat gacctcaatg
      421 aggacggcct cgtttcctgg gaggagtata aaaatgccac ctacggctac gttttagatg
      481 atccagatcc tgatgatgga tttaactata aacagatgat ggttagagat gagcggaggt
      541 ttaaaatggc agacaaggat ggagacctca ttgccaccaa ggaggagttc acagctttcc
      601 tgcaccctga ggagtatgac tacatgaaag atatagtagt acaggaaaca atggaagata
      661 tagataagaa tgctgatggt ttcattgatc tagaagagta tattggtgac atgtacagcc
      721 atgatgggaa tactgatgag ccagaatggg taaagacaga gcgagagcag tttgttgagt
      781 ttcgggataa gaaccgtgat gggaagatgg acaaggaaga gaccaaagac tggatccttc
      841 cctcagacta tgatcatgca gaggcagaag ccaggcacct ggtctatgaa tcagaccaaa
      901 acaaggatgg caagcttacc aaggaggaga tcgttgacaa gtatgactta tttgttggca
      961 gccaggccac agattttggg gaggccttag tacggcatga tgagttctga gctgcggagg
     1021 aaccctcatt tcctcaaaag taatttattt ttacagcttc tggtttcaca tgaaattgtt
     1081 tgcgctactg agactgttac tacaaacttt ttaagacatg aaaaggcgta atgaaaacca
     1141 tcccgtcccc attcctcctc ctctctgagg gactggaggg aagccgtgct tctgaggaac
     1201 aactctaatt agtacacttg tgtttgtaga tttacacttt gtattatgta ttaacatggc
     1261 gtgtttattt ttgtattttt ctctggttgg gagtatgata tgaaggatca agatcctcca
     1321 ctcacacatg tagacaaaca ttagctcttt actctttctc aaccccttat atgattttaa
     1381 taattctcac ttcactaatt ttgtaagcct gagatcaata agaaatgttc aggagagagg
     1441 aaagaaaaaa tatatatgct ccacaattta tatttagaga gagaacactt agtcttgcct
     1501 gtcaaaaagt ccaacatttc ataggtagta ggggccacat attacattca gttgctatag
     1561 gtccagcaac tgaacctgcc attacctggg caaggaaaga tccctttgct ctaggaaagc
     1621 ttggcccaaa ttgattttct tctttttccc cctgtaggac tgactgttgg ctaattttgt
     1681 caagcacagc tgtggtggga agagttaggg ccagtgtctt gaaaatcaat caagtagtga
     1741 atgtgatctc tttgcagagc tatagataga aacagctgga aaactaaagg aaaaatacaa
     1801 atgttttcgg ggcatacatt ttttttctgg gtgtgcatct gttgaaatgc tcaagactta
     1861 attatttgcc ttttgaaatc actgtaaatg cccccatccg gttcctcttc ttcccaggtg
     1921 tgccaaggaa ttaatcttgg tttcactaca attaaaattc actcctttcc aatcatgtca
     1981 ttgaaagtgc ctttaacgaa agaaatggtc actgaatggg aattctctta agaaaccctg
     2041 agattaaaaa aagactattt ggataactta taggaaagcc tagaacctcc cagtagagtg
     2101 gggatttttt tcttcttccc tttctctttt ggacaatagt taaattagca gtattagtta
     2161 tgagtttggt tgcagtgttc ttatcttgtg ggctgatttc caaaaaccac atgctgctga
     2221 atttaccagg gatcctcata cctcacaatg caaaccactt actaccaggc ctttttctgt
     2281 gtccactgga gagcttgagc tcacactcaa agatcagagg acctacagag agggctcttt
     2341 ggtttgagga ccatggctta cctttcctgc ctttgaccca tcacacccca tttcctcctc
     2401 tttccctctc cccgctgcca aaaaaaaaaa aaaggaaacg tttatcatga atcaacaggg
     2461 tttcagtcct tatcaaagag agatgtggaa agagctaaag aaaccaccct ttgttcccaa
     2521 ctccacttta cccatatttt atgcaacaca aacactgtcc ttttgggtcc ctttcttaca
     2581 gatggacctc ttgagaagaa ttatcgtatt ccacgttttt agccctcagg ttaccaagat
     2641 aaatatatgt atatataacc tttattattg ctatatcttt gtggataata cattcaggtg
     2701 gtgctgggtg atttattata atctgaacct aggtatatcc tttggtcttc cacagtcatg
     2761 ttgaggtggg ctccctggta tggtaaaaag ccaggtataa tgtaacttca ccccagcctt
     2821 tgtactaagc tcttgatagt ggatatactc ttttaagttt agccccaata tagggtaatg
     2881 gaaatttcct gccctctggg ttccccattt ttactattaa gaagaccagt gataatttaa
     2941 taatgccacc aactctggct tagttaagtg agagtgtgaa ctgtgtggca agagagcctc
     3001 acacctcact aggtgcagag agcccaggcc ttatgttaaa atcatgcact tgaaaagcaa
     3061 accttaatct gcaaagacag cagcaagcat tatacggtca tcttgaatga tccctttgaa
     3121 attttttttt tgtttgtttg tttaaatcaa gcctgaggct ggtgaacagt agctacacac
     3181 ccatattgtg tgttctgtga atgctagctc tcttgaattt ggatattggt tattttttat
     3241 agagtgtaaa ccaagtttta tattctgcaa tgcgaacagg tacctatctg tttctaaata
     3301 aaactgttta cattcaaaaa
//



Revised: July 5, 2002.
 
 


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1: NM_000484. Homo sapiens amyl...[gi:4502166] Links  


LOCUS       APP                     3579 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens amyloid beta (A4) precursor protein (protease
            nexin-II, Alzheimer disease) (APP), mRNA.
ACCESSION   NM_000484
VERSION     NM_000484.1  GI:4502166
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3579)
  AUTHORS   Tanzi,R.E., Gusella,J.F., Watkins,P.C., Bruns,G.A., St
            George-Hyslop,P., Van Keuren,M.L., Patterson,D., Pagan,S.,
            Kurnit,D.M. and Neve,R.L.
  TITLE     Amyloid beta protein gene: cDNA, mRNA distribution, and genetic
            linkage near the Alzheimer locus
  JOURNAL   Science 235 (4791), 880-884 (1987)
  MEDLINE   87120329
   PUBMED   2949367
REFERENCE   2  (bases 1 to 3579)
  AUTHORS   Ponte,P., Gonzalez-DeWhitt,P., Schilling,J., Miller,J., Hsu,D.,
            Greenberg,B., Davis,K., Wallace,W., Lieberburg,I. and Fuller,F.
  TITLE     A new A4 amyloid mRNA contains a domain homologous to serine
            proteinase inhibitors
  JOURNAL   Nature 331 (6156), 525-527 (1988)
  MEDLINE   88122639
   PUBMED   2893289
REFERENCE   3  (bases 1 to 3579)
  AUTHORS   La Fauci,G., Lahiri,D.K., Salton,S.R. and Robakis,N.K.
  TITLE     Characterization of the 5'-end region and the first two exons of
            the beta-protein precursor gene
  JOURNAL   Biochem. Biophys. Res. Commun. 159 (1), 297-304 (1989)
  MEDLINE   89165870
   PUBMED   2538123
REFERENCE   4  (bases 1 to 3579)
  AUTHORS   de Sauvage,F. and Octave,J.N.
  TITLE     A novel mRNA of the A4 amyloid precursor gene coding for a possibly
            secreted protein
  JOURNAL   Science 245 (4918), 651-653 (1989)
  MEDLINE   89346754
   PUBMED   2569763
REFERENCE   5  (bases 1 to 3579)
  AUTHORS   Van Nostrand,W.E., Wagner,S.L., Suzuki,M., Choi,B.H., Farrow,J.S.,
            Geddes,J.W., Cotman,C.W. and Cunningham,D.D.
  TITLE     Protease nexin-II, a potent antichymotrypsin, shows identity to
            amyloid beta-protein precursor
  JOURNAL   Nature 341 (6242), 546-549 (1989)
  MEDLINE   90015171
   PUBMED   2507928
REFERENCE   6  (sites)
  AUTHORS   Yoshikai,S., Sasaki,H., Doh-ura,K., Furuya,H. and Sakaki,Y.
  TITLE     Genomic organization of the human amyloid beta-protein precursor
            gene
  JOURNAL   Gene 87 (2), 257-263 (1990)
  MEDLINE   90236318
   PUBMED   2110105
REFERENCE   7  (bases 1 to 3579)
  AUTHORS   Schilling,J., Wang,Y., Lau,K., Smith,L. and Cordell,B.
  TITLE     Synthesis and characterization of the Kunitz protease-inhibitor
            domain of the beta-amyloid precursor protein
  JOURNAL   Gene 98 (2), 225-230 (1991)
  MEDLINE   91200669
   PUBMED   1707846
REFERENCE   8  (bases 1 to 3579)
  AUTHORS   Bakker,E., van Broeckhoven,C., Haan,J., Voorhoeve,E., van Hul,W.,
            Levy,E., Lieberburg,I., Carman,M.D., van Ommen,G.J., Frangione,B.
            et al.
  TITLE     DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis
            (Dutch type)
  JOURNAL   Am. J. Hum. Genet. 49 (3), 518-521 (1991)
  MEDLINE   91353566
   PUBMED   1679289
REFERENCE   9  (bases 1 to 3579)
  AUTHORS   Multhaup,G., Schlicksupp,A., Hesse,L., Beher,D., Ruppert,T.,
            Masters,C.L. and Beyreuther,K.
  TITLE     The amyloid precursor protein of Alzheimer's disease in the
            reduction of copper(II) to copper(I)
  JOURNAL   Science 271 (5254), 1406-1409 (1996)
  MEDLINE   96173947
   PUBMED   8596911
REFERENCE   10 (bases 1 to 3579)
  AUTHORS   Chow,N., Korenberg,J.R., Chen,X.N. and Neve,R.L.
  TITLE     APP-BP1, a novel protein that binds to the carboxyl-terminal region
            of the amyloid precursor protein
  JOURNAL   J. Biol. Chem. 271 (19), 11339-11346 (1996)
  MEDLINE   96212203
   PUBMED   8626687
REFERENCE   11 (bases 1 to 3579)
  AUTHORS   Hattori,M., Tsukahara,F., Furuhata,Y., Tanahashi,H., Hirose,M.,
            Saito,M., Tsukuni,S. and Sakaki,Y.
  TITLE     A novel method for making nested deletions and its application for
            sequencing of a 300 kb region of human APP locus
  JOURNAL   Nucleic Acids Res. 25 (9), 1802-1808 (1997)
  MEDLINE   97263807
   PUBMED   9108164
REFERENCE   12 (bases 1 to 3579)
  AUTHORS   Hattori,M., Fujiyama,A., Taylor,T.D., Watanabe,H., Yada,T.,
            Park,H.S., Toyoda,A., Ishii,K., Totoki,Y., Choi,D.K., Groner,Y.,
            Soeda,E., Ohki,M., Takagi,T., Sakaki,Y., Taudien,S.,
            Blechschmidt,K., Polley,A., Menzel,U., Delabar,J., Kumpf,K.,
            Lehmann,R., Patterson,D., Reichwald,K., Rump,A., Schillhabel,M.,
            Schudy,A., Zimmermann,W., Rosenthal,A., Kudoh,J., Schibuya,K.,
            Kawasaki,K., Asakawa,S., Shintani,A., Sasaki,T., Nagamine,K.,
            Mitsuyama,S., Antonarakis,S.E., Minoshima,S., Shimizu,N.,
            Nordsiek,G., Hornischer,K., Brant,P., Scharfe,M., Schon,O.,
            Desario,A., Reichelt,J., Kauer,G., Blocker,H., Ramser,J., Beck,A.,
            Klages,S., Hennig,S., Riesselmann,L., Dagand,E., Haaf,T.,
            Wehrmeyer,S., Borzym,K., Gardiner,K., Nizetic,D., Francis,F.,
            Lehrach,H., Reinhardt,R. and Yaspo,M.L.
  TITLE     The DNA sequence of human chromosome 21
  JOURNAL   Nature 405 (6784), 311-319 (2000)
  MEDLINE   20289799
   PUBMED   10830953
REFERENCE   13 (bases 1 to 3579)
  AUTHORS   Bruno,V., Copani,A., Besong,G., Scoto,G. and Nicoletti,F.
  TITLE     Neuroprotective activity of chemokines against N-methyl-D-aspartate
            or beta-amyloid-induced toxicity in culture
  JOURNAL   Eur. J. Pharmacol. 399 (2-3), 117-121 (2000)
  MEDLINE   20344774
   PUBMED   10884510
REFERENCE   14 (bases 1 to 3579)
  AUTHORS   Xia,W., Ray,W.J., Ostaszewski,B.L., Rahmati,T., Kimberly,W.T.,
            Wolfe,M.S., Zhang,J., Goate,A.M. and Selkoe,D.J.
  TITLE     Presenilin complexes with the C-terminal fragments of amyloid
            precursor protein at the sites of amyloid beta-protein generation
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 97 (16), 9299-9304 (2000)
  MEDLINE   20381377
   PUBMED   10922078
REFERENCE   15 (bases 1 to 3579)
  AUTHORS   Walter,J., Schindzielorz,A., Hartung,B. and Haass,C.
  TITLE     Phosphorylation of the beta-amyloid precursor protein at the cell
            surface by ectocasein kinases 1 and 2
  JOURNAL   J. Biol. Chem. 275 (31), 23523-23529 (2000)
  MEDLINE   20378979
   PUBMED   10806211
REFERENCE   16 (bases 1 to 3579)
  AUTHORS   Nakagawa,T. and Yuan,J.
  TITLE     Cross-talk between two cysteine protease families. Activation of
            caspase-12 by calpain in apoptosis
  JOURNAL   J. Cell Biol. 150 (4), 887-894 (2000)
  MEDLINE   20411230
   PUBMED   10953012
REFERENCE   17 (bases 1 to 3579)
  AUTHORS   Olson,J.M., Goddard,K.A. and Dudek,D.M.
  TITLE     The amyloid precursor protein locus and very-late-onset Alzheimer
            disease
  JOURNAL   Am. J. Hum. Genet. 69 (4), 895-899 (2001)
  MEDLINE   21426327
   PUBMED   11500807
REFERENCE   18 (bases 1 to 3579)
  AUTHORS   Kirkitadze,M.D., Condron,M.M. and Teplow,D.B.
  TITLE     Identification and characterization of key kinetic intermediates in
            amyloid beta-protein fibrillogenesis
  JOURNAL   J. Mol. Biol. 312 (5), 1103-1119 (2001)
  MEDLINE   21464908
   PUBMED   11580253
REFERENCE   19 (bases 1 to 3579)
  AUTHORS   Kale,L.C., Higgins,G.A., Yoshioka,K., Izumi,R., Oishi,N. and
            Sakaki,Y.
  JOURNAL   Unpublished (1992)
REFERENCE   20 (bases 1 to 3579)
  AUTHORS   Yoshioka,K., Izumi,R., Oishi,N. and Sakaki,Y.
  JOURNAL   Unpublished (1992)
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from M33112.1.
FEATURES             Location/Qualifiers
     source          1..3579
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q21.3"
     gene            1..3579
                     /gene="APP"
                     /note="AAA; AD1; CVAP; ABETA"
                     /db_xref="LocusID:351"
                     /db_xref="MIM:104760"
     CDS             148..2460
                     /gene="APP"
                     /note="Amyloid beta (A4) precursor protein; amyloid
                     beta-peptide"
                     /codon_start=1
                     /product="amyloid beta (A4) precursor protein (protease
                     nexin-II, Alzheimer disease)"
                     /protein_id="NP_000475.1"
                     /db_xref="GI:4502167"
                     /db_xref="LocusID:351"
                     /db_xref="MIM:104760"
                     /translation="MLPGLALLLLAAWTARALEVPTDGNAGLLAEPQIAMFCGRLNMH
                     MNVQNGKWDSDPSGTKTCIDTKEGILQYCQEVYPELQITNVVEANQPVTIQNWCKRGR
                     KQCKTHPHFVIPYRCLVGEFVSDALLVPDKCKFLHQERMDVCETHLHWHTVAKETCSE
                     KSTNLHDYGMLLPCGIDKFRGVEFVCCPLAEESDNVDSADAEEDDSDVWWGGADTDYA
                     DGSEDKVVEVAEEEEVAEVEEEEADDDEDDEDGDEVEEEAEEPYEEATERTTSIATTT
                     TTTTESVEEVVREVCSEQAETGPCRAMISRWYFDVTEGKCAPFFYGGCGGNRNNFDTE
                     EYCMAVCGSAMSQSLLKTTQEPLARDPVKLPTTAASTPDAVDKYLETPGDENEHAHFQ
                     KAKERLEAKHRERMSQVMREWEEAERQAKNLPKADKKAVIQHFQEKVESLEQEAANER
                     QQLVETHMARVEAMLNDRRRLALENYITALQAVPPRPRHVFNMLKKYVRAEQKDRQHT
                     LKHFEHVRMVDPKKAAQIRSQVMTHLRVIYERMNQSLSLLYNVPAVAEEIQDEVDELL
                     QKEQNYSDDVLANMISEPRISYGNDALMPSLTETKTTVELLPVNGEFSLDDLQPWHSF
                     GADSVPANTENEVEPVDARPAADRGLTTRPGSGLTNIKTEEISEVKMDAEFRHDSGYE
                     VHHQKLVFFAEDVGSNKGAIIGLMVGGVVIATVIVITLVMLKKKQYTSIHHGVVEVDA
                     AVTPEERHLSKMQQNGYENPTYKFFEQMQN"
     misc_feature    217..711
                     /gene="APP"
                     /note="Region: pfam02177, A4_EXTRA, Amyloid A4
                     extracellular domain"
     misc_feature    217..711
                     /gene="APP"
                     /note="Region: smart00006, A4_EXTRA, amyloid A4; amyloid
                     A4 precursor of Alzheimers disease"
     misc_feature    1018..1173
                     /gene="APP"
                     /note="Region: smart00131, KU, BPTI/Kunitz family of
                     serine protease inhibitors; Serine protease inhibitors.
                     One member of the family is encoded by an
                     alternatively-spliced form of Alzheimer's amyloid
                     beta-protein"
     misc_feature    1018..1170
                     /gene="APP"
                     /note="Region: pfam00014, Kunitz_BPTI, Kunitz/Bovine
                     pancreatic trypsin inhibitor domain. Indicative of a
                     protease inhibitor, usually a serine protease inhibitor.
                     Structure is a disulfide rich alpha+beta fold. BPTI
                     (bovine pancreatic trypsin inhibitor) is an extensively
                     studied model structure"
     misc_feature    2170..2262
                     /gene="APP"
                     /note="Region: pfam03494, Beta-APP, Beta-amyloid peptide
                     (beta-APP)"
     variation       3293
                     /gene="APP"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3200120"
     variation       3374
                     /gene="APP"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:736479"
     variation       3397
                     /gene="APP"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1059461"
     variation       3518
                     /gene="APP"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1059478"
BASE COUNT      975 a    804 c    932 g    868 t
ORIGIN      
        1 agtttcctcg gcagcggtag gcgagagcac gcggaggagc gtgcgcgggg gccccgggag
       61 acggcggcgg tggcggcgcg ggcagagcaa ggacgcggcg gatcccactc gcacagcagc
      121 gcactcggtg ccccgcgcag ggtcgcgatg ctgcccggtt tggcactgct cctgctggcc
      181 gcctggacgg ctcgggcgct ggaggtaccc actgatggta atgctggcct gctggctgaa
      241 ccccagattg ccatgttctg tggcagactg aacatgcaca tgaatgtcca gaatgggaag
      301 tgggattcag atccatcagg gaccaaaacc tgcattgata ccaaggaagg catcctgcag
      361 tattgccaag aagtctaccc tgaactgcag atcaccaatg tggtagaagc caaccaacca
      421 gtgaccatcc agaactggtg caagcggggc cgcaagcagt gcaagaccca tccccacttt
      481 gtgattccct accgctgctt agttggtgag tttgtaagtg atgcccttct cgttcctgac
      541 aagtgcaaat tcttacacca ggagaggatg gatgtttgcg aaactcatct tcactggcac
      601 accgtcgcca aagagacatg cagtgagaag agtaccaact tgcatgacta cggcatgttg
      661 ctgccctgcg gaattgacaa gttccgaggg gtagagtttg tgtgttgccc actggctgaa
      721 gaaagtgaca atgtggattc tgctgatgcg gaggaggatg actcggatgt ctggtggggc
      781 ggagcagaca cagactatgc agatgggagt gaagacaaag tagtagaagt agcagaggag
      841 gaagaagtgg ctgaggtgga agaagaagaa gccgatgatg acgaggacga tgaggatggt
      901 gatgaggtag aggaagaggc tgaggaaccc tacgaagaag ccacagagag aaccaccagc
      961 attgccacca ccaccaccac caccacagag tctgtggaag aggtggttcg agaggtgtgc
     1021 tctgaacaag ccgagacggg gccgtgccga gcaatgatct cccgctggta ctttgatgtg
     1081 actgaaggga agtgtgcccc attcttttac ggcggatgtg gcggcaaccg gaacaacttt
     1141 gacacagaag agtactgcat ggccgtgtgt ggcagcgcca tgtcccaaag tttactcaag
     1201 actacccagg aacctcttgc ccgagatcct gttaaacttc ctacaacagc agccagtacc
     1261 cctgatgccg ttgacaagta tctcgagaca cctggggatg agaatgaaca tgcccatttc
     1321 cagaaagcca aagagaggct tgaggccaag caccgagaga gaatgtccca ggtcatgaga
     1381 gaatgggaag aggcagaacg tcaagcaaag aacttgccta aagctgataa gaaggcagtt
     1441 atccagcatt tccaggagaa agtggaatct ttggaacagg aagcagccaa cgagagacag
     1501 cagctggtgg agacacacat ggccagagtg gaagccatgc tcaatgaccg ccgccgcctg
     1561 gccctggaga actacatcac cgctctgcag gctgttcctc ctcggcctcg tcacgtgttc
     1621 aatatgctaa agaagtatgt ccgcgcagaa cagaaggaca gacagcacac cctaaagcat
     1681 ttcgagcatg tgcgcatggt ggatcccaag aaagccgctc agatccggtc ccaggttatg
     1741 acacacctcc gtgtgattta tgagcgcatg aatcagtctc tctccctgct ctacaacgtg
     1801 cctgcagtgg ccgaggagat tcaggatgaa gttgatgagc tgcttcagaa agagcaaaac
     1861 tattcagatg acgtcttggc caacatgatt agtgaaccaa ggatcagtta cggaaacgat
     1921 gctctcatgc catctttgac cgaaacgaaa accaccgtgg agctccttcc cgtgaatgga
     1981 gagttcagcc tggacgatct ccagccgtgg cattcttttg gggctgactc tgtgccagcc
     2041 aacacagaaa acgaagttga gcctgttgat gcccgccctg ctgccgaccg aggactgacc
     2101 actcgaccag gttctgggtt gacaaatatc aagacggagg agatctctga agtgaagatg
     2161 gatgcagaat tccgacatga ctcaggatat gaagttcatc atcaaaaatt ggtgttcttt
     2221 gcagaagatg tgggttcaaa caaaggtgca atcattggac tcatggtggg cggtgttgtc
     2281 atagcgacag tgatcgtcat caccttggtg atgctgaaga agaaacagta cacatccatt
     2341 catcatggtg tggtggaggt tgacgccgct gtcaccccag aggagcgcca cctgtccaag
     2401 atgcagcaga acggctacga aaatccaacc tacaagttct ttgagcagat gcagaactag
     2461 acccccgcca cagcagcctc tgaagttgga cagcaaaacc attgcttcac tacccatcgg
     2521 tgtccattta tagaataatg tgggaagaaa caaacccgtt ttatgattta ctcattatcg
     2581 ccttttgaca gctgtgctgt aacacaagta gatgcctgaa cttgaattaa tccacacatc
     2641 agtaatgtat tctatctctc tttacatttt ggtctctata ctacattatt aatgggtttt
     2701 gtgtactgta aagaatttag ctgtatcaaa ctagtgcatg aatagattct ctcctgatta
     2761 tttatcacat agccccttag ccagttgtat attattcttg tggtttgtga cccaattaag
     2821 tcctacttta catatgcttt aagaatcgat gggggatgct tcatgtgaac gtgggagttc
     2881 agctgcttct cttgcctaag tattcctttc ctgatcacta tgcattttaa agttaaacat
     2941 ttttaagtat ttcagatgct ttagagagat tttttttcca tgactgcatt ttactgtaca
     3001 gattgctgct tctgctatat ttgtgatata ggaattaaga ggatacacac gtttgtttct
     3061 tcgtgcctgt tttatgtgca cacattaggc attgagactt caagcttttc tttttttgtc
     3121 cacgtatctt tgggtctttg ataaagaaaa gaatccctgt tcattgtaag cacttttacg
     3181 gggcgggtgg ggaggggtgc tctgctggtc ttcaattacc aagaattctc caaaacaatt
     3241 ttctgcagga tgattgtaca gaatcattgc ttatgacatg atcgctttct acactgtatt
     3301 acataaataa attaaataaa ataaccccgg gcaagacttt tctttgaagg atgactacag
     3361 acattaaata atcgaagtaa ttttgggtgg ggagaagagg cagattcaat tttctttaac
     3421 cagtctgaag tttcatttat gatacaaaag aagatgaaaa tggaagtggc aatataaggg
     3481 gatgaggaag gcatgcctgg acaaaccctt cttttaagat gtgtcttcaa tttgtataaa
     3541 atggtgtttt catgtaaata aatacattct tggaggagc
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001784. Homo sapiens CD97...[gi:17978488] Links  


LOCUS       CD97                    2921 bp    mRNA    linear   PRI 21-DEC-2001
DEFINITION  Homo sapiens CD97 antigen (CD97), transcript variant 2, mRNA.
ACCESSION   NM_001784
VERSION     NM_001784.2  GI:17978488
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2921)
  AUTHORS   Hamann,J., Eichler,W., Hamann,D., Kerstens,H.M., Poddighe,P.J.,
            Hoovers,J.M., Hartmann,E., Strauss,M. and van Lier,R.A.
  TITLE     Expression cloning and chromosomal mapping of the leukocyte
            activation antigen CD97, a new seven-span transmembrane molecule of
            the secretion receptor superfamily with an unusual extracellular
            domain
  JOURNAL   J. Immunol. 155 (4), 1942-1950 (1995)
  MEDLINE   95363161
   PUBMED   7636245
REFERENCE   2  (bases 1 to 2921)
  AUTHORS   Hamann,J., Hartmann,E. and van Lier,R.A.
  TITLE     Structure of the human CD97 gene: exon shuffling has generated a
            new type of seven-span transmembrane molecule related to the
            secretin receptor superfamily
  JOURNAL   Genomics 32 (1), 144-147 (1996)
  MEDLINE   96230339
   PUBMED   8786105
REFERENCE   3  (bases 1 to 2921)
  AUTHORS   Hamann,J., Vogel,B., van Schijndel,G.M. and van Lier,R.A.
  TITLE     The seven-span transmembrane receptor CD97 has a cellular ligand
            (CD55, DAF)
  JOURNAL   J. Exp. Med. 184 (3), 1185-1189 (1996)
  MEDLINE   97188935
   PUBMED   9064337
REFERENCE   4  (bases 1 to 2921)
  AUTHORS   Gray,J.X., Haino,M., Roth,M.J., Maguire,J.E., Jensen,P.N.,
            Yarme,A., Stetler-Stevenson,M.A., Siebenlist,U. and Kelly,K.
  TITLE     CD97 is a processed, seven-transmembrane, heterodimeric receptor
            associated with inflammation
  JOURNAL   J. Immunol. 157 (12), 5438-5447 (1996)
  MEDLINE   97113332
   PUBMED   8955192
REFERENCE   5  (bases 1 to 2921)
  AUTHORS   Jaspars,L.H., Vos,W., Aust,G., Van Lier,R.A. and Hamann,J.
  TITLE     Tissue distribution of the human CD97 EGF-TM7 receptor
  JOURNAL   Tissue Antigens 57 (4), 325-331 (2001)
  MEDLINE   21276051
   PUBMED   11380941
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X84700.1.
            On Dec 26, 2001 this sequence version replaced gi:4502690.
            Summary: This gene is a founding member of the EGF-TM7 family of
            class II seven-span transmembrane (7-TM) molecules, likely encoded
            by a gene cluster on the short arm of chromosome 19. The encoded
            product is a glycoprotein that is present on the surface of most
            activated leukocytes and spans the membrane seven times, which is a
            defining feature of G protein-coupled receptors. The protein has an
            extended extracellular region with several N-terminal epidermal
            growth factor (EGF)-like domains, which mediate binding to its
            cellular ligand, decay accelerating factor (DAF, CD55), a
            regulatory protein of the complement cascade. The presence of
            structural features characteristic of extracellular matrix proteins
            and transmembrane proteins suggests that this protein is a receptor
            involved in both cell adhesion and signaling processes early after
            leukocyte activation. Alternative splicing has been observed for
            this gene and two variants have been described.
            Transcript Variant: This variant (2) lacks exons 5 and 6 and
            encodes a shorter isoform (2) compared to variant 1. The missing
            internal region reduces the number of EGF-like domains from 5 to 3,
            compared to the full-length isoform (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2921
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13"
     gene            1..2921
                     /gene="CD97"
                     /note="TM7LN1"
                     /db_xref="LocusID:976"
                     /db_xref="MIM:601211"
     CDS             71..2299
                     /gene="CD97"
                     /note="isoform 2 is encoded by transcript variant 2;
                     leukocyte antigen CD97; seven-span transmembrane protein"
                     /codon_start=1
                     /product="CD97 antigen, isoform 2 precursor"
                     /protein_id="NP_001775.2"
                     /db_xref="GI:17978489"
                     /db_xref="LocusID:976"
                     /db_xref="MIM:601211"
                     /db_xref="LocusID:976"
                     /db_xref="MIM:601211"
                     /translation="MGGRVFLAFCVWLTLPGAETQDSRGCARWCPQNSSCVNATACRC
                     NPGFSSFSEIITTPTETCDDINECATPSKVSCGKFSDCWNTEGSYDCVCSPGYEPVSG
                     AKTFKNESENTCQDVDECSSGQHQCDSSTVCFNTVGSYSCRCRPGWKPRHGIPNNQKD
                     TVCEDMTFSTWTPPPGVHSQTLSRFFDKVQDLGRDSKTSSAEVTIQNVIKLVDELMEA
                     PGDVEALAPPVRHLIATQLLSNLEDIMRILAKSLPKGPFTYISPSNTELTLMIQERGD
                     KNVTMGQSSARMKLNWAVAAGAEDPGPAVAGILSIQNMTTLLANASLNLHSKKQAELE
                     EIYESSIRGVQLRRLSAVNSIFLSHNNTKELNSPILFAFSHLESSDGEAGRDPPAKDV
                     MPGPRQELLCAFWKSDSDRGGHWATEGCQVLGSKNGSTTCQCSHLSSFAILMAHYDVE
                     DWKLTLITRVGLALSLFCLLLCILTFLLVRPIQGSRTTIHLHLCICLFVGSTIFLAGI
                     ENEGGQVGLRCRLVAGLLHYCFLAAFCWMSLEGLELYFLVVRVFQGQGLSTRWLCLIG
                     YGVPLLIVGVSAAIYSKGYGRPRYCWLDFEQGFLWSFLGPVTFIILCNAVIFVTTVWK
                     LTQKFSEINPDMKKLKKARALTITAIAQLFLLGCTWVFGLFIFDDRSLVLTYVFTILN
                     CLQGAFLYLLHCLLNKKVREEYRKWACLVAGGSKYSEFTSTTSGTGHNQTRALRASES
                     GI"
     sig_peptide     71..130
                     /gene="CD97"
     mat_peptide     131..2296
                     /gene="CD97"
                     /product="CD97 antigen, isoform 2"
     misc_feature    260..364
                     /gene="CD97"
                     /note="EGF_CA; Region: Calcium-binding EGF-like domain"
                     /db_xref="CDD:smart00179"
     misc_feature    416..514
                     /gene="CD97"
                     /note="EGF_CA; Region: Calcium-binding EGF-like domain"
                     /db_xref="CDD:smart00179"
     misc_feature    425..514
                     /gene="CD97"
                     /note="EGF; Region: Epidermal growth factor-like domain"
                     /db_xref="CDD:smart00181"
     misc_feature    1262..1411
                     /gene="CD97"
                     /note="GPS; Region: Latrophilin/CL-1-like GPS domain.
                     Domain present in latrophilin/CL-1"
                     /db_xref="CDD:pfam01825"
     misc_feature    1265..1417
                     /gene="CD97"
                     /note="GPS; Region: G-protein-coupled receptor proteolytic
                     site domain"
                     /db_xref="CDD:smart00303"
     misc_feature    1421..2170
                     /gene="CD97"
                     /note="7tm_2; Region: 7 transmembrane receptor (Secretin
                     family)"
                     /db_xref="CDD:pfam00002"
     misc_feature    1547..2161
                     /gene="CD97"
                     /note="7tm_1; Region: 7 transmembrane receptor (rhodopsin
                     family)"
                     /db_xref="CDD:pfam00001"
     misc_feature    1844..2185
                     /gene="CD97"
                     /note="Sre; Region: C. elegans Sre G protein-coupled
                     chemoreceptor. Caenorhabditis elegans Sre proteins are
                     candidate chemosensory receptors. There are four main
                     recognized groups of such receptors: Odr-10"
                     /db_xref="CDD:pfam03125"
     misc_feature    416^417
                     /gene="CD97"
                     /note="Region: missing exons 5 and 6"
     variation       891
                     /gene="CD97"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2230748"
     variation       1139
                     /gene="CD97"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1042850"
     variation       1326
                     /gene="CD97"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3182286"
     polyA_signal    2881..2886
                     /gene="CD97"
     polyA_site      2899
                     /gene="CD97"
                     /evidence=experimental
BASE COUNT      608 a    891 c    801 g    621 t
ORIGIN      
        1 agcctgtgga gacgggacag ccctgtccca ctcactcttt cccctgccgc tcctgccggc
       61 agctccaacc atgggaggcc gcgtctttct cgcattctgt gtctggctga ctctgccggg
      121 agctgaaacc caggactcca ggggctgtgc ccggtggtgc cctcagaact cctcgtgtgt
      181 caatgccacc gcctgtcgct gcaatccagg gttcagctct ttttctgaga tcatcaccac
      241 cccgacggag acttgtgacg acatcaacga gtgtgcaaca ccgtcgaaag tgtcatgcgg
      301 aaaattctcg gactgctgga acacagaggg gagctacgac tgcgtgtgca gcccgggata
      361 tgagcctgtt tctggggcaa aaacattcaa gaatgagagc gagaacacct gtcaagatgt
      421 ggacgagtgc agctccgggc agcatcagtg tgacagctcc accgtctgct tcaacaccgt
      481 gggttcatac agctgccgct gccgcccagg ctggaagccc agacacggaa tcccgaataa
      541 ccaaaaggac actgtctgtg aagatatgac tttctccacc tggaccccgc cccctggagt
      601 ccacagccag acgctttccc gattcttcga caaagtccag gacctgggca gagactccaa
      661 gacaagctca gccgaggtca ccatccagaa tgtcatcaaa ttggtggatg aactgatgga
      721 agctcctgga gacgtagagg ccctggcgcc acctgtccgg cacctcatag ccacccagct
      781 gctctcaaac cttgaagata tcatgaggat cctggccaag agcctgccta aaggcccctt
      841 cacctacatt tccccttcga acacagagct gaccctgatg atccaggagc ggggggacaa
      901 gaacgtcact atgggtcaga gcagcgcacg catgaagctg aattgggctg tggcagctgg
      961 agccgaggat ccaggccccg ccgtggcggg catcctctcc atccagaaca tgacgacatt
     1021 gctggccaat gcctccttga acctgcattc caagaagcaa gccgaactgg aggagatata
     1081 tgaaagcagc atccgtggtg tccaactcag acgcctctct gccgtcaact ccatctttct
     1141 gagccacaac aacaccaagg aactcaactc ccccatcctt ttcgccttct cccaccttga
     1201 gtcctccgat ggggaggcgg gaagagaccc tcctgccaag gacgtgatgc ctgggccacg
     1261 gcaggagctg ctctgtgcct tctggaagag tgacagcgac aggggagggc actgggccac
     1321 cgagggctgc caggtgctgg gcagcaagaa cggcagcacc acctgccaat gcagccacct
     1381 gagcagcttt gcgatcctta tggctcatta tgacgtggag gactggaagc tgaccctgat
     1441 caccagggtg ggactggcgc tgtcactctt ctgcctgctg ctgtgcatcc tcactttcct
     1501 gctggtgcgg cccatccagg gctcgcgcac caccatacac ctgcacctct gcatctgcct
     1561 cttcgtgggc tccaccatct tcctggccgg catcgagaac gaaggcggcc aggtggggct
     1621 gcgctgccgc ctggtggccg ggctgctgca ctactgtttc ctggccgcct tctgctggat
     1681 gagcctcgaa ggcctggagc tctactttct tgtggtgcgc gtgttccaag gccagggcct
     1741 gagtacgcgc tggctctgcc tgatcggcta tggcgtgccc ctgctcatcg tgggcgtctc
     1801 ggctgccatc tacagcaagg gctacggccg ccccagatac tgctggttgg actttgagca
     1861 gggcttcctc tggagcttct tgggacctgt gaccttcatc attttgtgca atgctgtcat
     1921 tttcgtgact accgtctgga agctcactca gaagttttct gaaatcaatc cagacatgaa
     1981 gaaattaaag aaggcgaggg cgctgaccat cacggccatc gcgcagctct tcctgttggg
     2041 ctgcacctgg gtctttggcc tgttcatctt cgacgatcgg agcttggtgc tgacctatgt
     2101 gtttaccatc ctcaactgcc tgcagggcgc cttcctctac ctgctgcact gcctgctcaa
     2161 caagaaggtt cgggaagaat accggaagtg ggcctgccta gttgctgggg ggagcaagta
     2221 ctcagaattc acctccacca cgtctggcac tggccacaat cagacccggg ccctcagggc
     2281 atcagagtcc ggcatatgaa ggcgcatggt tctggacggc ccagcagctc ctgtggccac
     2341 agcagctttg tacacgaaga ccatccatcc tcccttcgtc caccactcta ctccctccac
     2401 cctccctccc tgatcccgtg tgccaccagg agggagtggc agctatagtc tggcaccaaa
     2461 gtccaggaca cccagtgggg tggagtcgga gccactggtc ctgctgctgg ctgcctctct
     2521 gctccacctt gtgacccagg gtggggacag gggctggccc agggctgcaa tgcagcatgt
     2581 tgccctggca cctgtggcca gtactcggga cagactaagg gcgcttgtcc catcctggac
     2641 ttttcctctc atgtctttgc tgcagaactg aagagactag gcgctggggc tcagcttccc
     2701 tcttaagcta agactgatgt cagaggcccc atggcgaggc cccttggggc cactgcctga
     2761 ggctcacggt acagaggcct gccctgcctg gccgggcagg aggttctcac tgttgtgaag
     2821 gttgtagacg ttgtgtaatg tgtttttatc tgttaaaatt tttcagtgtt gacacttaaa
     2881 attaaacaca tgcatacaga aaaaaaaaaa aaaaaaaaaa a
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&


    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_005141. Homo sapiens fibr...[gi:11761630] Links  


LOCUS       FGB                     1918 bp    mRNA    linear   PRI 03-FEB-2001
DEFINITION  Homo sapiens fibrinogen, B beta polypeptide (FGB), mRNA.
ACCESSION   NM_005141
VERSION     NM_005141.1  GI:11761630
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1918)
  AUTHORS   Chung,D.W., Que,B.G., Rixon,M.W., Mace,M. Jr. and Davie,E.W.
  TITLE     Characterization of complementary deoxyribonucleic acid and genomic
            deoxyribonucleic acid for the beta chain of human fibrinogen
  JOURNAL   Biochemistry 22 (13), 3244-3250 (1983)
  MEDLINE   83283433
   PUBMED   6688356
REFERENCE   2  (bases 1 to 1918)
  AUTHORS   Chung,D.W., Rixon,M.W., Que,B.G. and Davie,E.W.
  TITLE     Cloning of fibrinogen genes and their cDNA
  JOURNAL   Ann. N. Y. Acad. Sci. 408, 449-456 (1983)
  MEDLINE   83254384
   PUBMED   6575700
REFERENCE   3  (bases 1 to 1918)
  AUTHORS   Doolittle,R.F.
  TITLE     Fibrinogen and fibrin
  JOURNAL   Annu. Rev. Biochem. 53, 195-229 (1984)
  MEDLINE   84305751
   PUBMED   6383194
REFERENCE   4  (bases 1 to 1918)
  AUTHORS   Huber,P., Dalmon,J., Courtois,G., Laurent,M., Assouline,Z. and
            Marguerie,G.
  TITLE     Characterization of the 5'-flanking region for the human fibrinogen
            beta gene
  JOURNAL   Nucleic Acids Res. 15 (4), 1615-1625 (1987)
  MEDLINE   87146483
   PUBMED   3029722
REFERENCE   5  (bases 1 to 1918)
  AUTHORS   Herrick,S., Blanc-Brude,O., Gray,A. and Laurent,G.
  TITLE     Fibrinogen
  JOURNAL   Int. J. Biochem. Cell Biol. 31 (7), 741-746 (1999)
  MEDLINE   99397060
   PUBMED   10467729
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from J00129.1 and M64983.1.
            Summary: The protein encoded by this gene is the beta component of
            fibrinogen, a blood-borne glycoprotein comprised of three pairs of
            nonidentical polypeptide chains. Following vascular injury,
            fibrinogen is cleaved by thrombin to form fibrin which is the most
            abundant component of blood clots. In addition, various cleavage
            products of fibrinogen and fibrin regulate cell adhesion and
            spreading, display vasoconstrictor and chemotactic activities, and
            are mitogens for several cell types. Mutations in this gene lead to
            several disorders, including afibrinogenemia, dysfibrinogenemia,
            hypodysfibrinogenemia and thrombotic tendency. S1 mapping studies
            on the 5'-flanking region of this gene revealed three transcription
            initiation points. Transcript variants utilizing alternative polyA
            signals have been described in the literature.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1918
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q28"
     gene            1..1918
                     /gene="FGB"
                     /db_xref="LocusID:2244"
                     /db_xref="MIM:134830"
     misc_feature    4
                     /gene="FGB"
                     /note="alternative transcription initiation site"
                     /evidence=experimental
     misc_feature    7
                     /gene="FGB"
                     /note="alternative transcription initiation site"
                     /evidence=experimental
     CDS             9..1484
                     /gene="FGB"
                     /note="fibrinogen, B beta polypeptide"
                     /codon_start=1
                     /product="fibrinogen, beta chain preproprotein"
                     /protein_id="NP_005132.1"
                     /db_xref="GI:11761631"
                     /db_xref="LocusID:2244"
                     /db_xref="MIM:134830"
                     /translation="MKRMVSWSFHKLKTMKHLLLLLLCVFLVKSQGVNDNEEGFFSAR
                     GHRPLDKKREEAPSLRPAPPPISGGGYRARPAKAAATQKKVERKAPDAGGCLHADPDL
                     GVLCPTGCQLQEALLQQERPIRNSVDELNNNVEAVSQTSSSSFQYMYLLKDLWQKRQK
                     QVKDNENVVNEYSSELEKHQLYIDETVNSNIATNLRVLRSILENLRSKIQKLESDVSA
                     QMEYCRTPCTVSCNIPVVSGKECEEIIRKGGETSEMYLIQPDSSVKPYRVYCDMNTEN
                     GGWTVIQNRQDGSVDFGRKWDPYKQGFGNVATNTDGKNYCGLPGEYWLGNDKISQLTR
                     MGPTELLIEMEDWKGDKVKAHYGGFTVQNEANKYQISVNKYRGTAGNALMDGASQLMG
                     ENRTMTIHNGMFFSTYDRDNDGWLTSDPRKQCSKEDGGGWWYNRCHAANPNGRYYWGG
                     QYTWDMAKHGTDDGVVWMNWKGSWYSMRKMSMKIRPFFPQQ"
     sig_peptide     9..98
                     /gene="FGB"
     mat_peptide     99..140
                     /gene="FGB"
                     /product="fibrinopeptide B"
                     /note="processed active peptide"
     mat_peptide     141..1481
                     /gene="FGB"
                     /product="fibrinogen, beta chain"
                     /note="thrombin cleavage product"
     misc_feature    348..674
                     /gene="FGB"
                     /note="SynN; Region: Syntaxin N-terminal domain"
                     /db_xref="CDD:SynN"
     misc_feature    714..1469
                     /gene="FGB"
                     /note="FBG; Region: Fibrinogen-related domains (FReDs)"
                     /db_xref="CDD:FBG"
     misc_feature    717..1469
                     /gene="FGB"
                     /note="fibrinogen_C; Region: Fibrinogen beta and gamma
                     chains"
                     /db_xref="CDD:pfam00147"
     misc_feature    99..1481
                     /gene="FGB"
                     /note="encodes fibrinogen, beta chain proprotein"
     variation       575
                     /gene="FGB"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:6056"
     variation       582
                     /gene="FGB"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1043726"
     variation       614
                     /gene="FGB"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1043727"
     variation       1121
                     /gene="FGB"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:6057"
     variation       1133
                     /gene="FGB"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:4681"
     variation       1441
                     /gene="FGB"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:4220"
     polyA_signal    1563..1568
                     /gene="FGB"
     polyA_site      1584
                     /gene="FGB"
                     /evidence=experimental
     polyA_signal    1632..1637
                     /gene="FGB"
     polyA_site      1650
                     /gene="FGB"
                     /evidence=experimental
     polyA_site      1653
                     /gene="FGB"
                     /evidence=experimental
     polyA_signal    1896..1901
                     /gene="FGB"
     polyA_site      1915
                     /gene="FGB"
                     /evidence=experimental
     polyA_site      1918
                     /gene="FGB"
                     /evidence=experimental
BASE COUNT      624 a    355 c    440 g    499 t
ORIGIN      
        1 aagtctacat gaaaaggatg gtttcttgga gcttccacaa acttaaaacc atgaaacatc
       61 tattattgct actattgtgt gtttttctag ttaagtccca aggtgtcaac gacaatgagg
      121 agggtttctt cagtgcccgt ggtcatcgac cccttgacaa gaagagagaa gaggctccca
      181 gcctgaggcc tgccccaccg cccatcagtg gaggtggcta tcgggctcgt ccagccaaag
      241 cagctgccac tcaaaagaaa gtagaaagaa aagcccctga tgctggaggc tgtcttcacg
      301 ctgacccaga cctgggggtg ttgtgtccta caggatgtca gttgcaagag gctttgctac
      361 aacaggaaag gccaatcaga aatagtgttg atgagttaaa taacaatgtg gaagctgttt
      421 cccagacctc ctcttcttcc tttcagtaca tgtatttgct gaaagacctg tggcaaaaga
      481 ggcagaagca agtaaaagat aatgaaaatg tagtcaatga gtactcctca gaactggaaa
      541 agcaccaatt atatatagat gagactgtga atagcaatat cgcaactaac cttcgtgtgc
      601 ttcgttcaat cctagaaaac ctgagaagca aaatacaaaa gttagaatct gatgtctcag
      661 ctcaaatgga atattgtcgc accccatgca ctgtcagttg caatattcct gtggtgtctg
      721 gcaaagaatg tgaggaaatt atcaggaaag gaggtgaaac atctgaaatg tatctcattc
      781 aacctgacag ttctgtcaaa ccgtatagag tatactgtga catgaataca gaaaatggag
      841 gatggacagt gattcagaac cgtcaagacg gtagtgttga ctttggcagg aaatgggatc
      901 catataaaca gggatttgga aatgttgcaa ccaacacaga tgggaagaat tactgtggcc
      961 taccaggtga atattggctt ggaaatgata aaattagcca gcttaccagg atgggaccca
     1021 cagaactttt gatagaaatg gaggactgga aaggagacaa agtaaaggct cactatggag
     1081 gattcactgt acagaatgaa gccaacaaat accagatctc agtgaacaaa tacagaggaa
     1141 cagccggtaa tgccctcatg gatggagcat ctcagctgat gggagaaaac aggaccatga
     1201 ccattcacaa cggcatgttc ttcagcacgt atgacagaga caatgacggc tggttaacat
     1261 cagatcccag aaaacagtgt tctaaagaag acggtggtgg atggtggtat aatagatgtc
     1321 atgcagccaa tccaaacggc agatactact ggggtggaca gtacacctgg gacatggcaa
     1381 agcatggcac agatgatggt gtagtatgga tgaattggaa ggggtcatgg tactcaatga
     1441 ggaagatgag tatgaagatc aggcccttct tcccacagca atagtcccca atacgtagat
     1501 ttttgctctt ctgtatgtga caacattttt gtacattatg ttattggaat tttctttcat
     1561 acattatatt cctctaaaac tctcaagcag acgtgagtgt gactttttga aaaaagtata
     1621 ggataaatta cattaaaata gcacatgatt ttcttttgtt ttcttcattt ctcttgctca
     1681 ccaagaagta acaaaagtat agttttgaca gagttggtgt tcataatttc agttctagtt
     1741 gattgcgaga attttcaaat aaggaagagg ggtcttttat ccttgtcgta ggaaaaccat
     1801 gacggaaagg aaaaactgat gtttaaaagt ccacttttaa aactatattt atttatgtag
     1861 gatctgtcaa agaaaacttc caaaaagatt tattaattaa accagactct gttgcaat
//



Revised: July 5, 2002.
 
 


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1: NM_007085. Homo sapiens foll...[gi:15890081] Links  


LOCUS       FSTL1                   3714 bp    mRNA    linear   PRI 04-JUN-2002
DEFINITION  Homo sapiens follistatin-like 1 (FSTL1), mRNA.
ACCESSION   NM_007085
VERSION     NM_007085.2  GI:15890081
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3714)
  AUTHORS   Zwijsen,A., Blockx,H., Van Arnhem,W., Willems,J., Fransen,L.,
            Devos,K., Raymackers,J., Van de Voorde,A. and Slegers,H.
  TITLE     Characterization of a rat C6 glioma-secreted follistatin-related
            protein (FRP). Cloning and sequence of the human homologue
  JOURNAL   Eur. J. Biochem. 225 (3), 937-946 (1994)
  MEDLINE   95045570
   PUBMED   7957230
REFERENCE   2  (bases 1 to 3714)
  AUTHORS   Tanaka,M., Ozaki,S., Osakada,F., Mori,K., Okubo,M. and Nakao,K.
  TITLE     Cloning of follistatin-related protein as a novel autoantigen in
            systemic rheumatic diseases
  JOURNAL   Int. Immunol. 10 (9), 1305-1314 (1998)
  MEDLINE   99000396
   PUBMED   9786430
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC000055.1.
            On Oct 3, 2001 this sequence version replaced gi:5901955.
            Summary: This gene encodes a protein with similarity to
            follistatin, an activin-binding protein. Like follistatin, this
            protein binds activin; in constrast to follistatin, it is nuclear
            rather than secreted. It is thought to be an autoantigen associated
            with rheumatoid arthritis.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3714
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.33"
     gene            1..3714
                     /gene="FSTL1"
                     /note="FRP; FSL1"
                     /db_xref="LocusID:11167"
                     /db_xref="MIM:605547"
     CDS             92..1018
                     /gene="FSTL1"
                     /note="follistatin-related protein"
                     /codon_start=1
                     /product="follistatin-like 1 precursor"
                     /protein_id="NP_009016.1"
                     /db_xref="GI:5901956"
                     /db_xref="LocusID:11167"
                     /db_xref="MIM:605547"
                     /translation="MWKRWLALALALVAVAWVRAEEELRSKSKICANVFCGAGRECAV
                     TEKGEPTCLCIEQCKPHKRPVCGSNGKTYLNHCELHRDACLTGSKIQVDYDGHCKEKK
                     SVSPSASPVVCYQSNRDELRRRIIQWLEAEIIPDGWFSKGSNYSEILDKYFKNFDNGD
                     SRLDSSEFLKFVEQNETAINITTYPDQENNKLLRGLCVDALIELSDENADWKLSFQEF
                     LKCLNPSFNPPEKKCALEDETYADGAETEVDCNRCVCACGNWVCTAMTCDGKNQKGAQ
                     TQTEEEMTRYVQELQKHQETAEKTKRVSTKEI"
     sig_peptide     92..151
                     /gene="FSTL1"
     mat_peptide     152..1015
                     /gene="FSTL1"
                     /product="follistatin-like 1"
     misc_feature    251..385
                     /gene="FSTL1"
                     /note="KAZAL; Region: Kazal type serine protease
                     inhibitors"
                     /db_xref="CDD:smart00280"
     misc_feature    263..385
                     /gene="FSTL1"
                     /note="kazal; Region: Kazal-type S protease inhibitor
                     domain"
                     /db_xref="CDD:pfam00050"
     misc_feature    788..904
                     /gene="FSTL1"
                     /note="VWC_out; Region: von Willebrand factor (vWF) type C
                     domain"
                     /db_xref="CDD:smart00215"
     variation       1531
                     /gene="FSTL1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1259328"
     variation       1865
                     /gene="FSTL1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:12192"
     variation       1904
                     /gene="FSTL1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1056928"
     variation       1959
                     /gene="FSTL1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:12173"
     variation       2181
                     /gene="FSTL1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1700"
     variation       complement(2690)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3732365"
     variation       2690
                     /gene="FSTL1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:13709"
     variation       2856
                     /gene="FSTL1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:8865"
     variation       3340
                     /gene="FSTL1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1057117"
     variation       3415
                     /gene="FSTL1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1057231"
     variation       complement(3415)
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3732364"
     variation       complement(3505)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:14909"
     variation       3532
                     /gene="FSTL1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2488"
     polyA_signal    3674..3679
                     /gene="FSTL1"
     polyA_site      3691
                     /gene="FSTL1"
                     /evidence=experimental
BASE COUNT     1042 a    824 c    837 g   1011 t
ORIGIN      
        1 ggcacgaggg atcggcggag ctcccacctc cgcttacagc tcgctgccgc cgtcctgccc
       61 cgcgccccca ggagacctgg accagaccac gatgtggaaa cgctggctcg cgctcgcgct
      121 cgcgctggtg gcggtcgcct gggtccgcgc cgaggaagag ctaaggagca aatccaagat
      181 ctgtgccaat gtgttttgtg gagccggccg ggaatgtgca gtcacagaga aaggggaacc
      241 cacctgtctc tgcattgagc aatgcaaacc tcacaagagg cctgtgtgtg gcagtaatgg
      301 caagacctac ctcaaccact gtgaactgca tcgagatgcc tgcctcactg gatccaaaat
      361 ccaggttgat tacgatggac actgcaaaga gaagaaatcc gtaagtccat ctgccagccc
      421 agttgtttgc tatcagtcca accgtgatga gctccgacgt cgcatcatcc agtggctgga
      481 agctgagatc attccagatg gctggttctc taaaggcagc aactacagtg aaatcctaga
      541 caagtatttt aagaactttg ataatggtga ttctcgcctg gactccagtg aattcctgaa
      601 gtttgtggaa cagaatgaaa ctgccatcaa tattacaacg tatccagacc aggagaacaa
      661 caagttgctt aggggactct gtgttgatgc tctcattgaa ctgtctgatg aaaatgctga
      721 ttggaaactc agcttccaag agtttctcaa gtgcctcaac ccatctttca accctcctga
      781 gaagaagtgt gccctggagg atgaaacgta tgcagatgga gctgagaccg aggtggactg
      841 taaccgctgt gtctgtgcct gtggaaattg ggtctgtaca gccatgacct gtgacggaaa
      901 gaatcagaag ggggcccaga cccagacaga ggaggagatg accagatatg tccaggagct
      961 ccaaaagcat caggaaacag ctgaaaagac caagagagtg agcaccaaag agatctaatg
     1021 aggaggcaca gaccagtgtc tggatcccag catcttctcc acttcagcgc tgagttcagt
     1081 atacacaagt gtctgctaca gtcgccaaat caccagtatt tgcttatata gcaatgagtt
     1141 ttattttgtt tatttgtttt gcaataaagg atatgaaggt ggctggctag gaagggaagg
     1201 gccacagcct tcatttctag gagtgcttta agagaaactg taaatggtgc tctggggctg
     1261 gaggctagta aggaaactgc atcacgattg aaagaggaac agacccaaat ctgaacctct
     1321 tttgagttta ctgcatctgt cagcaggctg cagggagtgc acacgatgcc agagagaact
     1381 tagcagggtg tccccggagg agaggtttgg gaagctccac ggagaggaac gctctctgct
     1441 tccagcctct ttccattgcc gtcagcatga cagacctcca gcatccacgc atctcttggt
     1501 cccaataact gcctctagat acatagccat actgctagtt aacccagtgt ccctcagact
     1561 tggatggagt ttctgggagg gtacacccaa atgatgcaga tacttgtata ctttgagccc
     1621 cttagcgacc taaccaaatt ttaaaaatac tttttaccaa aggtgctatt tctctgtaaa
     1681 acactttttt tttggcaagt tgactttatt cttcaattat tatcattata ttattgtttt
     1741 ttaatatttt attttcttga ctaggtatta agcttttgta attatttttc agtagtccca
     1801 ccacttcata ggtggaagga gtttggggtt cttcctggtg caggggctga aataacccag
     1861 atgcccccac cctgccacat actagatgca gcccatagtt ggccccccta gcttccagca
     1921 gtccactatc tgccagagga gcaagggtgc cttagaccga agccagggga agaagcatct
     1981 tcataaaaaa ctttcaagat ccaaacatta atttgttttt atttattctg agaagttgag
     2041 gcaaatcagt attcccaagg atggcgacaa gggcagccaa gcagggctta ggatatccca
     2101 gcctaccaat atgctcattc gactaactag gagggtgagt tggccctgtc tcttcttttt
     2161 tctggacctc agtttcctca gtgagctggt aagaatgcac taaccttttg atttgataag
     2221 ttataaattc tgtggttctg atcattggtc cagaggggag ataggttcct gtgatttttc
     2281 cttcttctct atagaataaa tgaaatcttg ttactagaac aagaaatgtc agatggccaa
     2341 aaacaagatg accagatttg atctcagcct gatgacccta caggtcgtgc tatgatatgg
     2401 agtcctcatg ggtaaagcag gaagagagtg ggaaagagaa ccaccccact ctgtcttcat
     2461 atttgcattt catgtttaac ctccggctgg aaatagaaag cattccctta gagatgagga
     2521 taaaagaaag tttcagattc aacaggggga agaaaatgga gatttaatcc taaaactgtg
     2581 acttggggag gtcagtcatt tacagttagt cctgtgtctt tcgacttctg tgattattaa
     2641 ccccactcac taccctgttt cagatgcatt tggaatacca aagattaaat ccttgacata
     2701 agatctcatt tgcagaaagc agattaaaga ccatcagaag gaaattattt aggttgtaat
     2761 gcacaggcaa ctgtgagaaa ctgttgtgcc aaaaatagaa ttccttctag tttttcttgt
     2821 tctcatttga aaggagaaaa ttccactttg tttagcattt caagctttta tgtatccatc
     2881 ccatctaaaa actcttcaaa ctccacttgt tcagtctgaa atgcagctcc ctgtccaagt
     2941 gccttggaga actcacagca gcacgcctta atcaaaggtt ttaccagccc ttggacacta
     3001 tgggaggagg gcaagagtac accaatttgt taaaagcaag aaaccacagt gtctcttcac
     3061 tagtcattta gaacatggtt atcatccaag actactctac cctgcaacat tgaactccca
     3121 agagcaaatc cacattcctc ttgagttctg cagcttctgt gtaaataggg cagctgtcgt
     3181 ctatgccgta gaatcacatg atctgaggac cattcatgga agctgctaaa tagcctagtc
     3241 tggggagtct tccataaagt tttgcatgga gcaaacaaac aggattaaac taggtttggt
     3301 tccttcagcc ctctaaaagc atagggctta gcctgcaggc ttccttgggc tttctctgtg
     3361 tgtgtagttt tgtaaacact atagcatctg ttaagatcca gtgtccatgg aaacattccc
     3421 acatgccgtg actctggact atatcagttt ttggaaagca gggttcctct gcctgctaac
     3481 aagcccacgt ggaccagtct gaatgtcttt cctttacacc tatgttttta agtagtcaaa
     3541 cttcaagaaa caatctaaac aagtttctgt tgcatatgtg tttgtgaact tgtatttgta
     3601 tttagtaggc ttctatattg catttaactt gtttttgtaa ctcctgattc ttccttttcg
     3661 gatactattg atgaataaag aaattaaagt gaaaaaaaaa aaaaaaaaaa aaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001153. Homo sapiens anne...[gi:4809272] Links  


LOCUS       ANXA4                   1982 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens annexin A4 (ANXA4), mRNA.
ACCESSION   NM_001153
VERSION     NM_001153.2  GI:4809272
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1982)
  AUTHORS   Grundmann,U., Amann,E., Abel,K.J. and Kupper,H.A.
  TITLE     Isolation and expression of cDNA coding for a new member of the
            phospholipase A2 inhibitor family
  JOURNAL   Behring Inst. Mitt. 82, 59-67 (1988)
  MEDLINE   88309022
   PUBMED   2970257
REFERENCE   2  (bases 1 to 1982)
  AUTHORS   Hauptmann,R., Maurer-Fogy,I., Krystek,E., Bodo,G., Andree,H. and
            Reutelingsperger,C.P.
  TITLE     Vascular anticoagulant beta: a novel human Ca2+/phospholipid
            binding protein that inhibits coagulation and phospholipase A2
            activity. Its molecular cloning, expression and comparison with
            VAC-alpha
  JOURNAL   Eur. J. Biochem. 185 (1), 63-71 (1989)
  MEDLINE   90032687
   PUBMED   2530088
REFERENCE   3  (bases 1 to 1982)
  AUTHORS   Romisch,J. and Heimburger,N.
  TITLE     Purification and characterization of six annexins from human
            placenta
  JOURNAL   Biol. Chem. Hoppe-Seyler 371 (5), 383-388 (1990)
  MEDLINE   90334740
   PUBMED   2143074
REFERENCE   4  (bases 1 to 1982)
  AUTHORS   Romisch,J., Grote,M., Weithmann,K.U., Heimburger,N. and Amann,E.
  TITLE     Annexin proteins PP4 and PP4-X. Comparative characterization of
            biological activities of placental and recombinant proteins
  JOURNAL   Biochem. J. 272 (1), 223-229 (1990)
  MEDLINE   91090718
   PUBMED   2148260
REFERENCE   5  (bases 1 to 1982)
  AUTHORS   Tait,J.F., Smith,C., Frankenberry,D.A., Miao,C.H., Adler,D.A. and
            Disteche,C.M.
  TITLE     Chromosomal mapping of the human annexin IV (ANX4) gene
  JOURNAL   Genomics 12 (2), 313-318 (1992)
  MEDLINE   92155721
   PUBMED   1346776
REFERENCE   6  (bases 1 to 1982)
  AUTHORS   Satoh,A., Takayama,E., Kojima,K., Ogawa,H., Yamori,T., Sato,S.,
            Kawaguchi,T., Tsuruo,T., Katsura,Y., Kina,T. and Matsumoto,I.
  TITLE     Expression of carbohydrate-binding protein p33/41 in human tumor
            cell lines
  JOURNAL   J. Biochem. 119 (2), 346-353 (1996)
  MEDLINE   97037082
   PUBMED   8882729
REFERENCE   7  (bases 1 to 1982)
  AUTHORS   Kojima,K., Yamamoto,K., Irimura,T., Osawa,T., Ogawa,H. and
            Matsumoto,I.
  TITLE     Characterization of carbohydrate-binding protein p33/41: relation
            with annexin IV, molecular basis of the doublet forms (p33 and
            p41), and modulation of the carbohydrate binding activity by
            phospholipids
  JOURNAL   J. Biol. Chem. 271 (13), 7679-7685 (1996)
  MEDLINE   96205957
   PUBMED   8631806
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M82809.1 and D78152.1.
            On May 13, 1999 this sequence version replaced gi:4502104.
            Summary: Annexin IV (ANX4) belongs to the annexin family of
            calcium-dependent phospholipid binding proteins. Although their
            functions are still not clearly defined, several members of the
            annexin family have been implicated in membrane-related events
            along exocytotic and endocytotic pathways.  ANX4 has 45 to 59%
            identity with other members of its family and shares a similar size
            and exon-intron organization.  Isolated from human placenta, ANX4
            encodes a protein that has possible interactions with ATP, and has
            in vitro anticoagulant activity and also inhibits phospholipase A2
            activity.  ANX4 is almost exclusively expressed in epithelial
            cells.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1982
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13"
     gene            1..1982
                     /gene="ANXA4"
                     /note="ANX4"
                     /db_xref="LocusID:307"
                     /db_xref="MIM:106491"
     CDS             74..1039
                     /gene="ANXA4"
                     /note="placental anticoagulant protein II;
                     carbohydrate-binding protein p33/41; protein PP4-X;
                     annexin IV (placental anticoagulant protein II)"
                     /codon_start=1
                     /product="annexin IV"
                     /protein_id="NP_001144.1"
                     /db_xref="GI:4502105"
                     /db_xref="LocusID:307"
                     /db_xref="MIM:106491"
                     /translation="MAMATKGGTVKAASGFNAMEDAQTLRKAMKGLGTDEDAIISVLA
                     YRNTAQRQEIRTAYKSTIGRDLIDDLKSELSGNFEQVIVGMMTPTVLYDVQELRRAMK
                     GAGTDEGCLIEILASRTPEEIRRISQTYQQQYGRSLEDDIRSDTSFMFQRVLVSLSAG
                     GRDEGNYLDDALVRQDAQDLYEAGEKKWGTDEVKFLTVLCSRNRNHLLHVFDEYKRIS
                     QKDIEQSIKSETSGSFEDALLAIVKCMRNKSAYFAEKLYKSMKGLGTDDNTLIRVMVS
                     RAEIDMLDIRAHFKRLYGKSLYSFIKGDTSGDYRKVLLVLCGGDD"
     misc_feature    134..322
                     /gene="ANXA4"
                     /note="annexin; Region: Annexin"
                     /db_xref="CDD:pfam00191"
     misc_feature    170..328
                     /gene="ANXA4"
                     /note="ANX; Region: Annexin repeats"
                     /db_xref="CDD:ANX"
     misc_feature    347..544
                     /gene="ANXA4"
                     /note="annexin; Region: Annexin"
                     /db_xref="CDD:pfam00191"
     misc_feature    386..544
                     /gene="ANXA4"
                     /note="ANX; Region: Annexin repeats"
                     /db_xref="CDD:ANX"
     misc_feature    596..796
                     /gene="ANXA4"
                     /note="annexin; Region: Annexin"
                     /db_xref="CDD:pfam00191"
     misc_feature    638..796
                     /gene="ANXA4"
                     /note="ANX; Region: Annexin repeats"
                     /db_xref="CDD:ANX"
     misc_feature    821..1021
                     /gene="ANXA4"
                     /note="annexin; Region: Annexin"
                     /db_xref="CDD:pfam00191"
     misc_feature    863..1021
                     /gene="ANXA4"
                     /note="ANX; Region: Annexin repeats"
                     /db_xref="CDD:ANX"
     variation       333
                     /gene="ANXA4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2228203"
     variation       484
                     /gene="ANXA4"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2228202"
     variation       859
                     /gene="ANXA4"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1804121"
     variation       1061
                     /gene="ANXA4"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:15465"
     variation       1078
                     /gene="ANXA4"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3209920"
     variation       1301
                     /gene="ANXA4"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1063504"
     polyA_signal    1964..1969
                     /gene="ANXA4"
                     /note="putative polyA signal"
BASE COUNT      597 a    380 c    421 g    584 t
ORIGIN      
        1 gcagaggagg agcgcacgcc ggcctcgaag aacttctgct tgggtggctg aactctgatc
       61 ttgacctaga gtcatggcca tggcaaccaa aggaggtact gtcaaagctg cttcaggatt
      121 caatgccatg gaagatgccc agaccctgag gaaggccatg aaagggctcg gcaccgatga
      181 agacgccatt attagcgtcc ttgcctaccg caacaccgcc cagcgccagg agatcaggac
      241 agcctacaag agcaccatcg gcagggactt gatagacgac ctgaagtcag aactgagtgg
      301 caacttcgag caggtgattg tggggatgat gacgcccacg gtgctgtatg acgtgcaaga
      361 gctgcgaagg gccatgaagg gagccggcac tgatgagggc tgcctaattg agatcctggc
      421 ctcccggacc cctgaggaga tccggcgcat aagccaaacc taccagcagc aatatggacg
      481 gagccttgaa gatgacattc gctctgacac atcgttcatg ttccagcgag tgctggtgtc
      541 tctgtcagct ggtgggaggg atgaaggaaa ttatctggac gatgctctcg tgagacagga
      601 tgcccaggac ctgtatgagg ctggagagaa gaaatggggg acagatgagg tgaaatttct
      661 aactgttctc tgttcccgga accgaaatca cctgttgcat gtgtttgatg aatacaaaag
      721 gatatcacag aaggatattg aacagagtat taaatctgaa acatctggta gctttgaaga
      781 tgctctgctg gctatagtaa agtgcatgag gaacaaatct gcatattttg ctgaaaagct
      841 ctataaatcg atgaagggct tgggcaccga tgataacacc ctcatcagag tgatggtttc
      901 tcgagcagaa attgacatgt tggatatccg ggcacacttc aagagactct atggaaagtc
      961 tctgtactcg ttcatcaagg gtgacacatc tggagactac aggaaagtac tgcttgttct
     1021 ctgtggagga gatgattaaa ataaaaatcc cagaaggaca ggaggattct caacactttg
     1081 aattttttta acttcatttt tctacactgc tattatcatt atctcagaat gcttatttcc
     1141 aattaaaacg cctacagctg cctcctagaa tatagactgt ctgtattatt attcacctat
     1201 aattagtcat tatgatgctt taaagctgta cttgcatttc aaagcttata agatataaat
     1261 ggagatttta aagtagaaat aaatatgtat tccatgtttt taaaagatta ctttctactt
     1321 tgtgtttcac agacattgaa tatattaaat tattccatat tttcttttca gtgaaaaatt
     1381 ttttaaatgg aagactgttc taaaatcact tttttcccta atccaatttt tagagtggct
     1441 agtagtttct tcatttgaaa ttgtaagcat ccggtcagta agaatgccca tccagttttc
     1501 tatatttcat agtcaaagcc ttgaaagcat ctacaaatct ctttttttag gttttgtcca
     1561 tagcatcagt tgatccttac taagtttttc atgggagact tccttcatca catcttatgt
     1621 tgaaatcact ttctgtagtc aaagtatacc aaaaccaatt tatctgaact aaattctaaa
     1681 gtatggttat acaaaccata tacatctggt taccaaacat aaatgctgaa cattccatat
     1741 tattatagtt aatgtcttaa tccagcttgc aagtgaatgg aaaaaaaaat aagcttcaaa
     1801 ctaggtattc tgggaatgat gtaatgctct gaatttagta tgatataaag aaaacttttt
     1861 tgtgctaaaa atacttttta aaatcaattt tgttgattgt agtaatttct atttgcactg
     1921 tgcctttcaa ctccagaaac attctaagat gtacttggat ttaattaaaa agttcacttt
     1981 gt
//



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1: NM_015638. Homo sapiens chro...[gi:18158415] Links  


LOCUS       C20orf188               3149 bp    mRNA    linear   PRI 09-OCT-2002
DEFINITION  Homo sapiens chromosome 20 open reading frame 188 (C20orf188),
            mRNA.
ACCESSION   NM_015638
VERSION     NM_015638.1  GI:18158415
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3149)
  AUTHORS   Andersson,B., Wentland,M.A., Ricafrente,J.Y., Liu,W. and Gibbs,R.A.
  TITLE     A 'double adaptor' method for improved shotgun library construction
  JOURNAL   Anal. Biochem. 236 (1), 107-113 (1996)
  MEDLINE   96207227
   PUBMED   8619474
REFERENCE   2  (bases 1 to 3149)
  AUTHORS   Yu,W., Andersson,B., Worley,K.C., Muzny,D.M., Ding,Y., Liu,W.,
            Ricafrente,J.Y., Wentland,M.A., Lennon,G. and Gibbs,R.A.
  TITLE     Large-scale concatenation cDNA sequencing
  JOURNAL   Genome Res. 7 (4), 353-358 (1997)
  MEDLINE   97264341
   PUBMED   9110174
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC013144.1.
FEATURES             Location/Qualifiers
     source          1..3149
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.21"
                     /clone="MGC:21388 IMAGE:4475866"
                     /tissue_type="Prostate, adenocarcinoma."
                     /clone_lib="NIH_MGC_91"
                     /lab_host="DH10B"
                     /note="Vector: pCMV-SPORT6"
     gene            1..3149
                     /gene="C20orf188"
                     /note="TRPC4AP; TRRP4AP; dJ756N5.2; DKFZP727M231;
                     DKFZp586C1223"
                     /db_xref="LocusID:26133"
     CDS             4..2397
                     /gene="C20orf188"
                     /note="likely ortholog of mouse transient receptor
                     potential cation channel, subfamily C, member 4 associated
                     protein"
                     /codon_start=1
                     /product="chromosome 20 open reading frame 188 protein"
                     /protein_id="NP_056453.1"
                     /db_xref="GI:18158416"
                     /db_xref="LocusID:26133"
                     /translation="MAAAPVAAGSGAGRGRRSAATVAAWGGWGGRPRPGNILLQLRQG
                     QLTGRGLVRAVQFTETFLTERDKQSKWSGIPQLLLKLHTTSHLHSDFVECQNILKEIS
                     PLLSMEAMAFVTEERKLTQETTYPNTYIFDLFGGVDLLVEILMRPTISIRGQKLKISD
                     EMSKDCLSILYNTCVCTEGVTKRLAEKNDFVIFLFTLMTSKKTFLQTATLIEDILGVK
                     KEMIRLDEVPNLSSLVSNFDQQQLANFCRILAVTISEMDTGNDDKHTLLAKNAQQKKS
                     LSLGPSAAEINQAALLSIPGFVERLCKLATRKVSESTGTASFLQELEEWYTWLDNALV
                     LDALMRVANEESEHNQASIVFPPPGASEENGLPHTSARTQLPQSMKIMHEIMYKLEVL
                     YVLCVLLMGRQRNQVHRMIAEFKLIPGLNNLFDKLIWRKHSASALVLHGHNQNCDCSP
                     DITLKIQFLRLLQSFSDHHENKYLLLNNQELNELSAISLKANIPEVEAVLNTDRSLVC
                     DGKRGLLTRLLQVMKKEPAESSFRFWQARAVESFLRGTTSYADQMFLLKRGLLEHILY
                     CIVDSECKSRDVLQSYFDLLGELMKFNVDAFKRFNKYINTDAKFQVFLKQINSSLVDS
                     NMLVRCVTLSLDRFENQVDMKVAEVLSECRLLAYISQVPTQMSFLFRLINIIHVQTLT
                     QENVSCLNTSLVILMLARRKERLPLYLRLLQRMEHSKKYPGFLLNNFHNLLRFWQQHY
                     LHKDKDSTCLENSSCISFSYWKETVSILLNPDRQSPSALVSYIEEPYMDIDRDFTEE"
     variation       complement(1814)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:14329"
     variation       complement(2762)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:8501"
     variation       complement(2822)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:14206"
     variation       complement(2929)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1058003"
     variation       2988
                     /gene="C20orf188"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:4616"
BASE COUNT      737 a    834 c    833 g    745 t
ORIGIN      
        1 gacatggcgg cggcgccggt agcggctggg tctggagccg gccgagggag acggtcggca
       61 gccacagtgg cggcttgggg cggatggggc ggccggccgc ggcctggtaa cattctgctg
      121 cagctgcggc agggccagct gaccggccgg ggcctggtcc gggcggtgca gttcactgag
      181 acttttttga cggagaggga caaacaatcc aagtggagtg gaattcctca gctgctcctc
      241 aagctgcaca ccaccagcca cctccacagt gactttgttg agtgtcaaaa catcctcaag
      301 gaaatttctc ctcttctctc catggaggct atggcatttg ttactgaaga gaggaaactt
      361 acccaagaaa ccacttatcc aaatacttat atttttgact tgtttggagg tgttgatctt
      421 cttgtagaaa ttcttatgag gcctacgatc tctatccggg gacagaaact gaaaataagt
      481 gatgaaatgt ccaaggactg cttgagtatc ctgtataata cctgtgtctg tacagaggga
      541 gttacaaagc gtttggcaga aaagaatgac tttgtgatct tcctgtttac attgatgaca
      601 agtaagaaga cattcttaca aacagcaacc ctcattgaag atattttggg tgttaaaaag
      661 gaaatgatcc gactagatga agtccccaat ctgagttcct tagtatccaa tttcgatcag
      721 cagcagctcg ctaatttctg ccggattctg gctgtcacca tttcagagat ggatacaggg
      781 aatgatgaca agcacacgct tcttgccaaa aatgctcaac agaagaagag cttgagtttg
      841 gggccttctg cagctgaaat caatcaagcg gcccttctca gcattcctgg ctttgttgag
      901 cggctttgca aactggcgac tcgaaaggtg tcagagtcaa cgggcacagc cagcttcctt
      961 caggagttgg aagagtggta cacatggcta gacaatgctt tggtgctaga tgccctgatg
     1021 cgagtggcca atgaggagtc agagcacaat caagcctcca ttgtgttccc tcctccaggg
     1081 gcttctgagg agaatggcct gcctcacacg tcagccagaa cccagctgcc ccagtcaatg
     1141 aagattatgc atgagatcat gtacaaactg gaagtgctct atgtcctctg cgtgctgctg
     1201 atggggcgtc agcgaaacca ggttcacaga atgattgcag agttcaagct gatccctgga
     1261 cttaataatt tgtttgacaa actgatttgg aggaagcatt cagcatctgc ccttgtcctc
     1321 catggtcaca accagaactg tgactgtagc ccggacatca ccttgaagat acagtttttg
     1381 aggcttcttc agagcttcag tgaccaccac gagaacaagt acttgttact caacaaccag
     1441 gagctgaatg aactcagtgc catctctctc aaggccaaca tccctgaggt ggaagctgtc
     1501 ctcaacaccg acaggagttt ggtgtgtgat gggaagaggg gcttattaac tcgtctgctg
     1561 caggtcatga agaaggagcc agcagagtcg tctttcaggt tttggcaagc tcgggctgtg
     1621 gagagtttcc tccgagggac cacctcctat gcagaccaga tgttcctgct gaagcgaggc
     1681 ctcttggagc acatccttta ctgcattgtg gacagcgagt gtaagtcaag ggatgtgctc
     1741 cagagttact ttgacctcct gggggagctg atgaagttca acgttgatgc attcaagaga
     1801 ttcaataaat atatcaacac cgatgcaaag ttccaggtat tcctgaagca gatcaacagc
     1861 tccctggtgg actccaacat gctggtgcgc tgtgtcactc tgtccctgga ccgatttgaa
     1921 aaccaggtgg atatgaaagt tgccgaggta ctgtctgaat gccgcctgct cgcctacata
     1981 tcccaggtgc ccacgcagat gtccttcctc ttccgcctca tcaacatcat ccacgtgcag
     2041 acgctgaccc aggagaacgt cagctgcctc aacaccagcc tggtgatcct gatgctggcc
     2101 cgacggaaag agcggctgcc cctgtacctg cggctgctgc agcggatgga gcacagcaag
     2161 aagtaccccg gcttcctgct caacaacttc cacaacctgc tgcgcttctg gcagcagcac
     2221 tacctgcaca aggacaagga cagcacctgc ctagagaaca gctcctgcat cagcttctca
     2281 tactggaagg agacagtgtc catcctgttg aacccggacc ggcagtcacc ctctgctctc
     2341 gttagctaca ttgaggagcc ctacatggac atagacaggg acttcactga ggagtgacct
     2401 tgggccaggc ctcgggaggc tgctgggcca gtgtgggtga gcgtgggtac gatgccacac
     2461 gccctgccct gttcccgttc ctccctgctg ctctctgcct gccccaggtc tttgggtaca
     2521 ggcttggtgg gagggaagtc ctagaagccc ttggtccccc tgggtctgag ggccctaggt
     2581 catggagagc ctcagtcccc ataatgagga cagggtacca tgcccacctt tccttcagaa
     2641 ccctggggcc cagggccacc cagaggtaag aggacattta gcattagctc tgtgtgagct
     2701 cctgccggtt tcttggctgt cagtcagtcc cagagtgggg aggaagatat gggtgacccc
     2761 caccccccat ctgtgagcca agcctccctt gtccctggcc tttggaccca ggcaaaggct
     2821 tctgagccct gggcaggggt ggtgggtacc agagaatgct gccttccccc aagcctgccc
     2881 ctctgcctca ttttcctgta gctcctctgg ttctgtttgc tcattggctg ctgtgttcat
     2941 ccaagggggt tctcccagaa gtgaggggcc tttccctcca tcccttgagg cacggggcag
     3001 ctgtgcctgc cctgcctctg cctgaggcag ccgctcctgc ctgagcctgg acatggggcc
     3061 cttccttgtg ttgccaattt attaacagca aataaaccaa ttaaatggag actattaaat
     3121 aactttattt taaaaaaaaa aaaaaaaaa
//



Revised: July 5, 2002.
 
 


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1: NM_006452. Homo sapiens phos...[gi:17388802] Links  


LOCUS       PAICS                   3322 bp    mRNA    linear   PRI 20-OCT-2002
DEFINITION  Homo sapiens phosphoribosylaminoimidazole carboxylase,
            phosphoribosylaminoimidazole succinocarboxamide synthetase (PAICS),
            mRNA.
ACCESSION   NM_006452
VERSION     NM_006452.2  GI:17388802
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3322)
  AUTHORS   Minet,M. and Lacroute,F.
  TITLE     Cloning and sequencing of a human cDNA coding for a multifunctional
            polypeptide of the purine pathway by complementation of the
            ade2-101 mutant in Saccharomyces cerevisiae
  JOURNAL   Curr. Genet. 18 (4), 287-291 (1990)
  MEDLINE   91070616
   PUBMED   2253271
REFERENCE   2  (bases 1 to 3322)
  AUTHORS   Barton,J.W., Hart,I.M. and Patterson,D.
  TITLE     Mapping of a locus correcting lack of phosphoribosylaminoimidazole
            carboxylase activity in Chinese hamster ovary cell Ade-D mutants to
            human chromosome 4
  JOURNAL   Genomics 9 (2), 314-321 (1991)
  MEDLINE   91169536
   PUBMED   2004782
REFERENCE   3  (bases 1 to 3322)
  AUTHORS   Brayton,K.A., Chen,Z., Zhou,G., Nagy,P.L., Gavalas,A., Trent,J.M.,
            Deaven,L.L., Dixon,J.E. and Zalkin,H.
  TITLE     Two genes for de novo purine nucleotide synthesis on human
            chromosome 4 are closely linked and divergently transcribed
  JOURNAL   J. Biol. Chem. 269 (7), 5313-5321 (1994)
  MEDLINE   94148998
   PUBMED   8106516
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC010273.1.
            On Dec 6, 2001 this sequence version replaced gi:5453538.
FEATURES             Location/Qualifiers
     source          1..3322
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4pter-q21"
                     /clone="MGC:5024 IMAGE:2900848"
                     /tissue_type="Placenta, choriocarcinoma"
                     /clone_lib="NIH_MGC_10"
                     /lab_host="DH10B"
                     /note="Vector: pCMV-SPORT6"
     gene            1..3322
                     /gene="PAICS"
                     /note="AIRC; PAIS; ADE2H1"
                     /db_xref="LocusID:10606"
                     /db_xref="MIM:172439"
     CDS             206..1483
                     /gene="PAICS"
                     /EC_number="6.3.2.6"
                     /EC_number="4.1.1.21"
                     /note="phosphoribosylaminoimidazole carboxylase,
                     phosphoribosylaminoribosylaminoimidazole
                     succinocarboxamide synthetase"
                     /codon_start=1
                     /product="phosphoribosylaminoimidazole carboxylase,
                     phosphoribosylaminoimidazole succinocarboxamide
                     synthetase"
                     /protein_id="NP_006443.1"
                     /db_xref="GI:5453539"
                     /db_xref="LocusID:10606"
                     /db_xref="MIM:172439"
                     /translation="MATAEVLNIGKKLYEGKTKEVYELLDSPGKVLLQSKDQITAGNA
                     ARKNHLEGKAAISNKITSCIFQLLQEAGIKTAFTRKCGETAFIAPQCEMIPIEWVCRR
                     IATGSFLKRNPGVKEGYKFYPPKVELFFKDDANNDPQWSEEQLIAAKFCFAGLLIGQT
                     EVDIMSHATQAIFEILEKSWLPQNCTLVDMKIEFGVDVTTKEIVLADVIDNDSWRLWP
                     SGDRSQQKDKQSYRDLKEVTPEGLQMVKKNFEWVAERVELLLKSESQCRVVVLMGSTS
                     DLGHCEKIKKACGNFGIPCELRVTSAHKGPDETLRIKAEYEGDGIPTVFVAVAGRSNG
                     LGPVMSGNTAYPVISCPPLTPDWGVQDVWSSLRLPSGLGCSTVLSPEGSAQFAAQIFG
                     LSNHLVWSKLRASILNTWISLKQADKKIRECNL"
     misc_feature    230..964
                     /gene="PAICS"
                     /note="SAICAR_synt; Region: SAICAR synthetase. Also known
                     as Phosphoribosylaminoimidazole-succinocarboxamide
                     synthase"
                     /db_xref="CDD:pfam01259"
     misc_feature    1001..1465
                     /gene="PAICS"
                     /note="Region: AIR carboxylase. Members of this family
                     catalyse the decarboxylation of
                     1-(5-phosphoribosyl)-5-amino-4-imidazole-carboxylate
                     (AIR). This family catalyse the sixth step of de novo
                     purine biosynthesis. Some members of this family contain
                     two copies of this domain"
                     /db_xref="CDD:pfam00731"
     variation       complement(884)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1866280"
     variation       3184
                     /gene="PAICS"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:6584"
BASE COUNT      960 a    721 c    683 g    958 t
ORIGIN      
        1 gaaagctgta tttgctgcac gtggaaatct ccgttatttt ccagcaccca acagtagcgt
       61 aatgggagta acggacttaa cctcatttct ctttcagagc atttagcctt catatgccct
      121 tccctgcatg cttcccccag gccgtcaaga cttgagttct gcctcgcttc ccggcgcggt
      181 cgcagccctc agcccactta ggataatggc gacagctgag gtactgaaca ttggtaaaaa
      241 attatatgag ggtaaaacaa aagaagtcta cgaattgtta gacagtccag gaaaagtcct
      301 cctgcagtcc aaggaccaga ttacagcagg aaatgcagct agaaaaaacc acctggaagg
      361 aaaagctgca atctcaaata aaatcaccag ttgtattttt cagttattac aggaagcagg
      421 tattaaaact gccttcacca gaaaatgtgg ggagacagct ttcattgcac cgcagtgtga
      481 aatgattcca attgaatggg tttgcagaag aatagcaact ggttcttttc tcaaaagaaa
      541 tcctggtgtc aaggaaggat ataagtttta cccacctaaa gtggagttgt ttttcaagga
      601 tgatgccaat aatgacccac agtggtctga ggaacagctg attgctgcaa aattttgctt
      661 tgctggactt cttataggcc agactgaagt ggatatcatg agtcatgcta cacaggctat
      721 atttgaaata ctggagaaat cctggttgcc ccagaattgt acactggttg atatgaagat
      781 tgaatttggt gttgatgtaa ccaccaaaga aattgttctt gctgatgtta ttgacaatga
      841 ttcctggaga ctctggccat caggagatcg aagccaacag aaagacaaac agtcttatcg
      901 ggacctcaaa gaagtaactc ctgaagggct ccaaatggta aagaaaaact ttgagtgggt
      961 tgcagagaga gtagagttgc ttttgaaatc agaaagtcag tgcagggttg tagtgttgat
     1021 gggctctact tctgatcttg gtcactgtga aaaaatcaag aaggcctgtg gaaattttgg
     1081 cattccatgt gaacttcgag taacatctgc gcataaagga ccagatgaaa ctctgaggat
     1141 taaagctgag tatgaagggg atggcattcc tactgtattt gtggcagtgg caggcagaag
     1201 taatggtttg ggaccagtga tgtctgggaa cactgcatat ccagttatca gctgtcctcc
     1261 cctcacacca gactggggag ttcaggatgt gtggtcttct cttcgactac ccagtggtct
     1321 tggctgttca accgtacttt ctccagaagg atcagctcaa tttgctgctc agatatttgg
     1381 gttaagcaac catttggtat ggagcaaact gcgagcaagc attttgaaca catggatttc
     1441 cttgaagcag gctgacaaga aaatcagaga atgtaattta taagaaagaa tgccattgaa
     1501 ttttttaggg gaaaaactac aaatttctaa tttagctgaa ggaaaatcaa gcaagatgaa
     1561 aaggtaattt taaattagag aacacaaata aaatgtatta gtgaataaat gcttctctag
     1621 atccatatta ataaacatga gcatctaacc cctcctttct taggctagac accaagatat
     1681 ttcagccagc ctttatcatt cctcttactt tatccttttt ccttaagtat tggtggtcac
     1741 tactattgag tttcttcctt aacactgatt aaatgatctt aactccctca gctaaaactg
     1801 gcattactga ctcccagcta tatttctcca gacttgcatt tttttttttt tttttgagac
     1861 agggtctcac tgtcgcccag gctggagtgc agtggcgtga tctcagttca ctgctgcttt
     1921 ccctcctggg ctcaagcagt tctcccacct cagcctctcg actaacaggg actataatct
     1981 tgcagcacca tgccgagcta attttatttt ttgtagagat gagctctcac tatgtcaccc
     2041 aggttcgtct caaactcctg aaccctagta attctcctat ctcagcctcc caaagtgcta
     2101 gggttacaga catgagccac tgtgcctgtc tagacttgta ctttcaactg tccatttctc
     2161 cctgtctgtc ccatgggcac tcatgaaaaa acagaatgct cccaacttta ttcatcttcc
     2221 aagcctgtag ctcttggtat actcactgtt gcaagtcaga agcttgattt catcattgat
     2281 gtttttctca cgtttcacat ctcactcatc accaagtcat gttggtgtta atttctgatt
     2341 aacccttgaa tttaccgtct tctcatcctc tgtacaaaag cctcaagtga gggtcaaatt
     2401 caacattatc ctgatctaga cagcccccat tctcaatcca cccttttcca agttgattgc
     2461 ccaaggactt ctaacaataa actctctttt gcaccacaga cttctttgaa aatatacatg
     2521 ctgttgaccc tctctgtaga aaaccgcaca cataaaactt accaacagat ttcattggtt
     2581 cttgggttct cccgaagcct atccatggtt tatagattaa gaattgatga ggtagctggg
     2641 cacagtggct cacacctacg atcacagcac ttcgggaggc tgaagcaagc agatcacttg
     2701 aggtcaggag tttgagacca gcctggccaa catggtgaaa ccctgtctct actaaaaata
     2761 caaaaagtag ccagccgtga tgacaggcac ctgtaatccc agctactcgg gaggctgagg
     2821 catgagaatt gcttgaaccc gggaggcgga ggttgcagtg agcctggatc atgccactgc
     2881 actccaacct gggcagcaga gcaagactct gtctcaaaag gggaaaaaaa aaattgctga
     2941 tgtgacccat gaagggaact cattttcctc gtaattttgg actgccacac attggtacct
     3001 ttagttctct gaaggcccac gtttttatca ttaagaccta tttgttagct agtagagctt
     3061 tatgttcgct gtccatgaaa ccttctgtaa ccacagtgac tacaagtagt tctttctcta
     3121 ttgaattatt aggtccagaa tagaagatgt cattgtacac tttatttccc tcacactgtg
     3181 ttatgctctg atgtgctatg cttagctatc tgtcagagat tagtaaatta taaaactcat
     3241 gtgtactact taagtttata tcttatgcta gtttataaga acaattaaaa ggacttagaa
     3301 gattaaaaaa aaaaaaaaaa aa
//



Revised: July 5, 2002.
 
 


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1: NM_005311. Homo sapiens grow...[gi:19923302] Links  


LOCUS       GRB10                   5431 bp    mRNA    linear   PRI 04-APR-2002
DEFINITION  Homo sapiens growth factor receptor-bound protein 10 (GRB10), mRNA.
ACCESSION   NM_005311
VERSION     NM_005311.2  GI:19923302
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5431)
  AUTHORS   Ohara,O., Nagase,T., Kikuno,R. and Nomura,N.
  TITLE     Homo sapiens growth factor receptor-bound protein 10 (GRB10), mRNA
  JOURNAL   Unpublished (1996)
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from D86962.1.
            On Apr 4, 2002 this sequence version replaced gi:4885352.
FEATURES             Location/Qualifiers
     source          1..5431
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p12-p11.2"
                     /sex="male"
                     /cell_line="KG-1"
                     /cell_type="myeloblast"
     gene            1..5431
                     /gene="GRB10"
                     /note="RSS; IRBP; KIAA0207"
                     /db_xref="LocusID:2887"
                     /db_xref="MIM:601523"
     CDS             782..2548
                     /gene="GRB10"
                     /codon_start=1
                     /product="growth factor receptor-bound protein 10"
                     /protein_id="NP_005302.2"
                     /db_xref="GI:19923303"
                     /db_xref="LocusID:2887"
                     /db_xref="MIM:601523"
                     /translation="MQAAGPLFRSKDKVEQTPRSQQDPAGPGLPAQSDRLANHQEDDV
                     DLEALVNDMNASLESLYSACSMQSDTVPLLQNGQHARSQPRASGPPRSIQPQVSPRQR
                     VQRSQPVHILAVRRLQEEDQQFRTSSLPAIPNPFPELCGPGSPAVLTPGSLPPSQAAA
                     KQDVKVFSEDGTSKVVEILADMTARDLCQLLVYKSHCVDDNSWTLVEHHPHLGLERCL
                     EDHELVVQVESTMASESKFLFRKNYAKYEFFKNPMNFFPEQMVTWCQQSNGSQTQLLQ
                     NFLNSSSCPEIQGFLHVKELGKKSWKKLYVCLRRSGLYCSTKGTSKEPRHLQLLADLE
                     DSNIFSLIAGRKQYNAPTDHGLCIKPNKVRNETKELRLLCAEDEQTRTCWMTAFRLLK
                     YGMLLYQNYRIPQQRKALLSPFSTPVRSVSENSLVAMDFSGQTGRVIENPAEAQSAAL
                     EEGHAWRKRSTRMNILGSQSPLHPSTLSTVIHRTQHWFHGRISREESHRIIKQQGLVD
                     GLFLLRDSQSNPKAFVLTLCHHQKIKNFQILPCEDDGQTFFSLDDGNTKFSDLIQLVD
                     FYQLNKGVLPCKLKHHCIRVAL"
     misc_feature    1271..1513
                     /gene="GRB10"
                     /note="RA; Region: Ras association (RalGDS/AF-6) domain"
                     /db_xref="CDD:smart00314"
     misc_feature    1271..1510
                     /gene="GRB10"
                     /note="B41; Region: Band 4.1 homologues"
                     /db_xref="CDD:smart00295"
     misc_feature    1634..1960
                     /gene="GRB10"
                     /note="PH; Region: PH domain"
                     /db_xref="CDD:pfam00169"
     misc_feature    1634..1948
                     /gene="GRB10"
                     /note="PH; Region: Pleckstrin homology domain."
                     /db_xref="CDD:smart00233"
     misc_feature    2234..2497
                     /gene="GRB10"
                     /note="SH2; Region: Src homology 2 domains"
                     /db_xref="CDD:smart00252"
     misc_feature    2240..2485
                     /gene="GRB10"
                     /note="SH2; Region: SH2 domain"
                     /db_xref="CDD:pfam00017"
     variation       1510
                     /gene="GRB10"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1800505"
     variation       2793
                     /gene="GRB10"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3807551"
BASE COUNT     1306 a   1385 c   1395 g   1345 t
ORIGIN      
        1 ggcagccggg cgccccgcgg ggctctccgc gctgcgttcc cgacccctgg ggggaggtgt
       61 ggagtccaag cggtgcattc ttgaaccatc ttgtcagacg ccggcggctc gcgggctgtg
      121 gcgggggctg cggtcaaggc cgcgctcctg ggggccgccg cctgggaggg tgggcgccca
      181 ggcgtccctg cagccccggg tgctccgact gcgcggcggg gccgcggcgc gcgcgcccgg
      241 gcgtccgggc gtccgggaca gtggtgccag acactcccaa atcccgagcc ggcccagcct
      301 cgtacggagg accttttttt tggttctgtt ggtgacccgt tagccgccgc tggggcctaa
      361 caccaagttg agggctcgcg gattagccgc ccgccagccg tggaaatgtg ataagagcgg
      421 taccgtttgc agaaggaaat ttctgatgca actcttcgcc tttgctgatt gcctctccaa
      481 acgcctgcct gacgactgcc ttggagcatg tgcgttatgg aaattaggct ttggcgctga
      541 ccacaatgct gagcaggaag cagcagctgc aggcccagtg actggtagct cagtgaccag
      601 cagcccagtg accggcagcc aggtcctcac ctgggtcctc tcagtgaagc cagggtggcc
      661 gccccagcag acagtgctac agagccaact cctgacaggt tctgaaaata ttgtgcacag
      721 ggcaggctga ggacacagcc acgtgatacc cactgtagag agagggagag agagacctcc
      781 tatgcaagct gccggccctc tgttccgtag taaggacaag gtggagcaga cacctcgcag
      841 tcaacaagac ccggcaggac caggactccc cgcacagtct gaccgacttg cgaatcacca
      901 ggaggatgat gtggacctgg aagccctggt gaacgatatg aatgcatccc tggagagcct
      961 gtactcggcc tgcagcatgc agtcagacac ggtgcccctc ctgcagaatg gccagcatgc
     1021 ccgcagccag cctcgggctt caggccctcc tcggtccatc cagccacagg tgtccccgag
     1081 gcagagggtg cagcgctccc agcctgtgca catcctcgct gtcaggcgcc ttcaggagga
     1141 agaccagcag tttagaacct catctctgcc ggccatcccc aatccttttc ctgaactctg
     1201 tggccctggg agccccgctg tgctcacgcc gggttcttta cctccgagcc aggccgccgc
     1261 aaagcaggat gttaaagtct ttagtgaaga tgggacaagc aaagtggtgg agattctagc
     1321 agacatgaca gccagagacc tgtgccaatt gctggtttac aaaagtcact gtgtggatga
     1381 caacagctgg acactagtgg agcaccaccc gcacctagga ttagagaggt gcttggaaga
     1441 ccatgagctg gtggtccagg tggagagtac catggccagt gagagtaaat ttctattcag
     1501 gaagaattac gcaaaatacg agttctttaa aaatcccatg aatttcttcc cagaacagat
     1561 ggttacttgg tgccagcagt caaatggcag tcaaacccag cttttgcaga attttctgaa
     1621 ctccagtagt tgtcctgaaa ttcaagggtt tttgcatgtg aaagagctgg gaaagaaatc
     1681 atggaaaaag ctgtatgtgt gtttgcggag atctggcctt tattgctcca ccaagggaac
     1741 ttcaaaggaa cccagacacc tgcagctgct ggccgacctg gaggacagca acatcttctc
     1801 cctgatcgct ggcaggaagc agtacaacgc ccctacagac cacgggctct gcataaagcc
     1861 aaacaaagtc aggaatgaaa ctaaagagct gaggttgctc tgtgcagagg acgagcaaac
     1921 caggacgtgc tggatgacag cgttcagact cctcaagtat ggaatgctcc tttaccagaa
     1981 ttaccgaatc cctcagcaga ggaaggcctt gctgtccccg ttctcgacgc cagtgcgcag
     2041 tgtctccgag aactccctcg tggcaatgga tttttctggg caaacaggac gcgtgataga
     2101 gaatccggcg gaggcccaga gcgcagccct ggaggagggc cacgcctgga ggaagcgaag
     2161 cacacggatg aacatcctag gtagccaaag tcccctccac ccttctaccc taagtacagt
     2221 gattcacagg acacagcact ggtttcacgg gaggatctcc agggaggaat cccacaggat
     2281 cattaaacag caagggctcg tggatgggct ttttctcctc cgtgacagcc agagtaatcc
     2341 aaaggcattt gtactcacac tgtgtcatca ccagaaaatt aaaaatttcc agatcttacc
     2401 ttgcgaggac gacgggcaga cgttcttcag cctagatgac gggaacacca aattctctga
     2461 cctgatccag ctggttgact tttaccagct gaacaaagga gtcctgcctt gcaaactcaa
     2521 gcaccactgc atccgagtgg ccttatgacc gcagatgtcc tctcggctga agactggagg
     2581 aagtgaacac tggagtgaag aagcggtctg tgcgttggtg aagaacacac atcgattctg
     2641 cacctgggga cccagagcga gatgggtttg ttcggtgcca gccgaccaag attgactagt
     2701 ttgttggact taaacgacga tttgctgctg tgaacccagc agggtcgcct ccctctgcgt
     2761 cagccaaatt ggggagggca tggaagatcc agcggaaagt tgaaaataaa ctggaatgat
     2821 catcttggct tgggccgctt aggaacaaga accggagaga agtgattgga aatgaactct
     2881 tgccctggaa taatcttgac aattaaaact gatatgttta ctttttttgt attgatcact
     2941 tttttgcact ccttctttgt tttcaatatt gtattcagcc tattgtagga gggggatgtg
     3001 gcgtttcaac tcatataata cagaaagagt tttgaatggg cagatttcaa actgaatatg
     3061 ggtccccaaa tgttcccaga gggtcctcca caccctctgc cgactaccac ggtgtggatt
     3121 cagctcccaa atgacaaacc cagcccttcc cagtatactt gaaaagcttt cttgttaaaa
     3181 taaaaggtgt cactgtggta ggcatttggc atattttgtg gactcagtca agcaaccaca
     3241 gtctgttaat catttctcta tgctcagatg tcagatcctc ttgttattag tgtgtcttgt
     3301 tctgcacagt gcaggagact ttattccttt ggaaaattca ctgttccaca aacagcaggc
     3361 tgaatggcct cgcctctaga ttgacgtggg ccagcctcct tgagacacac ctggcacccg
     3421 tcatcggcca gcggtggatg ctgcataatc cacctgggta cttcagcctt gcgtttccac
     3481 agccttcagc ctgttctaga acgatcactg ccttacccct gctgctgcag tggtgtgagt
     3541 cgtttcacgg ctgatgtccc tcgggggatt aaaggatcta aagagaaaat ggcacctggt
     3601 tgtcttcgtg ctgtgtctca tgggtttcca tagtgataaa gacaaggaaa cgctgcaggg
     3661 gccacaggca caggctgata tttaaagatc tttgcttgca gccctccgtc ctgctgaaaa
     3721 cccccataag ccagtgaaca cagagcagct agaggctcct cctctgctgg cttagggtca
     3781 gaagtacctc acagtggttg tggacatgga agagttttgt caacacaaca ctttgtcccc
     3841 gctccgggag atgagtcaga tggtggcttg agttgtcact tggtcccctc cgcccctcgg
     3901 gtggccccct ttgccacgtc cccttagctt agtgatcagg tgtgagagtg gccatttcct
     3961 tacctttgat ccctgtaaag cagaaaggac tcctttgaca ggcgacaaac tactgtggtg
     4021 agcagaatga tttccttttt caagacaaca cctgcctggc ttctattaat gtgtgctggc
     4081 catgatattg ccccaaatcc gccccactga agtgttccct aaggaacagc atttctctgc
     4141 tcctcagtca acccccgtag cctagagcag tgtcacaagc ttcagtaagg ccagtcagct
     4201 ggaagtcagt ctaccgtata gtaacactgt atttcagtct acagaccaca ctctagttgt
     4261 tttccatgaa aggtatacaa atgaagaatt ttctagcaaa acatgttttt aaccatcagt
     4321 gctcaattgc attttcttcc tttcgcagcc agtcagtctt tcaaactatt gacagtaaga
     4381 taattctcac gttcacacct ggtggcaggc ttcactgtag ggacggacat tgcagttaca
     4441 ccacgattcc ttcctcttca ctggctcgag gtaaaccctt ttcaaggaaa aacaactcta
     4501 ggatttcttt tttctgtgta cgtagaccag tcccatcagt gtataatctc tctctcacac
     4561 gcctctctcc aatagacagc ttgtatttgc agtatttcat atttataaat atgcgtttat
     4621 ttaaaaggag aacaaaagct tgactctgat tcacagtttt gtatgtagct ggtttgacgt
     4681 agtcttttgt attttccctg ccgaagtgaa ttgttggaga atgtaaaccg cctccacgtg
     4741 gcggcagact tcctaaggcc ccagctcgct ggcctcgcgc tgggcggctg ggaattccac
     4801 ctgagaacaa gtcccgcaaa ccggggacgg aaggacattt gacttttatt tttgtattta
     4861 attgacatga atgtaaaggg gacagctcag ggttgttttg gagcctgttg actttgtatc
     4921 tctgcctgtg attttctttt ctaaatgaaa ctccatgtag caaccaggac gaagttgaga
     4981 aggaaaacgc caaatgcttt ggttattaga gtttaatagg taagctctgt tacactaggt
     5041 gttagagttc cagaatgttc ttttgtttgc taaaccttga agaaacatgt gcctcagcct
     5101 agatgttttg tcttctcttt tctgcactta atacctgaca gtatgaccga tctctgcgcc
     5161 tttctggggg cgggcaagct ggcggtagat ttgtgatgtc acagtgcaaa ctgcagtgac
     5221 tgtaaattgg cctggcgtgt ataaacgttt tcagggaatg cagaaggtat taatgaagag
     5281 acaaaacctt tattccatgt gctttgcttc attctgtaca tagctctttg gctcgtgaac
     5341 ctaattgtaa actttcaggt atttttgtac aaataaggga ctgatgttct gtttcttgta
     5401 attagaaata aacattaata cagtgttctt c
//



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1: NM_000661. Homo sapiens ribo...[gi:15431302] Links  


LOCUS       RPL9                     716 bp    mRNA    linear   PRI 04-SEP-2001
DEFINITION  Homo sapiens ribosomal protein L9 (RPL9), mRNA.
ACCESSION   NM_000661
VERSION     NM_000661.2  GI:15431302
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 716)
  AUTHORS   Hori,N., Murakawa,K., Matoba,R., Fukushima,A., Okubo,K. and
            Matsubara,K.
  TITLE     A new human ribosomal protein sequence, homologue of rat L9
  JOURNAL   Nucleic Acids Res. 21 (18), 4395 (1993)
  MEDLINE   94021394
   PUBMED   8415001
REFERENCE   2  (bases 1 to 716)
  AUTHORS   Wool,I.G., Chan,Y.L. and Gluck,A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem. Cell Biol. 73 (11-12), 933-947 (1995)
  MEDLINE   96282697
   PUBMED   8722009
  REMARK    This reference focuses primarily on rat ribosomal proteins, but it
            compares them to human ribosomal proteins.
REFERENCE   3  (bases 1 to 716)
  AUTHORS   Mazuruk,K., Schoen,T.J., Chader,G.J., Iwata,T. and Rodriguez,I.R.
  TITLE     Structural organization and chromosomal localization of the human
            ribosomal protein L9 gene
  JOURNAL   Biochim. Biophys. Acta 1305 (3), 151-162 (1996)
  MEDLINE   96180319
   PUBMED   8597601
REFERENCE   4  (bases 1 to 716)
  AUTHORS   Kenmochi,N., Kawaguchi,T., Rozen,S., Davis,E., Goodman,N.,
            Hudson,T.J., Tanaka,T. and Page,D.C.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res. 8 (5), 509-523 (1998)
  MEDLINE   98248690
   PUBMED   9582194
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U09953.1 and BG829769.1.
            On Sep 5, 2001 this sequence version replaced gi:4506664.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L6P family of ribosomal proteins. It is located in the
            cytoplasm. As is typical for genes encoding ribosomal proteins,
            there are multiple processed pseudogenes of this gene dispersed
            through the genome.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..716
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p13"
     gene            1..716
                     /gene="RPL9"
                     /db_xref="LocusID:6133"
                     /db_xref="MIM:603686"
     CDS             29..607
                     /gene="RPL9"
                     /note="60S ribosomal protein L9"
                     /codon_start=1
                     /product="ribosomal protein L9"
                     /protein_id="NP_000652.2"
                     /db_xref="GI:15431303"
                     /db_xref="LocusID:6133"
                     /db_xref="MIM:603686"
                     /db_xref="LocusID:6133"
                     /db_xref="MIM:603686"
                     /translation="MKTILSNQTVDIPENVDITLKGRTVIVKGPRGTLRRDFNHINVE
                     LSLLGKKKKRLRVDKWWGNRKELATVRTICSHVQNMIKGVTLGFRYKMRSVYAHFPIN
                     VVIQENGSLVEIRNFLGEKYIRRVRMRPGVACSVSQAQKDELILEGNDIELVSNSAAL
                     IQQATTVKNKDIRKFLDGIYVSEKGTVQQADE"
     misc_feature    62..598
                     /gene="RPL9"
                     /note="Ribosomal_L6; Region: Ribosomal protein L6"
                     /db_xref="CDD:pfam00347"
     variation       341
                     /gene="RPL9"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2033443"
     variation       357
                     /gene="RPL9"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1802630"
     variation       394
                     /gene="RPL9"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1065744"
     variation       483
                     /gene="RPL9"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1802629"
     variation       521
                     /gene="RPL9"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3209875"
     variation       611
                     /gene="RPL9"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1061426"
     polyA_signal    684..689
                     /gene="RPL9"
                     /evidence=experimental
     polyA_site      705
                     /gene="RPL9"
                     /evidence=experimental
     polyA_site      711
                     /gene="RPL9"
                     /evidence=experimental
     polyA_site      716
                     /gene="RPL9"
                     /evidence=experimental
BASE COUNT      219 a    137 c    167 g    193 t
ORIGIN      
        1 ttctttcttt gctgcgtcta ctgcgagaat gaagactatt ctcagcaatc agactgtcga
       61 cattccagaa aatgtcgaca ttactctgaa gggacgcaca gttatcgtga agggccccag
      121 aggaaccctg cggagggact tcaatcacat caatgtagaa ctcagccttc ttggaaagaa
      181 aaaaaagagg ctccgggttg acaaatggtg gggtaacaga aaggaactgg ctaccgttcg
      241 gactatttgt agtcatgtac agaacatgat caagggtgtt acactgggct tccgttacaa
      301 gatgaggtct gtgtatgctc acttccccat caacgttgtt atccaggaga atgggtctct
      361 tgttgaaatc cgaaatttct tgggtgaaaa atacatccgc agggttcgga tgagaccagg
      421 tgttgcttgt tcagtatctc aagcccagaa agatgaatta atccttgaag gaaatgacat
      481 tgagcttgtt tcaaattcag cggctttgat tcagcaagcc acaacagtta aaaacaagga
      541 tatcaggaaa tttttggatg gtatctatgt ctctgaaaaa ggaactgttc agcaggctga
      601 tgaataagat ctaagagtta cctggctaca gaaagaagat gccagatgac acttaagacc
      661 tacttgtgat atttaaatga tgcaataaaa gacctattga tttggacctt cttctt
//



Revised: July 5, 2002.
 
 


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1: NM_002937. Homo sapiens ribo...[gi:20070170] Links  


LOCUS       RNASE4                  1414 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens ribonuclease, RNase A family, 4 (RNASE4), mRNA.
ACCESSION   NM_002937
VERSION     NM_002937.2  GI:20070170
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1414)
  AUTHORS   Seno,M., Futami,J., Tsushima,Y., Akutagawa,K., Kosaka,M., Tada,H.
            and Yamada,H.
  TITLE     Molecular cloning and expression of human ribonuclease 4 cDNA
  JOURNAL   Biochim. Biophys. Acta 1261 (3), 424-426 (1995)
  MEDLINE   95260866
   PUBMED   7742370
REFERENCE   2  (bases 1 to 1414)
  AUTHORS   Rosenberg,H.F. and Dyer,K.D.
  TITLE     Human ribonuclease 4 (RNase 4): coding sequence, chromosomal
            localization and identification of two distinct transcripts in
            human somatic tissues
  JOURNAL   Nucleic Acids Res. 23 (21), 4290-4295 (1995)
  MEDLINE   96091174
   PUBMED   7501448
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC015520.1.
            On Apr 8, 2002 this sequence version replaced gi:4506556.
FEATURES             Location/Qualifiers
     source          1..1414
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.1"
                     /clone="MGC:9306 IMAGE:3905439"
                     /tissue_type="Pancreas, epithelioid carcinoma"
                     /clone_lib="NIH_MGC_70"
                     /lab_host="DH10B"
                     /note="Vector: pCMV-SPORT6"
     gene            1..1414
                     /gene="RNASE4"
                     /note="RNS4"
                     /db_xref="LocusID:6038"
                     /db_xref="MIM:601030"
     CDS             173..616
                     /gene="RNASE4"
                     /codon_start=1
                     /product="ribonuclease, RNase A family, 4"
                     /protein_id="NP_002928.1"
                     /db_xref="GI:4506557"
                     /db_xref="LocusID:6038"
                     /db_xref="MIM:601030"
                     /translation="MALQRTHSLLLLLLLTLLGLGLVQPSYGQDGMYQRFLRQHVHPE
                     ETGGSDRYCNLMMQRRKMTLYHCKRFNTFIHEDIWNIRSICSTTNIQCKNGKMNCHEG
                     VVKVTDCRDTGSSRAPNCRYRAIASTRRVVIACEGNPQVPVHFDG"
     misc_feature    257..613
                     /gene="RNASE4"
                     /note="Region: pfam00074, rnaseA, Pancreatic ribonuclease.
                     Ribonucleases. Members include pancreatic RNAase A and
                     angiogenins. Structure is an alpha+beta fold -- long
                     curved beta sheet and three helices"
     misc_feature    257..613
                     /gene="RNASE4"
                     /note="Region: smart00092, RNAse_Pc, Pancreatic
                     ribonuclease"
     variation       218
                     /gene="RNASE4"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3748338"
     variation       697
                     /gene="RNASE4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3094"
BASE COUNT      402 a    297 c    298 g    417 t
ORIGIN      
        1 cgccaacccc acctagatgc aaagcaggat tcaaaagaac atctttgcgt tttctaccgg
       61 ctccccatca tcgtactagg gaggaagaag cgggtgagaa acaaaacttc tttccattgt
      121 cctgcccgtt tctgcggact tgttctgagg ccgaggcacc tctaagatac tgatggctct
      181 gcagaggacc cattcattgc ttctgctttt gctgctgacc ctgctggggc tggggctggt
      241 ccagccctcc tatggccagg atggcatgta ccagcgattc ctgcggcaac acgtgcaccc
      301 tgaggagaca ggtggcagtg atcgctactg caacttgatg atgcaaagac ggaagatgac
      361 tttgtatcac tgcaagcgct tcaacacctt catccatgaa gatatctgga acattcgtag
      421 tatctgcagc accaccaata tccaatgcaa gaacggcaag atgaactgcc atgagggtgt
      481 agtgaaggtc acagattgca gggacacagg aagttccagg gcacccaact gcagatatcg
      541 ggccatagcg agcactagac gtgttgtcat tgcctgtgag ggtaacccac aggtgcctgt
      601 gcactttgac ggttagatgc caccatgtag ggattatcgc gagtggttga ccttacactt
      661 actccttaaa tagcagtgag taatgcattt gagctgcccc aggctctgtc tcctcagctc
      721 atttcttact ctttttctct atataactca ttctattaaa tacattgcac caaagagata
      781 tggagacata aacctgtaat gaatgaggct gggcttttct gtaataagct tccttttata
      841 atactggtca gcttagctct ctcagatcct atcctgtgga atttagttat tatgtgtatt
      901 tatgtagtat ttcaaacatt tcaaaatgct ttcatctatg tttatcacat tttaatacca
      961 cagcacttat aatgatgtca ctacatatag aagctcaaag ttaagggatt tgctgaagac
     1021 tgtaaagtta atggaagaat tgagacaaaa atccagtgta gctggccact tatccagggc
     1081 tttttctact tcatcacaag gaatgttttg aaagtgtctg ctttttttat ccttaaaatt
     1141 cacctgtcag ggaggcatta aaaatttgga aatgtatgcc agcaaaatgt gagctctgta
     1201 ttttttggca ttcttatgtt tgggtttaat aagattaaga aaatgatact gggaattttc
     1261 tttttcctga aactttgaat caccctagta agtcaaagta ctaaaaaatg tactagatca
     1321 ttaagactta tgtgctctta ctgattgaaa gattttttat gttttccttg taataaagga
     1381 cctaaaccga aggtacctga aaaaaaaaaa aaaa
//



Revised: July 5, 2002.
 
 


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1: NM_002343. Homo sapiens lact...[gi:4505042] Links  


LOCUS       LTF                     2619 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens lactotransferrin (LTF), mRNA.
ACCESSION   NM_002343
VERSION     NM_002343.1  GI:4505042
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2619)
  AUTHORS   Rado TA, Wei XP and Benz EJ Jr.
  TITLE     Isolation of lactoferrin cDNA from a human myeloid library and
            expression of mRNA during normal and leukemic myelopoiesis
  JOURNAL   Blood 70 (4), 989-993 (1987)
  MEDLINE   88001031
   PUBMED   3477300
REFERENCE   2  (bases 1 to 2619)
  AUTHORS   McCombs JL, Teng CT, Pentecost BT, Magnuson VL, Moore CM and McGill
            JR.
  TITLE     Chromosomal localization of human lactotransferrin gene (LTF) by in
            situ hybridization
  JOURNAL   Cytogenet. Cell Genet. 47 (1-2), 16-17 (1988)
  MEDLINE   88185118
   PUBMED   3356163
REFERENCE   3  (bases 1 to 2619)
  AUTHORS   Powell MJ and Ogden JE.
  TITLE     Nucleotide sequence of human lactoferrin cDNA
  JOURNAL   Nucleic Acids Res. 18 (13), 4013 (1990)
  MEDLINE   90326549
   PUBMED   2374734
REFERENCE   4  (bases 1 to 2619)
  AUTHORS   Rey,M.W., Woloshuk,S.L., deBoer,H.A. and Pieper,F.R.
  TITLE     Complete nucleotide sequence of human mammary gland lactoferrin
  JOURNAL   Nucleic Acids Res. 18 (17), 5288 (1990)
  MEDLINE   90384839
   PUBMED   2402455
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from X53961.1.
FEATURES             Location/Qualifiers
     source          1..2619
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21-q23"
                     /clone="HLF-1"
                     /cell_type="epithelial"
                     /tissue_type="mammary gland"
                     /clone_lib="lambda gt11"
     gene            1..2619
                     /gene="LTF"
                     /db_xref="LocusID:4057"
                     /db_xref="MIM:150210"
     promoter        227..232
                     /gene="LTF"
                     /note="pot. TATA box"
     CDS             295..2430
                     /gene="LTF"
                     /codon_start=1
                     /product="lactotransferrin"
                     /protein_id="NP_002334.1"
                     /db_xref="GI:4505043"
                     /db_xref="LocusID:4057"
                     /db_xref="MIM:150210"
                     /translation="MKLVFLVLLFLGALGLCLAGRRRRSVQWCAVSQPEATKCFQWQR
                     NMRKVRGPPVSCIKRDSPIQCIQAIAENRADAVTLDGGFIYEAGLAPYKLRPVAAEVY
                     GTERQPRTHYYAVAVVKKGGSFQLNELQGLKSCHTGLRRTAGWNVPTGTLRPFLNWTG
                     PPEPIEAAVARFFSASCVPGADKGQFPNLCRLCAGTGENKCAFSSQEPYFSYSGAFKC
                     LRDGAGDVAFIRESTVFEDLSDEAERDEYELLCPDNTRKPVDKFKDCHLARVPSHAVV
                     ARSVNGKEDAIWNLLRQAQEKFGKDKSPKFQLFGSPSGQKDLLFKDSAIGFSRVPPRI
                     DSGLYLGSGYFTAIQNLRKSEEEVAARRARVVWCAVGEQELRKCNQWSGLSEGSVTCS
                     SASTTEDCIALVLKGEADAMSLDGGYVYTACKCGLVPVLAENYKSQQSSDPDPNCVDR
                     PVEGYLAVAVVRRSDTSLTWNSVKGKKSCHTAVDRTAGWNIPMGLLFNQTGSCKFDEY
                     FSQSCAPGSDPRSNLCALCIGDEQGENKCVPNSNERYYGYTGAFRCLAENAGDVAFVK
                     DVTVLQNTDGNNNEAWAKDLKLADFALLCLDGKRKPVTEARSCHLAMAPNHAVVSRMD
                     KVERLKQVLLHQQAKFGRNGSDCPDKFCLFQSETKNLLFNDNTECLARLHGKTTYEKY
                     LGPQYVAGITNLKKCSTSPLLEACEFLRK"
     sig_peptide     295..351
                     /gene="LTF"
     mat_peptide     352..2427
                     /gene="LTF"
                     /product="lactotransferrin"
     misc_feature    370..1356
                     /gene="LTF"
                     /note="TR_FER; Region: Transferrin"
                     /db_xref="CDD:TR_FER"
     misc_feature    370..1353
                     /gene="LTF"
                     /note="transferrin; Region: Transferrin"
                     /db_xref="CDD:pfam00405"
     misc_feature    1393..2427
                     /gene="LTF"
                     /note="TR_FER; Region: Transferrin"
                     /db_xref="CDD:TR_FER"
     misc_feature    1393..2382
                     /gene="LTF"
                     /note="transferrin; Region: Transferrin"
                     /db_xref="CDD:pfam00405"
     variation       382
                     /gene="LTF"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1126477"
     variation       382
                     /gene="LTF"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3181524"
     variation       437
                     /gene="LTF"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1126478"
     variation       740
                     /gene="LTF"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1126479"
     variation       1389
                     /gene="LTF"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2230894"
     variation       1497
                     /gene="LTF"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2230895"
     variation       complement(1545)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2239692"
     variation       1561
                     /gene="LTF"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1042055"
     variation       1685
                     /gene="LTF"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1803892"
     variation       1920
                     /gene="LTF"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1042073"
     variation       2191
                     /gene="LTF"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:9110"
     variation       2490
                     /gene="LTF"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1803904"
BASE COUNT      626 a    661 c    767 g    565 t
ORIGIN      
        1 gactcctagg ggcttgcaga cctagtggga gagaaagaac atcgcagcag ccaggcagaa
       61 ccaggacagg tgaggtgcag gctggctttc ctctcgcagc gcggtgtgga gtcctgtcct
      121 gcctcagggc ttttcggagc ctggatcctc aaggaacaag tagacctggc cgcggggagt
      181 ggggagggaa ggggtgtcta ttgggcaaca gggcggcaaa gccctgaata aaggggcgca
      241 gggcaggcgc aagtgcagag ccttcgtttg ccaagtcgcc tccagaccgc agacatgaaa
      301 cttgtcttcc tcgtcctgct gttcctcggg gccctcggac tgtgtctggc tggccgtagg
      361 agaaggagtg ttcagtggtg cgccgtatcc caacccgagg ccacaaaatg cttccaatgg
      421 caaaggaata tgagaaaagt gcgtggccct cctgtcagct gcataaagag agactccccc
      481 atccagtgta tccaggccat tgcggaaaac agggccgatg ctgtgaccct tgatggtggt
      541 ttcatatacg aggcaggcct ggccccctac aaactgcgac ctgtagcggc ggaagtctac
      601 gggaccgaaa gacagccacg aactcactat tatgccgtgg ctgtggtgaa gaagggcggc
      661 agctttcagc tgaacgaact gcaaggtctg aagtcctgcc acacaggcct tcgcaggacc
      721 gctggatgga atgtccctac agggacactt cgtccattct tgaattggac gggtccacct
      781 gagcccattg aggcagctgt ggccaggttc ttctcagcca gctgtgttcc cggtgcagat
      841 aaaggacagt tccccaacct gtgtcgcctg tgtgcgggga caggggaaaa caaatgtgcc
      901 ttctcctccc aggaaccgta cttcagctac tctggtgcct tcaagtgtct gagagacggg
      961 gctggagacg tggcttttat cagagagagc acagtgtttg aggacctgtc agacgaggct
     1021 gaaagggacg agtatgagtt actctgccca gacaacactc ggaagccagt ggacaagttc
     1081 aaagactgcc atctggcccg ggtcccttct catgccgttg tggcacgaag tgtgaatggc
     1141 aaggaggatg ccatctggaa tcttctccgc caggcacagg aaaagtttgg aaaggacaag
     1201 tcaccgaaat tccagctctt tggctcccct agtgggcaga aagatctgct gttcaaggac
     1261 tctgccattg ggttttcgag ggtgcccccg aggatagatt ctgggctgta ccttggctcc
     1321 ggctacttca ctgccatcca gaacttgagg aaaagtgagg aggaagtggc tgcccggcgt
     1381 gcgcgggtcg tgtggtgtgc ggtgggcgag caggagctgc gcaagtgtaa ccagtggagt
     1441 ggcttgagcg aaggcagcgt gacctgctcc tcggcctcca ccacagagga ctgcatcgcc
     1501 ctggtgctga aaggagaagc tgatgccatg agtttggatg gaggatatgt gtacactgca
     1561 tgcaaatgtg gtttggtgcc tgtcctggca gagaactaca aatcccaaca aagcagtgac
     1621 cctgatccta actgtgtgga tagacctgtg gaaggatatc ttgctgtggc ggtggttagg
     1681 agatcagaca ctagccttac ctggaactct gtgaaaggca agaagtcctg ccacaccgcc
     1741 gtggacagga ctgcaggctg gaatatcccc atgggcctgc tcttcaacca gacgggctcc
     1801 tgcaaatttg atgaatattt cagtcaaagc tgtgcccctg ggtctgaccc gagatctaat
     1861 ctctgtgctc tgtgtattgg cgacgagcag ggtgagaata agtgcgtgcc caacagcaac
     1921 gagagatact acggctacac tggggctttc cggtgcctgg ctgagaatgc tggagacgtt
     1981 gcatttgtga aagatgtcac tgtcttgcag aacactgatg gaaataacaa tgaggcatgg
     2041 gctaaggatt tgaagctggc agactttgcg ctgctgtgcc tcgatggcaa acggaagcct
     2101 gtgactgagg ctagaagctg ccatcttgcc atggccccga atcatgccgt ggtgtctcgg
     2161 atggataagg tggaacgcct gaaacaggtg ctgctccacc aacaggctaa atttgggaga
     2221 aatggatctg actgcccgga caagttttgc ttattccagt ctgaaaccaa aaaccttctg
     2281 ttcaatgaca acactgagtg tctggccaga ctccatggca aaacaacata tgaaaaatat
     2341 ttgggaccac agtatgtcgc aggcattact aatctgaaaa agtgctcaac ctcccccctc
     2401 ctggaagcct gtgaattcct caggaagtaa aaccgaagaa gatggcccag ctccccaaga
     2461 aagcctcagc cattcactgc ccccagctct tctccccagg tgtgttgggg ccttggctcc
     2521 cctgctgaag gtggggattg cccatccatc tgcttacaat tccctgctgt cgtcttagca
     2581 agaagtaaaa tgagaaattt tgttgatatt caaaaaaaa
//



Revised: July 5, 2002.
 
 


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1: NM_001155. Homo sapiens anne...[gi:4809274] Links  


LOCUS       ANXA6                   2528 bp    mRNA    linear   PRI 03-FEB-2001
DEFINITION  Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.
ACCESSION   NM_001155
VERSION     NM_001155.2  GI:4809274
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2528)
  AUTHORS   Crompton,M.R., Owens,R.J., Totty,N.F., Moss,S.E., Waterfield,M.D.
            and Crumpton,M.J.
  TITLE     Primary structure of the human, membrane-associated Ca2+-binding
            protein p68 a novel member of a protein family
  JOURNAL   EMBO J. 7 (1), 21-27 (1988)
  MEDLINE   88196081
   PUBMED   3258820
REFERENCE   2  (bases 1 to 2528)
  AUTHORS   Sudhof,T.C., Slaughter,C.A., Leznicki,I., Barjon,P. and
            Reynolds,G.A.
  TITLE     Human 67-kDa calelectrin contains a duplication of four repeats
            found in 35-kDa lipocortins
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 85 (3), 664-668 (1988)
  MEDLINE   88124902
   PUBMED   2963335
REFERENCE   3  (bases 1 to 2528)
  AUTHORS   Iwasaki,A., Suda,M., Watanabe,M., Nakao,H., Hattori,Y., Nagoya,T.,
            Saino,Y., Shidara,Y. and Maki,M.
  TITLE     Structure and expression of cDNA for calphobindin II, a human
            placental coagulation inhibitor
  JOURNAL   J. Biochem. 106 (1), 43-49 (1989)
  MEDLINE   89380132
   PUBMED   2528541
REFERENCE   4  (bases 1 to 2528)
  AUTHORS   Smith,P.D., Davies,A., Crumpton,M.J. and Moss,S.E.
  TITLE     Structure of the human annexin VI gene
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 91 (7), 2713-2717 (1994)
  MEDLINE   94195813
   PUBMED   8146179
REFERENCE   5  (bases 1 to 2528)
  AUTHORS   Warrington,J.A. and Bengtsson,U.
  TITLE     High-resolution physical mapping of human 5q31-q33 using three
            methods: radiation hybrid mapping, interphase fluorescence in situ
            hybridization, and pulsed-field gel electrophoresis
  JOURNAL   Genomics 24 (2), 395-398 (1994)
  MEDLINE   95213037
   PUBMED   7698768
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from J03578.1 and X77673.1.
            On May 13, 1999 this sequence version replaced gi:4502108.
            Summary: Annexin VI belongs to a family of calcium-dependent
            membrane and phospholipid binding proteins. Although their
            functions are still not clearly defined, several members of the
            annexin family have been implicated in membrane-related events
            along exocytotic and endocytotic pathways. The annexin VI gene is
            approximately 60 kbp long and contains 26 exons.  It encodes a
            protein of about 68 kDa that consists of eight 68-amino acid
            repeats separated by linking sequences of variable lengths. It is
            highly similar to human annexins I and II sequences, each of which
            contain four such repeats.  Exon 21 of annexin VI is alternatively
            spliced, giving rise to two isoforms that differ by a 6-amino acid
            insertion at the start of the seventh repeat.  Annexin VI has been
            implicated in mediating the endosome aggregation and vesicle fusion
            in secreting epithelia during exocytosis.
            Transcript Variant: ANX6a transcript includes all 26 exons.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2528
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32-q34"
     gene            1..2528
                     /gene="ANXA6"
                     /note="CBP68; ANX6"
                     /db_xref="LocusID:309"
                     /db_xref="MIM:114070"
     CDS             171..2192
                     /gene="ANXA6"
                     /note="calphobindin II, calelectrin, calcium-binding
                     protein p68, p68, splice variant 1, protein isoform 1;
                     annexin VI (p68)"
                     /codon_start=1
                     /product="annexin VI isoform 1"
                     /protein_id="NP_001146.1"
                     /db_xref="GI:4502109"
                     /db_xref="LocusID:309"
                     /db_xref="MIM:114070"
                     /translation="MAKPAQGAKYRGSIHDFPGFDPNQDAEALYTAMKGFGSDKEAIL
                     DIITSRSNRQRQEVCQSYKSLYGKDLIADLKYELTGKFERLIVGLMRPPAYCDAKEIK
                     DAISGIGTDEKCLIEILASRTNEQMHQLVAAYKDAYERDLEADIIGDTSGHFQKMLVV
                     LLQGTREEDDVVSEDLVQQDVQDLYEAGELKWGTDEAQFIYILGNRSKQHLRLVFDEY
                     LKTTGKPMKASIRGELSGDFEKLMLAVVKCIRSTPEYFAERLFKAMKGLGTRDNTLIR
                     IMVSRSELDMLDIREIFRTKYEKSLYSMIKNDTSGEYKKTLLKLSGGDDDAAGQFFPE
                     AAQVAYQMWELSAVARVELKGTVRPANDFNPDADAKALRKAMKGLGTDEDTIIDIITH
                     RSNVQRQQIRQTFKSHFGRDLMTDLKSEISGDLARLILGLMMPPAHYDAKQLKKAMEG
                     AGTDEKALIEILATRTNAEIRAINEAYKEDYHKSLEDALSSDTSGHFRRILISLATGH
                     REEGGENLDQAREDAQVAAEILEIADTPSGDKTSLETRFMTILCTRTYPHLRRVFQEF
                     IKMTNYDVEHTIKKEMSGDVRDAFVAIVQSVKNKPLFFADKLYKSMKGAGTDEKTLTR
                     IMVSRSEIDLLNIRREFIEKYDKSLHQAIEGDTSGDFLKALLALCGGED"
     misc_feature    234..437
                     /gene="ANXA6"
                     /note="annexin; Region: Annexin"
                     /db_xref="CDD:pfam00191"
     misc_feature    279..437
                     /gene="ANXA6"
                     /note="ANX; Region: Annexin repeats"
                     /db_xref="CDD:ANX"
     misc_feature    459..653
                     /gene="ANXA6"
                     /note="annexin; Region: Annexin"
                     /db_xref="CDD:pfam00191"
     misc_feature    495..653
                     /gene="ANXA6"
                     /note="ANX; Region: Annexin repeats"
                     /db_xref="CDD:ANX"
     misc_feature    705..905
                     /gene="ANXA6"
                     /note="annexin; Region: Annexin"
                     /db_xref="CDD:pfam00191"
     misc_feature    747..905
                     /gene="ANXA6"
                     /note="ANX; Region: Annexin repeats"
                     /db_xref="CDD:ANX"
     misc_feature    927..1130
                     /gene="ANXA6"
                     /note="annexin; Region: Annexin"
                     /db_xref="CDD:pfam00191"
     misc_feature    972..1130
                     /gene="ANXA6"
                     /note="ANX; Region: Annexin repeats"
                     /db_xref="CDD:ANX"
     misc_feature    1263..1466
                     /gene="ANXA6"
                     /note="annexin; Region: Annexin"
                     /db_xref="CDD:pfam00191"
     misc_feature    1347..1466
                     /gene="ANXA6"
                     /note="ANX; Region: Annexin repeats"
                     /db_xref="CDD:ANX"
     misc_feature    1485..1682
                     /gene="ANXA6"
                     /note="annexin; Region: Annexin"
                     /db_xref="CDD:pfam00191"
     misc_feature    1524..1682
                     /gene="ANXA6"
                     /note="ANX; Region: Annexin repeats"
                     /db_xref="CDD:ANX"
     misc_feature    1800..1949
                     /gene="ANXA6"
                     /note="annexin; Region: Annexin"
                     /db_xref="CDD:pfam00191"
     misc_feature    1800..1949
                     /gene="ANXA6"
                     /note="ANX; Region: Annexin repeats"
                     /db_xref="CDD:ANX"
     misc_feature    1971..2174
                     /gene="ANXA6"
                     /note="annexin; Region: Annexin"
                     /db_xref="CDD:pfam00191"
     misc_feature    2016..2174
                     /gene="ANXA6"
                     /note="ANX; Region: Annexin repeats"
                     /db_xref="CDD:ANX"
     variation       300
                     /gene="ANXA6"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2228458"
     variation       1778
                     /gene="ANXA6"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1133202"
     variation       1778
                     /gene="ANXA6"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3194737"
     variation       2299
                     /gene="ANXA6"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1054389"
     variation       complement(2428)
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1465415"
     variation       2433
                     /gene="ANXA6"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3209210"
     polyA_signal    2503..2508
                     /gene="ANXA6"
                     /note="putative polyA signal"
BASE COUNT      612 a    669 c    738 g    509 t
ORIGIN      
        1 gccacgtgtc cggctcggag cccacggctg tcctcccggt ccgcgccgct gcggttgctg
       61 ctgggctaac gggctccgat ccagcgagcg ctgcgtcctc gagtccgccc gtgcgggcgc
      121 agggacccga ggcctccgct gcggctggat tctgctgcga accggagacc atggccaaac
      181 cagcacaggg tgccaagtac cggggctcca tccatgactt cccaggcttt gaccccaacc
      241 aggatgccga ggctctgtac actgccatga agggctttgg cagtgacaag gaggccatac
      301 tggacataat cacctcacgg agcaacaggc agaggcagga ggtctgccag agctacaagt
      361 ccctctacgg caaggacctc attgctgatt taaagtatga attgacgggc aagtttgaac
      421 ggttgattgt gggcctgatg aggccacctg cctattgtga tgccaaagaa attaaagatg
      481 ccatctcggg cattggcact gatgagaagt gcctcattga gatcttggct tcccggacca
      541 atgagcagat gcaccagctg gtggcagcat acaaagatgc ctacgagcgg gacctggagg
      601 ctgacatcat cggcgacacc tctggccact tccagaagat gcttgtggtc ctgctccagg
      661 gaaccaggga ggaggatgac gtagtgagcg aggacctggt acaacaggat gtccaggacc
      721 tatacgaggc aggggaactg aaatggggaa cagatgaagc ccagttcatt tacatcttgg
      781 gaaatcgcag caagcagcat cttcggttgg tgttcgatga gtatctgaag accacaggga
      841 agccgatgaa ggccagcatc cgaggggagc tgtctgggga ctttgagaag ctaatgctgg
      901 ccgtagtgaa gtgtatccgg agcaccccgg aatattttgc tgaaaggctc ttcaaggcta
      961 tgaagggcct ggggactcgg gacaacaccc tgatccgcat catggtctcc cgtagtgagt
     1021 tggacatgct cgacattcgg gagatcttcc ggaccaagta tgagaagtcc ctctacagca
     1081 tgatcaagaa tgacacctct ggcgagtaca agaagactct gctgaagctg tctgggggag
     1141 atgatgatgc tgctggccag ttcttcccgg aggcagcgca ggtggcctat cagatgtggg
     1201 aacttagtgc agtggcccga gtagagctga agggaactgt gcgcccagcc aatgacttca
     1261 accctgacgc agatgccaaa gcgctgcgga aagccatgaa gggactcggg actgacgaag
     1321 acacaatcat cgatatcatc acgcaccgca gcaatgtcca gcggcagcag atccggcaga
     1381 ccttcaagtc tcactttggc cgggacttaa tgactgacct gaagtctgag atctctggag
     1441 acctggcaag gctgattctg gggctcatga tgccaccggc ccattacgat gccaagcagt
     1501 tgaagaaggc catggaggga gccggcacag atgaaaaggc tcttattgaa atcctggcca
     1561 ctcggaccaa tgctgaaatc cgggccatca atgaggccta taaggaggac tatcacaagt
     1621 ccctggagga tgctctgagc tcagacacat ctggccactt caggaggatc ctcatttctc
     1681 tggccacggg gcatcgtgag gagggaggag aaaacctgga ccaggcacgg gaagatgccc
     1741 aggtggctgc tgagatcttg gaaatagcag acacacctag tggagacaaa acttccttgg
     1801 agacacgttt catgacgatc ctgtgtaccc ggacgtatcc gcacctccgg agagtcttcc
     1861 aggagttcat caagatgacc aactatgacg tggagcacac catcaagaag gagatgtctg
     1921 gggatgtcag ggatgcattt gtggccattg ttcaaagtgt caagaacaag cctctcttct
     1981 ttgccgacaa actttacaaa tccatgaagg gtgctggcac agatgagaag actctgacca
     2041 ggatcatggt atcccgcagt gagattgacc tgctcaacat ccggagggaa ttcattgaga
     2101 aatatgacaa gtctctccac caagccattg agggtgacac ctccggagac ttcctgaagg
     2161 ccttgctggc tctctgtggt ggtgaggact agggccacag ctttggcggg cacttctgcc
     2221 aagaaatggt tatcagcacc agccgccatg gccaagcctg attgttccag ctccagagac
     2281 taaggaaggg gcaggggtgg ggggaggggt tgggttgggc tcttatcttc atggagctta
     2341 ggaaacgctc ccactcccac gggccatcga gggccagcac ggctgagcgg tgaaaaaccg
     2401 tagccataga tcctgtccac ctccactccc ctctgaccct caggctttcc cagcttcctc
     2461 cccttgctac agcctctgcc ctggtttggc tatgtcagat ccaataaaca tcctgaacct
     2521 ctgtctgt
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_002731. Homo sapiens prot...[gi:4506056] Links  


LOCUS       PRKACB                  2945 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens protein kinase, cAMP-dependent, catalytic, beta
            (PRKACB), mRNA.
ACCESSION   NM_002731
VERSION     NM_002731.1  GI:4506056
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2945)
  AUTHORS   Beebe,S.J., Oyen,O., Sandberg,M., Froysa,A., Hansson,V. and
            Jahnsen,T.
  TITLE     Molecular cloning of a tissue-specific protein kinase (C gamma)
            from human testis--representing a third isoform for the catalytic
            subunit of cAMP-dependent protein kinase
  JOURNAL   Mol. Endocrinol. 4 (3), 465-475 (1990)
  MEDLINE   90258940
   PUBMED   2342480
REFERENCE   2  (bases 1 to 2945)
  AUTHORS   Simard,J., Berube,D., Sandberg,M., Grzeschik,K.H., Gagne,R.,
            Hansson,V. and Jahnsen,T.
  TITLE     Assignment of the gene encoding the catalytic subunit C beta of
            cAMP-dependent protein kinase to the p36 band on chromosome 1
  JOURNAL   Hum. Genet. 88 (6), 653-657 (1992)
  MEDLINE   92201831
   PUBMED   1551670
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from M34181.1.
FEATURES             Location/Qualifiers
     source          1..2945
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.1"
                     /tissue_type="testis"
     gene            1..2945
                     /gene="PRKACB"
                     /db_xref="LocusID:5567"
                     /db_xref="MIM:176892"
     CDS             48..1103
                     /gene="PRKACB"
                     /EC_number="2.7.1.37"
                     /note="C-beta isoform"
                     /codon_start=1
                     /product="protein kinase, cAMP-dependent, catalytic, beta"
                     /protein_id="NP_002722.1"
                     /db_xref="GI:4506057"
                     /db_xref="LocusID:5567"
                     /db_xref="MIM:176892"
                     /translation="MGNAATAKKGSEVESVKEFLAKAKEDFLKKWENPTQNNAGLEDF
                     ERKKTLGTGSFGRVMLVKHKATEQYYAMKILDKQKVVKLKQIEHTLNEKRILQAVNFP
                     FLVRLEYAFKDNSNLYMVMEYVPGGEMFSHLRRIGRFSEPHARFYAAQIVLTFEYLHS
                     LDLIYRDLKPENLLIDHQGYIQVTDFGFAKRVKGRTWTLCGTPEYLAPEIILSKGYNK
                     AVDWWALGVLIYEMAAGYPPFFADQPIQIYEKIVSGKVRFPSHFSSDLKDLLRNLLQV
                     DLTKRFGNLKNGVSDIKTHKWFATTDWIAIYQRKVEAPFIPKFRGSGDTSNFDDYEEE
                     DIRVSITEKCAKEFGEF"
     misc_feature    177..941
                     /gene="PRKACB"
                     /note="Region: pfam00069, pkinase, Protein kinase domain"
     misc_feature    177..941
                     /gene="PRKACB"
                     /note="Region: smart00220, S_TKc, erine/Threonine protein
                     kinases, catalytic domain; Phosphotransferases. Serine or
                     threonine-specific kinase subfamily"
     misc_feature    186..890
                     /gene="PRKACB"
                     /note="Region: smart00219, TyrKc, Tyrosine kinase,
                     catalytic domain; Phosphotransferases. Tyrosine-specific
                     kinase subfamily"
     misc_feature    948..1100
                     /gene="PRKACB"
                     /note="Region: smart00133, S_TK_X, Extension to
                     Ser/Thr-type protein kinases"
     misc_feature    951..1037
                     /gene="PRKACB"
                     /note="Region: pfam00433, pkinase_C, Protein kinase C
                     terminal domain"
     variation       1365
                     /gene="PRKACB"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:600674"
     variation       1365
                     /gene="PRKACB"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3729543"
     variation       1562
                     /gene="PRKACB"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:616790"
BASE COUNT      872 a    551 c    568 g    954 t
ORIGIN      
        1 ccagcccccc ttcccttccc tgaccccttc ttgccatcgc cccagacatg gggaacgcgg
       61 cgaccgccaa gaaaggcagc gaggtggaga gcgtgaaaga gtttctagcc aaagccaaag
      121 aagacttttt gaaaaaatgg gagaatccaa ctcagaataa tgccggactt gaagattttg
      181 aaaggaaaaa aacccttgga acaggttcat ttggaagagt catgttggta aaacacaaag
      241 ccactgaaca gtattatgcc atgaagatct tagataagca gaaggttgtt aaactgaagc
      301 aaatagagca tactttgaat gagaaaagaa tattacaggc agtgaatttt cctttccttg
      361 ttcgactgga gtatgctttt aaggataatt ctaatttata catggttatg gaatatgtcc
      421 ctgggggtga aatgttttca catctaagaa gaattggaag gttcagtgag ccccatgcac
      481 ggttctatgc agctcagata gtgctaacat tcgagtacct ccattcacta gacctcatct
      541 acagagatct aaaacctgaa aatctcttaa ttgaccatca aggctatatc caggtcacag
      601 actttgggtt tgccaaaaga gttaaaggca gaacttggac attatgtgga actccagagt
      661 atttggctcc agaaataatt ctcagcaagg gctacaataa ggcagtggat tggtgggcat
      721 taggagtgct aatctatgaa atggcagctg gctatccccc attctttgca gaccaaccaa
      781 ttcagattta tgaaaagatt gtttctggaa aggtccgatt cccatcccac ttcagttcag
      841 atctcaagga ccttctacgg aacctgctgc aggtggattt gaccaagaga tttggaaatc
      901 taaagaatgg tgtcagtgat ataaaaactc acaagtggtt tgccacgaca gattggattg
      961 ctatttacca gaggaaggtt gaagctccat tcataccaaa gtttagaggc tctggagata
     1021 ccagcaactt tgatgactat gaagaagaag atatccgtgt ctctataaca gaaaaatgtg
     1081 caaaagaatt tggtgaattt taaagaggaa caagatgaca tctgagctca cactcagtgt
     1141 ttgcactctg ttgagagata aggtagagct gagaccgtcc ttgttgaagc agttacctag
     1201 ttccttcatt ccaacgactg agtgaggtct ttattgccat catccgtgtg cgcactctgc
     1261 atccacctat gtaacaaggc accgctaagc aagcattgtc tgtgccataa cacagtacta
     1321 gaccactttc ttacttctct ttgggttgtc tttctcctct cctacatcca tttcttcctt
     1381 ttcaatttca ttggttttct ctaaacagtg ctccatttta ttttgttggt gtttcagatg
     1441 ggcagtgtta tggctacgtg atatttgaag ggaaggataa gtgttgcttt cagtagttat
     1501 tgccaatatt gttgttggtc aatggcttga agataaactt tctaataatt attatttctt
     1561 tgagtagctc agacttggtt ttgccaaaac tcttggtaat ttttgaagat agactgtctt
     1621 atcaccaagg aaatttatac aaattaagac taactttctt ggaattcact attctggcaa
     1681 taaattttgg tagactaata cagtacagct agacccagaa atttggaagg ctgtagatca
     1741 gaggttctag ttccctttcc ctccttttat atcctcctct ccttgagtaa tgaagtgacc
     1801 agcctgtgta gtgtgacaaa cgtgtctcat tcagcaggaa aaactaatga tatggatcat
     1861 cacccagatt ctctcacttg gtaccagcat ttctgtaggt attagagaag agttctaagt
     1921 tttctaaacc ttaactgttc cttaaggatt ttagccagta ttttaataga acatgattaa
     1981 tgaaagtgac aaattttaaa ttttctctaa tagtcctcat cataaacttt ttaaaggaaa
     2041 ataagcaaac taaaaagaac attggtttag ataaatactt atactttgca aagtcaaaaa
     2101 tggcttgatt tttggaaaca atatagaggt attcatattt aaatgagggt ttacatttgt
     2161 tttgttttgt aaccgttaaa aagaagttgt ttccagctaa ttattgtggt gtactatatt
     2221 tgtgagccta gggtaggggc actgctgcaa cttctgcttt catcccatgc ctcatcaatg
     2281 aggaaaggga acaaagtgta taaaacctgc cacaattgta ttttaatttt gaggtatgat
     2341 attttcagat atttcataat ttctaacctc tgttctctca gtaaacagaa tgtctgatcg
     2401 atcatgcaga tacaatgttg gtatttgaga ggttagtttt tttcctacac ttttttttgc
     2461 caactgactt aacaacattg ctgtcaggtg gaaatttcaa gcacttttgc acatttagtt
     2521 cagtgtttgt tgagaatcca tggcttaacc cacttgtttt gctatttttt tctttgcttt
     2581 taattttccc catctgattt tatctctgcg tttcagtgac ctaccttaaa acaacacacg
     2641 agaagagtta aactgggttc attttaatga tcaatttacc tgcatataaa atttattttt
     2701 aatcaagctg atcttaatgt atataatcat tctatttgct ttattatcgg tgcaggtagg
     2761 tcattaacac cacttctttt catctgtacc acaccctggt gaaacctttg aagacataaa
     2821 aaaaacctgt ctgagatgtt ctttctacca atctatatgt ctttcggtta tcaagtgttt
     2881 ctgcatggta atgtcatgta aatgctgata ttgatttcac tggtccatct atatttaaaa
     2941 cgtgc
//



Revised: July 5, 2002.
 
 


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1: NM_001387. Homo sapiens dihy...[gi:4503378] Links  


LOCUS       DPYSL3                  5047 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens dihydropyrimidinase-like 3 (DPYSL3), mRNA.
ACCESSION   NM_001387
VERSION     NM_001387.1  GI:4503378
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (sites)
  AUTHORS   Hamajima,N., Matsuda,K., Sakata,S., Tamaki,N., Sasaki,M. and
            Nonaka,M.
  TITLE     A novel gene family defined by human dihydropyrimidinase and three
            related proteins with differential tissue distribution
  JOURNAL   Gene 180 (1-2), 157-163 (1996)
  MEDLINE   97128821
   PUBMED   8973361
REFERENCE   2  (bases 1 to 5047)
  AUTHORS   Gaetano C, Matsuo T and Thiele CJ.
  TITLE     Identification and characterization of a retinoic acid-regulated
            human homologue of the unc-33-like phosphoprotein gene (hUlip) from
            neuroblastoma cells
  JOURNAL   J. Biol. Chem. 272 (18), 12195-12201 (1997)
  MEDLINE   97277371
   PUBMED   9115293
REFERENCE   3  (bases 1 to 5047)
  AUTHORS   Matsuo T, Stauffer JK, Walker RL, Meltzer P and Thiele CJ.
  TITLE     Structure and promoter analysis of the human unc-33-like
            phosphoprotein gene. E-box required for maximal expression in
            neuroblastoma and myoblasts
  JOURNAL   J. Biol. Chem. 275 (22), 16560-16568 (2000)
  MEDLINE   20287517
   PUBMED   10748015
  REMARK    Erratum:[[published erratum appears in J Biol Chem 2000 Aug
            11;275(32):25052-3]]
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from D78014.1.
FEATURES             Location/Qualifiers
     source          1..5047
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32"
                     /tissue_type="brain"
                     /dev_stage="fetus"
     gene            1..5047
                     /gene="DPYSL3"
                     /note="DRP-3; ULIP; CRMP-4"
                     /db_xref="LocusID:1809"
                     /db_xref="MIM:601168"
     CDS             111..1823
                     /gene="DPYSL3"
                     /codon_start=1
                     /product="dihydropyrimidinase-like 3"
                     /protein_id="NP_001378.1"
                     /db_xref="GI:4503379"
                     /db_xref="LocusID:1809"
                     /db_xref="MIM:601168"
                     /translation="MSYQGKKNIPRITSDRLLIKGGRIVNDDQSFYADIYMEDGLIKQ
                     IGDNLIVPGGVKTIEANGKMVIPGGIDVHTHFQMPYKGMTTVDDFFQGTKAALAGGTT
                     MIIDHVVPEPESSLTEAYEKWREWADGKSCCDYALHVDITHWNDSVKQEVQNLIKDKG
                     VNSFMVYMAYKDLYQVSNTELYEIFTCLGELGAIAQVHAENGDIIAQEQTRMLEMGIT
                     GPEGHVLSRPEELEAEAVFRAITIASQTNCPLYVTKVMSKSAADLISQARKKGNVVFG
                     EPITASLGIDGTHYWSKNWAKAAAFVTSPPLSPDPTTPDYINSLLASGDLQLSGSAHC
                     TFSTAQKAIGKDNFTAIPEGTNGVEERMSVIWDKAVATGKMDENQFVAVTSTNAAKIF
                     NLYPRKGRISVGSDSDLVIWDPDAVKIVSAKNHQSAAEYNIFEGMELRGAPLVVICQG
                     KIMLEDGNLHVTQGAGRFIPCSPFSDYVYKRIKARRKMADLHAVPRGMYDGPVFDLTT
                     TPKGGTPAGSARGSPTRPNPPVRNLHQSGFSLSGTQVDEGVRSASKRIVAPPGGRSNI
                     TSLS"
     misc_feature    159..422
                     /gene="DPYSL3"
                     /note="urease; Region: Urease"
                     /db_xref="CDD:pfam00449"
     misc_feature    165..425
                     /gene="DPYSL3"
                     /note="Adenine_deam; Region: Adenine deaminase"
                     /db_xref="CDD:pfam01979"
     misc_feature    216..668
                     /gene="DPYSL3"
                     /note="cellulase; Region: Cellulase (glycosyl hydrolase
                     family 5)"
                     /db_xref="CDD:pfam00150"
     misc_feature    276..1466
                     /gene="DPYSL3"
                     /note="Dihydrooratase; Region: Dihydroorotase-like"
                     /db_xref="CDD:pfam00744"
     variation       1434
                     /gene="DPYSL3"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:2304044"
     variation       1660
                     /gene="DPYSL3"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1803521"
     variation       complement(2385)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3749721"
     variation       2430
                     /gene="DPYSL3"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1049161"
     variation       2453
                     /gene="DPYSL3"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1803520"
     variation       3443
                     /gene="DPYSL3"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1049171"
     variation       complement(3443)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3828639"
     variation       complement(3671)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3805533"
     variation       complement(3852)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3805532"
     variation       4676
                     /gene="DPYSL3"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:13002"
     variation       4794
                     /gene="DPYSL3"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:13495"
     variation       4938
                     /gene="DPYSL3"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1049378"
BASE COUNT     1288 a   1215 c   1269 g   1275 t
ORIGIN      
        1 ccgttgctgt cgccgttgct gtcgggggcg ctgtgcgctg aggaaggcgc gggcgagccg
       61 gagcagaaga aggagggagg gagccagccg ctgcagccac caccgccacc atgtcctacc
      121 aaggcaagaa gaacatcccg cggatcacga gtgaccgtct ccttatcaag ggaggcagaa
      181 tcgtcaatga tgatcagtcc ttttatgctg atatttacat ggaagatggc ttaataaaac
      241 aaattggaga caatctgatt gttcctggag gagtgaagac cattgaagcc aatgggaaga
      301 tggtgatccc tggaggcatc gatgtccata ctcacttcca gatgccatat aagggaatga
      361 ccacagtaga tgacttcttc caagggacaa aggcggcctt agcaggtggc accaccatga
      421 tcattgacca tgtggtgcct gagcctgagt ccagcctgac tgaggcctat gagaaatgga
      481 gagagtgggc tgatgggaag agttgctgtg actatgccct gcatgtggac atcacccact
      541 ggaatgacag cgtcaagcag gaagtgcaga acctcatcaa ggacaaaggg gttaactcct
      601 tcatggttta tatggcttat aaggatttgt atcaagtatc taacacagag ctctatgaga
      661 tcttcacctg cctgggagag ctgggggcca ttgctcaagt tcatgctgag aatggggata
      721 tcattgccca ggagcaaacc cgcatgttgg aaatggggat aactggccca gaaggccatg
      781 tactgagcag gccagaagag ctggaagctg aggctgtgtt ccgtgccatc accattgcca
      841 gccaaaccaa ttgccctctc tacgtcacaa aggtcatgag caagagtgca gctgacctca
      901 tctcacaagc caggaaaaaa ggaaatgtag tctttggtga gcccatcact gccagcctcg
      961 gcatagatgg aacccattat tggagcaaga actgggccaa ggcggctgca tttgtgacat
     1021 ccccacccct gagccctgac ccaactactc cggactacat caactccttg ctggccagcg
     1081 gggatctgca gctatctggg agtgcccact gcaccttcag cactgcccag aaagcaattg
     1141 ggaaggacaa cttcacagcc attcctgagg gcaccaatgg tgtggaggag cggatgtctg
     1201 tcatctggga caaggctgtg gccacaggga aaatggacga aaaccagttc gtggctgtga
     1261 caagcacaaa cgctgccaag atcttcaacc tgtatccccg caagggaaga atatctgtgg
     1321 gttctgacag cgacctcgtc atctgggatc cagatgctgt gaagatcgtc tctgccaaga
     1381 accaccagtc tgcggcagag tacaacatct ttgaagggat ggagctgcgc ggggctcctc
     1441 tggttgtcat ctgccagggc aagatcatgc tggaagatgg caacctgcac gtgacccagg
     1501 gggctggccg cttcataccc tgcagcccgt tctccgacta tgtctacaag cgcattaaag
     1561 cacggaggaa gatggcagac ctgcatgccg tcccaagggg catgtacgat gggcctgtgt
     1621 ttgacctgac caccaccccc aaaggtggca cccccgcagg ctctgctcgg ggctctccta
     1681 ctcggccgaa cccacctgtg aggaatcttc atcagtcggg atttagcctg tcaggcaccc
     1741 aagtggatga gggggttcgc tcagccagca agcgcatcgt ggccccccca ggcggccgtt
     1801 ctaatatcac atctctgagt taagcaagcc ttcctcaaag agaggggcag aagcaagaag
     1861 agattgtttt gaagccaaaa tggtacaccg atatttaaga aggaaagcga atccaaacgg
     1921 ttgtgatcta aagaatcaat aagcctcaag ccttatgttt ctccaatgtt acgctcgctt
     1981 gcctagcttt acgaatattg ctttgttttc tgtttatgca tagccttgat ttgtttgact
     2041 cccctccccc catttacatg catgcaatca gacaggccac taaggtaaaa gagtctgctc
     2101 tatcatagtg ttgagagcgt gtgtagtgct gcatcttatg acaaggggac agacaagctg
     2161 ggacgtcagg gaaatgaaca aaagggacgc aggttatttg gggtgagtgg gtggtgggag
     2221 cctggagcaa ggtggagggt gcagaggggc tggggtaggg catgtaggag ggaggtgggt
     2281 gggtcaggtg agtggaaggg gtgttgtata ttgtgttgat gacgtacgtt atttccatgg
     2341 aagatagccg ctgtggcagc tgtcacatca ccacagctcc ctagggtctg ccgagaaggc
     2401 aggcagtctt tgggttctgt tctttgtcac gtcccctaca agtaaatttt gtttctttga
     2461 acgtttatta aaatgccaag acccaaccat ttcttccacc tgcttgattg tgccagtgtt
     2521 tgctcaggcc tctttcttag tgttgctttc aaatccttct ctttcctggg ttgggaaggc
     2581 caggcaggga cagagcaaat gacacttctc ttcctcttgc cctccctgcc tctttggtgc
     2641 tcttaaaagc cagcagctga gaacatagca caggcccacg tggtgagggc acccacagct
     2701 taaagacgct tccttctaaa cacggcgagg tcacctctca ctcttctgtc tttgcaaacc
     2761 gagaagagtg gcatgcttct ggcatcccaa gtcaggattt tagctcagat gaggcagaat
     2821 gaagggcctc tcttacaggc agtttgtgtt tgattctctc gatcctggca catccatgat
     2881 aaataggagt ttttgaaagt tggttttatt aggtgttccc taatttttac cgtaataggt
     2941 catctcagct tatatgaaag tcaagtgggg aactgggaaa gccaaagtca gtcttgagca
     3001 gagggagcac attttgtgga cctggttcca cctttccatt ccaaaccacc tgtttcccct
     3061 tccattagca gaaactctgg gggaactttg tgtctcagtc ctagaatctc cccaagtgag
     3121 tggaagtgac atgatgcagt cttcctcatg gggcacctga aagaaattag tgtgggtgct
     3181 tcgatctacc ttgtctgtca gagttgaata tctctttccc tatcatgctg cttctgaaaa
     3241 ttcagttttg gagcaagtcc tgtgagcaag ataagaatct atagaaccaa gatgctcatt
     3301 ttcagaagaa atatgttcaa cctgggatca gacttccatg ctctggggaa tccaagtggt
     3361 agcacctgta accctgtgta ctaagtgctt tgaagagaag agcaggcctc agacaccttt
     3421 taattgctta ggagaaacca ttgtctctga ctgcaggttt gaataagttg aagaccagag
     3481 aaaagtacac actgggctac aaaggaattt ggagatagcc aaggaacagg atttccccta
     3541 gcaagctacc ttctgttcaa atcatgaaaa aagactattt ccccttagaa tagggaagct
     3601 tgctatttta aagctcttgt agtgcttttc ttttaaggga gatgtagtaa aagggaaaat
     3661 gtagctctta gtttacactt caaagatgtg ggggtctttc agagaactaa gaataacagt
     3721 tttatgtgca gagagagttt gccagatctg aagcatatac ctcattgact aggctgttac
     3781 tttgggatag gttgcagtac cagccacagc cagcagatag aggaaaagac acacataaac
     3841 tcgcttctga gcgtccactt ctgcactctc tgctctgctg ttactcagcc cctgagtctg
     3901 actcatctct gcacaacctc tctgtgccat gaagataagt cttccatggc caaatcggtc
     3961 atccgcactg cccttgggac ttccgaagtg aaccattcca ccagaacctt tgattctgca
     4021 caagatttcc ttgctctggg aacaaccccc aaatgccctt gggaggaaca acatgagctc
     4081 aggaagcctc tctttcttca cttaccatta ctaactctcc aagcatagaa atccctggga
     4141 attgcgagaa taactcccac tattttaaaa tttatattca gatttgtttc gtttcataag
     4201 acacatcaaa caggcctata caaaaggttt aggaaaagaa aacaatggtg agtcccggcc
     4261 ctcttcgaat tcactggcac ctcatgcaag tgtaggaagg cacgctggat cgtctatctg
     4321 attccaaagc tgtcctttgc catctcatcc cttggcctgc cccccaaccc tgaggatgcc
     4381 cctgccatcc ccccaacctc ctcatattgc ctctgaaccc agatggcaat ccatcccggt
     4441 tctctctgag ggccacgggc ttgggtagtg gaaagggtgt ttgggaaatt gttaaatcag
     4501 ttacccgtag tagagctatt tcttgtactt ctaagttttc tagaagtgga aggattgtag
     4561 tcatcctgaa aatgggttta cttcaaaatc cctcagcctt gttcttcacg actgtctata
     4621 ctgagagtgt catgtttcca caaagggctg acacctgagc ctggattttc actcatccct
     4681 gagaagccct ttccagtagg gtgggcaatt cccaacttcc ttgccacaag cttcccaggc
     4741 tttctcccct ggaaaactcc agcttgagtc ccagatacac tcatgggctg ccctgggcag
     4801 ccagcattca ttgtaagttc cctctttgaa aactggtgtg tgggtgttca gttctgtgtc
     4861 tggtgggtat ggacagacag taatctcctg tgatctgtgc tagctgtgag gcagctctgg
     4921 aacgtgaaga gctgtttggt ttgaaccgtg aacaaaactg tgttttgagt ttagctgaca
     4981 ttaaagaaaa aagttcatca cgtgactgtt aatgtaaacc tggttattaa aataactatg
     5041 aaattac
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

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&&&&&&&


    
 
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   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene  for        
 
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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_003922. Homo sapiens hect...[gi:4557025] Links  


LOCUS       HERC1                  15164 bp    mRNA    linear   PRI 16-NOV-2000
DEFINITION  Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl
            terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.
ACCESSION   NM_003922
VERSION     NM_003922.1  GI:4557025
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 15164)
  AUTHORS   Rosa,J.L., Casaroli-Marano,R.P., Buckler,A.J., Vilaro,S. and
            Barbacid,M.
  TITLE     p619, a giant protein related to the chromosome condensation
            regulator RCC1, stimulates guanine nucleotide exchange on ARF1 and
            Rab proteins
  JOURNAL   EMBO J. 15 (16), 4262-4273 (1996)
  MEDLINE   97015127
   PUBMED   8861955
REFERENCE   2  (bases 1 to 15164)
  AUTHORS   Rosa,J.L. and Barbacid,M.
  TITLE     A giant protein that stimulates guanine nucleotide exchange on ARF1
            and Rab proteins forms a cytosolic ternary complex with clathrin
            and Hsp70
  JOURNAL   Oncogene 15 (1), 1-6 (1997)
  MEDLINE   97377001
   PUBMED   9233772
REFERENCE   3  (bases 1 to 15164)
  AUTHORS   Ji,Y., Walkowicz,M.J., Buiting,K., Johnson,D.K., Tarvin,R.E.,
            Rinchik,E.M., Horsthemke,B., Stubbs,L. and Nicholls,R.D.
  TITLE     The ancestral gene for transcribed, low-copy repeats in the
            Prader-Willi/Angelman region encodes a large protein implicated in
            protein trafficking, which is deficient in mice with neuromuscular
            and spermiogenic abnormalities
  JOURNAL   Hum. Mol. Genet. 8 (3), 533-542 (1999)
  MEDLINE   99138701
   PUBMED   9949213
REFERENCE   4  (bases 1 to 15164)
  AUTHORS   Cruz,C., Paladugu,A., Ventura,F., Bartrons,R., Aldaz,M. and
            Rosa,J.L.
  TITLE     Assignment of the human P532 gene (HERC1) to chromosome 15q22 by
            fluorescence in situ hybridization
  JOURNAL   Cytogenet. Cell Genet. 86 (1), 68-69 (1999)
  MEDLINE   99447611
   PUBMED   10516438
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U50078.1.
            Summary: The protein encoded by this gene stimulates guanine
            nucleotide exchange on ARF1 and Rab proteins. This protein is
            throught to be involved in membrane transport processes.
FEATURES             Location/Qualifiers
     source          1..15164
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q22"
     gene            1..15164
                     /gene="HERC1"
                     /note="P532; P619"
                     /db_xref="LocusID:8925"
                     /db_xref="MIM:605109"
     CDS             97..14682
                     /gene="HERC1"
                     /codon_start=1
                     /product="guanine nucleotide exchange factor p532"
                     /protein_id="NP_003913.1"
                     /db_xref="GI:4557026"
                     /db_xref="LocusID:8925"
                     /db_xref="MIM:605109"
                     /db_xref="LocusID:8925"
                     /db_xref="MIM:605109"
                     /translation="MATMIPPVKLKWLEHLNSSWITEDSESIATREGVAVLYSKLVSN
                     KEVVPLPQQVLCLKGPQLPDFERESLSSDEQDHYLDALLSSQLALAKMVCSDSPFAGA
                     LRKRLLVLQRVFYALSNKYHDKGKVKQQQHSPESSSGSADVHSVSERPRSSTDALIEM
                     GVRTGLSLLFALLRQSWMMPVSGPGLSLCNDVIHTAIEVVSSLPPLSLANESKIPPMG
                     LDCLSQVTTFLKGVTIPNSGADTLGRRLASELLLGLAAQRGSLRYLLEWIEMALGASA
                     VVHTMEKGKLLSSQEGMISFDCFMTILMQMRRSLGSSADRSQWREPTRTSDGLCSLYE
                     AALCLFEEVCRMASDYSRTCASPDSIQTGDAPIVSETCEVYVWGSNSSHQLVEGTQEK
                     ILQPKLAPSFSDAQTIEAGQYCTFVISTDGSVRACGKGSYGRLGLGDSNNQSTLKKLT
                     FEPHRSIKKVSSSKGSDGHTLAFTTEGEVFSWGDGDYGKLGHGNSSTQKYPKLIQGPL
                     QGKVVVCVSAGYRHSAAVTEDGELYTWGEGDFGRLGHGDSNSRNIPTLVKDISNVGEV
                     SCGSSHTIALSKDGRTVWSFGGGDNGKLGHGDTNRVYKPKVIEALQGMFIRKVCAGSQ
                     SSLALTSTGQVYAWGCGACLGCGSSEATALRPKLIEELAATRIVDVSIGDSHCLALSH
                     DNEVYAWGNNSMGQCGQGNSTGPITKPKKVSGLDGIAIQQISAGTSHSLAWTALPRDR
                     QVVAWHRPYCVDLEESTFSHLRSFLERYCDKINSEIPPLPFPSSREHHSFLKLCLKLL
                     SNHLALALAGGVATSILGRQAGPLRNLLFRLMDSTVPDEIQEVVIETLSVGATMLLPP
                     LRERMELLHSLLPQGPDRWESLSKGQRMQLDIILTSLQDHTHVASLLGYSSPSDAADL
                     SSVCTGYGNLSDQPYGTQSCHPDTHLAEILMKTLLRNLGFYTDQAFGELEKNSDKFLL
                     GTSSSENSQPAHLHELLCSLQKQLLAFCHINNISENSSSVALLHKHLQLLLPHATDIY
                     SRSANLLKESPWNGSVGEKLRDVIYVSAAGSMLCQIVNSLLLLPVSVARPLLSYLLDL
                     LPPLDCLNRLLPAADLLEDQELQWPLHGGPELIDPAGLPLPQPAQSWVWLVDLERTIA
                     LLIGRCLGGMLQGSPVSPEEQDTAYWMKTPLFSDGVEMDTPQLDKCMSCLLEVALSGN
                     EEQKPFDYKLRPEIAVYVDLALGCSKEPARSLWISMQDYAVSKDWDSATLSNESLLDT
                     VSRFVLAALLKHTNLLSQACGESRYQPGKHLSEVYRCVYKVRSRLLACKNLELIQTRS
                     SSRDRWISENQDSADVDPQEHSFTRTIDEEAEMEEQAERDREEGHPEPEDEEEEREHE
                     VMTAGKIFQCFLSAREVARSRDRDRMNSGAGSGARADDPPPQSQQERRVSTDLPEGQD
                     VYTAACNSVIHRCALLILGVSPVIDELQKRREEGQLQQPSTSASEGGGLMTRSESLTA
                     ESRLVHTSPNYRLIKSRSESDLSQPESDEEGYALSGRQNVDLDLAASHRKRGPMHSQL
                     ESLSDSWARLKHSRDWLCNSSYSFESDFDLTKSLGVHTLIENVVSFVSGDVGNAPGFK
                     EPEESMSTSPQASIIAMEQQQLRAELRLEALHQILVLLSGMEEKGSISLAGSRLSSGF
                     QSSTLLTSVRLQFLAGCFGLGTVGHTGAKGESGRLHHYQDGIRAAKRNIQIEIQVAVH
                     KIYQQLSATLERALQANKHHIEAQQRLLLVTVFALSVHYQPVDVSLAISTGLLNVLSQ
                     LCGTDTMLGQPLQLLPKTGVSQLSTALKVASTRLLQILAITTGTYADKLSPKVVQSLL
                     DLLCSQLKNLLSQTGVLHMASFGEGEQEDGEEEEKKVDSSGETEKKDFRAALRKQHAA
                     ELHLGDFLVFLRRVVSSKAIQSKMASPKWTEVLLNIASQKCSSGIPLVGNLRTRLLAL
                     HVLEAVLPACESGVEDDQMAQIVERLFSLLSDCMWETPIAQAKHAIQIKEKEQEIKLQ
                     KQGELEEEDENLPIQEVSFDPEKAQCCLVENGQILTHGSGGKGYGLASTGVTSGCYQW
                     KFYIVKENRGNEGTCVGVSRWPVHDFNHRTTSDMWLYRAYSGNLYHNGEQTLTLSSFT
                     QGDFITCVLDMEARTISFGKNGEEPKLAFEDVDAAELYPCVMFYSSNPGEKVKICDMQ
                     MRGTPRDLLPGDPICSPVAAVLAEATIQLVRILHRTDRWTYCINKKMMERLHKIKICI
                     KESGQKLKKSRSVQSREENEMREEKESKEEEKGKHTRHGLADLSELQLRTLCIEVWPV
                     LAVIGGVDAGLRVGGRCVHKQTGRHATLLGVVKEGSTSAKVQWDEAEITISFPTFWSP
                     SDTPLYNLEPCEPLPFDVARFRGLTASVLLDLTYLTGVHEDMGKQSTKRHEKKHRHES
                     EEKGDVEQKPESESALDMRTGLTSDDVKSQSTTSSKSENEIASFSLDPTLPSVESQHQ
                     ITEGKRKNHEHMSKNHDVAQSEIRAVQLSYLYLGAMKSLSALLGCSKYAELLLIPKVL
                     AENGHNSDCASSPVVHEDVEMRAALQFLMRHMVKRAVMRSPIKRALGLADLERAQAMI
                     YKLVVHGLLEDQFGGKIKQEIDQQAEESDPAQQAQTPVTTSPSASSTTSFMSSSLEDT
                     TTATTPVTDTETVPASESPGVMPLSLLRQMFSSYPTTTVLPTRRAQTPPISSLPTSPS
                     DEVGRRQSLTSPDSQSARPANRTALSDPSSRLSTSPPPPAIAVPLLEMGFSLRQIAKA
                     MEATGARGEADAQNITVLAMWMIEHPGHEDEEEPQSGSTADSRPGAAVLGSGGKSNDP
                     CYLQSPGDIPSADAAEMEEGFSESPDNLDHTENAASGSGPSARGRSAVTRRHKFDLAA
                     RTLLARAAGLYRSVQAHRNQSRREGISLQQDPGALYDFNLDEELEIDLDDEAMEAMFG
                     QDLTSDNDILGMWIPEVLDWPTWHVCESEDREEVVVCELCECSVVSFNQHMKRNHPGC
                     GRSANRQGYRSNGSYVDGWFGGECGSGNPYYLLCGTCREKYLAMKTKSKSTSSERYKG
                     QAPDLIGKQDSVYEEDWDMLDVDEDEKLTGEEEFELLAGPLGLNDRRIVPEPVQFPDS
                     DPLGASVAMVTATNSMEETLMQIGCHGSVEKSSSGRITLGEQAAALANPHDRVVALRR
                     VTAAAQVLLARTMVMRALSLLSVSGSSCSLAAGLESLGLTDIRTLVRLMCLAAAGRAG
                     LSTSPSAMASTSERSRGGHSKANKPISCLAYLSTAVGCLASNAPSAAKLLVQLCTQNL
                     ISAATGVNLTTVDDSIQRKFLPSFLRGIAEENKLVTSPNFVVTQALVALLADKGAKLR
                     PNYDKSEVEKKGPLELANALAACCLSSRLSSQHRQWAAQQLVRTLAAHDRDNQTTLQT
                     LADMGGDLRKCSFIKLEAHQNRVMTCVWCNKKGLLATSGNDGTIRVWNVTKKQYSLQQ
                     TCVFNRLEGDAEESLGSPSDPSFSPVSWSISGKYLAGALEKMVNIWQVNGGKGLVDIQ
                     PHWVSALAWPEEGPATAWSGESPELLLVGRMDGSLGLIEVVDVSTMHRRELEHCYRKD
                     VSVTCIAWFSEDRPFAVGYFDGKLLLGTKEPLEKGGIVLIDAHKDTLISMKWDPTGHI
                     LMTCAKEDSVKLWGSISGCWCCLHSLCHPSIVNGIAWCRLPGKGSKLQLLMATGCQSG
                     LVCVWRIPQDTTQTNVTSAEGWWDQESNCQDGYRKSSGAKCVYQLRGHITPVRTVAFS
                     SDGLALVSGGLGGLMNIWSLRDGSVLQTVVIGSGAIQTTVWIPEVGVAACSNRSKDVL
                     VVNCTAEWAAANHVLATCRTALKQQGVLGLNMAPCMRAFLERLPMMLQEQYAYEKPHV
                     VCGDQLVHSPYMQCLASLAVGLHLDQLLCNPPVPPHHQNCLPDPASWNPNEWAWLECF
                     STTIKAAEALTNGAQFPESFTVPDLEPVPEDELVFLMDNSKWINGMDEQIMSWATSRP
                     EDWHLGGKCDVYLWGAGRHGQLAEAGRNVMVPAAAPSFSQAQQVICGQNCTFVIQANG
                     TVLACGEGSYGRLGQGNSDDLHVLTVISALQGFVVTQLVTSCGSDGHSMALTESGEVF
                     SWGDGDYGKLGHGNSDRQRRPRQIEALQGEEVVQMSCGFKHSAVVTSDGKLFTFGNGD
                     YGRLGLGNTSNKKLPERVTALEGYQIGQVACGLNHTLAVSADGSMVWAFGDGDYGKLG
                     LGNSTAKSSPQKIDVLCGIGIKKVACGTQFSVALTKDGHVYTFGQDRLIGLPEGRARN
                     HNRPQQIPVLAGVIIEDVAVGAEHTLALASNGDVYAWGSNSEGQLGLGHTNHVREPTL
                     VTGLQGKNVRQISAGRCHSAAWTAPPVPPRAPGVSVPLQLGLPDTVPPQYGALREVSI
                     HTVRARLRLLYHFSDLMYSSWRLLNLSPNNQNSTSHYNAGTWGIVQGQLRPLLAPRVY
                     TLPMVRSIGKTMVQGKNYGPQITVKRISTRGRKCKPIFVQIARQVVKLNASDLRLPSR
                     AWKVKLVGEGADDAGGVFDDTITEMCQELETGIVDLLIPSPNATAEVGYNRDRFLFNP
                     SACLDEHLMQFKFLGILMGVAIRTKKPLDLHLAPLVWKQLCCVPLTLEDLEEVDLLYV
                     QTLNSILHIEDSGITEESFHEMIPLDSFVGQSADGKMVPIIPGGNSIPLTFSNRKEYV
                     ERAIEYRLHEMDRQVAAVREGMSWIVPVPLLSLLTAKQLEQMVCGMPEISVEVLKKVV
                     RYREVDEQHQLVQWFWHTLEEFSNEERVLFMRFVSGRSRLPANTADISQRFQIMKVDR
                     PYDSLPTSQTCFFQLRLPPYSSQLVMAERLRYAINNCRSIDMDNYMLSRNVDNAEGSD
                     TDY"
     misc_feature    1522..1677
                     /gene="HERC1"
                     /note="RCC1; Region: Regulator of chromosome condensation
                     (RCC1)"
                     /db_xref="CDD:pfam00415"
     misc_feature    1681..1830
                     /gene="HERC1"
                     /note="RCC1; Region: Regulator of chromosome condensation
                     (RCC1)"
                     /db_xref="CDD:pfam00415"
     misc_feature    6301..6537
                     /gene="HERC1"
                     /note="SPRY; Region: Domain in SPla and the RYanodine
                     Receptor."
                     /db_xref="CDD:SPRY"
     misc_feature    6394..6654
                     /gene="HERC1"
                     /note="SPRY; Region: SPRY domain"
                     /db_xref="CDD:pfam00622"
     misc_feature    12394..12546
                     /gene="HERC1"
                     /note="RCC1; Region: Regulator of chromosome condensation
                     (RCC1)"
                     /db_xref="CDD:pfam00415"
     misc_feature    12550..12705
                     /gene="HERC1"
                     /note="RCC1; Region: Regulator of chromosome condensation
                     (RCC1)"
                     /db_xref="CDD:pfam00415"
     misc_feature    13024..13176
                     /gene="HERC1"
                     /note="RCC1; Region: Regulator of chromosome condensation
                     (RCC1)"
                     /db_xref="CDD:pfam00415"
     misc_feature    13597..14640
                     /gene="HERC1"
                     /note="HECTc; Region: Domain Homologous to E6-AP Carboxyl
                     Terminus with"
                     /db_xref="CDD:HECTc"
     misc_feature    13723..14604
                     /gene="HERC1"
                     /note="HECT; Region: HECT-domain (ubiquitin-transferase)"
                     /db_xref="CDD:pfam00632"
     variation       666
                     /gene="HERC1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2228514"
     variation       882
                     /gene="HERC1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2228515"
     variation       3163
                     /gene="HERC1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1063416"
     variation       3195
                     /gene="HERC1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1063417"
     variation       3207
                     /gene="HERC1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1063418"
     variation       3246
                     /gene="HERC1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1140414"
     variation       3258
                     /gene="HERC1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1140415"
     variation       3261
                     /gene="HERC1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1140416"
     variation       3264
                     /gene="HERC1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1140417"
     variation       3273
                     /gene="HERC1"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1140418"
     variation       3306
                     /gene="HERC1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1063419"
     variation       3318
                     /gene="HERC1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1063420"
     variation       3333
                     /gene="HERC1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1063421"
     variation       3358
                     /gene="HERC1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1063422"
     variation       3360
                     /gene="HERC1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1063423"
     variation       3404
                     /gene="HERC1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1063424"
     variation       3420
                     /gene="HERC1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1140419"
     variation       3444
                     /gene="HERC1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1140420"
     variation       3661
                     /gene="HERC1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2228519"
     variation       6079
                     /gene="HERC1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2228512"
     variation       6754
                     /gene="HERC1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2228510"
     variation       6754
                     /gene="HERC1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3751525"
     variation       9060
                     /gene="HERC1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2229748"
     variation       9189
                     /gene="HERC1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2228511"
     variation       9551
                     /gene="HERC1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2228513"
     variation       11262
                     /gene="HERC1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2229749"
     variation       11835
                     /gene="HERC1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2228517"
     variation       12480
                     /gene="HERC1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2228509"
     variation       13028
                     /gene="HERC1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1140421"
     variation       13171
                     /gene="HERC1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2229746"
     variation       13248
                     /gene="HERC1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1140422"
     variation       13276
                     /gene="HERC1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2228516"
     variation       14655
                     /gene="HERC1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2228518"
     variation       14849
                     /gene="HERC1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1131647"
BASE COUNT     4130 a   3277 c   3847 g   3910 t
ORIGIN      
        1 gaattccgcc tctgcggagc cgggctcggg tcgccggagc cgcgccccac cccgccagct
       61 ccagagccac gactaatggc tgaaggataa atcaacatgg caactatgat tccaccagtg
      121 aagctgaaat ggcttgaaca cttgaacagc tcctggatta cagaggacag tgaatctatt
      181 gctacaagag agggagttgc tgttctgtat tctaaactgg ttagcaataa ggaagtagta
      241 cctttgcccc aacaagtttt atgcctcaaa ggaccacagt tgccagactt tgaacgtgag
      301 tctctttcaa gtgatgagca ggaccactat ttggatgccc ttcttagcag ccagctagca
      361 ttggcaaaga tggtatgttc agattcccca tttgccgggg cacttagaaa acgactgctt
      421 gtactccagc gtgtctttta tgcactttct aataaatacc atgacaaagg caaggtgaag
      481 cagcagcagc attctccgga gagcagttct ggttcagcag atgtccattc tgttagtgaa
      541 cgcccccggt caagcactga tgcacttata gaaatgggtg ttcgaactgg tctaagttta
      601 ttatttgcgc ttctaagaca aagttggatg atgcctgtgt caggacctgg tctcagtctt
      661 tgcaacgatg tcattcatac tgcaattgaa gttgtgagct ctttgccacc attatcatta
      721 gcaaatgaaa gcaagattcc tcctatgggc ttggactgct tatcgcaagt aacaacattt
      781 cttaaaggag tcactattcc taattctggg gcagacactt taggtcgtag attagcttct
      841 gagttgctgc ttggtttggc agctcaacga ggctcattgc gatatcttct tgaatggata
      901 gaaatggctt tgggggcttc ggcagttgta cacaccatgg agaaaggcaa actactctca
      961 agccaggaag gaatgatcag ctttgactgc tttatgacca tattaatgca gatgaggcgt
     1021 tctttgggtt catctgctga tcggagtcag tggagagaac caaccagaac atcggatggc
     1081 ttgtgctccc tttacgaggc agcattatgt ctctttgaag aggtttgcag aatggcttct
     1141 gattattcga gaacatgtgc tagcccagat agcattcaga ctggtgatgc tcccattgtc
     1201 tccgaaacct gtgaggttta tgtttggggg agcaatagca gccatcagtt ggtagaaggt
     1261 acacaggaga aaatactgca acccaaactg gctcctagtt tctctgatgc acagaccatt
     1321 gaagctggac agtactgcac ttttgtcatt tctacggatg gctcagttag agcttgcggg
     1381 aaaggcagct atgggagact gggccttgga gactccaata atcagtcaac tttaaaaaag
     1441 ttaacattcg agcctcacag atccattaaa aaggtttcat cttctaaagg atctgatggt
     1501 cacactttag cctttacgac agaaggagaa gtcttcagtt ggggagatgg tgattatggg
     1561 aaactggggc atggaaatag ttcaacacag aaatatccca agcttattca gggacctcta
     1621 caaggaaagg tagttgtttg tgtgtcagct ggatacagac atagtgctgc tgtcacagag
     1681 gatggggaat tatacacatg gggtgaagga gactttggaa gattaggtca tggtgacagc
     1741 aatagtcgta acattccaac attagtaaaa gacatcagca atgtaggaga ggtttcttgt
     1801 ggcagttcac atactattgc tctgtctaaa gatgggagaa ctgtatggtc ttttggagga
     1861 ggagacaatg gtaaacttgg tcatggtgat accaacagag tgtataaacc taaagttatt
     1921 gaagctttac aaggaatgtt cattcgcaaa gtttgtgctg ggagccagtc ttcacttgct
     1981 ttgacatcaa cagggcaggt ctatgcttgg ggctgtggag cttgtctagg ttgtggttct
     2041 tcagaagcta ctgctttgag acccaagctt attgaagaac tggctgccac aagaatagtt
     2101 gatgtttcta ttggagacag tcattgtttg gctctttctc atgataatga agtttatgcc
     2161 tggggcaata actcaatggg gcaatgtggt cagggaaatt ccacaggtcc tattactaaa
     2221 ccaaagaaag tgagtggctt agatggcata gctattcagc agatttcggc tggaacatca
     2281 catagtctgg catggactgc tcttcctagg gacagacaag ttgttgcatg gcaccgacct
     2341 tattgtgtag atcttgaaga gagtaccttc tcacacctgc gttcttttct tgagagatac
     2401 tgtgataaaa taaacagtga gattccccca ctccctttcc cttcatcaag agaacaccac
     2461 agttttctca agctgtgcct gaagctactt tcaaatcacc ttgctcttgc acttgcggga
     2521 ggggtagcta ccagcattct cgggaggcag gcaggtccac ttcgaaattt gctcttcaga
     2581 ctgatggact caactgtccc agatgaaatc caagaggtgg taattgaaac tttatcagtg
     2641 ggagcaacca tgctgttacc tccattacga gaacggatgg aattacttca ttctctttta
     2701 cctcaaggac ctgatagatg ggaaagctta tctaaaggac agagaatgca actggatatc
     2761 atcctgacaa gtttgcaaga tcatacccac gtagcctccc tacttggcta tagttcaccc
     2821 tctgatgctg ctgacctatc ttctgtgtgt actggctacg gaaatctgtc agatcaacct
     2881 tacggcactc agagctgcca tccagatacc cacctggctg aaattttgat gaagaccctc
     2941 ttaagaaatt taggatttta tacagatcaa gcatttggag agctagaaaa gaatagtgat
     3001 aaatttctac ttggaacatc atcatcagaa aacagtcagc ctgctcatct tcatgaactg
     3061 ctatgttcac tacagaaaca gctgctggca ttttgccata tcaataacat tagtgagaac
     3121 tcaagcagtg tggcattgct tcataaacat cttcagcttt tgttgcctca tgccacagat
     3181 atttattcac gttctgcaaa tttgctcaaa gaaagtcctt ggaatggcag tgttggagaa
     3241 aaattaagag atgtgatata cgtctcagct gctggcagta tgctctgcca gattgttaac
     3301 tccctgctgt tactccctgt gtcagtggct cggcctttat tgagttacct cctcgacttg
     3361 ttgccacctc ttgattgcct taatagactc ctgccagctg ctgatctttt agaagaccag
     3421 gagttacagt ggcctcttca tggagggcca gaactaattg atcctgctgg tctgccatta
     3481 cctcagccag ctcagtcctg ggtatggctt gtggatctag aaagaacaat tgctctcctt
     3541 attgggcggt gtcttggtgg catgcttcag ggctcccctg tgtctccaga ggaacaggac
     3601 actgcatatt ggatgaaaac gccactgttc agtgacggtg tagaaatgga cactcctcaa
     3661 ttggataaat gtatgagttg cctgttagaa gtagcacttt ctggaaatga agaacagaag
     3721 ccttttgatt ataaattgcg gcctgaaatt gctgtctatg tagacttggc attgggttgt
     3781 tctaaagagc ctgcccgaag cctttggatc agcatgcagg actatgctgt tagtaaagat
     3841 tgggacagtg caactttaag taatgagtca ctcttggaca ctgtgtctag atttgttctt
     3901 gcagctcttc tgaaacacac aaatttactt agtcaagcat gtggagaaag ccgatatcaa
     3961 cctggtaaac acttatcaga agtgtaccgt tgtgtataca aagttcgaag tcgtttactt
     4021 gcttgcaaga accttgaact tattcaaaca aggtcatcat cacgggacag atggatatca
     4081 gaaaaccagg actctgcaga tgttgatcct caggagcatt catttactcg aactattgat
     4141 gaagaagctg aaatggaaga acaggctgag agagaccggg aagaggggca tccggagcca
     4201 gaggatgaag aggaggaacg ggaacatgaa gtgatgacag ctggcaaaat ctttcagtgt
     4261 ttcctctcag cccgtgaagt agctcgtagc cgagaccgag atagaatgaa cagtggggca
     4321 gggtctgggg ctcgagctga tgatccacct cctcagtctc agcaagagcg aagggtcagc
     4381 acagaccttc ctgagggtca ggatgtgtac actgctgcat gcaactccgt gatccatcgg
     4441 tgtgccctgt taatattagg agtaagtcct gtgatagatg agcttcagaa gcgaagagaa
     4501 gaaggacagt tgcagcaacc ttcaacaagt gcctctgaag ggggtggact tatgaccagg
     4561 agtgaaagtc ttactgcaga gagccggcta gtccacacaa gcccaaatta tagactgatc
     4621 aaatcgagga gtgaatctga tttgtctcag cctgaatcag atgaagaggg ttacgcactg
     4681 agtggcagac aaaatgttga tttggatttg gcagcatctc acagaaagag aggtcctatg
     4741 cacagtcaat tggaatccct gagtgactct tgggctcgcc tgaaacatag cagagactgg
     4801 ttatgcaact cctcctattc ctttgagtca gattttgatc ttaccaagtc tttgggagtt
     4861 cacactttga ttgaaaatgt tgtaagcttt gtgagtggag atgtggggaa tgccccaggt
     4921 tttaaagagc cagaggaaag tatgtctaca agtccccagg cctccatcat tgcaatggaa
     4981 cagcagcagt taagggcaga acttcgttta gaggcacttc atcagatcct cgttctattg
     5041 tctgggatgg aagaaaaagg tagcatctca ctggcaggaa gcagattgag ttcaggcttc
     5101 cagtcctcca cactactcac gtctgtgagg ctgcagttcc tagcagggtg ttttggttta
     5161 ggcactgttg gacacacagg agccaaggga gagagtggcc gattgcatca ctatcaggat
     5221 gggatcagag cagctaagag aaatattcag attgaaatcc aggtagctgt gcataaaatt
     5281 tatcaacagt tgtctgctac cctggaaaga gccctgcaag caaacaagca tcacattgaa
     5341 gcccagcaac gtctgcttct ggttacagtt tttgccctaa gtgttcatta tcaaccagta
     5401 gatgtttctt tggcaatttc cactggtctg ctaaacgtat tgtcacagtt gtgtggtaca
     5461 gacaccatgc taggacagcc cctgcagttg ttgccaaaga cgggtgtttc ccagcttagc
     5521 acagctttga aagtggccag tacaaggttg ctccagattc tagccatcac tactgggacc
     5581 tatgctgata aactgagtcc caaagtagtt caatccttgt tggatctact ctgtagtcag
     5641 ttgaagaatt tattgtccca aactggtgta ctacatatgg cctctttcgg agaaggggag
     5701 caagaagacg gtgaagaaga agaaaaaaaa gttgactcca gtggagaaac tgagaagaaa
     5761 gatttcagag ctgctcttag gaaacaacat gcagccgaac tccatctagg ggatttttta
     5821 gtttttcttc gcagagttgt atcttcaaaa gcaattcaat caaaaatggc ttccccaaag
     5881 tggaccgaag tgcttctaaa tatagcatct cagaaatgtt cttcaggtat ccctctggtt
     5941 ggtaacttaa gaacaaggct ccttgcactt catgtccttg aagctgtgct gccagcttgt
     6001 gaatctggtg tagaagatga tcaaatggcc cagattgttg agcgcttatt ttcccttctc
     6061 tctgattgta tgtgggagac acccattgct caggccaaac atgctattca gataaaggaa
     6121 aaagaacaag aaataaaact acagaagcag ggcgagttgg aagaagaaga tgagaatctt
     6181 cctatccaag aagtatcctt tgacccggag aaagctcagt gttgcctagt ggagaatgga
     6241 cagattttaa ctcacggcag tggagggaaa ggatatggat tggcatctac aggagtaact
     6301 tctgggtgct atcagtggaa gttttatatt gtgaaggaaa acagaggtaa tgaaggcacg
     6361 tgtgttggag tttctcgctg gccagtacat gactttaatc accgcactac ctcggatatg
     6421 tggctctata gggcctacag tggtaacctc tatcacaatg gagaacagac tctcacattg
     6481 tccagcttta ctcaaggaga tttcattacc tgtgtgttag acatggaagc caggaccatt
     6541 tcttttggga aaaatggaga ggaacccaaa ttagcttttg aagatgtgga tgcagcagag
     6601 ttgtacccat gtgtgatgtt ctatagtagc aatccagggg aaaaggtgaa aatttgtgat
     6661 atgcagatgc gtggcacacc ccgagactta cttccaggag accctatttg tagtccagta
     6721 gcagcagtgc tggctgaggc cactattcag ctcgtccgta tccttcaccg aacagaccgt
     6781 tggacttact gcattaacaa aaaaatgatg gaaaggcttc acaaaattaa gatatgtatt
     6841 aaagagtcag gtcagaagct aaagaaaagc cgctcggttc agagccgaga ggaaaatgaa
     6901 atgagagagg agaaggagag caaagaggaa gagaaaggta aacatactag gcatggcctc
     6961 gctgacctct cagagctgca gctgaggact ctttgcatag aggtgtggcc cgtgctggct
     7021 gtgataggag gagttgatgc tggtcttaga gttggaggtc ggtgtgttca caagcaaact
     7081 gggcgccatg ccacgctgct gggagtggtc aaagagggca gcacgtctgc caaggtccaa
     7141 tgggatgaag cagaaattac tatcagcttc ccaacttttt ggtcgcctag tgatactcca
     7201 ttgtataatc tggaaccctg tgaaccattg ccgtttgatg tggcgcgatt ccgaggcctg
     7261 acggcttctg tgctgctgga cctaacatat ctcactggcg ttcatgaaga catgggcaaa
     7321 cagagcacca aacgacatga aaagaaacac cgacatgaat ccgaggagaa aggggatgtt
     7381 gagcagaaac ctgagagtga atccgcttta gatatgcgaa caggcctaac atctgatgac
     7441 gtcaaaagtc agagtaccac aagctccaaa tcagaaaatg aaatcgcttc attttcttta
     7501 gatccaacac tgccaagtgt ggaatcccaa catcaaataa cagaagggaa aagaaaaaat
     7561 catgaacaca tgtccaaaaa ccatgatgta gcccagtcag aaatcagagc agtccagctg
     7621 tcctatcttt acctcggtgc tatgaagtca cttagtgccc ttcttggctg tagtaaatat
     7681 gctgagctgt tgctgatacc aaaagttctg gctgaaaatg gccacaactc agactgtgca
     7741 agttctccag ttgttcatga agacgtggag atgcgagcag ccctgcagtt cttgatgcga
     7801 cacatggtga agcgagcagt catgcggtca cccataaaga gagcattggg attagctgat
     7861 ctggaacgag cgcaagccat gatctataaa ttagtggttc atgggctttt ggaagaccag
     7921 tttgggggca aaattaagca agagattgat caacaagctg aagaaagtga ccctgcccag
     7981 caggcacaga caccagttac tactagccca tcagcctcaa gcacgacctc ctttatgagc
     8041 agctctctgg aggacaccac aactgccacc actccagtca ctgacacaga aacagtgcct
     8101 gcatccgagt ccccgggagt gatgcctctt agtcttctca ggcaaatgtt ctctagttac
     8161 ccaactacca ctgtacttcc cacacgtcgg gcacagactc ctccaatatc ttcgttacca
     8221 acctctcctt ctgatgaagt aggaaggagg caaagtttaa cttctcctga ttcccagtca
     8281 gcaaggccag ctaaccgcac agccttgtca gacccaagca gtagactttc aacttctcct
     8341 cctcctccag caattgcagt tcccttgctg gaaatggggt tctctcttcg gcagattgcc
     8401 aaagccatgg aagctacagg tgctagggga gaggctgatg cccagaatat cactgtcctt
     8461 gccatgtgga tgatagagca ccctgggcat gaggatgaag aggagcccca gtcgggcagc
     8521 acagcagact ctaggcctgg agcagccgtt ctaggcagtg gcgggaagtc aaatgatccc
     8581 tgttatttgc agtcacctgg agacatacca tcagctgatg ctgctgaaat ggaggaaggt
     8641 tttagtgaaa gccctgataa tttggatcat acagagaatg cagcttctgg aagtggacca
     8701 tcagctagag gtcgctcagc ggtaacaaga agacacaagt ttgacttagc tgctcgcaca
     8761 ctgctagcaa gagcagcggg attataccgc tctgtgcagg cccacaggaa tcaaagtcgg
     8821 agagaaggaa tatctttgca gcaagaccca ggggcgttgt atgactttaa tttagatgag
     8881 gaattggaaa ttgatcttga tgatgaggcg atggaagcta tgtttggaca agacctgacc
     8941 agtgacaatg atattctggg aatgtggatc ccagaggtac tggattggcc tacctggcat
     9001 gtttgtgagt ctgaagacag ggaagaagtg gtggtgtgtg aactgtgtga atgcagcgtc
     9061 gtcagcttca atcagcacat gaagagaaac catccaggct gtgggcgcag tgcaaaccgc
     9121 cagggctatc gcagcaatgg ttcctatgtg gatggctggt ttggcggtga atgtgggagt
     9181 ggaaatccat actacctgtt atgtggcacc tgcagggaga agtacttagc catgaagacc
     9241 aaatctaagt caacaagttc tgaaaggtac aagggacaag ctccagatct aattggcaag
     9301 caagacagtg tgtatgaaga agactgggac atgttggatg ttgatgaaga tgaaaagcta
     9361 actggtgaag aagaatttga attacttgct ggaccgcttg gtttaaatga ccggcgcatt
     9421 gtaccagaac cagttcagtt ccctgacagc gatccactgg gagcatcagt agcaatggtc
     9481 acagccacca acagtatgga agagactctg atgcaaatag gttgccatgg ctccgtagaa
     9541 aagagctcct ctgggagaat aacgttagga gagcaggcag ctgccctagc aaaccctcat
     9601 gaccgtgtgg tggctttaag gagagtgact gctgctgctc aggttcttct ggccagaacc
     9661 atggtcatga gagcgctgtc tcttctctca gtcagtggtt ccagttgtag cctggctgct
     9721 ggtcttgagt ctctggggct aacagatatc cgaacgctag ttcgattaat gtgcttggca
     9781 gcagcaggga gagctggcct ctccaccagc ccttctgcca tggctagcac ctcagaacga
     9841 tcacgaggtg ggcatagcaa ggctaacaag cctatctctt gcctggccta tttgagcaca
     9901 gcagtgggat gtctggcatc aaatgctcct agtgctgcca aactgcttgt acagttgtgt
     9961 acacagaact tgatttctgc tgcaacaggt gtaaatctaa ccacagttga tgactcaatt
    10021 cagcgaaagt ttctacccag ctttctccga ggaattgctg aagagaacaa gcttgtgacc
    10081 tccccaaact ttgttgtaac acaggccctt gtggcattgc tagcagacaa aggggccaaa
    10141 ctaagaccta actatgataa gtcagaagtt gaaaagaaag gccctctgga gttggctaat
    10201 gccctggcag cctgctgcct ctcctccagg ctgtcctcac agcatcggca atgggcagct
    10261 cagcaactcg tgcgcactct tgctgcacac gaccgtgaca accaaactac tctgcagaca
    10321 cttgctgata tgggaggaga tcttagaaaa tgctccttta tcaaattgga ggctcatcag
    10381 aacagagtaa tgacatgtgt ttggtgtaat aaaaaaggtc ttttggctac aagtggcaat
    10441 gatggcacca tccgcgtatg gaatgttacc aagaagcaat attcactgca acagacctgt
    10501 gtgttcaaca gattggaagg ggatgctgag gaaagcctgg gatcacccag tgatccaagt
    10561 ttctcaccag tttcctggag tatcagtggc aaatatctag caggcgcttt ggaaaagatg
    10621 gtgaatatct ggcaagttaa tggaggaaaa ggattagtag atattcagcc tcattgggta
    10681 tctgccctgg cttggccaga agagggtccg gctacagcct ggtcaggaga gtctccagaa
    10741 ttgttgttgg tgggacggat ggatggatct ctgggactga ttgaagttgt tgatgtgtcc
    10801 accatgcacc gtcgagaatt ggagcattgc tatcgaaagg atgtgtctgt tacttgcatt
    10861 gcatggttca gtgaagacag accatttgca gtgggatatt ttgatggaaa actgttactg
    10921 ggaacaaagg aaccacttga gaaaggaggc attgttctaa ttgatgcaca taaggatact
    10981 cttattagca tgaagtggga ccctacaggt catattctta tgacatgtgc caaagaagac
    11041 agtgtgaaac tctggggctc tatttcggga tgctggtgct gtctacattc actctgccat
    11101 ccatctattg taaatggcat tgcttggtgc cgccttccag ggaaaggatc caagttgcag
    11161 ttactgatgg ctactggctg tcagagtggc ttagtatgtg tttggcgcat tcctcaagat
    11221 actacacaga ccaatgtgac tagtgcagaa ggatggtggg accaggaatc aaattgccag
    11281 gatggatata ggaaatcatc aggagccaag tgtgtttatc agctgcgggg acacatcact
    11341 cctgttcgga ctgttgcctt tagttctgat gggttggccc tggtgtctgg tggactaggt
    11401 gggctcatga acatttggtc tttaagggat ggctctgtct tgcaaactgt tgtgataggc
    11461 tctggagcta ttcagaccac agtatggatt ccagaagttg gagtagctgc ttgctcaaat
    11521 agatcaaagg atgttttggt cgtgaattgt acagcagaat gggcagctgc caatcatgtt
    11581 ttggcaacct gtaggacagc attgaaacag cagggtgttc tgggattgaa catggctccc
    11641 tgcatgagag catttttgga gcggctcccc atgatgcttc aggagcagta tgcctatgaa
    11701 aagcctcatg tggtttgtgg tgaccaactt gttcatagcc cctatatgca atgcttggct
    11761 tcccttgctg tgggacttca tctggatcag ctgttgtgta accctccagt gccaccacac
    11821 caccagaact gtctgcctga ccctgcatcc tggaatccaa atgaatgggc ctggttagaa
    11881 tgtttctcaa ccactataaa agctgccgaa gccctgacca atggagccca gtttccagaa
    11941 tcttttaccg ttccagatct agaacctgtt ccagaggatg aacttgtatt tctaatggat
    12001 aacagtaaat ggattaacgg catggatgaa caaattatgt cttgggcaac ttccagacct
    12061 gaggactggc acctgggagg taaatgtgat gtctacttat ggggtgctgg taggcatgga
    12121 cagctggcag aagctggaag aaatgtaatg gtacctgcag cagctccctc attctcacag
    12181 gcccaacagg tcatttgtgg tcagaattgt acctttgtca tccaggccaa tggcacagtg
    12241 ttggcttgtg gggaaggaag ttatggcaga ttaggacaag gaaattcaga tgaccttcat
    12301 gtgctgacag ttatttcagc cttacaaggc tttgtggtga cccagctggt gacttcctgt
    12361 ggttctgatg ggcactctat ggccctaact gaaagtggtg aggtctttag ctggggagat
    12421 ggtgactatg gtaaacttgg ccatgggaac agcgacaggc agcggcggcc caggcagatc
    12481 gaggccttac aaggagaaga agtggtgcag atgtcttgtg gcttcaagca ctcagcagtg
    12541 gtcacttcag atggcaaact gttcaccttt gggaatggtg actatggtcg tctgggtctt
    12601 ggaaatacct ctaacaaaaa acttccagag agagtgactg cactggaggg atatcagatt
    12661 ggacaggtgg cctgtggatt aaaccacact ttggcagtgt cagcagatgg ttccatggtg
    12721 tgggcttttg gagatggaga ctatggaaaa ctaggcttag gaaattccac tgcaaaatct
    12781 tcacctcaga aaattgacgt cctttgtgga attggaataa aaaaggttgc ttgtggaact
    12841 cagttttctg ttgctttgac caaagatggt catgtgtata cctttggtca agatcgcctg
    12901 ataggcttgc cagaggggcg tgctcgcaat cacaatcgac cgcaacaaat ccctgtcctg
    12961 gctggagtaa tcattgaaga tgtggcagtt ggagctgaac acacacttgc tttggcatca
    13021 aatggagatg tgtatgcctg ggggagcaat tcagaagggc agctcggctt aggccatacc
    13081 aaccatgttc gagaaccaac cctggtaaca ggtctgcaag ggaaaaatgt tcggcagatc
    13141 tcggctggcc gctgccacag tgctgcatgg acagcaccac ctgtcccacc aagagcacca
    13201 ggtgtgtcag tacctctgca gctgggcctg cctgacacag tgccccccca gtatggggcg
    13261 ctgagagaag tcagcattca cacggtgcgg gccaggctcc ggctgctcta ccacttctct
    13321 gacctcatgt actcatcctg gagactgctg aaccttagcc ccaacaacca gaacagcaca
    13381 tcccattata atgctggaac ttggggcatt gtacagggac aacttcggcc tttgttagcc
    13441 ccaagagtct acactctgcc aatggtgcgc tccataggaa aaaccatggt tcaaggcaaa
    13501 aactatggac ctcagataac tgtaaagagg atatcaacca gaggacggaa gtgtaagcct
    13561 atttttgtcc aaatagcgag acaagtagtt aagctgaatg cttcagacct ccgcctgcct
    13621 tcccgagcgt ggaaggttaa gctggttgga gaaggggctg atgatgctgg aggagtgttt
    13681 gatgacacca tcacagagat gtgccaggaa cttgaaactg gtattgttga ccttcttata
    13741 ccctctccca atgccaccgc agaagtgggt tacaataggg acaggttcct ttttaaccct
    13801 tctgcctgcc tcgatgaaca cttaatgcag tttaagtttt taggaatttt aatgggggtt
    13861 gccattcgca caaagaagcc tctggacctc cacttggccc ctctggtgtg gaagcagctg
    13921 tgctgtgtcc cactcaccct agaggacctg gaggaggtgg atctgctcta cgtgcagact
    13981 ctcaacagca ttcttcacat tgaagacagt gggattaccg aggagagttt ccatgagatg
    14041 attcctcttg attcttttgt tggccagagt gctgatggca aaatggttcc tataatccct
    14101 ggtggaaata gtatcccact cacattttcc aacaggaagg aatatgtgga gagggccatt
    14161 gaatatcgac ttcatgagat ggacagacag gtggctgcag tccgagaagg gatgtcctgg
    14221 attgttcctg tgccgctgct gtccctcctc acagcaaaac aactggagca gatggtgtgt
    14281 gggatgcccg agatctctgt ggaagtcttg aagaaagtgg tgcggtaccg tgaggtggat
    14341 gagcagcatc agctggtgca gtggttctgg cacacgctgg aagagttctc caatgaggag
    14401 cgggtgcttt tcatgaggtt tgtgtcagga agatctcgac taccagccaa cactgctgac
    14461 atttctcaga gatttcaaat catgaaggtt gataggcctt acgacagtct gcctacctca
    14521 cagacctgct tcttccagct gaggctgccc ccgtactcca gccagctggt catggccgag
    14581 cgcctgcgct atgccatcaa caactgccgc tcaatcgaca tggacaacta catgctctcg
    14641 agaaacgtgg acaacgccga gggctccgac actgactact gaccgtgcgg gtgctctcac
    14701 cctcccttct ctccctcaat aatgctcact tctgatttga tgttgatata cttttatggt
    14761 aactacatag atgttataag aacataaacc aacattataa acaatggcca catttagtta
    14821 ctctaaatgt aacaaagaaa ttagatgttt ttatttttct gtgattgtac aaaaacaaca
    14881 aaaacgaagt gctctcagtc aggtttttcc ctccatattt ttggtcactt ttgataagtt
    14941 tgcatgaaac cattttggtg catttttagt tgggaatggt acatttttgt aaatccaccc
    15001 agtgaacatg aaattgtaca ttgtgtataa ttgttcatta gaaaggacag ttttacatga
    15061 atattcatat atttattttg ttttaatttg aattgcctgt tcagggttcc ttatgcagag
    15121 aaataaagca gattcaggaa ttggaaaaaa aaaaaaaaaa aaaa
//



Revised: July 5, 2002.
 
 


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1: NM_005606. Homo sapiens legu...[gi:21914880] Links  


LOCUS       LGMN                    1981 bp    mRNA    linear   PRI 22-JUL-2002
DEFINITION  Homo sapiens legumain (LGMN), mRNA.
ACCESSION   NM_005606
VERSION     NM_005606.3  GI:21914880
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1981)
  AUTHORS   Tanaka,T., Inazawa,J. and Nakamura,Y.
  TITLE     Molecular cloning of a human cDNA encoding putative cysteine
            protease (PRSC1) and its chromosome assignment to 14q32.1
  JOURNAL   Cytogenet. Cell Genet. 74 (1-2), 120-123 (1996)
  MEDLINE   97049087
   PUBMED   8893817
REFERENCE   2  (bases 1 to 1981)
  AUTHORS   Chen,J.M., Dando,P.M., Rawlings,N.D., Brown,M.A., Young,N.E.,
            Stevens,R.A., Hewitt,E., Watts,C. and Barrett,A.J.
  TITLE     Cloning, isolation, and characterization of mammalian legumain, an
            asparaginyl endopeptidase
  JOURNAL   J. Biol. Chem. 272 (12), 8090-8098 (1997)
  MEDLINE   97218252
   PUBMED   9065484
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC003061.1.
            On Jul 22, 2002 this sequence version replaced gi:19923331.
FEATURES             Location/Qualifiers
     source          1..1981
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.1"
                     /clone="MGC:1395 IMAGE:3504506"
                     /tissue_type="Placenta, choriocarcinoma"
                     /clone_lib="NIH_MGC_21"
                     /lab_host="DH10B-R"
                     /note="Vector: pOTB7"
     gene            1..1981
                     /gene="LGMN"
                     /note="PRSC1"
                     /db_xref="LocusID:5641"
                     /db_xref="MIM:602620"
     CDS             142..1443
                     /gene="LGMN"
                     /note="protease, cysteine, 1 (legumain)"
                     /codon_start=1
                     /product="legumain"
                     /protein_id="NP_005597.2"
                     /db_xref="GI:21914881"
                     /db_xref="LocusID:5641"
                     /db_xref="MIM:602620"
                     /translation="MVWKVAVFLSVALGIGAIPIDDPEDGGKHWVVIVAGSNGWYNYR
                     HQADACHAYQIIHRNGIPDEQIVVMMYDDIAYSEDNPTPGIVINRPNGTDVYQGVPKD
                     YTGEDVTPQNFLAVLRGDAEAVKGIGSGKVLKSGPQDHVFIYFTDHGSTGILVFPNED
                     LHVKDLNETIHYMYKHKMYRKMVFYIEACESGSMMNHLPDNINVYATTAANPRESSYA
                     CYYDEKRSTYLGDWYSVNWMEDSDVEDLTKETLHKQYHLVKSHTNTSHVMQYGNKTIS
                     TMKVMQFQGMKRKASSPVPLPPVTHLDLTPSPDVPLTIMKRKLMNTNDLEESRQLTEE
                     IQRHLDARHLIEKSVRKIVSLLAASEAEVEQLLSERAPLTGHSCYPEALLHFRTHCFN
                     WHSPTYEYALRHLYVLVNLCEKPYPLHRIKLSMDHVCLGHY"
     misc_feature    157..1122
                     /gene="LGMN"
                     /note="Region: pfam01650, Peptidase_C13, Peptidase C13
                     family. This family of peptidases is known as the
                     hemoglobinase family because it contains a globin
                     degrading enzyme from blood parasites. However relatives
                     are found in plants and other organisms that have other
                     functions. Members of this family are asparaginyl
                     peptidases"
     variation       193
                     /gene="LGMN"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2236264"
     variation       1034
                     /gene="LGMN"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1803450"
     variation       1272
                     /gene="LGMN"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:2281705"
     variation       1392
                     /gene="LGMN"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:9791"
     variation       1392
                     /gene="LGMN"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3185144"
     variation       1730
                     /gene="LGMN"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:10465"
     variation       1778
                     /gene="LGMN"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1803451"
     variation       1917
                     /gene="LGMN"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1803449"
BASE COUNT      527 a    505 c    493 g    456 t
ORIGIN      
        1 ggcacgaggg aggctgcgag ccgccgcgag ttctcacggt cccgccggcg ccaccaccgc
       61 ggtcactcac cgccgccgcc gccaccactg ccaccacggt cgcctgccac aggtgtctgc
      121 aattgaactc caaggtgcag aatggtttgg aaagtagctg tattcctcag tgtggccctg
      181 ggcattggtg ccattcctat agatgatcct gaagatggag gcaagcactg ggtggtgatc
      241 gtggcaggtt caaatggctg gtataattat aggcaccagg cagacgcgtg ccatgcctac
      301 cagatcattc accgcaatgg gattcctgac gaacagatcg ttgtgatgat gtacgatgac
      361 attgcttact ctgaagacaa tcccactcca ggaattgtga tcaacaggcc caatggcaca
      421 gatgtctatc agggagtccc gaaggactac actggagagg atgttacccc acaaaatttc
      481 cttgctgtgt tgagaggcga tgcagaagca gtgaagggca taggatccgg caaagtcctg
      541 aagagtggcc cccaggatca cgtgttcatt tacttcactg accatggatc tactggaata
      601 ctggtttttc ccaatgaaga tcttcatgta aaggacctga atgagaccat ccattacatg
      661 tacaaacaca aaatgtaccg aaagatggtg ttctacattg aagcctgtga gtctgggtcc
      721 atgatgaacc acctgccgga taacatcaat gtttatgcaa ctactgctgc caaccccaga
      781 gagtcgtcct acgcctgtta ctatgatgag aagaggtcca cgtacctggg ggactggtac
      841 agcgtcaact ggatggaaga ctcggacgtg gaagatctga ctaaagagac cctgcacaag
      901 cagtaccacc tggtaaaatc gcacaccaac accagccacg tcatgcagta tggaaacaaa
      961 acaatctcca ccatgaaagt gatgcagttt cagggtatga aacgcaaagc cagttctccc
     1021 gtccccctac ctccagtcac acaccttgac ctcaccccca gccctgatgt gcctctcacc
     1081 atcatgaaaa ggaaactgat gaacaccaat gatctggagg agtccaggca gctcacggag
     1141 gagatccagc ggcatctgga tgccaggcac ctcattgaga agtcagtgcg taagatcgtc
     1201 tccttgctgg cagcgtccga ggctgaggtg gagcagctcc tgtccgagag agccccgctc
     1261 acggggcaca gctgctaccc agaggccctg ctgcacttcc ggacccactg cttcaactgg
     1321 cactccccca cgtacgagta tgcgttgaga catttgtacg tgctggtcaa cctttgtgag
     1381 aagccgtatc cacttcacag gataaaattg tccatggacc acgtgtgcct tggtcactac
     1441 tgaagagctg cctcctggaa gcttttccaa gtgtgagcgc cccaccgact gtgtgctgat
     1501 cagagactgg agaggtggag tgagaagtct ccgctgctcg ggccctcctg gggagccccc
     1561 gctccagggc tcgctccagg accttcttca caagatgact tgctcgctgt tacctgcttc
     1621 cccagtcttt tctgaaaaac tacaaattag ggtgggaaaa gctctgtatt gagaagggtc
     1681 atatttgctt tctaggaggt ttgttgtttt gcctgttagt tttgaggagc aggaagctca
     1741 tgggggcttc tgtagcccct ctcaaaagga gtctttattc tgagaatttg aagctgaaac
     1801 ctctttaaat cttcagaatg attttattga agagggccgc aagccccaaa tggaaaactg
     1861 tttttagaaa atatgatgat ttttgattgc ttttgtattt aattctgcag gtgttcaagt
     1921 cttaaaaaat aaagatttat aacagaaccc aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa
     1981 a
//



Revised: July 5, 2002.
 
 


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1: NM_005868. Homo sapiens BET1...[gi:13027634] Links  


LOCUS       BET1                     606 bp    mRNA    linear   PRI 20-DEC-2001
DEFINITION  Homo sapiens BET1 homolog (S. cerevisiae) (BET1), mRNA.
ACCESSION   NM_005868
VERSION     NM_005868.2  GI:13027634
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 606)
  AUTHORS   Hay,J.C., Hirling,H. and Scheller,R.H.
  TITLE     Mammalian vesicle trafficking proteins of the endoplasmic reticulum
            and Golgi apparatus
  JOURNAL   J. Biol. Chem. 271 (10), 5671-5679 (1996)
  MEDLINE   96215028
   PUBMED   8621431
REFERENCE   2  (bases 1 to 606)
  AUTHORS   Zhang,T., Wong,S.H., Tang,B.L., Xu,Y., Peter,F., Subramaniam,V.N.
            and Hong,W.
  TITLE     The mammalian protein (rbet1) homologous to yeast Bet1p is
            primarily associated with the pre-Golgi intermediate compartment
            and is involved in vesicular transport from the endoplasmic
            reticulum to the Golgi apparatus
  JOURNAL   J. Cell Biol. 139 (5), 1157-1168 (1997)
  MEDLINE   98044220
   PUBMED   9382863
REFERENCE   3  (bases 1 to 606)
  AUTHORS   Waters,M.G. and Pfeffer,S.R.
  TITLE     Membrane tethering in intracellular transport
  JOURNAL   Curr. Opin. Cell Biol. 11 (4), 453-459 (1999)
  MEDLINE   99379903
   PUBMED   10449330
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF007551.1.
            On Feb 21, 2001 this sequence version replaced gi:5031610.
            Summary: The protein encoded by this gene is a homolog of yeast
            Bet1 protein which is a golgi-associated protein that participates
            in vesicular transport from the endoplasmic reticulum (ER) to the
            Golgi apparatus. Studies with the rat homolog suggest that it is
            localized in the vesicular structures, and may be involved in the
            docking process of ER-derived vesicles with the cis-Golgi membrane.
FEATURES             Location/Qualifiers
     source          1..606
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.1-q22"
     gene            1..606
                     /gene="BET1"
                     /note="HBET1"
                     /db_xref="LocusID:10282"
                     /db_xref="MIM:605456"
     CDS             120..476
                     /gene="BET1"
                     /note="Bet1 (S. cerevisiae) homolog; Bet1p homolog"
                     /codon_start=1
                     /product="Golgi vesicular membrane trafficking protein
                     p18"
                     /protein_id="NP_005859.1"
                     /db_xref="GI:5031611"
                     /db_xref="LocusID:10282"
                     /db_xref="MIM:605456"
                     /translation="MRRAGLGEGVPPGNYGNYGYANSGYSACEEENERLTESLRSKVT
                     AIKSLSIEIGHEVKTQNKLLAEMDSQFDSTTGFLGKTMGKLKILSRGSQTKLLCYMML
                     FSLFVFFIIYWIIKLR"
     misc_feature    204..377
                     /gene="BET1"
                     /note="t_SNARE; Region: Helical region found in SNAREs"
                     /db_xref="CDD:smart00397"
     variation       complement(560)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2286845"
BASE COUNT      170 a    117 c    136 g    183 t
ORIGIN      
        1 ggggaagaag ttggtgtttc gctgggccct ggtactgaag acgcggtccg ggtcgcccct
       61 agctgtttcc tactcaccca aagccccgca cccgcctttt ctctctctcc tctggcagga
      121 tgaggcgtgc aggcctgggt gaaggagtac ctcctggcaa ctatgggaac tatggctatg
      181 ctaatagtgg gtatagtgcc tgtgaagaag aaaatgagag gctcactgaa agtctgagaa
      241 gcaaagtaac tgctataaaa tctctttcca ttgaaatagg ccatgaagtt aaaacccaga
      301 ataaattatt agctgaaatg gattcacaat ttgattccac aactggattt ctaggtaaaa
      361 ctatgggcaa actgaagatt ttatccagag ggagccaaac aaagctgctg tgctatatga
      421 tgctgttttc tttatttgtc ttttttatca tttattggat tattaaactg aggtgatgca
      481 tgtaattgtg aatttggaat ttgttccaac ttaatggctt gcagtaccac tttgataaaa
      541 atcagcatca aaacattcct agtgttcaaa tactgtggca ttttccattg aaaattgctg
      601 aatttt
//



Revised: July 5, 2002.
 
 


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NCBI | NLM | NIH 

 

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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_004530. Homo sapiens matr...[gi:11342665] Links  


LOCUS       MMP2                    3069 bp    mRNA    linear   PRI 07-SEP-2002
DEFINITION  Homo sapiens matrix metalloproteinase 2 (gelatinase A, 72kDa
            gelatinase, 72kDa type IV collagenase) (MMP2), mRNA.
ACCESSION   NM_004530
VERSION     NM_004530.1  GI:11342665
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3069)
  AUTHORS   Collier,I.E., Wilhelm,S.M., Eisen,A.Z., Marmer,B.L., Grant,G.A.,
            Seltzer,J.L., Kronberger,A., He,C.S., Bauer,E.A. and Goldberg,G.I.
  TITLE     H-ras oncogene-transformed human bronchial epithelial cells (TBE-1)
            secrete a single metalloprotease capable of degrading basement
            membrane collagen
  JOURNAL   J. Biol. Chem. 263 (14), 6579-6587 (1988)
  MEDLINE   88198218
   PUBMED   2834383
REFERENCE   2  (bases 1 to 3069)
  AUTHORS   Huhtala,P., Eddy,R.L., Fan,Y.S., Byers,M.G., Shows,T.B. and
            Tryggvason,K.
  TITLE     Completion of the primary structure of the human type IV
            collagenase preproenzyme and assignment of the gene (CLG4) to the
            q21 region of chromosome 16
  JOURNAL   Genomics 6 (3), 554-559 (1990)
  MEDLINE   90228972
   PUBMED   2158484
REFERENCE   3  (bases 1 to 3069)
  AUTHORS   Huhtala,P., Chow,L.T. and Tryggvason,K.
  TITLE     Structure of the human type IV collagenase gene
  JOURNAL   J. Biol. Chem. 265 (19), 11077-11082 (1990)
  MEDLINE   90293047
   PUBMED   2162831
REFERENCE   4  (bases 1 to 3069)
  AUTHORS   Levy,A.T., Cioce,V., Sobel,M.E., Garbisa,S., Grigioni,W.F.,
            Liotta,L.A. and Stetler-Stevenson,W.G.
  TITLE     Increased expression of the Mr 72,000 type IV collagenase in human
            colonic adenocarcinoma
  JOURNAL   Cancer Res. 51 (1), 439-444 (1991)
  MEDLINE   91105673
   PUBMED   1846313
REFERENCE   5  (bases 1 to 3069)
  AUTHORS   Collier,I.E., Bruns,G.A., Goldberg,G.I. and Gerhard,D.S.
  TITLE     On the structure and chromosome location of the 72- and 92-kDa
            human type IV collagenase genes
  JOURNAL   Genomics 9 (3), 429-434 (1991)
  MEDLINE   91236162
   PUBMED   1851724
REFERENCE   6  (bases 1 to 3069)
  AUTHORS   Chen, L.Z., Harris, P.C., Apostolou, S., Baker, E., Holman, K.,
            Lane, S.A., Nancarrow, J.K., Whitmore, S.A., Stallings, R.L.,
            Hildebrand, C.E. et al.
  TITLE     A refined physical map of the long arm of human chromosome 16
  JOURNAL   Genomics 10 (2), 308-312 (1991)
  MEDLINE   91301684
   PUBMED   2071140
REFERENCE   7  (bases 1 to 3069)
  AUTHORS   Devarajan,P., Johnston,J.J., Ginsberg,S.S., Van Wart,H.E. and
            Berliner,N.
  TITLE     Structure and expression of neutrophil gelatinase cDNA. Identity
            with type IV collagenase from HT1080 cells
  JOURNAL   J. Biol. Chem. 267 (35), 25228-25232 (1992)
  MEDLINE   93094232
   PUBMED   1460022
REFERENCE   8  (bases 1 to 3069)
  AUTHORS   Libson,A.M., Gittis,A.G., Collier,I.E., Marmer,B.L., Goldberg,G.I.
            and Lattman,E.E.
  TITLE     Crystal structure of the haemopexin-like C-terminal domain of
            gelatinase A
  JOURNAL   Nat. Struct. Biol. 2 (11), 938-942 (1995)
  MEDLINE   96069777
   PUBMED   7583664
REFERENCE   9  (bases 1 to 3069)
  AUTHORS   Massova,I., Kotra,L.P., Fridman,R. and Mobashery,S.
  TITLE     Matrix metalloproteinases: structures, evolution, and
            diversification
  JOURNAL   FASEB J. 12 (12), 1075-1095 (1998)
  MEDLINE   98407729
   PUBMED   9737711
REFERENCE   10 (bases 1 to 3069)
  AUTHORS   Morgunova,E., Tuuttila,A., Bergmann,U., Isupov,M., Lindqvist,Y.,
            Schneider,G. and Tryggvason,K.
  TITLE     Structure of human pro-matrix metalloproteinase-2: activation
            mechanism revealed
  JOURNAL   Science 284 (5420), 1667-1670 (1999)
  MEDLINE   99286304
   PUBMED   10356396
REFERENCE   11 (bases 1 to 3069)
  AUTHORS   Nagase,H. and Woessner,J.F. Jr.
  TITLE     Matrix metalloproteinases
  JOURNAL   J. Biol. Chem. 274 (31), 21491-21494 (1999)
  MEDLINE   99348265
   PUBMED   10419448
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M58552.1.
            Summary: Proteins of the matrix metalloproteinase (MMP) family are
            involved in the breakdown of extracellular matrix in normal
            physiological processes, such as embryonic development,
            reproduction, and tissue remodeling,as well as in disease
            processes, such as arthritis and metastasis. Most MMP's are
            secreted as inactive proproteins which are activated when cleaved
            by extracellular proteinases. This gene encodes an enzyme which
            degrades type IV collagen, the major structural component of
            basement membranes. The enzyme plays a role in endometrial
            menstrual breakdown, regulation of vascularization and the
            inflammatory response.
FEATURES             Location/Qualifiers
     source          1..3069
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q13-q21"
     gene            1..3069
                     /gene="MMP2"
                     /note="CLG4; CLG4A; TBE-1"
                     /db_xref="LocusID:4313"
                     /db_xref="MIM:120360"
     misc_feature    11
                     /gene="MMP2"
                     /note="alternative transcription start site"
     variation       complement(199)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:187228"
     variation       229
                     /gene="MMP2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2287073"
     CDS             290..2272
                     /gene="MMP2"
                     /EC_number="3.4.24.24"
                     /note="gelatinase A; 72kD type IV collagenase; gelatinase
                     neutrophil"
                     /codon_start=1
                     /product="matrix metalloproteinase 2 preproprotein"
                     /protein_id="NP_004521.1"
                     /db_xref="GI:11342666"
                     /db_xref="LocusID:4313"
                     /db_xref="MIM:120360"
                     /translation="MEALMARGALTGPLRALCLLGCLLSHAAAAPSPIIKFPGDVAPK
                     TDKELAVQYLNTFYGCPKESCNLFVLKDTLKKMQKFFGLPQTGDLDQNTIETMRKPRC
                     GNPDVANYNFFPRKPKWDKNQITYRIIGYTPDLDPETVDDAFARAFQVWSDVTPLRFS
                     RIHDGEADIMINFGRWEHGDGYPFDGKDGLLAHAFAPGTGVGGDSHFDDDELWTLGEG
                     QVVRVKYGNADGEYCKFPFLFNGKEYNSCTDTGRSDGFLWCSTTYNFEKDGKYGFCPH
                     EALFTMGGNAEGQPCKFPFRFQGTSYDSCTTEGRTDGYRWCGTTEDYDRDKKYGFCPE
                     TAMSTVGGNSEGAPCVFPFTFLGNKYESCTSAGRSDGKMWCATTANYDDDRKWGFCPD
                     QGYSLFLVAAHEFGHAMGLEHSQDPGALMAPIYTYTKNFRLSQDDIKGIQELYGASPD
                     IDLGTGPTPTLGPVTPEICKQDIVFDGIAQIRGEIFFFKDRFIWRTVTPRDKPMGPLL
                     VATFWPELPEKIDAVYEAPQEEKAVFFAGNEYWIYSASTLERGYPKPLTSLGLPPDVQ
                     RVDAAFNWSKNKKTYIFAGDKFWRYNEVKKKMDPGFPKLIADAWNAIPDNLDAVVDLQ
                     GGGHSYFFKGAYYLKLENQSLKSVKFGSIKSDWLGC"
     sig_peptide     290..376
                     /gene="MMP2"
     misc_feature    383..607
                     /gene="MMP2"
                     /note="Region: pfam03933, Peptidase_M10_N, Matrix
                     metalloprotease, N-terminal domain. This family is found
                     N-terminal to the catalytic domain of matrixin"
     mat_peptide     617..2269
                     /gene="MMP2"
                     /product="matrix metalloproteinase 2"
     misc_feature    623..943
                     /gene="MMP2"
                     /note="Region: pfam00413, Peptidase_M10, Matrixin. The
                     members of this family are enzymes that cleave peptides.
                     These proteases require zinc for catalysis"
     misc_feature    632..979
                     /gene="MMP2"
                     /note="Region: smart00235, ZnMc, Zinc-dependent
                     metalloprotease; Neutral zinc metallopeptidases. This
                     alignment represents a subset of known subfamilies.
                     Highest similarity occurs in the HExxH zinc-binding site/
                     active site"
     misc_feature    965..1111
                     /gene="MMP2"
                     /note="Region: smart00059, FN2, Fibronectin type 2 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. Also occurs in coagulation factor
                     XII, 2 type IV collagenases, PDC-109, and
                     cation-independent mannose-6-phosphate and secretory
                     phospholipase A2 receptors. In fibronectin, PDC-109, and
                     the collagenases, this domain contributes to
                     collagen-binding function"
     misc_feature    986..1111
                     /gene="MMP2"
                     /note="Region: pfam00040, fn2, Fibronectin type II domain"
     misc_feature    1139..1285
                     /gene="MMP2"
                     /note="Region: smart00059, FN2, Fibronectin type 2 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. Also occurs in coagulation factor
                     XII, 2 type IV collagenases, PDC-109, and
                     cation-independent mannose-6-phosphate and secretory
                     phospholipase A2 receptors. In fibronectin, PDC-109, and
                     the collagenases, this domain contributes to
                     collagen-binding function"
     misc_feature    1160..1285
                     /gene="MMP2"
                     /note="Region: pfam00040, fn2, Fibronectin type II domain"
     misc_feature    1313..1459
                     /gene="MMP2"
                     /note="Region: smart00059, FN2, Fibronectin type 2 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. Also occurs in coagulation factor
                     XII, 2 type IV collagenases, PDC-109, and
                     cation-independent mannose-6-phosphate and secretory
                     phospholipase A2 receptors. In fibronectin, PDC-109, and
                     the collagenases, this domain contributes to
                     collagen-binding function"
     misc_feature    1334..1459
                     /gene="MMP2"
                     /note="Region: pfam00040, fn2, Fibronectin type II domain"
     misc_feature    1436..1630
                     /gene="MMP2"
                     /note="Region: smart00235, ZnMc, Zinc-dependent
                     metalloprotease; Neutral zinc metallopeptidases. This
                     alignment represents a subset of known subfamilies.
                     Highest similarity occurs in the HExxH zinc-binding site/
                     active site"
     misc_feature    1712..1840
                     /gene="MMP2"
                     /note="Region: smart00120, HX, Hemopexin-like repeats;
                     Hemopexin is a heme-binding protein that transports heme
                     to the liver. Hemopexin-like repeats occur in vitronectin
                     and some matrix metalloproteinases family (matrixins). The
                     HX repeats of some matrixins bind tissue inhibitor of
                     metalloproteinases (TIMPs)"
     misc_feature    1712..1828
                     /gene="MMP2"
                     /note="Region: pfam00045, hemopexin, Hemopexin. Hemopexin
                     is a heme-binding protein that transports heme to the
                     liver. Hemopexin-like repeats occur in vitronectin and
                     some matrix metallopeptidases family (matrixins). The HX
                     repeats of some matrixins bind tissue inhibitor of
                     metallopeptidases (TIMPs)"
     misc_feature    1847..1978
                     /gene="MMP2"
                     /note="Region: pfam00045, hemopexin, Hemopexin. Hemopexin
                     is a heme-binding protein that transports heme to the
                     liver. Hemopexin-like repeats occur in vitronectin and
                     some matrix metallopeptidases family (matrixins). The HX
                     repeats of some matrixins bind tissue inhibitor of
                     metallopeptidases (TIMPs)"
     misc_feature    1991..2131
                     /gene="MMP2"
                     /note="Region: smart00120, HX, Hemopexin-like repeats;
                     Hemopexin is a heme-binding protein that transports heme
                     to the liver. Hemopexin-like repeats occur in vitronectin
                     and some matrix metalloproteinases family (matrixins). The
                     HX repeats of some matrixins bind tissue inhibitor of
                     metalloproteinases (TIMPs)"
     misc_feature    1991..2119
                     /gene="MMP2"
                     /note="Region: pfam00045, hemopexin, Hemopexin. Hemopexin
                     is a heme-binding protein that transports heme to the
                     liver. Hemopexin-like repeats occur in vitronectin and
                     some matrix metallopeptidases family (matrixins). The HX
                     repeats of some matrixins bind tissue inhibitor of
                     metallopeptidases (TIMPs)"
     variation       complement(368)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:243863"
     misc_feature    377..2269
                     /gene="MMP2"
                     /note="matrix metalloproteinase 2 proprotein"
     variation       967
                     /gene="MMP2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3194185"
     variation       967
                     /gene="MMP2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1132896"
     variation       1039
                     /gene="MMP2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1053605"
     variation       1669
                     /gene="MMP2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2287074"
     variation       2095
                     /gene="MMP2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3194188"
     variation       2095
                     /gene="MMP2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:14070"
     variation       2532
                     /gene="MMP2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:7201"
     variation       2570
                     /gene="MMP2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1799839"
     variation       2837
                     /gene="MMP2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1799840"
     variation       2946
                     /gene="MMP2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1063976"
     variation       2948
                     /gene="MMP2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1063977"
     variation       2951
                     /gene="MMP2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1063978"
     variation       2961
                     /gene="MMP2"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:15142"
     variation       2975
                     /gene="MMP2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1058373"
     polyA_signal    3047..3052
                     /gene="MMP2"
                     /evidence=experimental
     polyA_site      3069
                     /gene="MMP2"
BASE COUNT      660 a    935 c    839 g    635 t
ORIGIN      
        1 tgtttccgct gcatccagac ttcctcaggc ggtggctgga ggctgcgcat ctggggcttt
       61 aaacatacaa agggattgcc aggacctgcg gcggcggcgg cggcggcggg ggctggggcg
      121 cgggggccgg accatgagcc gctgagccgg gcaaacccca ggccaccgag ccagcggacc
      181 ctcggagcgc agccctgcgc cgcggaccag gctccaacca ggcggcgagg cggccacacg
      241 caccgagcca gcgacccccg ggcgacgcgc ggggccaggg agcgctacga tggaggcgct
      301 aatggcccgg ggcgcgctca cgggtcccct gagggcgctc tgtctcctgg gctgcctgct
      361 gagccacgcc gccgccgcgc cgtcgcccat catcaagttc cccggcgatg tcgcccccaa
      421 aacggacaaa gagttggcag tgcaatacct gaacaccttc tatggctgcc ccaaggagag
      481 ctgcaacctg tttgtgctga aggacacact aaagaagatg cagaagttct ttggactgcc
      541 ccagacaggt gatcttgacc agaataccat cgagaccatg cggaagccac gctgcggcaa
      601 cccagatgtg gccaactaca acttcttccc tcgcaagccc aagtgggaca agaaccagat
      661 cacatacagg atcattggct acacacctga tctggaccca gagacagtgg atgatgcctt
      721 tgctcgtgcc ttccaagtct ggagcgatgt gaccccactg cggttttctc gaatccatga
      781 tggagaggca gacatcatga tcaactttgg ccgctgggag catggcgatg gatacccctt
      841 tgacggtaag gacggactcc tggctcatgc cttcgcccca ggcactggtg ttgggggaga
      901 ctcccatttt gatgacgatg agctatggac cttgggagaa ggccaagtgg tccgtgtgaa
      961 gtatggcaac gccgatgggg agtactgcaa gttccccttc ttgttcaatg gcaaggagta
     1021 caacagctgc actgatactg gccgcagcga tggcttcctc tggtgctcca ccacctacaa
     1081 ctttgagaag gatggcaagt acggcttctg tccccatgaa gccctgttca ccatgggcgg
     1141 caacgctgaa ggacagccct gcaagtttcc attccgcttc cagggcacat cctatgacag
     1201 ctgcaccact gagggccgca cggatggcta ccgctggtgc ggcaccactg aggactacga
     1261 ccgcgacaag aagtatggct tctgccctga gaccgccatg tccactgttg gtgggaactc
     1321 agaaggtgcc ccctgtgtct tccccttcac tttcctgggc aacaaatatg agagctgcac
     1381 cagcgccggc cgcagtgacg gaaagatgtg gtgtgcgacc acagccaact acgatgacga
     1441 ccgcaagtgg ggcttctgcc ctgaccaagg gtacagcctg ttcctcgtgg cagcccacga
     1501 gtttggccac gccatggggc tggagcactc ccaagaccct ggggccctga tggcacccat
     1561 ttacacctac accaagaact tccgtctgtc ccaggatgac atcaagggca ttcaggagct
     1621 ctatggggcc tctcctgaca ttgaccttgg caccggcccc acccccacac tgggccctgt
     1681 cactcctgag atctgcaaac aggacattgt atttgatggc atcgctcaga tccgtggtga
     1741 gatcttcttc ttcaaggacc ggttcatttg gcggactgtg acgccacgtg acaagcccat
     1801 ggggcccctg ctggtggcca cattctggcc tgagctcccg gaaaagattg atgcggtata
     1861 cgaggcccca caggaggaga aggctgtgtt ctttgcaggg aatgaatact ggatctactc
     1921 agccagcacc ctggagcgag ggtaccccaa gccactgacc agcctgggac tgccccctga
     1981 tgtccagcga gtggatgccg cctttaactg gagcaaaaac aagaagacat acatctttgc
     2041 tggagacaaa ttctggagat acaatgaggt gaagaagaaa atggatcctg gctttcccaa
     2101 gctcatcgca gatgcctgga atgccatccc cgataacctg gatgccgtcg tggacctgca
     2161 gggcggcggt cacagctact tcttcaaggg tgcctattac ctgaagctgg agaaccaaag
     2221 tctgaagagc gtgaagtttg gaagcatcaa atccgactgg ctaggctgct gagctggccc
     2281 tggctcccac aggcccttcc tctccactgc cttcgataca ccgggcctgg agaactagag
     2341 aaggacccgg aggggcctgg cagccgtgcc ttcagctcta cagctaatca gcattctcac
     2401 tcctacctgg taatttaaga ttccagagag tggctcctcc cggtgcccaa gaatagatgc
     2461 tgactgtact cctcccaggc gccccttccc cctccaatcc caccaaccct cagagccacc
     2521 cctaaagaga tcctttgata ttttcaacgc agccctgctt tgggctgccc tggtgctgcc
     2581 acacttcagg ctcttctcct ttcacaacct tctgtggctc acagaaccct tggagccaat
     2641 ggagactgtc tcaagagggc actggtggcc cgacagcctg gcacagggca gtgggacagg
     2701 gcatggccag gtggccactc cagacccctg gcttttcact gctggctgcc ttagaacctt
     2761 tcttacatta gcagtttgct ttgtatgcac tttgtttttt tctttgggtc ttgttttttt
     2821 tttccactta gaaattgcat ttcctgacag aaggactcag gttgtctgaa gtcactgcac
     2881 agtgcatctc agcccacata gtgatggttc ccctgttcac tctacttagc atgtccctac
     2941 cgagtctctt ctccactgga tggaggaaaa ccaagccgtg gcttcccgct cagccctccc
     3001 tgcccctccc ttcaaccatt ccccatggga aatgtcaaca agtatgaata aagacaccta
     3061 ctgagtggc
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_003248. Homo sapiens thro...[gi:4507488] Links  


LOCUS       THBS4                   3074 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens thrombospondin 4 (THBS4), mRNA.
ACCESSION   NM_003248
VERSION     NM_003248.1  GI:4507488
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3074)
  AUTHORS   Lawler,J., McHenry,K., Duquette,M. and Derick,L.
  TITLE     Characterization of human thrombospondin-4
  JOURNAL   J. Biol. Chem. 270 (6), 2809-2814 (1995)
  MEDLINE   95155352
   PUBMED   7852353
REFERENCE   2  (bases 1 to 3074)
  AUTHORS   Arber,S. and Caroni,P.
  TITLE     Thrombospondin-4, an extracellular matrix protein expressed in the
            developing and adult nervous system promotes neurite outgrowth
  JOURNAL   J. Cell Biol. 131 (4), 1083-1094 (1995)
  MEDLINE   96074771
   PUBMED   7490284
REFERENCE   3  (bases 1 to 3074)
  AUTHORS   Newton,G., Weremowicz,S., Morton,C.C., Jenkins,N.A., Gilbert,D.J.,
            Copeland,N.G. and Lawler,J.
  TITLE     The thrombospondin-4 gene
  JOURNAL   Mamm. Genome 10 (10), 1010-1016 (1999)
  MEDLINE   99431670
   PUBMED   10501972
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from Z19585.1.
FEATURES             Location/Qualifiers
     source          1..3074
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13"
                     /tissue_type="heart"
                     /clone_lib="human heart"
                     /dev_stage="adult"
     gene            1..3074
                     /gene="THBS4"
                     /db_xref="LocusID:7060"
                     /db_xref="MIM:600715"
     CDS             28..2913
                     /gene="THBS4"
                     /function="unknown"
                     /codon_start=1
                     /product="thrombospondin 4"
                     /protein_id="NP_003239.1"
                     /db_xref="GI:4507489"
                     /db_xref="LocusID:7060"
                     /db_xref="MIM:600715"
                     /translation="MLAPRGAAVLLLHLVLQRWLAAGAQATPQVFDLLPSSSQRLNPG
                     ALLPVLTDPALNDLYVISTFKLQTKSSATIFGLYSSTDNSKYFEFTVMGRLSKAILRY
                     LKNDGKVHLVVFNNLQLADGRRHRILLRLSNLQRGAGSLELYLDCIQVDSVHNLPRAF
                     AGPSQKPETIELRTFQRKPQDFLEELKLVVRGSLFQVASLQDCFLQQSEPLAATGTGD
                     FNRQFLGQMTQLNQLLGEVKDLLRQQVKETSFLRNTIAECQACGPLKFQSPTPSTVVA
                     PAPPAPPTRPPRRCDSNPCFRGVQCTDSRDGFQCGPCPEGYTGNGITCIDVDECKYHP
                     CYPGVHCINLSPGFRCDACPVGFTGPMVQGVGISFAKSNKQVCTDIDECRNGACVPNS
                     ICVNTLGSYRCGPCKPGYTGDQIRGCKVERNCRNPELNPCSVNAQCIEERQGDVTCVC
                     GVGWAGDGYICGKDVDIDSYPDEELPCSARNCKKDNCKYVPNSGQEDADRDGIGDACD
                     EDADGDGILNEQDNCVLIHNVDQRNSDKDIFGDACDNCLSVLNNDQKDTDGDGRGDAC
                     DDDMDGDGIKNILDNCPKFPNRDQRDKDGDGVGDACDSCPDVSNPNQSDVDNDLVGDS
                     CDTNQDSDGDGHQDSTDNCPTVINSAQLDTDKDGIGDECDDDDDNDGIPDLVPPGPDN
                     CRLVPNPAQEDSNSDGVGDICESDFDQDQVIDRIDVCPENAEVTLTDFRAYQTVGLDP
                     EGDAQIDPNWVVLNQGMEIVQTMNSDPGLAVGYTAFNGVDFEGTFHVNTQTDDDYAGF
                     IFGYQDSSSFYVVMWKQTEQTYWQATPFRAVAEPGIQLKAVKSKTGPGEHLRNSLWHT
                     GDTSDQVRLLWKDSRNVGWKDKVSYRWFLQHRPQVGYIRVRFYEGSELVADSGVTIDT
                     TMRGGRLGVFCFSQENIIWSNLKYRCNDTIPEDFQEFQTQNFDRFDN"
     sig_peptide     28..90
                     /gene="THBS4"
     mat_peptide     91..2910
                     /gene="THBS4"
                     /product="thrombospondin 4"
                     /function="unknown"
                     /standard_name="thrombospondin-4"
     misc_feature    97..603
                     /gene="THBS4"
                     /note="Region: pfam02210, TSPN, Thrombospondin N-terminal
                     -like domain"
     misc_feature    97..603
                     /gene="THBS4"
                     /note="Region: smart00210, TSPN, Thrombospondin N-terminal
                     -like domains; Heparin-binding and cell adhesion domain of
                     thrombospondin"
     misc_feature    895..1002
                     /gene="THBS4"
                     /note="Region: smart00179, EGF_CA, Calcium-binding
                     EGF-like domain"
     misc_feature    1003..1107
                     /gene="THBS4"
                     /note="Region: smart00179, EGF_CA, Calcium-binding
                     EGF-like domain"
     misc_feature    1162..1266
                     /gene="THBS4"
                     /note="Region: smart00179, EGF_CA, Calcium-binding
                     EGF-like domain"
     variation       314
                     /gene="THBS4"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2229397"
     repeat_unit     889..1008
                     /gene="THBS4"
                     /rpt_family="thrombospondin type 2"
                     /rpt_type=TANDEM
     repeat_unit     1009..1167
                     /gene="THBS4"
                     /rpt_family="thrombospondin type 2"
                     /rpt_type=TANDEM
     repeat_unit     1168..1290
                     /gene="THBS4"
                     /rpt_family="thrombospondin type 2"
                     /rpt_type=TANDEM
     repeat_unit     1291..1416
                     /gene="THBS4"
                     /rpt_family="thrombospondin type 2"
                     /rpt_type=TANDEM
     repeat_unit     1480..2175
                     /gene="THBS4"
                     /function="calcium binding"
                     /rpt_family="thrombospondin type 3"
                     /rpt_type=TANDEM
     misc_binding    1711..1722
                     /gene="THBS4"
                     /bound_moiety="integrins"
                     /function="cell binding site"
     variation       1963
                     /gene="THBS4"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2229396"
     variation       2135
                     /gene="THBS4"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3189972"
     variation       2135
                     /gene="THBS4"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1130758"
     variation       2236
                     /gene="THBS4"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2229398"
     variation       2237
                     /gene="THBS4"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1049798"
     polyA_site      3031..3036
                     /gene="THBS4"
BASE COUNT      796 a    768 c    842 g    668 t
ORIGIN      
        1 gaattccggg gagcaggaag agccaacatg ctggccccgc gcggagccgc cgtcctcctg
       61 ctgcacctgg tcctgcagcg gtggctagcg gcaggcgccc aggccacccc ccaggtcttt
      121 gaccttctcc catcttccag tcagaggcta aacccaggcg ctctgctgcc agtcctgaca
      181 gaccccgccc tgaatgatct ctatgtgatt tccaccttca agctgcagac taaaagttca
      241 gccaccatct tcggtcttta ctcttcaact gacaacagta aatattttga atttactgtg
      301 atgggacgct taagcaaagc catcctccgt tacctgaaga acgatgggaa ggtgcatttg
      361 gtggttttca acaacctgca gctggcagac ggaaggcggc acaggatcct cctgaggctg
      421 agcaatttgc agcgaggggc cggctcccta gagctctacc tggactgcat ccaggtggat
      481 tccgttcaca atctccccag ggcctttgct ggcccctccc agaaacctga gaccattgaa
      541 ttgaggactt tccagaggaa gccacaggac ttcttggaag agctgaagct ggtggtgaga
      601 ggctcactgt tccaggtggc cagcctgcaa gactgcttcc tgcagcagag tgagccactg
      661 gctgccacag gcacagggga ctttaaccgg cagttcttgg gtcaaatgac acaattaaac
      721 caactcctgg gagaggtgaa ggaccttctg agacagcagg ttaaggaaac atcatttttg
      781 cgaaacacca tagctgaatg ccaggcttgc ggtcctctca agtttcagtc tccgacccca
      841 agcacggtgg tcgccccggc tccccctgca ccgccaacac gcccacctcg tcggtgtgac
      901 tccaacccat gtttccgagg tgtccaatgt accgacagta gagatggctt ccagtgtggg
      961 ccctgccccg agggctacac aggaaacggg atcacctgta ttgatgttga tgagtgcaaa
     1021 taccatccct gctacccggg cgtgcactgc ataaatttgt ctcctggctt cagatgtgac
     1081 gcctgcccag tgggcttcac agggcccatg gtgcagggtg ttgggatcag ttttgccaag
     1141 tcaaacaagc aggtctgcac tgacattgat gagtgtcgaa atggagcgtg cgttcccaac
     1201 tcgatctgcg ttaatacttt gggatcttac cgctgtgggc cttgtaagcc ggggtatact
     1261 ggtgatcaga taaggggatg caaagtggaa agaaactgca gaaacccaga gctgaaccct
     1321 tgcagtgtga atgcccagtg cattgaagag aggcaggggg atgtgacatg tgtgtgtgga
     1381 gtcggttggg ctggagatgg ctatatctgt ggaaaggatg tggacatcga cagttacccc
     1441 gacgaagaac tgccatgctc tgccaggaac tgtaaaaagg acaactgcaa atatgtgcca
     1501 aattctggcc aagaagatgc agacagagat ggcattggcg acgcttgtga cgaggatgct
     1561 gacggagatg ggatcctgaa tgagcaggat aactgtgtcc tgattcataa tgtggaccaa
     1621 aggaacagcg ataaagatat ctttggggat gcctgtgata actgcctgag tgtcttaaat
     1681 aacgaccaga aagacaccga tggggatgga agaggagatg cctgtgatga tgacatggat
     1741 ggagatggaa taaaaaacat tctggacaac tgcccaaaat ttcccaatcg tgaccaacgg
     1801 gacaaggatg gtgatggtgt gggggatgcc tgtgacagtt gtcctgatgt cagcaaccct
     1861 aaccagtctg atgtggataa tgatctggtt ggggactcct gtgacaccaa tcaggacagt
     1921 gatggagatg ggcaccagga cagcacagac aactgcccca ccgtcattaa cagtgcccag
     1981 ctggacaccg ataaggatgg aattggtgac gagtgtgatg atgatgatga caatgatggt
     2041 atcccagacc tggtgccccc tggaccagac aactgccggc tggtccccaa cccagcccag
     2101 gaggatagca acagcgacgg agtgggagac atctgtgagt ctgactttga ccaggaccag
     2161 gtcatcgatc ggatcgacgt ctgcccagag aacgcagagg tcaccctgac cgacttcagg
     2221 gcttaccaga ccgtgggcct ggatcctgaa ggggatgccc agatcgatcc caactgggtg
     2281 gtcctgaacc agggcatgga gattgtacag accatgaaca gtgatcctgg cctggcagtg
     2341 gggtacacag cttttaatgg agttgacttc gaagggacct tccatgtgaa tacccagaca
     2401 gatgatgact atgcaggctt tatctttggc taccaagata gctccagctt ctacgtggtc
     2461 atgtggaagc agacggagca gacatattgg caagccaccc cattccgagc agttgcagaa
     2521 cctggcattc agctcaaggc tgtgaagtct aagacaggtc caggggagca tctccggaac
     2581 tccctgtggc acacggggga caccagtgac caggtcaggc tgctgtggaa ggactccagg
     2641 aatgtgggct ggaaggacaa ggtgtcctac cgctggttcc tacagcacag gccccaggtg
     2701 ggctacatca gggtacgatt ttatgaaggc tctgagttgg tggctgactc tggcgtcacc
     2761 atagacacca caatgcgtgg aggccgactt ggcgttttct gcttctctca agaaaacatc
     2821 atctggtcca acctcaagta tcgctgcaat gacaccatcc ctgaggactt ccaagagttt
     2881 caaacccaga atttcgaccg cttcgataat taaaccaagg aagcaatctg taactgcttt
     2941 tcggaacact aaaaccatat atattttaac ttcaattttc tttagctttt accaacccaa
     3001 atatatcaaa acgttttatg tgaatgtggc aataaaggag aagagatcat ttttaaaaaa
     3061 aaaaaaaaaa aaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&


    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_000088. Homo sapiens coll...[gi:14719826] Links  


LOCUS       COL1A1                  5921 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.
ACCESSION   NM_000088
VERSION     NM_000088.2  GI:14719826
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5921)
  AUTHORS   Chu ML, Myers JC, Bernard MP, Ding JF and Ramirez F.
  TITLE     Cloning and characterization of five overlapping cDNAs specific for
            the human pro alpha 1(I) collagen chain
  JOURNAL   Nucleic Acids Res. 10 (19), 5925-5934 (1982)
  MEDLINE   83064528
   PUBMED   6183642
REFERENCE   2  (bases 1 to 5921)
  AUTHORS   Bernard,M.P., Chu,M.L., Myers,J.C., Ramirez,F., Eikenberry,E.F. and
            Prockop,D.J.
  TITLE     Nucleotide sequences of complementary deoxyribonucleic acids for
            the pro alpha 1 chain of human type I procollagen. Statistical
            evaluation of structures that are conserved during evolution
  JOURNAL   Biochemistry 22 (22), 5213-5223 (1983)
  MEDLINE   84080385
   PUBMED   6689127
REFERENCE   3  (bases 1 to 5921)
  AUTHORS   Chu,M.L., de Wet,W., Bernard,M. and Ramirez,F.
  TITLE     Fine structural analysis of the human pro-alpha 1 (I) collagen
            gene. Promoter structure, AluI repeats, and polymorphic transcripts
  JOURNAL   J. Biol. Chem. 260 (4), 2315-2320 (1985)
  MEDLINE   85130970
   PUBMED   2857713
REFERENCE   4  (bases 1 to 5921)
  AUTHORS   Retief,E., Parker,M.I. and Retief,A.E.
  TITLE     Regional chromosome mapping of human collagen genes alpha 2(I) and
            alpha 1(I) (COLIA2 and COLIA1)
  JOURNAL   Hum. Genet. 69 (4), 304-308 (1985)
  MEDLINE   85181198
   PUBMED   3857213
REFERENCE   5  (bases 1 to 5921)
  AUTHORS   Makela JK, Raassina M, Virta A and Vuorio E.
  TITLE     Human pro alpha 1(I) collagen: cDNA sequence for the C-propeptide
            domain
  JOURNAL   Nucleic Acids Res. 16 (1), 349 (1988)
  MEDLINE   88124208
   PUBMED   3340531
REFERENCE   6  (bases 1 to 5921)
  AUTHORS   D'Alessio,M., Bernard,M., Pretorius,P.J., de Wet,W., Ramirez,F. and
            Pretorious,P.J.
  TITLE     Complete nucleotide sequence of the region encompassing the first
            twenty-five exons of the human pro alpha 1(I) collagen gene
            (COL1A1)
  JOURNAL   Gene 67 (1), 105-115 (1988)
  MEDLINE   88329734
   PUBMED   2843432
REFERENCE   7  (bases 1 to 5921)
  AUTHORS   Tromp,G., Kuivaniemi,H., Stacey,A., Shikata,H., Baldwin,C.T.,
            Jaenisch,R. and Prockop,D.J.
  TITLE     Structure of a full-length cDNA clone for the prepro alpha 1(I)
            chain of human type I procollagen
  JOURNAL   Biochem. J. 253 (3), 919-922 (1988)
  MEDLINE   89025644
   PUBMED   3178743
REFERENCE   8  (bases 1 to 5921)
  AUTHORS   Willing,M.C., Cohn,D.H. and Byers,P.H.
  TITLE     Frameshift mutation near the 3' end of the COL1A1 gene of type I
            collagen predicts an elongated Pro alpha 1(I) chain and results in
            osteogenesis imperfecta type I
  JOURNAL   J. Clin. Invest. 85 (1), 282-290 (1990)
  MEDLINE   90110490
   PUBMED   2295701
REFERENCE   9  (bases 1 to 5921)
  AUTHORS   Maatta,A., Bornstein,P. and Penttinen,R.P.
  TITLE     Highly conserved sequences in the 3'-untranslated region of the
            COL1A1 gene bind cell-specific nuclear proteins
  JOURNAL   FEBS Lett. 279 (1), 9-13 (1991)
  MEDLINE   91138770
   PUBMED   1995349
REFERENCE   10 (bases 1 to 5921)
  AUTHORS   Tsuneyoshi,T., Westerhausen,A., Constantinou,C.D. and Prockop,D.J.
  TITLE     Substitutions for glycine alpha 1-637 and glycine alpha 2-694 of
            type I procollagen in lethal osteogenesis imperfecta. The
            conformational strain on the triple helix introduced by a glycine
            substitution can be transmitted along the helix
  JOURNAL   J. Biol. Chem. 266 (24), 15608-15613 (1991)
  MEDLINE   91340689
   PUBMED   1874719
REFERENCE   11 (bases 1 to 5921)
  AUTHORS   Westerhausen,A., Constantinou,C.D., Pack,M., Peng,M.Z., Hanning,C.,
            Olsen,A.S. and Prockop,D.J.
  TITLE     Completion of the last half of the structure of the human gene for
            the Pro alpha 1 (I) chain of type I procollagen (COL1A1)
  JOURNAL   Matrix 11 (6), 375-379 (1991)
  MEDLINE   92157916
   PUBMED   1787829
REFERENCE   12 (bases 1 to 5921)
  AUTHORS   Nusgens,B.V., Verellen-Dumoulin,C., Hermanns-Le,T., De Paepe,A.,
            Nuytinck,L., Pierard,G.E. and Lapiere,C.M.
  TITLE     Evidence for a relationship between Ehlers-Danlos type VII C in
            humans and bovine dermatosparaxis
  JOURNAL   Nat. Genet. 1 (3), 214-217 (1992)
  MEDLINE   93265106
   PUBMED   1303238
REFERENCE   13 (bases 1 to 5921)
  AUTHORS   Grant,S.F., Reid,D.M., Blake,G., Herd,R., Fogelman,I. and
            Ralston,S.H.
  TITLE     Reduced bone density and osteoporosis associated with a polymorphic
            Sp1 binding site in the collagen type I alpha 1 gene
  JOURNAL   Nat. Genet. 14 (2), 203-205 (1996)
  MEDLINE   96438861
   PUBMED   8841196
REFERENCE   14 (bases 1 to 5921)
  AUTHORS   Dalgleish,R.
  TITLE     The human type I collagen mutation database
  JOURNAL   Nucleic Acids Res. 25 (1), 181-187 (1997)
  MEDLINE   97169389
   PUBMED   9016532
REFERENCE   15 (bases 1 to 5921)
  AUTHORS   Chambers,R.C., Dabbagh,K., McAnulty,R.J., Gray,A.J.,
            Blanc-Brude,O.P. and Laurent,G.J.
  TITLE     Thrombin stimulates fibroblast procollagen production via
            proteolytic activation of protease-activated receptor 1
  JOURNAL   Biochem. J. 333 (Pt 1), 121-127 (1998)
  MEDLINE   98306062
   PUBMED   9639571
REFERENCE   16 (bases 1 to 5921)
  AUTHORS   Pace,J.M., Kuslich,C.D., Willing,M.C. and Byers,P.H.
  TITLE     Disruption of one intra-chain disulphide bond in the
            carboxyl-terminal propeptide of the proalpha1(I) chain of type I
            procollagen permits slow assembly and secretion of overmodified,
            but stable procollagen trimers and results in mild osteogenesis
            imperfecta
  JOURNAL   J. Med. Genet. 38 (7), 443-449 (2001)
  MEDLINE   21326303
   PUBMED   11432962
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z74615.1.
            On Jul 16, 2001 this sequence version replaced gi:4502944.
            Summary: This gene encodes the major component of type I collagen,
            the fibrillar collagen found in most connective tissues, and the
            only component of the collagen found in cartilage. Mutations in
            this gene are associated with osteogenesis imperfecta,
            Ehlers-Danlos syndrome, and idiopathic osteoporosis. Reciprocal
            translocations between chromosomes 17 and 22, where this gene and
            the gene for platelet-derived growth factor beta are located, are
            associated with a particular type of skin tumor called
            dermatofibrosarcoma protuberans, resulting from unregulated
            expression of the growth factor. Two transcripts, resulting from
            the use of alternate polyadenylation signals, have been identified
            for this gene.
FEATURES             Location/Qualifiers
     source          1..5921
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.3-q22.1"
     gene            1..5921
                     /gene="COL1A1"
                     /note="OI4"
                     /db_xref="LocusID:1277"
                     /db_xref="MIM:120150"
     CDS             120..4514
                     /gene="COL1A1"
                     /note="Collagen I, alpha-1 polypeptide; osteogenesis
                     imperfecta type IV; collagen of skin, tendon and bone,
                     alpha-1 chain"
                     /codon_start=1
                     /product="alpha 1 type I collagen preproprotein"
                     /protein_id="NP_000079.1"
                     /db_xref="GI:4502945"
                     /db_xref="LocusID:1277"
                     /db_xref="MIM:120150"
                     /translation="MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNG
                     LRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGECCPVCPDGSESP
                     TDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFA
                     PQLSYGYDEKSTGGISVPGPMGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMG
                     PRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGFSGLDGA
                     KGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPP
                     GPTGPAGPPGFPGAVGAKGEAGPQGPRGSEGPQGVRGEPGPPGPAGAAGPAGNPGADG
                     QPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
                     PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPA
                     GERGSPGPAGPKGSPGEAGRPGEAGLPGAKGLTGSPGSPGPDGKTGPPGPAGQDGRPG
                     PPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGP
                     AGPAGERGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGVPGDLGAPGPSGARGERGFP
                     GERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGSQGAPGLQGMPGERGAAGLPG
                     PKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGESGPSGPAGPTGARGA
                     PGDRGEPGPPGPAGFAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAGPPGPIGNV
                     GAPGAKGARGSAGPPGATGFPGAAGRVGPPGPSGNAGPPGPPGPAGKEGGKGPRGETG
                     PAGRPGEVGPPGPPGPAGEKGSPGADGPAGAPGTPGPQGIAGQRGVVGLPGQRGERGF
                     PGLPGPSGEPGKQGPSGASGERGPPGPMGPPGLAGPPGESGREGAPAAEGSPGRDGSP
                     GAKGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGPAGPAGPVGPVGARGPAG
                     PQGPRGDKGETGEQGDRGIKGHRGFSGLQGPPGPPGSPGEQGPSGASGPAGPRGPPGS
                     AGAPGKDGLNGLPGPIGPPGPRGRTGDAGPVGPPGPPGPPGPPGPPSAGFDFSFLPQP
                     PQEKAHDGGRYYRADDANVVRDRDLEVDTTLKSLSQQIENIRSPEGSRKNPARTCRDL
                     KMCHSDWKSGEYWIDPNQGCNLDAIKVFCNMETGETCVYPTQPSVAQKNWYISKNPKD
                     KRHVWFGESMTDGFQFEYGGQGSDPADVAIQLTFLRLMSTEASQNITYHCKNSVAYMD
                     QQTGNLKKALLLKGSNEIEIRAEGNSRFTYSVTVDGCTSHTGAWGKTVIEYKTTKSSR
                     LPIIDVAPLDVGAPDQEFGFDVGPVCFL"
     sig_peptide     120..185
                     /gene="COL1A1"
     misc_feature    186..4511
                     /gene="COL1A1"
                     /note="Region: alpha one type I collagen proprotein"
     misc_feature    237..404
                     /gene="COL1A1"
                     /note="Region: pfam00093, vwc, von Willebrand factor type
                     C domain. The high cutoff was used to prevent overlap with
                     pfam00094"
     misc_feature    237..404
                     /gene="COL1A1"
                     /note="Region: smart00214, VWC, von Willebrand factor
                     (vWF) type C domain"
     mat_peptide     654..3773
                     /gene="COL1A1"
                     /product="alpha 1 type I collagen"
     misc_feature    3807..4511
                     /gene="COL1A1"
                     /note="Region: smart00038, COLFI, Fibrillar collagens
                     C-terminal domain; Found at C-termini of fibrillar
                     collagens: Ephydatia muelleri procollagen EMF1alpha,
                     vertebrate collagens alpha(1)III, alpha(1)II, alpha(2)V
                     etc"
     misc_feature    3852..4508
                     /gene="COL1A1"
                     /note="Region: pfam01410, COLFI, Fibrillar collagen
                     C-terminal domain. Found at C-termini of fibrillar
                     collagens: Ephydatia muelleri procollagen EMF1 alpha,
                     vertebrate collagens alpha(1)III, alpha(1)II, alpha(2)V
                     etc"
     variation       296
                     /gene="COL1A1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1057297"
     variation       1810
                     /gene="COL1A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1800211"
     variation       1890
                     /gene="COL1A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1135345"
     variation       1890
                     /gene="COL1A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3197941"
     variation       2204
                     /gene="COL1A1"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1800213"
     variation       3175
                     /gene="COL1A1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3197946"
     variation       3175
                     /gene="COL1A1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1135348"
     variation       3871
                     /gene="COL1A1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3205325"
     variation       4254
                     /gene="COL1A1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3205509"
     variation       4394
                     /gene="COL1A1"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:10407"
     variation       4410
                     /gene="COL1A1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1059454"
     variation       4415
                     /gene="COL1A1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1059475"
     variation       4528
                     /gene="COL1A1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1064882"
     variation       4572
                     /gene="COL1A1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:10144"
     variation       4602
                     /gene="COL1A1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1061237"
     polyA_signal    4763..4775
                     /gene="COL1A1"
     polyA_site      4798
                     /gene="COL1A1"
     variation       complement(5192..5193)
                     /allele="-"
                     /allele="CTTG"
                     /db_xref="dbSNP:3840870"
     variation       5529
                     /gene="COL1A1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1061970"
     variation       5670
                     /gene="COL1A1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1062135"
     polyA_signal    5891..5896
                     /gene="COL1A1"
     polyA_site      5921
                     /gene="COL1A1"
BASE COUNT     1068 a   1879 c   1763 g   1211 t
ORIGIN      
        1 agcagacggg agtttctcct cggggtcgga gcaggaggca cgcggagtgt gaggccacgc
       61 atgagcggac gctaaccccc tccccagcca caaagagtct acatgtctag ggtctagaca
      121 tgttcagctt tgtggacctc cggctcctgc tcctcttagc ggccaccgcc ctcctgacgc
      181 acggccaaga ggaaggccaa gtcgagggcc aagacgaaga catcccacca atcacctgcg
      241 tacagaacgg cctcaggtac catgaccgag acgtgtggaa acccgagccc tgccggatct
      301 gcgtctgcga caacggcaag gtgttgtgcg atgacgtgat ctgtgacgag accaagaact
      361 gccccggcgc cgaagtcccc gagggcgagt gctgtcccgt ctgccccgac ggctcagagt
      421 cacccaccga ccaagaaacc accggcgtcg agggacccaa gggagacact ggcccccgag
      481 gcccaagggg acccgcaggc ccccctggcc gagatggcat ccctggacag cctggacttc
      541 ccggaccccc cggacccccc ggacctcccg gaccccctgg cctcggagga aactttgctc
      601 cccagctgtc ttatggctat gatgagaaat caaccggagg aatttccgtg cctggcccca
      661 tgggtccctc tggtcctcgt ggtctccctg gcccccctgg tgcacctggt ccccaaggct
      721 tccaaggtcc ccctggtgag cctggcgagc ctggagcttc aggtcccatg ggtccccgag
      781 gtcccccagg tccccctgga aagaatggag atgatgggga agctggaaaa cctggtcgtc
      841 ctggtgagcg tgggcctcct gggcctcagg gtgctcgagg attgcccgga acagctggcc
      901 tccctggaat gaagggacac agaggtttca gtggtttgga tggtgccaag ggagatgctg
      961 gtcctgctgg tcctaagggt gagcctggca gccctggtga aaatggagct cctggtcaga
     1021 tgggcccccg tggcctgcct ggtgagagag gtcgccctgg agcccctggc cctgctggtg
     1081 ctcgtggaaa tgatggtgct actggtgctg ccgggccccc tggtcccacc ggccccgctg
     1141 gtcctcctgg cttccctggt gctgttggtg ctaagggtga agctggtccc caagggcccc
     1201 gaggctctga aggtccccag ggtgtgcgtg gtgagcctgg cccccctggc cctgctggtg
     1261 ctgctggccc tgctggaaac cctggtgctg atggacagcc tggtgctaaa ggtgccaatg
     1321 gtgctcctgg tattgctggt gctcctggct tccctggtgc ccgaggcccc tctggacccc
     1381 agggccccgg cggccctcct ggtcccaagg gtaacagcgg tgaacctggt gctcctggca
     1441 gcaaaggaga cactggtgct aagggagagc ctggccctgt tggtgttcaa ggaccccctg
     1501 gccctgctgg agaggaagga aagcgaggag ctcgaggtga acccggaccc actggcctgc
     1561 ccggaccccc tggcgagcgt ggtggacctg gtagccgtgg tttccctggc gcagatggtg
     1621 ttgctggtcc caagggtccc gctggtgaac gtggttctcc tggccccgct ggccccaaag
     1681 gatctcctgg tgaagctggt cgtcccggtg aagctggtct gcctggtgcc aagggtctga
     1741 ctggaagccc tggcagccct ggtcctgatg gcaaaactgg cccccctggt cccgccggtc
     1801 aagatggtcg ccccggaccc ccaggcccac ctggtgcccg tggtcaggct ggtgtgatgg
     1861 gattccctgg acctaaaggt gctgctggag agcccggcaa ggctggagag cgaggtgttc
     1921 ccggaccccc tggcgctgtc ggtcctgctg gcaaagatgg agaggctgga gctcagggac
     1981 cccctggccc tgctggtccc gctggcgaga gaggtgaaca aggccctgct ggctcccccg
     2041 gattccaggg tctccctggt cctgctggtc ctccaggtga agcaggcaaa cctggtgaac
     2101 agggtgttcc tggagacctt ggcgcccctg gcccctctgg agcaagaggc gagagaggtt
     2161 tccctggcga gcgtggtgtg caaggtcccc ctggtcctgc tggaccccga ggggccaacg
     2221 gtgctcccgg caacgatggt gctaagggtg atgctggtgc ccctggagct cccggtagcc
     2281 agggcgcccc tggccttcag ggaatgcctg gtgaacgtgg tgcagctggt cttccagggc
     2341 ctaagggtga cagaggtgat gctggtccca aaggtgctga tggctctcct ggcaaagatg
     2401 gcgtccgtgg tctgaccggc cccattggtc ctcctggccc tgctggtgcc cctggtgaca
     2461 agggtgaaag tggtcccagc ggccctgctg gtcccactgg agctcgtggt gcccccggag
     2521 accgtggtga gcctggtccc cccggccctg ctggctttgc tggcccccct ggtgctgacg
     2581 gccaacctgg tgctaaaggc gaacctggtg atgctggtgc caaaggcgat gctggtcccc
     2641 ctgggcctgc cggacccgct ggaccccctg gccccattgg taatgttggt gctcctggag
     2701 ccaaaggtgc tcgcggcagc gctggtcccc ctggtgctac tggtttccct ggtgctgctg
     2761 gccgagtcgg tcctcctggc ccctctggaa atgctggacc ccctggccct cctggtcctg
     2821 ctggcaaaga aggcggcaaa ggtccccgtg gtgagactgg ccctgctgga cgtcctggtg
     2881 aagttggtcc ccctggtccc cctggccctg ctggcgagaa aggatcccct ggtgctgatg
     2941 gtcctgctgg tgctcctggt actcccgggc ctcaaggtat tgctggacag cgtggtgtgg
     3001 tcggcctgcc tggtcagaga ggagagagag gcttccctgg tcttcctggc ccctctggtg
     3061 aacctggcaa acaaggtccc tctggagcaa gtggtgaacg tggtcccccc ggtcccatgg
     3121 gcccccctgg attggctgga ccccctggtg aatctggacg tgagggggct cctgctgccg
     3181 aaggttcccc tggacgagac ggttctcctg gcgccaaggg tgaccgtggt gagaccggcc
     3241 ccgctggacc ccctggtgct cctggtgctc ctggtgcccc tggccccgtt ggccctgctg
     3301 gcaagagtgg tgatcgtggt gagactggtc ctgctggtcc cgccggtccc gtcggccccg
     3361 tcggcgcccg tggccccgcc ggaccccaag gcccccgtgg tgacaagggt gagacaggcg
     3421 aacagggcga cagaggcata aagggtcacc gtggcttctc tggcctccag ggtccccctg
     3481 gccctcctgg ctctcctggt gaacaaggtc cctctggagc ctctggtcct gctggtcccc
     3541 gaggtccccc tggctctgct ggtgctcctg gcaaagatgg actcaacggt ctccctggcc
     3601 ccattgggcc ccctggtcct cgcggtcgca ctggtgatgc tggtcctgtt ggtccccccg
     3661 gccctcctgg acctcctggt ccccctggtc ctcccagcgc tggtttcgac ttcagcttcc
     3721 tgccccagcc acctcaagag aaggctcacg atggtggccg ctactaccgg gctgatgatg
     3781 ccaatgtggt tcgtgaccgt gacctcgagg tggacaccac cctcaagagc ctgagccagc
     3841 agatcgagaa catccggagc ccagagggaa gccgcaagaa ccccgcccgc acctgccgtg
     3901 acctcaagat gtgccactct gactggaaga gtggagagta ctggattgac cccaaccaag
     3961 gctgcaacct ggatgccatc aaagtcttct gcaacatgga gactggtgag acctgcgtgt
     4021 accccactca gcccagtgtg gcccagaaga actggtacat cagcaagaac cccaaggaca
     4081 agaggcatgt ctggttcggc gagagcatga ccgatggatt ccagttcgag tatggcggcc
     4141 agggctccga ccctgccgat gtggccatcc agctgacctt cctgcgcctg atgtccaccg
     4201 aggcctccca gaacatcacc taccactgca agaacagcgt ggcctacatg gaccagcaga
     4261 ctggcaacct caagaaggcc ctgctcctca agggctccaa cgagatcgag atccgcgccg
     4321 agggcaacag ccgcttcacc tacagcgtca ctgtcgatgg ctgcacgagt cacaccggag
     4381 cctggggcaa gacagtgatt gaatacaaaa ccaccaagtc ctcccgcctg cccatcatcg
     4441 atgtggcccc cttggacgtt ggtgccccag accaggaatt cggcttcgac gttggccctg
     4501 tctgcttcct gtaaactccc tccatcccaa cctggctccc tcccacccaa ccaactttcc
     4561 ccccaacccg gaaacagaca agcaacccaa actgaacccc cccaaaagcc aaaaaatggg
     4621 agacaatttc acatggactt tggaaaatat ttttttcctt tgcattcatc tctcaaactt
     4681 agtttttatc tttgaccaac cgaacatgac caaaaaccaa aagtgcattc aaccttacca
     4741 aaaaaaaaaa aaaaaaaaaa agaataaata aataagtttt taaaaaagga agcttggtcc
     4801 acttgcttga agacccatgc gggggtaagt ccctttctgc ccgttgggtt atgaaacccc
     4861 aatgctgccc tttctgctcc tttctccaca ccccccttgg cctcccctcc actccttccc
     4921 aaatctgtct ccccagaaga cacaggaaac aatgtattgt ctgcccagca atcaaaggca
     4981 atgctcaaac acccaagtgg cccccaccct cagcccgctc ctgcccgccc agcaccccca
     5041 ggccctgggg acctggggtt ctcagactgc caaagaagcc ttgccatctg gcgctcccat
     5101 ggctcttgca acatctcccc ttcgtttttg agggggtcat gccgggggag ccaccagccc
     5161 ctcactgggt tcggaggaga gtcaggaagg gccacgacaa agcagaaaca tcggatttgg
     5221 ggaacgcgtg tcatcccttg tgccgcaggc tgggcgggag agactgttct gttctgttcc
     5281 ttgtgtaact gtgttgctga aagactacct cgttcttgtc ttgatgtgtc accggggcaa
     5341 ctgcctgggg gcggggatgg gggcagggtg gaagcggctc cccattttta taccaaaggt
     5401 gctacatcta tgtgatgggt ggggtgggga gggaatcact ggtgctatag aaattgagat
     5461 gcccccccag gccagcaaat gttccttttt gttcaaagtc tatttttatt ccttgatatt
     5521 ttttctttct tttttttttt ttttgtggat ggggacttgt gaatttttct aaaggtgcta
     5581 tttaacatgg gaggagagcg tgtgcgctcc agcccagccc gctgctcact ttccaccctc
     5641 tctccacctg cctctggctt ctcaggcctc tgctctccga cctctctcct ctgaaaccct
     5701 cctccacagc tgcagcccat cctcccggct ccctcctagt ctgtcctgcg tcctctgtcc
     5761 ccgggtttca gagacaactt cccaaagcac aaagcagttt ttccctaggg gtgggaggaa
     5821 gcaaaagact ctgtacctat tttgtatgtg tataataatt tgagatgttt ttaattattt
     5881 tgattgctgg aataaagcat gtggaaatga cccaaacata a
//



Revised: July 5, 2002.
 
 


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1: NM_002345. Homo sapiens lumi...[gi:21359858] Links  


LOCUS       LUM                     1804 bp    mRNA    linear   PRI 09-JUN-2002
DEFINITION  Homo sapiens lumican (LUM), mRNA.
ACCESSION   NM_002345
VERSION     NM_002345.2  GI:21359858
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1804)
  AUTHORS   Strausberg,R.
  TITLE     Homo sapiens lumican (LUM), mRNA
  JOURNAL   Unpublished (2001)
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC007038.1.
            On Jun 9, 2002 this sequence version replaced gi:4505046.
FEATURES             Location/Qualifiers
     source          1..1804
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.3-q22"
                     /clone="MGC:12410 IMAGE:3950745"
                     /tissue_type="Prostate"
                     /clone_lib="NIH_MGC_83"
                     /lab_host="DH10B"
                     /note="Vector: pDNR-LIB"
     gene            1..1804
                     /gene="LUM"
                     /note="LDC"
                     /db_xref="LocusID:4060"
                     /db_xref="MIM:600616"
     CDS             142..1158
                     /gene="LUM"
                     /codon_start=1
                     /product="lumican"
                     /protein_id="NP_002336.1"
                     /db_xref="GI:4505047"
                     /db_xref="LocusID:4060"
                     /db_xref="MIM:600616"
                     /translation="MSLSAFTLFLALIGGTSGQYYDYDFPLSIYGQSSPNCAPECNCP
                     ESYPSAMYCDELKLKSVPMVPPGIKYLYLRNNQIDHIDEKAFENVTDLQWLILDHNLL
                     ENSKIKGRVFSKLKQLKKLHINHNNLTESVGPLPKSLEDLQLTHNKITKLGSFEGLVN
                     LTFIHLQHNRLKEDAVSAAFKGLKSLEYLDLSFNQIARLPSGLPVSLLTLYLDNNKIS
                     NIPDEYFKRFNALQYLRLSHNELADSGIPGNSFNVSSLVELDLSYNKLKNIPTVNENL
                     ENYYLEVNQLEKFDIKSFCKILGPLSYSKIKHLRLDGNRISETSLPPDMYECLRVANE
                     VTLN"
     misc_feature    250..354
                     /gene="LUM"
                     /note="LRRNT; Region: Leucine rich repeat N-terminal
                     domain"
                     /db_xref="CDD:smart00013"
     misc_feature    250..339
                     /gene="LUM"
                     /note="LRRNT; Region: Leucine rich repeat N-terminal
                     domain"
                     /db_xref="CDD:pfam01462"
     variation       1078
                     /gene="LUM"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1802743"
     variation       1092
                     /gene="LUM"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1802763"
     variation       1266
                     /gene="LUM"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1802764"
     variation       1316
                     /gene="LUM"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1802765"
     variation       1475
                     /gene="LUM"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:14956"
     variation       1576
                     /gene="LUM"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:11855"
BASE COUNT      583 a    348 c    310 g    563 t
ORIGIN      
        1 gtatcactca gaatctggca gccagttccg tcctgacaga gttcacagca tatattggtg
       61 gattcttgtc catagtgcat ctgctttaag aattaacgaa agcagtgtca agacagtaag
      121 gattcaaacc atttgccaaa aatgagtcta agtgcattta ctctcttcct ggcattgatt
      181 ggtggtacca gtggccagta ctatgattat gattttcccc tatcaattta tgggcaatca
      241 tcaccaaact gtgcaccaga atgtaactgc cctgaaagct acccaagtgc catgtactgt
      301 gatgagctga aattgaaaag tgtaccaatg gtgcctcctg gaatcaagta tctttacctt
      361 aggaataacc agattgacca tattgatgaa aaggcctttg agaatgtaac tgatctgcag
      421 tggctcattc tagatcacaa ccttctagaa aactccaaga taaaagggag agttttctct
      481 aaattgaaac aactgaagaa gctgcatata aaccacaaca acctgacaga gtctgtgggc
      541 ccacttccca aatctctgga ggatctgcag cttactcata acaagatcac aaagctgggc
      601 tcttttgaag gattggtaaa cctgaccttc atccatctcc agcacaatcg gctgaaagag
      661 gatgctgttt cagctgcttt taaaggtctt aaatcactcg aataccttga cttgagcttc
      721 aatcagatag ccagactgcc ttctggtctc cctgtctctc ttctaactct ctacttagac
      781 aacaataaga tcagcaacat ccctgatgag tatttcaagc gttttaatgc attgcagtat
      841 ctgcgtttat ctcacaacga actggctgat agtggaatac ctggaaattc tttcaatgtg
      901 tcatccctgg ttgagctgga tctgtcctat aacaagctta aaaacatacc aactgtcaat
      961 gaaaaccttg aaaactatta cctggaggtc aatcaacttg agaagtttga cataaagagc
     1021 ttctgcaaga tcctggggcc attatcctac tccaagatca agcatttgcg tttggatggc
     1081 aatcgcatct cagaaaccag tcttccaccg gatatgtatg aatgtctacg tgttgctaac
     1141 gaagtcactc ttaattaata tctgtatcct ggaacaatat tttatggtta tgtttttctg
     1201 tgtgtcagtt ttcatagtat ccatatttta ttactgttta ttacttccat gaattttaaa
     1261 atctgaggga aatgttttgt aaacatttat tttttttaaa gaaaagatga aaggcaggcc
     1321 tatttcatca caagaacaca cacatataca cgaatagaca tcaaactcaa tgctttattt
     1381 gtaaatttag tgttttttta tttctactgt caaatgatgt gcaaaacctt ttactggttg
     1441 catggaaatc agccaagttt tataatcctt aaatcttaat gttcctcaaa gcttggatta
     1501 aatacatatg gatgttactc tcttgcacca aattatcttg atacattcaa atttgtctgg
     1561 ttaaaaaata ggtggtagat attgaggcca agaatattgc aaaatacatg aagcttcatg
     1621 cacttaaaga agtattttta gaataagaat ttgcatactt acctagtgaa acttttctag
     1681 aattattttt cactctaagt catgtatgtt tctctttgat tatttgcatg ttatgtttaa
     1741 taagctacta gcaaaataaa acatagcaaa tgaaaaaaaa aaaaaaaaaa aaaaaaaaaa
     1801 aaaa
//



Revised: July 5, 2002.
 
 


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1: NM_000090. Homo sapiens coll...[gi:15149480] Links  


LOCUS       COL3A1                  5489 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens collagen, type III, alpha 1 (Ehlers-Danlos syndrome
            type IV, autosomal dominant) (COL3A1), mRNA.
ACCESSION   NM_000090
VERSION     NM_000090.2  GI:15149480
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5489)
  AUTHORS   Loidl,H.R., Brinker,J.M., May,M., Pihlajaniemi,T., Morrow,S.,
            Rosenbloom,J. and Myers,J.C.
  TITLE     Molecular cloning and carboxyl-propeptide analysis of human type
            III procollagen
  JOURNAL   Nucleic Acids Res. 12 (24), 9383-9394 (1984)
  MEDLINE   85087944
   PUBMED   6096827
REFERENCE   2  (bases 1 to 5489)
  AUTHORS   Emanuel,B.S., Cannizzaro,L.A., Seyer,J.M. and Myers,J.C.
  TITLE     Human alpha 1(III) and alpha 2(V) procollagen genes are located on
            the long arm of chromosome 2
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 82 (10), 3385-3389 (1985)
  MEDLINE   85216505
   PUBMED   3858826
REFERENCE   3  (bases 1 to 5489)
  AUTHORS   Miskulin,M., Dalgleish,R., Kluve-Beckerman,B., Rennard,S.I.,
            Tolstoshev,P., Brantly,M. and Crystal,R.G.
  TITLE     Human type III collagen gene expression is coordinately modulated
            with the type I collagen genes during fibroblast growth
  JOURNAL   Biochemistry 25 (6), 1408-1413 (1986)
  MEDLINE   86187804
   PUBMED   3754462
REFERENCE   4  (bases 1 to 5489)
  AUTHORS   Mankoo,B.S. and Dalgleish,R.
  TITLE     Human pro alpha 1(III) collagen: cDNA sequence for the 3' end
  JOURNAL   Nucleic Acids Res. 16 (5), 2337 (1988)
  MEDLINE   88189827
   PUBMED   3357782
REFERENCE   5  (bases 1 to 5489)
  AUTHORS   Toman,P.D., Ricca,G.A. and de Crombrugghe,B.
  TITLE     Nucleotide sequence of a cDNA coding for the amino-terminal region
            of human prepro alpha 1(III) collagen
  JOURNAL   Nucleic Acids Res. 16 (14B), 7201 (1988)
  MEDLINE   88303360
   PUBMED   3405773
REFERENCE   6  (bases 1 to 5489)
  AUTHORS   Molyneux,K. and Dalgleish,R.
  TITLE     Human type III collagen 'variant' is a cDNA cloning artefact
  JOURNAL   Nucleic Acids Res. 16 (24), 11833 (1988)
  MEDLINE   89098346
   PUBMED   3211760
REFERENCE   7  (bases 1 to 5489)
  AUTHORS   Ala-Kokko,L., Kontusaari,S., Baldwin,C.T., Kuivaniemi,H. and
            Prockop,D.J.
  TITLE     Structure of cDNA clones coding for the entire prepro alpha 1 (III)
            chain of human type III procollagen. Differences in protein
            structure from type I procollagen and conservation of codon
            preferences
  JOURNAL   Biochem. J. 260 (2), 509-516 (1989)
  MEDLINE   89350838
   PUBMED   2764886
REFERENCE   8  (bases 1 to 5489)
  AUTHORS   Janeczko,R.A. and Ramirez,F.
  TITLE     Nucleotide and amino acid sequences of the entire human alpha 1
            (III) collagen
  JOURNAL   Nucleic Acids Res. 17 (16), 6742 (1989)
  MEDLINE   89386015
   PUBMED   2780304
REFERENCE   9  (bases 1 to 5489)
  AUTHORS   Cutting,G.R., McGinniss,M.J., Kasch,L.M., Tsipouras,P. and
            Antonarakis,S.E.
  TITLE     Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a
            35-kb region on human chromosome 2
  JOURNAL   Genomics 8 (2), 407-410 (1990)
  MEDLINE   91065664
   PUBMED   1979060
REFERENCE   10 (bases 1 to 5489)
  AUTHORS   Cole,W.G., Chiodo,A.A., Lamande,S.R., Janeczko,R., Ramirez,F.,
            Dahl,H.H., Chan,D. and Bateman,J.F.
  TITLE     A base substitution at a splice site in the COL3A1 gene causes exon
            skipping and generates abnormal type III procollagen in a patient
            with Ehlers-Danlos syndrome type IV
  JOURNAL   J. Biol. Chem. 265 (28), 17070-17077 (1990)
  MEDLINE   91009133
   PUBMED   2145268
REFERENCE   11 (bases 1 to 5489)
  AUTHORS   Chiodo,A.A., Sillence,D.O., Cole,W.G. and Bateman,J.F.
  TITLE     Abnormal type III collagen produced by an exon-17-skipping mutation
            of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not
            incorporated into the extracellular matrix
  JOURNAL   Biochem. J. 311 (Pt 3), 939-943 (1995)
  MEDLINE   96067614
   PUBMED   7487954
REFERENCE   12 (bases 1 to 5489)
  AUTHORS   Limongi,M.Z., Pelliccia,F. and Rocchi,A.
  TITLE     Assignment of the human nebulin gene (NEB) to chromosome band
            2q24.2 and the alpha 1 (III) collagen gene (COL3A1) to chromosome
            band 2q32.2 by in situ hybridization; the FRA2G common fragile site
            lies between the two genes in the 2q31 band
  JOURNAL   Cytogenet. Cell Genet. 77 (3-4), 259-260 (1997)
  MEDLINE   97430831
   PUBMED   9284930
REFERENCE   13 (bases 1 to 5489)
  AUTHORS   Schwarze,U., Schievink,W.I., Petty,E., Jaff,M.R.,
            Babovic-Vuksanovic,D., Cherry,K.J., Pepin,M. and Byers,P.H.
  TITLE     Haploinsufficiency for one COL3A1 allele of type III procollagen
            results in a phenotype similar to the vascular form of
            Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV
  JOURNAL   Am. J. Hum. Genet. 69 (5), 989-1001 (2001)
  MEDLINE   21473749
   PUBMED   11577371
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X14420.1, AI755052.1 and
            M26939.1.
            On Aug 13, 2001 this sequence version replaced gi:4502950.
            Summary: This gene encodes a fibrillar collagen that is found in
            extensible connective tissues such as skin, lung, and the vascular
            system, frequently in association with type I collagen. Mutations
            in this gene are associated with Ehlers-Danlos syndrome type IV,
            and with aortic and arterial aneurysms. Although alternate
            transcripts have been detected for this gene, they are the result
            of mutations; these mutations alter splicing, often leading to the
            exclusion of multiple exons.
FEATURES             Location/Qualifiers
     source          1..5489
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31"
     gene            1..5489
                     /gene="COL3A1"
                     /db_xref="LocusID:1281"
                     /db_xref="MIM:120180"
     CDS             118..4518
                     /gene="COL3A1"
                     /note="collagen, fetal"
                     /codon_start=1
                     /product="alpha 1 type III collagen preproprotein"
                     /protein_id="NP_000081.1"
                     /db_xref="GI:4502951"
                     /db_xref="LocusID:1281"
                     /db_xref="MIM:120180"
                     /translation="MMSFVQKGSWLLLALLHPTIILAQQEAVEGGCSHLGQSYADRDV
                     WKPEPCQICVCDSGSVLCDDIICDDQELDCPNPEIPFGECCAVCPQPPTAPTRPPNGQ
                     GPQGPKGDPGPPGIPGRNGDPGIPGQPGSPGSPGPPGICESCPTGPQNYSPQYDSYDV
                     KSGVAVGGLAGYPGPAGPPGPPGPPGTSGHPGSPGSPGYQGPPGEPGQAGPSGPPGPP
                     GAIGPSGPAGKDGESGRPGRPGERGLPGPPGIKGPAGIPGFPGMKGHRGFDGRNGEKG
                     ETGAPGLKGENGLPGENGAPGPMGPRGAPGERGRPGLPGAAGARGNDGARGSDGQPGP
                     PGPPGTAGFPGSPGAKGEVGPAGSPGSNGAPGQRGEPGPQGHAGAQGPPGPPGINGSP
                     GGKGEMGPAGIPGAPGLMGARGPPGPAGANGAPGLRGGAGEPGKNGAKGEPGPRGERG
                     EAGIPGVPGAKGEDGKDGSPGEPGANGLPGAAGERGAPGFRGPAGPNGIPGEKGPAGE
                     RGAPGPAGPRGAAGEPGRDGVPGGPGMRGMPGSPGGPGSDGKPGPPGSQGESGRPGPP
                     GPSGPRGQPGVMGFPGPKGNDGAPGKNGERGGPGGPGPQGPPGKNGETGPQGPPGPTG
                     PGGDKGDTGPPGPQGLQGLPGTGGPPGENGKPGEPGPKGDAGAPGAPGGKGDAGAPGE
                     RGPPGLAGAPGLRGGAGPPGPEGGKGAAGPPGPPGAAGTPGLQGMPGERGGLGSPGPK
                     GDKGEPGGPGADGVPGKDGPRGPTGPIGPPGPAGQPGDKGEGGAPGLPGIAGPRGSPG
                     ERGETGPPGPAGFPGAPGQNGEPGGKGERGAPGEKGEGGPPGVAGPPGGSGPAGPPGP
                     QGVKGERGSPGGPGAAGFPGARGLPGPPGSNGNPGPPGPSGSPGKDGPPGPAGNTGAP
                     GSPGVSGPKGDAGQPGEKGSPGAQGPPGAPGPLGIAGITGARGLAGPPGMPGPRGSPG
                     PQGVKGESGKPGANGLSGERGPPGPQGLPGLAGTAGEPGRDGNPGSDGLPGRDGSPGG
                     KGDRGENGSPGAPGAPGHPGPPGPVGPAGKSGDRGESGPAGPAGAPGPAGSRGAPGPQ
                     GPRGDKGETGERGAAGIKGHRGFPGNPGAPGSPGPAGQQGAIGSPGPAGPRGPVGPSG
                     PPGKDGTSGHPGPIGPPGPRGNRGERGSEGSPGHPGQPGPPGPPGAPGPCCGGVGAAA
                     IAGIGGEKAGGFAPYYGDEPMDFKINTDEIMTSLKSVNGQIESLISPDGSRKNPARNC
                     RDLKFCHPELKSGEYWVDPNQGCKLDAIKVFCNMETGETCISANPLNVPRKHWWTDSS
                     AEKKHVWFGESMDGGFQFSYGNPELPEDVLDVQLAFLRLLSSRASQNITYHCKNSIAY
                     MDQASGNVKKALKLMGSNEGEFKAEGNSKFTYTVLEDGCTKHTGEWSKTVFEYRTRKA
                     VRLPIVDIAPYDIGGPDQEFGVDVGPVCFL"
     sig_peptide     118..186
                     /gene="COL3A1"
     misc_feature    211..381
                     /gene="COL3A1"
                     /note="Region: pfam00093, vwc, von Willebrand factor type
                     C domain. The high cutoff was used to prevent overlap with
                     pfam00094"
     misc_feature    211..381
                     /gene="COL3A1"
                     /note="Region: smart00214, VWC, von Willebrand factor
                     (vWF) type C domain"
     mat_peptide     562..3732
                     /gene="COL3A1"
                     /product="alpha 1 type III collagen"
     misc_feature    3808..4515
                     /gene="COL3A1"
                     /note="Region: smart00038, COLFI, Fibrillar collagens
                     C-terminal domain; Found at C-termini of fibrillar
                     collagens: Ephydatia muelleri procollagen EMF1alpha,
                     vertebrate collagens alpha(1)III, alpha(1)II, alpha(2)V
                     etc"
     misc_feature    3859..4512
                     /gene="COL3A1"
                     /note="Region: pfam01410, COLFI, Fibrillar collagen
                     C-terminal domain. Found at C-termini of fibrillar
                     collagens: Ephydatia muelleri procollagen EMF1 alpha,
                     vertebrate collagens alpha(1)III, alpha(1)II, alpha(2)V
                     etc"
     misc_feature    187..4515
                     /gene="COL3A1"
                     /note="Region: alpha 1 type III collagen proprotein"
     variation       2119
                     /gene="COL3A1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1801183"
     variation       2209
                     /gene="COL3A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3817316"
     variation       2361
                     /gene="COL3A1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1801184"
     variation       3730
                     /gene="COL3A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2271683"
     variation       4421
                     /gene="COL3A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3197045"
     variation       4561
                     /gene="COL3A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:8224"
     variation       4606
                     /gene="COL3A1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:11162"
     variation       5359
                     /gene="COL3A1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3106802"
     polyA_signal    5467..5472
                     /gene="COL3A1"
     polyA_site      5489
                     /gene="COL3A1"
BASE COUNT     1336 a   1317 c   1549 g   1287 t
ORIGIN      
        1 ggctgagttt tatgacgggc ccggtgctga agggcaggga acaacttgat ggtgctactt
       61 tgaactgctt ttcttttctc ctttttgcac aaagagtctc atgtctgata tttagacatg
      121 atgagctttg tgcaaaaggg gagctggcta cttctcgctc tgcttcatcc cactattatt
      181 ttggcacaac aggaagctgt tgaaggagga tgttcccatc ttggtcagtc ctatgcggat
      241 agagatgtct ggaagccaga accatgccaa atatgtgtct gtgactcagg atccgttctc
      301 tgcgatgaca taatatgtga cgatcaagaa ttagactgcc ccaacccaga aattccattt
      361 ggagaatgtt gtgcagtttg cccacagcct ccaactgctc ctactcgccc tcctaatggt
      421 caaggacctc aaggccccaa gggagatcca ggccctcctg gtattcctgg gagaaatggt
      481 gaccctggta ttccaggaca accagggtcc cctggttctc ctggcccccc tggaatctgt
      541 gaatcatgcc ctactggtcc tcagaactat tctccccagt atgattcata tgatgtcaag
      601 tctggagtag cagtaggagg actcgcaggc tatcctggac cagctggccc cccaggccct
      661 cccggtcccc ctggtacatc tggtcatcct ggttcccctg gatctccagg ataccaagga
      721 ccccctggtg aacctgggca agctggtcct tcaggccctc caggacctcc tggtgctata
      781 ggtccatctg gtcctgctgg aaaagatgga gaatcaggta gacccggacg acctggagag
      841 cgaggattgc ctggacctcc aggtatcaaa ggtccagctg ggatacctgg attccctggt
      901 atgaaaggac acagaggctt cgatggacga aatggagaaa agggtgaaac aggtgctcct
      961 ggattaaagg gtgaaaatgg tcttccaggc gaaaatggag ctcctggacc catgggtcca
     1021 agaggggctc ctggtgagcg aggacggcca ggacttcctg gggctgcagg tgctcggggt
     1081 aatgacggtg ctcgaggcag tgatggtcaa ccaggccctc ctggtcctcc tggaactgcc
     1141 ggattccctg gatcccctgg tgctaagggt gaagttggac ctgcagggtc tcctggttca
     1201 aatggtgccc ctggacaaag aggagaacct ggacctcagg gacacgctgg tgctcaaggt
     1261 cctcctggcc ctcctgggat taatggtagt cctggtggta aaggcgaaat gggtcccgct
     1321 ggcattcctg gagctcctgg actgatggga gcccggggtc ctccaggacc agccggtgct
     1381 aatggtgctc ctggactgcg aggtggtgca ggtgagcctg gtaagaatgg tgccaaagga
     1441 gagcccggac cacgtggtga acgcggtgag gctggtattc caggtgttcc aggagctaaa
     1501 ggcgaagatg gcaaggatgg atcacctgga gaacctggtg caaatgggct tccaggagct
     1561 gcaggagaaa ggggtgcccc tgggttccga ggacctgctg gaccaaatgg catcccagga
     1621 gaaaagggtc ctgctggaga gcgtggtgct ccaggccctg cagggcccag aggagctgct
     1681 ggagaacctg gcagagatgg cgtccctgga ggtccaggaa tgaggggcat gcccggaagt
     1741 ccaggaggac caggaagtga tgggaaacca gggcctcccg gaagtcaagg agaaagtggt
     1801 cgaccaggtc ctcctgggcc atctggtccc cgaggtcagc ctggtgtcat gggcttcccc
     1861 ggtcctaaag gaaatgatgg tgctcctggt aagaatggag aacgaggtgg ccctggagga
     1921 cctggccctc agggtcctcc tggaaagaat ggtgaaactg gacctcaagg acccccaggg
     1981 cctactgggc ctggtggtga caaaggagac acaggacccc ctggtccaca aggattacaa
     2041 ggcttgcctg gtacaggtgg tcctccagga gaaaatggaa aacctgggga accaggtcca
     2101 aagggtgatg ccggtgcacc tggagctcca ggaggcaagg gtgatgctgg tgcccctggt
     2161 gaacgtggac ctcctggatt ggcaggggcc ccaggactta gaggtggagc tggtccccct
     2221 ggtcccgaag gaggaaaggg tgctgctggt cctcctgggc cacctggtgc tgctggtact
     2281 cctggtctgc aaggaatgcc tggagaaaga ggaggtcttg gaagtcctgg tccaaagggt
     2341 gacaagggtg aaccaggcgg cccaggtgct gatggtgtcc cagggaaaga tggcccaagg
     2401 ggtcctactg gtcctattgg tcctcctggc ccagctggcc agcctggaga taagggtgaa
     2461 ggtggtgccc ccggacttcc aggtatagct ggacctcgtg gtagccctgg tgagagaggt
     2521 gaaactggcc ctccaggacc tgctggtttc cctggtgctc ctggacagaa tggtgaacct
     2581 ggtggtaaag gagaaagagg ggctccgggt gagaaaggtg aaggaggccc tcctggagtt
     2641 gcaggacccc ctggaggttc tggacctgct ggtcctcctg gtccccaagg tgtcaaaggt
     2701 gaacgtggca gtcctggtgg acctggtgct gctggcttcc ctggtgctcg tggtcttcct
     2761 ggtcctcctg gtagtaatgg taacccagga cccccaggtc ccagcggttc tccaggcaag
     2821 gatgggcccc caggtcctgc gggtaacact ggtgctcctg gcagccctgg agtgtctgga
     2881 ccaaaaggtg atgctggcca accaggagag aagggatcgc ctggtgccca gggcccacca
     2941 ggagctccag gcccacttgg gattgctggg atcactggag cacggggtct tgcaggacca
     3001 ccaggcatgc caggtcctag gggaagccct ggccctcagg gtgtcaaggg tgaaagtggg
     3061 aaaccaggag ctaacggtct cagtggagaa cgtggtcccc ctggacccca gggtcttcct
     3121 ggtctggctg gtacagctgg tgaacctgga agagatggaa accctggatc agatggtctt
     3181 ccaggccgag atggatctcc tggtggcaag ggtgatcgtg gtgaaaatgg ctctcctggt
     3241 gcccctggcg ctcctggtca tccaggccca cctggtcctg tcggtccagc tggaaagagt
     3301 ggtgacagag gagaaagtgg ccctgctggc cctgctggtg ctcccggtcc tgctggttcc
     3361 cgaggtgctc ctggtcctca aggcccacgt ggtgacaaag gtgaaacagg tgaacgtgga
     3421 gctgctggca tcaaaggaca tcgaggattc cctggtaatc caggtgcccc aggttctcca
     3481 ggccctgctg gtcagcaggg tgcaatcggc agtccaggac ctgcaggccc cagaggacct
     3541 gttggaccca gtggacctcc tggcaaagat ggaaccagtg gacatccagg tcccattgga
     3601 ccaccagggc ctcgaggtaa cagaggtgaa agaggatctg agggctcccc aggccaccca
     3661 gggcaaccag gccctcctgg acctcctggt gcccctggtc cttgctgtgg tggtgttgga
     3721 gccgctgcca ttgctgggat tggaggtgaa aaagctggcg gttttgcccc gtattatgga
     3781 gatgaaccaa tggatttcaa aatcaacacc gatgagatta tgacttcact caagtctgtt
     3841 aatggacaaa tagaaagcct cattagtcct gatggttctc gtaaaaaccc cgctagaaac
     3901 tgcagagacc tgaaattctg ccatcctgaa ctcaagagtg gagaatactg ggttgaccct
     3961 aaccaaggat gcaaattgga tgctatcaag gtattctgta atatggaaac tggggaaaca
     4021 tgcataagtg ccaatccttt gaatgttcca cggaaacact ggtggacaga ttctagtgct
     4081 gagaagaaac acgtttggtt tggagagtcc atggatggtg gttttcagtt tagctacggc
     4141 aatcctgaac ttcctgaaga tgtccttgat gtgcagctgg cattccttcg acttctctcc
     4201 agccgagctt cccagaacat cacatatcac tgcaaaaata gcattgcata catggatcag
     4261 gccagtggaa atgtaaagaa ggccctgaag ctgatggggt caaatgaagg tgaattcaag
     4321 gctgaaggaa atagcaaatt cacctacaca gttctggagg atggttgcac gaaacacact
     4381 ggggaatgga gcaaaacagt ctttgaatat cgaacacgca aggctgtgag actacctatt
     4441 gtagatattg caccctatga cattggtggt cctgatcaag aatttggtgt ggacgttggc
     4501 cctgtttgct ttttataaac caaactctat ctgaaatccc aacaaaaaaa atttaactcc
     4561 atatgtgttc ctcttgttct aatcttgtca accagtgcaa gtgaccgaca aaattccagt
     4621 tatttatttc caaaatgttt ggaaacagta taatttgaca aagaaaaatg atacttctct
     4681 ttttttgctg ttccaccaaa tacaattcaa atgctttttg ttttattttt ttaccaattc
     4741 caatttcaaa atgtctcaat ggtgctataa taaataaact tcaacactct ttatgataac
     4801 aacactgtgt tatattcttt gaatcctagc ccatctgcag agcaatgact gtgctcacca
     4861 gtaaaagata acctttcttt ctgaaatagt caaatacgaa attagaaaag ccctccctat
     4921 tttaactacc tcaactggtc agaaacacag attgtattct atgagtccca gaagatgaaa
     4981 aaaattttat acgttgataa aacttataaa tttcattgat taatctcctg gaagattggt
     5041 ttaaaaagaa aagtgtaatg caagaattta aagaaatatt tttaaagcca caattatttt
     5101 aatattggat atcaactgct tgtaaaggtg ctcctctttt ttcttgtcat tgctggtcaa
     5161 gattactaat atttgggaag gctttaaaga cgcatgttat ggtgctaatg tactttcact
     5221 tttaaactct agatcagaat tgttgacttg cattcagaac ataaatgcac aaaatctgta
     5281 catgtctccc atcagaaaga ttcattggca tgccacaggg attctcctcc ttcatcctgt
     5341 aaaggtcaac aataaaaacc aaattatggg gctgcttttg tcacactagc atagagaatg
     5401 tgttgaaatt taactttgta agcttgtatg tggttgttga tctttttttt ccttacagac
     5461 acccataata aaatatcata ttaaaattc
//



Revised: July 5, 2002.
 
 


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1: NM_007270. Homo sapiens FK50...[gi:24307926] Links  


LOCUS       FKBP9                   2517 bp    mRNA    linear   PRI 24-OCT-2002
DEFINITION  Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA.
ACCESSION   NM_007270
VERSION     NM_007270.1  GI:24307926
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2517)
  AUTHORS   Patterson,C.E., Gao,J., Rooney,A.P. and Davis,E.C.
  TITLE     Genomic organization of mouse and human 65 kDa FK506-binding
            protein genes and evolution of the FKBP multigene family
  JOURNAL   Genomics 79 (6), 881-889 (2002)
  MEDLINE   22032991
   PUBMED   12036304
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC011872.1.
FEATURES             Location/Qualifiers
     source          1..2517
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p11.1"
                     /clone="MGC:20531 IMAGE:3028515"
                     /tissue_type="Muscle, rhabdomyosarcoma"
                     /clone_lib="NIH_MGC_17"
                     /lab_host="DH10B-R"
                     /note="Vector: pOTB7"
     gene            1..2517
                     /gene="FKBP9"
                     /note="FKBP60; FKBP63"
                     /db_xref="LocusID:11328"
     CDS             457..885
                     /gene="FKBP9"
                     /note="FK506-binding protein 9 (63 kD); FK506 binding
                     protein 9 (63 kD)"
                     /codon_start=1
                     /product="FK506 binding protein 9, 63 kDa"
                     /protein_id="NP_009201.1"
                     /db_xref="GI:24307927"
                     /db_xref="LocusID:11328"
                     /translation="MDMGLREMCVGEKRTVIIPPHLGYGEAGVDGEVPGSAVLVFDIE
                     LLELVAGLPEGYMFIWNGEVSPNLFEEIDKDGNGEVLLEEFSEYIHAQVASGKGKLAP
                     GFDAELIVKNMFTNQDRNGDGKVTAEEFKLKDQEAKQDEL"
     misc_feature    466..594
                     /gene="FKBP9"
                     /note="FKBP; Region: FKBP-type peptidyl-prolyl cis-trans
                     isomerase"
                     /db_xref="CDD:pfam00254"
BASE COUNT      685 a    538 c    650 g    644 t
ORIGIN      
        1 ggcacgaggg tgagccggag agggtgaagc aggcaggaag ctgcaggccg gcggtggatg
       61 gggccaggaa gcatgcaggg ggagtgagga ccgtgtatga gagaaacact gcccaagaga
      121 gaagaaagaa aatcacagga cccgaggaaa aagaatgagt ggtgtgttca gagatgacac
      181 atgacaacaa attgtttgct tggaggattt tcttacgcgt gcgtgtttaa actggcctca
      241 aggaggaaga agaaacatgc gttcctggat gactgagttc tggaatattc tgtcataaga
      301 ctttgcaact ggagtagccc cagaaaaagg caggcagtgg gagttggctc cctccccaaa
      361 gccatccctg agttggcttt gttttgggtt cctcccaggt ggaatttagg caaaacttac
      421 agtattgttc tgggatctgg gcaagttgtg ttggggatgg acatgggtct cagagagatg
      481 tgcgttggcg agaaacggac agtgatcatt ccgcctcacc tgggctatgg ggaagctggc
      541 gtggatggag aagtgcccgg cagtgccgta ttagtgtttg acattgagct gctggagctg
      601 gtggctggcc ttcccgaggg gtacatgttc atatggaatg gtgaggtgtc acccaacctt
      661 tttgaagaaa ttgacaagga tggcaacgga gaagtcctcc tggaagagtt ctcagagtac
      721 attcacgccc aggtggcatc tggcaaaggg aaactcgctc ctggctttga tgctgagctg
      781 attgtgaaga atatgttcac caaccaggac cggaatggag atgggaaggt cacagctgag
      841 gaatttaaac tcaaagacca ggaagccaaa caggatgaac tctaaacctg gcacgaacca
      901 gatggtgcca gggagtacgt gacaccaagc caactgtgtg gcagaacgtg cagtgagggt
      961 gcaagggtct ttcagaagtt gcatcattag ccagtagtag gtgggtcaca tagtacctgg
     1021 tgtacacatc ggggtgggtt gatatatggg gtgagaagtt taggctgatc gccagtgata
     1081 gtaaacaaaa tctgtgcaga gggccttagc atgggatgtg tccagtattg aaaaggctgc
     1141 actgccaacc atgatttgtg aaccttctgg gaaattttgt tattaaaaga atatatagtg
     1201 tcagacggaa gttataatca tcttggagga accataagaa aaagtgtcca gggtatctat
     1261 ataaagaggg ttaaattttt ttttaacttg ctggttaaaa cattttagaa atattcttga
     1321 gatgggcagg agagtcaaag ggcttgcttg ccccagcaga gttcccagca gacagccatg
     1381 gctcttccca gcagcctgtg caaattctga tgatgacccc acccccgcac acgcacacgc
     1441 acatcatgct tttccagctc atcacacccc gccccactat gggcctacca ttaatagtgt
     1501 atatcttgga ggttaaaaga gccttttgga cagaaaactg ggccaggaaa aggcatctca
     1561 gaccacaaat agagaatttg attcctcatt tgccacataa gtcatctgct tagcttttcc
     1621 tttctttttt tttttttttt tttttttgga ggcagagtct ccgtttgtcg ccaggctgga
     1681 gtgcagtggt gccatctcgg ctcactgcag cactgtctcg gctcactgca gcctccgcct
     1741 cccgtattca agcgattctc ctgtctcagc ctcctgagta gctaggacta caggtgtgca
     1801 ccaccacgcc ccgctaattt ttgtattttt ggtagagacg gggtttcacc gtgttggcca
     1861 ggatggtctc aatctcgacc tcgtgatccg cccacctcgg cctcccaaag tgttgggatt
     1921 acaggcatga atcaccatgc ctagccactt agttttttgt cattcccacc tttctatccc
     1981 atagaacact cttttttatc ttccctgaac catattgatg agataaatag ggctgggggc
     2041 tgggccccgc tggtcactca acagagtatt tcccttggcc gagatggaag ttttgtccca
     2101 atagatgagc tgctgagcat caacaaggtg acatttttct gctgcccatt tgtgtcctgg
     2161 agacggtggt accctgaagg cagaggccag ctgctgcaag acagcaatga cagtccacct
     2221 gccggcctga ttcctgcatc atggaataac cacatggcta ccttctatcc tctgttccca
     2281 aatggtggtg gcacttatcc tgaagtcatc aatgatttcc ctttgaaact actttatttt
     2341 actaatttaa actattttgt actgatgtag ccctgaggta gttcatgaaa atgctgtgca
     2401 ctcattccat ggaataaatg ttggaaagct gatcttttct gatataaaat gttgaattat
     2461 aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaa
//



Revised: July 5, 2002.
 
 


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&&&&&&&


    
 
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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_000474. Homo sapiens twis...[gi:17978464] Links  


LOCUS       TWIST                   1396 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens twist homolog (acrocephalosyndactyly 3;
            Saethre-Chotzen syndrome) (Drosophila) (TWIST), mRNA.
ACCESSION   NM_000474
VERSION     NM_000474.2  GI:17978464
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1396)
  AUTHORS   Bianchi,D.W., Cirillo-Silengo,M., Luzzatti,L. and Greenstein,R.M.
  TITLE     Interstitial deletion of the short arm of chromosome 7 without
            craniosynostosis
  JOURNAL   Clin. Genet. 19 (6), 456-461 (1981)
  MEDLINE   82049227
   PUBMED   7296937
REFERENCE   2  (bases 1 to 1396)
  AUTHORS   Brueton,L.A., van Herwerden,L., Chotai,K.A. and Winter,R.M.
  TITLE     The mapping of a gene for craniosynostosis: evidence for linkage of
            the Saethre-Chotzen syndrome to distal chromosome 7p
  JOURNAL   J. Med. Genet. 29 (10), 681-685 (1992)
  MEDLINE   93059268
   PUBMED   1433226
REFERENCE   3  (bases 1 to 1396)
  AUTHORS   Rose,C.S., King,A.A., Summers,D., Palmer,R., Yang,S., Wilkie,A.O.,
            Reardon,W., Malcolm,S. and Winter,R.M.
  TITLE     Localization of the genetic locus for Saethre-Chotzen syndrome to a
            6 cM region of chromosome 7 using four cases with apparently
            balanced translocations at 7p21.2
  JOURNAL   Hum. Mol. Genet. 3 (8), 1405-1408 (1994)
  MEDLINE   95078849
   PUBMED   7987323
REFERENCE   4  (bases 1 to 1396)
  AUTHORS   Maw,M., Kar,B., Biswas,J., Biswas,P., Nancarrow,D., Bridges,R.,
            Kumaramanickavel,G., Denton,M. and Badrinath,S.S.
  TITLE     Linkage of blepharophimosis syndrome in a large Indian pedigree to
            chromosome 7p
  JOURNAL   Hum. Mol. Genet. 5 (12), 2049-2054 (1996)
  MEDLINE   97123515
   PUBMED   8968762
REFERENCE   5  (bases 1 to 1396)
  AUTHORS   Bourgeois,P., Stoetzel,C., Bolcato-Bellemin,A.L., Mattei,M.G. and
            Perrin-Schmitt,F.
  TITLE     The human H-twist gene is located at 7p21 and encodes a B-HLH
            protein that is 96% similar to its murine M-twist counterpart
  JOURNAL   Mamm. Genome 7 (12), 915-917 (1996)
  MEDLINE   97148940
   PUBMED   8995765
REFERENCE   6  (bases 1 to 1396)
  AUTHORS   Howard,T.D., Paznekas,W.A., Green,E.D., Chiang,L.C., Ma,N., Ortiz
            de Luna,R.I., Garcia Delgado,C., Gonzalez-Ramos,M., Kline,A.D. and
            Jabs,E.W.
  TITLE     Mutations in TWIST, a basic helix-loop-helix transcription factor,
            in Saethre-Chotzen syndrome
  JOURNAL   Nat. Genet. 15 (1), 36-41 (1997)
  MEDLINE   97141916
   PUBMED   8988166
REFERENCE   7  (bases 1 to 1396)
  AUTHORS   el Ghouzzi,V., Le Merrer,M., Perrin-Schmitt,F., Lajeunie,E.,
            Benit,P., Renier,D., Bourgeois,P., Bolcato-Bellemin,A.L.,
            Munnich,A. and Bonaventure,J.
  TITLE     Mutations of the TWIST gene in the Saethre-Chotzen syndrome
  JOURNAL   Nat. Genet. 15 (1), 42-46 (1997)
  MEDLINE   97141917
   PUBMED   8988167
REFERENCE   8  (bases 1 to 1396)
  AUTHORS   Wang,S.M., Coljee,V.W., Pignolo,R.J., Rotenberg,M.O.,
            Cristofalo,V.J. and Sierra,F.
  TITLE     Cloning of the human twist gene: its expression is retained in
            adult mesodermally-derived tissues
  JOURNAL   Gene 187 (1), 83-92 (1997)
  MEDLINE   97225800
   PUBMED   9073070
REFERENCE   9  (bases 1 to 1396)
  AUTHORS   Krebs,I., Weis,I., Hudler,M., Rommens,J.M., Roth,H., Scherer,S.W.,
            Tsui,L.C., Fuchtbauer,E.M., Grzeschik,K.H., Tsuji,K. and Kunz,J.
  TITLE     Translocation breakpoint maps 5 kb 3' from TWIST in a patient
            affected with Saethre-Chotzen syndrome
  JOURNAL   Hum. Mol. Genet. 6 (7), 1079-1086 (1997)
  MEDLINE   97358582
   PUBMED   9215678
REFERENCE   10 (bases 1 to 1396)
  AUTHORS   Hamamori,Y., Sartorelli,V., Ogryzko,V., Puri,P.L., Wu,H.Y.,
            Wang,J.Y., Nakatani,Y. and Kedes,L.
  TITLE     Regulation of histone acetyltransferases p300 and PCAF by the bHLH
            protein twist and adenoviral oncoprotein E1A
  JOURNAL   Cell 96 (3), 405-413 (1999)
  MEDLINE   99148273
   PUBMED   10025406
REFERENCE   11 (bases 1 to 1396)
  AUTHORS   Lee,M.S., Lowe,G., Flanagan,S., Kuchler,K. and Glackin,C.A.
  TITLE     Human Dermo-1 has attributes similar to twist in early bone
            development
  JOURNAL   Bone 27 (5), 591-602 (2000)
  MEDLINE   20517301
   PUBMED   11062344
REFERENCE   12 (bases 1 to 1396)
  AUTHORS   Dollfus,H., Kumaramanickavel,G., Biswas,P., Stoetzel,C.,
            Quillet,R., Denton,M., Maw,M. and Perrin-Schmitt,F.
  TITLE     Identification of a new TWIST mutation (7p21) with variable eyelid
            manifestations supports locus homogeneity of BPES at 3q22
  JOURNAL   J. Med. Genet. 38 (7), 470-472 (2001)
  MEDLINE   21367233
   PUBMED   11474656
REFERENCE   13 (bases 1 to 1396)
  AUTHORS   Dollfus,H., Biswas,P., Kumaramanickavel,G., Stoetzel,C.,
            Quillet,R., Biswas,J., Lajeunie,E., Renier,D. and Perrin-Schmitt,F.
  TITLE     Saethre-Chotzen syndrome: notable intrafamilial phenotypic
            variability in a large family with Q28X TWIST mutation
  JOURNAL   Am. J. Med. Genet. 109 (3), 218-225 (2002)
  MEDLINE   22020455
   PUBMED   11977182
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U80998.1 and X99268.1.
            On Dec 26, 2001 this sequence version replaced gi:4507740.
            Summary: Basic helix-loop-helix (bHLH) transcription factors have
            been implicated in cell lineage determination and differentiation.
            The protein encoded by this gene is a bHLH transcription factor and
            shares similarity with another bHLH transcription factor, Dermo1.
            The strongest expression of this mRNA is in placental tissue; in
            adults, mesodermally derived tissues express this mRNA
            preferentially. Mutations in this gene have been found in patients
            with Saethre-Chotzen syndrome.
FEATURES             Location/Qualifiers
     source          1..1396
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p21.2"
     gene            1..1396
                     /gene="TWIST"
                     /note="SCS; ACS3; BPES2; BPES3; H-twist"
                     /db_xref="LocusID:7291"
                     /db_xref="MIM:601622"
     CDS             82..690
                     /gene="TWIST"
                     /note="TWIST, drosophila, homolog of;
                     acrocephalosyndactyly 3 (Saethre-Chotzen syndrome);
                     Blepharophimosis, epicanthus inversus, and ptosis 2;
                     Blepharophimosis, epicanthus inversus, and ptosis 3;
                     blepharophimosis, epicanthus inversus and ptosis 3"
                     /codon_start=1
                     /product="twist"
                     /protein_id="NP_000465.1"
                     /db_xref="GI:4507741"
                     /db_xref="LocusID:7291"
                     /db_xref="MIM:601622"
                     /translation="MMQDVSSSPVSPADDSLSNSEEEPDRQQPPSGKRGGRKRRSSRR
                     SAGGGAGPGGAAGGGVGGGDEPGSPAQGKRGKKSAGCGGGGGAGGGGGSSSGGGSPQS
                     YEELQTQRVMANVRERQRTQSLNEAFAALRKIIPTLPSDKLSKIQTLKLAARYIDFLY
                     QVLQSDELDSKMASCSYVAHERLSYAFSVWRMEGAWSMSASH"
     misc_feature    406..558
                     /gene="TWIST"
                     /note="Region: pfam00010, HLH, Helix-loop-helix
                     DNA-binding domain"
     misc_feature    421..576
                     /gene="TWIST"
                     /note="Region: smart00353, HLH, helix loop helix domain"
     variation       172
                     /gene="TWIST"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1800126"
     variation       complement(203)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2522204"
     variation       complement(204)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2522203"
     variation       complement(215)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2522202"
     variation       complement(216)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2522201"
     polyA_signal    1369..1374
                     /gene="TWIST"
     polyA_signal    1373..1378
                     /gene="TWIST"
     polyA_site      1394
                     /gene="TWIST"
                     /evidence=experimental
BASE COUNT      357 a    353 c    403 g    283 t
ORIGIN      
        1 gcgggggaag ctggcgggct gaggcgcccc gctcttctcc tctgccccgg gcccgcgagg
       61 ccacgcgtcg ccgctcgaga gatgatgcag gacgtgtcca gctcgccagt ctcgccggcc
      121 gacgacagcc tgagcaacag cgaggaagag ccagaccggc agcagccgcc gagcggcaag
      181 cgcgggggac gcaagcggcg cagcagcagg cgcagcgcgg gcggcggcgc ggggcccggc
      241 ggagccgcgg gtgggggcgt cggaggcggc gacgagccgg gcagcccggc ccagggcaag
      301 cgcggcaaga agtctgcggg ctgtggcggc ggcggcggcg cgggcggcgg cggcggcagc
      361 agcagcggcg gcgggagtcc gcagtcttac gaggagctgc agacgcagcg ggtcatggcc
      421 aacgtgcggg agcgccagcg cacccagtcg ctgaacgagg cgttcgccgc gctgcggaag
      481 atcatcccca cgctgccctc ggacaagctg agcaagattc agaccctcaa gctggcggcc
      541 aggtacatcg acttcctcta ccaggtcctc cagagcgacg agctggactc caagatggca
      601 agctgcagct atgtggctca cgagcggctc agctacgcct tctcggtctg gaggatggag
      661 ggggcctggt ccatgtccgc gtcccactag caggcggagc cccccacccc ctcagcaggg
      721 ccggagacct agatgtcatt gtttccagag aaggagaaaa tggacagtct agagactctg
      781 gagctggata actaaaaata aaaatatatg ccaaagattt tcttggaaat tagaagagca
      841 aaatccaaat tcaaagaaac agggcgtggg gcgcactttt aaaagagaaa gcgagacagg
      901 cccgtggaca gtgattccca gacgggcagc ggcaccatcc tcacacctct gcattctgat
      961 agaagtctga acagttgttt gtgttttttt tttttttttt tttgacgaag aatgttttta
     1021 tttttatttt tttcatgcat gcattctcaa gaggtcgtgc caatcagcca ctgaaaggaa
     1081 aggcatcact atggactttc tctattttaa aatggtaaca atcagaggaa ctataagaac
     1141 acctttagaa ataaaaatac tgggatcaaa ctggcctgca aaaccatagt cagttaattc
     1201 tttttttcat ccttcctctg aggggaaaaa caaaaaaaaa cttaaaatac aaaaaacaac
     1261 attctattta tttattgagg acccatggta aaatgcaaat agatccggtg tctaaatgca
     1321 ttcatatttt tatgattgtt ttgtaaatat ctttgtatat ttttctgcaa taaataaata
     1381 taaaaaattt agagaa
//



Revised: July 5, 2002.
 
 


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1: NM_001854. Homo sapiens coll...[gi:18375517] Links  


LOCUS       COL11A1                 6319 bp    mRNA    linear   PRI 25-JAN-2002
DEFINITION  Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript
            variant A, mRNA.
ACCESSION   NM_001854
VERSION     NM_001854.2  GI:18375517
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6319)
  AUTHORS   Bernard,M., Yoshioka,H., Rodriguez,E., Van der Rest,M., Kimura,T.,
            Ninomiya,Y., Olsen,B.R. and Ramirez,F.
  TITLE     Cloning and sequencing of pro-alpha 1 (XI) collagen cDNA
            demonstrates that type XI belongs to the fibrillar class of
            collagens and reveals that the expression of the gene is not
            restricted to cartilagenous tissue
  JOURNAL   J. Biol. Chem. 263 (32), 17159-17166 (1988)
  MEDLINE   89034222
   PUBMED   3182841
REFERENCE   2  (bases 158 to 1992)
  AUTHORS   Yoshioka,H. and Ramirez,F.
  TITLE     Pro-alpha 1(XI) collagen. Structure of the amino-terminal
            propeptide and expression of the gene in tumor cell lines
  JOURNAL   J. Biol. Chem. 265 (11), 6423-6426 (1990)
  MEDLINE   90202924
   PUBMED   1690726
REFERENCE   3  (bases 1 to 6319)
  AUTHORS   Yoshioka,H., Greenwel,P., Inoguchi,K., Truter,S., Inagaki,Y.,
            Ninomiya,Y. and Ramirez,F.
  TITLE     Structural and functional analysis of the promoter of the human
            alpha 1(XI) collagen gene
  JOURNAL   J. Biol. Chem. 270 (1), 418-424 (1995)
  MEDLINE   95113862
   PUBMED   7814404
REFERENCE   4  (bases 1 to 6319)
  AUTHORS   Zhidkova,N.I., Justice,S.K. and Mayne,R.
  TITLE     Alternative mRNA processing occurs in the variable region of the
            pro-alpha 1(XI) and pro-alpha 2(XI) collagen chains
  JOURNAL   J. Biol. Chem. 270 (16), 9486-9493 (1995)
  MEDLINE   95238468
   PUBMED   7721876
REFERENCE   5  (bases 1 to 6319)
  AUTHORS   Richards,A.J., Yates,J.R., Williams,R., Payne,S.J., Pope,F.M.,
            Scott,J.D. and Snead,M.P.
  TITLE     A family with Stickler syndrome type 2 has a mutation in the
            COL11A1 gene resulting in the substitution of glycine 97 by valine
            in alpha 1 (XI) collagen
  JOURNAL   Hum. Mol. Genet. 5 (9), 1339-1343 (1996)
  MEDLINE   97026296
   PUBMED   8872475
REFERENCE   6  (bases 1 to 6319)
  AUTHORS   Annunen,S., Korkko,J., Czarny,M., Warman,M.L., Brunner,H.G.,
            Kaariainen,H., Mulliken,J.B., Tranebjaerg,L., Brooks,D.G.,
            Cox,G.F., Cruysberg,J.R., Curtis,M.A., Davenport,S.L.,
            Friedrich,C.A., Kaitila,I., Krawczynski,M.R., Latos-Bielenska,A.,
            Mukai,S., Olsen,B.R., Shinno,N., Somer,M., Vikkula,M.,
            Zlotogora,J., Prockop,D.J. and Ala-Kokko,L.
  TITLE     Splicing mutations of 54-bp exons in the COL11A1 gene cause
            Marshall syndrome, but other mutations cause overlapping
            Marshall/Stickler phenotypes
  JOURNAL   Am. J. Hum. Genet. 65 (4), 974-983 (1999)
  MEDLINE   20455728
   PUBMED   10486316
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from J04177.1, U12139.1 and
            AU118365.1.
            On Jan 25, 2002 this sequence version replaced gi:4502938.
            Summary: This gene encodes one of the two alpha chains of type XI
            collagen, a minor fibrillar collagen. Type XI collagen is a
            heterotrimer but the third alpha chain is a post-translationally
            modified alpha 1 type II chain. Mutations in this gene are
            associated with type II Stickler syndrome and with Marshall
            syndrome. Three transcript variants encoding different isoforms
            have been identified for this gene.
            Transcript Variant: This variant (A) utilizes alternate exon 6,
            designated exon 6A. The encoded isoform (A) has a 39 aa region
            specified by exon 6A, that differs from the corresponding 51 aa
            region encoded by exon 6B in isoform B.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6319
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p21"
     gene            1..6319
                     /gene="COL11A1"
                     /note="STL2; COLL6"
                     /db_xref="LocusID:1301"
                     /db_xref="MIM:120280"
     CDS             319..5739
                     /gene="COL11A1"
                     /note="isoform A is encoded by transcript variant A;
                     collagen XI, alpha-1 polypeptide"
                     /codon_start=1
                     /product="alpha 1 type XI collagen, isoform A
                     preproprotein"
                     /protein_id="NP_001845.2"
                     /db_xref="GI:18375518"
                     /db_xref="LocusID:1301"
                     /db_xref="MIM:120280"
                     /db_xref="LocusID:1301"
                     /db_xref="MIM:120280"
                     /translation="MEPWSSRWKTKRWLWDFTVTTLALTFLFQAREVRGAAPVDVLKA
                     LDFHNSPEGISKTTGFCTNRKNSKGSDTAYRVSKQAQLSAPTKQLFPGGTFPEDFSIL
                     FTVKPKKGIQSFLLSIYNEHGIQQIGVEVGRSPVFLFEDHTGKPAPEDYPLFRTVNIA
                     DGKWHRVAISVEKKTVTMIVDCKKKTTKPLDRSERAIVDTNGITVFGTRILDEEVFEG
                     DIQQFLITGDPKAAYDYCEHYSPDCDSSAPKAAQAQEPQIDEYAPEDIIEYDYEYGEA
                     EYKEAESVTEGPTVTEETIAQTEANIVDDFQEYNYGTMESYQTEAPRHVSGTNEPNPV
                     EEIFTEEYLTGEDYDSQRKNSEDTLYENKEIDGRDSDLLVDGDLGEYDFYEYKEYEDK
                     PTSPPNEEFGPGVPAETDITETSINGHGAYGEKGQKGEPAVVEPGMLVEGPPGPAGPA
                     GIMGPPGLQGPTGPPGDPGDRGPPGRPGLPGADGLPGPPGTMLMLPFRYGGDGSKGPT
                     ISAQEAQAQAILQQARIALRGPPGPMGLTGRPGPVGGPGSSGAKGESGDPGPQGPRGV
                     QGPPGPTGKPGKRGRPGADGGRGMPGEPGAKGDRGFDGLPGLPGDKGHRGERGPQGPP
                     GPPGDDGMRGEDGEIGPRGLPGEAGPRGLLGPRGTPGAPGQPGMAGVDGPPGPKGNMG
                     PQGEPGPPGQQGNPGPQGLPGPQGPIGPPGEKGPQGKPGLAGLPGADGPPGHPGKEGQ
                     SGEKGALGPPGPQGPIGYPGPRGVKGADGVRGLKGSKGEKGEDGFPGFKGDMGLKGDR
                     GEVGQIGPRGEDGPEGPKGRAGPTGDPGPSGQAGEKGKLGVPGLPGYPGRQGPKGSTG
                     FPGFPGANGEKGARGVAGKPGPRGQRGPTGPRGSRGARGPTGKPGPKGTSGGDGPPGP
                     PGERGPQGPQGPVGFPGPKGPPGPPGRMGCPGHPGQRGETGFQGKTGPPGPGGVVGPQ
                     GPTGETGPIGERGHPGPPGPPGEQGLPGAAGKEGAKGDPGPQGISGKDGPAGLRGFPG
                     ERGLPGAQGAPGLKGGEGPQGPPGPVGSPGERGSAGTAGPIGLPGRPGPQGPPGPAGE
                     KGAPGEKGPQGPAGRDGVQGPVGLPGPAGPAGSPGEDGDKGEIGEPGQKGSKGDKGEN
                     GPPGPPGLQGPVGAPGIAGGDGEPGPRGQQGMFGQKGDEGARGFPGPPGPIGLQGLPG
                     PPGEKGENGDVGPWGPPGPPGPRGPQGPNGADGPQGPPGSVGSVGGVGEKGEPGEAGN
                     PGPPGEAGVGGPKGERGEKGEAGPPGAAGPPGAKGPPGDDGPKGNPGPVGFPGDPGPP
                     GELGPAGQDGVGGDKGEDGDPGQPGPPGPSGEAGPPGPPGKRGPPGAAGAEGRQGEKG
                     AKGEAGAEGPPGKTGPVGPQGPAGKPGPEGLRGIPGPVGEQGLPGAAGQDGPPGPMGP
                     PGLPGLKGDPGSKGEKGHPGLIGLIGPPGEQGEKGDRGLPGTQGSPGAKGDGGIPGPA
                     GPLGPPGPPGLPGPQGPKGNKGSTGPAGQKGDSGLPGPPGPPGPPGEVIQPLPILSSK
                     KTRRHTEGMQADADDNILDYSDGMEEIFGSLNSLKQDIEHMKFPMGTQTNPARTCKDL
                     QLSHPDFPDGEYWIDPNQGCSGDSFKVYCNFTSGGETCIYPDKKSEGVRISSWPKEKP
                     GSWFSEFKRGKLLSYLDVEGNSINMVQMTFLKLLTASARQNFTYHCHQSAAWYDVSSG
                     SYDKALRFLGSNDEEMSYDNNPFIKTLYDGCTSRKGYEKTVIEINTPKIDQVPIVDVM
                     INDFGDQNQKFGFEVGPVCFLG"
     sig_peptide     319..426
                     /gene="COL11A1"
     misc_feature    430..1005
                     /gene="COL11A1"
                     /note="TSPN; Region: Thrombospondin N-terminal -like
                     domain"
                     /db_xref="CDD:pfam02210"
     misc_feature    430..1005
                     /gene="COL11A1"
                     /note="TSPN; Region: Thrombospondin N-terminal -like
                     domains."
                     /db_xref="CDD:smart00210"
     misc_feature    610..999
                     /gene="COL11A1"
                     /note="LamG; Region: Laminin G domain"
                     /db_xref="CDD:smart00282"
     mat_peptide     1852..5007
                     /gene="COL11A1"
                     /product="alpha 1 type XI collagen, isoform A"
     misc_feature    2611..2781
                     /gene="COL11A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    2614..2793
                     /gene="COL11A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    2623..2799
                     /gene="COL11A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    2632..2811
                     /gene="COL11A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    2641..2817
                     /gene="COL11A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    2659..2838
                     /gene="COL11A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    2668..2847
                     /gene="COL11A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    2677..2856
                     /gene="COL11A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    2686..2859
                     /gene="COL11A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    2695..2871
                     /gene="COL11A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    2704..2877
                     /gene="COL11A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    2713..2886
                     /gene="COL11A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    2722..2895
                     /gene="COL11A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    2731..2910
                     /gene="COL11A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    2740..2916
                     /gene="COL11A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    2749..2928
                     /gene="COL11A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    2758..2931
                     /gene="COL11A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    2794..2937
                     /gene="COL11A1"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies)"
                     /db_xref="CDD:pfam01391"
     misc_feature    5044..5733
                     /gene="COL11A1"
                     /note="COLFI; Region: Fibrillar collagens C-terminal
                     domain"
                     /db_xref="CDD:smart00038"
     misc_feature    5095..5730
                     /gene="COL11A1"
                     /note="COLFI; Region: Fibrillar collagen C-terminal
                     domain"
                     /db_xref="CDD:pfam01410"
     misc_feature    427..5739
                     /gene="COL11A1"
                     /note="alpha 1 type XI collagen, isoform A proprotein"
     misc_feature    1099..1215
                     /gene="COL11A1"
                     /note="Region: exon 6A"
     variation       3274
                     /gene="COL11A1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1051071"
     variation       3282
                     /gene="COL11A1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1051072"
     variation       3743
                     /gene="COL11A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1131487"
     variation       5037
                     /gene="COL11A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3753842"
     variation       5088
                     /gene="COL11A1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2229783"
     variation       5088
                     /gene="COL11A1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3753843"
     variation       5590
                     /gene="COL11A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1131490"
     variation       complement(5731)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1975916"
     variation       complement(5844)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1031820"
     variation       6261
                     /gene="COL11A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1051092"
     polyA_signal    6300..6305
                     /gene="COL11A1"
     variation       6300
                     /gene="COL11A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1051095"
     variation       6303
                     /gene="COL11A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1051096"
     polyA_site      6309
                     /gene="COL11A1"
BASE COUNT     1745 a   1396 c   1795 g   1383 t
ORIGIN      
        1 acacagtact ctcagcttgt tggtggaagc ccctcatctg ccttcattct gaaggcaggg
       61 cccggcagag gaaggatcag agggtcgcgg ccggagggtc ccggccggtg gggccaactc
      121 agagggagag gaaagggcta gagacacgaa gaacgcaaac catcaaattt agaagaaaaa
      181 gccctttgac tttttccccc tctccctccc caatggctgt gtagcaaaca tccctggcga
      241 taccttggaa aggacgaagt tggtctgcag tcgcaatttc gtgggttgag ttcacagttg
      301 tgagtgcggg gctcggagat ggagccgtgg tcctctaggt ggaaaacgaa acggtggctc
      361 tgggatttca ccgtaacaac cctcgcattg accttcctct tccaagctag agaggtcaga
      421 ggagctgctc cagttgatgt actaaaagca ctagattttc acaattctcc agagggaata
      481 tcaaaaacaa cgggattttg cacaaacaga aagaattcta aaggctcaga tactgcttac
      541 agagtttcaa agcaagcaca actcagtgcc ccaacaaaac agttatttcc aggtggaact
      601 ttcccagaag acttttcaat actatttaca gtaaaaccaa aaaaaggaat tcagtctttc
      661 cttttatcta tatataatga gcatggtatt cagcaaattg gtgttgaggt tgggagatca
      721 cctgtttttc tgtttgaaga ccacactgga aaacctgccc cagaagacta tcccctcttc
      781 agaactgtta acatcgctga cgggaagtgg catcgggtag caatcagcgt ggagaagaaa
      841 actgtgacaa tgattgttga ttgtaagaag aaaaccacga aaccacttga tagaagtgag
      901 agagcaattg ttgataccaa tggaatcacg gtttttggaa caaggatttt ggatgaagaa
      961 gtttttgagg gggacattca gcagtttttg atcacaggtg atcccaaggc agcatatgac
     1021 tactgtgagc attatagtcc agactgtgac tcttcagcac ccaaggctgc tcaagctcag
     1081 gaacctcaga tagatgagta tgcaccagag gatataatcg aatatgacta tgagtatggg
     1141 gaagcagagt ataaagaggc tgaaagtgta acagagggac ccactgtaac tgaggagaca
     1201 atagcacaga cggaggcaaa catcgttgat gattttcaag aatacaacta tggaacaatg
     1261 gaaagttacc agacagaagc tcctaggcat gtttctggga caaatgagcc aaatccagtt
     1321 gaagaaatat ttactgaaga atatctaacg ggagaggatt atgattccca gaggaaaaat
     1381 tctgaggata cactatatga aaacaaagaa atagacggca gggattctga tcttctggta
     1441 gatggagatt taggcgaata tgatttttat gaatataaag aatatgaaga taaaccaaca
     1501 agccccccta atgaagaatt tggtccaggt gtaccagcag aaactgatat tacagaaaca
     1561 agcataaatg gccatggtgc atatggagag aaaggacaga aaggagaacc agcagtggtt
     1621 gagcctggta tgcttgtcga aggaccacca ggaccagcag gacctgcagg tattatgggt
     1681 cctccaggtc tacaaggccc cactggaccc cctggtgacc ctggcgatag gggcccccca
     1741 ggacgtcctg gcttaccagg ggctgatggt ctacctggtc ctcctggtac tatgttgatg
     1801 ttaccgttcc gttatggtgg tgatggttcc aaaggaccaa ccatctctgc tcaggaagct
     1861 caggctcaag ctattcttca gcaggctcgg attgctctga gaggcccacc tggcccaatg
     1921 ggtctaactg gaagaccagg tcctgtgggg gggcctggtt catctggggc caaaggtgag
     1981 agtggtgatc caggtcctca gggccctcga ggcgtccagg gtccccctgg tccaacggga
     2041 aaacctggaa aaaggggtcg tccaggtgca gatggaggaa gaggaatgcc aggagaacct
     2101 ggggcaaagg gagatcgagg gtttgatgga cttccgggtc tgccaggtga caaaggtcac
     2161 aggggtgaac gaggtcctca aggtcctcca ggtcctcctg gtgatgatgg aatgagggga
     2221 gaagatggag aaattggacc aagaggtctt ccaggtgaag ctggcccacg aggtttgctg
     2281 ggtccaaggg gaactccagg agctccaggg cagcctggta tggcaggtgt agatggcccc
     2341 ccaggaccaa aagggaacat gggtccccaa ggggagcctg ggcctccagg tcaacaaggg
     2401 aatccaggac ctcagggtct tcctggtcca caaggtccaa ttggtcctcc tggtgaaaaa
     2461 ggaccacaag gaaaaccagg acttgctgga cttcctggtg ctgatgggcc tcctggtcat
     2521 cctgggaaag aaggccagtc tggagaaaag ggggctctgg gtccccctgg tccacaaggt
     2581 cctattggat acccgggccc ccggggagta aagggagcag atggtgtcag aggtctcaag
     2641 ggatctaaag gtgaaaaggg tgaagatggt tttccaggat tcaaaggtga catgggtcta
     2701 aaaggtgaca gaggagaagt tggtcaaatt ggcccaagag gggaagatgg ccctgaagga
     2761 cccaaaggtc gagcaggccc aactggagac ccaggtcctt caggtcaagc aggagaaaag
     2821 ggaaaacttg gagttccagg attaccagga tatccaggaa gacaaggtcc aaagggttcc
     2881 actggattcc ctgggtttcc aggtgccaat ggagagaaag gtgcacgggg agtagctggc
     2941 aaaccaggcc ctcggggtca gcgtggtcca acgggtcctc gaggttcaag aggtgcaaga
     3001 ggtcccactg ggaaacctgg gccaaagggc acttcaggtg gcgatggccc tcctggccct
     3061 ccaggtgaaa gaggtcctca aggacctcag ggtccagttg gattccctgg accaaaaggc
     3121 cctcctggac caccaggaag gatgggctgc ccaggacacc ctgggcaacg tggggagact
     3181 ggatttcaag gcaagaccgg ccctcctggg ccagggggag tggttggacc acagggacca
     3241 accggtgaga ctggtccaat aggggaacgt gggcatcctg gccctcctgg ccctcctggt
     3301 gagcaaggtc ttcctggtgc tgcaggaaaa gaaggtgcaa agggtgatcc aggtcctcaa
     3361 ggtatctcag ggaaagatgg accagcagga ttacgtggtt tcccagggga aagaggtctt
     3421 cctggagctc agggtgcacc tggactgaaa ggaggggaag gtccccaggg cccaccaggt
     3481 ccagttggct caccaggaga acgtgggtca gcaggtacag ctggcccaat tggtttacca
     3541 gggcgcccgg gacctcaggg tcctcctggt ccagctggag agaaaggtgc tcctggagaa
     3601 aaaggtcccc aagggcctgc agggagagat ggagttcaag gtcctgttgg tctcccaggg
     3661 ccagctggtc ctgccggctc ccctggggaa gacggagaca agggtgaaat tggtgagccg
     3721 ggacaaaaag gcagcaaggg tgacaaggga gaaaatggcc ctcccggtcc cccaggtctt
     3781 caaggaccag ttggtgcccc tggaattgct ggaggtgatg gtgaaccagg tcctagagga
     3841 cagcagggga tgtttgggca aaaaggtgat gagggtgcca gaggcttccc tggacctcct
     3901 ggtccaatag gtcttcaggg tctgccaggc ccacctggtg aaaaaggtga aaatggggat
     3961 gttggtccat gggggccacc tggtcctcca ggcccaagag gccctcaagg tcccaatgga
     4021 gctgatggac cacaaggacc cccaggttct gttggttcag ttggtggtgt tggagaaaag
     4081 ggtgaacctg gagaagcagg aaacccaggg cctcctgggg aagcaggtgt aggcggtccc
     4141 aaaggagaaa gaggagagaa aggggaagct ggtccacctg gagctgctgg acctccaggt
     4201 gccaaggggc cgccaggtga tgatggccct aagggtaacc cgggtcctgt tggttttcct
     4261 ggagatcctg gtcctcctgg ggaacttggc cctgcaggtc aagatggtgt tggtggtgac
     4321 aagggtgaag atggagatcc tggtcaaccg ggtcctcctg gcccatctgg tgaggctggc
     4381 ccaccaggtc ctcctggaaa acgaggtcct cctggagctg caggtgcaga gggaagacaa
     4441 ggtgaaaaag gtgctaaggg ggaagcaggt gcagaaggtc ctcctggaaa aaccggccca
     4501 gtcggtcctc agggacctgc aggaaagcct ggtccagaag gtcttcgggg catccctggt
     4561 cctgtgggag aacaaggtct ccctggagct gcaggccaag atggaccacc tggtcctatg
     4621 ggacctcctg gcttacctgg tctcaaaggt gaccctggct ccaagggtga aaagggacat
     4681 cctggtttaa ttggcctgat tggtcctcca ggagaacaag gggaaaaagg tgaccgaggg
     4741 ctccctggaa ctcaaggatc tccaggagca aaaggggatg ggggaattcc tggtcctgct
     4801 ggtcccttag gtccacctgg tcctccaggc ttaccaggtc ctcaaggccc aaagggtaac
     4861 aaaggctcta ctggacccgc tggccagaaa ggtgacagtg gtcttccagg gcctcctggg
     4921 cctccaggtc cacctggtga agtcattcag cctttaccaa tcttgtcctc caaaaaaacg
     4981 agaagacata ctgaaggcat gcaagcagat gcagatgata atattcttga ttactcggat
     5041 ggaatggaag aaatatttgg ttccctcaat tccctgaaac aagacatcga gcatatgaaa
     5101 tttccaatgg gtactcagac caatccagcc cgaacttgta aagacctgca actcagccat
     5161 cctgacttcc cagatggtga atattggatt gatcctaacc aaggttgctc aggagattcc
     5221 ttcaaagttt actgtaattt cacatctggt ggtgagactt gcatttatcc agacaaaaaa
     5281 tctgagggag taagaatttc atcatggcca aaggagaaac caggaagttg gtttagtgaa
     5341 tttaagaggg gaaaactgct ttcatactta gatgttgaag gaaattccat caatatggtg
     5401 caaatgacat tcctgaaact tctgactgcc tctgctcggc aaaatttcac ctaccactgt
     5461 catcagtcag cagcctggta tgatgtgtca tcaggaagtt atgacaaagc acttcgcttc
     5521 ctgggatcaa atgatgagga gatgtcctat gacaataatc cttttatcaa aacactgtat
     5581 gatggttgta cgtccagaaa aggctatgaa aagactgtca ttgaaatcaa tacaccaaaa
     5641 attgatcaag tacctattgt tgatgtcatg atcaatgact ttggtgatca gaatcagaag
     5701 ttcggatttg aagttggtcc tgtttgtttt cttggctaag attaagacaa agaacatatc
     5761 aaatcaacag aaaatatacc ttggtgccac caacccattt tgtgccacat gcaagttttg
     5821 aataaggatg gtatagaaaa caacgctgca tatacaggta ccatttagga aataccgatg
     5881 cctttgtggg ggcagaatca catggcaaaa gctttgaaaa tcataaagat ataagttggt
     5941 gtggctaaga tggaaacagg gctgattctt gattcccaat tctcaactct ccttttccta
     6001 tttgaatttc tttggtgctg tagaaaacaa aaaaagaaaa atatatattc ataaaaaata
     6061 tggtgctcat tctcatccat ccaggatgta ctaaaacagt gtgtttaata aattgtaatt
     6121 attttgtgta cagttctata ctgttatctg tgtccatttc caaaacttgc acgtgtccct
     6181 gaattccatc tgactctaat tttatgagaa ttgcagaact ctgatggcaa taaatatatg
     6241 tattatgaaa aaataaagtt gtaatttctg atgactctaa gtccctttct ttggttaata
     6301 ataaaatgcc tttgtatat
//



Revised: July 5, 2002.
 
 


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1: NM_002213. Homo sapiens inte...[gi:20127445] Links  


LOCUS       ITGB5                   3401 bp    mRNA    linear   PRI 14-MAY-2002
DEFINITION  Homo sapiens integrin, beta 5 (ITGB5), mRNA.
ACCESSION   NM_002213
VERSION     NM_002213.2  GI:20127445
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3401)
  AUTHORS   Strausberg,R.
  TITLE     Homo sapiens integrin, beta 5 (ITGB5), mRNA
  JOURNAL   Unpublished (2001)
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC006541.1.
            On Apr 10, 2002 this sequence version replaced gi:4504772.
FEATURES             Location/Qualifiers
     source          1..3401
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.3"
                     /clone="MGC:2338 IMAGE:2958666"
                     /tissue_type="Kidney, renal cell adenocarcinoma"
                     /clone_lib="NIH_MGC_14"
                     /lab_host="DH10B-R"
                     /note="Vector: pOTB7"
     gene            1..3401
                     /gene="ITGB5"
                     /db_xref="LocusID:3693"
                     /db_xref="MIM:147561"
     CDS             307..2706
                     /gene="ITGB5"
                     /codon_start=1
                     /product="integrin, beta 5"
                     /protein_id="NP_002204.2"
                     /db_xref="GI:20127446"
                     /db_xref="LocusID:3693"
                     /db_xref="MIM:147561"
                     /translation="MPRAPAPLYACLLGLCALLPRLAGLNICTSGSATSCEECLLIHP
                     KCAWCSKEDFGSPRSITSRCDLRANLVKNGCGGEIESPASSFHVLRSLPLSSKGSGSA
                     GWDVIQMTPQEIAVNLRPGDKTTFQLQVRQVEDYPVDLYYLMDLSLSMKDDLDNIRSL
                     GTKLAEEMRKLTSNFRLGFGSFVDKDISPFSYTAPRYQTNPCIGYKLFPNCVPSFGFR
                     HLLPLTDRVDSFNEEVRKQRVSRNRDAPEGGFDAVLQAAVCKEKIGWRKDALHLLVFT
                     TDDVPHIALDGKLGGLVQPHDGQCHLNEANEYTASNQMDYPSLALLGEKLAENNINLI
                     FAVTKNHYMLYKNFTALIPGTTVEILDGDSKNIIQLIINAYNSIRSKVELSVWDQPED
                     LNLFFTATCQDGVSYPGQRKCEGLKIGDTASFEVSLEARSCPSRHTEHVFALRPVGFR
                     DSLEVGVTYNCTCGCSVGLEPNSARCNGSGTYVCGLCECSPGYLGTRCECQDGENQSV
                     YQNLCREAEGKPLCSGRGDCSCNQCSCFESEFGKIYGPFCECDNFSCARNKGVLCSGH
                     GECHCGECKCHAGYIGDNCNCSTDISTCRGRDGQICSERGHCLCGQCQCTEPGAFGEM
                     CEKCPTCPDACSTKRDCVECLLLHSGKPDNQTCHSLCRDEVITWVDTIVKDDQEAVLC
                     FYKTAKDCVMMFTYVELPSGKSNLTVLREPECGNTPNAMTILLAVVGSILLVGLALLA
                     IWKLLVTIHDRREFAKFQSERSRARYEMASNPLYRKPISTHTVDFTFNKFNKSYNGTV
                     D"
     misc_feature    409..1695
                     /gene="ITGB5"
                     /note="INB; Region: Integrin beta subunits (N-terminal
                     portion of extracellular region)"
                     /db_xref="CDD:smart00187"
     misc_feature    409..1695
                     /gene="ITGB5"
                     /note="integrin_B; Region: Integrins, beta chain"
                     /db_xref="CDD:pfam00362"
     variation       883
                     /gene="ITGB5"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1064177"
     variation       complement(1725)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2291088"
     variation       complement(1736)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2291087"
     variation       complement(1839)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2291086"
     variation       complement(1920)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2291085"
     variation       1926
                     /gene="ITGB5"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1803825"
     variation       2954
                     /gene="ITGB5"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2674"
     variation       3063
                     /gene="ITGB5"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:2675"
     variation       3069
                     /gene="ITGB5"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1056710"
     variation       3187
                     /gene="ITGB5"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1803826"
     variation       3189
                     /gene="ITGB5"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2676"
     variation       3362
                     /gene="ITGB5"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1134990"
     variation       3362
                     /gene="ITGB5"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3197408"
BASE COUNT      764 a    928 c   1000 g    709 t
ORIGIN      
        1 ggcacgaggg cggagccagc ccctccccta cccggagcag cccgctgggg ccgtcccgag
       61 cggcgacaca ctaggagtcc cggccggcca gccagggcag ccgcggtccc gggactcggc
      121 cgtgagtgct gcgggacgga tggtggcggc ggggcgcggg ccagcgcggg cgccgtgagc
      181 cggagctgcg cgcggggcat gcggctgcgg cccccggccc tcggcccccg cgctccggcc
      241 ccagccccgg ccgccggccc ccgcggagtg cagcgaccgc gccgccgctg agggaggcgc
      301 cccaccatgc cgcgggcccc ggcgccgctg tacgcctgcc tcctggggct ctgcgcgctc
      361 ctgccccggc tcgcaggtct caacatatgc actagtggaa gtgccacctc atgtgaagaa
      421 tgtctgctaa tccacccaaa atgtgcctgg tgctccaaag aggacttcgg aagcccacgg
      481 tccatcacct ctcggtgtga tctgagggca aaccttgtca aaaatggctg tggaggtgag
      541 atagagagcc cagccagcag cttccatgtc ctgaggagcc tgcccctcag cagcaagggt
      601 tcgggctctg caggctggga cgtcattcag atgacaccac aggagattgc cgtgaacctc
      661 cggcccggtg acaagaccac cttccagcta caggttcgcc aggtggagga ctatcctgtg
      721 gacctgtact acctgatgga cctctccctg tccatgaagg atgacttgga caatatccgg
      781 agcctgggca ccaaactcgc ggaggagatg aggaagctca ccagcaactt ccggttggga
      841 tttgggtctt ttgttgataa ggacatctct cctttctcct acacggcacc gaggtaccag
      901 accaatccgt gcattggtta caagttgttt ccaaattgcg tcccctcctt tgggttccgc
      961 catctgctgc ctctcacaga cagagtggac agcttcaatg aggaagttcg gaaacagagg
     1021 gtgtcccgga accgagatgc ccctgagggg ggctttgatg cagtactcca ggcagccgtc
     1081 tgcaaggaga agattggctg gcgaaaggat gcactgcatt tgctggtgtt cacaacagat
     1141 gatgtgcccc acatcgcatt ggatggaaaa ttgggaggcc tggtgcagcc acacgatggc
     1201 cagtgccacc tgaacgaggc caacgagtac actgcatcca accagatgga ctatccatcc
     1261 cttgccttgc ttggagagaa attggcagag aacaacatca acctcatctt tgcagtgaca
     1321 aaaaaccatt atatgctgta caagaatttt acagccctga tacctggaac aacggtggag
     1381 attttagatg gagactccaa aaatattatt caactgatta ttaatgcata caatagtatc
     1441 cggtctaaag tggagttgtc agtctgggat cagcctgagg atcttaatct cttctttact
     1501 gctacctgcc aagatggggt atcctatcct ggtcagagga agtgtgaggg tctgaagatt
     1561 ggggacacgg catcttttga agtatcattg gaggcccgaa gctgtcccag cagacacacg
     1621 gagcatgtgt ttgccctgcg gccggtggga ttccgggaca gcctggaggt gggggtcacc
     1681 tacaactgca cgtgcggctg cagcgtgggg ctggaaccca acagtgccag gtgcaacggg
     1741 agcgggacct atgtctgcgg cctgtgtgag tgcagccccg gctacctggg caccaggtgc
     1801 gagtgccagg atggggagaa ccagagcgtg taccagaacc tgtgccggga ggcagagggc
     1861 aagccactgt gcagcgggcg tggggactgc agctgcaacc agtgctcctg cttcgagagc
     1921 gagttcggca agatctatgg gcctttctgt gagtgcgaca acttctcctg tgccaggaac
     1981 aagggagtcc tctgctcagg ccatggcgag tgtcactgcg gggaatgcaa gtgccatgca
     2041 ggttacatcg gggacaactg taactgctcg acagacatca gcacatgccg gggcagagat
     2101 ggccagatct gcagcgagcg tgggcactgt ctctgtgggc agtgccaatg cacggagccg
     2161 ggggcctttg gggagatgtg tgagaagtgc cccacctgcc cggatgcatg cagcaccaag
     2221 agagattgcg tcgagtgcct gctgctccac tctgggaaac ctgacaacca gacctgccac
     2281 agcctatgca gggatgaggt gatcacatgg gtggacacca tcgtgaaaga tgaccaggag
     2341 gctgtgctat gtttctacaa aaccgccaag gactgcgtca tgatgttcac ctatgtggag
     2401 ctccccagtg ggaagtccaa cctgaccgtc ctcagggagc cagagtgtgg aaacaccccc
     2461 aacgccatga ccatcctcct ggctgtggtc ggtagcatcc tccttgttgg gcttgcactc
     2521 ctggctatct ggaagctgct tgtcaccatc cacgaccgga gggagtttgc aaagtttcag
     2581 agcgagcgat ccagggcccg ctatgaaatg gcttcaaatc cattatacag aaagcctatc
     2641 tccacgcaca ctgtggactt caccttcaac aagttcaaca aatcctacaa tggcactgtg
     2701 gactgatgtt tccttctccg aggggctgga gcggggatct gatgaaaagg tcagactgaa
     2761 acgccttgca cggctgctcg gcttgatcac agctccctag gtaggcacca cagagaagac
     2821 cttctagtga gcctgggcca ggagcccaca gtgcctgtac aggaaggtgc ctggccatgt
     2881 cacctggctg ctaggccaga gccatgccag gctgcgtccc tccgagcttg ggataaagca
     2941 aggggacctt ggcactctca gctttccctg ccacatccag cttgttgtcc caatgaaata
     3001 ctgagatgct gggctgtctc tcccttccag gaatgctggg cccccagcct ggccagacaa
     3061 gacgactgtc aggaagggtc ggagtctgta aaaccagcat acagtttggc ttttttcaca
     3121 ttgatcattt ttatatgaaa taaaaagatc ctgcatttat ggtgtagttc tgagtcctga
     3181 gacttttccg cgtgatggct atgccttgca cacaggtgtt ggtgatgggg ctgttgagat
     3241 gcctgttgaa ggtacatcgt ttgcaaatgt cagtttcctc tcctgtccgt gtttgtttag
     3301 tacttttata atgaaaagaa acaagattgt ttgggattgg aagtaaagat taaaaccaaa
     3361 agaatttgtg tttgtctgat aaaaaaaaaa aaaaaaaaaa a
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

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&&&&&&&


    
 
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   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_000393. Homo sapiens coll...[gi:16554580] Links  


LOCUS       COL5A2                  6217 bp    mRNA    linear   PRI 31-OCT-2001
DEFINITION  Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.
ACCESSION   NM_000393
VERSION     NM_000393.2  GI:16554580
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6217)
  AUTHORS   Myers,J.C., Loidl,H.R., Seyer,J.M. and Dion,A.S.
  TITLE     Complete primary structure of the human alpha 2 type V procollagen
            COOH-terminal propeptide
  JOURNAL   J. Biol. Chem. 260 (20), 11216-11222 (1985)
  MEDLINE   85289337
   PUBMED   2411731
REFERENCE   2  (bases 1 to 6217)
  AUTHORS   Weil,D., Bernard,M., Gargano,S. and Ramirez,F.
  TITLE     The pro alpha 2(V) collagen gene is evolutionarily related to the
            major fibrillar-forming collagens
  JOURNAL   Nucleic Acids Res. 15 (1), 181-198 (1987)
  MEDLINE   87146331
   PUBMED   3029669
REFERENCE   3  (bases 1 to 6217)
  AUTHORS   Woodbury,D., Benson-Chanda,V. and Ramirez,F.
  TITLE     Amino-terminal propeptide of human pro-alpha 2(V) collagen conforms
            to the structural criteria of a fibrillar procollagen molecule
  JOURNAL   J. Biol. Chem. 264 (5), 2735-2738 (1989)
  MEDLINE   89123368
   PUBMED   2914927
REFERENCE   4  (bases 1 to 6217)
  AUTHORS   Greenspan,D.S., Lee,S.T., Lee,B.S. and Hoffman,G.G.
  TITLE     Homology between alpha 2(V) and alpha 1(III) collagen promoters and
            evidence for negatively acting elements in the alpha 2(V) first
            intron and 5' flanking sequences
  JOURNAL   Gene Expr. 1 (1), 29-39 (1991)
  MEDLINE   92314691
   PUBMED   1820205
REFERENCE   5  (bases 1 to 6217)
  AUTHORS   Michalickova,K., Susic,M., Willing,M.C., Wenstrup,R.J. and
            Cole,W.G.
  TITLE     Mutations of the alpha2(V) chain of type V collagen impair matrix
            assembly and produce ehlers-danlos syndrome type I
  JOURNAL   Hum. Mol. Genet. 7 (2), 249-255 (1998)
  MEDLINE   98087576
   PUBMED   9425231
REFERENCE   6  (bases 1 to 6217)
  AUTHORS   Valkkila,M., Melkoniemi,M., Kvist,L., Kuivaniemi,H., Tromp,G. and
            Ala-Kokko,L.
  TITLE     Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2
            has evolved differently than the other minor fibrillar collagen
            genes
  JOURNAL   Matrix Biol. 20 (5-6), 357-366 (2001)
  MEDLINE   21451029
   PUBMED   11566270
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Y14690.1, BC015705.1 and
            M58529.1.
            On Oct 31, 2001 this sequence version replaced gi:4502958.
            Summary: This gene encodes an alpha chain for one of the low
            abundance fibrillar collagens. Fibrillar collagen molecules are
            trimers that can be composed of one or more types of alpha chains.
            Type V collagen is found in tissues containing type I collagen and
            appears to regulate the assembly of heterotypic fibers composed of
            both type I and type V collagen. This gene product is closely
            related to type XI collagen and it is possible that the collagen
            chains of types V and XI constitute a single collagen type with
            tissue-specific chain combinations. Mutations in this gene are
            associated with Ehlers-Danlos syndrome, types I and II. Two
            transcripts that differ in the length of the 3'UTR due to the use
            of alternative polyadenylation signals have been identified for
            this gene.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6217
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14-q32"
     gene            1..6217
                     /gene="COL5A2"
                     /db_xref="LocusID:1290"
                     /db_xref="MIM:120190"
     CDS             158..4648
                     /gene="COL5A2"
                     /note="collagen V, alpha-2 polypeptide; AB collagen;
                     collagen, fetal membrane, A polypeptide"
                     /codon_start=1
                     /product="alpha 2 type V collagen preproprotein"
                     /protein_id="NP_000384.1"
                     /db_xref="GI:4502959"
                     /db_xref="LocusID:1290"
                     /db_xref="MIM:120190"
                     /db_xref="LocusID:1290"
                     /db_xref="MIM:120190"
                     /translation="MMANWAEARPLLILIVLLGQFVSIKAQEEDEDEGYGEEIACTQN
                     GQMYLNRDIWKPAPCQICVCDNGAILCDKIECQDVLDCADPVTPPGECCPVCSQTPGG
                     GNTNFGRGRKGQKGEPGLVPVVTGIRGRPGPAGPPGSQGPRGERGPKGRPGPRGPQGI
                     DGEPGVPGQPGAPGPPGHPSHPGPDGLSRPFSAQMAGLDEKSGLGSQVGLMPGSVGPV
                     GPRGPQGLQGQQGGAGPTGPPGEPGDPGPMGPIGSRGPEGPPGKPGEDGEPGRNGNPG
                     EVGFAGSPGARGFPGAPGLPGLKGHRGHKGLEGPKGEVGAPGSKGEAGPTGPMGAMGP
                     LGPRGMPGERGRLGPQGAPGQRGAHGMPGKPGPMGPLGIPGSSGFPGNPGMKGEAGPT
                     GARGPEGPQGQRGETGPPGPVGSPGLPGAIGTDGTPGPKGPTGSPGTSGPPGSAGPPG
                     SPGPQGSTGPQGNSGLPGDPGFKGEAGPKGEPGPHGIQGPIGPPGEEGKRGPRGDPGT
                     LGPPGPVGERGAPGNRGFPGSDGLPGPKGAQGERGPVGSSGPKGSQGDPGRPGEPGLP
                     GARGLTGNPGVQGPEGKLGPLGAPGEDGRPGPPGSIGIKGQPGTMGLPGPKGSNGDPG
                     KPGEAGNPGVPGQRGAPGKDGKVGPYGPPGPPGLRGERGEQGPPGPTGFQGHPGPPGP
                     PGEGGKPGDQGVPGGPGAVGPLGPRGERGNPGERGEPGITGLPGEKGMAGGHGPDGPK
                     GSPGPSGTPGDTGPPGLQGMPGERGIAGTPGPKGDRGGIGEKGAEGTAGNDGAGGLPG
                     PLGPPGPAGLLGEKGEPGPRGLVGPPGSRGNPGSRGENGPTGAVGFAGPQGSDGQPGV
                     KGEPGEPGQKGDAGSPGPQGLAGSPGPHGPNGVPGLKGGRGTQGPPGATGFPGSAGRV
                     GPPGPAGAPGPAGPLGEPGKEGPPGPRGDPGSHGRVGVRGPAGPPGGPGDKGDPGEDG
                     QPGPDGPPGPAGTTGQRGIVGMPGQRGERGMPGLPGPAGTPGKVGPTGATGDKGPPGP
                     VGPPGSNGPVGEPGPEGPAGNDGTPGRDGAVGERGDRGDPGPAGLPGSQGAPGTPGPV
                     GAPGDAGQRGDPGSRGPIGHLGRAGKRGLPGPQGPRGDKGDHGDRGDRGQKGHRGFTG
                     LQGLPGPPGPNGEQGSAGIPGPFGPRGPPGPVGPSGKEGNPGPLGPLGPPGVRGSVGE
                     AGPEGPPGEPGPPGPPGPPGHLTAALGDIMGHYDESMPDPLPEFTEDQAAPDDKNKTD
                     PGVHATLKSLSSQIETMRSPDGSKKHPARTCDDLKLCHSAKQSGEYWIDPNQGSVEDA
                     IKVYCNMETGETCISANPSSVPRKTWWASKSPDNKPVWYGLDMNRGSQFAYGDHQSPN
                     TAITQMTFLRLLSKEASQNITYICKNSVGYMDDQAKNLKKAVVLKGANDLDIKAEGNI
                     RFRYIVLQDTCSKRNGNVGKTVFEYRTQNVARLPIIDLAPVDVGGTDQEFGVEIGPVC
                     FV"
     sig_peptide     158..235
                     /gene="COL5A2"
     mat_peptide     236..3835
                     /gene="COL5A2"
                     /product="alpha 2 type V collagen"
     misc_feature    278..445
                     /gene="COL5A2"
                     /note="VWC; Region: von Willebrand factor (vWF) type C
                     domain"
                     /db_xref="CDD:smart00214"
     misc_feature    278..445
                     /gene="COL5A2"
                     /note="vwc; Region: von Willebrand factor type C domain.
                     The high cutoff was used to prevent overlap with
                     pfam00094"
                     /db_xref="CDD:pfam00093"
     misc_feature    1685..1861
                     /gene="COL5A2"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies). Members of this family belong to the collagen
                     superfamily. Collagens are generally extracellular
                     structural proteins involved in formation of connective
                     tissue structure. The alignment contains 20 copies of the
                     G-X-Y repeat that forms a triple helix. The first position
                     of the repeat is G"
                     /db_xref="CDD:pfam01391"
     misc_feature    1685..1855
                     /gene="COL5A2"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies). Members of this family belong to the collagen
                     superfamily. Collagens are generally extracellular
                     structural proteins involved in formation of connective
                     tissue structure. The alignment contains 20 copies of the
                     G-X-Y repeat that forms a triple helix. The first position
                     of the repeat is G"
                     /db_xref="CDD:pfam01391"
     misc_feature    1784..1957
                     /gene="COL5A2"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies). Members of this family belong to the collagen
                     superfamily. Collagens are generally extracellular
                     structural proteins involved in formation of connective
                     tissue structure. The alignment contains 20 copies of the
                     G-X-Y repeat that forms a triple helix. The first position
                     of the repeat is G"
                     /db_xref="CDD:pfam01391"
     misc_feature    2684..2863
                     /gene="COL5A2"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies). Members of this family belong to the collagen
                     superfamily. Collagens are generally extracellular
                     structural proteins involved in formation of connective
                     tissue structure. The alignment contains 20 copies of the
                     G-X-Y repeat that forms a triple helix. The first position
                     of the repeat is G"
                     /db_xref="CDD:pfam01391"
     misc_feature    3941..4642
                     /gene="COL5A2"
                     /note="COLFI; Region: Fibrillar collagens C-terminal
                     domain"
                     /db_xref="CDD:smart00038"
     misc_feature    3992..4642
                     /gene="COL5A2"
                     /note="COLFI; Region: Fibrillar collagen C-terminal
                     domain. Found at C-termini of fibrillar collagens:
                     Ephydatia muelleri procollagen EMF1 alpha"
                     /db_xref="CDD:pfam01410"
     misc_feature    236..4648
                     /gene="COL5A2"
                     /note="alpha 2 type V collagen proprotein"
     variation       1468
                     /gene="COL5A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2229495"
     variation       1986
                     /gene="COL5A2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1131425"
     variation       2016
                     /gene="COL5A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1131426"
     variation       2051
                     /gene="COL5A2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1131427"
     variation       2068
                     /gene="COL5A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1131428"
     variation       4117
                     /gene="COL5A2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1131429"
     variation       4896
                     /gene="COL5A2"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:15930"
     polyA_signal    4931..4936
                     /gene="COL5A2"
     polyA_site      4937
                     /gene="COL5A2"
     variation       4946
                     /gene="COL5A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3191510"
     variation       4946
                     /gene="COL5A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:7586"
     variation       5040
                     /gene="COL5A2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1131518"
     variation       5040
                     /gene="COL5A2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3191516"
     variation       complement(5812)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:13914"
     variation       complement(6047)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:12886"
     variation       complement(6049)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:11186"
     variation       6130
                     /gene="COL5A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1140641"
     variation       6132
                     /gene="COL5A2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1140642"
     polyA_signal    6178..6183
                     /gene="COL5A2"
     polyA_site      6202
                     /gene="COL5A2"
BASE COUNT     1647 a   1404 c   1702 g   1464 t
ORIGIN      
        1 cgcagactgt gctggagctg gtgctgaaaa agggggtttg cagaggctgc cctggggctg
       61 gtgctgaaag aagagcccac agctgacttc atggtgctac aataacctca gaatctactt
      121 ttcactctca ggagaaccca cagtctaata tttagacatg atggcaaact gggcggaagc
      181 aagacctctc ctcattctta ttgttttatt agggcaattt gtctcaataa aagcccagga
      241 agaagacgag gatgaaggat atggtgaaga aatagcctgc actcagaatg gccagatgta
      301 cttaaacagg gacatttgga aacctgcccc ttgtcagatc tgtgtctgtg acaatggagc
      361 cattctctgt gacaagatag aatgccagga tgtgctggac tgtgccgacc ctgtaacgcc
      421 ccctggggaa tgctgtcctg tctgttcaca aacacctgga ggtggcaata caaattttgg
      481 tagaggaaga aagggacaaa agggagaacc aggattagtg cctgttgtaa caggcatacg
      541 tggtcgtcca ggaccggcag gacctccagg atcacaggga ccaagaggag agcgagggcc
      601 aaaaggaaga cctggccctc gtggacctca gggaattgat ggagaaccag gtgttcctgg
      661 tcaacctggt gctccaggac ctcctggaca tccgtcccac ccaggacccg atggcttgag
      721 caggccgttt tcagctcaaa tggctgggtt ggatgaaaaa tctggacttg ggagtcaagt
      781 aggactaatg cctggctctg tgggtcctgt tggcccaagg ggaccacagg gtttacaagg
      841 acagcaaggt ggtgcaggac ctacaggacc tcctggtgaa cctggtgatc ctggaccaat
      901 gggtccgatt ggttcacgtg gaccagaggg ccctcctggt aaacctgggg aagatggtga
      961 acctggcaga aatggaaatc ctggtgaagt gggatttgca ggatctccgg gagctcgtgg
     1021 atttcctggg gctcctggtc ttccaggtct gaagggtcac cgaggacaca aaggtcttga
     1081 aggccctaaa ggtgaagttg gagcacctgg ttccaagggt gaagctggcc ccactggtcc
     1141 aatgggtgcc atgggtcctc tgggtccgag gggaatgcca ggagagagag ggagacttgg
     1201 gccacagggt gctcctggac aacgaggtgc acatggtatg cctggaaaac ctggaccaat
     1261 gggtcctctt gggataccag gctcttctgg ttttccagga aatcctggaa tgaagggaga
     1321 agcaggtcct acaggggcgc gaggccctga aggtcctcag gggcagagag gtgaaactgg
     1381 gcccccaggt ccagttggct ctccaggtct tcctggtgca ataggaactg atggtactcc
     1441 tggtcccaaa ggcccaacgg gctctccggg tacctctggt cctcctggct cagcagggcc
     1501 tcctggatct ccaggacctc agggtagcac tggtcctcag gggaattcgg gccttccggg
     1561 tgatccaggt ttcaaaggag aagctggccc aaaaggggaa ccagggccac atggtattca
     1621 gggtccgata ggcccacccg gtgaagaagg caaaagaggt cccagaggtg acccaggaac
     1681 acttggtcct ccagggccag tgggagaaag gggtgctcct ggcaatcgtg gttttccagg
     1741 ctctgatggt ttacctgggc caaagggtgc tcaaggagaa cggggtcctg taggttcttc
     1801 aggacccaaa ggaagccagg gggatccagg acgtccaggg gaacctgggc ttccaggtgc
     1861 tcggggtttg acaggaaatc ctggtgttca aggtcctgaa ggaaaacttg gacctttggg
     1921 tgcgccaggg gaagatggcc gtccaggtcc tccaggctcc ataggaatca aagggcagcc
     1981 cgggaccatg ggccttccag gccccaaagg tagcaatggt gaccctggga aacctggaga
     2041 agcaggaaat cctggagttc ctgggcaaag gggagctcct ggaaaagatg gtaaagttgg
     2101 tccttatggt cctcctgggc cgccgggtct acgtggtgaa agaggagaac aaggacctcc
     2161 agggcccaca ggttttcagg ggcatcctgg tcctccaggt cctcctggag aaggtggaaa
     2221 accaggtgat caaggtgttc ctggaggtcc cggagcagtt ggcccgttag gacctagagg
     2281 agaacgagga aatcctgggg aaagaggaga acctgggata actggactcc ctggtgagaa
     2341 gggaatggct ggaggacatg gtcctgatgg cccaaaaggc agtccaggtc catctgggac
     2401 ccctggagat acaggcccac caggtcttca aggtatgccg ggagaaagag gaattgcagg
     2461 aactcctggc cccaagggtg acagaggtgg cataggagaa aaaggtgctg aaggcacagc
     2521 tggaaatgat ggtgcaggag gtcttccagg tcctttgggc cctccaggtc cggcaggcct
     2581 actgggagaa aagggtgaac ctggtcctcg aggtttagtt ggtcctcctg gctcccgggg
     2641 caatcctggt tctcgaggtg aaaatgggcc aactggagct gttggttttg ccggacccca
     2701 ggggtctgac ggacagcctg gagtaaaagg tgaacctgga gagccaggac agaagggaga
     2761 tgctggttct cctggaccac aaggtttagc aggatcccct ggccctcatg gtcctaatgg
     2821 tgttcctgga ctaaaaggtg gtcgaggaac ccaaggtccg cctggtgcta caggatttcc
     2881 tggttctgcg ggcagagttg gacctccagg ccctgctgga gctccaggac ctgcgggacc
     2941 cctaggggaa cccgggaagg agggacctcc aggtcctcgt ggggaccctg gctctcatgg
     3001 gcgtgtggga gtccgaggac cagctggccc ccctggtggc ccaggagaca aaggggaccc
     3061 aggagaagat gggcaacctg gtccagatgg cccccctggt ccagctggaa cgaccgggca
     3121 gagaggaatt gttggcatgc ctgggcaacg tggagagaga ggcatgcccg gcctaccagg
     3181 cccagcggga acaccaggaa aagtaggacc aactggtgca acaggagata aaggtccacc
     3241 tggacctgtg gggcccccag gctccaatgg tcctgtaggg gaacctggac cagaaggtcc
     3301 agctggcaat gatggtaccc caggacggga tggtgctgtt ggagaacgtg gtgatcgtgg
     3361 agaccctggg cctgcaggtc tgccaggctc tcagggtgcc cctggaactc ctggccctgt
     3421 gggtgctcca ggagatgcag gacaaagagg agatccgggt tctcggggtc ctataggaca
     3481 cctgggtcga gctggaaaac gtggattacc tggaccccaa ggacctcgtg gtgacaaagg
     3541 tgatcatgga gaccgaggcg acagaggtca gaagggccac agaggcttta ctggtcttca
     3601 gggtcttcct ggccctcctg gtccaaatgg tgaacaagga agtgctggaa tccctggacc
     3661 atttggccca agaggtcctc caggcccagt tggtccttca ggtaaagaag gaaaccctgg
     3721 gccacttggg ccattgggac ctccaggtgt acgaggcagt gtaggagaag caggacctga
     3781 gggccctcct ggtgagcctg gcccacctgg ccctccgggt ccccctggcc accttacagc
     3841 tgctcttggg gatatcatgg ggcactatga tgaaagcatg ccagatccac ttcctgagtt
     3901 tactgaagat caggcggctc ctgatgacaa aaacaaaacg gacccagggg ttcatgctac
     3961 cctgaagtca ctcagtagtc agattgaaac catgcgcagc cccgatggct cgaaaaagca
     4021 cccagcccgc acgtgtgatg acctaaagct ttgccattcc gcaaagcaga gtggtgaata
     4081 ctggattgat cctaaccaag gatctgttga agatgccatc aaagtttact gcaacatgga
     4141 aacaggagaa acatgtattt cagcaaaccc atccagtgta ccacgtaaaa cctggtgggc
     4201 cagtaaatct cctgacaata aacctgtttg gtatggtctt gatatgaaca gagggtctca
     4261 gttcgcttat ggagaccacc aatcacctaa tacagccatt actcagatga cttttttgcg
     4321 ccttttatca aaagaagcct cccagaacat cacttacatc tgtaaaaaca gtgtaggata
     4381 catggacgat caagctaaga acctcaaaaa agctgtggtt ctcaaagggg caaatgactt
     4441 agatatcaaa gcagagggaa atattagatt ccggtatatc gttcttcaag acacttgctc
     4501 taagcggaat ggaaatgtgg gcaagactgt ctttgaatat agaacacaga atgtggcacg
     4561 cttgcccatc atagatcttg ctcctgtgga tgttggcggc acagaccagg aattcggcgt
     4621 tgaaattggg ccagtttgtt ttgtgtaaag taagccaaga cacatcgaca atgagcacca
     4681 ccatcaatga ccaccgccat tcacaagaac tttgactgtt tgaagttgat cctgagactc
     4741 ttgaagtaat ggctgatcct gcatcagcat tgtatatatg gtcttaagtg cctggcctcc
     4801 ttatccttca gaatatttat tttacttaca atcctcaagt tttaattgat tttaaatatt
     4861 tttcaataca acagtttagg tttaagatga ccaatgacaa tgaccacctt tgcagaaagt
     4921 aaactgattg aataaataaa tctccgtttt cttcaattta tttcagtgta atgaaaaagt
     4981 tgcttagtat ttatgaggaa attcttcttc ctggcaggta gcttaaagag tggggtatat
     5041 agagccacaa cacatgttta ttttgcttgg ctgcagttga aaaatagaaa ttagtgccct
     5101 tttgtgacct ctcattccaa gattgtcaat taaaaatgag tttaaaatgt ttaacttgtg
     5161 atcgagacct acatgcatgt cttgatattg tgtaactata atagagactc tttaaggaga
     5221 atcttaaaaa aaaaaaacgt ttctcactgt cttaaataga atttttaaat agtatatatt
     5281 cagtggcatt ttggagaaca aagtgaattt acttcgactt cttaaatttt tgtaaaagac
     5341 tataagttta gacatctttc tcattcaaat ttaaagatat ctttctcctc ttgatcaatc
     5401 tatcaatatt gatagaagtc acactagtat ataccattta atacatttac actttcttat
     5461 ttaagaagat attgaatgca aaataattga catatagaac tttacaaaca tatgtccaag
     5521 gactctaaat tgagactctt ccacatgtac aatctcatca tcctgaagcc tataatgaag
     5581 aaaaagatct agaaactgag ttgtggagct gactctaatc aaatgtgatg attggaatta
     5641 gaccatttgg cctttgaact ttcataggaa aaatgaccca acatttctta gcatgagcta
     5701 cctcatctct agaagctggg atggacttac tattcttgtt tatattttag atactgaaag
     5761 gtgctatgct tctgttatta ttccaagact ggagataggc agggctaaaa aggtattatt
     5821 atttttcctt taatgatggt gctaaaattc ttcctataaa attccttaaa aataaagatg
     5881 gtttaatcac taccattgtg aaaacataac tgttagactt cccgtttctg aaagaaagag
     5941 catcgttcca atgcttgttc actgttcctc tgtcatactg tatctggaat gctttgtaat
     6001 acttgcatgc ttcttagacc agaacatgta ggtccccttg tgtctcaata cttttttttt
     6061 cttaattgca tttgttggct ctattttaat ttttttcttt taaaataaac agctgggacc
     6121 atcccaaaag acaagccatg catacaactt tggtcatgta tctctgcaaa gcatcaaatt
     6181 aaatgcacgc ttttgtcatg tcaaaaaaaa aaaaaaa
//



Revised: July 5, 2002.
 
 


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1: NM_003480. Homo sapiens Micr...[gi:4505088] Links  


LOCUS       MAGP2                   1119 bp    mRNA    linear   PRI 01-NOV-2000
DEFINITION  Homo sapiens Microfibril-associated glycoprotein-2 (MAGP2), mRNA.
ACCESSION   NM_003480
VERSION     NM_003480.1  GI:4505088
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1119)
  AUTHORS   Gibson,M.A., Hatzinikolas,G., Kumaratilake,J.S., Sandberg,L.B.,
            Nicholl,J.K., Sutherland,G.R. and Cleary,E.G.
  TITLE     Further characterization of proteins associated with elastic fiber
            microfibrils including the molecular cloning of MAGP-2 (MP25)
  JOURNAL   J. Biol. Chem. 271 (2), 1096-1103 (1996)
  MEDLINE   96132851
   PUBMED   8557636
REFERENCE   2  (bases 1 to 1119)
  AUTHORS   Hatzinikolas,G. and Gibson,M.A.
  TITLE     The exon structure of the human MAGP-2 gene. Similarity with the
            MAGP-1 gene is confined to two exons encoding a cysteine-rich
            region
  JOURNAL   J. Biol. Chem. 273 (45), 29309-29314 (1998)
  MEDLINE   99009031
   PUBMED   9792630
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF084927.1.
            Summary: This gene encodes a 25-kD microfibril-associated
            glycoprotein which is rich in serine and threonine residues. It
            lacks proline-, glutamine-, and tyrosine-rich sequences and a
            hydrophobic carboxyl terminus, which are characteristics of the
            related MFAP2 (MAGP1) molecule, a 31-kDa microfibril-associated
            glycoprotein. The close similarity between these two proteins is
            confined to a central region of 60 amino acids where there is
            precise alignment of 7 cystein residues. The structural differences
            suggest that MAGP2 has some functions that are distinct from those
            of MFAP2.
            COMPLETENESS: complete on the 5' end.
FEATURES             Location/Qualifiers
     source          1..1119
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.1-p12.3"
     gene            1..1119
                     /gene="MAGP2"
                     /note="MP25"
                     /db_xref="LocusID:8076"
                     /db_xref="MIM:601103"
     CDS             214..735
                     /gene="MAGP2"
                     /codon_start=1
                     /product="Microfibril-associated glycoprotein-2"
                     /protein_id="NP_003471.1"
                     /db_xref="GI:4505089"
                     /db_xref="LocusID:8076"
                     /db_xref="MIM:601103"
                     /translation="MSLLGPKVLLFLAAFIITSDWIPLGVNSQRGDDVTQATPETFTE
                     DPNLVNDPATDETVLAVLADIAPSTDDLASLSEKNTTAECWDEKFTCTRLYSVHRPVK
                     QCIHQLCFTSLRRMYIVNKEICSRLVCKEHEAMKDELCRQMAGLPPRRLRRSNYFRLP
                     PCENVDLQRPNGL"
     variation       249
                     /gene="MAGP2"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1802863"
     variation       856
                     /gene="MAGP2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:14541"
BASE COUNT      316 a    260 c    225 g    318 t
ORIGIN      
        1 attccagcct cattgtaaca cacattctac gcctagcctg gctttcttgc tctccctcat
       61 ctcattgttt cagcggaggc caaatctgaa gtcctttcca gggagtggct ctgttcatct
      121 tattcgccag ccaaagtagg aacagcgtaa gaggagagag acacattcag cagccaaagg
      181 actcggtgga aagagcagaa caccatagac aatatgtcgc tcttgggacc caaggtgctg
      241 ctgtttcttg ctgcattcat catcacctct gactggatac ccctgggggt caatagtcaa
      301 cgaggagacg atgtgactca agcgactcca gaaacattca cagaagatcc taatctggtg
      361 aatgatcccg ctacagatga aacagttttg gctgttttgg ctgatattgc accttccaca
      421 gatgacttgg cctccctcag tgaaaaaaat accactgcag agtgctggga tgagaaattt
      481 acctgcacaa ggctctactc tgtgcatcgg ccggttaaac aatgcattca tcagttatgc
      541 ttcaccagtt tacgacgtat gtacatcgtc aacaaggaga tctgctctcg tcttgtctgt
      601 aaggaacacg aagctatgaa agatgagctt tgccgtcaga tggctggtct gccccctagg
      661 agactccgtc gctccaatta cttccgactt cctccctgtg aaaatgtgga tttgcagaga
      721 cccaatggtc tgtgatcatt gaaaaagagg aaagaagaaa aaatgtatgg gtgagaggaa
      781 ggaggatctc cttcttctcc aaccattgac agctaaccct tagacagtat ttcttaaacc
      841 aatccttttg caatgtccag cttttacccc tactctctac tttttcaccc aaactgataa
      901 catttatctc attttctagc acttaaaata caaagtctat attattgcat aattttgctg
      961 cttctcaata tcatagacac agtgaataga tgatgactat atggcttata tacaaacatt
     1021 ctatgtacaa tttcaaggga gactaaactt taggctaata atctttacta ttgaatctgt
     1081 ctgatataga tcttagggtt gaagaagcta tctttgtct
//



Revised: July 5, 2002.
 
 


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1: NM_004369. Homo sapiens coll...[gi:4758027] Links  


LOCUS       COL6A3                 10558 bp    mRNA    linear   PRI 29-NOV-2001
DEFINITION  Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript
            variant 1, mRNA.
ACCESSION   NM_004369
VERSION     NM_004369.1  GI:4758027
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 10558)
  AUTHORS   Weil,D., Mattei,M.G., Passage,E., N'Guyen,V.C., Pribula-Conway,D.,
            Mann,K., Deutzmann,R., Timpl,R. and Chu,M.L.
  TITLE     Cloning and chromosomal localization of human genes encoding the
            three chains of type VI collagen
  JOURNAL   Am. J. Hum. Genet. 42 (3), 435-445 (1988)
  MEDLINE   88161046
   PUBMED   3348212
REFERENCE   2  (bases 1 to 10558)
  AUTHORS   Chu,M.L., Zhang,R.Z., Pan,T.C., Stokes,D., Conway,D., Kuo,H.J.,
            Glanville,R., Mayer,U., Mann,K., Deutzmann,R. and Timpl,R.
  TITLE     Mosaic structure of globular domains in the human type VI collagen
            alpha 3 chain: similarity to von Willebrand factor, fibronectin,
            actin, salivary proteins and aprotinin type protease inhibitors
  JOURNAL   EMBO J. 9 (2), 385-393 (1990)
  MEDLINE   90151612
   PUBMED   1689238
REFERENCE   3  (bases 1 to 10558)
  AUTHORS   Zanussi,S., Doliana,R., Segat,D., Bonaldo,P. and Colombatti,A.
  TITLE     The human type VI collagen gene. mRNA and protein variants of the
            alpha 3 chain generated by alternative splicing of an additional
            5-end exon
  JOURNAL   J. Biol. Chem. 267 (33), 24082-24089 (1992)
  MEDLINE   93054780
   PUBMED   1339440
REFERENCE   4  (bases 1 to 10558)
  AUTHORS   Jobsis,G.J., Keizers,H., Vreijling,J.P., de Visser,M., Speer,M.C.,
            Wolterman,R.A., Baas,F. and Bolhuis,P.A.
  TITLE     Type VI collagen mutations in Bethlem myopathy, an autosomal
            dominant myopathy with contractures
  JOURNAL   Nat. Genet. 14 (1), 113-115 (1996)
  MEDLINE   96376983
   PUBMED   8782832
REFERENCE   5  (bases 1 to 10558)
  AUTHORS   Lamande,S.R., Sigalas,E., Pan,T.C., Chu,M.L., Dziadek,M., Timpl,R.
            and Bateman,J.F.
  TITLE     The role of the alpha3(VI) chain in collagen VI assembly.
            Expression of an alpha3(VI) chain lacking N-terminal modules N10-N7
            restores collagen VI assembly, secretion, and matrix deposition in
            an alpha3(VI)-deficient cell line
  JOURNAL   J. Biol. Chem. 273 (13), 7423-7430 (1998)
  MEDLINE   98184847
   PUBMED   9516440
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X52022.1.
            Summary: This gene encodes the alpha 3 chain, one of the three
            alpha chains of type VI collagen, a beaded filament collagen found
            in most connective tissues. The alpha 3 chain of type VI collagen
            is much larger than the alpha 1 and 2 chains. This difference in
            size is largely due to an increase in the number of subdomains,
            similar to von Willebrand Factor type A domains, found in the amino
            terminal globular domain of all the alpha chains. These domains
            have been shown to bind extracellular matrix proteins, an
            interaction that explains the importance of this collagen in
            organizing matrix components. Mutations in the type VI collagen
            genes are associated with Bethlem myopathy. In addition to the full
            length transcript, four transcript variants have been identified
            that encode proteins with N-terminal globular domains of varying
            sizes.
            Transcript Variant: This variant (1) encodes the full length
            isoform.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..10558
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37"
     gene            1..10558
                     /gene="COL6A3"
                     /db_xref="LocusID:1293"
                     /db_xref="MIM:120250"
     CDS             256..9786
                     /gene="COL6A3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     collagen VI, alpha-3 polypeptide"
                     /codon_start=1
                     /product="alpha 3 type VI collagen, isoform 1 precursor"
                     /protein_id="NP_004360.1"
                     /db_xref="GI:4758028"
                     /db_xref="LocusID:1293"
                     /db_xref="MIM:120250"
                     /db_xref="LocusID:1293"
                     /db_xref="MIM:120250"
                     /translation="MRKHRHLPLVAVFCLFLSGFPTTHAQQQQADVKNGAAADIIFLV
                     DSSWTIGEEHFQLVREFLYDVVKSLAVGENDFHFALVQFNGNPHTEFLLNTYRTKQEV
                     LSHISNMSYIGGTNQTGKGLEYIMQSHLTKAAGSRAGDGVPQVIVVLTDGHSKDGLAL
                     PSAELKSADVNVFAIGVEDADEGALKEIASEPLNMHMFNLENFTSLHDIVGNLVSCVH
                     SSVSPERAGDTETLKDITAQDSADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPIGT
                     QQIRVGVVQFSDEPRTMFSLDTYSTKAQVLGAVKALGFAGGELANIGLALDFVVENHF
                     TRAGGSRVEEGVPQVLVLISAGPSSDEIRYGVVALKQASVFSFGLGAQAASRAELQHI
                     ATDDNLVFTVPEFRSFGDLQEKLLPYIVGVAQRHIVLKPPTIVTQVIEVNKRDIVFLV
                     DGSSALGLANFNAIRDFIAKVIQRLEIGQDLIQVAVAQYADTVRPEFYFNTHPTKREV
                     ITAVRKMKPLDGSALYTGSALDFVRNNLFTSSAGYRAAEGIPKLLVLITGGKSLDEIS
                     QPAQELKRSSIMAFAIGNKGADQAELEEIAFDSSLVFIPAEFRAAPLQGMLPGLLAPL
                     RTLSGTPEVHSNKRDIIFLLDGSANVGKTNFPYVRDFVMNLVNSLDIGNDNIRVGLVQ
                     FSDTPVTEFSLNTYQTKSDILGHLRQLQLQGGSGLNTGSALSYVYANHFTEAGGSRIR
                     EHVPQLLLLLTAGQSEDSYLQAANALTRAGILTFCVGASQANKAELEQIAFNPSLVYL
                     MDDFSSLPALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILFLFDGSANLVGQFPVVR
                     DFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEILNLVKRMKIKTGKAL
                     NLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPASNLKQSGVVPFI
                     FQAKNADPAELEQIVLSPAFILAAESLPKIGDLHPQIVNLLKSVHNGAPAPVSGEKDV
                     VFLLDGSEGVRSGFPLLKEFVQRVVESLDVGQDRVRVAVVQYSDRTRPEFYLNSYMNK
                     QDVVNAVRQLTLLGGPTPNTGAALEFVLRNILVSSAGSRITEGVPQLLIVLTADRSGD
                     DVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQVISER
                     VTQLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVDYL
                     DVGFDTTRVAVIQFSDDPKAEFLLNAHSSKDEVQNAVQRLRPKGGRQINVGNALEYVS
                     RNIFKRPLGSRIEEGVPQFLVLISSGKSDDEVVVPAVELKQFGVAPFTIARNADQEEL
                     VKISLSPEYVFSVSTFRELPSLEQKLLTPITTLTSEQIQKLLASTRYPPPAVESDAAD
                     IVFLIDSSEGVRPDGFAHIRDFVSRIVRRLNIGPSKVRVGVVQFSNDVFPEFYLKTYR
                     SQAPVLDAIRRLRLRGGSPLNTGKALEFVARNLFVKSAGSRIEDGVPQHLVLVLGGKS
                     QDDVSRFAQVIRSSGIVSLGVGDRNIDRTELQTITNDPRLVFTVREFRELPNIEERIM
                     NSFGPSAATPAPPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDT
                     VYEDGDSIQVGLVQYNSDPTDEFFLKDFSTKRQIIDAINKVVYKGGRHANTKVGLEHL
                     RVNHFVPEAGSRLDQRVPQIAFVITGGKSVEDAQDVSLALTQRGVKVFAVGVRNIDSE
                     EVGKIASNSATAFRVGNVQELSELSEQVLETLHDAMHETLCPGVTDAAKACNLDVILG
                     FDGSRDQNVFVAQKGFESKVDAILNRISQMHRVSCSGGRSPTVRVSVVANTPSGPVEA
                     FDFDEYQPEMLEKFRNMRSQHPYVLTEDTLKVYLNKFRQSSPDSVKVVIHFTDGADGD
                     LADLHRASENLRQEGVRALILVGLERVVNLERLMHLEFGRGFMYDRPLRLNLLDLDYE
                     LAEQLDNIAEKACCGVPCKCSGQRGDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERG
                     PPGVNGTQGFQGCPGQRGVKGSRGFPGEKGEVGEIGLDGLDGEDGDKGLPGSSGEKGN
                     PGRRGDKGPRGEKGERGDVGIRGDPGNPGQDSQERGPKGETGDLGPMGVPGRDGVPGG
                     PGETGKNGGFGRRGPPGAKGNKGGPGQPGFEGEQGTRGAQGPAGPAGPPGLIGEQGIS
                     GPRGSGGARGAPGERGRTGPLGRKGEPGEPGPKGGIGNPGPRGETGDDGRDGVGSEGR
                     RGKKGERGFPGYPGPKGNPGEPGLNGTTGPKGIRGRRGNSGPPGIVGQKGRPGYPGPA
                     GPRGNRGDSIDQCALIQSIKDKCPCCYGPLECPVFPTELAFALDTSEGVNQDTFGRMR
                     DVVLSIVNVLTIAESNCPTGARVAVVTYNNEVTTEIRFADSKRKSVLLDKIKNLQVAL
                     TSKQQSLETAMSFVARNTFKRVRNGFLMRKVAVFFSNTPTRASPQLREAVLKLSDAGI
                     TPLFLTRQEDRQLINALQINNTAVGHALVLPAGRDLTDFLENVLTCHVCLDICNIDPS
                     CGFGSWRPSFRDRRAAGSDVDIDMAFILDSAETTTLFQFNEMKKYIAYLVRQLDMSPD
                     PKASQHFARVAVVQHAPSESVDNASMPPVKVEFSLTDYGSKEKLVDFLSRGMTQLQGT
                     RALGSAIEYTIENVFESAPNPRDLKIVVLMLTGEVPEQQLEEAQRVILQAKCKGYFFV
                     VLGIGRKVNIKEVYTFASEPNDVFFKLVDKSTELNEEPLMRFGRLLPSFVSSENAFYL
                     SPDIRKQCDWFQGDQPTKNLVKFGHKQVNVPNNVTSSPTSNPVTTTKPVTTTKPVTTT
                     TKPVTTTTKPVTIINQPSVKPAAAKPAPAKPVAAKPVATKTATVRPPVAVKPATAAKP
                     VAAKPAAVRPPAAAAKPVATKPEVPRPQAAKPAATKPATTKPVVKMLREVQVFEITEN
                     SAKLHWERPEPPGPYFYDLTVTSAHDQSLVLKQNLTVTDRVIGGLLAGQTYHVAVVCY
                     LRSQVRATYHGSFSTKKSQPPPPQPARSASSSTINLMVSTEPLALTETDICKLPKDEG
                     TCRDFILKWYYDPNTKSCARFWYGGCGGNENKFGSQKECEKVCAPVLAKPGVISVMGT
                     "
     sig_peptide     256..330
                     /gene="COL6A3"
     mat_peptide     331..9783
                     /gene="COL6A3"
                     /product="alpha 3 type VI collagen, isoform 1"
     misc_feature    367..876
                     /gene="COL6A3"
                     /note="VWA; Region: von Willebrand factor (vWF) type A
                     domain"
                     /db_xref="CDD:smart00327"
     misc_feature    370..894
                     /gene="COL6A3"
                     /note="vwa; Region: von Willebrand factor type A domain"
                     /db_xref="CDD:pfam00092"
     misc_feature    976..1503
                     /gene="COL6A3"
                     /note="VWA; Region: von Willebrand factor (vWF) type A
                     domain"
                     /db_xref="CDD:smart00327"
     misc_feature    979..1500
                     /gene="COL6A3"
                     /note="vwa; Region: von Willebrand factor type A domain"
                     /db_xref="CDD:pfam00092"
     misc_feature    1582..2082
                     /gene="COL6A3"
                     /note="VWA; Region: von Willebrand factor (vWF) type A
                     domain"
                     /db_xref="CDD:smart00327"
     misc_feature    1588..2091
                     /gene="COL6A3"
                     /note="vwa; Region: von Willebrand factor type A domain"
                     /db_xref="CDD:pfam00092"
     misc_feature    2164..2667
                     /gene="COL6A3"
                     /note="VWA; Region: von Willebrand factor (vWF) type A
                     domain"
                     /db_xref="CDD:smart00327"
     misc_feature    2170..2667
                     /gene="COL6A3"
                     /note="vwa; Region: von Willebrand factor type A domain"
                     /db_xref="CDD:pfam00092"
     misc_feature    2758..3285
                     /gene="COL6A3"
                     /note="VWA; Region: von Willebrand factor (vWF) type A
                     domain"
                     /db_xref="CDD:smart00327"
     misc_feature    2764..3225
                     /gene="COL6A3"
                     /note="vwa; Region: von Willebrand factor type A domain"
                     /db_xref="CDD:pfam00092"
     misc_feature    3334..3837
                     /gene="COL6A3"
                     /note="VWA; Region: von Willebrand factor (vWF) type A
                     domain"
                     /db_xref="CDD:smart00327"
     misc_feature    3340..3852
                     /gene="COL6A3"
                     /note="vwa; Region: von Willebrand factor type A domain"
                     /db_xref="CDD:pfam00092"
     misc_feature    3946..4473
                     /gene="COL6A3"
                     /note="VWA; Region: von Willebrand factor (vWF) type A
                     domain"
                     /db_xref="CDD:smart00327"
     misc_feature    3952..4467
                     /gene="COL6A3"
                     /note="vwa; Region: von Willebrand factor type A domain"
                     /db_xref="CDD:pfam00092"
     misc_feature    4558..5061
                     /gene="COL6A3"
                     /note="VWA; Region: von Willebrand factor (vWF) type A
                     domain"
                     /db_xref="CDD:smart00327"
     misc_feature    4561..5076
                     /gene="COL6A3"
                     /note="vwa; Region: von Willebrand factor type A domain"
                     /db_xref="CDD:pfam00092"
     misc_feature    5164..5652
                     /gene="COL6A3"
                     /note="VWA; Region: von Willebrand factor (vWF) type A
                     domain"
                     /db_xref="CDD:smart00327"
     misc_feature    5170..5658
                     /gene="COL6A3"
                     /note="vwa; Region: von Willebrand factor type A domain"
                     /db_xref="CDD:pfam00092"
     misc_feature    5764..6228
                     /gene="COL6A3"
                     /note="VWA; Region: von Willebrand factor (vWF) type A
                     domain"
                     /db_xref="CDD:smart00327"
     misc_feature    6493..6735
                     /gene="COL6A3"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies). Members of this family belong to the collagen
                     superfamily. Collagens are generally extracellular
                     structural proteins involved in formation of connective
                     tissue structure. The alignment contains 20 copies of the
                     G-X-Y repeat that forms a triple helix. The first position
                     of the repeat is G"
                     /db_xref="CDD:pfam01391"
     misc_feature    6511..6771
                     /gene="COL6A3"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies). Members of this family belong to the collagen
                     superfamily. Collagens are generally extracellular
                     structural proteins involved in formation of connective
                     tissue structure. The alignment contains 20 copies of the
                     G-X-Y repeat that forms a triple helix. The first position
                     of the repeat is G"
                     /db_xref="CDD:pfam01391"
     misc_feature    6631..6777
                     /gene="COL6A3"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies). Members of this family belong to the collagen
                     superfamily. Collagens are generally extracellular
                     structural proteins involved in formation of connective
                     tissue structure. The alignment contains 20 copies of the
                     G-X-Y repeat that forms a triple helix. The first position
                     of the repeat is G"
                     /db_xref="CDD:pfam01391"
     misc_feature    6637..6777
                     /gene="COL6A3"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies). Members of this family belong to the collagen
                     superfamily. Collagens are generally extracellular
                     structural proteins involved in formation of connective
                     tissue structure. The alignment contains 20 copies of the
                     G-X-Y repeat that forms a triple helix. The first position
                     of the repeat is G"
                     /db_xref="CDD:pfam01391"
     misc_feature    7198..7269
                     /gene="COL6A3"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies). Members of this family belong to the collagen
                     superfamily. Collagens are generally extracellular
                     structural proteins involved in formation of connective
                     tissue structure. The alignment contains 20 copies of the
                     G-X-Y repeat that forms a triple helix. The first position
                     of the repeat is G"
                     /db_xref="CDD:pfam01391"
     misc_feature    7201..7320
                     /gene="COL6A3"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies). Members of this family belong to the collagen
                     superfamily. Collagens are generally extracellular
                     structural proteins involved in formation of connective
                     tissue structure. The alignment contains 20 copies of the
                     G-X-Y repeat that forms a triple helix. The first position
                     of the repeat is G"
                     /db_xref="CDD:pfam01391"
     misc_feature    7201..7320
                     /gene="COL6A3"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies). Members of this family belong to the collagen
                     superfamily. Collagens are generally extracellular
                     structural proteins involved in formation of connective
                     tissue structure. The alignment contains 20 copies of the
                     G-X-Y repeat that forms a triple helix. The first position
                     of the repeat is G"
                     /db_xref="CDD:pfam01391"
     misc_feature    7201..7320
                     /gene="COL6A3"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies). Members of this family belong to the collagen
                     superfamily. Collagens are generally extracellular
                     structural proteins involved in formation of connective
                     tissue structure. The alignment contains 20 copies of the
                     G-X-Y repeat that forms a triple helix. The first position
                     of the repeat is G"
                     /db_xref="CDD:pfam01391"
     misc_feature    7201..7317
                     /gene="COL6A3"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies). Members of this family belong to the collagen
                     superfamily. Collagens are generally extracellular
                     structural proteins involved in formation of connective
                     tissue structure. The alignment contains 20 copies of the
                     G-X-Y repeat that forms a triple helix. The first position
                     of the repeat is G"
                     /db_xref="CDD:pfam01391"
     misc_feature    7201..7317
                     /gene="COL6A3"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies). Members of this family belong to the collagen
                     superfamily. Collagens are generally extracellular
                     structural proteins involved in formation of connective
                     tissue structure. The alignment contains 20 copies of the
                     G-X-Y repeat that forms a triple helix. The first position
                     of the repeat is G"
                     /db_xref="CDD:pfam01391"
     misc_feature    7201..7314
                     /gene="COL6A3"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies). Members of this family belong to the collagen
                     superfamily. Collagens are generally extracellular
                     structural proteins involved in formation of connective
                     tissue structure. The alignment contains 20 copies of the
                     G-X-Y repeat that forms a triple helix. The first position
                     of the repeat is G"
                     /db_xref="CDD:pfam01391"
     misc_feature    7201..7302
                     /gene="COL6A3"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies). Members of this family belong to the collagen
                     superfamily. Collagens are generally extracellular
                     structural proteins involved in formation of connective
                     tissue structure. The alignment contains 20 copies of the
                     G-X-Y repeat that forms a triple helix. The first position
                     of the repeat is G"
                     /db_xref="CDD:pfam01391"
     misc_feature    7204..7314
                     /gene="COL6A3"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies). Members of this family belong to the collagen
                     superfamily. Collagens are generally extracellular
                     structural proteins involved in formation of connective
                     tissue structure. The alignment contains 20 copies of the
                     G-X-Y repeat that forms a triple helix. The first position
                     of the repeat is G"
                     /db_xref="CDD:pfam01391"
     misc_feature    7453..7977
                     /gene="COL6A3"
                     /note="VWA; Region: von Willebrand factor (vWF) type A
                     domain"
                     /db_xref="CDD:smart00327"
     misc_feature    7459..7998
                     /gene="COL6A3"
                     /note="vwa; Region: von Willebrand factor type A domain"
                     /db_xref="CDD:pfam00092"
     misc_feature    8110..8667
                     /gene="COL6A3"
                     /note="vwa; Region: von Willebrand factor type A domain"
                     /db_xref="CDD:pfam00092"
     misc_feature    8110..8640
                     /gene="COL6A3"
                     /note="VWA; Region: von Willebrand factor (vWF) type A
                     domain"
                     /db_xref="CDD:smart00327"
     misc_feature    9229..9435
                     /gene="COL6A3"
                     /note="FN3; Region: Fibronectin type 3 domain"
                     /db_xref="CDD:smart00060"
     misc_feature    9580..9738
                     /gene="COL6A3"
                     /note="KU; Region: BPTI/Kunitz family of serine protease
                     inhibitors."
                     /db_xref="CDD:smart00131"
     misc_feature    9586..9738
                     /gene="COL6A3"
                     /note="Kunitz_BPTI; Region: Kunitz/Bovine pancreatic
                     trypsin inhibitor domain. Indicative of a protease
                     inhibitor"
                     /db_xref="CDD:pfam00014"
     misc_feature    347..964
                     /gene="COL6A3"
                     /note="alternatively spliced subdomain N10"
     misc_feature    965..1567
                     /gene="COL6A3"
                     /note="alternatively spliced subdomain N9"
     misc_feature    2153..2752
                     /gene="COL6A3"
                     /note="alternatively spliced subdomain N7"
     misc_feature    4541..5041
                     /gene="COL6A3"
                     /note="alternatively spliced subdomain N3"
     variation       complement(4788)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:2645774"
     variation       6624
                     /gene="COL6A3"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3088292"
     variation       complement(7767)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2646258"
     variation       complement(7851)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2291795"
     variation       9269
                     /gene="COL6A3"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2270668"
     variation       9286
                     /gene="COL6A3"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2270669"
     variation       9458
                     /gene="COL6A3"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1131296"
     variation       9458
                     /gene="COL6A3"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3191076"
     variation       10299
                     /gene="COL6A3"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1050765"
     variation       10391
                     /gene="COL6A3"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:7436"
     variation       10451
                     /gene="COL6A3"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1050785"
     polyA_signal    10522..10527
                     /gene="COL6A3"
     polyA_site      10542
                     /gene="COL6A3"
BASE COUNT     2621 a   2645 c   2950 g   2342 t
ORIGIN      
        1 cagtttggag ctcagtcttc caccaaaggc cgttcagttc tcctgggctc cagcctcctg
       61 caaggactgc aagagttttc ctccgcagct ctgagtctcc acttttttgg tggagaaagg
      121 ctgcaaaaag aaaaagagac gcagtgagtg ggaaaagtat gcatcctatt caaacctaat
      181 tgaatcgagg agcccaggga cacacgcctt caggtttgct caggggttca tatttggtgc
      241 ttagacaaat tcaaaatgag gaaacatcgg cacttgccct tagtggccgt cttttgcctc
      301 tttctctcag gctttcctac aactcatgcc cagcagcagc aagcagatgt caaaaatggt
      361 gcggctgctg atataatatt tctagtggat tcctcttgga ccattggaga ggaacatttc
      421 caacttgttc gagagtttct atatgatgtt gtaaaatcct tagctgtggg agaaaatgat
      481 ttccattttg ctctggtcca gttcaacgga aacccacata ccgagttcct gttaaatacg
      541 tatcgtacta aacaagaagt cctttctcat atttccaaca tgtcttatat tgggggaacc
      601 aatcagactg gaaaaggatt agaatacata atgcaaagcc acctcaccaa ggctgctgga
      661 agccgggccg gtgacggagt ccctcaggtt atcgtagtgt taactgatgg acactcgaag
      721 gatggccttg ctctgccctc agcggaactt aagtctgctg atgttaacgt gtttgcaatt
      781 ggagttgagg atgcagatga aggagcgtta aaagaaatag caagtgaacc gctcaatatg
      841 catatgttca acctagagaa ttttacctca cttcatgaca tagtaggaaa cttagtgtcc
      901 tgtgtgcatt catccgtgag tccagaaagg gctggggaca cggaaaccct taaagacatc
      961 acagcacaag actctgctga cattattttc cttattgatg gatcaaacaa caccggaagt
     1021 gtcaatttcg cagtcattct cgacttcctt gtaaatctcc ttgagaaact cccaattgga
     1081 actcagcaga tccgagtggg ggtggtccag tttagcgatg agcccagaac catgttttcc
     1141 ttggacacct actccaccaa ggcccaggtt ctgggtgcag tgaaagccct cgggtttgct
     1201 ggtggggagt tggccaatat cggcctcgcc cttgatttcg tggtggagaa ccacttcacc
     1261 cgggcagggg gcagccgcgt ggaggaaggg gttccccagg tgctggtcct cataagtgcc
     1321 gggccttcta gtgacgagat tcgctacggg gtggtagcac tgaagcaggc tagcgtgttc
     1381 tcattcggcc ttggagccca ggccgcctcc agggcagagc ttcagcacat agctaccgat
     1441 gacaacttgg tgtttactgt cccggaattc cgtagctttg gggacctcca ggagaaatta
     1501 ctgccgtaca ttgttggcgt ggcccaaagg cacattgtct tgaaaccgcc aaccattgtc
     1561 acacaagtca ttgaagtcaa caagagagac atagtcttcc tggtggatgg ctcatctgca
     1621 ctgggactgg ccaacttcaa tgccatccga gacttcattg ctaaagtcat ccagaggctg
     1681 gaaatcggac aggatcttat ccaggtggca gtggcccagt atgcagacac tgtgaggcct
     1741 gaattttatt tcaataccca tccaacaaaa agggaagtca taaccgctgt gcggaaaatg
     1801 aagcccctgg acggctcggc cctgtacacg ggctctgctc tagactttgt tcgtaacaac
     1861 ctattcacga gttcagccgg ctaccgggct gccgagggga ttcctaagct tttggtgctg
     1921 atcacaggtg gtaagtccct agatgaaatc agccagcctg cccaggagct gaagagaagc
     1981 agcataatgg cctttgccat tgggaacaag ggtgccgatc aggctgagct ggaagagatc
     2041 gctttcgact cctccctggt gttcatccca gctgagttcc gagccgcccc attgcaaggc
     2101 atgctgcctg gcttgctggc acctctcagg accctctctg gaacccctga agttcactca
     2161 aacaaaagag atatcatctt tcttttggat ggatcagcca acgttggaaa aaccaatttc
     2221 ccttatgtgc gcgactttgt aatgaaccta gttaacagcc ttgatattgg aaatgacaat
     2281 attcgtgttg gtttagtgca atttagtgac actcctgtaa cggagttctc tttaaacaca
     2341 taccagacca agtcagatat ccttggtcat ctgaggcagc tgcagctcca gggaggttcg
     2401 ggcctgaaca caggctcagc cctaagctat gtctatgcca accacttcac ggaagctggc
     2461 ggcagcagga tccgtgaaca cgtgccgcag ctcctgcttc tgctcacagc tgggcagtct
     2521 gaggactcct atttgcaagc tgccaacgcc ttgacacgcg cgggcatcct gactttttgt
     2581 gtgggagcta gccaggcgaa taaggcagag cttgagcaga ttgcttttaa cccaagcctg
     2641 gtgtatctca tggatgattt cagctccctg ccagctttgc ctcagcagct gattcagccc
     2701 ctaaccacat atgttagtgg aggtgtggag gaagtaccac tcgctcagcc agagagcaag
     2761 cgagacattc tgttcctctt tgacggctca gccaatcttg tgggccagtt ccctgttgtc
     2821 cgtgactttc tctacaagat tatcgatgag ctcaatgtga agccagaggg gacccgaatt
     2881 gcggtggctc agtacagcga tgatgtcaag gtggagtccc gttttgatga gcaccagagt
     2941 aagcctgaga tcctgaatct tgtgaagaga atgaagatca agacgggcaa agccctcaac
     3001 ctgggctacg cgctggacta tgcacagagg tacatttttg tgaagtctgc tggcagccgg
     3061 atcgaggatg gagtgcttca gttcctggtg ctgctggtcg caggaaggtc atctgaccgt
     3121 gtggatgggc cagcaagtaa cctgaagcag agtggggttg tgcctttcat cttccaagcc
     3181 aagaacgcag accctgctga gttagagcag atcgtgctgt ctccagcgtt tatcctggct
     3241 gcagagtcgc ttcccaagat tggagatctt catccacaga tagtgaatct cttaaaatca
     3301 gtgcacaacg gagcaccagc accagtttca ggtgaaaagg acgtggtgtt tctgcttgat
     3361 ggctctgagg gcgtcaggag cggcttccct ctgttgaaag agtttgtcca gagagtggtg
     3421 gaaagcctgg atgtgggcca ggaccgggtc cgcgtggccg tggtgcagta cagcgaccgg
     3481 accaggcccg agttctacct gaattcatac atgaacaagc aggacgtcgt caacgctgtc
     3541 cgccagctga ccctgctggg agggccgacc cccaacaccg gggccgccct ggagtttgtc
     3601 ctgaggaaca tcctggtcag ctctgcggga agcaggataa cagaaggtgt gccccagctg
     3661 ctgatcgtcc tcacggccga caggtctggg gatgatgtgc ggaacccctc cgtggtcgtg
     3721 aagaggggtg gggctgtgcc cattggcatt ggcatcggga acgctgacat cacagagatg
     3781 cagaccatct ccttcatccc ggactttgcc gtggccattc ccacctttcg ccagctgggg
     3841 accgtccaac aggtcatctc tgagagggtg acccagctca cccgcgagga gctgagcagg
     3901 ctgcagccgg tgttgcagcc tctaccgagc ccaggtgttg gtggcaagag ggacgtggtc
     3961 tttctcatcg atgggtccca aagtgccggg cctgagttcc agtacgttcg caccctcata
     4021 gagaggctgg ttgactacct ggacgtgggc tttgacacca cccgggtggc tgtcatccag
     4081 ttcagcgatg accccaaggc ggagttcctg ctgaacgccc attccagcaa ggatgaagtg
     4141 cagaacgcgg tgcagcggct gaggcccaag ggagggcggc agatcaacgt gggcaatgcc
     4201 ctggagtacg tgtccaggaa catcttcaag aggcccctgg ggagccgcat tgaagagggc
     4261 gtcccacagt tcctggtcct catctcgtct ggaaagtctg acgatgaggt ggtcgtcccg
     4321 gcggtggagc tcaagcagtt tggcgtggcc cctttcacga tcgccaggaa cgcagaccag
     4381 gaggagctgg tgaagatctc gctgagcccc gaatatgtgt tctcggtgag caccttccgg
     4441 gagctgccca gcctggagca gaaactgctg acgcccatca cgaccctgac ctcagagcag
     4501 atccagaagc tcttagccag cactcgctat ccacctccag cagttgagag tgatgctgca
     4561 gacattgtct ttctgatcga cagctctgag ggagttaggc cagatggctt tgcacatatt
     4621 cgagattttg ttagcaggat tgttcgaaga ctcaacatcg gccccagtaa agtgagagtt
     4681 ggggtcgtgc agttcagcaa tgatgtcttc ccagaattct atctgaaaac ctacagatcc
     4741 caggccccgg tgctggacgc catacggcgc ctgaggctca gaggggggtc cccactgaac
     4801 actggcaagg ctctcgaatt tgtggcaaga aacctctttg ttaagtctgc ggggagtcgc
     4861 atagaagacg gggtgcccca acacctggtc ctggtcctgg gtggaaaatc ccaggacgat
     4921 gtgtccaggt tcgcccaggt gatccgttcc tcgggcattg tgagtttagg ggtaggagac
     4981 cggaacatcg acagaacaga gctgcagacc atcaccaatg accccagact ggtcttcaca
     5041 gtgcgagagt tcagagagct tcccaacata gaagaaagaa tcatgaactc gtttggaccc
     5101 tccgcagcca ctcctgcacc tccaggggtg gacacccctc ctccttcacg gccagagaag
     5161 aagaaagcag acattgtgtt cctgttggat ggttccatca acttcaggag ggacagtttc
     5221 caggaagtgc ttcgttttgt gtctgaaata gtggacacag tttatgaaga tggcgactcc
     5281 atccaagtgg ggcttgtcca gtacaactct gaccccactg acgaattctt cctgaaggac
     5341 ttctctacca agaggcagat tattgacgcc atcaacaaag tggtctacaa agggggaaga
     5401 cacgccaaca ctaaggtggg ccttgagcac ctgcgggtaa accactttgt gcctgaggca
     5461 ggcagccgcc tggaccagcg ggtccctcag attgcctttg tgatcacggg aggaaagtcg
     5521 gtggaagatg cacaggatgt gagcctggcc ctcacccaga ggggggtcaa agtgtttgct
     5581 gttggagtga ggaatatcga ctcggaggag gttggaaaga tagcgtccaa cagcgccaca
     5641 gcgttccgcg tgggcaacgt ccaggagctg tccgaactga gcgagcaagt tttggaaact
     5701 ttgcatgatg cgatgcatga aaccctttgc cctggtgtaa ctgatgctgc caaagcttgt
     5761 aatctggatg tgattctggg gtttgatggt tctagagacc agaatgtttt tgtggcccag
     5821 aagggcttcg agtccaaggt ggacgccatc ttgaacagaa tcagccagat gcacagggtc
     5881 agctgcagcg gtggccgctc gcccaccgtg cgtgtgtcag tggtggccaa cacgccctcg
     5941 ggcccggtgg aggcctttga ctttgacgag taccagccag agatgctcga gaagttccgg
     6001 aacatgcgca gccagcaccc ctacgtcctc acggaggaca ccctgaaggt ctacctgaac
     6061 aagttcagac agtcctcgcc ggacagcgtg aaggtggtca ttcattttac tgatggagca
     6121 gacggagatc tggctgattt acacagagca tctgagaacc tccgccaaga aggagtccgt
     6181 gccttgatcc tggtgggcct tgaacgagtg gtcaacttgg agcggctaat gcatctggag
     6241 tttgggcgag ggtttatgta tgacaggccc ctgaggctta acttgctgga cttggattat
     6301 gaactagcgg agcagcttga caacattgcc gagaaagctt gctgtggggt tccctgcaag
     6361 tgctctgggc agaggggaga ccgcgggccc atcggcagca tcgggccaaa gggtattcct
     6421 ggagaagacg gctaccgagg ctatcctggt gatgagggtg gacccggtga gcgtggtccg
     6481 cctggtgtga acggcactca aggtttccag ggctgcccgg gccagagagg agtaaagggc
     6541 tctcggggat tcccaggaga gaagggcgaa gtaggagaaa ttggactgga tggtctggat
     6601 ggtgaagatg gagacaaagg attgcctggt tcttctggag agaaagggaa tcctggaaga
     6661 aggggtgata aaggacctcg aggagagaaa ggagaaagag gagatgttgg gattcgaggg
     6721 gacccgggta acccaggaca agacagccag gagagaggac ccaaaggaga aaccggtgac
     6781 ctcggcccca tgggtgtccc agggagagat ggagtacctg gaggacctgg agaaactggg
     6841 aagaatggtg gctttggccg aaggggaccc cccggagcta agggcaacaa gggcggtcct
     6901 ggccagccgg gctttgaggg agagcagggg accagaggtg cacagggccc agctggtcct
     6961 gctggtcctc cagggctgat aggagaacaa ggcatttctg gacctagggg aagcggaggt
     7021 gcccgtggcg ctcctggaga acgaggcaga accggtccac tgggaagaaa gggtgagccc
     7081 ggagagccag gaccaaaagg aggaatcggg aacccgggcc ctcgtgggga gacgggagat
     7141 gacgggagag acggagttgg cagtgaagga cgcagaggca aaaaaggaga aagaggattt
     7201 cctggatacc caggaccaaa gggtaaccca ggtgaacctg ggctaaatgg aacaacagga
     7261 cccaaaggca tcagaggccg aaggggaaat tcgggacctc cagggatagt tggacagaag
     7321 gggagacctg gctacccagg accagctggt ccaaggggca acaggggcga ctccatcgat
     7381 caatgtgccc tcatccaaag catcaaagat aaatgccctt gctgttacgg gcccctggag
     7441 tgccccgtct tcccaacaga actagccttt gctttagaca cctctgaggg agtcaaccaa
     7501 gacactttcg gccggatgcg agatgtggtc ttgagtattg tgaatgtcct gaccattgct
     7561 gagagcaact gcccgacggg ggcccgggtg gctgtggtca cctacaacaa cgaggtgacc
     7621 acggagatcc ggtttgctga ctccaagagg aagtcggtcc tcctggacaa gattaagaac
     7681 cttcaggtgg ctctgacatc caaacagcag agtctggaga ctgccatgtc gtttgtggcc
     7741 aggaacacat ttaagcgtgt gaggaacgga ttcctaatga ggaaagtggc tgttttcttc
     7801 agcaacacac ccacaagagc atccccacag ctcagagagg ctgtgctcaa actctcagat
     7861 gcggggatca cccccttgtt ccttacaagg caggaagacc ggcagctcat caacgctttg
     7921 cagatcaata acacagcagt ggggcatgcg cttgtcctgc ctgcagggag agacctcaca
     7981 gacttcctgg agaatgtcct cacgtgtcat gtttgcttgg acatctgcaa catcgaccca
     8041 tcctgtggat ttggcagttg gaggccttcc ttcagggaca ggagagcggc agggagtgat
     8101 gtggacatcg acatggcttt catcttagac agcgctgaga ccaccaccct gttccagttc
     8161 aatgagatga agaagtacat agcgtacctg gtcagacaac tggacatgag cccagatccc
     8221 aaggcctccc agcacttcgc cagagtggca gttgtgcagc acgcgccctc tgagtccgtg
     8281 gacaatgcca gcatgccacc tgtgaaggtg gaattctccc tgactgacta tggctccaag
     8341 gagaagctgg tggacttcct cagcagggga atgacacagt tgcagggaac cagggcctta
     8401 ggcagtgcca ttgaatacac catagagaat gtctttgaaa gtgccccaaa cccacgggac
     8461 ctgaaaattg tggtcctgat gctgacgggc gaggtgccgg agcagcagct ggaggaggcc
     8521 cagagagtca tcctgcaggc caaatgcaag ggctacttct tcgtggtcct gggcattggc
     8581 aggaaggtga acatcaagga ggtatacacc ttcgccagtg agccaaacga cgtcttcttc
     8641 aaattagtgg acaagtccac cgagctcaac gaggagcctt tgatgcgctt cgggaggctg
     8701 ttgccgtcct tcgtcagcag tgaaaatgct ttttacttgt ccccagatat caggaaacag
     8761 tgtgattggt tccaagggga ccaacccaca aagaaccttg tgaagtttgg tcacaaacaa
     8821 gtaaatgttc cgaataacgt tacttcaagt cctacatcca acccagtgac gacaacgaag
     8881 ccggtgacta cgacgaagcc ggtgaccacc acaacaaagc ctgtaaccac cacaacaaag
     8941 cctgtgacta ttataaatca gccatctgtg aagccagccg ctgcaaagcc ggcccctgcg
     9001 aaacctgtgg ctgccaagcc tgtggccaca aagacggcca ctgttagacc cccagtggcg
     9061 gtgaagccag caacagcagc gaagcctgta gcagcaaagc cagcagctgt aagacccccc
     9121 gctgctgctg caaaaccagt ggcgaccaag cctgaggtcc ctaggccaca ggcagccaaa
     9181 ccagctgcca ccaagccagc caccactaag cccgtggtta agatgctccg tgaagtccag
     9241 gtgtttgaga taacagagaa cagcgccaaa ctccactggg agaggcctga gccccccggt
     9301 ccttattttt atgacctcac cgtcacctca gcccatgatc agtccctggt tctgaagcag
     9361 aacctcacgg tcacggaccg cgtcattgga ggcctgctcg ctgggcagac ataccatgtg
     9421 gctgtggtct gctacctgag gtctcaggtc agagccacct accacggaag tttcagtaca
     9481 aagaaatctc agcccccacc tccacagcca gcaaggtcag cttctagttc aaccatcaat
     9541 ctaatggtga gcacagaacc attggctctc actgaaacag atatatgcaa gttgccgaaa
     9601 gacgaaggaa cttgcaggga tttcatatta aaatggtact atgatccaaa caccaaaagc
     9661 tgtgcaagat tctggtatgg aggttgtggt ggaaacgaaa acaaatttgg atcacagaaa
     9721 gaatgtgaaa aggtttgcgc tcctgtgctc gccaaacccg gagtcatcag tgtgatggga
     9781 acctaagcgt gggtggccaa catcatatac ctcttgaaga agaaggagtc agccatcgcc
     9841 aacttgtctc tgtagaagct ccgggtgtag attcccttgc actgtatcat ttcatgcttt
     9901 gatttacact cgaactcggg agggaacatc ctgctgcatg acctatcagt atggtgctaa
     9961 tgtgtctgtg gaccctcgct ctctgtctcc agcagttctc tcgaatactt tgaatgttgt
    10021 gtaacagtta gccactgctg gtgtttatgt gaacattcct atcaatccaa attccctctg
    10081 gagtttcatg ttatgcctgt tgcaggcaaa tgtaaagtct agaaaataat gcaaatgtca
    10141 cggctactct atatactttt gcttggttca ttttttttcc cttttagtta agcatgactt
    10201 tagatgggaa gcctgtgtat cgtggagaaa caagagacca actttttcat tccctgcccc
    10261 caatttccca gactagattt caagctaatt ttctttttct gaagcctcta acaaatgatc
    10321 tagttcagaa ggaagcaaaa tcccttaatc tatgtgcacc gttgggacca atgccttaat
    10381 taaagaattt aaaaaagttg taatagagaa tatttttggc attcctctca atgttgtgtg
    10441 tttttttttt ttgtgtgctg gagggagggg atttaatttt aattttaaaa tgtttaggaa
    10501 atttatacaa agaaactttt taataaagta tattgaaagt ttaaaaaaaa aaaaaaaa
//



Revised: July 5, 2002.
 
 


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1: NM_004867. Homo sapiens inte...[gi:4758223] Links  


LOCUS       ITM2A                   1082 bp    mRNA    linear   PRI 01-NOV-2000
DEFINITION  Homo sapiens integral membrane protein 2A (ITM2A), mRNA.
ACCESSION   NM_004867
VERSION     NM_004867.1  GI:4758223
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1082)
  AUTHORS   Deleersnijder,W., Hong,G., Cortvrindt,R., Poirier,C.,
            Tylzanowski,P., Pittois,K., Van Marck,E. and Merregaert,J.
  TITLE     Isolation of markers for chondro-osteogenic differentiation using
            cDNA library subtraction. Molecular cloning and characterization of
            a gene belonging to a novel multigene family of integral membrane
            proteins
  JOURNAL   J. Biol. Chem. 271 (32), 19475-19482 (1996)
  MEDLINE   96325063
   PUBMED   8702637
REFERENCE   2  (bases 1 to 1082)
  AUTHORS   Mao,M., Fu,G., Wu,J.-S., Zhang,Q.-H., Zhou,J., Kan,L.-X.,
            Huang,Q.-H., He,K.-L., Gu,B.-W., Han,Z.-G., Shen,Y., Gu,J.,
            Yu,Y.-P., Xu,S.-H., Wang,Y., Chen,S.-J. and Chen,Z.
  TITLE     Identification of genes expressed in human CD34(+) hematopoietic
            stem/progenitor cells by expressed sequence tags and efficient
            full-length cDNA cloning
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 95 (14), 8175-8180 (1998)
  MEDLINE   98318631
   PUBMED   9653160
REFERENCE   3  (bases 1 to 1082)
  AUTHORS   Pittois,K., Wauters,J., Bossuyt,P., Deleersnijder,W. and
            Merregaert,J.
  TITLE     Genomic organization and chromosomal localization of the Itm2a gene
  JOURNAL   Mamm. Genome 10 (1), 54-56 (1999)
  MEDLINE   99111395
   PUBMED   9892734
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF038953.1.
FEATURES             Location/Qualifiers
     source          1..1082
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.3-Xq21.2"
                     /cell_type="CD34+ cell"
                     /tissue_type="cord blood"
     gene            1..1082
                     /gene="ITM2A"
                     /note="E25A"
                     /db_xref="LocusID:9452"
                     /db_xref="MIM:300222"
     CDS             140..931
                     /gene="ITM2A"
                     /codon_start=1
                     /product="integral membrane protein 2A"
                     /protein_id="NP_004858.1"
                     /db_xref="GI:4758224"
                     /db_xref="LocusID:9452"
                     /db_xref="MIM:300222"
                     /translation="MVKIAFNTPTAVQKEEARQDVEALLSRTVRTQILTGKELRVATQ
                     EKEGSSGRCMLTLLGLSFILAGLIVGGACIYKYFMPKSTIYRGEMCFFDSEDPANSLR
                     GGEPNFLPVTEEADIREDDNIAIIDVPVPSFSDSDPAAIIHDFEKGMTAYLDLLLGNC
                     YLMPLNTSIVMPPKNLVELFGKLASGRYLPQTYVVREDLVAVEEIRDVSNLGIFIYQL
                     CNNRKSFRLRRRDLLLGFNKRAIDKCWKIRHFPNEFIVETKICQE"
     variation       812
                     /gene="ITM2A"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3180833"
     variation       816
                     /gene="ITM2A"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3180834"
     variation       850
                     /gene="ITM2A"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:14518"
     variation       971
                     /gene="ITM2A"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1802166"
     variation       complement(1017)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:15751"
BASE COUNT      299 a    242 c    252 g    289 t
ORIGIN      
        1 gatcccagac ctcggcttgc agtagtgtta gactgaagat aaagtaagtg ctgtttgggc
       61 taacaggatc tcctcttgca gtctgcagcc caggacgctg attccagcag cgccttaccg
      121 cgcagcccga agattcacta tggtgaaaat cgccttcaat acccctaccg ccgtgcaaaa
      181 ggaggaggcg cggcaagacg tggaggccct cctgagccgc acggtcagaa ctcagatact
      241 gaccggcaag gagctccgag ttgccaccca ggaaaaagag ggctcctctg ggagatgtat
      301 gcttactctc ttaggccttt cattcatctt ggcaggactt attgttggtg gagcctgcat
      361 ttacaagtac ttcatgccca agagcaccat ttaccgtgga gagatgtgct tttttgattc
      421 tgaggatcct gcaaattccc ttcgtggagg agagcctaac ttcctgcctg tgactgagga
      481 ggctgacatt cgtgaggatg acaacattgc aatcattgat gtgcctgtcc ccagtttctc
      541 tgatagtgac cctgcagcaa ttattcatga ctttgaaaag ggaatgactg cttacctgga
      601 cttgttgctg gggaactgct atctgatgcc cctcaatact tctattgtta tgcctccaaa
      661 aaatctggta gagctctttg gcaaactggc gagtggcaga tatctgcctc aaacttatgt
      721 ggttcgagaa gacctagttg ctgtggagga aattcgtgat gttagtaacc ttggcatctt
      781 tatttaccaa ctttgcaata acagaaagtc cttccgcctt cgtcgcagag acctcttgct
      841 gggtttcaac aaacgtgcca ttgataaatg ctggaagatt agacacttcc ccaacgaatt
      901 tattgttgag accaagatct gtcaagagta agaggcaaca gatagagtgt ccttggtaat
      961 aagaagtcag agatttacaa tatgacttta acattaaggt ttatgggata ctcaagatat
     1021 ttactcatgc atttactcta ttgcttatgc cgtaaaaaaa aaaaaaaaaa aaaaaaaaaa
     1081 aa
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_000967. Homo sapiens ribo...[gi:16507968] Links  


LOCUS       RPL3                    1311 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens ribosomal protein L3 (RPL3), mRNA.
ACCESSION   NM_000967
VERSION     NM_000967.2  GI:16507968
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1311)
  AUTHORS   Reddy,T.R., Suhasini,M., Rappaport,J., Looney,D.J., Kraus,G. and
            Wong-Staal,F.
  TITLE     Molecular cloning and characterization of a TAR-binding nuclear
            factor from T cells
  JOURNAL   AIDS Res. Hum. Retroviruses 11 (6), 663-669 (1995)
  MEDLINE   96078226
   PUBMED   7576925
REFERENCE   2  (bases 1 to 1311)
  AUTHORS   Wool,I.G., Chan,Y.L. and Gluck,A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem. Cell Biol. 73 (11-12), 933-947 (1995)
  MEDLINE   96282697
   PUBMED   8722009
  REMARK    This review focuses primarily on rat ribosomal proteins, but it
            compares them to human ribosomal proteins.
REFERENCE   3  (bases 1 to 1311)
  AUTHORS   Kenmochi,N., Kawaguchi,T., Rozen,S., Davis,E., Goodman,N.,
            Hudson,T.J., Tanaka,T. and Page,D.C.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res. 8 (5), 509-523 (1998)
  MEDLINE   98248690
   PUBMED   9582194
REFERENCE   4  (bases 1 to 1311)
  AUTHORS   Duga,S., Asselta,R., Malcovati,M., Tenchini,M.L., Ronchi,S. and
            Simonic,T.
  TITLE     The intron-containing L3 ribosomal protein gene (RPL3): sequence
            analysis and identification of U43 and of two novel intronic small
            nucleolar RNAs
  JOURNAL   Biochim. Biophys. Acta 1490 (3), 225-236 (2000)
  MEDLINE   20149844
   PUBMED   10684968
REFERENCE   5  (bases 1 to 1311)
  AUTHORS   Uechi,T., Tanaka,T. and Kenmochi,N.
  TITLE     A complete map of the human ribosomal protein genes: assignment of
            80 genes to the cytogenetic map and implications for human
            disorders
  JOURNAL   Genomics 72 (3), 223-230 (2001)
  MEDLINE   21295043
   PUBMED   11401437
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC012146.1 and BC008492.1.
            On Oct 29, 2001 this sequence version replaced gi:4506648.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L3P family of ribosomal proteins. It is located in the
            cytoplasm. The protein can bind to the HIV-1 TAR mRNA, and it has
            been suggested that the protein contributes to tat-mediated
            transactivation. This gene is co-transcribed with the small
            nucleolar RNA genes U43, U86, U83a, and U83b, which are located in
            its first, third, fifth, and seventh introns, respectively. As is
            typical for genes encoding ribosomal proteins, there are multiple
            processed pseudogenes of this gene dispersed through the genome.
FEATURES             Location/Qualifiers
     source          1..1311
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13"
     gene            1..1311
                     /gene="RPL3"
                     /note="TARBP-B"
                     /db_xref="LocusID:6122"
                     /db_xref="MIM:604163"
     CDS             27..1238
                     /gene="RPL3"
                     /note="60S ribosomal protein L3; HIV-1 TAR RNA-binding
                     protein B"
                     /codon_start=1
                     /product="ribosomal protein L3"
                     /protein_id="NP_000958.1"
                     /db_xref="GI:4506649"
                     /db_xref="LocusID:6122"
                     /db_xref="MIM:604163"
                     /translation="MSHRKFSAPRHGSLGFLPRKRSSRHRGKVKSFPKDDPSKPVHLT
                     AFLGYKAGMTHIVREVDRPGSKVNKKEVVEAVTIVETPPMVVVGIVGYVETPRGLRTF
                     KTVFAEHISDECKRRFYKNWHKSKKKAFTKYCKKWQDEDGKKQLEKDFSSMKKYCQVI
                     RVIAHTQMRLLPLRQKKAHLMEIQVNGGTVAEKLDWARERLEQQVPVNQVFGQDEMID
                     VIGVTKGKGYKGVTSRWHTKKLPRKTHRGLRKVACIGAWHPARVAFSVARAGQKGYHH
                     RTEINKKIYKIGQGYLIKDGKLIKNNASTDYDLSDKSINPLGGFVHYGEVTNDFVMLK
                     GCVVGTKKRVLTLRKSLLVQTKRRALEKIDLKFIDTTSKFGHGRFQTMEEKKAFMGPL
                     KKDRIAKEEGA"
     misc_feature    174..1067
                     /gene="RPL3"
                     /note="Region: pfam00297, Ribosomal_L3, Ribosomal protein
                     L3"
     variation       complement(137)
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2524062"
     variation       750
                     /gene="RPL3"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2071946"
     variation       773
                     /gene="RPL3"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2228648"
     variation       1049
                     /gene="RPL3"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3211014"
     variation       1094
                     /gene="RPL3"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3211560"
     variation       1196
                     /gene="RPL3"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3203498"
     variation       1199
                     /gene="RPL3"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1062426"
     polyA_signal    1273..1278
                     /gene="RPL3"
     polyA_site      1293
                     /gene="RPL3"
                     /evidence=experimental
BASE COUNT      352 a    321 c    382 g    256 t
ORIGIN      
        1 ctctaccggc gggatttgat ggcgtgatgt ctcacagaaa gttctccgct cccagacatg
       61 ggtccctcgg cttcctgcct cggaagcgca gcagcaggca tcgtgggaag gtgaagagct
      121 tccctaagga tgacccgtcc aagccggtcc acctcacagc cttcctggga tacaaggctg
      181 gcatgactca catcgtgcgg gaagtcgaca ggccgggatc caaggtgaac aagaaggagg
      241 tggtggaggc tgtgaccatt gtagagacac cacccatggt ggttgtgggc attgtgggct
      301 acgtggaaac ccctcgaggc ctccggacct tcaagactgt ctttgctgag cacatcagtg
      361 atgaatgcaa gaggcgtttc tataagaatt ggcataaatc taagaagaag gcctttacca
      421 agtactgcaa gaaatggcag gatgaggatg gcaagaagca gctggagaag gacttcagca
      481 gcatgaagaa gtactgccaa gtcatccgtg tcattgccca cacccagatg cgcctgcttc
      541 ctctgcgcca gaagaaggcc cacctgatgg agatccaggt gaacggaggc actgtggccg
      601 agaagctgga ctgggcccgc gagaggcttg agcagcaggt acctgtgaac caagtgtttg
      661 ggcaggatga gatgatcgac gtcatcgggg tgaccaaggg caaaggctac aaaggggtca
      721 ccagtcgttg gcacaccaag aagctgcccc gcaagaccca ccgaggcctg cgcaaggtgg
      781 cctgtattgg ggcatggcat cctgctcgtg tagccttctc tgtggcacgc gctgggcaga
      841 aaggctacca tcaccgcact gagatcaaca agaagattta taagattggc cagggctacc
      901 ttatcaagga cggcaagctg atcaagaaca atgcctccac tgactatgac ctatctgaca
      961 agagcatcaa ccctctgggt ggctttgtcc actatggtga agtgaccaat gactttgtca
     1021 tgctgaaagg ctgtgtggtg ggaaccaaga agcgggtgct caccctccgc aagtccttgc
     1081 tggtgcagac gaagcggcgg gctctggaga agattgacct taagttcatt gacaccacct
     1141 ccaagtttgg ccatggccgc ttccagacca tggaggagaa gaaagcattc atgggaccac
     1201 tgaagaaaga ccgaattgca aaggaagaag gagcttaatg ccaggaacag attttgcagt
     1261 tggtggggtc tcaataaaag ttattttcca ctgaaaaaaa aaaaaaaaaa a
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

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&&&&&&&


    
 
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   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_000582. Homo sapiens secr...[gi:4759165] Links  


LOCUS       SPP1                    1524 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens secreted phosphoprotein 1 (osteopontin, bone
            sialoprotein I, early T-lymphocyte activation 1) (SPP1), mRNA.
ACCESSION   NM_000582
VERSION     NM_000582.1  GI:4759165
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1524)
  AUTHORS   Kiefer,M.C., Bauer,D.M. and Barr,P.J.
  TITLE     The cDNA and derived amino acid sequence for human osteopontin
  JOURNAL   Nucleic Acids Res. 17 (8), 3306 (1989)
  MEDLINE   89263749
   PUBMED   2726470
REFERENCE   2  (bases 1 to 1524)
  AUTHORS   Fisher,L.W., McBride,O.W., Termine,J.D. and Young,M.F.
  TITLE     Human bone sialoprotein. Deduced protein sequence and chromosomal
            localization
  JOURNAL   J. Biol. Chem. 265 (4), 2347-2351 (1990)
  MEDLINE   90130496
   PUBMED   2404984
REFERENCE   3  (bases 1 to 1524)
  AUTHORS   Young,M.F., Kerr,J.M., Termine,J.D., Wewer,U.M., Wang,M.G.,
            McBride,O.W. and Fisher,L.W.
  TITLE     cDNA cloning, mRNA distribution and heterogeneity, chromosomal
            location, and RFLP analysis of human osteopontin (OPN)
  JOURNAL   Genomics 7 (4), 491-502 (1990)
  MEDLINE   90353945
   PUBMED   1974876
REFERENCE   4  (bases 1 to 1524)
  AUTHORS   Shiraga,H., Min,W., VanDusen,W.J., Clayman,M.D., Miner,D.,
            Terrell,C.H., Sherbotie,J.R., Foreman,J.W., Przysiecki,C.,
            Neilson,E.G. et al.
  TITLE     Inhibition of calcium oxalate crystal growth in vitro by uropontin:
            another member of the aspartic acid-rich protein superfamily
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 89 (1), 426-430 (1992)
  MEDLINE   92108068
   PUBMED   1729712
REFERENCE   5  (bases 1 to 1524)
  AUTHORS   Kohri,K., Suzuki,Y., Yoshida,K., Yamamoto,K., Amasaki,N.,
            Yamate,T., Umekawa,T., Iguchi,M., Sinohara,H. and Kurita,T.
  TITLE     Molecular cloning and sequencing of cDNA encoding urinary stone
            protein, which is identical to osteopontin
  JOURNAL   Biochem. Biophys. Res. Commun. 184 (2), 859-864 (1992)
  MEDLINE   92246977
   PUBMED   1575754
REFERENCE   6  (bases 1 to 1524)
  AUTHORS   Crosby,A.H., Edwards,S.J., Murray,J.C. and Dixon,M.J.
  TITLE     Genomic organization of the human osteopontin gene: exclusion of
            the locus from a causative role in the pathogenesis of
            dentinogenesis imperfecta type II
  JOURNAL   Genomics 27 (1), 155-160 (1995)
  MEDLINE   95394452
   PUBMED   7665163
REFERENCE   7  (bases 1 to 1524)
  AUTHORS   Crosby,A.H., Lyu,M.S., Lin,K., McBride,O.W., Kerr,J.M., Aplin,H.M.,
            Fisher,L.W., Young,M.F., Kozak,C.A. and Dixon,M.J.
  TITLE     Mapping of the human and mouse bone sialoprotein and osteopontin
            loci
  JOURNAL   Mamm. Genome 7 (2), 149-151 (1996)
  MEDLINE   96432468
   PUBMED   8835534
REFERENCE   8  (bases 1 to 1524)
  AUTHORS   Andersson,B., Wentland,M.A., Ricafrente,J.Y., Liu,W. and Gibbs,R.A.
  TITLE     A 'double adaptor' method for improved shotgun library construction
  JOURNAL   Anal. Biochem. 236 (1), 107-113 (1996)
  MEDLINE   96207227
   PUBMED   8619474
REFERENCE   9  (bases 1 to 1524)
  AUTHORS   Yu,W., Andersson,B., Worley,K.C., Muzny,D.M., Ding,Y., Liu,W.,
            Ricafrente,J.Y., Wentland,M.A., Lennon,G. and Gibbs,R.A.
  TITLE     Large-scale concatenation cDNA sequencing
  JOURNAL   Genome Res. 7 (4), 353-358 (1997)
  MEDLINE   97264341
   PUBMED   9110174
REFERENCE   10 (bases 1 to 1524)
  AUTHORS   Helluin,O., Chan,C., Vilaire,G., Mousa,S., DeGrado,W.F. and
            Bennett,J.S.
  TITLE     The activation state of alphavbeta 3 regulates platelet and
            lymphocyte adhesion to intact and thrombin-cleaved osteopontin
  JOURNAL   J. Biol. Chem. 275 (24), 18337-18343 (2000)
  MEDLINE   20309787
   PUBMED   10751402
REFERENCE   11 (bases 1 to 1524)
  AUTHORS   Jono,S., Peinado,C. and Giachelli,C.M.
  TITLE     Phosphorylation of osteopontin is required for inhibition of
            vascular smooth muscle cell calcification
  JOURNAL   J. Biol. Chem. 275 (26), 20197-20203 (2000)
  MEDLINE   20347938
   PUBMED   10766759
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF052124.1.
FEATURES             Location/Qualifiers
     source          1..1524
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21-q25"
                     /clone="I.M.A.G.E. Consortium clone ID 23810"
                     /sex="female"
                     /tissue_type="brain"
                     /clone_lib="1NIB"
                     /dev_stage="infant"
     gene            1..1524
                     /gene="SPP1"
                     /note="OPN; BNSP; BSPI; ETA-1"
                     /db_xref="LocusID:6696"
                     /db_xref="MIM:166490"
     CDS             88..990
                     /gene="SPP1"
                     /note="similar to Homo sapiens osteopontin encoded by
                     GenBank Accession Number J04765; Secreted phosphoprotein-1
                     (osteopontin, bone sialoprotein)"
                     /codon_start=1
                     /product="secreted phosphoprotein 1 (osteopontin, bone
                     sialoprotein I, early T-lymphocyte activation 1)"
                     /protein_id="NP_000573.1"
                     /db_xref="GI:4759166"
                     /db_xref="LocusID:6696"
                     /db_xref="MIM:166490"
                     /translation="MRIAVICFCLLGITCAIPVKQADSGSSEEKQLYNKYPDAVATWL
                     NPDPSQKQNLLAPQTLPSKSNESHDHMDDMDDEDDDDHVDSQDSIDSNDSDDVDDTDD
                     SHQSDESHHSDESDELVTDFPTDLPATEVFTPVVPTVDTYDGRGDSVVYGLRSKSKKF
                     RRPDIQYPDATDEDITSHMESEELNGAYKAIPVAQDLNAPSDWDSRGKDSYETSQLDD
                     QSAETHSHKQSRLYKRKANDESNEHSDVIDSQELSKVSREFHSHEFHSHEDMLVVDPK
                     SKEEDKHLKFRISHELDSASSEVN"
     misc_feature    88..987
                     /gene="SPP1"
                     /note="Region: pfam00865, Osteopontin, Osteopontin"
     misc_feature    136..987
                     /gene="SPP1"
                     /note="Region: smart00017, OSTEO, Osteopontin; Osteopontin
                     is an acidic phosphorylated glycoprotein of about 40 Kd
                     which is abundant in the mineral matrix of bones and which
                     binds tightly to hydroxyapatite. It is suggested that
                     osteopontin might function as a cell attachment factor and
                     could play a key role in the adhesion of osteoclasts to
                     the mineral matrix of bone"
     variation       327
                     /gene="SPP1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:4754"
     variation       795
                     /gene="SPP1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1126616"
     variation       947
                     /gene="SPP1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:4660"
     variation       1128
                     /gene="SPP1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1126772"
     variation       1235
                     /gene="SPP1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1126859"
     variation       1284
                     /gene="SPP1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:9138"
     variation       1306
                     /gene="SPP1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1126880"
     variation       1336
                     /gene="SPP1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1126893"
     variation       1423
                     /gene="SPP1"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3211530"
     variation       1426
                     /gene="SPP1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3211531"
BASE COUNT      485 a    308 c    309 g    422 t
ORIGIN      
        1 gcagagcaca gcatcgtcgg gaccagactc gtctcaggcc agttgcagcc ttctcagcca
       61 aacgccgacc aaggaaaact cactaccatg agaattgcag tgatttgctt ttgcctccta
      121 ggcatcacct gtgccatacc agttaaacag gctgattctg gaagttctga ggaaaagcag
      181 ctttacaaca aatacccaga tgctgtggcc acatggctaa accctgaccc atctcagaag
      241 cagaatctcc tagccccaca gacccttcca agtaagtcca acgaaagcca tgaccacatg
      301 gatgatatgg atgatgaaga tgatgatgac catgtggaca gccaggactc cattgactcg
      361 aacgactctg atgatgtaga tgacactgat gattctcacc agtctgatga gtctcaccat
      421 tctgatgaat ctgatgaact ggtcactgat tttcccacgg acctgccagc aaccgaagtt
      481 ttcactccag ttgtccccac agtagacaca tatgatggcc gaggtgatag tgtggtttat
      541 ggactgaggt caaaatctaa gaagtttcgc agacctgaca tccagtaccc tgatgctaca
      601 gacgaggaca tcacctcaca catggaaagc gaggagttga atggtgcata caaggccatc
      661 cccgttgccc aggacctgaa cgcgccttct gattgggaca gccgtgggaa ggacagttat
      721 gaaacgagtc agctggatga ccagagtgct gaaacccaca gccacaagca gtccagatta
      781 tataagcgga aagccaatga tgagagcaat gagcattccg atgtgattga tagtcaggaa
      841 ctttccaaag tcagccgtga attccacagc catgaatttc acagccatga agatatgctg
      901 gttgtagacc ccaaaagtaa ggaagaagat aaacacctga aatttcgtat ttctcatgaa
      961 ttagatagtg catcttctga ggtcaattaa aaggagaaaa aatacaattt ctcactttgc
     1021 atttagtcaa aagaaaaaat gctttatagc aaaatgaaag agaacatgaa atgcttcttt
     1081 ctcagtttat tggttgaatg tgtatctatt tgagtctgga aataactaat gtgtttgata
     1141 attagtttag tttgtggctt catggaaact ccctgtaaac taaaagcttc agggttatgt
     1201 ctatgttcat tctatagaag aaatgcaaac tatcactgta ttttaatatt tgttattctc
     1261 tcatgaatag aaatttatgt agaagcaaac aaaatacttt tacccactta aaaagagaat
     1321 ataacatttt atgtcactat aatcttttgt tttttaagtt agtgtatatt ttgttgtgat
     1381 tatctttttg tggtgtgaat aaatctttta tcttgaatgt aataagaatt tggtggtgtc
     1441 aattgcttat ttgttttccc acggttgtcc agcaattaat aaaacataac cttttttact
     1501 gcctaaaaaa aaaaaaaaaa aaaa
//



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1: NM_000355. Homo sapiens tran...[gi:21071009] Links  


LOCUS       TCN2                    1987 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens transcobalamin II; macrocytic anemia (TCN2), mRNA.
ACCESSION   NM_000355
VERSION     NM_000355.2  GI:21071009
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1987)
  AUTHORS   Quadros,E.V., Rothenberg,S.P., Pan,Y.C. and Stein,S.
  TITLE     Purification and molecular characterization of human transcobalamin
            II
  JOURNAL   J. Biol. Chem. 261 (33), 15455-15460 (1986)
  MEDLINE   87057168
   PUBMED   3782074
REFERENCE   2  (bases 1 to 1987)
  AUTHORS   Platica,O., Janeczko,R., Quadros,E.V., Regec,A., Romain,R. and
            Rothenberg,S.P.
  TITLE     The cDNA sequence and the deduced amino acid sequence of human
            transcobalamin II show homology with rat intrinsic factor and human
            transcobalamin I
  JOURNAL   J. Biol. Chem. 266 (12), 7860-7863 (1991)
  MEDLINE   91210312
   PUBMED   1708393
REFERENCE   3  (bases 1 to 1987)
  AUTHORS   Li,N., Seetharam,S., Lindemans,J., Alpers,D.H., Arwert,F. and
            Seetharam,B.
  TITLE     Isolation and sequence analysis of variant forms of human
            transcobalamin II
  JOURNAL   Biochim. Biophys. Acta 1172 (1-2), 21-30 (1993)
  MEDLINE   93176815
   PUBMED   8439564
REFERENCE   4  (bases 1 to 1987)
  AUTHORS   Quadros,E.V., Sai,P. and Rothenberg,S.P.
  TITLE     Functional human transcobalamin II isoproteins are secreted by
            insect cells using the baculovirus expression system
  JOURNAL   Blood 81 (5), 1239-1245 (1993)
  MEDLINE   93184316
   PUBMED   8443384
REFERENCE   5  (bases 1 to 1987)
  AUTHORS   Li,N., Seetharam,S. and Seetharam,B.
  TITLE     Genomic structure of human transcobalamin II: comparison to human
            intrinsic factor and transcobalamin I
  JOURNAL   Biochem. Biophys. Res. Commun. 208 (2), 756-764 (1995)
  MEDLINE   95209692
   PUBMED   7695633
REFERENCE   6  (bases 1 to 1987)
  AUTHORS   Regec,A., Quadros,E.V., Platica,O. and Rothenberg,S.P.
  TITLE     The cloning and characterization of the human transcobalamin II
            gene
  JOURNAL   Blood 85 (10), 2711-2719 (1995)
  MEDLINE   95261033
   PUBMED   7742531
REFERENCE   7  (bases 1 to 1987)
  AUTHORS   Namour,F., Olivier,J., Abdelmouttaleb,I., Adjalla,C., Debard,R.,
            Salvat,C. and Gueant,J.
  TITLE     Transcobalamin codon 259 polymorphism in HT-29 and Caco-2 cells and
            in Caucasians: relation to transcobalamin and homocysteine
            concentration in blood
  JOURNAL   Blood 97 (4), 1092-1098 (2001)
  MEDLINE   21093851
   PUBMED   11159542
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M60396.1 and AF047576.1.
            On May 22, 2002 this sequence version replaced gi:4507408.
            Summary: This gene encodes a member of the vitamin B12-binding
            protein family. This family of proteins, alternatively referred to
            as R binders, is expressed in various tissues and secretions. This
            plasma protein binds cobalamin and mediates the transport of
            cobalamin into cells. This protein and other mammalian
            cobalamin-binding proteins, such as transcobalamin I and gastric
            intrisic factor, may have evolved by duplication of a common
            ancestral gene.
FEATURES             Location/Qualifiers
     source          1..1987
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     gene            1..1987
                     /gene="TCN2"
                     /note="TC2"
                     /db_xref="LocusID:6948"
                     /db_xref="MIM:275350"
     CDS             159..1442
                     /gene="TCN2"
                     /codon_start=1
                     /product="transcobalamin II precursor"
                     /protein_id="NP_000346.2"
                     /db_xref="GI:21071010"
                     /db_xref="LocusID:6948"
                     /db_xref="MIM:275350"
                     /translation="MRHLGAFLFLLGVLGALTEMCEIPEMDSHLVEKLGQHLLPWMDR
                     LSLEHLNPSIYVGLRLSSLQAGTKEDLYLHSLKLGYQQCLLGSAFSEDDGDCQGKPSM
                     GQLALYLLALRANCEFVRGHKGDRLVSQLKWFLEDEKRAIGHDHKGHPHTSYYQYGLG
                     ILALCLHQKRVHDSVVDKLLYAVEPFHQGHHSVDTAAMAGLAFTCLKRSNFNPGRRQR
                     ITMAIRTVREEILKAQTPEGHFGNVYSTPLALQFLMTSPMRGAELGTACLKARVALLA
                     SLQDGAFQNALMISQLLPVLNHKTYIDLIFPDCLAPRVMLEPAAETIPQTQEIISVTL
                     QVLSLLPPYRQSISVLAGSTVEDVLKKAHELGGFTYETQASLSGPYLTSVMGKAAGER
                     EFWQLLRDPNTPLLQGIADYRPKDGETIELRLVSW"
     sig_peptide     159..212
                     /gene="TCN2"
     misc_feature    210..1439
                     /gene="TCN2"
                     /note="Region: pfam01122, Cobalamin_bind, Eukaryotic
                     cobalamin-binding protein"
     mat_peptide     213..1439
                     /gene="TCN2"
                     /product="transcobalamin II"
     variation       1285
                     /gene="TCN2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1131603"
     variation       1285
                     /gene="TCN2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3191656"
     variation       1667
                     /gene="TCN2"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:2072195"
     variation       1744
                     /gene="TCN2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1032"
     variation       1756
                     /gene="TCN2"
                     /allele="-"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:892"
     variation       1886
                     /gene="TCN2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:10418"
     polyA_signal    1953..1958
                     /gene="TCN2"
     polyA_site      1981
                     /gene="TCN2"
                     /evidence=experimental
BASE COUNT      421 a    605 c    542 g    419 t
ORIGIN      
        1 gcagacttag ccgtgcattg caggcatgga ggattaatca gtgacaggaa gctgcgtctc
       61 tcggagcggt gaccagctgt ggtcaggaga gcctcagcag ggccagcccc aggagtcttt
      121 cccgattctt gctcactgct cacccacctg ctgctgccat gaggcacctt ggggccttcc
      181 tcttccttct gggggtcctg ggggccctca ctgagatgtg tgaaatacca gagatggaca
      241 gccatctggt agagaagttg ggccagcacc tcttaccttg gatggaccgg ctttccctgg
      301 agcacttgaa ccccagcatc tatgtgggcc tacgcctctc cagtctgcag gctgggacca
      361 aggaagacct ctacctgcac agcctcaagc ttggttacca gcagtgcctc ctagggtctg
      421 ccttcagcga ggatgacggt gactgccagg gcaagccttc catgggccag ctggccctct
      481 acctgctcgc tctcagagcc aactgtgagt ttgtcagggg ccacaagggg gacaggctgg
      541 tctcacagct caaatggttc ctggaggatg agaagagagc cattgggcat gatcacaagg
      601 gccaccccca cactagctac taccagtatg gcctgggcat tctggccctg tgtctccacc
      661 agaagcgggt ccatgacagc gtggtggaca aacttctgta tgctgtggaa cctttccacc
      721 agggccacca ttctgtggac acagcagcca tggcaggctt ggcattcacc tgtctgaagc
      781 gctcaaactt caaccctggt cggagacaac ggatcaccat ggccatcaga acagtgcgag
      841 aggagatctt gaaggcccag acccccgagg gccactttgg gaatgtctac agcaccccat
      901 tggcattaca gttcctcatg acttccccca tgcgtggggc agaactggga acagcatgtc
      961 tcaaggcgag ggttgctttg ctggccagtc tgcaggatgg agccttccag aatgctctca
     1021 tgatttccca gctgctgccc gttctgaacc acaagaccta cattgatctg atcttcccag
     1081 actgtctggc accacgagtc atgttggaac cagctgctga gaccattcct cagacccaag
     1141 agatcatcag tgtcacgctg caggtgctta gtctcttgcc gccgtacaga cagtccatct
     1201 ctgttctggc cgggtccacc gtggaagatg tcctgaagaa ggcccatgag ttaggaggat
     1261 tcacatatga aacacaggcc tccttgtcag gcccctactt aacctccgtg atggggaaag
     1321 cggccggaga aagggagttc tggcagcttc tccgagaccc caacacccca ctgttgcaag
     1381 gtattgctga ctacagaccc aaggatggag aaaccattga gctgaggctg gttagctggt
     1441 agcccctgag ctccctcatc ccagcagcct cgcacactcc ctaggcttct accctccctc
     1501 ctgatgtccc tggaacagga actcgcctga ccctgctgcc acctcctgtg cactttgagc
     1561 aatgccccct gggatcaccc cagccacaag cccttcgagg gccctatacc atggcccacc
     1621 ttggagcaga gagccaagca tcttccctgg gaagtctttc tggccaagtc tggccagcct
     1681 ggccctgcag gtctcccatg aaggccaccc catggtctga tgggcatgaa gcatctcaga
     1741 ctccttggca aaaaacggag tccgcaggcc gcaggtgttg tgaagaccac tcgttctgtg
     1801 gttggggtcc tgcaagaagg cctcctcagc ccgggggcta tggccctgac cccagctctc
     1861 cactctgctg ttagagtggc agctccgagc tggttgtggc acagtagctg gggagacctc
     1921 agcagggctg ctcagtgcct gcctctgaca aaattaaagc attgatggcc tgtggacctg
     1981 caaaaaa
//



Revised: July 5, 2002.
 
 


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NCBI | NLM | NIH 

 

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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_000604. Homo sapiens fibr...[gi:13186232] Links  


LOCUS       FGFR1                   4049 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens fibroblast growth factor receptor 1 (fms-related
            tyrosine kinase 2, Pfeiffer syndrome) (FGFR1), transcript variant
            1, mRNA.
ACCESSION   NM_000604
VERSION     NM_000604.2  GI:13186232
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4049)
  AUTHORS   Ruta,M., Burgess,W., Givol,D., Epstein,J., Neiger,N., Kaplow,J.,
            Crumley,G., Dionne,C., Jaye,M. and Schlessinger,J.
  TITLE     Receptor for acidic fibroblast growth factor is related to the
            tyrosine kinase encoded by the fms-like gene (FLG)
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 86 (22), 8722-8726 (1989)
  MEDLINE   90046865
   PUBMED   2554327
REFERENCE   2  (bases 1 to 4049)
  AUTHORS   Isacchi,A., Bergonzoni,L. and Sarmientos,P.
  TITLE     Complete sequence of a human receptor for acidic and basic
            fibroblast growth factors
  JOURNAL   Nucleic Acids Res. 18 (7), 1906 (1990)
  MEDLINE   90245600
   PUBMED   2159626
REFERENCE   3  (bases 1 to 4049)
  AUTHORS   Itoh,N., Terachi,T., Ohta,M. and Seo,M.K.
  TITLE     The complete amino acid sequence of the shorter form of human basic
            fibroblast growth factor receptor deduced from its cDNA
  JOURNAL   Biochem. Biophys. Res. Commun. 169 (2), 680-685 (1990)
  MEDLINE   90290512
   PUBMED   2162671
REFERENCE   4  (bases 1 to 4049)
  AUTHORS   Dionne,C.A., Crumley,G., Bellot,F., Kaplow,J.M., Searfoss,G.,
            Ruta,M., Burgess,W.H., Jaye,M. and Schlessinger,J.
  TITLE     Cloning and expression of two distinct high-affinity receptors
            cross-reacting with acidic and basic fibroblast growth factors
  JOURNAL   EMBO J. 9 (9), 2685-2692 (1990)
  MEDLINE   90360977
   PUBMED   1697263
REFERENCE   5  (bases 1 to 4049)
  AUTHORS   Johnson,D.E., Lee,P.L., Lu,J. and Williams,L.T.
  TITLE     Diverse forms of a receptor for acidic and basic fibroblast growth
            factors
  JOURNAL   Mol. Cell. Biol. 10 (9), 4728-4736 (1990)
  MEDLINE   90355989
   PUBMED   2167437
REFERENCE   6  (bases 1 to 4049)
  AUTHORS   Hou,J.Z., Kan,M.K., McKeehan,K., McBride,G., Adams,P. and
            McKeehan,W.L.
  TITLE     Fibroblast growth factor receptors from liver vary in three
            structural domains
  JOURNAL   Science 251 (4994), 665-668 (1991)
  MEDLINE   91126480
   PUBMED   1846977
REFERENCE   7  (bases 1 to 4049)
  AUTHORS   Eisemann,A., Ahn,J.A., Graziani,G., Tronick,S.R. and Ron,D.
  TITLE     Alternative splicing generates at least five different isoforms of
            the human basic-FGF receptor
  JOURNAL   Oncogene 6 (7), 1195-1202 (1991)
  MEDLINE   91319400
   PUBMED   1650441
REFERENCE   8  (bases 1 to 4049)
  AUTHORS   Johnson,D.E., Lu,J., Chen,H., Werner,S. and Williams,L.T.
  TITLE     The human fibroblast growth factor receptor genes: a common
            structural arrangement underlies the mechanisms for generating
            receptor forms that differ in their third immunoglobulin domain
  JOURNAL   Mol. Cell. Biol. 11 (9), 4627-4634 (1991)
  MEDLINE   91342665
   PUBMED   1652059
REFERENCE   9  (bases 1 to 4049)
  AUTHORS   Crumley,G., Bellot,F., Kaplow,J.M., Schlessinger,J., Jaye,M. and
            Dionne,C.A.
  TITLE     High-affinity binding and activation of a truncated FGF receptor by
            both aFGF and bFGF
  JOURNAL   Oncogene 6 (12), 2255-2262 (1991)
  MEDLINE   92115326
   PUBMED   1722570
REFERENCE   10 (bases 1 to 4049)
  AUTHORS   Wennstrom,S., Sandstrom,C. and Claesson-Welsh,L.
  TITLE     cDNA cloning and expression of a human FGF receptor which binds
            acidic and basic FGF
  JOURNAL   Growth Factors 4 (3), 197-208 (1991)
  MEDLINE   92118394
   PUBMED   1722683
REFERENCE   11 (bases 1 to 4049)
  AUTHORS   Hattori,Y., Odagiri,H., Katoh,O., Sakamoto,H., Morita,T.,
            Shimotohno,K., Tobinai,K., Sugimura,T. and Terada,M.
  TITLE     K-sam-related gene, N-sam, encodes fibroblast growth factor
            receptor and is expressed in T-lymphocytic tumors
  JOURNAL   Cancer Res. 52 (12), 3367-3371 (1992)
  MEDLINE   92282615
   PUBMED   1317750
REFERENCE   12 (bases 1 to 4049)
  AUTHORS   Johnson,D.E. and Williams,L.T.
  TITLE     Structural and functional diversity in the FGF receptor multigene
            family
  JOURNAL   Adv. Cancer Res. 60, 1-41 (1993)
  MEDLINE   93111178
   PUBMED   8417497
REFERENCE   13 (bases 1 to 4049)
  AUTHORS   Muenke,M., Schell,U., Hehr,A., Robin,N.H., Losken,H.W.,
            Schinzel,A., Pulleyn,L.J., Rutland,P., Reardon,W., Malcolm,S. et
            al.
  TITLE     A common mutation in the fibroblast growth factor receptor 1 gene
            in Pfeiffer syndrome
  JOURNAL   Nat. Genet. 8 (3), 269-274 (1994)
  MEDLINE   95179173
   PUBMED   7874169
REFERENCE   14 (bases 1 to 4049)
  AUTHORS   Wood,S., Schertzer,M. and Yaremko,M.L.
  TITLE     Sequence identity locates CEBPD and FGFR1 to mapped human loci
            within proximal 8p
  JOURNAL   Cytogenet. Cell Genet. 70 (3-4), 188-191 (1995)
  MEDLINE   95309017
   PUBMED   7789168
REFERENCE   15 (bases 1 to 4049)
  AUTHORS   Wang,L.Y., Edenson,S.P., Yu,Y.L., Senderowicz,L. and Turck,C.W.
  TITLE     A natural kinase-deficient variant of fibroblast growth factor
            receptor 1
  JOURNAL   Biochemistry (N.Y.) 35 (31), 10134-10142 (1996)
  MEDLINE   96322333
   PUBMED   8756477
REFERENCE   16 (bases 1 to 4049)
  AUTHORS   Lopez,M.E. and Korc,M.
  TITLE     A novel type I fibroblast growth factor receptor activates
            mitogenic signaling in the absence of detectable tyrosine
            phosphorylation of FRS2
  JOURNAL   J. Biol. Chem. 275 (21), 15933-15939 (2000)
  MEDLINE   20283622
   PUBMED   10748122
REFERENCE   17 (bases 1 to 4049)
  AUTHORS   Hart,K.C., Robertson,S.C., Kanemitsu,M.Y., Meyer,A.N., Tynan,J.A.
            and Donoghue,D.J.
  TITLE     Transformation and Stat activation by derivatives of FGFR1, FGFR3,
            and FGFR4
  JOURNAL   Oncogene 19 (29), 3309-3320 (2000)
  MEDLINE   20374012
   PUBMED   10918587
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X66945.1 and M34641.1.
            On Mar 2, 2001 this sequence version replaced gi:11276086.
            Summary: The protein encoded by this gene is a member of the
            fibroblast growth factor receptor family, where amino acid sequence
            is highly conserved between members and throughout evolution. FGFR
            family members differ from one another in their ligand affinities
            and tissue distribution. A full-length representative protein
            consists of an extracellular region, composed of three
            immunoglobulin-like domains, a single hydrophobic membrane-spanning
            segment and a cytoplasmic tyrosine kinase domain. The extracellular
            portion of the protein interacts with fibroblast growth factors,
            setting in motion a cascade of downstream signals, ultimately
            influencing mitogenesis and differentiation. This particular family
            member binds both acidic and basic fibroblast growth factors and is
            involved in limb induction. Mutations in this gene can lead to
            Pfeiffer syndrome and Jackson-Weiss syndrome. The genomic
            organization of this gene is very similar to family members 2-4,
            encompassing 19 exons that are subject to complex alternative
            splicing, which allows for structural, tissue expression and ligand
            affinity variations among the isoforms.
            Transcript Variant: This variant (1) uses alternatively spliced
            exon 9 to encode the IIIc-type carboxyl terminus for the third Ig
            domain, resulting in the longest isoform (1).
FEATURES             Location/Qualifiers
     source          1..4049
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.2-p11.1"
     gene            1..4049
                     /gene="FGFR1"
                     /note="H2; H3; H4; H5; CEK; FLG; FLT2; BFGFR; C-FGR;
                     N-SAM"
                     /db_xref="LocusID:2260"
                     /db_xref="MIM:136350"
     variation       342
                     /gene="FGFR1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2467531"
     CDS             727..3195
                     /gene="FGFR1"
                     /EC_number="2.7.1.112"
                     /note="isoform 1 is encoded by transcript variant 1;
                     fms-related tyrosine kinase-2; heparin-binding growth
                     factor receptor; FMS-like tyrosine kinase 2; basic
                     fibroblast growth factor receptor 1; N-sam tyrosine
                     kinase; FLG protein; protein-tyrosine kinase;
                     tyrosylprotein kinase; hydroxyaryl-protein kinase"
                     /codon_start=1
                     /product="fibroblast growth factor receptor 1 isoform 1
                     precursor"
                     /protein_id="NP_000595.1"
                     /db_xref="GI:11276087"
                     /db_xref="LocusID:2260"
                     /db_xref="MIM:136350"
                     /translation="MWSWKCLLFWAVLVTATLCTARPSPTLPEQAQPWGAPVEVESFL
                     VHPGDLLQLRCRLRDDVQSINWLRDGVQLAESNRTRITGEEVEVQDSVPADSGLYACV
                     TSSPSGSDTTYFSVNVSDALPSSEDDDDDDDSSSEEKETDNTKPNRMPVAPYWTSPEK
                     MEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMD
                     SVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFM
                     CKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFE
                     DAGEYTCLAGNSIGLSHHSAWLTVLEALEERPAVMTSPLYLEIIIYCTGAFLISCMVG
                     SVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVTVSADSSASMNSGVLLVRPSRLS
                     SSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRV
                     TKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASK
                     GNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKCIHRDL
                     AARNVLVTEDNVMKIADFGLARDIHHIDYYKKTTNGRLPVKWMAPEALFDRIYTHQSD
                     VWSFGVLLWEIFTLGGSPYPGVPVEELFKLLKEGHRMDKPSNCTNELYMMMRDCWHAV
                     PSQRPTFKQLVEDLDRIVALTSNQEYLDLSMPLDQYSPSFPDTRSSTCSSGEDSVFSH
                     EPLPEEPCLPRHPAQLANGGLKRR"
     sig_peptide     727..789
                     /gene="FGFR1"
     mat_peptide     790..3192
                     /gene="FGFR1"
                     /product="fibroblast growth factor receptor 1, isoform 1"
     misc_feature    907..1050
                     /gene="FGFR1"
                     /note="Region: smart00408, IGc2, Immunoglobulin C-2 Type"
     misc_feature    1228..1467
                     /gene="FGFR1"
                     /note="Region: smart00409, IG, Immunoglobulin"
     misc_feature    1240..1422
                     /gene="FGFR1"
                     /note="Region: pfam00047, ig, Immunoglobulin domain.
                     Members of the immunoglobulin superfamily are found in
                     hundreds of proteins of different functions. Examples
                     include antibodies, the giant muscle kinase titin and
                     receptor tyrosine kinases. Immunoglobulin-like domains may
                     be involved in protein-protein and protein-ligand
                     interactions. The Pfam alignments do not include the first
                     and last strand of the immunoglobulin-like domain"
     misc_feature    1243..1437
                     /gene="FGFR1"
                     /note="Region: smart00408, IGc2, Immunoglobulin C-2 Type"
     misc_feature    1510..1803
                     /gene="FGFR1"
                     /note="Region: smart00409, IG, Immunoglobulin"
     misc_feature    1534..1770
                     /gene="FGFR1"
                     /note="Region: smart00408, IGc2, Immunoglobulin C-2 Type"
     misc_feature    1534..1755
                     /gene="FGFR1"
                     /note="Region: pfam00047, ig, Immunoglobulin domain.
                     Members of the immunoglobulin superfamily are found in
                     hundreds of proteins of different functions. Examples
                     include antibodies, the giant muscle kinase titin and
                     receptor tyrosine kinases. Immunoglobulin-like domains may
                     be involved in protein-protein and protein-ligand
                     interactions. The Pfam alignments do not include the first
                     and last strand of the immunoglobulin-like domain"
     misc_feature    2158..2988
                     /gene="FGFR1"
                     /note="Region: pfam00069, pkinase, Protein kinase domain"
     misc_feature    2158..2988
                     /gene="FGFR1"
                     /note="Region: smart00219, TyrKc, Tyrosine kinase,
                     catalytic domain; Phosphotransferases. Tyrosine-specific
                     kinase subfamily"
     misc_feature    2164..2985
                     /gene="FGFR1"
                     /note="Region: smart00220, S_TKc, erine/Threonine protein
                     kinases, catalytic domain; Phosphotransferases. Serine or
                     threonine-specific kinase subfamily"
     variation       1488
                     /gene="FGFR1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1126484"
     variation       1488
                     /gene="FGFR1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3181537"
     variation       1649
                     /gene="FGFR1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1126485"
     variation       3920
                     /gene="FGFR1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1803197"
BASE COUNT      871 a   1211 c   1183 g    784 t
ORIGIN      
        1 cctcttgcgg ccacaggcgc ggcgtcctcg gcggcgggcg gcagctagcg ggagccggga
       61 cgccggtgca gccgcagcgc gcggaggaac ccgggtgtgc cgggagctgg gcggccacgt
      121 ccggacggga ccgagacccc tcgtagcgca ttgcggcgac ctcgccttcc ccggccgcga
      181 gcgcgccgct gcttgaaaag ccgcggaacc caaggacttt tctccggtcc gagctcgggg
      241 cgccccgcag gcgcacggta cccgtgctgc agtcgggcac gccgcggcgc cgggggcctc
      301 cgcagggcga tggagccggt ctgcaaggaa agtgaggcgc cgccgctgcg ttctggagga
      361 ggggggcaca aggtctggag accccgggtg gcggacggga gccctccccc cgccccgcct
      421 ccggggcacc agctccggct ccattgttcc cgcccgggct ggaggcgccg agcaccgagc
      481 gccgccggga gtcgagcgcc ggccgcggag ctcttgcgac cccgccagga cccgaacaga
      541 gcccgggggc ggcgggccgg agccggggac gcgggcacac gcccgctcgc acaagccacg
      601 gcggactctc ccgaggcgga acctccacgc cgagcgaggg tcagtttgaa aaggaggatc
      661 gagctcactg tggagtatcc atggagatgt ggagccttgt caccaacctc taactgcaga
      721 actgggatgt ggagctggaa gtgcctcctc ttctgggctg tgctggtcac agccacactc
      781 tgcaccgcta ggccgtcccc gaccttgcct gaacaagccc agccctgggg agcccctgtg
      841 gaagtggagt ccttcctggt ccaccccggt gacctgctgc agcttcgctg tcggctgcgg
      901 gacgatgtgc agagcatcaa ctggctgcgg gacggggtgc agctggcgga aagcaaccgc
      961 acccgcatca caggggagga ggtggaggtg caggactccg tgcccgcaga ctccggcctc
     1021 tatgcttgcg taaccagcag cccctcgggc agtgacacca cctacttctc cgtcaatgtt
     1081 tcagatgctc tcccctcctc ggaggatgat gatgatgatg atgactcctc ttcagaggag
     1141 aaagaaacag ataacaccaa accaaaccgt atgcccgtag ctccatattg gacatcccca
     1201 gaaaagatgg aaaagaaatt gcatgcagtg ccggctgcca agacagtgaa gttcaaatgc
     1261 ccttccagtg ggaccccaaa ccccacactg cgctggttga aaaatggcaa agaattcaaa
     1321 cctgaccaca gaattggagg ctacaaggtc cgttatgcca cctggagcat cataatggac
     1381 tctgtggtgc cctctgacaa gggcaactac acctgcattg tggagaatga gtacggcagc
     1441 atcaaccaca cataccagct ggatgtcgtg gagcggtccc ctcaccggcc catcctgcaa
     1501 gcagggttgc ccgccaacaa aacagtggcc ctgggtagca acgtggagtt catgtgtaag
     1561 gtgtacagtg acccgcagcc gcacatccag tggctaaagc acatcgaggt gaatgggagc
     1621 aagattggcc cagacaacct gccttatgtc cagatcttga agactgctgg agttaatacc
     1681 accgacaaag agatggaggt gcttcactta agaaatgtct cctttgagga cgcaggggag
     1741 tatacgtgct tggcgggtaa ctctatcgga ctctcccatc actctgcatg gttgaccgtt
     1801 ctggaagccc tggaagagag gccggcagtg atgacctcgc ccctgtacct ggagatcatc
     1861 atctattgca caggggcctt cctcatctcc tgcatggtgg ggtcggtcat cgtctacaag
     1921 atgaagagtg gtaccaagaa gagtgacttc cacagccaga tggctgtgca caagctggcc
     1981 aagagcatcc ctctgcgcag acaggtaaca gtgtctgctg actccagtgc atccatgaac
     2041 tctggggttc ttctggttcg gccatcacgg ctctcctcca gtgggactcc catgctagca
     2101 ggggtctctg agtatgagct tcccgaagac cctcgctggg agctgcctcg ggacagactg
     2161 gtcttaggca aacccctggg agagggctgc tttgggcagg tggtgttggc agaggctatc
     2221 gggctggaca aggacaaacc caaccgtgtg accaaagtgg ctgtgaagat gttgaagtcg
     2281 gacgcaacag agaaagactt gtcagacctg atctcagaaa tggagatgat gaagatgatc
     2341 gggaagcata agaatatcat caacctgctg ggggcctgca cgcaggatgg tcccttgtat
     2401 gtcatcgtgg agtatgcctc caagggcaac ctgcgggagt acctgcaggc ccggaggccc
     2461 ccagggctgg aatactgcta caaccccagc cacaacccag aggagcagct ctcctccaag
     2521 gacctggtgt cctgcgccta ccaggtggcc cgaggcatgg agtatctggc ctccaagaag
     2581 tgcatacacc gagacctggc agccaggaat gtcctggtga cagaggacaa tgtgatgaag
     2641 atagcagact ttggcctcgc acgggacatt caccacatcg actactataa aaagacaacc
     2701 aacggccgac tgcctgtgaa gtggatggca cccgaggcat tatttgaccg gatctacacc
     2761 caccagagtg atgtgtggtc tttcggggtg ctcctgtggg agatcttcac tctgggcggc
     2821 tccccatacc ccggtgtgcc tgtggaggaa cttttcaagc tgctgaagga gggtcaccgc
     2881 atggacaagc ccagtaactg caccaacgag ctgtacatga tgatgcggga ctgctggcat
     2941 gcagtgccct cacagagacc caccttcaag cagctggtgg aagacctgga ccgcatcgtg
     3001 gccttgacct ccaaccagga gtacctggac ctgtccatgc ccctggacca gtactccccc
     3061 agctttcccg acacccggag ctctacgtgc tcctcagggg aggattccgt cttctctcat
     3121 gagccgctgc ccgaggagcc ctgcctgccc cgacacccag cccagcttgc caatggcgga
     3181 ctcaaacgcc gctgactgcc acccacacgc cctccccaga ctccaccgtc agctgtaacc
     3241 ctcacccaca gcccctgctg ggcccaccac ctgtccgtcc ctgtcccctt tcctgctggc
     3301 aggagccggc tgcctaccag gggccttcct gtgtggcctg ccttcacccc actcagctca
     3361 cctctccctc cacctcctct ccacctgctg gtgagaggtg caaagaggca gatctttgct
     3421 gccagccact tcatcccctc ccagatgttg gaccaacacc cctccctgcc accaggcact
     3481 gcctggaggg cagggagtgg gagccaatga acaggcatgc aagtgagagc ttcctgagct
     3541 ttctcctgtc ggtttggtct gttttgcctt cacccataag cccctcgcac tctggtggca
     3601 ggtgccttgt cctcagggct acagcagtag ggaggtcagt gcttcgtgcc tcgattgaag
     3661 gtgacctctg ccccagatag gtggtgccag tggcttatta attccgatac tagtttgctt
     3721 tgctgaccaa atgcctggta ccagaggatg gtgaggcgaa ggccaggttg ggggcagtgt
     3781 tgtggccctg gggcccagcc ccaaactggg ggctctgtat atagctatga agaaaacaca
     3841 aagtgtataa atctgagtat atatttacat gtctttttaa aagggtcgtt accagagatt
     3901 tacccatcgg gtaagatgct cctggtggct gggaggcatc agttgctata tattaaaaac
     3961 aaaaaagaaa aaaaaggaaa atgtttttaa aaaggtcata tattttttgc tacttttgct
     4021 gttttatttt tttaaattat gttctaaac
//



Revised: July 5, 2002.
 
 


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1: NM_000604. Homo sapiens fibr...[gi:13186232] Links  


LOCUS       FGFR1                   4049 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens fibroblast growth factor receptor 1 (fms-related
            tyrosine kinase 2, Pfeiffer syndrome) (FGFR1), transcript variant
            1, mRNA.
ACCESSION   NM_000604
VERSION     NM_000604.2  GI:13186232
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4049)
  AUTHORS   Ruta,M., Burgess,W., Givol,D., Epstein,J., Neiger,N., Kaplow,J.,
            Crumley,G., Dionne,C., Jaye,M. and Schlessinger,J.
  TITLE     Receptor for acidic fibroblast growth factor is related to the
            tyrosine kinase encoded by the fms-like gene (FLG)
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 86 (22), 8722-8726 (1989)
  MEDLINE   90046865
   PUBMED   2554327
REFERENCE   2  (bases 1 to 4049)
  AUTHORS   Isacchi,A., Bergonzoni,L. and Sarmientos,P.
  TITLE     Complete sequence of a human receptor for acidic and basic
            fibroblast growth factors
  JOURNAL   Nucleic Acids Res. 18 (7), 1906 (1990)
  MEDLINE   90245600
   PUBMED   2159626
REFERENCE   3  (bases 1 to 4049)
  AUTHORS   Itoh,N., Terachi,T., Ohta,M. and Seo,M.K.
  TITLE     The complete amino acid sequence of the shorter form of human basic
            fibroblast growth factor receptor deduced from its cDNA
  JOURNAL   Biochem. Biophys. Res. Commun. 169 (2), 680-685 (1990)
  MEDLINE   90290512
   PUBMED   2162671
REFERENCE   4  (bases 1 to 4049)
  AUTHORS   Dionne,C.A., Crumley,G., Bellot,F., Kaplow,J.M., Searfoss,G.,
            Ruta,M., Burgess,W.H., Jaye,M. and Schlessinger,J.
  TITLE     Cloning and expression of two distinct high-affinity receptors
            cross-reacting with acidic and basic fibroblast growth factors
  JOURNAL   EMBO J. 9 (9), 2685-2692 (1990)
  MEDLINE   90360977
   PUBMED   1697263
REFERENCE   5  (bases 1 to 4049)
  AUTHORS   Johnson,D.E., Lee,P.L., Lu,J. and Williams,L.T.
  TITLE     Diverse forms of a receptor for acidic and basic fibroblast growth
            factors
  JOURNAL   Mol. Cell. Biol. 10 (9), 4728-4736 (1990)
  MEDLINE   90355989
   PUBMED   2167437
REFERENCE   6  (bases 1 to 4049)
  AUTHORS   Hou,J.Z., Kan,M.K., McKeehan,K., McBride,G., Adams,P. and
            McKeehan,W.L.
  TITLE     Fibroblast growth factor receptors from liver vary in three
            structural domains
  JOURNAL   Science 251 (4994), 665-668 (1991)
  MEDLINE   91126480
   PUBMED   1846977
REFERENCE   7  (bases 1 to 4049)
  AUTHORS   Eisemann,A., Ahn,J.A., Graziani,G., Tronick,S.R. and Ron,D.
  TITLE     Alternative splicing generates at least five different isoforms of
            the human basic-FGF receptor
  JOURNAL   Oncogene 6 (7), 1195-1202 (1991)
  MEDLINE   91319400
   PUBMED   1650441
REFERENCE   8  (bases 1 to 4049)
  AUTHORS   Johnson,D.E., Lu,J., Chen,H., Werner,S. and Williams,L.T.
  TITLE     The human fibroblast growth factor receptor genes: a common
            structural arrangement underlies the mechanisms for generating
            receptor forms that differ in their third immunoglobulin domain
  JOURNAL   Mol. Cell. Biol. 11 (9), 4627-4634 (1991)
  MEDLINE   91342665
   PUBMED   1652059
REFERENCE   9  (bases 1 to 4049)
  AUTHORS   Crumley,G., Bellot,F., Kaplow,J.M., Schlessinger,J., Jaye,M. and
            Dionne,C.A.
  TITLE     High-affinity binding and activation of a truncated FGF receptor by
            both aFGF and bFGF
  JOURNAL   Oncogene 6 (12), 2255-2262 (1991)
  MEDLINE   92115326
   PUBMED   1722570
REFERENCE   10 (bases 1 to 4049)
  AUTHORS   Wennstrom,S., Sandstrom,C. and Claesson-Welsh,L.
  TITLE     cDNA cloning and expression of a human FGF receptor which binds
            acidic and basic FGF
  JOURNAL   Growth Factors 4 (3), 197-208 (1991)
  MEDLINE   92118394
   PUBMED   1722683
REFERENCE   11 (bases 1 to 4049)
  AUTHORS   Hattori,Y., Odagiri,H., Katoh,O., Sakamoto,H., Morita,T.,
            Shimotohno,K., Tobinai,K., Sugimura,T. and Terada,M.
  TITLE     K-sam-related gene, N-sam, encodes fibroblast growth factor
            receptor and is expressed in T-lymphocytic tumors
  JOURNAL   Cancer Res. 52 (12), 3367-3371 (1992)
  MEDLINE   92282615
   PUBMED   1317750
REFERENCE   12 (bases 1 to 4049)
  AUTHORS   Johnson,D.E. and Williams,L.T.
  TITLE     Structural and functional diversity in the FGF receptor multigene
            family
  JOURNAL   Adv. Cancer Res. 60, 1-41 (1993)
  MEDLINE   93111178
   PUBMED   8417497
REFERENCE   13 (bases 1 to 4049)
  AUTHORS   Muenke,M., Schell,U., Hehr,A., Robin,N.H., Losken,H.W.,
            Schinzel,A., Pulleyn,L.J., Rutland,P., Reardon,W., Malcolm,S. et
            al.
  TITLE     A common mutation in the fibroblast growth factor receptor 1 gene
            in Pfeiffer syndrome
  JOURNAL   Nat. Genet. 8 (3), 269-274 (1994)
  MEDLINE   95179173
   PUBMED   7874169
REFERENCE   14 (bases 1 to 4049)
  AUTHORS   Wood,S., Schertzer,M. and Yaremko,M.L.
  TITLE     Sequence identity locates CEBPD and FGFR1 to mapped human loci
            within proximal 8p
  JOURNAL   Cytogenet. Cell Genet. 70 (3-4), 188-191 (1995)
  MEDLINE   95309017
   PUBMED   7789168
REFERENCE   15 (bases 1 to 4049)
  AUTHORS   Wang,L.Y., Edenson,S.P., Yu,Y.L., Senderowicz,L. and Turck,C.W.
  TITLE     A natural kinase-deficient variant of fibroblast growth factor
            receptor 1
  JOURNAL   Biochemistry (N.Y.) 35 (31), 10134-10142 (1996)
  MEDLINE   96322333
   PUBMED   8756477
REFERENCE   16 (bases 1 to 4049)
  AUTHORS   Lopez,M.E. and Korc,M.
  TITLE     A novel type I fibroblast growth factor receptor activates
            mitogenic signaling in the absence of detectable tyrosine
            phosphorylation of FRS2
  JOURNAL   J. Biol. Chem. 275 (21), 15933-15939 (2000)
  MEDLINE   20283622
   PUBMED   10748122
REFERENCE   17 (bases 1 to 4049)
  AUTHORS   Hart,K.C., Robertson,S.C., Kanemitsu,M.Y., Meyer,A.N., Tynan,J.A.
            and Donoghue,D.J.
  TITLE     Transformation and Stat activation by derivatives of FGFR1, FGFR3,
            and FGFR4
  JOURNAL   Oncogene 19 (29), 3309-3320 (2000)
  MEDLINE   20374012
   PUBMED   10918587
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X66945.1 and M34641.1.
            On Mar 2, 2001 this sequence version replaced gi:11276086.
            Summary: The protein encoded by this gene is a member of the
            fibroblast growth factor receptor family, where amino acid sequence
            is highly conserved between members and throughout evolution. FGFR
            family members differ from one another in their ligand affinities
            and tissue distribution. A full-length representative protein
            consists of an extracellular region, composed of three
            immunoglobulin-like domains, a single hydrophobic membrane-spanning
            segment and a cytoplasmic tyrosine kinase domain. The extracellular
            portion of the protein interacts with fibroblast growth factors,
            setting in motion a cascade of downstream signals, ultimately
            influencing mitogenesis and differentiation. This particular family
            member binds both acidic and basic fibroblast growth factors and is
            involved in limb induction. Mutations in this gene can lead to
            Pfeiffer syndrome and Jackson-Weiss syndrome. The genomic
            organization of this gene is very similar to family members 2-4,
            encompassing 19 exons that are subject to complex alternative
            splicing, which allows for structural, tissue expression and ligand
            affinity variations among the isoforms.
            Transcript Variant: This variant (1) uses alternatively spliced
            exon 9 to encode the IIIc-type carboxyl terminus for the third Ig
            domain, resulting in the longest isoform (1).
FEATURES             Location/Qualifiers
     source          1..4049
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.2-p11.1"
     gene            1..4049
                     /gene="FGFR1"
                     /note="H2; H3; H4; H5; CEK; FLG; FLT2; BFGFR; C-FGR;
                     N-SAM"
                     /db_xref="LocusID:2260"
                     /db_xref="MIM:136350"
     variation       342
                     /gene="FGFR1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2467531"
     CDS             727..3195
                     /gene="FGFR1"
                     /EC_number="2.7.1.112"
                     /note="isoform 1 is encoded by transcript variant 1;
                     fms-related tyrosine kinase-2; heparin-binding growth
                     factor receptor; FMS-like tyrosine kinase 2; basic
                     fibroblast growth factor receptor 1; N-sam tyrosine
                     kinase; FLG protein; protein-tyrosine kinase;
                     tyrosylprotein kinase; hydroxyaryl-protein kinase"
                     /codon_start=1
                     /product="fibroblast growth factor receptor 1 isoform 1
                     precursor"
                     /protein_id="NP_000595.1"
                     /db_xref="GI:11276087"
                     /db_xref="LocusID:2260"
                     /db_xref="MIM:136350"
                     /translation="MWSWKCLLFWAVLVTATLCTARPSPTLPEQAQPWGAPVEVESFL
                     VHPGDLLQLRCRLRDDVQSINWLRDGVQLAESNRTRITGEEVEVQDSVPADSGLYACV
                     TSSPSGSDTTYFSVNVSDALPSSEDDDDDDDSSSEEKETDNTKPNRMPVAPYWTSPEK
                     MEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMD
                     SVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFM
                     CKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFE
                     DAGEYTCLAGNSIGLSHHSAWLTVLEALEERPAVMTSPLYLEIIIYCTGAFLISCMVG
                     SVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVTVSADSSASMNSGVLLVRPSRLS
                     SSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRV
                     TKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASK
                     GNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKCIHRDL
                     AARNVLVTEDNVMKIADFGLARDIHHIDYYKKTTNGRLPVKWMAPEALFDRIYTHQSD
                     VWSFGVLLWEIFTLGGSPYPGVPVEELFKLLKEGHRMDKPSNCTNELYMMMRDCWHAV
                     PSQRPTFKQLVEDLDRIVALTSNQEYLDLSMPLDQYSPSFPDTRSSTCSSGEDSVFSH
                     EPLPEEPCLPRHPAQLANGGLKRR"
     sig_peptide     727..789
                     /gene="FGFR1"
     mat_peptide     790..3192
                     /gene="FGFR1"
                     /product="fibroblast growth factor receptor 1, isoform 1"
     misc_feature    907..1050
                     /gene="FGFR1"
                     /note="Region: smart00408, IGc2, Immunoglobulin C-2 Type"
     misc_feature    1228..1467
                     /gene="FGFR1"
                     /note="Region: smart00409, IG, Immunoglobulin"
     misc_feature    1240..1422
                     /gene="FGFR1"
                     /note="Region: pfam00047, ig, Immunoglobulin domain.
                     Members of the immunoglobulin superfamily are found in
                     hundreds of proteins of different functions. Examples
                     include antibodies, the giant muscle kinase titin and
                     receptor tyrosine kinases. Immunoglobulin-like domains may
                     be involved in protein-protein and protein-ligand
                     interactions. The Pfam alignments do not include the first
                     and last strand of the immunoglobulin-like domain"
     misc_feature    1243..1437
                     /gene="FGFR1"
                     /note="Region: smart00408, IGc2, Immunoglobulin C-2 Type"
     misc_feature    1510..1803
                     /gene="FGFR1"
                     /note="Region: smart00409, IG, Immunoglobulin"
     misc_feature    1534..1770
                     /gene="FGFR1"
                     /note="Region: smart00408, IGc2, Immunoglobulin C-2 Type"
     misc_feature    1534..1755
                     /gene="FGFR1"
                     /note="Region: pfam00047, ig, Immunoglobulin domain.
                     Members of the immunoglobulin superfamily are found in
                     hundreds of proteins of different functions. Examples
                     include antibodies, the giant muscle kinase titin and
                     receptor tyrosine kinases. Immunoglobulin-like domains may
                     be involved in protein-protein and protein-ligand
                     interactions. The Pfam alignments do not include the first
                     and last strand of the immunoglobulin-like domain"
     misc_feature    2158..2988
                     /gene="FGFR1"
                     /note="Region: pfam00069, pkinase, Protein kinase domain"
     misc_feature    2158..2988
                     /gene="FGFR1"
                     /note="Region: smart00219, TyrKc, Tyrosine kinase,
                     catalytic domain; Phosphotransferases. Tyrosine-specific
                     kinase subfamily"
     misc_feature    2164..2985
                     /gene="FGFR1"
                     /note="Region: smart00220, S_TKc, erine/Threonine protein
                     kinases, catalytic domain; Phosphotransferases. Serine or
                     threonine-specific kinase subfamily"
     variation       1488
                     /gene="FGFR1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1126484"
     variation       1488
                     /gene="FGFR1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3181537"
     variation       1649
                     /gene="FGFR1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1126485"
     variation       3920
                     /gene="FGFR1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1803197"
BASE COUNT      871 a   1211 c   1183 g    784 t
ORIGIN      
        1 cctcttgcgg ccacaggcgc ggcgtcctcg gcggcgggcg gcagctagcg ggagccggga
       61 cgccggtgca gccgcagcgc gcggaggaac ccgggtgtgc cgggagctgg gcggccacgt
      121 ccggacggga ccgagacccc tcgtagcgca ttgcggcgac ctcgccttcc ccggccgcga
      181 gcgcgccgct gcttgaaaag ccgcggaacc caaggacttt tctccggtcc gagctcgggg
      241 cgccccgcag gcgcacggta cccgtgctgc agtcgggcac gccgcggcgc cgggggcctc
      301 cgcagggcga tggagccggt ctgcaaggaa agtgaggcgc cgccgctgcg ttctggagga
      361 ggggggcaca aggtctggag accccgggtg gcggacggga gccctccccc cgccccgcct
      421 ccggggcacc agctccggct ccattgttcc cgcccgggct ggaggcgccg agcaccgagc
      481 gccgccggga gtcgagcgcc ggccgcggag ctcttgcgac cccgccagga cccgaacaga
      541 gcccgggggc ggcgggccgg agccggggac gcgggcacac gcccgctcgc acaagccacg
      601 gcggactctc ccgaggcgga acctccacgc cgagcgaggg tcagtttgaa aaggaggatc
      661 gagctcactg tggagtatcc atggagatgt ggagccttgt caccaacctc taactgcaga
      721 actgggatgt ggagctggaa gtgcctcctc ttctgggctg tgctggtcac agccacactc
      781 tgcaccgcta ggccgtcccc gaccttgcct gaacaagccc agccctgggg agcccctgtg
      841 gaagtggagt ccttcctggt ccaccccggt gacctgctgc agcttcgctg tcggctgcgg
      901 gacgatgtgc agagcatcaa ctggctgcgg gacggggtgc agctggcgga aagcaaccgc
      961 acccgcatca caggggagga ggtggaggtg caggactccg tgcccgcaga ctccggcctc
     1021 tatgcttgcg taaccagcag cccctcgggc agtgacacca cctacttctc cgtcaatgtt
     1081 tcagatgctc tcccctcctc ggaggatgat gatgatgatg atgactcctc ttcagaggag
     1141 aaagaaacag ataacaccaa accaaaccgt atgcccgtag ctccatattg gacatcccca
     1201 gaaaagatgg aaaagaaatt gcatgcagtg ccggctgcca agacagtgaa gttcaaatgc
     1261 ccttccagtg ggaccccaaa ccccacactg cgctggttga aaaatggcaa agaattcaaa
     1321 cctgaccaca gaattggagg ctacaaggtc cgttatgcca cctggagcat cataatggac
     1381 tctgtggtgc cctctgacaa gggcaactac acctgcattg tggagaatga gtacggcagc
     1441 atcaaccaca cataccagct ggatgtcgtg gagcggtccc ctcaccggcc catcctgcaa
     1501 gcagggttgc ccgccaacaa aacagtggcc ctgggtagca acgtggagtt catgtgtaag
     1561 gtgtacagtg acccgcagcc gcacatccag tggctaaagc acatcgaggt gaatgggagc
     1621 aagattggcc cagacaacct gccttatgtc cagatcttga agactgctgg agttaatacc
     1681 accgacaaag agatggaggt gcttcactta agaaatgtct cctttgagga cgcaggggag
     1741 tatacgtgct tggcgggtaa ctctatcgga ctctcccatc actctgcatg gttgaccgtt
     1801 ctggaagccc tggaagagag gccggcagtg atgacctcgc ccctgtacct ggagatcatc
     1861 atctattgca caggggcctt cctcatctcc tgcatggtgg ggtcggtcat cgtctacaag
     1921 atgaagagtg gtaccaagaa gagtgacttc cacagccaga tggctgtgca caagctggcc
     1981 aagagcatcc ctctgcgcag acaggtaaca gtgtctgctg actccagtgc atccatgaac
     2041 tctggggttc ttctggttcg gccatcacgg ctctcctcca gtgggactcc catgctagca
     2101 ggggtctctg agtatgagct tcccgaagac cctcgctggg agctgcctcg ggacagactg
     2161 gtcttaggca aacccctggg agagggctgc tttgggcagg tggtgttggc agaggctatc
     2221 gggctggaca aggacaaacc caaccgtgtg accaaagtgg ctgtgaagat gttgaagtcg
     2281 gacgcaacag agaaagactt gtcagacctg atctcagaaa tggagatgat gaagatgatc
     2341 gggaagcata agaatatcat caacctgctg ggggcctgca cgcaggatgg tcccttgtat
     2401 gtcatcgtgg agtatgcctc caagggcaac ctgcgggagt acctgcaggc ccggaggccc
     2461 ccagggctgg aatactgcta caaccccagc cacaacccag aggagcagct ctcctccaag
     2521 gacctggtgt cctgcgccta ccaggtggcc cgaggcatgg agtatctggc ctccaagaag
     2581 tgcatacacc gagacctggc agccaggaat gtcctggtga cagaggacaa tgtgatgaag
     2641 atagcagact ttggcctcgc acgggacatt caccacatcg actactataa aaagacaacc
     2701 aacggccgac tgcctgtgaa gtggatggca cccgaggcat tatttgaccg gatctacacc
     2761 caccagagtg atgtgtggtc tttcggggtg ctcctgtggg agatcttcac tctgggcggc
     2821 tccccatacc ccggtgtgcc tgtggaggaa cttttcaagc tgctgaagga gggtcaccgc
     2881 atggacaagc ccagtaactg caccaacgag ctgtacatga tgatgcggga ctgctggcat
     2941 gcagtgccct cacagagacc caccttcaag cagctggtgg aagacctgga ccgcatcgtg
     3001 gccttgacct ccaaccagga gtacctggac ctgtccatgc ccctggacca gtactccccc
     3061 agctttcccg acacccggag ctctacgtgc tcctcagggg aggattccgt cttctctcat
     3121 gagccgctgc ccgaggagcc ctgcctgccc cgacacccag cccagcttgc caatggcgga
     3181 ctcaaacgcc gctgactgcc acccacacgc cctccccaga ctccaccgtc agctgtaacc
     3241 ctcacccaca gcccctgctg ggcccaccac ctgtccgtcc ctgtcccctt tcctgctggc
     3301 aggagccggc tgcctaccag gggccttcct gtgtggcctg ccttcacccc actcagctca
     3361 cctctccctc cacctcctct ccacctgctg gtgagaggtg caaagaggca gatctttgct
     3421 gccagccact tcatcccctc ccagatgttg gaccaacacc cctccctgcc accaggcact
     3481 gcctggaggg cagggagtgg gagccaatga acaggcatgc aagtgagagc ttcctgagct
     3541 ttctcctgtc ggtttggtct gttttgcctt cacccataag cccctcgcac tctggtggca
     3601 ggtgccttgt cctcagggct acagcagtag ggaggtcagt gcttcgtgcc tcgattgaag
     3661 gtgacctctg ccccagatag gtggtgccag tggcttatta attccgatac tagtttgctt
     3721 tgctgaccaa atgcctggta ccagaggatg gtgaggcgaa ggccaggttg ggggcagtgt
     3781 tgtggccctg gggcccagcc ccaaactggg ggctctgtat atagctatga agaaaacaca
     3841 aagtgtataa atctgagtat atatttacat gtctttttaa aagggtcgtt accagagatt
     3901 tacccatcgg gtaagatgct cctggtggct gggaggcatc agttgctata tattaaaaac
     3961 aaaaaagaaa aaaaaggaaa atgtttttaa aaaggtcata tattttttgc tacttttgct
     4021 gttttatttt tttaaattat gttctaaac
//



Revised: July 5, 2002.
 
 


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1: NM_001004. Homo sapiens ribo...[gi:16905512] Links  


LOCUS       RPLP2                    482 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens ribosomal protein, large P2 (RPLP2), mRNA.
ACCESSION   NM_001004
VERSION     NM_001004.2  GI:16905512
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 482)
  AUTHORS   Rich,B.E. and Steitz,J.A.
  TITLE     Human acidic ribosomal phosphoproteins P0, P1, and P2: analysis of
            cDNA clones, in vitro synthesis, and assembly
  JOURNAL   Mol. Cell. Biol. 7 (11), 4065-4074 (1987)
  MEDLINE   88122131
   PUBMED   3323886
REFERENCE   2  (bases 1 to 482)
  AUTHORS   Sharp,M.G., Adams,S.M., Elvin,P., Walker,R.A., Brammar,W.J. and
            Varley,J.M.
  TITLE     A sequence previously identified as metastasis-related encodes an
            acidic ribosomal phosphoprotein, P2
  JOURNAL   Br. J. Cancer 61 (1), 83-88 (1990)
  MEDLINE   90122586
   PUBMED   2153399
REFERENCE   3  (bases 1 to 482)
  AUTHORS   Hochstrasser,D.F., Frutiger,S., Paquet,N., Bairoch,A., Ravier,F.,
            Pasquali,C., Sanchez,J.C., Tissot,J.D., Bjellqvist,B., Vargas,R.,
            Appel,R.D. and Hughes,G.J.
  TITLE     Human liver protein map: a reference database established by
            microsequencing and gel comparison
  JOURNAL   Electrophoresis 13 (12), 992-1001 (1992)
  MEDLINE   93162045
   PUBMED   1286669
REFERENCE   4  (bases 1 to 482)
  AUTHORS   Matoba,R., Okubo,K., Hori,N., Fukushima,A. and Matsubara,K.
  TITLE     The addition of 5'-coding information to a 3'-directed cDNA library
            improves analysis of gene expression
  JOURNAL   Gene 146 (2), 199-207 (1994)
  MEDLINE   94357437
   PUBMED   8076819
REFERENCE   5  (bases 1 to 482)
  AUTHORS   Wool,I.G., Chan,Y.L. and Gluck,A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem. Cell Biol. 73 (11-12), 933-947 (1995)
  MEDLINE   96282697
   PUBMED   8722009
  REMARK    This review focuses primarily on rat ribosomal proteins, but it
            compares them to human ribosomal proteins.
REFERENCE   6  (bases 1 to 482)
  AUTHORS   Uechi,T., Tanaka,T. and Kenmochi,N.
  TITLE     A complete map of the human ribosomal protein genes: assignment of
            80 genes to the cytogenetic map and implications for human
            disorders
  JOURNAL   Genomics 72 (3), 223-230 (2001)
  MEDLINE   21295043
   PUBMED   11401437
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC005354.1, BC005920.1 and
            BC007573.1.
            On Nov 13, 2001 this sequence version replaced gi:4506670.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            phosphoprotein that is a component of the 60S subunit. The protein,
            which is a functional equivalent of the E. coli L7/L12 ribosomal
            protein, belongs to the L12P family of ribosomal proteins. It plays
            an important role in the elongation step of protein synthesis.
            Unlike most ribosomal proteins, which are basic, the encoded
            protein is acidic. Its C-terminal end is nearly identical to the
            C-terminal ends of the ribosomal phosphoproteins P0 and P1. The P2
            protein can interact with P0 and P1 to form a pentameric complex
            consisting of P1 and P2 dimers, and a P0 monomer. The protein is
            located in the cytoplasm. As is typical for genes encoding
            ribosomal proteins, there are multiple processed pseudogenes of
            this gene dispersed through the genome.
FEATURES             Location/Qualifiers
     source          1..482
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5-p15.4"
                     /clone="MGC:12453 IMAGE:4052568"
     gene            1..482
                     /gene="RPLP2"
                     /note="P2; RPP2"
                     /db_xref="LocusID:6181"
                     /db_xref="MIM:180530"
     misc_feature    1
                     /gene="RPLP2"
                     /note="location of 5'-most transcription initiation site
                     is unknown"
     misc_feature    3
                     /gene="RPLP2"
                     /note="alternative transcription initiation site"
                     /evidence=experimental
     misc_feature    4
                     /gene="RPLP2"
                     /note="alternative transcription initiation site"
                     /evidence=experimental
     CDS             77..424
                     /gene="RPLP2"
                     /note="60S acidic ribosomal protein P2; acidic ribosomal
                     phosphoprotein P2"
                     /codon_start=1
                     /product="ribosomal protein P2"
                     /protein_id="NP_000995.1"
                     /db_xref="GI:4506671"
                     /db_xref="LocusID:6181"
                     /db_xref="MIM:180530"
                     /translation="MRYVASYLLAALGGNSSPSAKDIKKILDSVGIEADDDRLNKVIS
                     ELNGKNIEDVIAQGIGKLASVPAGGAVAVSAAPGSAAPAAGSAPAAAEEKKDEKKEES
                     EESDDDMGFGLFD"
     misc_feature    77..262
                     /gene="RPLP2"
                     /note="Region: pfam00428, 60s_ribosomal, 60s Acidic
                     ribosomal protein. This family includes archaebacterial
                     L12, eukaryotic P0, P1 and P2"
     variation       157
                     /gene="RPLP2"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1803013"
     variation       167
                     /gene="RPLP2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3207456"
     variation       167
                     /gene="RPLP2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1803014"
     variation       186
                     /gene="RPLP2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1803011"
     variation       206
                     /gene="RPLP2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1803010"
     variation       351
                     /gene="RPLP2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3209357"
     variation       364
                     /gene="RPLP2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3209380"
     variation       367
                     /gene="RPLP2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1135970"
     variation       375
                     /gene="RPLP2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3205367"
     polyA_signal    442..447
                     /gene="RPLP2"
     variation       461
                     /gene="RPLP2"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3209477"
     polyA_site      462
                     /gene="RPLP2"
                     /evidence=experimental
     polyA_site      463
                     /gene="RPLP2"
                     /evidence=experimental
     variation       463
                     /gene="RPLP2"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3209478"
     polyA_site      464
                     /gene="RPLP2"
                     /evidence=experimental
     variation       464
                     /gene="RPLP2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3205366"
BASE COUNT      116 a    137 c    128 g    101 t
ORIGIN      
        1 ttccttttcc tccctgtcgc caccgaggtc gcacgcgtga gacttctccg ccgcctccgc
       61 cgcagacgcc gccgcgatgc gctacgtcgc ctcctacctg ctggctgccc tagggggcaa
      121 ctcctccccc agcgccaagg acatcaagaa gatcttggac agcgtgggta tcgaggcgga
      181 cgacgaccgg ctcaacaagg ttatcagtga gctgaatgga aaaaacattg aagacgtcat
      241 tgcccagggt attggcaagc ttgccagtgt acctgctggt ggggctgtag ccgtctctgc
      301 tgccccaggc tctgcagccc ctgctgctgg ttctgcccct gctgcagcag aggagaagaa
      361 agatgagaag aaggaggagt ctgaagagtc agatgatgac atgggatttg gcctttttga
      421 ttaaattcct gctcccctgc aaataaagcc tttttacaca tctcaaaaaa aaaaaaaaaa
      481 aa
//



Revised: July 5, 2002.
 
 


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1: NM_004345. Homo sapiens cath...[gi:4757903] Links  


LOCUS       CAMP                     615 bp    mRNA    linear   PRI 01-NOV-2000
DEFINITION  Homo sapiens cathelicidin antimicrobial peptide (CAMP), mRNA.
ACCESSION   NM_004345
VERSION     NM_004345.1  GI:4757903
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 615)
  AUTHORS   Agerberth,B., Gunne,H., Odeberg,J., Kogner,P., Boman,H.G. and
            Gudmundsson,G.H.
  TITLE     FALL-39, a putative human peptide antibiotic, is cysteine-free and
            expressed in bone marrow and testis
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 92 (1), 195-199 (1995)
  MEDLINE   95116523
   PUBMED   7529412
REFERENCE   2  (bases 1 to 615)
  AUTHORS   Larrick JW, Hirata M, Balint RF, Lee J, Zhong J and Wright SC.
  TITLE     Human CAP18: a novel antimicrobial lipopolysaccharide-binding
            protein
  JOURNAL   Infect. Immun. 63 (4), 1291-1297 (1995)
  MEDLINE   95197251
   PUBMED   7890387
REFERENCE   3  (bases 1 to 615)
  AUTHORS   Cowland JB, Johnsen AH and Borregaard N.
  TITLE     hCAP-18, a cathelin/pro-bactenecin-like protein of human neutrophil
            specific granules
  JOURNAL   FEBS Lett. 368 (1), 173-176 (1995)
  MEDLINE   95339969
   PUBMED   7615076
REFERENCE   4  (bases 1 to 615)
  AUTHORS   Gudmundsson GH, Magnusson KP, Chowdhary BP, Johansson M, Andersson
            L and Boman HG.
  TITLE     Structure of the gene for porcine peptide antibiotic PR-39, a
            cathelin gene family member: comparative mapping of the locus for
            the human peptide antibiotic FALL-39
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 92 (15), 7085-7089 (1995)
  MEDLINE   95350216
   PUBMED   7624374
REFERENCE   5  (bases 1 to 615)
  AUTHORS   Gudmundsson GH, Agerberth B, Odeberg J, Bergman T, Olsson B and
            Salcedo R.
  TITLE     The human gene FALL39 and processing of the cathelin precursor to
            the antibacterial peptide LL-37 in granulocytes
  JOURNAL   Eur. J. Biochem. 238 (2), 325-332 (1996)
  MEDLINE   96283824
   PUBMED   8681941
REFERENCE   6  (bases 1 to 615)
  AUTHORS   Larrick JW, Lee J, Ma S, Li X, Francke U, Wright SC and Balint RF.
  TITLE     Structural, functional analysis and localization of the human CAP18
            gene
  JOURNAL   FEBS Lett. 398 (1), 74-80 (1996)
  MEDLINE   97102716
   PUBMED   8946956
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from Z38026.1.
FEATURES             Location/Qualifiers
     source          1..615
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.3"
                     /clone="Hu7"
                     /tissue_type="Bone marrow"
                     /clone_lib="human bone marrow lambdagt11"
     gene            1..615
                     /gene="CAMP"
                     /note="FALL39; CAP18; FALL-39"
                     /db_xref="LocusID:820"
                     /db_xref="MIM:600474"
     CDS             12..524
                     /gene="CAMP"
                     /codon_start=1
                     /product="cathelicidin antimicrobial peptide"
                     /protein_id="NP_004336.1"
                     /db_xref="GI:4757904"
                     /db_xref="LocusID:820"
                     /db_xref="MIM:600474"
                     /translation="MKTQRNGHSLGRWSLVLLLLGLVMPLAIIAQVLSYKEAVLRAID
                     GINQRSSDANLYRLLDLDPRPTMDGDPDTPKPVSFTVKETVCPRTTQQSPEDCDFKKD
                     GLVKRCMGTVTLNQARGSFDISCDKDNKRFALLGDFFRKSKEKIGKEFKRIVQRIKDF
                     LRNLVPRTES"
     misc_feature    105..305
                     /gene="CAMP"
                     /note="Cathelicidins"
                     /db_xref="CDD:pfam00666"
     mat_peptide     405..521
                     /gene="CAMP"
                     /product="cathelicidin antimicrobial peptide"
BASE COUNT      167 a    152 c    168 g    128 t
ORIGIN      
        1 gaattccggc catgaagacc caaaggaatg gccactccct ggggcggtgg tcactggtgc
       61 tcctgctgct gggcctggtg atgcctctgg ccatcattgc ccaggtcctc agctacaagg
      121 aagctgtcct tcgtgctata gatggcatca accagcggtc ctcggatgct aacctctacc
      181 gcctcctgga cctggacccc aggcccacga tggatgggga cccagacacg ccaaagcctg
      241 tgagcttcac agtgaaggag acagtgtgcc ccaggacgac acagcagtca ccagaggatt
      301 gtgacttcaa gaaggacggg ctggtgaagc ggtgtatggg gacagtgacc ctcaaccagg
      361 ccaggggctc ctttgacatc agttgtgata aggataacaa gagatttgcc ctgctgggtg
      421 atttcttccg gaaatctaaa gagaagattg gcaaagagtt taaaagaatt gtccagagaa
      481 tcaaggattt tttgcggaat cttgtaccca ggacagagtc ctagtgtgtg ccctaccctg
      541 gctcaggctt ctgggctctg agaaataaac tatgagagca atttcaaaaa aaaaaaaaaa
      601 aaaaaaccgg aattc
//



Revised: July 5, 2002.
 
 


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1: NM_002356. Homo sapiens myri...[gi:11125771] Links  


LOCUS       MARCKS                  2589 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens myristoylated alanine-rich protein kinase C substrate
            (MARCKS), mRNA.
ACCESSION   NM_002356
VERSION     NM_002356.4  GI:11125771
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2589)
  AUTHORS   Harlan,D.M., Graff,J.M., Stumpo,D.J., Eddy,R.L. Jr., Shows,T.B.,
            Boyle,J.M. and Blackshear,P.J.
  TITLE     The human myristoylated alanine-rich C kinase substrate (MARCKS)
            gene (MACS). Analysis of its gene product, promoter, and
            chromosomal localization
  JOURNAL   J. Biol. Chem. 266 (22), 14399-14405 (1991)
  MEDLINE   91317795
   PUBMED   1860846
REFERENCE   2  (bases 1 to 2589)
  AUTHORS   Hartwig,J.H., Thelen,M., Rosen,A., Janmey,P.A., Nairn,A.C. and
            Aderem,A.
  TITLE     MARCKS is an actin filament crosslinking protein regulated by
            protein kinase C and calcium-calmodulin
  JOURNAL   Nature 356 (6370), 618-622 (1992)
  MEDLINE   92220195
   PUBMED   1560845
REFERENCE   3  (sites)
  AUTHORS   Sakai,K., Hirai,M., Kudoh,J., Minoshima,S. and Shimizu,N.
  TITLE     Molecular cloning and chromosomal mapping of a cDNA encoding human
            80K-L protein: major substrate for protein kinase C
  JOURNAL   Genomics 14 (1), 175-178 (1992)
  MEDLINE   93052291
   PUBMED   1427823
REFERENCE   4  (bases 1 to 2589)
  AUTHORS   Blackshear,P.J.
  TITLE     The MARCKS family of cellular protein kinase C substrates
  JOURNAL   J. Biol. Chem. 268 (3), 1501-1504 (1993)
  MEDLINE   93131879
   PUBMED   8420923
REFERENCE   5  (bases 1 to 2589)
  AUTHORS   Taniguchi,H. and Manenti,S.
  TITLE     Interaction of myristoylated alanine-rich protein kinase C
            substrate (MARCKS) with membrane phospholipids
  JOURNAL   J. Biol. Chem. 268 (14), 9960-9963 (1993)
  MEDLINE   93252971
   PUBMED   8486722
REFERENCE   6  (bases 1 to 2589)
  AUTHORS   Rao,P.H., Murty,V.V., Gaidano,G., Hauptschein,R., Dalla-Favera,R.
            and Chaganti,R.S.
  TITLE     Subregional mapping of 8 single copy loci to chromosome 6 by
            fluorescence in situ hybridization
  JOURNAL   Cytogenet. Cell Genet. 66 (4), 272-273 (1994)
  MEDLINE   94215320
   PUBMED   8162705
REFERENCE   7  (bases 1 to 2589)
  AUTHORS   Aderem,A.
  TITLE     The MARCKS family of protein kinase-C substrates
  JOURNAL   Biochem. Soc. Trans. 23 (3), 587-591 (1995)
  MEDLINE   96077232
   PUBMED   8566422
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D10522.1.
            On Nov 8, 2000 this sequence version replaced gi:11064246.
            Summary: The protein encoded by this gene is a substrate for
            protein kinase C. It is localized to the plasma membrane and is an
            actin filament crosslinking protein. Phosphorylation by protein
            kinase C or binding to calcium-calmodulin inhibits its association
            with actin and with the plasma membrane, leading to its presence in
            the cytoplasm. The protein is thought to be involved in cell
            motility, phagocytosis, membrane trafficking and mitogenesis.
FEATURES             Location/Qualifiers
     source          1..2589
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.2"
     gene            1..2589
                     /gene="MARCKS"
                     /note="MACS; 80K-L; PKCSL; MRACKS; PRKCSL"
                     /db_xref="LocusID:4082"
                     /db_xref="MIM:177061"
     variation       289..291
                     /gene="MARCKS"
                     /allele="-"
                     /allele="GCT"
                     /db_xref="dbSNP:3832411"
     CDS             370..1368
                     /gene="MARCKS"
                     /note="phosphomyristin; myristoylated alanine-rich protein
                     kinase C substrate (MARCKS, 80K-L)"
                     /codon_start=1
                     /product="myristoylated alanine-rich protein kinase C
                     substrate"
                     /protein_id="NP_002347.4"
                     /db_xref="GI:11125772"
                     /db_xref="LocusID:4082"
                     /db_xref="MIM:177061"
                     /translation="MGAQFSKTAAKGEAAAERPGEAAVASSPSKANGQENGHVKVNGD
                     ASPAAAESGAKEELQANGSAPAADKEEPAAAGSGAASPSSAEKGEPAAAAAPEAGASP
                     VEKEAPAEGEAAEPGSATAAEGEAASAASSTSSPKAEDGATPSPSNETPKKKKKRFSF
                     KKSFKLSGFSFKKNKKEAGEGGEAEAPAAEGGKDEAAGGAAAAAAEAGAASGEQAAAP
                     GEEAAAGEEGAAGGDPQEAKPQEAAVAPEKPPASDETKAAEEPSKVEEKKAEEAGASA
                     AACEAPSAAGPGAPPEQEAAPAEEPAAAAASSACAAPSQEAQPECSPEAPPAEAAE"
     variation       1035
                     /gene="MARCKS"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1049560"
     variation       1069
                     /gene="MARCKS"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1049561"
     variation       1190
                     /gene="MARCKS"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3734458"
     variation       1235
                     /gene="MARCKS"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1049563"
     variation       1674
                     /gene="MARCKS"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1063446"
     variation       1719
                     /gene="MARCKS"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:12307"
     variation       1952
                     /gene="MARCKS"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1049866"
     variation       1983
                     /gene="MARCKS"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:10585"
     variation       1984
                     /gene="MARCKS"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1049873"
     variation       2366
                     /gene="MARCKS"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3210346"
     variation       2449
                     /gene="MARCKS"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1063524"
     polyA_signal    2570..2575
                     /gene="MARCKS"
     polyA_site      2589
                     /gene="MARCKS"
BASE COUNT      608 a    659 c    682 g    640 t
ORIGIN      
        1 caaccaggga gatttctcca ttttcctctt gtctacagtg cggctacaaa tctgggattt
       61 ttttattact tctttttttt tcgaactaca cttgggctcc tttttttgtg ctcgactttt
      121 ccaccctttt tccctccctc ctgtgctgct gctttttgat ctcttcgact aaaatttttt
      181 tatccggagt gtatttaatc ggttctgttc tgtcctctcc accaccccca cccccctccc
      241 tccggtgtgt gtgccgctgc cgctgttgcc gccgccgctg ctgctgctgc tcgccccgtc
      301 gttacaccaa cccgaggctc tttgtttccc ctcttggatc tgttgagttt ctttgttgaa
      361 gaagccagca tgggtgccca gttctccaag accgcagcga agggagaagc cgccgcggag
      421 aggcctgggg aggcggctgt ggcctcgtcg ccttccaaag cgaacggaca ggagaatggc
      481 cacgtgaagg taaacggcga cgcttcgccc gcggccgccg agtcgggcgc caaggaggag
      541 ctgcaggcca acggcagcgc cccggccgcc gacaaggagg agcccgcggc cgccgggagc
      601 ggggcggcgt cgccctcctc ggccgagaaa ggtgagccgg ccgccgccgc tgcccccgag
      661 gccggggcca gcccggtaga gaaggaggcc cccgcggaag gcgaggctgc cgagcccggc
      721 tcggccacgg ccgcggaggg agaggccgcg tcggccgcct cctcgacttc ttcgcccaag
      781 gccgaggacg gggccacgcc ctcgcccagc aacgagaccc cgaaaaaaaa aaagaagcgc
      841 ttttccttca agaagtcttt caagctgagc ggcttctcct tcaagaagaa caagaaggag
      901 gctggagaag gcggtgaggc tgaggcgccc gctgccgaag gcggcaagga cgaggccgcc
      961 gggggcgcag ctgcggccgc cgccgaggcg ggcgcggcct ccggggagca ggcagcggcg
     1021 ccgggcgagg aggcggcagc gggcgaggag ggggcggcgg gtggcgaccc gcaggaggcc
     1081 aagccccagg aggccgctgt cgcgccagag aagccgcccg ccagcgacga gaccaaggcc
     1141 gccgaggagc ccagcaaggt ggaggagaaa aaggccgagg aggccggggc cagcgccgcc
     1201 gcctgcgagg ccccctccgc cgccgggccc ggcgcgcccc cggagcagga ggcagccccc
     1261 gcggaggagc ccgcggccgc cgcagcctcg tcagcctgcg cagccccctc acaggaggcc
     1321 cagcccgagt gcagtccaga agccccccca gcggaggcgg cagagtaaaa gagcaagctt
     1381 ttgtgagata atcgaagaac ttttctcccc cgtttgtttg ttggagtggt gccaggtact
     1441 gttttggaga acttgtctac aaccagggat tgattttaaa gatgtctttt tttattttac
     1501 ttttttttaa gcaccaaatt ttgttgtttt tttttttctc ccctccccac agatcccatc
     1561 tcaaatcatt ctgttaacca ccattccaac aggtcgagga gagcttaaac accttcttcc
     1621 tctgccttgt ttctctttta ttttttattt tttcgcatca gtattaatgt ttttgcatac
     1681 tttgcatctt tattcaaaag tgtaaacttt ctttgtcaat ctatggacat gcccatatat
     1741 gaaggagatg ggtgggtcaa aaagggatat caaatgaagt gataggggtc acaatgggga
     1801 aattgaagtg gtgcataaca ttgccaaaat agtgtgccac tagaaatggt gtaaaggctg
     1861 tctttttttt tttttttaaa gaaaagttat taccatgtat tttgtgaggc aggtttacaa
     1921 cactacaagt cttgagttaa gaaggaaaga ggaaaaaaga aaaaacacca atacccagat
     1981 ttaaaaaaaa aaaaacgatc atagtcttag gagttcattt aaaccatagg aacttttcac
     2041 ttatctcatg ttagctgtac cagtcagtga ttaagtagaa ctacaagttg tataggcttt
     2101 attgtttatt gctggtttat gaccttaata aagtgtaatt atgtattacc agcagggtgt
     2161 ttttaactgt gactattgta taaaaacaaa tcttgatatc cagaagcaca tgaagtttgc
     2221 aactttccac cctgcccatt tttgtaaaac tgcagtcatc ttggaccttt taaaacacaa
     2281 attttaaact caaccaagct gtgataagtg gaatggttac tgtttatact gtggtatgtt
     2341 tttgattaca gcagataatg ctttcttttc cagtcgtctt tgagaataaa ggaaaaaaaa
     2401 tcttcagatg caatggtttt gtgtagcatc ttgtctatca tgttttgtaa atactggaga
     2461 agctttgacc aatttgactt agagatggaa tgtaactttg cttacaaaaa ttgctattaa
     2521 actcctgctt aaggtgttct aattttctgt gagcacacta aaagcgaaaa ataaatgtga
     2581 ataaaatgt
//



Revised: July 5, 2002.
 
 


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1: NM_012383. Homo sapiens oste...[gi:21361408] Links  


LOCUS       OSTF1                   1229 bp    mRNA    linear   PRI 10-JUN-2002
DEFINITION  Homo sapiens osteoclast stimulating factor 1 (OSTF1), mRNA.
ACCESSION   NM_012383
VERSION     NM_012383.2  GI:21361408
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1229)
  AUTHORS   Strausberg,R.
  TITLE     Homo sapiens osteoclast stimulating factor 1 (OSTF1), mRNA
  JOURNAL   Unpublished (2001)
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC007459.1.
            On Jun 10, 2002 this sequence version replaced gi:6912563.
FEATURES             Location/Qualifiers
     source          1..1229
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.1-24.2"
                     /clone="MGC:12230 IMAGE:4052054"
                     /tissue_type="Kidney, hypernephroma"
                     /clone_lib="NIH_MGC_58"
                     /lab_host="DH10B"
                     /note="Vector: pDNR-LIB"
     gene            1..1229
                     /gene="OSTF1"
                     /note="OSF; SH3P2"
                     /db_xref="LocusID:26578"
     CDS             109..762
                     /gene="OSTF1"
                     /codon_start=1
                     /product="osteoclast stimulating factor 1"
                     /protein_id="NP_036515.2"
                     /db_xref="GI:21361409"
                     /db_xref="LocusID:26578"
                     /translation="MSKPPPKPVKPGEGGQVKVFRALYTFEPRTPDELYFEEGDIIYI
                     TDMSDTNWWKGTSKGRTGLIPSNYVAEQAESIDNPLHEAAKRGNLSWLRECLDNRVGV
                     NGLDKAGSTALYWACHGGHKDIVEMLFTQPNIELNQQNKLGDTALHAAAWKGYADIVQ
                     LFLAKGARTDLRNIEKKLAFDMATNAACASLLKKKQGTDAVRTLSNAEDYLDDEDSD"
     misc_feature    166..321
                     /gene="OSTF1"
                     /note="SH3; Region: SH3 domain"
                     /db_xref="CDD:pfam00018"
     misc_feature    166..321
                     /gene="OSTF1"
                     /note="SH3; Region: Src homology 3 domains"
                     /db_xref="CDD:smart00326"
     misc_feature    433..531
                     /gene="OSTF1"
                     /note="ank; Region: Ank repeat"
                     /db_xref="CDD:pfam00023"
     misc_feature    535..627
                     /gene="OSTF1"
                     /note="ank; Region: Ank repeat"
                     /db_xref="CDD:pfam00023"
     misc_feature    535..609
                     /gene="OSTF1"
                     /note="ANK; Region: ankyrin repeats"
                     /db_xref="CDD:smart00248"
     variation       747
                     /gene="OSTF1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2146044"
     variation       754
                     /gene="OSTF1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1804671"
     variation       962
                     /gene="OSTF1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1052199"
BASE COUNT      400 a    213 c    283 g    333 t
ORIGIN      
        1 acggttgtaa gccagacaaa aagaactggg gtgcccggag tgccaggtgg cgggcaagcg
       61 gtgggctttt cggcggggtc tttaggattt gcagctccag gaagcgagat gtcgaagccg
      121 ccacccaaac cagtcaaacc aggtgaggga gggcaagtta aagtcttcag agccctgtat
      181 acgtttgaac ccagaactcc agatgaatta tactttgagg aaggtgatat tatctacatt
      241 actgacatga gcgataccaa ttggtggaaa ggcacctcca aaggcaggac tggactaatt
      301 ccaagcaact atgtggctga gcaggcagaa tccattgaca atccattgca tgaagcagca
      361 aaaagaggca acttgagctg gttgagagag tgtttggaca acagagtggg tgttaatggc
      421 ttagacaaag ctggaagcac tgccttatac tgggcttgcc acgggggcca caaagatata
      481 gtggaaatgc tatttactca accaaatatt gaactgaacc agcagaacaa gttgggagat
      541 acagctttgc atgctgctgc ctggaagggt tatgcagata tcgtccagtt gtttctggca
      601 aaaggtgcta gaacagactt aagaaacatt gagaagaagc tggccttcga catggctacc
      661 aatgctgcct gtgcatctct cctgaaaaag aaacagggaa cagatgcagt tcgaacatta
      721 agcaatgccg aggactatct cgatgatgaa gactcagatt aattcctttc tggagctttg
      781 agatctaaaa cttctgttgc ttttgccatt ccaaaacttt gtctttgcca gaaaagtgtt
      841 ggtaactata aagaaaatta tatatgaaca cggcagtgtt gcactgtgtt tgagtagaac
      901 gtgtaaatga attgttccca cctttggttt gccagtaagt gactggattc ttggcacatt
      961 tgtgttcacc aaagtagaac aagaagatat tatttctatt tatcaagcaa aaggaatttt
     1021 aagatttttt tttctttaaa aacaaattag gatttttttt tttttttttt ttttttagtt
     1081 aaaatgcttt acctcaatgg ttgagatatt ttgaatggat ttttcaaggg ggggaaatgc
     1141 ttattataat aataaaccaa aatacttaac agaaaattgt cagctattct gacaaaaaca
     1201 aaaaaaaaaa aaaaaaaaaa aaaaaaaaa
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001710. Homo sapiens B-fa...[gi:14550403] Links  


LOCUS       BF                      2477 bp    mRNA    linear   PRI 25-JUN-2001
DEFINITION  Homo sapiens B-factor, properdin (BF), mRNA.
ACCESSION   NM_001710
VERSION     NM_001710.2  GI:14550403
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2477)
  AUTHORS   Woods,D.E., Markham,A.F., Ricker,A.T., Goldberger,G. and
            Colten,H.R.
  TITLE     Isolation of cDNA clones for the human complement protein factor B,
            a class III major histocompatibility complex gene product
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 79 (18), 5661-5665 (1982)
  MEDLINE   83039428
   PUBMED   6957884
REFERENCE   2  (bases 1 to 2477)
  AUTHORS   Campbell,R.D. and Porter,R.R.
  TITLE     Molecular cloning and characterization of the gene coding for human
            complement protein factor B
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 80 (14), 4464-4468 (1983)
  MEDLINE   83273641
   PUBMED   6308626
REFERENCE   3  (bases 1 to 2477)
  AUTHORS   Morley,B.J. and Campbell,R.D.
  TITLE     Internal homologies of the Ba fragment from human complement
            component Factor B, a class III MHC antigen
  JOURNAL   EMBO J. 3 (1), 153-157 (1984)
  MEDLINE   84158524
   PUBMED   6323161
REFERENCE   4  (bases 1 to 2477)
  AUTHORS   Mole,J.E., Anderson,J.K., Davison,E.A. and Woods,D.E.
  TITLE     Complete primary structure for the zymogen of human complement
            factor B
  JOURNAL   J. Biol. Chem. 259 (6), 3407-3412 (1984)
  MEDLINE   84161997
   PUBMED   6546754
REFERENCE   5  (bases 1 to 2477)
  AUTHORS   Campbell RD, Bentley DR and Morley BJ.
  TITLE     The factor B and C2 genes
  JOURNAL   Philos. Trans. R. Soc. Lond., B, Biol. Sci. 306 (1129), 367-378
            (1984)
  MEDLINE   85038857
   PUBMED   6149579
REFERENCE   6  (bases 1 to 2477)
  AUTHORS   Campbell,R.D.
  TITLE     The molecular genetics and polymorphism of C2 and factor B
  JOURNAL   Br. Med. Bull. 43 (1), 37-49 (1987)
  MEDLINE   88051634
   PUBMED   3315100
REFERENCE   7  (bases 1 to 2477)
  AUTHORS   Wu,L.C., Morley,B.J. and Campbell,R.D.
  TITLE     Cell-specific expression of the human complement protein factor B
            gene: evidence for the role of two distinct 5'-flanking elements
  JOURNAL   Cell 48 (2), 331-342 (1987)
  MEDLINE   87102880
   PUBMED   3643061
REFERENCE   8  (bases 1 to 2477)
  AUTHORS   Davrinche,C., Abbal,M. and Clerc,A.
  TITLE     Molecular characterization of human complement factor B subtypes
  JOURNAL   Immunogenetics 32 (5), 309-312 (1990)
  MEDLINE   91065702
   PUBMED   2249879
REFERENCE   9  (bases 1 to 2477)
  AUTHORS   Schwaeble,W., Luttig,B., Sokolowski,T., Estaller,C., Weiss,E.H.,
            Meyer zum Buschenfelde,K.H., Whaley,K. and Dippold,W.
  TITLE     Human complement factor B: functional properties of a recombinant
            zymogen of the alternative activation pathway convertase
  JOURNAL   Immunobiology 188 (3), 221-232 (1993)
  MEDLINE   94041399
   PUBMED   8225386
REFERENCE   10 (bases 1 to 2477)
  AUTHORS   Horiuchi,T., Kim,S., Matsumoto,M., Watanabe,I., Fujita,S. and
            Volanakis,J.E.
  TITLE     Human complement factor B: cDNA cloning, nucleotide sequencing,
            phenotypic conversion by site-directed mutagenesis and expression
  JOURNAL   Mol. Immunol. 30 (17), 1587-1592 (1993)
  MEDLINE   94067177
   PUBMED   8247029
REFERENCE   11 (bases 1 to 2477)
  AUTHORS   Mejia,J.E., Jahn,I., de la Salle,H. and Hauptmann,G.
  TITLE     Human factor B. Complete cDNA sequence of the BF*S allele
  JOURNAL   Hum. Immunol. 39 (1), 49-53 (1994)
  MEDLINE   94237735
   PUBMED   8181962
REFERENCE   12 (bases 1 to 2477)
  AUTHORS   Yu CY.
  TITLE     Molecular genetics of the human MHC complement gene cluster
  JOURNAL   Exp. Clin. Immunogenet. 15 (4), 213-230 (1998)
  MEDLINE   99171993
   PUBMED   10072631
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from L15702.1 and BC004143.1.
            On Jun 26, 2001 this sequence version replaced gi:4502396.
            Summary: This gene encodes complement factor B, a component of the
            alternative pathway of complement activation. Factor B circulates
            in the blood as a single chain polypeptide. Upon activation of the
            alternative pathway, it is cleaved by complement factor D yielding
            the noncatalytic chain Ba and the catalytic subunit Bb. The active
            subunit Bb is a serine protease which associates with C3b to form
            the alternative pathway C3 convertase. Bb is involved in the
            proliferation of preactivated B lymphocytes, while Ba inhibits
            their proliferation. This gene localizes to the major
            histocompatibility complex (MHC) class III region on chromosome 6.
            This cluster includes several genes involved in regulation of the
            immune reaction. The polyadenylation site of this gene is 421 bp
            from the 5' end of the gene for complement component 2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2477
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.3"
     gene            1..2477
                     /gene="BF"
                     /note="GBG; CFAB; PBF2"
                     /db_xref="LocusID:629"
                     /db_xref="MIM:138470"
     CDS             130..2424
                     /gene="BF"
                     /EC_number="3.4.21.47"
                     /note="B-factor, properdin; C3 proactivator; C3
                     proaccelerator; glycine-rich beta-glycoprotein; C3/C5
                     convertase"
                     /codon_start=1
                     /product="complement factor B preproprotein"
                     /protein_id="NP_001701.1"
                     /db_xref="GI:4502397"
                     /db_xref="LocusID:629"
                     /db_xref="MIM:138470"
                     /db_xref="LocusID:629"
                     /db_xref="MIM:138470"
                     /translation="MGSNLSPQLCLMPFILGLLSGGVTTTPWSLAQPQGSCSLEGVEI
                     KGGSFRLLQEGQALEYVCPSGFYPYPVQTRTCRSTGSWSTLKTQDQKTVRKAECRAIH
                     CPRPHDFENGEYWPRSPYYNVSDEISFHCYDGYTLRGSANRTCQVNGRWSGQTAICDN
                     GAGYCSNPGIPIGTRKVGSQYRLEDSVTYHCSRGLTLRGSQRRTCQEGGSWSGTEPSC
                     QDSFMYDTPQEVAEAFLSSLTETIEGVDAEDGHGPGEQQKRKIVLDPSGSMNIYLVLD
                     GSDSIGASNFTGAKKCLVNLIEKVASYGVKPRYGLVTYATYPKIWVKVSEADSSNADW
                     VTKQLNEINYEDHKLKSGTNTKKALQAVYSMMSWPDDVPPEGWNRTRHVIILMTDGLH
                     NMGGDPITVIDEIRDLLYIGKDRKNPREDYLDVYVFGVGPLVNQVNINALASKKDNEQ
                     HVFKVKDMENLEDVFYQMIDESQSLSLCGMVWEHRKGTDYHKQPWQAKISVIRPSKGH
                     ESCMGAVVSEYFVLTAAHCFTVDDKEHSIKVSVGGEKRDLEIEVVLFHPNYNINGKKE
                     AGIPEFYDYDVALIKLKNKLKYGQTIRPICLPCTEGTTRALRLPPTTTCQQQKEELLP
                     AQDIKALFVSEEEKKLTRKEVYIKNGDKKGSCERDAQYAPGYDKVKDISEVVTPRFLC
                     TGGVSPYADPNTCRGDSGGPLIVHKRSRFIQVGVISWGVVDVCKNQKRQKQVPAHARD
                     FHINLFQVLPWLKEKLQDEDLGFL"
     sig_peptide     130..204
                     /gene="BF"
     mat_peptide     205..906
                     /gene="BF"
                     /product="Ba"
     misc_feature    292..378
                     /gene="BF"
                     /note="CCP; Region: Domain abundant in complement control
                     proteins"
                     /db_xref="CDD:smart00032"
     misc_feature    436..603
                     /gene="BF"
                     /note="CCP; Region: Domain abundant in complement control
                     proteins"
                     /db_xref="CDD:smart00032"
     misc_feature    436..603
                     /gene="BF"
                     /note="sushi; Region: Sushi domain (SCR repeat)"
                     /db_xref="CDD:pfam00084"
     misc_feature    622..783
                     /gene="BF"
                     /note="CCP; Region: Domain abundant in complement control
                     proteins"
                     /db_xref="CDD:smart00032"
     misc_feature    631..783
                     /gene="BF"
                     /note="sushi; Region: Sushi domain (SCR repeat)"
                     /db_xref="CDD:pfam00084"
     mat_peptide     907..2421
                     /gene="BF"
                     /product="Bb"
     misc_feature    934..1539
                     /gene="BF"
                     /note="VWA; Region: von Willebrand factor (vWF) type A
                     domain"
                     /db_xref="CDD:smart00327"
     misc_feature    937..1533
                     /gene="BF"
                     /note="vwa; Region: von Willebrand factor type A domain"
                     /db_xref="CDD:pfam00092"
     misc_feature    1591..2382
                     /gene="BF"
                     /note="Tryp_SPc; Region: Trypsin-like serine protease"
                     /db_xref="CDD:smart00020"
     misc_feature    1600..2385
                     /gene="BF"
                     /note="trypsin; Region: Trypsin"
                     /db_xref="CDD:pfam00089"
     misc_feature    205..2421
                     /gene="BF"
                     /note="complement factor B proprotein"
     variation       223
                     /gene="BF"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:12614"
     variation       223
                     /gene="BF"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3188725"
     variation       224
                     /gene="BF"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1130150"
     variation       579
                     /gene="BF"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3188738"
     variation       1224
                     /gene="BF"
                     /note="WARNING: map location ambiguous"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1803306"
     variation       complement(1494)
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2072634"
     variation       1800
                     /gene="BF"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1803304"
     variation       2235
                     /gene="BF"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1803305"
     variation       2262
                     /gene="BF"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:11392"
     variation       2334
                     /gene="BF"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3210267"
     polyA_signal    2458..2463
                     /gene="BF"
     polyA_site      2477
                     /gene="BF"
                     /evidence=experimental
BASE COUNT      659 a    621 c    677 g    520 t
ORIGIN      
        1 aggggaaggg aatgtgacca ggtctaggtc tggagtttca gcttggacac tgagccaagc
       61 agacaagcaa agcaagccag gacacaccat cctgccccag gcccagcttc tctcctgcct
      121 tccaacgcca tggggagcaa tctcagcccc caactctgcc tgatgccctt tatcttgggc
      181 ctcttgtctg gaggtgtgac caccactcca tggtctttgg cccagcccca gggatcctgc
      241 tctctggagg gggtagagat caaaggcggc tccttccgac ttctccaaga gggccaggca
      301 ctggagtacg tgtgtccttc tggcttctac ccgtaccctg tgcagacacg tacctgcaga
      361 tctacggggt cctggagcac cctgaagact caagaccaaa agactgtcag gaaggcagag
      421 tgcagagcaa tccactgtcc aagaccacac gacttcgaga acggggaata ctggccccgg
      481 tctccctact acaatgtgag tgatgagatc tctttccact gctatgacgg ttacactctc
      541 cggggctctg ccaatcgcac ctgccaagtg aatggccggt ggagtgggca gacagcgatc
      601 tgtgacaacg gagcggggta ctgctccaac ccgggcatcc ccattggcac aaggaaggtg
      661 ggcagccagt accgccttga agacagcgtc acctaccact gcagccgggg gcttaccctg
      721 cgtggctccc agcggcgaac gtgtcaggaa ggtggctctt ggagcgggac ggagccttcc
      781 tgccaagact ccttcatgta cgacacccct caagaggtgg ccgaagcttt cctgtcttcc
      841 ctgacagaga ccatagaagg agtcgatgct gaggatgggc acggcccagg ggaacaacag
      901 aagcggaaga tcgtcctgga cccttcaggc tccatgaaca tctacctggt gctagatgga
      961 tcagacagca ttggggccag caacttcaca ggagccaaaa agtgtctagt caacttaatt
     1021 gagaaggtgg caagttatgg tgtgaagcca agatatggtc tagtgacata tgccacatac
     1081 cccaaaattt gggtcaaagt gtctgaagca gacagcagta atgcagactg ggtcacgaag
     1141 cagctcaatg aaatcaatta tgaagaccac aagttgaagt cagggactaa caccaagaag
     1201 gccctccagg cagtgtacag catgatgagc tggccagatg acgtccctcc tgaaggctgg
     1261 aaccgcaccc gccatgtcat catcctcatg actgatggat tgcacaacat gggcggggac
     1321 ccaattactg tcattgatga gatccgggac ttgctataca ttggcaagga tcgcaaaaac
     1381 ccaagggagg attatctgga tgtctatgtg tttggggtcg ggcctttggt gaaccaagtg
     1441 aacatcaatg ctttggcttc caagaaagac aatgagcaac atgtgttcaa agtcaaggat
     1501 atggaaaacc tggaagatgt tttctaccaa atgatcgatg aaagccagtc tctgagtctc
     1561 tgtggcatgg tttgggaaca caggaagggt accgattacc acaagcaacc atggcaggcc
     1621 aagatctcag tcattcgccc ttcaaaggga cacgagagct gtatgggggc tgtggtgtct
     1681 gagtactttg tgctgacagc agcacattgt ttcactgtgg atgacaagga acactcaatc
     1741 aaggtcagcg taggagggga gaagcgggac ctggagatag aagtagtcct atttcacccc
     1801 aactacaaca ttaatgggaa aaaagaagca ggaattcctg aattttatga ctatgacgtt
     1861 gccctgatca agctcaagaa taagctgaaa tatggccaga ctatcaggcc catttgtctc
     1921 ccctgcaccg agggaacaac tcgagctttg aggcttcctc caactaccac ttgccagcaa
     1981 caaaaggaag agctgctccc tgcacaggat atcaaagctc tgtttgtgtc tgaggaggag
     2041 aaaaagctga ctcggaagga ggtctacatc aagaatgggg ataagaaagg cagctgtgag
     2101 agagatgctc aatatgcccc aggctatgac aaagtcaagg acatctcaga ggtggtcacc
     2161 cctcggttcc tttgtactgg aggagtgagt ccctatgctg accccaatac ttgcagaggt
     2221 gattctggcg gccccttgat agttcacaag agaagtcgtt tcattcaagt tggtgtaatc
     2281 agctggggag tagtggatgt ctgcaaaaac cagaagcggc aaaagcaggt acctgctcac
     2341 gcccgagact ttcacatcaa cctctttcaa gtgctgccct ggctgaagga gaaactccaa
     2401 gatgaggatt tgggttttct ataaggggtt tcctgctgga caggggcgtg ggattgaatt
     2461 aaaacagctg cgacaac
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001791. Homo sapiens cell...[gi:16357470] Links  


LOCUS       CDC42                   2183 bp    mRNA    linear   PRI 07-SEP-2002
DEFINITION  Homo sapiens cell division cycle 42 (GTP binding protein, 25kDa)
            (CDC42), transcript variant 1, mRNA.
ACCESSION   NM_001791
VERSION     NM_001791.2  GI:16357470
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2183)
  AUTHORS   Munemitsu,S., Innis,M.A., Clark,R., McCormick,F., Ullrich,A. and
            Polakis,P.
  TITLE     Molecular cloning and expression of a G25K cDNA, the human homolog
            of the yeast cell cycle gene CDC42
  JOURNAL   Mol. Cell. Biol. 10 (11), 5977-5982 (1990)
  MEDLINE   91042529
   PUBMED   2122236
REFERENCE   2  (bases 1 to 2183)
  AUTHORS   Shinjo,K., Koland,J.G., Hart,M.J., Narasimhan,V., Johnson,D.I.,
            Evans,T. and Cerione,R.A.
  TITLE     Molecular cloning of the gene for the human placental GTP-binding
            protein Gp (G25K): identification of this GTP-binding protein as
            the human homolog of the yeast cell-division-cycle protein CDC42
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 87 (24), 9853-9857 (1990)
  MEDLINE   91088610
   PUBMED   2124704
REFERENCE   3  (bases 1 to 2183)
  AUTHORS   Hart,M.J., Eva,A., Evans,T., Aaronson,S.A. and Cerione,R.A.
  TITLE     Catalysis of guanine nucleotide exchange on the CDC42Hs protein by
            the dbl oncogene product
  JOURNAL   Nature 354 (6351), 311-314 (1991)
  MEDLINE   92065957
   PUBMED   1956381
REFERENCE   4  (bases 1 to 2183)
  AUTHORS   Barron-Casella,E.A., Torres,M.A., Scherer,S.W., Heng,H.H.,
            Tsui,L.C. and Casella,J.F.
  TITLE     Sequence analysis and chromosomal localization of human Cap Z.
            Conserved residues within the actin-binding domain may link Cap Z
            to gelsolin/severin and profilin protein families
  JOURNAL   J. Biol. Chem. 270 (37), 21472-21479 (1995)
  MEDLINE   95394897
   PUBMED   7665558
REFERENCE   5  (bases 1 to 2183)
  AUTHORS   Kim,A.S., Kakalis,L.T., Abdul-Manan,N., Liu,G.A. and Rosen,M.K.
  TITLE     Autoinhibition and activation mechanisms of the Wiskott-Aldrich
            syndrome protein
  JOURNAL   Nature 404 (6774), 151-158 (2000)
  MEDLINE   20186755
   PUBMED   10724160
REFERENCE   6  (bases 1 to 2183)
  AUTHORS   Garrett,W.S., Chen,L.M., Kroschewski,R., Ebersold,M., Turley,S.,
            Trombetta,S., Galan,J.E. and Mellman,I.
  TITLE     Developmental control of endocytosis in dendritic cells by Cdc42
  JOURNAL   Cell 102 (3), 325-334 (2000)
  MEDLINE   20427263
   PUBMED   10975523
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M57298.1, AL121735.1 and
            BC003682.1.
            On Oct 24, 2001 this sequence version replaced gi:4757951.
            Summary: The protein encoded by this gene is a small GTPase of the
            Rho-subfamily, which regulates signaling pathways that control
            diverse cellular functions including cell morphology, migration,
            endocytosis and cell cycle progression. This protein is highly
            similar to Saccharomyces cerevisiae Cdc 42, and is able to
            complement the yeast cdc42-1 mutant. The product of oncogene Dbl
            was reported to specifically catalyze the dissociation of GDP from
            this protein. This protein could regulate actin polymerization
            through its direct binding to Neural Wiskott-Aldrich syndrome
            protein (N-WASP), which subsequently activates Arp2/3 complex.
            Alternative splicing of this gene results in at least two
            transcript variants.
            Transcript Variant: This variant (1) differs from variant 2 at the
            3' region including a small part of the coding region and the
            entire 3' UTR. This variant encodes isoform 1 which has the same aa
            length but different C-terminus from isoform 2.
FEATURES             Location/Qualifiers
     source          1..2183
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.1"
     gene            1..2183
                     /gene="CDC42"
                     /note="G25K; CDC42Hs"
                     /db_xref="LocusID:998"
                     /db_xref="MIM:116952"
     variation       94
                     /gene="CDC42"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1064239"
     CDS             105..680
                     /gene="CDC42"
                     /note="isoform 1 is encoded by transcript variant 1; cell
                     division cycle 42 (GTP-binding protein, 25kD); cell
                     division cycle 42 (GTP binding protein, 25kD)"
                     /codon_start=1
                     /product="cell division cycle 42 isoform 1"
                     /protein_id="NP_001782.1"
                     /db_xref="GI:4757952"
                     /db_xref="LocusID:998"
                     /db_xref="MIM:116952"
                     /translation="MQTIKCVVVGDGAVGKTCLLISYTTNKFPSEYVPTVFDNYAVTV
                     MIGGEPYTLGLFDTAGQEDYDRLRPLSYPQTDVFLVCFSVVSPSSFENVKEKWVPEIT
                     HHCPKTPFLLVGTQIDLRDDPSTIEKLAKNKQKPITPETAEKLARDLKAVKYVECSAL
                     TQKGLKNVFDEAILAALEPPEPKKSRRCVLL"
     misc_feature    108..614
                     /gene="CDC42"
                     /note="Region: pfam00025, arf, ADP-ribosylation factor
                     family"
     misc_feature    111..647
                     /gene="CDC42"
                     /note="Region: pfam00009, GTP_EFTU, Elongation factor Tu
                     GTP binding domain. This domain contains a P-loop motif,
                     also found in several other families such as pfam00071,
                     pfam00025 and pfam00063. Elongation factor Tu consists of
                     three structural domains, this plus two C-terminal beta
                     barrel domains"
     misc_feature    114..617
                     /gene="CDC42"
                     /note="Region: smart00175, RAB, Rab subfamily of small
                     GTPases; Rab GTPases are implicated in vesicle
                     trafficking"
     misc_feature    117..665
                     /gene="CDC42"
                     /note="Region: pfam00071, ras, Ras family. Includes
                     sub-families Ras, Rab, Rac, Ral, Ran, Rap Ypt1 and more.
                     Shares P-loop motif with GTP_EFTU, arf and myosin_head.
                     See pfam00009 pfam00025, pfam00063. The high cutoff is so
                     high to avoid overlaps with related families"
     misc_feature    117..611
                     /gene="CDC42"
                     /note="Region: smart00173, RAS, Ras subfamily of RAS small
                     GTPases; Similar in fold and function to the bacterial
                     EF-Tu GTPase. p21Ras couples receptor Tyr kinases and G
                     protein receptors to protein kinase cascades"
     misc_feature    120..641
                     /gene="CDC42"
                     /note="Region: smart00174, RHO, Rho (Ras homology)
                     subfamily of Ras-like small GTPases; Members of this
                     subfamily of Ras-like small GTPases include Cdc42 and Rac,
                     as well as Rho isoforms"
     misc_feature    129..509
                     /gene="CDC42"
                     /note="Region: smart00176, RAN, Ran (Ras-related nuclear
                     proteins) /TC4 subfamily of small GTPases; Ran is involved
                     in the active transport of proteins through nuclear pores"
     variation       649
                     /gene="CDC42"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:11550"
     variation       complement(913..914)
                     /allele="-"
                     /allele="AC"
                     /db_xref="dbSNP:3036807"
     variation       complement(933)
                     /allele="-"
                     /allele="TT"
                     /db_xref="dbSNP:3036806"
     variation       952
                     /gene="CDC42"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1064240"
     variation       complement(976)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:2206306"
     variation       988
                     /gene="CDC42"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1064241"
     variation       complement(1000)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2206305"
     variation       complement(1119)
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2235531"
     variation       1133
                     /gene="CDC42"
                     /note="WARNING: map location ambiguous"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1064242"
     variation       1266
                     /gene="CDC42"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1803270"
     variation       1390
                     /gene="CDC42"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1803269"
     polyA_signal    2083..2088
                     /gene="CDC42"
     polyA_site      2104
                     /gene="CDC42"
     variation       2105
                     /gene="CDC42"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1134466"
     variation       2106
                     /gene="CDC42"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1134468"
     variation       2106
                     /gene="CDC42"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3196647"
BASE COUNT      647 a    404 c    450 g    682 t
ORIGIN      
        1 ggcagccgag gagaccccgc gcagtgctgc caacgccccg gtggagaagc tgaggtcatc
       61 atcagatttg aaatatttaa agtggataca aaattatttc agcaatgcag acaattaagt
      121 gtgttgttgt gggcgatggt gctgttggta aaacatgtct cctgatatcc tacacaacaa
      181 acaaatttcc atcggaatat gtaccgactg tttttgacaa ctatgcagtc acagttatga
      241 ttggtggaga accatatact cttggacttt ttgatactgc agggcaagag gattatgaca
      301 gattacgacc gctgagttat ccacaaacag atgtatttct agtctgtttt tcagtggtct
      361 ctccatcttc atttgaaaac gtgaaagaaa agtgggtgcc tgagataact caccactgtc
      421 caaagactcc tttcttgctt gttgggactc aaattgatct cagagatgac ccctctacta
      481 ttgagaaact tgccaagaac aaacagaagc ctatcactcc agagactgct gaaaagctgg
      541 cccgtgacct gaaggctgtc aagtatgtgg agtgttctgc acttacacag aaaggcctaa
      601 agaatgtatt tgacgaagca atattggctg ccctggagcc tccagaaccg aagaagagcc
      661 gcaggtgtgt gctgctatga acatctctcc agagcccttt ctgcacagct ggtgtcggca
      721 tcatactaaa agcaatgttt aaatcaaact aaagattaaa aattaaaatt cgtttttgca
      781 ataatgacaa atgccctgca cctacccaca tgcactcgtg tgagacaagg cccataggta
      841 tggccccccc cttccccctc ccagtactag ttaattttga gtaattgtat tgtcagaaaa
      901 gtgattagta ctattttttt ttgttgtttc aaaaaaaaaa tttttgtgtg tctgtttttt
      961 tttttttttt tttttgttgt ttaaaaggaa ggcatgcttg tggatgactc tgtaacagac
     1021 taattggaat tgttgaagct gctccctggt tccactctgg agagtaatct gggacatctt
     1081 agtgttttgt tttgtttttt tccctcctct tttttttggg ggggagtgtg tgtggggttt
     1141 gttttttagt cttgtttttt taattcatta accagtggtt agcccttaag gggaggagga
     1201 cggattgatt ccacattcca cttcctagat ctagtttaga aaacatgttc cccatctggt
     1261 gctcttagga aggagtatag taaatgcctc atttaataac atactccttt ttgaaagttg
     1321 ccttttctct ccacccttga gtagatccag tatttgatga aactcatgaa agtgggtgga
     1381 gcccatcttg cccctcctct tttctaggac gcactatatg tgactgtgac tttcaaggac
     1441 atttgtttgc catttgctga tttttttggg aagttaattt ctaacttctt tcactgataa
     1501 atgaagaaaa gtattgcacc tttgaaatgc accaaatgaa ttgagtttgt aattaaaaaa
     1561 atttttttcc ctttcagtca ttgtcttata tgcttagcat agatttgcag ctcagtagta
     1621 tatggtgttc ctagaatgca gctgaagacc tgttatgtag aggaaatacg aggggtggtg
     1681 ctagaagaca gacatctgtg gaatgattca catcctctca agttaggagg atggaggcct
     1741 gcttcattaa gaagctgggg gtagggtggg ggtggggaga acacttaaca acatggggac
     1801 cagtcagggg aatcccctta tttctgtttt gcatatgagg aaccctagag cagccaggtg
     1861 aggctctcta gtttaataaa aatcatggaa agactcttaa tgcagactct tcttaagtgt
     1921 taatagggat tttttcagct tattttggtt gcagtttcca atttttaaaa atgttgaggt
     1981 aatctttccc accttcccaa acctaattct tgtagatgca ttagtgttga accaatgctt
     2041 tctcatgtct caattctttg tatatgcatt cttttcagat gtattaaaca aacaaaaacc
     2101 cttcaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa
     2161 aaaaaaaaaa aaaaaaaaaa aaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  




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1: NM_004915. Homo sapiens ATP-...[gi:8051574] Links  


LOCUS       ABCG1                   2930 bp    mRNA    linear   PRI 03-FEB-2001
DEFINITION  Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1
            (ABCG1), transcript variant 1, mRNA.
ACCESSION   NM_004915
VERSION     NM_004915.2  GI:8051574
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2930)
  AUTHORS   Andersson,B., Wentland,M.A., Ricafrente,J.Y., Liu,W. and Gibbs,R.A.
  TITLE     A 'double adaptor' method for improved shotgun library construction
  JOURNAL   Anal. Biochem. 236 (1), 107-113 (1996)
  MEDLINE   96207227
   PUBMED   8619474
REFERENCE   2  (bases 1 to 2930)
  AUTHORS   Chen,H., Rossier,C., Lalioti,M.D., Lynn,A., Chakravarti,A.,
            Perrin,G. and Antonarakis,S.E.
  TITLE     Cloning of the cDNA for a human homologue of the Drosophila white
            gene and mapping to chromosome 21q22.3
  JOURNAL   Am. J. Hum. Genet. 59 (1), 66-75 (1996)
  MEDLINE   96256850
   PUBMED   8659545
REFERENCE   3  (bases 1 to 2930)
  AUTHORS   Savary,S., Denizot,F., Luciani,M., Mattei,M. and Chimini,G.
  TITLE     Molecular cloning of a mammalian ABC transporter homologous to
            Drosophila white gene
  JOURNAL   Mamm. Genome 7 (9), 673-676 (1996)
  MEDLINE   96359154
   PUBMED   8703120
REFERENCE   4  (bases 1 to 2930)
  AUTHORS   Croop,J.M., Tiller,G.E., Fletcher,J.A., Lux,M.L., Raab,E.,
            Goldenson,D., Son,D., Arciniegas,S. and Wu,R.L.
  TITLE     Isolation and characterization of a mammalian homolog of the
            Drosophila white gene
  JOURNAL   Gene 185 (1), 77-85 (1997)
  MEDLINE   97186700
   PUBMED   9034316
REFERENCE   5  (bases 1 to 2930)
  AUTHORS   Yu,W., Andersson,B., Worley,K.C., Muzny,D.M., Ding,Y., Liu,W.,
            Ricafrente,J.Y., Wentland,M.A., Lennon,G. and Gibbs,R.A.
  TITLE     Large-scale concatenation cDNA sequencing
  JOURNAL   Genome Res. 7 (4), 353-358 (1997)
  MEDLINE   97264341
   PUBMED   9110174
REFERENCE   6  (bases 1 to 2930)
  AUTHORS   Klucken,J., Buchler,C., Orso,E., Kaminski,W.E.,
            Porsch-Ozcurumez,M., Liebisch,G., Kapinsky,M., Diederich,W.,
            Drobnik,W., Dean,M., Allikmets,R. and Schmitz,G.
  TITLE     ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a
            regulator of macrophage cholesterol and phospholipid transport
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 97 (2), 817-822 (2000)
  MEDLINE   20105556
   PUBMED   10639163
REFERENCE   7  (bases 1 to 2930)
  AUTHORS   Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS,
            Toyoda A, Ishii K, Totoki Y, Choi DK, Soeda E, Ohki M, Takagi T,
            Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J,
            Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M
            and Schudy A.
  TITLE     The DNA sequence of human chromosome 21
  JOURNAL   Nature 405 (6784), 311-319 (2000)
  MEDLINE   20289799
   PUBMED   10830953
REFERENCE   8  (bases 1 to 2930)
  AUTHORS   Langmann T, Porsch-Ozcurumez M, Unkelbach U, Klucken J and Schmitz
            G.
  TITLE     Genomic organization and characterization of the promoter of the
            human ATP-binding cassette transporter-G1 (ABCG1) gene(1)
  JOURNAL   Biochim. Biophys. Acta 1494 (1-2), 175-180 (2000)
  MEDLINE   20525454
   PUBMED   11072082
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X91249.1.
            On May 24, 2000 this sequence version replaced gi:4759317.
            Summary: The protein encoded by this gene is a member of the
            superfamily of ATP-binding cassette (ABC) transporters. ABC
            proteins transport various molecules across extra- and
            intra-cellular membranes. ABC genes are divided into seven distinct
            subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This
            protein is a member of the White subfamily. It is involved in
            macrophage cholesterol efflux and may regulate cellular lipid
            homeostasis in other cell types. Several alternative splice
            variants have been identified.
            Transcript Variant: This splice variant (1) includes the
            dodecapeptide sequence absent in splice variant 2.
FEATURES             Location/Qualifiers
     source          1..2930
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..2930
                     /gene="ABCG1"
                     /note="WHITE1; ABC8"
                     /db_xref="LocusID:9619"
                     /db_xref="MIM:603076"
     CDS             31..2055
                     /gene="ABCG1"
                     /note="isoform a is encoded by transcript variant 1;
                     ATP-binding cassette 8 (homolog of Drosophila white); ABC
                     transporter 8; white protein homolog (ATP-binding cassette
                     transporter 8)"
                     /codon_start=1
                     /product="ATP-binding cassette sub-family G member 1
                     isoform a"
                     /protein_id="NP_004906.2"
                     /db_xref="GI:8051575"
                     /db_xref="LocusID:9619"
                     /db_xref="MIM:603076"
                     /translation="MAAFSVGTAMNASSYSAEMTEPKSVCVSVDEVVSSNMEATETDL
                     LNGHLKKVDNNLTEAQRFSSLPRRAAVNIEFRDLSYSVPEGPWWRKKGYKTLLKGISG
                     KFNSGELVAIMGPSGAGKSTLMNILAGYRETGMKGAVLINGLPRDLRCFRKVSCYIMQ
                     DDMLLPHLTVQEAMMVSAHLKLQEKDEGRREMVKEILTALGLLSCANTRTGSLSGGQR
                     KRLAIALELVNNPPVMFFDEPTSGLDSASCFQVVSLMKGLAQGGRSIICTIHQPSAKL
                     FELFDQLYVLSQGQCVYRGKVCNLVPYLRDLGLNCPTYHNPADFVMEVASGEYGDQNS
                     RLVRAVREGMCDSDHKRDLGGDAEVNPFLWHRPSEEVKQTKRLKGLRKDSSSMEGCHS
                     FSASCLTQFCILFKRTFLSIMRDSVLTHLRITSHIGIGLLIGLLYLGIGNETKKVLSN
                     SGFLFFSMLFLMFAALMPTVLTFPLEMGVFLREHLNYWYSLKAYYLAKTMADVPFQIM
                     FPVAYCSIVYWMTSQPSDAVRFVLFAALGTMTSLVAQSLGLLIGAASTSLQVATFVGP
                     VTAIPVLLFSGFFVSFDTIPTYLQWMSYISYVRYGFEGVILSIYGLDREDLHCDIDET
                     CHFQKSEAILRELDVENAKLYLDFIVLGIFFISLRLIAYLVLRYKIRAER"
     misc_feature    346..642
                     /gene="ABCG1"
                     /note="AAA; Region: ATPases associated with a variety of
                     cellular activities"
                     /db_xref="CDD:AAA"
     misc_feature    349..627
                     /gene="ABCG1"
                     /note="ABC_tran; Region: ABC transporter"
                     /db_xref="CDD:pfam00005"
     misc_feature    481..813
                     /gene="ABCG1"
                     /note="AAA; Region: ATPases associated with a variety of
                     cellular activities"
                     /db_xref="CDD:AAA"
     misc_feature    535..897
                     /gene="ABCG1"
                     /note="ABC_tran; Region: ABC transporter"
                     /db_xref="CDD:pfam00005"
     misc_feature    1141..1176
                     /gene="ABCG1"
                     /note="deleted in transcript variant 2; Region:
                     dodecapeptide"
     variation       357
                     /gene="ABCG1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2229411"
     variation       2427
                     /gene="ABCG1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3746913"
     variation       2457
                     /gene="ABCG1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1044317"
     variation       2457
                     /gene="ABCG1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3746914"
BASE COUNT      665 a    770 c    780 g    715 t
ORIGIN      
        1 gaattccggt ttcttcctaa aaaatgtctg atggccgctt tctcggtcgg caccgccatg
       61 aatgccagca gttactctgc agagatgacg gagcccaagt cggtgtgtgt ctcggtggat
      121 gaggtggtgt ccagcaacat ggaggccact gagacggacc tgctgaatgg acatctgaaa
      181 aaagtagata ataacctcac ggaagcccag cgcttctcct ccttgcctcg gagggcagct
      241 gtgaacattg aattcaggga cctttcctat tcggttcctg aaggaccctg gtggaggaag
      301 aaaggataca agaccctcct gaaaggaatt tccgggaagt tcaatagtgg tgagttggtg
      361 gccattatgg gtccttccgg ggccgggaag tccacgctga tgaacatcct ggctggatac
      421 agggagacgg gcatgaaggg ggccgtcctc atcaacggcc tgccccggga cctgcgctgc
      481 ttccggaagg tgtcctgcta catcatgcag gatgacatgc tgctgccgca tctcactgtg
      541 caggaggcca tgatggtgtc ggcacatctg aagcttcagg agaaggatga aggcagaagg
      601 gaaatggtca aggagatact gacagcgctg ggcttgctgt cttgcgccaa cacgcggacc
      661 gggagcctgt caggtggtca gcgcaagcgc ctggccatcg cgctggagct ggtgaacaac
      721 cctccagtca tgttcttcga tgagcccacc agcggcctgg acagcgcctc ctgcttccag
      781 gtggtctcgc tgatgaaagg gctcgctcaa gggggtcgct ccatcatttg caccatccac
      841 cagcccagcg ccaaactctt cgagctgttc gaccagcttt acgtcctgag tcaaggacaa
      901 tgtgtgtacc ggggaaaagt ctgcaatctt gtgccatatt tgagggattt gggtctgaac
      961 tgcccaacct accacaaccc agcagatttt gtcatggagg ttgcatccgg cgagtacggt
     1021 gatcagaaca gtcggctggt gagagcggtt cgggagggca tgtgtgactc agaccacaag
     1081 agagacctcg ggggtgatgc cgaggtgaac ccttttcttt ggcaccgccc ctctgaagag
     1141 gtaaagcaga caaaacgatt aaaggggttg agaaaggact cctcgtccat ggaaggctgc
     1201 cacagcttct ctgccagctg cctcacgcag ttctgcatcc tcttcaagag gaccttcctc
     1261 agcatcatga gggactcggt cctgacacac ctgcgcatca cctcgcacat tgggatcggc
     1321 ctcctcattg gcctgctgta cttggggatc gggaacgaaa ccaagaaggt cttgagcaac
     1381 tccggcttcc tcttcttctc catgctgttc ctcatgttcg cggccctcat gcctactgtt
     1441 ctgacatttc ccctggagat gggagtcttt cttcgggaac acctgaacta ctggtacagc
     1501 ctgaaggcct actacctggc caagaccatg gcagacgtgc cctttcagat catgttccca
     1561 gtggcctact gcagcatcgt gtactggatg acgtcgcagc cgtccgacgc cgtgcgcttt
     1621 gtgctgtttg ccgcgctggg caccatgacc tccctggtgg cacagtccct gggcctgctg
     1681 atcggagccg cctccacgtc cctgcaggtg gccactttcg tgggcccagt gacagccatc
     1741 ccggtgctcc tgttctcggg gttcttcgtc agcttcgaca ccatccccac gtacctacag
     1801 tggatgtcct acatctccta tgtcaggtat gggttcgaag gggtcatcct ctccatctat
     1861 ggcttagacc gggaagatct gcactgtgac atcgacgaga cgtgccactt ccagaagtcg
     1921 gaggccatcc tgcgggagct ggacgtggaa aatgccaagc tgtacctgga cttcatcgta
     1981 ctcgggattt tcttcatctc cctccgcctc attgcctatt tggtcctcag gtacaaaatc
     2041 cgggcagaga ggtaaaacac ctgaatgcca ggaaacagga agattagaca ctgtggccga
     2101 gggcacgtct agaatcgagg aggcaagcct gtgcccgacc gacgacacag agactcttct
     2161 gatccaaccc ctagaaccgc gttgggtttg tgggtgtctc gtgctcagcc actctgccca
     2221 gctgggttgg atcttctctc cattcccctt tctagcttta actaggaaga tgtaggcaga
     2281 ttggtggttt tttttttttt tttaacatac agaattttaa ataccacaac tggggcagaa
     2341 tttaaagctg caacacagct ggtgatgaga ggcttcctca gtccagtcgc tccttagcac
     2401 caggcaccgt gggtcctgga tggggaactg caagcagcct ctcagctgat ggctgcacag
     2461 tcagatgtct ggtggcagag agtccgagca tggagcgatt ccattttatg actgttgttt
     2521 ttcacatttt catctttcta aggtgtgtct cttttccaat gagaagtcat ttttgcaagc
     2581 caaaagtcga tcaatcgcat tcattttaag aaattatacc tttttagtac ttgctgaaga
     2641 atgattcagg gtaaatcaca tactttgttt agagaggcga ggggtttaac ccgagtcacc
     2701 cagctggtct catacataga cagcacttgt gaaggattga atgcaggttc caggtggagg
     2761 gaagacgtgg acaccatctc cactgagcca tgcagacatt tttaaaagct atacacaaaa
     2821 ttgtgagaag acattggcca actctttcaa agtctttctt tttccacgtg cttcttattt
     2881 taagcgaaat atattgtttg tttcttccta aaaaaaaaaa aaaaaaaaaa
//



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1: NM_004347. Homo sapiens casp...[gi:4757913] Links  


LOCUS       CASP5                   1400 bp    mRNA    linear   PRI 22-OCT-2001
DEFINITION  Homo sapiens caspase 5, apoptosis-related cysteine protease
            (CASP5), mRNA.
ACCESSION   NM_004347
VERSION     NM_004347.1  GI:4757913
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1400)
  AUTHORS   Munday,N.A., Vaillancourt,J.P., Ali,A., Casano,F.J., Miller,D.K.,
            Molineaux,S.M., Yamin,T.T., Yu,V.L. and Nicholson,D.W.
  TITLE     Molecular cloning and pro-apoptotic activity of ICErelII and
            ICErelIII, members of the ICE/CED-3 family of cysteine proteases
  JOURNAL   J. Biol. Chem. 270 (26), 15870-15876 (1995)
  MEDLINE   95318183
   PUBMED   7797592
REFERENCE   2  (bases 1 to 1400)
  AUTHORS   Nasir,J., Theilmann,J.L., Vaillancourt,J.P., Munday,N.A., Ali,A.,
            Scherer,S., Beatty,B., Nicholson,D.W. and Hayden,M.R.
  TITLE     Interleukin-1beta-converting enzyme (ICE) and related cell death
            genes ICErel-II and ICErel-III map to the same PAC clone at band
            11q22.2-22.3
  JOURNAL   Mamm. Genome 8 (8), 611-613 (1997)
  MEDLINE   97398501
   PUBMED   9250871
REFERENCE   3  (bases 1 to 1400)
  AUTHORS   Lin,X.Y., Choi,M.S. and Porter,A.G.
  TITLE     Expression analysis of the human caspase-1 subfamily reveals
            specific regulation of the CASP5 gene by lipopolysaccharide and
            interferon-gamma
  JOURNAL   J. Biol. Chem. 275 (51), 39920-39926 (2000)
  MEDLINE   20568240
   PUBMED   10986288
REFERENCE   4  (bases 1 to 1400)
  AUTHORS   Krippner-Heidenreich,A., Talanian,R.V., Sekul,R., Kraft,R.,
            Thole,H., Ottleben,H. and Luscher,B.
  TITLE     Targeting of the transcription factor Max during apoptosis:
            phosphorylation-regulated cleavage by caspase-5 at an unusual
            glutamic acid residue in position P1
  JOURNAL   Biochem. J. 358 (Pt 3), 705-715 (2001)
  MEDLINE   21426411
   PUBMED   11535131
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U28015.1.
            Summary: This gene encodes a member of the cysteine-aspartic acid
            protease (caspase) family. Sequential activation of caspases plays
            a central role in the execution-phase of cell apoptosis. Caspases
            exist as inactive proenzymes which undergo proteolytic processing
            at conserved aspartic residues to produce 2 subunits, large and
            small, that dimerize to form the active enzyme. Overexpression of
            the active form of this enzyme has been shown to induce apoptosis
            in fibroblasts. Max, a central component of the Myc/Max/Mad
            transcription regulation network important for cell growth,
            differentiation, and apoptosis, was reported to be cleaved by this
            protein, which required Fas-mediated dephosphorylation of Max. The
            expression of this gene was found to be regulated by
            interferon-gamma and lipopolysaccharide.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1400
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22.2-q22.3"
     gene            1..1400
                     /gene="CASP5"
                     /note="ICErel-III; ICE(rel)III; ICH-3"
                     /db_xref="LocusID:838"
                     /db_xref="MIM:602665"
     CDS             35..1291
                     /gene="CASP5"
                     /note="TY protease; apoptosis-related cysteine protease;
                     ICH-3 protease"
                     /codon_start=1
                     /product="caspase 5, precursor"
                     /protein_id="NP_004338.1"
                     /db_xref="GI:4757914"
                     /db_xref="LocusID:838"
                     /db_xref="MIM:602665"
                     /db_xref="LocusID:838"
                     /db_xref="MIM:602665"
                     /translation="MFKGILQSGLDNFVINHMLKNNVAGQTSIQTLVPNTDQKSTSVK
                     KDNHKKKTVKMLEYLGKDVLHGVFNYLAKHDVLTLKEEEKKKYYDAKIEDKALILVDS
                     LRKNRVAHQMFTQTLLNMDQKITSVKPLLQIEAGPPESAESTNILKLCPREEFLRLCK
                     KNHDEIYPIKKREDRRRLALIICNTKFDHLPARNGAHYDIVGMKRLLQGLGYTVVDEK
                     NLTARDMESVLRAFAARPEHKSSDSTFLVLMSHGILEGICGTAHKKKKPDVLLYDTIF
                     QIFNNRNCLSLKDKPKVIIVQACRGEKHGELWVRDSPASLAVISSQSSENLEADSVCK
                     IHEEKDFIAFCSSTPHNVSWRDRTRGSIFITELITCFQKYSCCCHLMEIFRKVQKSFE
                     VPQAKAQMPTIERATLTRDFYLFPGN"
     misc_feature    197..424
                     /gene="CASP5"
                     /note="CARD; Region: Caspase recruitment domain"
                     /db_xref="CDD:smart00114"
     misc_feature    197..424
                     /gene="CASP5"
                     /note="CARD; Region: Caspase recruitment domain. Motif
                     contained in proteins involved in apoptotic signaling.
                     Predicted to possess a DEATH (pfam00531) domain-like fold"
                     /db_xref="CDD:pfam00619"
     mat_peptide     398..967
                     /gene="CASP5"
                     /product="CASP5, large subunit"
     misc_feature    530..1282
                     /gene="CASP5"
                     /note="CASc; Region: Caspase, interleukin-1 beta
                     converting enzyme (ICE) homologues"
                     /db_xref="CDD:smart00115"
     misc_feature    557..952
                     /gene="CASP5"
                     /note="ICE_p20; Region: ICE-like protease (caspase) p20
                     domain"
                     /db_xref="CDD:pfam00656"
     mat_peptide     1025..1288
                     /gene="CASP5"
                     /product="CASP5, small subunit"
     misc_feature    1034..1282
                     /gene="CASP5"
                     /note="ICE_p10; Region: ICE-like protease (caspase) p10
                     domain"
                     /db_xref="CDD:pfam00655"
     variation       73
                     /gene="CASP5"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3181320"
     variation       302
                     /gene="CASP5"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:507879"
     variation       635
                     /gene="CASP5"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3181326"
     variation       complement(986)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3824929"
     polyA_signal    1382..1387
                     /gene="CASP5"
     polyA_site      1400
                     /gene="CASP5"
                     /evidence=experimental
BASE COUNT      462 a    315 c    295 g    328 t
ORIGIN      
        1 cggcaaaaaa aaaaggcgta agaattttga agctatgttc aaaggtatcc ttcagagtgg
       61 attggataac ttcgtgataa accacatgct aaagaacaac gtggctggac aaacatctat
      121 ccagacccta gtacctaata cggatcaaaa gtcgaccagt gtaaaaaaag acaaccacaa
      181 aaaaaaaaca gttaagatgt tggaatacct gggcaaagat gttcttcatg gtgtttttaa
      241 ttatttggca aaacacgatg ttctgacatt gaaggaagag gaaaagaaaa aatattatga
      301 tgccaaaatt gaagacaagg ccctgatctt ggtagactct ttgcgaaaga atcgcgtggc
      361 tcatcaaatg tttacccaaa cacttctcaa tatggaccaa aagatcacca gtgtaaaacc
      421 tcttctgcaa atcgaggctg gaccacctga gtcagcagaa tctacaaata tactcaaact
      481 ttgtcctcgt gaagaattcc tgagactgtg taaaaaaaat catgatgaga tctatccaat
      541 aaaaaagaga gaggaccgca gacgcctggc tctcatcata tgcaatacaa agtttgatca
      601 cctgcctgca aggaatgggg ctcactatga catcgtgggg atgaaaaggc tgcttcaagg
      661 cctgggctac actgtggttg acgaaaagaa tctcacagcc agggatatgg agtcagtgct
      721 gagggcattt gctgccagac cagagcacaa gtcctctgac agcacgttct tggtactcat
      781 gtctcatggc atcctagagg gaatctgcgg aactgcgcat aaaaagaaaa aaccggatgt
      841 gctgctttat gacaccatct tccagatatt caacaaccgc aactgcctca gtctaaagga
      901 caaacccaag gtcatcattg tccaggcctg cagaggtgaa aaacatgggg aactctgggt
      961 cagagactct ccagcatcct tggcagtcat ctcttcacag tcatctgaga acctggaggc
     1021 agattctgtt tgcaagatcc acgaggagaa ggacttcatt gctttctgtt cttcaacacc
     1081 acataacgtg tcctggagag accgcacaag gggctccatc ttcattacgg aactcatcac
     1141 atgcttccag aaatattctt gctgctgcca cctaatggaa atatttcgga aggtacagaa
     1201 atcatttgaa gttccacagg ctaaagccca gatgcccacc atagaacgag caaccttgac
     1261 aagagatttc tacctctttc ctggcaattg aaaatgaaac cacaggcagc ccagccctcc
     1321 tctgtcaaca tcaaagagca catttaccag tatagcttgc atagtcaata tttggtattt
     1381 caataaaagt aaagactgta
//



Revised: July 5, 2002.
 
 


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1: NM_014289. Homo sapiens calp...[gi:13186315] Links  


LOCUS       CAPN6                   3568 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens calpain 6 (CAPN6), mRNA.
ACCESSION   NM_014289
VERSION     NM_014289.2  GI:13186315
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3568)
  AUTHORS   Sorimachi,H., Saido,T.C. and Suzuki,K.
  TITLE     New era of calpain research. Discovery of tissue-specific calpains
  JOURNAL   FEBS Lett. 343 (1), 1-5 (1994)
  MEDLINE   94215696
   PUBMED   8163008
REFERENCE   2  (bases 1 to 3568)
  AUTHORS   Dear,N., Matena,K., Vingron,M. and Boehm,T.
  TITLE     A new subfamily of vertebrate calpains lacking a calmodulin-like
            domain: implications for calpain regulation and evolution
  JOURNAL   Genomics 45 (1), 175-184 (1997)
  MEDLINE   97480729
   PUBMED   9339374
REFERENCE   3  (bases 1 to 3568)
  AUTHORS   Matena,K., Boehm,T. and Dear,N.
  TITLE     Genomic organization of mouse Capn5 and Capn6 genes confirms that
            they are a distinct calpain subfamily
  JOURNAL   Genomics 48 (1), 117-120 (1998)
  MEDLINE   98163754
   PUBMED   9503024
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL031117.1.
            On Mar 2, 2001 this sequence version replaced gi:7656956.
            Summary: Calpains are ubiquitous, well-conserved family of
            calcium-dependent, cysteine proteases. The calpain proteins are
            heterodimers consisting of an invariant small subunit and variable
            large subunits. The large subunit possesses a cysteine protease
            domain, and both subunits possess calcium-binding domains. Calpains
            have been implicated in neurodegenerative processes, as their
            activation can be triggered by calcium influx and oxidative stress.
            The protein encoded by this gene is highly expressed in the
            placenta. Its C-terminal region lacks any homology to the
            calmodulin-like domain of other calpains. It also lacks critical
            active site residues and thus is suggested to be proteolytically
            inactive.
FEATURES             Location/Qualifiers
     source          1..3568
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq23"
     gene            1..3568
                     /gene="CAPN6"
                     /note="CANPX; CAPNX; CalpM; DJ914P14.1"
                     /db_xref="LocusID:827"
                     /db_xref="MIM:300146"
     CDS             169..2094
                     /gene="CAPN6"
                     /EC_number="3.4.22.17"
                     /note="calpain-like protease; calpamodulin"
                     /codon_start=1
                     /product="calpain 6"
                     /protein_id="NP_055104.2"
                     /db_xref="GI:13186316"
                     /db_xref="LocusID:827"
                     /db_xref="MIM:300146"
                     /translation="MGPPLKLFKNQKYQELKQECIKDSRLFCDPTFLPENDSLFYNRL
                     LPGKVVWKRPQDICDDPHLIVGNISNHQLTQGRLGHKPMVSAFSCLAVQESHWTKTIP
                     NHKEQEWDPQKTEKYAGIFHFRFWHFGEWTEVVIDDLLPTINGDLVFSFSTSMNEFWN
                     ALLEKAYAKLLGCYEALDGLTITDIIVDFTGTLAETVDMQKGRYTELVEEKYKLFGEL
                     YKTFTKGGLICCSIESPNQEEQEVETDWGLLKGHTYTMTDIRKIRLGERLVEVFSAEK
                     VYMVRLRNPLGRQEWSGPWSEISEEWQQLTASDRKNLGLVMSDDGEFWMSLEDFCRNF
                     HKLNVCRNVNNPIFGRKELESVLGCWTVDDDPLMNRSGGCYNNRDTFLQNPQYIFTVP
                     EDGHKVIMSLQQKDLRTYRRMGRPDNYIIGFELFKVEMNRKFRLHHLYIQERAGTSTY
                     IDTRTVFLSKYLKKGNYVLVPTMFQHGRTSEFLLRIFSEVPVQLRELTLDMPKMSCWN
                     LARGYPKVVTQITVHSAEDLEKKYANETVNPYLVIKCGKEEVRSPVQKNTVHAIFDTQ
                     AIFYRRTTDIPIIVQVWNSRKFCDQFLGQVTLDADPSDCRDLKSLYLRKKGGPTAKVK
                     QGHISFKVISSDDLTEL"
     misc_feature    190..1218
                     /gene="CAPN6"
                     /note="Region: smart00230, CysPc, Calpain-like thiol
                     protease family; Calpain-like thiol protease family
                     (peptidase family C2). Calcium activated neutral protease
                     (large subunit)"
     misc_feature    244..1188
                     /gene="CAPN6"
                     /note="Region: pfam00648, Peptidase_C2, Calpain family
                     cysteine protease"
     misc_feature    1216..1653
                     /gene="CAPN6"
                     /note="Region: pfam01067, Calpain_III, Calpain large
                     subunit, domain III. The function of the domain III and I
                     are currently unknown. Domain II is a cysteine protease
                     and domain IV is a calcium binding domain. Calpains are
                     believed to participate in intracellular signaling
                     pathways mediated by calcium ions"
     misc_feature    1216..1647
                     /gene="CAPN6"
                     /note="Region: smart00720, calpain_III, calpain_III
                     domain"
     misc_feature    1726..1965
                     /gene="CAPN6"
                     /note="Region: smart00239, C2, Protein kinase C conserved
                     region 2 (CalB); Ca2+-binding motif present in
                     phospholipases, protein kinases C, and synaptotamins
                     (among others). Some do not appear to contain Ca2+-binding
                     sites. Particular C2s appear to bind phospholipids,
                     inositol polyphosphates, and intracellular proteins.
                     Unusual occurrence in perforin. Synaptotagmin and PLC C2s
                     are permuted in sequence with respect to N- and C-terminal
                     beta strands. SMART detects C2 domains using one or both
                     of two profiles"
     misc_feature    1726..1959
                     /gene="CAPN6"
                     /note="Region: pfam00168, C2, C2 domain"
     variation       2698
                     /gene="CAPN6"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:11241"
BASE COUNT      969 a    911 c    798 g    890 t
ORIGIN      
        1 atagttttca ggttaagaaa gccagaatct ttgttcagcc acactgactg aacagacttt
       61 tagtggggtt acctggctaa cagcagcagc ggcaacggca gcagcagcag cagcagcagc
      121 agcagcagca gcagggctcc tgggataact caggcatagt tcaacactat gggtcctcct
      181 ctgaagctct tcaaaaacca gaaataccag gaactgaagc aggaatgcat caaagacagc
      241 agacttttct gtgatccaac atttctgcct gagaatgatt ctcttttcta caaccgactg
      301 cttcctggaa aggtggtgtg gaaacgtccc caggacatct gtgatgaccc ccatctgatt
      361 gtgggcaaca ttagcaacca ccagctgacc caagggagac tggggcacaa gccaatggtt
      421 tctgcatttt cctgtttggc tgttcaggag tctcattgga caaagacaat tcccaaccat
      481 aaggaacagg aatgggaccc tcaaaaaaca gaaaaatacg ctgggatatt tcactttcgt
      541 ttctggcatt ttggagaatg gactgaagtg gtgattgatg acttgttgcc caccattaac
      601 ggagatctgg tcttctcttt ctccacttcc atgaatgagt tttggaatgc tctgctggaa
      661 aaagcttatg caaagctgct aggctgttat gaggccctgg atggtttgac catcactgat
      721 attattgtgg acttcacggg cacattggct gaaactgttg acatgcagaa aggaagatac
      781 actgagcttg ttgaggagaa gtacaagcta ttcggagaac tgtacaaaac atttaccaaa
      841 ggtggtctga tctgctgttc cattgagtct cccaatcagg aggagcaaga agttgaaact
      901 gattggggtc tgctgaaggg ccatacctat accatgactg atattcgcaa aattcgtctt
      961 ggagagagac ttgtggaagt cttcagtgct gagaaggtgt atatggttcg cctgagaaac
     1021 cccttgggaa gacaggaatg gagtggcccc tggagtgaaa tttctgaaga gtggcagcaa
     1081 ctgactgcat cagatcgcaa gaacctgggg cttgttatgt ctgatgatgg agagttttgg
     1141 atgagcttgg aggacttttg ccgcaacttt cacaaactga atgtctgccg caatgtgaac
     1201 aaccctattt ttggccgaaa ggagctggaa tcggtgttgg gatgctggac tgtggatgat
     1261 gatcccctga tgaaccgctc aggaggctgc tataacaacc gtgatacctt cctgcagaat
     1321 ccccagtaca tcttcactgt gcctgaggat gggcacaagg tcattatgtc actgcagcag
     1381 aaggacctgc gcacttaccg ccgaatggga agacctgaca attacatcat tggctttgag
     1441 ctcttcaagg tggagatgaa ccgcaaattc cgcctccacc acctctacat ccaggagcgt
     1501 gctgggactt ccacctatat tgacacccgc acagtgtttc tgagcaagta cctgaagaag
     1561 ggcaactatg tgcttgtccc aaccatgttc cagcatggtc gcaccagcga gtttctcctg
     1621 agaatcttct ctgaagtgcc tgtccagctc agggaactga ctctggacat gcccaaaatg
     1681 tcctgctgga acctggctcg tggctacccg aaagtagtta ctcagatcac tgttcacagt
     1741 gctgaggacc tggagaagaa gtatgccaat gaaactgtaa acccatattt ggtcatcaaa
     1801 tgtggaaagg aggaagtccg ttctcctgtc cagaagaata cagttcatgc catttttgac
     1861 acccaggcca ttttctacag aaggaccact gacattccta ttatagtaca ggtctggaac
     1921 agccgaaaat tctgtgatca gttcttgggg caggttactc tggatgctga ccccagcgac
     1981 tgccgtgatc tgaagtctct gtacctgcgt aagaagggtg gtccaactgc caaagtcaag
     2041 caaggccaca tcagcttcaa ggttatttcc agcgatgatc tcactgagct ctaaatctgc
     2101 aatcccagag aatcctgaca aagcgtgcca cccttttatt ttccgtcagg tgccaggtct
     2161 tagttaagat tcacaatctt tagaaagaat gagattcaca ataattaact cttcctctct
     2221 tctgataaat tccccatacc tcccaatcca agtagcatct gtagctacat aacctatata
     2281 cctccagcag ctggacatgg ggaggcgaca gtcctatcta gacatcatac acatttgcca
     2341 agaaaggatc tctggggctt ccgggggtga gattcaagca ggacaataac aagaggctgg
     2401 acaccctaca gatgtctttg atgttttcag ttgtttgata tatctcccct gtagggcatg
     2461 ttgaggaagg aggagggctg atcaaggcca agctggtcta gcctgacatc ctagctcctg
     2521 actgaacact atagacttcc cagcagcatt tcacccagca gccagagccg gctttaagtc
     2581 cccaaccctt acagacacca ctgccaccac caccaaccac gaccaccacc accaccacca
     2641 ctcaccacca tcatcacctc cggaaagtgt agtcctgccc taacccaagt cacccccgac
     2701 agtaaatttt accttcatgt tgagaaagct tcctggtgct taatcaagag ctggagttca
     2761 atgagtccta gacagtgaga ggggcctgag cttcagctca atggaagcct gctgtgtgcc
     2821 acaagacgga aaagtggaag aagctgcagt gggagacaaa gcctcggtcc cccacccatc
     2881 cacacacacc tacactcaca cacgcgcaca tgggcgcgca cgaactacca ttcaggcagt
     2941 cagtgggcaa gaggaaagat aagtaagtac catacacacc taaaagatga gagaattcat
     3001 ccagacatat tacagccagt ttggggcccc tgactgcaat gtgaaacctc tcgctgctgc
     3061 taggtttaca aacaagccca ttgtcctgtg cctcctaata tcatttgtac tgaagacccc
     3121 atctggggac ttgagacttt ggtcccagcc cagactcctc agacttttct ctcagttggg
     3181 atgcttcact cgctgggggt gtttgtttgc cctctcattt ttcagtactt ctacagaatt
     3241 ttctctagag tcagtcatta tgaaatgtac ttccctccat cttaacctat caactttctg
     3301 cccctccttc aaggcccagt ataaatgcca cctcctccat gaagccttcc ctaattccac
     3361 cccaaacccc caccttcaac aatatttcaa cgcttctgca atgatgaaaa agaaacatag
     3421 ttgtagtact tagcctacct agaccagcaa gcattcattt ttagctcgct cattttttac
     3481 catgttttcc agtctgttta acttctgcag tgccttcact acactgcctt acataaacca
     3541 aatcacaata aagttcatat tcagtaca
//



Revised: July 5, 2002.
 
 


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1: NM_014164. Homo sapiens FXYD...[gi:21618360] Links  


LOCUS       FXYD5                    946 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens FXYD domain containing ion transport regulator 5
            (FXYD5), mRNA.
ACCESSION   NM_014164
VERSION     NM_014164.3  GI:21618360
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 946)
  AUTHORS   Adams,M.D., Kerlavage,A.R., Fleischmann,R.D., Fuldner,R.A.,
            Bult,C.J., Lee,N.H., Kirkness,E.F., Weinstock,K.G., Gocayne,J.D.,
            White,O. et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
  MEDLINE   96026280
   PUBMED   7566098
REFERENCE   2  (bases 1 to 946)
  AUTHORS   Sweadner,K.J. and Rael,E.
  TITLE     The FXYD gene family of small ion transport regulators or channels:
            cDNA sequence, protein signature sequence, and expression
  JOURNAL   Genomics 68 (1), 41-56 (2000)
  MEDLINE   20408885
   PUBMED   10950925
REFERENCE   3  (bases 1 to 946)
  AUTHORS   Zhang,Q.H., Ye,M., Wu,X.Y., Ren,S.X., Zhao,M., Zhao,C.J., Fu,G.,
            Shen,Y., Fan,H.Y., Lu,G., Zhong,M., Xu,X.R., Han,Z.G., Zhang,J.W.,
            Tao,J., Huang,Q.H., Zhou,J., Hu,G.X., Gu,J., Chen,S.J. and Chen,Z.
  TITLE     Cloning and functional analysis of cDNAs with open reading frames
            for 300 previously undefined genes expressed in CD34+ hematopoietic
            stem/progenitor cells
  JOURNAL   Genome Res. 10 (10), 1546-1560 (2000)
  MEDLINE   20499367
   PUBMED   11042152
REFERENCE   4  (bases 1 to 946)
  AUTHORS   Omasa,T., Chen,Y.G., Mantalaris,A. and Wu,J.H.
  TITLE     A cDNA from human bone marrow encoding a protein exhibiting
            homology to the ATP1gamma1/PLM/MAT8 family of transmembrane
            proteins
  JOURNAL   Biochim. Biophys. Acta 1517 (2), 307-310 (2001)
  MEDLINE   21240216
   PUBMED   11342114
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF161462.1, AA044211.1,
            AA296696.1 and BG025158.1.
            On Jun 27, 2002 this sequence version replaced gi:11612664.
            Summary: This reference sequence was derived from AF161462.1 and
            ESTs; validated by multiple replicate ESTs and human genomic
            sequence. This gene encodes a member of a family of small membrane
            proteins that share a 35-amino acid signature sequence domain,
            beginning with the sequence PFXYD and containing 7 invariant and 6
            highly conserved amino acids. The approved human gene nomenclature
            for the family is FXYD-domain containing ion transport regulator.
            Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2,
            also known as the gamma subunit of the Na,K-ATPase, regulates the
            properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma),
            FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to
            induce channel activity in experimental expression systems.
            Transmembrane topology has been established for two family members
            (FXYD1 and FXYD2), with the N-terminus extracellular and the
            C-terminus on the cytoplasmic side of the membrane. This gene
            product, FXYD5, has not been characterized as a protein. [RefSeq
            curation by Kathleen J. Sweadner, Ph.D.,
            sweadner@helix.mgh.harvard.edu.].
FEATURES             Location/Qualifiers
     source          1..946
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q12-q13.1"
     gene            1..946
                     /gene="FXYD5"
                     /note="RIC; IWU1; IWU-1; dysad; HSPC113"
                     /db_xref="LocusID:53827"
                     /db_xref="MIM:606669"
     CDS             143..679
                     /gene="FXYD5"
                     /note="dysadherin"
                     /codon_start=1
                     /product="FXYD domain-containing ion transport regulator
                     5"
                     /protein_id="NP_054883.3"
                     /db_xref="GI:21618361"
                     /db_xref="LocusID:53827"
                     /db_xref="MIM:606669"
                     /translation="MSPSGRLCLLTIVGLILPTRGQTLKDTTSSSSADSTIMDIQVPT
                     RAPDAVYTELQPTSPTPTWPADETPQPQTQTQQLEGTDGPLVTDPETHKSTKAAHPTD
                     DTTTLSERPSPSTDVQTDPQTLKPSGFHEDDPFFYDEHTLRKRGLLVAAVLFITGIII
                     LTSGKCRQLSRLCRNRCR"
     misc_feature    533..670
                     /gene="FXYD5"
                     /note="Region: pfam02038, ATP1G1_PLM_MAT8, ATP1G1/PLM/MAT8
                     family"
     misc_feature    545..646
                     /gene="FXYD5"
                     /note="Region: FXYD domain"
     variation       319
                     /gene="FXYD5"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1128882"
     variation       319
                     /gene="FXYD5"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3186204"
     variation       669
                     /gene="FXYD5"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:12110"
     variation       707
                     /gene="FXYD5"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1046294"
     variation       complement(831)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3458"
     variation       913
                     /gene="FXYD5"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1046345"
     polyA_site      946
                     /gene="FXYD5"
                     /evidence=experimental
BASE COUNT      219 a    341 c    223 g    163 t
ORIGIN      
        1 ggaaacccaa gaggaaatga ctgagcccgt ctgggtcccc gcccgctcgc gctcccctgg
       61 ccacaccctc cgcctggacg cagcagccac cgccgcgtcc ctctctccac gaggctgccg
      121 gcttaggacc cccagctccg acatgtcgcc ctctggtcgc ctgtgtcttc tcaccatcgt
      181 tggcctgatt ctccccacca gaggacagac gttgaaagat accacgtcca gttcttcagc
      241 agactcaact atcatggaca ttcaggtccc gacacgagcc ccagatgcag tctacacaga
      301 actccagccc acctctccaa ccccaacctg gcctgctgat gaaacaccac aaccccagac
      361 ccagacccag caactggaag gaacggatgg gcctctagtg acagatccag agacacacaa
      421 gagcaccaaa gcagctcatc ccactgatga caccacgacg ctctctgaga gaccatcccc
      481 aagcacagac gtccagacag acccccagac cctcaagcca tctggttttc atgaggatga
      541 ccccttcttc tatgatgaac acaccctccg gaaacggggg ctgttggtcg cagctgtgct
      601 gttcatcaca ggcatcatca tcctcaccag tggcaagtgc aggcagctgt cccggttatg
      661 ccggaatcgt tgcaggtgag tccatcagaa acaggagctg acaacctgct gggcacccga
      721 agaccaagcc ccctgccagc tcaccgtgcc cagcctcctg catcccctcg aagagcctgg
      781 ccagagaggg aagacacaga tgatgaagct ggagccaggg ctgccggtcc gagtctccta
      841 cctcccccaa ccctgcccgc ccctgaaggc tacctggcgc cttgggggct gtccctcaag
      901 ttatctcctc tgctaagaca aaaagtaaag cactgtggtc tttgcc
//



Revised: July 5, 2002.
 
 


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1: NM_000609. Homo sapiens stro...[gi:10834987] Links  


LOCUS       SDF1                    3541 bp    mRNA    linear   PRI 28-AUG-2002
DEFINITION  Homo sapiens stromal cell-derived factor 1 (SDF1), mRNA.
ACCESSION   NM_000609
VERSION     NM_000609.1  GI:10834987
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3541)
  AUTHORS   Shirozu,M., Nakano,T., Inazawa,J., Tashiro,K., Tada,H.,
            Shinohara,T. and Honjo,T.
  TITLE     Structure and chromosomal localization of the human stromal
            cell-derived factor 1 (SDF1) gene
  JOURNAL   Genomics 28 (3), 495-500 (1995)
  MEDLINE   96039262
   PUBMED   7490086
REFERENCE   2  (bases 1 to 3541)
  AUTHORS   Bleul,C.C., Farzan,M., Choe,H., Parolin,C., Clark-Lewis,I.,
            Sodroski,J. and Springer,T.A.
  TITLE     The lymphocyte chemoattractant SDF-1 is a ligand for LESTR/fusin
            and blocks HIV-1 entry
  JOURNAL   Nature 382 (6594), 829-833 (1996)
  MEDLINE   96351077
   PUBMED   8752280
REFERENCE   3  (bases 1 to 3541)
  AUTHORS   Rubbert,A., Combadiere,C., Ostrowski,M., Arthos,J., Dybul,M.,
            Machado,E., Cohn,M.A., Hoxie,J.A., Murphy,P.M., Fauci,A.S. and
            Weissman,D.
  TITLE     Dendritic cells express multiple chemokine receptors used as
            coreceptors for HIV entry
  JOURNAL   J. Immunol. 160 (8), 3933-3941 (1998)
  MEDLINE   98217183
   PUBMED   9558100
REFERENCE   4  (bases 1 to 3541)
  AUTHORS   Zaitseva,M.B., Lee,S., Rabin,R.L., Tiffany,H.L., Farber,J.M.,
            Peden,K.W., Murphy,P.M. and Golding,H.
  TITLE     CXCR4 and CCR5 on human thymocytes: biological function and role in
            HIV-1 infection
  JOURNAL   J. Immunol. 161 (6), 3103-3113 (1998)
  MEDLINE   98414309
   PUBMED   9743377
REFERENCE   5  (bases 1 to 3541)
  AUTHORS   Weber,K.S., Klickstein,L.B. and Weber,C.
  TITLE     Specific activation of leukocyte beta2 integrins lymphocyte
            function-associated antigen-1 and Mac-1 by chemokines mediated by
            distinct pathways via the alpha subunit cytoplasmic domains
  JOURNAL   Mol. Biol. Cell 10 (4), 861-873 (1999)
  MEDLINE   99213982
   PUBMED   10198043
REFERENCE   6  (bases 1 to 3541)
  AUTHORS   Su,S.B., Gong,W., Grimm,M., Utsunomiya,I., Sargeant,R.,
            Oppenheim,J.J. and Ming Wang,J.
  TITLE     Inhibition of tyrosine kinase activation blocks the down-regulation
            of CXC chemokine receptor 4 by HIV-1 gp120 in CD4+ T cells
  JOURNAL   J. Immunol. 162 (12), 7128-7132 (1999)
  MEDLINE   99288069
   PUBMED   10358157
REFERENCE   7  (bases 1 to 3541)
  AUTHORS   Kozak,S.L., Kuhmann,S.E., Platt,E.J. and Kabat,D.
  TITLE     Roles of CD4 and coreceptors in binding, endocytosis, and
            proteolysis of gp120 envelope glycoproteins derived from human
            immunodeficiency virus type 1
  JOURNAL   J. Biol. Chem. 274 (33), 23499-23507 (1999)
  MEDLINE   99367483
   PUBMED   10438529
REFERENCE   8  (bases 1 to 3541)
  AUTHORS   Vicente-Manzanares,M., Rey,M., Jones,D.R., Sancho,D., Mellado,M.,
            Rodriguez-Frade,J.M., del Pozo,M.A., Yanez-Mo,M., de Ana,A.M.,
            Martinez-A,C., Merida,I. and Sanchez-Madrid,F.
  TITLE     Involvement of phosphatidylinositol 3-kinase in stromal
            cell-derived factor-1 alpha-induced lymphocyte polarization and
            chemotaxis
  JOURNAL   J. Immunol. 163 (7), 4001-4012 (1999)
  MEDLINE   99421856
   PUBMED   10491003
REFERENCE   9  (bases 1 to 3541)
  AUTHORS   Sotsios,Y., Whittaker,G.C., Westwick,J. and Ward,S.G.
  TITLE     The CXC chemokine stromal cell-derived factor activates a
            Gi-coupled phosphoinositide 3-kinase in T lymphocytes
  JOURNAL   J. Immunol. 163 (11), 5954-5963 (1999)
  MEDLINE   20040387
   PUBMED   10570282
REFERENCE   10 (bases 1 to 3541)
  AUTHORS   Lalani,A.S., Masters,J., Zeng,W., Barrett,J., Pannu,R., Everett,H.,
            Arendt,C.W. and McFadden,G.
  TITLE     Use of chemokine receptors by poxviruses
  JOURNAL   Science 286 (5446), 1968-1971 (1999)
  MEDLINE   20050961
   PUBMED   10583963
REFERENCE   11 (bases 1 to 3541)
  AUTHORS   Luttichau,H.R., Stine,J., Boesen,T.P., Johnsen,A.H., Chantry,D.,
            Gerstoft,J. and Schwartz,T.W.
  TITLE     A highly selective CC chemokine receptor (CCR)8 antagonist encoded
            by the poxvirus molluscum contagiosum
  JOURNAL   J. Exp. Med. 191 (1), 171-180 (2000)
  MEDLINE   20088902
   PUBMED   10620615
REFERENCE   12 (bases 1 to 3541)
  AUTHORS   Cheng,Z.J., Zhao,J., Sun,Y., Hu,W., Wu,Y.L., Cen,B., Wu,G.X. and
            Pei,G.
  TITLE     beta-arrestin differentially regulates the chemokine receptor
            CXCR4-mediated signaling and receptor internalization, and this
            implicates multiple interaction sites between beta-arrestin and
            CXCR4
  JOURNAL   J. Biol. Chem. 275 (4), 2479-2485 (2000)
  MEDLINE   20112807
   PUBMED   10644702
REFERENCE   13 (bases 1 to 3541)
  AUTHORS   Ghezzi,S., Noonan,D.M., Aluigi,M.G., Vallanti,G., Cota,M.,
            Benelli,R., Morini,M., Reeves,J.D., Vicenzi,E., Poli,G. and
            Albini,A.
  TITLE     Inhibition of CXCR4-dependent HIV-1 infection by extracellular
            HIV-1 Tat
  JOURNAL   Biochem. Biophys. Res. Commun. 270 (3), 992-996 (2000)
  MEDLINE   20237116
   PUBMED   10772939
REFERENCE   14 (bases 1 to 3541)
  AUTHORS   Poznansky,M.C., Olszak,I.T., Foxall,R., Evans,R.H., Luster,A.D. and
            Scadden,D.T.
  TITLE     Active movement of T cells away from a chemokine
  JOURNAL   Nat. Med. 6 (5), 543-548 (2000)
  MEDLINE   20264563
   PUBMED   10802710
REFERENCE   15 (bases 1 to 3541)
  AUTHORS   Bajetto,A., Barbero,S., Bonavia,R., Piccioli,P., Pirani,P.,
            Florio,T. and Schettini,G.
  TITLE     Stromal cell-derived factor-1alpha induces astrocyte proliferation
            through the activation of extracellular signal-regulated kinases
            1/2 pathway
  JOURNAL   J. Neurochem. 77 (5), 1226-1236 (2001)
  MEDLINE   21283069
   PUBMED   11389173
REFERENCE   16 (bases 1 to 3541)
  AUTHORS   Spotila,L.D.
  TITLE     Novel sequences expressed by mineralizing human osteoblasts in
            culture
  JOURNAL   Unpublished
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from U16752.1.
            Summary: For background information on chemokines, see CXCL11
            (SCYB11; MIM 604852). Stromal cell-derived factors 1-alpha and
            1-beta are small cytokines that belong to the intercrine family,
            members of which activate leukocytes and are often induced by
            proinflammatory stimuli such as lipopolysaccharide, TNF (see MIM
            191160), or IL1 (see MIM 147760). The intercrines are characterized
            by the presence of 4 conserved cysteines which form 2 disulfide
            bonds. They can be classified into 2 subfamilies. In the CC
            subfamily, which includes beta chemokine, the cysteine residues are
            adjacent to each other. In the CXC subfamily, which includes alpha
            chemokine, they are separated by an intervening amino acid. The
            SDF1 proteins belong to the latter group.[supplied by OMIM].
FEATURES             Location/Qualifiers
     source          1..3541
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.1"
                     /clone="sdf5-8.7"
                     /cell_type="fibroblast"
                     /clone_lib="lambda ZAP human fibroblast cDNA library"
                     /note="a shorter clone with an identical sequence was
                     purified from a human osteoblast cDNA library"
     gene            1..3541
                     /gene="SDF1"
                     /note="SDF1A; SDF1B; CXCL12; SCYB12"
                     /db_xref="LocusID:6387"
                     /db_xref="MIM:600835"
     CDS             81..362
                     /gene="SDF1"
                     /codon_start=1
                     /product="stromal cell-derived factor 1"
                     /protein_id="NP_000600.1"
                     /db_xref="GI:10834988"
                     /db_xref="LocusID:6387"
                     /db_xref="MIM:600835"
                     /translation="MNAKVVVVLVLVLTALCLSDGKPVSLSYRCPCRFFESHVARANV
                     KHLKILNTPNCALQIVARLKNNNRQVCIDPKLKWIQEYLEKALNKRFKM"
     misc_feature    150..335
                     /gene="SDF1"
                     /note="Region: pfam00048, IL8, Small cytokines
                     (intecrine/chemokine), interleukin-8 like. Includes a
                     number of secreted growth factors and interferons involved
                     in mitogenic, chemotactic, and inflammatory activity.
                     Structure contains two highly conserved disulfide bonds"
     misc_feature    159..335
                     /gene="SDF1"
                     /note="Region: smart00199, SCY, Intercrine alpha family
                     (small cytokine C-X-C) (chemokine CXC); Family of
                     cytokines involved in cell-specific chemotaxis, mediation
                     of cell growth, and the inflammatory response"
     variation       882
                     /gene="SDF1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1801157"
     variation       complement(1056)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:169097"
     variation       complement(1370)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3740085"
     variation       1989
                     /gene="SDF1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1029153"
     variation       2508
                     /gene="SDF1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2839696"
     variation       complement(2860)
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:266092"
     variation       complement(2927)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:266093"
     variation       complement(2927)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3819014"
     variation       3159
                     /gene="SDF1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1065297"
     variation       3383
                     /gene="SDF1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:10347"
     variation       3398
                     /gene="SDF1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:7777"
BASE COUNT      912 a    875 c    799 g    935 t     20 others
ORIGIN      
        1 cgcggccgca gccgcattgc ccgctcggcg tccggccccc gacccgcgct cgtccgcccg
       61 cccgcccgcc cgcccgcgcc atgaacgcca aggtcgtggt cgtgctggtc ctcgtgctga
      121 ccgcgctctg cctcagcgac gggaagcccg tcagcctgag ctacagatgc ccatgccgat
      181 tcttcgaaag ccatgttgcc agagccaacg tcaagcatct caaaattctc aacactccaa
      241 actgtgccct tcagattgta gcccggctga agaacaacaa cagacaagtg tgcattgacc
      301 cgaagctaaa gtggattcag gagtacctgg agaaagcttt aaacaagagg ttcaagatgt
      361 gagagggtca gacgcctgag gaacccttac agtaggagtc cagctctgaa accagtgtta
      421 gggaagggcc tgccacagcc tcccctgcca gggcagggcc ccaggcattg ccaagggctt
      481 tgttttggac actttgccat attttcacca tttgattatg tagcaaaata catgacattt
      541 atttttcatt tagtttgatt attcagtgtc actggcgaca cgtagcagct tagactaagg
      601 ccattattgt acttgcctta ttagagtgtc tttccacgga gccactcctc tgactcaggg
      661 ctcctgggtt ttggattctc tgagctgtgc aggtggggag actgggctga gggagcctgg
      721 ccccatggtc agccctaggg tggagagcca ccaagaggga cgcctggggg tgtcaggacc
      781 agtcaacctg ggcaaagcct agtgaaggct tctctctgtg ggatgggatg gtggagggcc
      841 acatgggagg ttcaccccct tctccatcca catggtgagc cgggtctgcc tcttctggga
      901 gggcagcagg gctaccctga gctgaggcag cagtgtgagg ccagggcaga gtgagaccca
      961 gccctcatcc cgagcacctc cacatcctcc acgttctgct catcattctc tgtctcatcc
     1021 atcatcatgt gtgtccacga ctgtctccat ggccccgcaa aaggactctc aggaccaaag
     1081 ctttcatgta aactgtgcac caagcaggaa atgaaaatgt cttgtgttac ctgaaaacac
     1141 tgtgcacatc tgtgtcttgt ttggaatatt gtccattgtc caatcctatg tttttggtca
     1201 aagccagcgt cctcctctgt gaccaatgtc ttgatgcatg cactgttccc cctgtgcagc
     1261 cgctgagcga ggagatgctc cntgggccct ttgagtgcag tcctgatcag agccgtggtc
     1321 ctttggggtg aactaccttg gttcccccac tgatcacaaa aacatggtgg gtccatgggc
     1381 agagcccaag ggaattcggt gtgcaccagg gttgacccca gaggattgct gccccatcag
     1441 tgctccctca catgtcagta ccttcaaact agggccaagc ccagcactgc ttgaggaaaa
     1501 caagcattca caacttgttt tnggttttta aaacccagtc cacaaaataa ccaatcctgg
     1561 acatgaagat tctttcccaa ttcacatcta acctcatctt cttcaccatt tggcaatgcc
     1621 atcatctcct gccttcctcc tgggccctct ctgctctgcg tgtcacctgt gcttcgggcc
     1681 cttcccacag gacatttctc taagagaaca atgtgctatg tgaagagtaa gtcaacctgc
     1741 ctgacatttg gagtgttccc cttccactga gggcagtcga tagagctgta ttaagccact
     1801 taaaatgttt gtcactttgc caaggcaagc acttgtgggn nttgnttgtt ntcantcagt
     1861 cttncgaata ctttttcccc ttgataaaga ctccagttaa aanaaatttt aatgaagaaa
     1921 gtggaaacaa ggaagtcaaa gcaaggaaac tatgtaacat gtaggaagta ggaagtaaat
     1981 tatagtgatg taatcttgaa ttgtaactgt tcttgaattt aataatctgt agggtaatta
     2041 gtaacatgtg ttaagtattt tcataagtat ttcaaattgg agcttcatgg cagaaggcaa
     2101 acccatcanc aaaaattgtc ccttaaacaa aaattaaaat cctcaatcca gctatgttat
     2161 attgaaaaaa tagagcctga gggatcttta ctagttataa agatacagaa ctctttcnaa
     2221 accttttgaa attaacctct cactatacca gtataattga gttttcagtg gggcagtcat
     2281 tatccaggta atccaagata ttttaaaatc tgtcacgtag aacttggatg tacctgcccc
     2341 caatccatga accaagacca ttgaattctt ggttgaggaa acaaacatga ccctaaatct
     2401 tgactacagt caggaaagga atcatttcta tttctcctcc atgggagaaa atagataaga
     2461 gtagaaactg cagggnaaaa ttatttgnat aacaattcct ctactaacaa tcagctcctt
     2521 cctggagact gcccagctaa agcaatatgc atttaaatac agtcttccat ttgnaaggga
     2581 aaagtctctt gtaatccgaa tctctttttg gtttcgaact gctagtcaag tgcgtccacg
     2641 agctgtttac tagggatccc tcatctgtcc ctccgggacc tggtgctgcc tctacctgac
     2701 actcccttgg gctccctgta acctcttcag aggncctcgc tgccagctct gtntcaggac
     2761 ccagaggaag gggncagagg ctcgttgact ggctgtgtgt tgggattgag tctgtgccac
     2821 gtgtttgtgc tgtggtgtgt cccctctgtc caggcactga gataccagcg aggaggctcc
     2881 agagggcgct ctgcttgtta ttagagatta cctcctgaga aaaaaggttc cgcttggagc
     2941 agaggggctg aatagcagaa ggttgcacct cccccaacct tagatgttct aagtctttcc
     3001 attggatctc attggaccct tccatggtgt gatcgtctga ctggtgttat caccgtgggc
     3061 tccctgactg ggagttgatc gcctttccca ggtgctacac ccttttccag ctggatgaga
     3121 atttgagtgc tctgatccct ctacagagct tccctgactc attctgaagg agccccattc
     3181 ctgggaaata ttccctagaa acttccaaat cccctaagca gaccactgat aaaaccatgt
     3241 agaaaatttg ttattttgna acctcgctgg actctcagtc tctgagcagt gaatgattca
     3301 gtgttaaatg tgatgaatac tgtattttgt attgtttcaa ttgcatctcc cagataatgt
     3361 gaaaatggtc caggagaagg ncaattccta tacgcagngt gctttaaaaa ataaataaga
     3421 aacaactctt tgagaaacaa caatttctac tttgaagtca taccaatgaa aaaatgtata
     3481 tgcacttata attttcctaa taaagttctg tactcaaatg taaaaaaaaa aaaaaaaaaa
     3541 a
//



Revised: July 5, 2002.
 
 


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1: NM_004048. Homo sapiens beta...[gi:4757825] Links  


LOCUS       B2M                      925 bp    mRNA    linear   PRI 25-JUL-2002
DEFINITION  Homo sapiens beta-2-microglobulin (B2M), mRNA.
ACCESSION   NM_004048
VERSION     NM_004048.1  GI:4757825
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 925)
  AUTHORS   Connors,L.H., Shirahama,T., Skinner,M., Fenves,A. and Cohen,A.S.
  TITLE     In vitro formation of amyloid fibrils from intact beta
            2-microglobulin
  JOURNAL   Biochem. Biophys. Res. Commun. 131 (3), 1063-1068 (1985)
  MEDLINE   86025565
   PUBMED   2413854
REFERENCE   2  (bases 1 to 925)
  AUTHORS   Wang,Z., Cao,Y., Albino,A.P., Zeff,R.A., Houghton,A. and Ferrone,S.
  TITLE     Lack of HLA class I antigen expression by melanoma cells SK-MEL-33
            caused by a reading frameshift in beta 2-microglobulin messenger
            RNA
  JOURNAL   J. Clin. Invest. 91 (2), 684-692 (1993)
  MEDLINE   93163363
   PUBMED   8432869
REFERENCE   3  (bases 1 to 925)
  AUTHORS   Kad,N.M., Thomson,N.H., Smith,D.P., Smith,D.A. and Radford,S.E.
  TITLE     Beta(2)-microglobulin and its deamidated variant, N17D form amyloid
            fibrils with a range of morphologies in vitro
  JOURNAL   J. Mol. Biol. 313 (3), 559-571 (2001)
  MEDLINE   21534733
   PUBMED   11676539
REFERENCE   4  (bases 1 to 925)
  AUTHORS   Matsumoto,K. and Minamitani,T.
  TITLE     Human mRNA for beta 2-microglobulin
  JOURNAL   Published Only in DataBase (1998)
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AB021288.1.
FEATURES             Location/Qualifiers
     source          1..925
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21-q22.2"
                     /cell_line="HeLa"
                     /clone_lib="HeLa cDNA library"
     gene            1..925
                     /gene="B2M"
                     /db_xref="LocusID:567"
                     /db_xref="MIM:109700"
     CDS             14..373
                     /gene="B2M"
                     /codon_start=1
                     /product="beta-2-microglobulin"
                     /protein_id="NP_004039.1"
                     /db_xref="GI:4757826"
                     /db_xref="LocusID:567"
                     /db_xref="MIM:109700"
                     /translation="MSRSVALAVLALLSLSGLEAIQRTPKIQVYSRHPAENGKSNFLN
                     CYVSGFHPSDIEVDLLKNGERIEKVEHSDLSFSKDWSFYLLYYTEFTPTEKDEYACRV
                     NHVTLSQPKIVKWDRDM"
     misc_feature    125..319
                     /gene="B2M"
                     /note="Region: pfam00047, ig, Immunoglobulin domain.
                     Members of the immunoglobulin superfamily are found in
                     hundreds of proteins of different functions. Examples
                     include antibodies, the giant muscle kinase titin and
                     receptor tyrosine kinases. Immunoglobulin-like domains may
                     be involved in protein-protein and protein-ligand
                     interactions. The Pfam alignments do not include the first
                     and last strand of the immunoglobulin-like domain"
     misc_feature    131..343
                     /gene="B2M"
                     /note="Region: smart00407, IGc1, Immunoglobulin C-Type"
     variation       complement(595)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:7151"
     variation       complement(605)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:4780"
     variation       900
                     /gene="B2M"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1054230"
     polyA_signal    908..913
                     /gene="B2M"
BASE COUNT      261 a    168 c    194 g    302 t
ORIGIN      
        1 ggcacgagcc gagatgtctc gctccgtggc cttagctgtg ctcgcgctac tctctctttc
       61 tggcctggag gctatccagc gtactccaaa gattcaggtt tactcacgtc atccagcaga
      121 gaatggaaag tcaaatttcc tgaattgcta tgtgtctggg tttcatccat ccgacattga
      181 agttgactta ctgaagaatg gagagagaat tgaaaaagtg gagcattcag acttgtcttt
      241 cagcaaggac tggtctttct atctcttgta ctacactgaa ttcaccccca ctgaaaaaga
      301 tgagtatgcc tgccgtgtga accatgtgac tttgtcacag cccaagatag ttaagtggga
      361 tcgagacatg taagcagcat catggaggtt tgaagatgcc gcatttggat tggatgaatt
      421 ccaaattctg cttgcttgct ttttaatatt gatatgctta tacacttaca ctttatgcac
      481 aaaatgtagg gttataataa tgttaacatg gacatgatct tctttataat tctactttga
      541 gtgctgtctc catgtttgat gtatctgagc aggttgctcc acaggtagct ctaggagggc
      601 tggcaactta gaggtgggga gcagagaatt ctcttatcca acatcaacat cttggtcaga
      661 tttgaactct tcaatctctt gcactcaaag cttgttaaga tagttaagcg tgcataagtt
      721 aacttccaat ttacatactc tgcttagaat ttgggggaaa atttagaaat ataattgaca
      781 ggattattgg aaatttgtta taatgaatga aacattttgt catataagat tcatatttac
      841 ttcttataca tttgataaag taaggcatgg ttgtggttaa tctggtttat ttttgttcca
      901 caagttaaat aaatcataaa acttg
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&



    
 
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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_003064. Homo sapiens secr...[gi:15834622] Links  


LOCUS       SLPI                     598 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens secretory leukocyte protease inhibitor
            (antileukoproteinase) (SLPI), mRNA.
ACCESSION   NM_003064
VERSION     NM_003064.2  GI:15834622
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 598)
  AUTHORS   Seemuller,U., Arnhold,M., Fritz,H., Wiedenmann,K., Machleidt,W.,
            Heinzel,R., Appelhans,H., Gassen,H.G. and Lottspeich,F.
  TITLE     The acid-stable proteinase inhibitor of human mucous secretions
            (HUSI-I, antileukoprotease). Complete amino acid sequence as
            revealed by protein and cDNA sequencing and structural homology to
            whey proteins and Red Sea turtle proteinase inhibitor
  JOURNAL   FEBS Lett. 199 (1), 43-48 (1986)
  MEDLINE   86164996
   PUBMED   3485543
REFERENCE   2  (bases 1 to 598)
  AUTHORS   Thompson,R.C. and Ohlsson,K.
  TITLE     Isolation, properties, and complete amino acid sequence of human
            secretory leukocyte protease inhibitor, a potent inhibitor of
            leukocyte elastase
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 83 (18), 6692-6696 (1986)
  MEDLINE   86313644
   PUBMED   3462719
REFERENCE   3  (bases 1 to 598)
  AUTHORS   Heinzel,R., Appelhans,H., Gassen,G., Seemuller,U., Machleidt,W.,
            Fritz,H. and Steffens,G.
  TITLE     Molecular cloning and expression of cDNA for human
            antileukoprotease from cervix uterus
  JOURNAL   Eur. J. Biochem. 160 (1), 61-67 (1986)
  MEDLINE   87030258
   PUBMED   3533531
REFERENCE   4  (bases 1 to 598)
  AUTHORS   Stetler,G., Brewer,M.T. and Thompson,R.C.
  TITLE     Isolation and sequence of a human gene encoding a potent inhibitor
            of leukocyte proteases
  JOURNAL   Nucleic Acids Res. 14 (20), 7883-7896 (1986)
  MEDLINE   87040761
   PUBMED   3640338
REFERENCE   5  (bases 1 to 598)
  AUTHORS   Grutter,M.G., Fendrich,G., Huber,R. and Bode,W.
  TITLE     The 2.5 A X-ray crystal structure of the acid-stable proteinase
            inhibitor from human mucous secretions analysed in its complex with
            bovine alpha-chymotrypsin
  JOURNAL   EMBO J. 7 (2), 345-351 (1988)
  MEDLINE   88211544
   PUBMED   3366116
REFERENCE   6  (bases 1 to 598)
  AUTHORS   Fritz,H.
  TITLE     Human mucus proteinase inhibitor (human MPI). Human seminal
            inhibitor I (HUSI-I), antileukoprotease (ALP), secretory leukocyte
            protease inhibitor (SLPI)
  JOURNAL   Biol. Chem. Hoppe-Seyler 369 Suppl, 79-82 (1988)
  MEDLINE   89076538
   PUBMED   3060147
REFERENCE   7  (bases 1 to 598)
  AUTHORS   Eisenberg,S.P., Hale,K.K., Heimdal,P. and Thompson,R.C.
  TITLE     Location of the protease-inhibitory region of secretory leukocyte
            protease inhibitor
  JOURNAL   J. Biol. Chem. 265 (14), 7976-7981 (1990)
  MEDLINE   90243669
   PUBMED   2110563
REFERENCE   8  (bases 1 to 598)
  AUTHORS   Abe,T., Kobayashi,N., Yoshimura,K., Trapnell,B.C., Kim,H.,
            Hubbard,R.C., Brewer,M.T., Thompson,R.C. and Crystal,R.G.
  TITLE     Expression of the secretory leukoprotease inhibitor gene in
            epithelial cells
  JOURNAL   J. Clin. Invest. 87 (6), 2207-2215 (1991)
  MEDLINE   91250579
   PUBMED   1674946
REFERENCE   9  (bases 1 to 598)
  AUTHORS   Kikuchi,T., Abe,T., Hoshi,S., Matsubara,N., Tominaga,Y., Satoh,K.
            and Nukiwa,T.
  TITLE     Structure of the murine secretory leukoprotease inhibitor (Slpi)
            gene and chromosomal localization of the human and murine SLPI
            genes
  JOURNAL   Am. J. Respir. Cell Mol. Biol. 19 (6), 875-880 (1998)
  MEDLINE   99061820
   PUBMED   9843921
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X04470.1 and M74444.1.
            On Oct 2, 2001 this sequence version replaced gi:4507064.
            Summary:  This gene encodes a secreted inhibitor which protects
            epithelial tissues from serine proteases.  It is found in various
            secretions including seminal plasma, cervical mucus, and bronchial
            secretions, and has affinity for trypsin, leukocyte elastase, and
            cathepsin G.  Its inhibitory effect contributes to the immune
            response by protecting epithelial surfaces from attack by
            endogenous proteolytic enzymes; the protein is also thought to have
            broad-spectrum anti-biotic activity.
FEATURES             Location/Qualifiers
     source          1..598
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q12"
     gene            1..598
                     /gene="SLPI"
                     /note="ALP; ALK1; BLPI; HUSI; HUSI-I"
                     /db_xref="LocusID:6590"
                     /db_xref="MIM:107285"
     CDS             23..421
                     /gene="SLPI"
                     /note="antileukoproteinase; seminal proteinase inhibitor;
                     mucus proteinase inhibitor"
                     /codon_start=1
                     /product="secretory leukocyte protease inhibitor
                     precursor"
                     /protein_id="NP_003055.1"
                     /db_xref="GI:4507065"
                     /db_xref="LocusID:6590"
                     /db_xref="MIM:107285"
                     /translation="MKSSGLFPFLVLLALGTLAPWAVEGSGKSFKAGVCPPKKSAQCL
                     RYKKPECQSDWQCPGKKRCCPDTCGIKCLDPVDTPNPTRRKPGKCPVTYGQCLMLNPP
                     NFCEMDGQCKRDLKCCMGMCGKSCVSPVKA"
     sig_peptide     23..97
                     /gene="SLPI"
     mat_peptide     98..418
                     /gene="SLPI"
                     /product="secretory leukocyte protease inhibitor"
     misc_feature    113..250
                     /gene="SLPI"
                     /note="Region: smart00217, WAP, WAP domain"
     misc_feature    113..247
                     /gene="SLPI"
                     /note="Region: pfam00095, wap, WAP-type (Whey Acidic
                     Protein) 'four-disulfide core'"
     misc_feature    275..412
                     /gene="SLPI"
                     /note="Region: smart00217, WAP, WAP domain"
     misc_feature    275..409
                     /gene="SLPI"
                     /note="Region: pfam00095, wap, WAP-type (Whey Acidic
                     Protein) 'four-disulfide core'"
     variation       479
                     /gene="SLPI"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1057432"
     variation       497
                     /gene="SLPI"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1061188"
     variation       500
                     /gene="SLPI"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3171242"
     variation       533
                     /gene="SLPI"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3178901"
     polyA_signal    568..573
                     /gene="SLPI"
     polyA_signal    572..577
                     /gene="SLPI"
     variation       579
                     /gene="SLPI"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:8282"
     polyA_site      598
                     /gene="SLPI"
                     /evidence=experimental
BASE COUNT      134 a    157 c    156 g    151 t
ORIGIN      
        1 cagagtcact cctgccttca ccatgaagtc cagcggcctc ttccccttcc tggtgctgct
       61 tgccctggga actctggcac cttgggctgt ggaaggctct ggaaagtcct tcaaagctgg
      121 agtctgtcct cctaagaaat ctgcccagtg ccttagatac aagaaacctg agtgccagag
      181 tgactggcag tgtccaggga agaagagatg ttgtcctgac acttgtggca tcaaatgcct
      241 ggatcctgtt gacaccccaa acccaacaag gaggaagcct gggaagtgcc cagtgactta
      301 tggccaatgt ttgatgctta acccccccaa tttctgtgag atggatggcc agtgcaagcg
      361 tgacttgaag tgttgcatgg gcatgtgtgg gaaatcctgc gtttcccctg tgaaagcttg
      421 attcctgcca tatggaggag gctctggagt cctgctctgt gtggtccagg tcctttccac
      481 cctgagactt ggctccacca ctgatatcct cctttgggga aaggcttggc acacagcagg
      541 ctttcaagaa gtgccagttg atcaatgaat aaataaacga gcctatttct ctttgcac
//



Revised: July 5, 2002.
 
 


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1: NM_003617. Homo sapiens regu...[gi:4506518] Links  


LOCUS       RGS5                    2076 bp    mRNA    linear   PRI 01-NOV-2000
DEFINITION  Homo sapiens regulator of G-protein signalling 5 (RGS5), mRNA.
ACCESSION   NM_003617
VERSION     NM_003617.1  GI:4506518
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (sites)
  AUTHORS   Seki,N., Sugano,S., Suzuki,Y., Nakagawara,A., Ohira,M.,
            Muramatsu,M., Saito,T. and Hori,T.
  TITLE     Isolation, tissue expression, and chromosomal assignment of human
            RGS5, a novel G-protein signaling regulator gene
  JOURNAL   J. Hum. Genet. 43 (3), 202-205 (1998)
  MEDLINE   98419174
   PUBMED   9747037
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AB008109.1.
FEATURES             Location/Qualifiers
     source          1..2076
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23"
                     /clone="nb-20"
                     /tissue_type="neuroblastoma"
     gene            1..2076
                     /gene="RGS5"
                     /db_xref="LocusID:8490"
                     /db_xref="MIM:603276"
     CDS             82..627
                     /gene="RGS5"
                     /function="G protein signaling regulator"
                     /note="Regulator of G protein signaling-5"
                     /codon_start=1
                     /product="regulator of G-protein signalling 5"
                     /protein_id="NP_003608.1"
                     /db_xref="GI:4506519"
                     /db_xref="LocusID:8490"
                     /db_xref="MIM:603276"
                     /translation="MCKGLAALPHSCLERAKEIKIKLGILLQKPDSVGDLVIPYNEKP
                     EKPAKTQKTSLDEALQWRDSLDKLLQNNYGLASFKSFLKSEFSEENLEFWIACEDYKK
                     IKSPAKMAEKAKQIYEEFIQTEAPKEVNIDHFTKDITMKNLVEPSLSSFDMAQKRIHA
                     LMEKDSLPRFVRSEFYQELIK"
     misc_feature    271..621
                     /gene="RGS5"
                     /note="RGS; Region: Regulator of G protein signaling
                     domain"
                     /db_xref="CDD:pfam00615"
     misc_feature    271..618
                     /gene="RGS5"
                     /note="RGS; Region: Regulator of G protein signalling
                     domain"
                     /db_xref="CDD:RGS"
     variation       881
                     /gene="RGS5"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:15049"
     variation       881
                     /gene="RGS5"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3768561"
     variation       1713
                     /gene="RGS5"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3204096"
     variation       1713
                     /gene="RGS5"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1063073"
BASE COUNT      674 a    399 c    371 g    632 t
ORIGIN      
        1 agacagtttt gaagttttca aagactggct ctgctgttaa gaagttgtac ttaaagcgga
       61 ggagctaagc cacctgccaa aatgtgcaaa ggacttgcag ctttgcccca ctcatgcctg
      121 gaaagggcca aggagattaa gatcaagttg ggaattctcc tccagaagcc agactcagtt
      181 ggtgaccttg tcattccgta caatgagaag ccagagaaac cagccaagac ccagaaaacc
      241 tcgctggacg aggccctgca gtggcgtgat tccctggaca aactcctgca gaacaactat
      301 ggacttgcca gtttcaaaag tttcctgaag tctgaattca gtgaggaaaa ccttgagttc
      361 tggattgcct gtgaggatta caagaagatc aagtcccctg ccaagatggc tgagaaggca
      421 aagcaaattt atgaagaatt cattcaaacg gaggctccta aagaggtgaa tattgaccac
      481 ttcactaagg acatcacaat gaagaacctg gtggaacctt ccctgagcag ctttgacatg
      541 gcccagaaaa gaatccatgc cctgatggaa aaggattctc tgcctcgctt tgtgcgctct
      601 gagttttatc aggagttaat caagtagtaa tttagccagg ctatgaaatc atcctgtgag
      661 ttatttcctc cataataacc ctgcatttcc cattaatcta catatcttcc cacagcagct
      721 ttgctcagtg atacccacat gggaaaaatc ccaggggatg ttgcttactc tttttgccca
      781 cactgctttg gatacttatc tactgtccga aggccttctt tccccactca attcttcctg
      841 ccctgttatt aattaagata tcttcagctt gtagtcagac ccaatcagaa tcacagaaaa
      901 atcctgccta aggcaaagaa atataagaca agactatgat atcaatgaat gtgggttaag
      961 taatagattt ccagctaaat tggtctaaaa aagaatatta agtgtggaca gacctatttc
     1021 aaaggagctt aattgatctc acttgtttta gttctgatcc agggagatca cccctctaat
     1081 tatttctgaa cttggttaat aaaagtttat aagattttta tgaagcagcc actgtatgat
     1141 attttaagca aatatgttat ttaaaatatt gatccttccc ttggaccacc ttcatgttag
     1201 ttgggtatta taaataagag atacaaccat gaatatatta tgtttataca aaatcaatct
     1261 gaacacaatt cataaagatt tctcttttat accttcctca ctggccccct ccacctgccc
     1321 atagtcacca aattctgttt taaatcaatg acctaagatc aacaatgaag tattttataa
     1381 atgtatttat gctgctagac tgtgggtcaa atgtttccat tttcaaatta tttagaattc
     1441 ttatgagttt aaaatttgta aatttctaaa tccaatcatg taaaatgaaa ctgttgctcc
     1501 attggagtag tctcccacct aaatatcaag atggctatat gctaaaaaga gaaaatatgg
     1561 tcaagtctaa aatggctaat tgtcctatga tgctattatc atagactaat gacatttatc
     1621 ttcaaaacac caaattgtct ttagaaaaat taatgtgatt acaggtagag gccttctagg
     1681 tgagacactt ttaaggtaca ctgcattttg cagaaaaaaa aaaaaaaaag taatctttta
     1741 gcaaccccag tattccttca ctatttcgct tcctgcatta gcaaatttta cttacagtca
     1801 aaagtgcaga tttatactcc tgacgtgtct cattcacagc taaataatag gccataggac
     1861 ttttggtagg tttaaacttt taattctgta tttcatgatt ataagtcttg ctagaatttt
     1921 ttctaatctt tagtagattt gattaaataa tgattcacag aatttagtaa cagaatcaaa
     1981 ctaagccatg tatgagggta atcgagatga ggatattaac tcaaaagaaa tagggtgatt
     2041 tttaaaggat taataaaatt ctgaaatgtt aagtag
//



Revised: July 5, 2002.
 
 


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NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_000358. Homo sapiens tran...[gi:4507466] Links  


LOCUS       TGFBI                   2691 bp    mRNA    linear   PRI 05-SEP-2002
DEFINITION  Homo sapiens transforming growth factor, beta-induced, 68kDa
            (TGFBI), mRNA.
ACCESSION   NM_000358
VERSION     NM_000358.1  GI:4507466
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2691)
  AUTHORS   Skonier,J., Neubauer,M., Madisen,L., Bennett,K., Plowman,G.D. and
            Purchio,A.F.
  TITLE     cDNA cloning and sequence analysis of beta ig-h3, a novel gene
            induced in a human adenocarcinoma cell line after treatment with
            transforming growth factor-beta
  JOURNAL   DNA Cell Biol. 11 (7), 511-522 (1992)
  MEDLINE   93000472
   PUBMED   1388724
REFERENCE   2  (bases 1 to 2691)
  AUTHORS   Stone,E.M., Mathers,W.D., Rosenwasser,G.O., Holland,E.J.,
            Folberg,R., Krachmer,J.H., Nichols,B.E., Gorevic,P.D., Taylor,C.M.,
            Streb,L.M. et al.
  TITLE     Three autosomal dominant corneal dystrophies map to chromosome 5q
  JOURNAL   Nat. Genet. 6 (1), 47-51 (1994)
  MEDLINE   94184364
   PUBMED   8136834
REFERENCE   3  (bases 1 to 2691)
  AUTHORS   Skonier,J., Bennett,K., Rothwell,V., Kosowski,S., Plowman,G.,
            Wallace,P., Edelhoff,S., Disteche,C., Neubauer,M., Marquardt,H. et
            al.
  TITLE     beta ig-h3: a transforming growth factor-beta-responsive gene
            encoding a secreted protein that inhibits cell attachment in vitro
            and suppresses the growth of CHO cells in nude mice
  JOURNAL   DNA Cell Biol. 13 (6), 571-584 (1994)
  MEDLINE   94296561
   PUBMED   8024701
REFERENCE   4  (bases 1 to 2691)
  AUTHORS   Munier,F.L., Korvatska,E., Djemai,A., Le Paslier,D., Zografos,L.,
            Pescia,G. and Schorderet,D.F.
  TITLE     Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
  JOURNAL   Nat. Genet. 15 (3), 247-251 (1997)
  MEDLINE   97207642
   PUBMED   9054935
REFERENCE   5  (bases 1 to 2691)
  AUTHORS   Korvatska,E., Munier,F.L., Djemai,A., Wang,M.X., Frueh,B.,
            Chiou,A.G., Uffer,S., Ballestrazzi,E., Braunstein,R.E.,
            Forster,R.K., Culbertson,W.W., Boman,H., Zografos,L. and
            Schorderet,D.F.
  TITLE     Mutation hot spots in 5q31-linked corneal dystrophies
  JOURNAL   Am. J. Hum. Genet. 62 (2), 320-324 (1998)
  MEDLINE   98130534
   PUBMED   9463327
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from M77349.1.
FEATURES             Location/Qualifiers
     source          1..2691
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31"
                     /cell_line="A549"
                     /cell_type="adenocarcinoma"
     gene            1..2691
                     /gene="TGFBI"
                     /note="CSD; CDB1; CSD1; CSD2; CSD3; LCD1; BIGH3; CDGG1"
                     /db_xref="LocusID:7045"
                     /db_xref="MIM:601692"
     CDS             48..2099
                     /gene="TGFBI"
                     /note="putative; corneal dystrophy; kerato-epithelin;
                     transforming growth factor, beta-induced, 68kD"
                     /codon_start=1
                     /product="transforming growth factor, beta-induced, 68kDa"
                     /protein_id="NP_000349.1"
                     /db_xref="GI:4507467"
                     /db_xref="LocusID:7045"
                     /db_xref="MIM:601692"
                     /translation="MALFVRLLALALALALGPAATLAGPAKSPYQLVLQHSRLRGRQH
                     GPNVCAVQKVIGTNRKYFTNCKQWYQRKICGKSTVISYECCPGYEKVPGEKGCPAALP
                     LSNLYETLGVVGSTTTQLYTDRTEKLRPEMEGPGSFTIFAPSNEAWASLPAEVLDSLV
                     SNVNIELLNALRYHMVGRRVLTDELKHGMTLTSMYQNSNIQIHHYPNGIVTVNCARLL
                     KADHHATNGVVHLIDKVISTITNNIQQIIEIEDTFETLRAAVAASGLNTMLEGNGQYT
                     LLAPTNEAFEKIPSETLNRILGDPEALRDLLNNHILKSAMCAEAIVAGLSVETLEGTT
                     LEVGCSGDMLTINGKAIISNKDILATNGVIHYIDELLIPDSAKTLFELAAESDVSTAI
                     DLFRQAGLGNHLSGSERLTLLAPLNSVFKDGTPPIDAHTRNLLRNHIIKDQLASKYLY
                     HGQTLETLGGKKLRVFVYRNSLCIENSCIAAHDKRGRYGTLFTMDRVLTPPMGTVMDV
                     LKGDNRFSMLVAAIQSAGLTETLNREGVYTVFAPTNEAFRALPPRERSRLLGDAKELA
                     NILKYHIGDEILVSGGIGALVRLKSLQGDKLEVSLKNNVVSVNKEPVAEPDIMATNGV
                     VHVITNVLQPPANRPQERGDELADSALEIFKQASAFSRASQRSVRLAPVYQKLLERMK
                     H"
     sig_peptide     48..92
                     /gene="BIGH3"
                     /note="putative"
     mat_peptide     93..2096
                     /gene="BIGH3"
                     /product="transforming growth factor-beta induced protein"
     misc_feature    447..755
                     /gene="TGFBI"
                     /note="Region: pfam02469, Fasciclin, Fasciclin domain.
                     This extracellular domain is found repeated four times in
                     grasshopper fasciclin I as well as in proteins from
                     mammals, sea urchins, plants, yeast and bacteria"
     misc_feature    462..755
                     /gene="TGFBI"
                     /note="Region: smart00554, FAS1, Four repeated domains in
                     the Fasciclin I family of proteins, present in many other
                     contexts"
     misc_feature    801..1166
                     /gene="TGFBI"
                     /note="Region: pfam02469, Fasciclin, Fasciclin domain.
                     This extracellular domain is found repeated four times in
                     grasshopper fasciclin I as well as in proteins from
                     mammals, sea urchins, plants, yeast and bacteria"
     misc_feature    873..1166
                     /gene="TGFBI"
                     /note="Region: smart00554, FAS1, Four repeated domains in
                     the Fasciclin I family of proteins, present in many other
                     contexts"
     misc_feature    1212..1547
                     /gene="TGFBI"
                     /note="Region: pfam02469, Fasciclin, Fasciclin domain.
                     This extracellular domain is found repeated four times in
                     grasshopper fasciclin I as well as in proteins from
                     mammals, sea urchins, plants, yeast and bacteria"
     misc_feature    1278..1550
                     /gene="TGFBI"
                     /note="Region: smart00554, FAS1, Four repeated domains in
                     the Fasciclin I family of proteins, present in many other
                     contexts"
     misc_feature    1551..1949
                     /gene="TGFBI"
                     /note="Region: pfam02469, Fasciclin, Fasciclin domain.
                     This extracellular domain is found repeated four times in
                     grasshopper fasciclin I as well as in proteins from
                     mammals, sea urchins, plants, yeast and bacteria"
     misc_feature    1659..1952
                     /gene="TGFBI"
                     /note="Region: smart00554, FAS1, Four repeated domains in
                     the Fasciclin I family of proteins, present in many other
                     contexts"
     variation       698
                     /gene="TGFBI"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1054118"
     variation       complement(698)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1442"
     variation       1028
                     /gene="TGFBI"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1054124"
     variation       1028
                     /gene="TGFBI"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3173020"
     variation       complement(1028)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3749783"
     variation       1463
                     /gene="TGFBI"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3194691"
     variation       1463
                     /gene="TGFBI"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1133170"
     variation       1667
                     /gene="TGFBI"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3173019"
     variation       1667
                     /gene="TGFBI"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:4669"
     variation       2370
                     /gene="TGFBI"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1804507"
     variation       2557
                     /gene="TGFBI"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:7854"
     variation       2584
                     /gene="TGFBI"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:14813"
     variation       complement(2636)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:4572"
BASE COUNT      679 a    729 c    695 g    588 t
ORIGIN      
        1 gcttgcccgt cggtcgctag ctcgctcggt gcgcgtcgtc ccgctccatg gcgctcttcg
       61 tgcggctgct ggctctcgcc ctggctctgg ccctgggccc cgccgcgacc ctggcgggtc
      121 ccgccaagtc gccctaccag ctggtgctgc agcacagcag gctccggggc cgccagcacg
      181 gccccaacgt gtgtgctgtg cagaaggtta ttggcactaa taggaagtac ttcaccaact
      241 gcaagcagtg gtaccaaagg aaaatctgtg gcaaatcaac agtcatcagc tacgagtgct
      301 gtcctggata tgaaaaggtc cctggggaga agggctgtcc agcagcccta ccactctcaa
      361 acctttacga gaccctggga gtcgttggat ccaccaccac tcagctgtac acggaccgca
      421 cggagaagct gaggcctgag atggaggggc ccggcagctt caccatcttc gcccctagca
      481 acgaggcctg ggcctccttg ccagctgaag tgctggactc cctggtcagc aatgtcaaca
      541 ttgagctgct caatgccctc cgctaccata tggtgggcag gcgagtcctg actgatgagc
      601 tgaaacacgg catgaccctc acctctatgt accagaattc caacatccag atccaccact
      661 atcctaatgg gattgtaact gtgaactgtg cccggctcct gaaagccgac caccatgcaa
      721 ccaacggggt ggtgcacctc atcgataagg tcatctccac catcaccaac aacatccagc
      781 agatcattga gatcgaggac acctttgaga cccttcgggc tgctgtggct gcatcagggc
      841 tcaacacgat gcttgaaggt aacggccagt acacgctttt ggccccgacc aatgaggcct
      901 tcgagaagat ccctagtgag actttgaacc gtatcctggg cgacccagaa gccctgagag
      961 acctgctgaa caaccacatc ttgaagtcag ctatgtgtgc tgaagccatc gttgcggggc
     1021 tgtctgtaga gaccctggag ggcacgacac tggaggtggg ctgcagcggg gacatgctca
     1081 ctatcaacgg gaaggcgatc atctccaata aagacatcct agccaccaac ggggtgatcc
     1141 actacattga tgagctactc atcccagact cagccaagac actatttgaa ttggctgcag
     1201 agtctgatgt gtccacagcc attgaccttt tcagacaagc cggcctcggc aatcatctct
     1261 ctggaagtga gcggttgacc ctcctggctc ccctgaattc tgtattcaaa gatggaaccc
     1321 ctccaattga tgcccataca aggaatttgc ttcggaacca cataattaaa gaccagctgg
     1381 cctctaagta tctgtaccat ggacagaccc tggaaactct gggcggcaaa aaactgagag
     1441 tttttgttta tcgtaatagc ctctgcattg agaacagctg catcgcggcc cacgacaaga
     1501 gggggaggta cgggaccctg ttcacgatgg accgggtgct gaccccccca atggggactg
     1561 tcatggatgt cctgaaggga gacaatcgct ttagcatgct ggtagctgcc atccagtctg
     1621 caggactgac ggagaccctc aaccgggaag gagtctacac agtctttgct cccacaaatg
     1681 aagccttccg agccctgcca ccaagagaac ggagcagact cttgggagat gccaaggaac
     1741 ttgccaacat cctgaaatac cacattggtg atgaaatcct ggttagcgga ggcatcgggg
     1801 ccctggtgcg gctaaagtct ctccaaggtg acaagctgga agtcagcttg aaaaacaatg
     1861 tggtgagtgt caacaaggag cctgttgccg agcctgacat catggccaca aatggcgtgg
     1921 tccatgtcat caccaatgtt ctgcagcctc cagccaacag acctcaggaa agaggggatg
     1981 aacttgcaga ctctgcgctt gagatcttca aacaagcatc agcgttttcc agggcttccc
     2041 agaggtctgt gcgactagcc cctgtctatc aaaagttatt agagaggatg aagcattagc
     2101 ttgaagcact acaggaggaa tgcaccacgg cagctctccg ccaatttctc tcagatttcc
     2161 acagagactg tttgaatgtt ttcaaaacca agtatcacac tttaatgtac atgggccgca
     2221 ccataatgag atgtgagcct tgtgcatgtg ggggaggagg gagagagatg tactttttaa
     2281 atcatgttcc ccctaaacat ggctgttaac ccactgcatg cagaaacttg gatgtcactg
     2341 cctgacattc acttccagag aggacctatc ccaaatgtgg aattgactgc ctatgccaag
     2401 tccctggaaa aggagcttca gtattgtggg gctcataaaa catgaatcaa gcaatccagc
     2461 ctcatgggaa gtcctggcac agtttttgta aagcccttgc acagctggag aaatggcatc
     2521 attataagct atgagttgaa atgttctgtc aaatgtgtct cacatctaca cgtggcttgg
     2581 aggcttttat ggggccctgt ccaggtagaa aagaaatggt atgtagagct tagatttccc
     2641 tattgtgaca gagccatggt gtgtttgtaa taataaaacc aaagaaacat a
//



Revised: July 5, 2002.
 
 


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1: NM_002122. Homo sapiens majo...[gi:18426974] Links  


LOCUS       HLA-DQA1                1096 bp    mRNA    linear   PRI 30-JAN-2002
DEFINITION  Homo sapiens major histocompatibility complex, class II, DQ alpha 1
            (HLA-DQA1), mRNA.
ACCESSION   NM_002122
VERSION     NM_002122.2  GI:18426974
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1096)
  AUTHORS   Schenning,L., Larhammar,D., Bill,P., Wiman,K., Jonsson,A.K.,
            Rask,L. and Peterson,P.A.
  TITLE     Both alpha and beta chains of HLA-DC class II histocompatibility
            antigens display extensive polymorphism in their amino-terminal
            domains
  JOURNAL   EMBO J. 3 (2), 447-452 (1984)
  MEDLINE   84182509
   PUBMED   6585297
REFERENCE   2  (bases 1 to 1096)
  AUTHORS   Turco,E., Care,A., Compagnone-Post,P., Robinson,C., Cascino,I. and
            Trucco,M.
  TITLE     Allelic forms of the alpha- and beta-chain genes encoding
            DQw1-positive heterodimers
  JOURNAL   Immunogenetics 26 (4-5), 282-290 (1987)
  MEDLINE   88006310
   PUBMED   2888727
REFERENCE   3  (bases 1 to 1096)
  AUTHORS   Jonsson,A.K., Andersson,L. and Rask,L.
  TITLE     Complete sequences of DQA1 and DQB1 cDNA clones corresponding to
            the DQw4 specificity
  JOURNAL   Immunogenetics 30 (3), 232-234 (1989)
  MEDLINE   89379293
   PUBMED   2777341
REFERENCE   4  (bases 1 to 1096)
  AUTHORS   Todd,J.A., Fukui,Y., Kitagawa,T. and Sasazuki,T.
  TITLE     The A3 allele of the HLA-DQA1 locus is associated with
            susceptibility to type 1 diabetes in Japanese
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 87 (3), 1094-1098 (1990)
  MEDLINE   90138944
   PUBMED   2300572
REFERENCE   5  (bases 1 to 1096)
  AUTHORS   Yasunaga,S., Kimura,A., Hamaguchi,K., Ronningen,K.S. and
            Sasazuki,T.
  TITLE     Different contribution of HLA-DR and -DQ genes in susceptibility
            and resistance to insulin-dependent diabetes mellitus (IDDM)
  JOURNAL   Tissue Antigens 47 (1), 37-48 (1996)
  MEDLINE   97083137
   PUBMED   8929711
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from L34083.1, L46875.1 and
            M20431.1.
            On Jan 30, 2002 this sequence version replaced gi:4504406.
            Summary: HLA-DQA1 belongs to the HLA class II alpha chain
            paralogues. The class II molecule is a heterodimer consisting of an
            alpha (DQA) and a beta chain (DQB), both anchored in the membrane.
            It plays a central role in the immune system by presenting peptides
            derived from extracellular proteins. Class II molecules are
            expressed in antigen presenting cells (APC: B Lymphocytes,
            dendritic cells, macrophages). The alpha chain is approximately
            33-35 kDa. It is encoded by 5 exons, exon one encodes the leader
            peptide, exons 2 and 3 encode the two extracellular domains, exon 4
            encodes the transmembrane domain and the cytoplasmic tail. Within
            the DQ molecule both the alpha chain and the beta chain contain the
            polymorphisms specifying the peptide binding specificities,
            resulting in up to 4 different molecules. Typing for these
            polymorphisms is routinely done for bone marrow transplantation.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1096
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.3"
     gene            1..1096
                     /gene="HLA-DQA1"
                     /note="HLA-DQA; DQA1"
                     /allele="DQA1*01021"
                     /db_xref="LocusID:3117"
                     /db_xref="MIM:146880"
     CDS             1..768
                     /gene="HLA-DQA1"
                     /codon_start=1
                     /product="major histocompatibility complex, class II, DQ
                     alpha 1 precursor"
                     /protein_id="NP_002113.2"
                     /db_xref="GI:18426975"
                     /db_xref="LocusID:3117"
                     /db_xref="MIM:146880"
                     /db_xref="LocusID:3117"
                     /db_xref="MIM:146880"
                     /translation="MILNKALLLGALALTTVMSPCGGEDIVADHVASCGVNLYQFYGP
                     SGQYTHEFDGDEQFYVDLERKETAWRWPEFSKFGGFDPQGALRNMAVAKHNLNIMIKR
                     YNSTAATNEVPEVTVFSKSPVTLGQPNTLICLVDNIFPPVVNITWLSNGQSVTEGVSE
                     TSFLSKSDHSFFKISYLTFLPSADEIYDCKVEHWGLDQPLLKHWEPEIPAPMSELTET
                     VVCALGLSVGLMGIVVGTVFIIQGLRSVGASRHQGPL"
     sig_peptide     1..69
                     /gene="HLA-DQA1"
     mat_peptide     70..765
                     /gene="HLA-DQA1"
                     /product="major histocompatibility complex, class II, DQ
                     alpha 1"
     misc_feature    85..330
                     /gene="HLA-DQA1"
                     /note="MHC_II_alpha; Region: Class II histocompatibility
                     antigen, alpha domain"
                     /db_xref="CDD:pfam00993"
     misc_feature    376..573
                     /gene="HLA-DQA1"
                     /note="ig; Region: Immunoglobulin domain"
                     /db_xref="CDD:pfam00047"
     misc_feature    382..597
                     /gene="HLA-DQA1"
                     /note="IGc1; Region: Immunoglobulin C-Type"
                     /db_xref="CDD:smart00407"
     variation       31
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1047992"
     variation       36
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1047993"
     variation       39
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3188497"
     variation       39
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1130034"
     variation       45
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1129732"
     variation       46
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1129734"
     variation       60
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1129735"
     variation       60
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3187973"
     variation       90
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1129737"
     variation       90
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3187977"
     variation       93
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3187978"
     variation       93
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1129738"
     variation       101
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1129740"
     variation       101
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3187980"
     variation       102
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3205916"
     variation       108
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1129742"
     variation       114
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1129744"
     variation       122
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1071630"
     variation       122
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3187990"
     variation       124
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1129749"
     variation       126
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3208179"
     variation       126
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1129753"
     variation       126
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3187995"
     variation       138
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2308836"
     variation       165
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3188013"
     variation       165
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1142322"
     variation       169
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1130036"
     variation       188
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1142323"
     variation       203
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1142324"
     variation       208
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1142326"
     variation       210
                     /gene="HLA-DQA1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3208103"
     variation       212
                     /gene="HLA-DQA1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1142328"
     variation       218
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3208105"
     variation       232
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1142330"
     variation       250
                     /gene="HLA-DQA1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1142331"
     variation       251
                     /gene="HLA-DQA1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1142332"
     variation       260
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1142333"
     variation       267
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1142334"
     variation       274
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1142335"
     variation       295
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1142336"
     variation       295
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3205995"
     variation       308
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3188091"
     variation       308
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1142337"
     variation       308
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3205997"
     variation       318
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3205998"
     variation       318
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1142338"
     variation       324
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1129812"
     variation       362
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1048122"
     variation       366
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1048124"
     variation       372
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3205999"
     variation       372
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1048134"
     variation       372
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2308878"
     variation       389
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:707952"
     variation       396
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:707951"
     variation       438
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1048173"
     variation       456
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:707950"
     variation       457
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:2308883"
     variation       535
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:707949"
     variation       547
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:2308885"
     variation       548
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3188280"
     variation       548
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:7990"
     variation       548
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:2308886"
     variation       552
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:707963"
     variation       552
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:2308887"
     variation       557
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:707962"
     variation       557
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:2308888"
     variation       585
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:2308889"
     variation       591
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1129956"
     variation       591
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3188331"
     variation       591
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2308890"
     variation       592
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1129957"
     variation       592
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3188332"
     variation       592
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2308891"
     variation       628
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3188344"
     variation       628
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1129963"
     variation       630
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3188543"
     variation       663
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3188385"
     variation       663
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1048372"
     variation       672
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1048381"
     variation       688
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2308897"
     variation       688
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3188604"
     variation       688
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:9260"
     variation       705
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1048414"
     variation       705
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3188424"
     variation       708
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1048419"
     variation       708
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2308899"
     variation       708
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3188429"
     variation       714
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3188618"
     variation       714
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1048430"
     variation       722
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1048439"
     variation       756
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3188636"
     variation       756
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:13379"
     variation       762
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1130116"
     variation       780
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3188642"
     variation       783
                     /gene="HLA-DQA1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1130117"
     variation       783
                     /gene="HLA-DQA1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3188643"
     variation       809
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1130120"
     variation       829
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3188666"
     variation       841
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1048643"
     variation       846
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1048645"
     variation       855
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1130126"
     variation       885
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1130136"
     variation       901
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1130139"
     variation       906
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1130142"
     variation       917
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1130144"
     variation       918
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1130145"
     variation       928
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1130148"
     variation       929
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1142414"
     variation       947
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1142419"
     variation       957
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1142422"
     variation       968
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1142429"
     variation       992
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1138372"
     variation       995
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1130151"
     variation       1010
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1130155"
     variation       1011
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1138373"
     variation       1019
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1142447"
     variation       1027
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1130156"
     variation       1031
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1130158"
     variation       1035
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1130160"
     variation       1053
                     /gene="HLA-DQA1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1130161"
     variation       1056
                     /gene="HLA-DQA1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1130162"
     variation       1062
                     /gene="HLA-DQA1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1065033"
     polyA_signal    1078..1083
                     /gene="HLA-DQA1"
     polyA_site      1096
                     /gene="HLA-DQA1"
BASE COUNT      248 a    296 c    249 g    303 t
ORIGIN      
        1 atgatcctaa acaaagctct gctgctgggg gccctcgctc tgaccaccgt gatgagcccc
       61 tgtggaggtg aagacattgt ggctgaccac gttgcctctt gtggtgtaaa cttgtaccag
      121 ttttacggtc cctctggcca gtacacccat gaatttgatg gagatgagca gttctacgtg
      181 gacctggaga ggaaggagac tgcctggcgg tggcctgagt tcagcaaatt tggaggtttt
      241 gacccgcagg gtgcactgag aaacatggct gtggcaaaac acaacttgaa catcatgatt
      301 aaacgctaca actctaccgc tgctaccaat gaggttcctg aggtcacagt gttttccaag
      361 tctcccgtga cactgggtca gcccaacacc ctcatttgtc ttgtggacaa catctttcct
      421 cctgtggtca acatcacatg gctgagcaat gggcagtcag tcacagaagg tgtttctgag
      481 accagcttcc tctccaagag tgatcattcc ttcttcaaga tcagttacct caccttcctc
      541 ccttctgctg atgagattta tgactgcaag gtggagcact ggggcctgga ccagcctctt
      601 ctgaaacact gggagcctga gattccagcc cctatgtcag agctcacaga gactgtggtc
      661 tgtgccctgg ggttgtctgt gggcctcatg ggcattgtgg tgggcactgt cttcatcatc
      721 caaggcctgc gttcagttgg tgcttccaga caccaagggc cattgtgaat cccatcctgg
      781 aagggaaggt gcatcgccat ctacaggagc agaagaatgg acttgctaaa tgacctagca
      841 ctattctctg gcccgattta tcatatccct tttctcctcc aaatatttct cctctcacct
      901 tttctctggg acttaagctg ctatatcccc tcagagctca caaatgcctt tacattcttt
      961 ccctgacctc ctgatttttt ttttcttttc tcaaatgtta cctacaatac atgcctgggg
     1021 taagccaccc ggctacctaa ttcctcagta acctccatct aaaatctcca aggaagcaat
     1081 aaattccttt tatgag
//



Revised: July 5, 2002.
 
 


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1: NM_001904. Homo sapiens cate...[gi:4503130] Links  


LOCUS       CTNNB1                  3362 bp    mRNA    linear   PRI 25-SEP-2002
DEFINITION  Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa
            (CTNNB1), mRNA.
ACCESSION   NM_001904
VERSION     NM_001904.1  GI:4503130
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3362)
  AUTHORS   Kraus,C., Liehr,T., Hulsken,J., Behrens,J., Birchmeier,W.,
            Grzeschik,K.H. and Ballhausen,W.G.
  TITLE     Localization of the human beta-catenin gene (CTNNB1) to 3p21: a
            region implicated in tumor development
  JOURNAL   Genomics 23 (1), 272-274 (1994)
  MEDLINE   95130097
   PUBMED   7829088
REFERENCE   2  (bases 1 to 3362)
  AUTHORS   Hulsken,J., Birchmeier,W. and Behrens,J.
  TITLE     E-cadherin and APC compete for the interaction with beta-catenin
            and the cytoskeleton
  JOURNAL   J. Cell Biol. 127 (6 Pt 2), 2061-2069 (1994)
  MEDLINE   95105247
   PUBMED   7806582
REFERENCE   3  (bases 1 to 3362)
  AUTHORS   Nollet,F., Berx,G., Molemans,F. and van Roy,F.
  TITLE     Genomic organization of the human beta-catenin gene (CTNNB1)
  JOURNAL   Genomics 32 (3), 413-424 (1996)
  MEDLINE   96435919
   PUBMED   8838805
REFERENCE   4  (bases 1 to 3362)
  AUTHORS   Korinek,V., Barker,N., Morin,P.J., van Wichen,D., de Weger,R.,
            Kinzler,K.W., Vogelstein,B. and Clevers,H.
  TITLE     Constitutive transcriptional activation by a beta-catenin-Tcf
            complex in APC-/- colon carcinoma
  JOURNAL   Science 275 (5307), 1784-1787 (1997)
  MEDLINE   97218301
   PUBMED   9065401
REFERENCE   5  (bases 1 to 3362)
  AUTHORS   Morin,P.J., Sparks,A.B., Korinek,V., Barker,N., Clevers,H.,
            Vogelstein,B. and Kinzler,K.W.
  TITLE     Activation of beta-catenin-Tcf signaling in colon cancer by
            mutations in beta-catenin or APC
  JOURNAL   Science 275 (5307), 1787-1790 (1997)
  MEDLINE   97218302
   PUBMED   9065402
REFERENCE   6  (bases 1 to 3362)
  AUTHORS   Chan,E.F., Gat,U., McNiff,J.M. and Fuchs,E.
  TITLE     A common human skin tumour is caused by activating mutations in
            beta-catenin
  JOURNAL   Nat. Genet. 21 (4), 410-413 (1999)
  MEDLINE   99206611
   PUBMED   10192393
REFERENCE   7  (bases 1 to 3362)
  AUTHORS   Kolligs,F.T., Kolligs,B., Hajra,K.M., Hu,G., Tani,M., Cho,K.R. and
            Fearon,E.R.
  TITLE     gamma-catenin is regulated by the APC tumor suppressor and its
            oncogenic activity is distinct from that of beta-catenin
  JOURNAL   Genes Dev. 14 (11), 1319-1331 (2000)
  MEDLINE   20296720
   PUBMED   10837025
REFERENCE   8  (bases 1 to 3362)
  AUTHORS   Ilan,N., Cheung,L., Pinter,E. and Madri,J.A.
  TITLE     Platelet-endothelial cell adhesion molecule-1 (CD31), a scaffolding
            molecule for selected catenin family members whose binding is
            mediated by different tyrosine and serine/threonine phosphorylation
  JOURNAL   J. Biol. Chem. 275 (28), 21435-21443 (2000)
  MEDLINE   20347262
   PUBMED   10801826
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from X87838.1.
FEATURES             Location/Qualifiers
     source          1..3362
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21"
                     /cell_line="5637"
     gene            1..3362
                     /gene="CTNNB1"
                     /note="CTNNB"
                     /db_xref="LocusID:1499"
                     /db_xref="MIM:116806"
     CDS             215..2560
                     /gene="CTNNB1"
                     /note="catenin (cadherin-associated protein), beta 1
                     (88kD); catenin (cadherin-associated protein), beta 1
                     (88kDa"
                     /codon_start=1
                     /product="catenin (cadherin-associated protein), beta 1,
                     88kDa"
                     /protein_id="NP_001895.1"
                     /db_xref="GI:4503131"
                     /db_xref="LocusID:1499"
                     /db_xref="MIM:116806"
                     /translation="MATQADLMELDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAP
                     SLSGKGNPEEEDVDTSQVLYEWEQGFSQSFTQEQVADIDGQYAMTRAQRVRAAMFPET
                     LDEGMQIPSTQFDAAHPTNVQRLAEPSQMLKHAVVNLINYQDDAELATRAIPELTKLL
                     NDEDQVVVNKAAVMVHQLSKKEASRHAIMRSPQMVSAIVRTMQNTNDVETARCTAGTL
                     HNLSHHREGLLAIFKSGGIPALVKMLGSPVDSVLFYAITTLHNLLLHQEGAKMAVRLA
                     GGLQKMVALLNKTNVKFLAITTDCLQILAYGNQESKLIILASGGPQALVNIMRTYTYE
                     KLLWTTSRVLKVLSVCSSNKPAIVEAGGMQALGLHLTDPSQRLVQNCLWTLRNLSDAA
                     TKQEGMEGLLGTLVQLLGSDDINVVTCAAGILSNLTCNNYKNKMMVCQVGGIEALVRT
                     VLRAGDREDITEPAICALRHLTSRHQEAEMAQNAVRLHYGLPVVVKLLHPPSHWPLIK
                     ATVGLIRNLALCPANHAPLREQGAIPRLVQLLVRAHQDTQRRTSMGGTQQQFVEGVRM
                     EEIVEGCTGALHILARDVHNRIVIRGLNTIPLFVQLLYSPIENIQRVAAGVLCELAQD
                     KEAAEAIEAEGATAPLTELLHSRNEGVATYAAAVLFRMSEDKPQDYKKRLSVELTSSL
                     FRTEPMAWNETADLGLDIGAQGEPLGYRQDDPSYRSFHSGGYGQDALGMDPMMEHEMG
                     GHHPGADYPVDGLPDLGHAQDLMDGLPPGDSNQLAWFDTDL"
     misc_feature    902..1000
                     /gene="CTNNB1"
                     /note="Armadillo_seg; Region: Armadillo/beta-catenin-like
                     repeat. Approx. 40 amino acid repeat. Tandem repeats form
                     super-helix of helices that is proposed to mediate
                     interaction of beta-catenin with its ligands. CAUTION:
                     This family does not contain all known armadillo repeats"
                     /db_xref="CDD:pfam00514"
     misc_feature    902..1000
                     /gene="CTNNB1"
                     /note="ARM; Region: Armadillo/beta-catenin-like repeats"
                     /db_xref="CDD:smart00185"
     misc_feature    1262..1384
                     /gene="CTNNB1"
                     /note="Armadillo_seg; Region: Armadillo/beta-catenin-like
                     repeat. Approx. 40 amino acid repeat. Tandem repeats form
                     super-helix of helices that is proposed to mediate
                     interaction of beta-catenin with its ligands. CAUTION:
                     This family does not contain all known armadillo repeats"
                     /db_xref="CDD:pfam00514"
     misc_feature    1262..1384
                     /gene="CTNNB1"
                     /note="ARM; Region: Armadillo/beta-catenin-like repeats"
                     /db_xref="CDD:smart00185"
     misc_feature    1961..2083
                     /gene="CTNNB1"
                     /note="ARM; Region: Armadillo/beta-catenin-like repeats"
                     /db_xref="CDD:smart00185"
     misc_feature    1961..2080
                     /gene="CTNNB1"
                     /note="Armadillo_seg; Region: Armadillo/beta-catenin-like
                     repeat. Approx. 40 amino acid repeat. Tandem repeats form
                     super-helix of helices that is proposed to mediate
                     interaction of beta-catenin with its ligands. CAUTION:
                     This family does not contain all known armadillo repeats"
                     /db_xref="CDD:pfam00514"
     variation       2197
                     /gene="CTNNB1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1800663"
     misc_feature    2573..2731
                     /gene="CTNNB1"
                     /note="alternatively spliced fragment"
     variation       2810
                     /gene="CTNNB1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:2953"
     variation       3026..3029
                     /gene="CTNNB1"
                     /allele="-"
                     /allele="TAAT"
                     /db_xref="dbSNP:16339"
     variation       3031..3033
                     /gene="CTNNB1"
                     /allele="-"
                     /allele="TAAT"
                     /db_xref="dbSNP:3834205"
     variation       3159
                     /gene="CTNNB1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1722851"
     variation       3224
                     /gene="CTNNB1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1058355"
BASE COUNT      880 a    707 c    822 g    953 t
ORIGIN      
        1 aagcctctcg gtctgtggca gcagcgttgg cccggccccg ggagcggaga gcgaggggag
       61 gcggagacgg aggaaggtct gaggagcagc ttcagtcccc gccgagccgc caccgcaggt
      121 cgaggacggt cggactcccg cggcgggagg agcctgttcc cctgagggta tttgaagtat
      181 accatacaac tgttttgaaa atccagcgtg gacaatggct actcaagctg atttgatgga
      241 gttggacatg gccatggaac cagacagaaa agcggctgtt agtcactggc agcaacagtc
      301 ttacctggac tctggaatcc attctggtgc cactaccaca gctccttctc tgagtggtaa
      361 aggcaatcct gaggaagagg atgtggatac ctcccaagtc ctgtatgagt gggaacaggg
      421 attttctcag tccttcactc aagaacaagt agctgatatt gatggacagt atgcaatgac
      481 tcgagctcag agggtacgag ctgctatgtt ccctgagaca ttagatgagg gcatgcagat
      541 cccatctaca cagtttgatg ctgctcatcc cactaatgtc cagcgtttgg ctgaaccatc
      601 acagatgctg aaacatgcag ttgtaaactt gattaactat caagatgatg cagaacttgc
      661 cacacgtgca atccctgaac tgacaaaact gctaaatgac gaggaccagg tggtggttaa
      721 taaggctgca gttatggtcc atcagctttc taaaaaggaa gcttccagac acgctatcat
      781 gcgttctcct cagatggtgt ctgctattgt acgtaccatg cagaatacaa atgatgtaga
      841 aacagctcgt tgtaccgctg ggaccttgca taacctttcc catcatcgtg agggcttact
      901 ggccatcttt aagtctggag gcattcctgc cctggtgaaa atgcttggtt caccagtgga
      961 ttctgtgttg ttttatgcca ttacaactct ccacaacctt ttattacatc aagaaggagc
     1021 taaaatggca gtgcgtttag ctggtgggct gcagaaaatg gttgccttgc tcaacaaaac
     1081 aaatgttaaa ttcttggcta ttacgacaga ctgccttcaa attttagctt atggcaacca
     1141 agaaagcaag ctcatcatac tggctagtgg tggaccccaa gctttagtaa atataatgag
     1201 gacctatact tacgaaaaac tactgtggac cacaagcaga gtgctgaagg tgctatctgt
     1261 ctgctctagt aataagccgg ctattgtaga agctggtgga atgcaagctt taggacttca
     1321 cctgacagat ccaagtcaac gtcttgttca gaactgtctt tggactctca ggaatctttc
     1381 agatgctgca actaaacagg aagggatgga aggtctcctt gggactcttg ttcagcttct
     1441 gggttcagat gatataaatg tggtcacctg tgcagctgga attctttcta acctcacttg
     1501 caataattat aagaacaaga tgatggtctg ccaagtgggt ggtatagagg ctcttgtgcg
     1561 tactgtcctt cgggctggtg acagggaaga catcactgag cctgccatct gtgctcttcg
     1621 tcatctgacc agccgacacc aagaagcaga gatggcccag aatgcagttc gccttcacta
     1681 tggactacca gttgtggtta agctcttaca cccaccatcc cactggcctc tgataaaggc
     1741 tactgttgga ttgattcgaa atcttgccct ttgtcccgca aatcatgcac ctttgcgtga
     1801 gcagggtgcc attccacgac tagttcagtt gcttgttcgt gcacatcagg atacccagcg
     1861 ccgtacgtcc atgggtggga cacagcagca atttgtggag ggggtccgca tggaagaaat
     1921 agttgaaggt tgtaccggag cccttcacat cctagctcgg gatgttcaca accgaattgt
     1981 tatcagagga ctaaatacca ttccattgtt tgtgcagctg ctttattctc ccattgaaaa
     2041 catccaaaga gtagctgcag gggtcctctg tgaacttgct caggacaagg aagctgcaga
     2101 agctattgaa gctgagggag ccacagctcc tctgacagag ttacttcact ctaggaatga
     2161 aggtgtggcg acatatgcag ctgctgtttt gttccgaatg tctgaggaca agccacaaga
     2221 ttacaagaaa cggctttcag ttgagctgac cagctctctc ttcagaacag agccaatggc
     2281 ttggaatgag actgctgatc ttggacttga tattggtgcc cagggagaac cccttggata
     2341 tcgccaggat gatcctagct atcgttcttt tcactctggt ggatatggcc aggatgcctt
     2401 gggtatggac cccatgatgg aacatgagat gggtggccac caccctggtg ctgactatcc
     2461 agttgatggg ctgccagatc tggggcatgc ccaggacctc atggatgggc tgcctccagg
     2521 tgacagcaat cagctggcct ggtttgatac tgacctgtaa atcatccttt agctgtattg
     2581 tctgaacttg cattgtgatt ggcctgtaga gttgctgaga gggctcgagg ggtgggctgg
     2641 tatctcagaa agtgcctgac acactaacca agctgagttt cctatgggaa caattgaagt
     2701 aaactttttg ttctggtcct ttttggtcga ggagtaacaa tacaaatgga ttttgggagt
     2761 gactcaagaa gtgaagaatg cacaagaatg gatcacaaga tggaatttag caaaccctag
     2821 ccttgcttgt taaaattttt tttttttttt ttttaagaat atctgtaatg gtactgactt
     2881 tgcttgcttt gaagtagctc tttttttttt tttttttttt tttttttgca gtaactgttt
     2941 tttaagtctc tcgtagtgtt aagttatagt gaatactgct acagcaattt ctaattttta
     3001 agaattgagt aatggtgtag aacactaatt aattcataat cactctaatt aattgtaatc
     3061 tgaataaagt gtaacaattg tgtagccttt ttgtataaaa tagacaaata gaaaatggtc
     3121 caattagttt cctttttaat atgcttaaaa taagcaggtg gatctatttc atgtttttga
     3181 tcaaaaacta tttgggatat gtatgggtag ggtaaatcag taagaggtgt tatttggaac
     3241 cttgttttgg acagtttacc agttgccttt tatcccaaag ttgttgtaac ctgctgtgat
     3301 acgatgcttc aagagaaaat gcggttataa aaaatggttc agaattaaac ttttaattca
     3361 tt
//



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1: NM_017503. Homo sapiens surf...[gi:19557686] Links  


LOCUS       SURF2                    847 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens surfeit 2 (SURF2), mRNA.
ACCESSION   NM_017503
VERSION     NM_017503.2  GI:19557686
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 847)
  AUTHORS   Yon,J., Jones,T., Garson,K., Sheer,D. and Fried,M.
  TITLE     The organization and conservation of the human Surfeit gene cluster
            and its localization telomeric to the c-abl and can proto-oncogenes
            at chromosome band 9q34.1
  JOURNAL   Hum. Mol. Genet. 2 (3), 237-240 (1993)
  MEDLINE   93271979
   PUBMED   8499913
REFERENCE   2  (bases 1 to 847)
  AUTHORS   Lennard,A., Gaston,K. and Fried,M.
  TITLE     The Surf-1 and Surf-2 genes and their essential bidirectional
            promoter elements are conserved between mouse and human
  JOURNAL   DNA Cell Biol. 13 (11), 1117-1126 (1994)
  MEDLINE   95217332
   PUBMED   7702754
REFERENCE   3  (bases 1 to 847)
  AUTHORS   Duhig,T., Ruhrberg,C., Mor,O. and Fried,M.
  TITLE     The human Surfeit locus
  JOURNAL   Genomics 52 (1), 72-78 (1998)
  MEDLINE   98414511
   PUBMED   9740673
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC014411.1 and BM789997.1.
            On Mar 20, 2002 this sequence version replaced gi:8924249.
            Summary: This gene is located in the surfeit gene cluster, a group
            of very tightly linked genes that do not share sequence similarity.
            The gene shares a bidirectional promoter with SURF1, which is
            located on the opposite strand. The function of the encoded protein
            from this housekeeping gene has not yet been determined.
FEATURES             Location/Qualifiers
     source          1..847
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.2"
                     /clone="MGC:19914 IMAGE:4548425"
                     /clone_lib="NIH_MGC_18"
     gene            1..847
                     /gene="SURF2"
                     /note="SURF-2"
                     /db_xref="LocusID:6835"
                     /db_xref="MIM:185630"
     CDS             42..812
                     /gene="SURF2"
                     /note="surfeit locus protein 2"
                     /codon_start=1
                     /product="surfeit 2"
                     /protein_id="NP_059973.2"
                     /db_xref="GI:19557687"
                     /db_xref="LocusID:6835"
                     /db_xref="MIM:185630"
                     /translation="MSELPGDVRAFLREHPSLRLQTDARKVRCILTGHELPCRLPELQ
                     VYTRGKKYQRLVRASPAFDYAEFEPHIVPSTKNPHQLFCKLTLRHINKCPEHVLRHTQ
                     GRRYQRALCKYEECQKQGVEYVPACLVHRRRRREDQMDGDGPRPREAFWEPTSSDEGG
                     AASDDSMTDLYPPELFTRKDLGSTEDGDGTDDFLTDKEDEKAKPPREKATDEGRRETT
                     VYRGLVQKRGKKQLGSLKKKFKSHHRKPKSFSSCKQPG"
     variation       669
                     /gene="SURF2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1057411"
     variation       678
                     /gene="SURF2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:12763"
     variation       678
                     /gene="SURF2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1057414"
     polyA_signal    811..816
                     /gene="SURF2"
     polyA_site      829
                     /gene="SURF2"
                     /evidence=experimental
BASE COUNT      218 a    236 c    272 g    121 t
ORIGIN      
        1 gcgagcggct tccgccgggc tgctccgcgg gcgcgtcggc catgagcgag ttgccgggcg
       61 acgtgcgggc gtttctgcgg gagcacccga gcctgcggct ccagacggac gcccgcaagg
      121 tgaggtgcat cctgacaggt cacgagctgc cctgccgcct gccggagctc caggtctaca
      181 cccgcggcaa aaagtaccag cggctggtcc gcgcctcccc ggccttcgac tatgcagagt
      241 tcgagccgca catcgtgccc agcaccaaga acccgcacca gttgttctgc aaactcaccc
      301 tgcggcacat caacaagtgc ccagaacacg tgctgaggca cacccagggc cggcggtacc
      361 agcgagctct gtgtaaatat gaagaatgtc agaagcaagg ggtggagtac gtgcctgcct
      421 gcctggtgca ccggaggagg aggagggagg accagatgga cggtgacggg cctcgcccgc
      481 gggaagcctt ctgggagccc acatccagtg atgagggggg agctgcaagt gatgacagca
      541 tgacagacct gtacccacct gagctattca ccagaaagga ccttggaagc acggaggatg
      601 gggatggcac tgatgacttt ttgacagaca aagaggatga gaaggcaaag cccccaagag
      661 agaaggccac tgatgagggc aggagagaga cgaccgtgta ccgagggctg gtccagaagc
      721 gcgggaagaa gcagttgggc tcgttgaaaa agaagttcaa gagtcatcac cgcaaaccca
      781 agagcttcag ctcctgtaaa cagccaggtt aataaaagca catgccgtga aaaaaaaaaa
      841 aaaaaaa
//



Revised: July 5, 2002.
 
 


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Table 1 MRNA (part 2)  




    
 
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1: NM_004613. Homo sapiens tran...[gi:4759227] Links  


LOCUS       TGM2                    3257 bp    mRNA    linear   PRI 01-NOV-2000
DEFINITION  Homo sapiens transglutaminase 2 (C polypeptide,
            protein-glutamine-gamma-glutamyltransferase) (TGM2), mRNA.
ACCESSION   NM_004613
VERSION     NM_004613.1  GI:4759227
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3257)
  AUTHORS   Gentile,V., Saydak,M., Chiocca,E.A., Akande,O., Birckbichler,P.J.,
            Lee,K.N., Stein,J.P. and Davies,P.J.
  TITLE     Isolation and characterization of cDNA clones to mouse macrophage
            and human endothelial cell tissue transglutaminases
  JOURNAL   J. Biol. Chem. 266 (1), 478-483 (1991)
  MEDLINE   91093168
   PUBMED   1670766
REFERENCE   2  (bases 1 to 3257)
  AUTHORS   Gentile V, Davies PJ and Baldini A.
  TITLE     The human tissue transglutaminase gene maps on chromosome 20q12 by
            in situ fluorescence hybridization
  JOURNAL   Genomics 20 (2), 295-297 (1994)
  MEDLINE   94292215
   PUBMED   7912692
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from M55153.1.
FEATURES             Location/Qualifiers
     source          1..3257
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q12"
                     /clone="1"
                     /cell_type="endothelial cell"
                     /tissue_type="umbilical vein"
                     /tissue_lib="lambda-ZAP"
     gene            1..3257
                     /gene="TGM2"
                     /db_xref="LocusID:7052"
                     /db_xref="MIM:190196"
     CDS             136..2199
                     /gene="TGM2"
                     /EC_number="2.3.2.13"
                     /codon_start=1
                     /product="transglutaminase 2 (C polypeptide,
                     protein-glutamine-gamma-glutamyltransferase)"
                     /protein_id="NP_004604.1"
                     /db_xref="GI:4759228"
                     /db_xref="LocusID:7052"
                     /db_xref="MIM:190196"
                     /translation="MAEELVLERCDLELETNGRDHHTADLCREKLVVRRGQPFWLTLH
                     FEGRNYQASVDSLTFSVVTGPAPSQEAGTKARFPLRDAVEEGDWTATVVDQQDCTLSL
                     QLTTPANAPIGLYRLSLEASTGYQGSSFVLGHFILLFNAWCPADAVYLDSEEERQEYV
                     LTQQGFIYQGSAKFIKNIPWNFGQFQDGILDICLILLDVNPKFLKNAGRDCSRRSSPV
                     YVGRVGSGMVNCNDDQGVLLGRWDNNYGDGVSPMSWIGSVDILRRWKNHGCQRVKYGQ
                     CWVFAAVACTVLRCLGIPTRVVTNYNSAHDQNSNLLIEYFRNEFGEIQGDKSEMIWNF
                     HCWVESWMTRPDLQPGYEGWQALDPTPQEKSEGTYCCGPVPVRAIKEGDLSTKYDAPF
                     VFAEVNADVVDWIQQDDGSVHKSINRSLIVGLKISTKSVGRDEREDITHTYKYPEGSS
                     EEREAFTRANHLNKLAEKEETGMAMRIRVGQSMNMGSDFDVFAHITNNTAEEYVCRLL
                     LCARTVSYNGILGPECGTKYLLNLTLEPFSEKSVPLCILYEKYRDCLTESNLIKVRAL
                     LVEPVINSYLLAERDLYLENPEIKIRILGEPKQKRKLVAEVSLQNPLPVALEGCTFTV
                     EGAGLTEEQKTVEIPDPVEAGEEVKVRMDLVPLHMGLHKLVVNFESDKLKAVKGFRNV
                     IIGPA"
     misc_feature    139..507
                     /gene="TGM2"
                     /note="Transglutamin_N; Region: Transglutaminase family"
                     /db_xref="CDD:pfam00868"
     misc_feature    949..1215
                     /gene="TGM2"
                     /note="Transglut_core; Region: Transglutaminase-like
                     superfamily"
                     /db_xref="CDD:pfam01841"
     misc_feature    952..1215
                     /gene="TGM2"
                     /note="TGc; Region: Transglutaminase/protease-like
                     homologues"
                     /db_xref="CDD:TGc"
     misc_feature    1507..2193
                     /gene="TGM2"
                     /note="Transglutamin_C; Region: Transglutaminase family"
                     /db_xref="CDD:pfam00927"
     variation       286
                     /gene="TGM2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1062735"
     variation       691
                     /gene="TGM2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1139699"
     variation       1113
                     /gene="TGM2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2229471"
     variation       1305
                     /gene="TGM2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2229470"
     variation       1759
                     /gene="TGM2"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:2229473"
     variation       2058
                     /gene="TGM2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2229472"
     variation       2282
                     /gene="TGM2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1062736"
     variation       2932
                     /gene="TGM2"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1062737"
     variation       3083
                     /gene="TGM2"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1804503"
     variation       3091
                     /gene="TGM2"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1804502"
BASE COUNT      716 a    974 c    945 g    622 t
ORIGIN      
        1 aacaggcgtg acgccagttc taaacttgaa acaaaacaaa acttcaaagt acaccaaaat
       61 agaacctcct taaagcataa atctcacgga gggtctcggc cgccagtgga aggagccacc
      121 gcccccgccc cgaccatggc cgaggagctg gtcttagaga ggtgtgatct ggagctggag
      181 accaatggcc gagaccacca cacggccgac ctgtgccggg agaagctggt ggtgcgacgg
      241 ggccagccct tctggctgac cctgcacttt gagggccgca actaccaggc cagtgtagac
      301 agtctcacct tcagtgtcgt gaccggccca gcccctagcc aggaggccgg gaccaaggcc
      361 cgttttccac taagagatgc tgtggaggag ggtgactgga cagccaccgt ggtggaccag
      421 caagactgca ccctctcgct gcagctcacc accccggcca acgcccccat cggcctgtat
      481 cgcctcagcc tggaggcctc cactggctac cagggatcca gctttgtgct gggccacttc
      541 attttgctct tcaacgcctg gtgcccagcg gatgctgtgt acctggactc ggaagaggag
      601 cggcaggagt atgtcctcac ccagcagggc tttatctacc agggctcggc caagttcatc
      661 aagaacatac cttggaattt tgggcagttt caagatggga tcctagacat ctgcctgatc
      721 cttctagatg tcaaccccaa gttcctgaag aacgccggcc gtgactgctc ccggcgcagc
      781 agccccgtct acgtgggccg ggtgggtagt ggcatggtca actgcaacga tgaccagggt
      841 gtgctgctgg gacgctggga caacaactac ggggacggcg tcagccccat gtcctggatc
      901 ggcagcgtgg acatcctgcg gcgctggaag aaccacggct gccagcgcgt caagtatggc
      961 cagtgctggg tcttcgccgc cgtggcctgc acagtgctga ggtgcctagg catccctacc
     1021 cgcgtcgtga ccaactacaa ctcggcccat gaccagaaca gcaaccttct catcgagtac
     1081 ttccgcaatg agtttgggga gatccagggt gacaagagcg agatgatctg gaacttccac
     1141 tgctgggtgg agtcgtggat gaccaggccg gacctgcagc cggggtacga gggctggcag
     1201 gccctggacc caacgcccca ggagaagagc gaaggaacgt actgctgtgg cccagttcca
     1261 gttcgtgcca tcaaggaggg cgacctgagc accaagtacg atgcgccctt tgtctttgcg
     1321 gaggtcaatg ccgacgtggt agactggatc cagcaggacg atgggtctgt gcacaaatcc
     1381 atcaaccgtt ccctgatcgt tgggctgaag atcagcacta agagcgtggg ccgagacgag
     1441 cgggaggata tcacccacac ctacaaatac ccagaggggt cctcagagga gagggaggcc
     1501 ttcacaaggg cgaaccacct gaacaaactg gccgagaagg aggagacagg gatggccatg
     1561 cggatccgtg tgggccagag catgaacatg ggcagtgact ttgacgtctt tgcccacatc
     1621 accaacaaca ccgctgagga gtacgtctgc cgcctcctgc tctgtgcccg caccgtcagc
     1681 tacaatggga tcttggggcc cgagtgtggc accaagtacc tgctcaacct aaccctggag
     1741 cctttctctg agaagagcgt tcctctttgc atcctctatg agaaataccg tgactgcctt
     1801 acggagtcca acctcatcaa ggtgcgggcc ctcctcgtgg agccagttat caacagctac
     1861 ctgctggctg agagggacct ctacctggag aatccagaaa tcaagatccg gatccttggg
     1921 gagcccaagc agaaacgcaa gctggtggct gaggtgtccc tgcagaaccc gctccctgtg
     1981 gccctggaag gctgcacctt cactgtggag ggggccggcc tgactgagga gcagaagacg
     2041 gtggagatcc cagaccccgt ggaggcaggg gaggaagtta aggtgagaat ggacctcgtg
     2101 ccgctccaca tgggcctcca caagctggtg gtgaacttcg agagcgacaa gctgaaggct
     2161 gtgaagggct tccggaatgt catcattggc cccgcctaag ggacccctgc tcccagcctg
     2221 ctgagagccc ccaccttgat cccaatcctt atcccaagct agtgagcaaa atatgcccct
     2281 tattgggccc cagaccccag ggcagggtgg gcagcctatg ggggctctcg gaaatggaat
     2341 gtgcccctgg cccatctcag cctcctgagc ctgtgggtcc ccactcaccc cctttgctgt
     2401 gaggaatgct ctgtgccaga aacagtggga gccctgacct gtgctgactg gggctggggt
     2461 gagagaggaa agacctacat tccctctcct gcccagatgc cctttggaaa gccattgacc
     2521 acccaccata ttgtttgatc tacttcatag ctccttggag caggcaaaaa agggacagca
     2581 tgcccttggc tggatcagga atccagctcc ctagactgca tcccgtacct cttcccatga
     2641 ctgcacccag ctccaggggc ccttgggaca cccagagctg ggtggggaca gtgataggcc
     2701 caaggtcccc tccacatccc agcagcccaa gcttaatagc cctccccctc aacctcacca
     2761 ttgtgaagca cctactatgt gctgggtgcc tcccacactt gctggggctc acggggcctc
     2821 caacccattt aatcaccatg ggaaactgtt gtgggcgctg cttccaggat aaggagactg
     2881 aggcttagag agaggaggca gccccctcca caccagtggc ctcgtggtta taagcaaggc
     2941 tgggtaatgt gaaggcccaa gagcagagtc tgggcctctg actctgagtc cactgctcca
     3001 tttataaccc cagcctgacc tgagactgtc gcagaggctg tctggggcct ttatcaaaaa
     3061 aagactcagc caagacaagg aggtagagag gggactgggg gactgggagt cagagccctg
     3121 gctgggttca ggtcccacgt ctggccagcg actgccttct cctctctggg cctttgtttc
     3181 cttgttggtc agaggagtga ttgaacctgc tcatctccaa ggatcctctc cactccatgt
     3241 ttgcaataca caattcc
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_014764. Homo sapiens DAZ ...[gi:7661885] Links  


LOCUS       DAZAP2                  1897 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens DAZ associated protein 2 (DAZAP2), mRNA.
ACCESSION   NM_014764
VERSION     NM_014764.1  GI:7661885
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1
  AUTHORS   Nomura,N., Nagase,T., Miyajima,N., Sazuka,T., Tanaka,A., Sato,S.,
            Seki,N., Kawarabayasi,Y., Ishikawa,K. and Tabata,S.
  TITLE     Prediction of the coding sequences of unidentified human genes. II.
            The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by
            analysis of cDNA clones from human cell line KG-1
  JOURNAL   DNA Res. 1 (5), 223-229 (1994)
  MEDLINE   96051398
REFERENCE   2  (bases 1 to 1897)
  AUTHORS   Tsui,S., Dai,T., Roettger,S., Schempp,W., Salido,E.C. and Yen,P.H.
  TITLE     Identification of two novel proteins that interact with
            germ-cell-specific RNA-binding proteins DAZ and DAZL1
  JOURNAL   Genomics 65 (3), 266-273 (2000)
  MEDLINE   20313893
   PUBMED   10857750
COMMENT     PREDICTED REFSEQ: The mRNA record is supported by experimental
            evidence; however, the coding sequence is predicted. The reference
            sequence was derived from D31767.1.
FEATURES             Location/Qualifiers
     source          1..1897
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33-q34"
                     /sex="male"
                     /cell_line="KG-1"
                     /cell_type="myeloblast"
     gene            1..1897
                     /gene="DAZAP2"
                     /note="KIAA0058"
                     /db_xref="LocusID:9802"
     CDS             70..576
                     /gene="DAZAP2"
                     /note="KIAA0058 gene product"
                     /codon_start=1
                     /evidence=not_experimental
                     /product="DAZ associated protein 2"
                     /protein_id="NP_055579.1"
                     /db_xref="GI:7661886"
                     /db_xref="LocusID:9802"
                     /translation="MNSKGQYPTQPTYPVQPPGNPVYPQTLHLPQAPPYTDAPPAYSE
                     LYRPSFVHPGAATVPTMSAAFPGASLYLPMAQSVAVGPLGSTIPMAYYPVGPIYPPGS
                     TVLVEGGYDAGARFGAGATAGNIPPPPPGCPPNAAQLAVMQGANVLVTQRKGNFFMGG
                     SDGGYTIW"
     variation       197
                     /gene="DAZAP2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1804089"
     variation       238
                     /gene="DAZAP2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1804086"
     variation       593
                     /gene="DAZAP2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1049467"
     variation       861
                     /gene="DAZAP2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:14678"
     variation       1052
                     /gene="DAZAP2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:15839"
     variation       1238
                     /gene="DAZAP2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3189643"
     variation       1238
                     /gene="DAZAP2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1130598"
     variation       1559
                     /gene="DAZAP2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1804087"
     variation       1575
                     /gene="DAZAP2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3189724"
     variation       1575
                     /gene="DAZAP2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1130641"
BASE COUNT      478 a    455 c    391 g    573 t
ORIGIN      
        1 ctccgaacag gaagaggacg aaaaaaataa ccgtccgcga cgccgagaca aaccggaccc
       61 gcaaccacca tgaacagcaa aggtcaatat ccaacacagc caacctaccc tgtgcagcct
      121 cctgggaatc cagtataccc tcagaccttg catcttcctc aggctccacc ctataccgat
      181 gctccacctg cctactcaga gctctatcgt ccgagctttg tgcacccagg ggctgccaca
      241 gtccccacca tgtcagccgc atttcctgga gcctctctgt atcttcccat ggcccagtct
      301 gtggctgttg ggcctttagg ttccacaatc cccatggctt attatccagt cggtcccatc
      361 tatccacctg gctccacagt gctggtggaa ggagggtatg atgcaggtgc cagatttgga
      421 gctggggcta ctgctggcaa cattcctcct ccacctcctg gatgccctcc caatgctgct
      481 cagcttgcag tcatgcaggg agccaacgtc ctcgtaactc agcggaaggg gaacttcttc
      541 atgggtggtt cagatggtgg ctacaccatc tggtgaggaa ccaaggccac ctctgtgccg
      601 ggaaagacat cacatacctt cagcacttct cacaatgtaa ctgctttagt catattaacc
      661 tgaagttgca gtttagacac atgttgttgg ggtgtctttc tggtgcccaa actttcaggc
      721 acttttcaaa tttaataagg aaccatgtaa tggtagcagt acctccctaa agcattttga
      781 ggtaggggag gtatccattc ataaaatgaa tgtgggtgaa gccgccctaa ggattttcct
      841 ttaatttctc tggagtaata ctgtaccata ctggtctttg cttttagtaa taaaacatca
      901 aattaggttt ggagggaact ttgatcttcc taagaattaa agttgccaaa ttattctgat
      961 tggtctttaa tctcctttaa gtctttgata tatattactt gttataaatg gaacgcatta
     1021 gttgtctgcc ttttcctttc catcccttgc cccacccatc ccatctccaa ccctagtctt
     1081 ccatttcctc ccgccagtct ccattgaatc aatggtgcag gacagaaagc cagtcagact
     1141 aatttccttc tttcctcgca cttctcccca ctcgtcatct tttaactagt gtttcacaag
     1201 gatcctctga aaccctctct gtgccccaag tacagatgcc attacttctg ctttcgtatc
     1261 tcctcaggca aaagtggagg gtgccttatg ggccctcctc ataggttgtc tctgcataca
     1321 cgaacctaac ccaaatttgc tttggtgcca gaaaaactga gctatgtttg aacaaagatg
     1381 tcgtgcaaac tgtactgtga acaacagttg gtttaaaata tgaggggcaa ggaggaggat
     1441 gcatttcaaa agcttgattg atgtgttcag agctaaatta agaggagttt tcagatcaaa
     1501 aactggttac cattttttgt cagagtgtct gatgcggcca ctcattcggc tccccagaat
     1561 tcctagactg ggttaatagg gtcatattgt gaatgtctca ctacaaaatg acttgagtcc
     1621 agtgaaatct cattagggtt taagaatatt tcagggatcc ttaatgtttt gatttttgtt
     1681 ttctgaaatt ggattttatt ttattttatc ttataatttc agttcatcta aattgtgtgt
     1741 tctgtacatg tgatgtttga ctgtaccatt gactgttatg gaagttcagc gttgtatgtc
     1801 tctctctaca ctgtggtgca cttaacttgt ggaattttta tactaaaaat gtagaataaa
     1861 gactattttg aagatttgaa taaagtgatg aagttgc
//



Revised: July 5, 2002.
 
 


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1: NM_006475. Homo sapiens oste...[gi:5453833] Links  


LOCUS       OSF-2                   3213 bp    mRNA    linear   PRI 14-MAY-2002
DEFINITION  Homo sapiens osteoblast specific factor 2 (fasciclin I-like)
            (OSF-2), mRNA.
ACCESSION   NM_006475
VERSION     NM_006475.1  GI:5453833
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3213)
  AUTHORS   Kikuno,R.
  TITLE     Homo sapiens osteoblast specific factor 2 (fasciclin I-like)
            (OSF-2), mRNA
  JOURNAL   Unpublished (1992)
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from D13666.1.
FEATURES             Location/Qualifiers
     source          1..3213
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q13.2"
                     /clone="pKOT158"
                     /cell_type="osteoblast"
                     /tissue_type="osteosarcoma"
     gene            1..3213
                     /gene="OSF-2"
                     /db_xref="LocusID:10631"
     CDS             12..2522
                     /gene="OSF-2"
                     /note="OSF-2os"
                     /codon_start=1
                     /product="osteoblast specific factor 2 (fasciclin I-like)"
                     /protein_id="NP_006466.1"
                     /db_xref="GI:5453834"
                     /db_xref="LocusID:10631"
                     /translation="MIPFLPMFSLLLLLIVNPINANNHYDKILAHSRIRGRDQGPNVC
                     ALQQILGTKKKYFSTCKNWYKKSICGQKTTVLYECCPGYMRMEGMKGCPAVLPIDHVY
                     GTLGIVGATTTQRYSDASKLREEIEGKGSFTYFAPSNEAWDNLDSDIRRGLESNVNVE
                     LLNALHSHMINKRMLTKDLKNGMIIPSMYNNLGLFINHYPNGVVTVNCARIIHGNQIA
                     TNGVVHVIDRVLTQIGTSIQDFIEAEDDLSSFRAAAITSDILEALGRDGHFTLFAPTN
                     EAFEKLPRGVLERFMGDKVASEALMKYHILNTLQCSESIMGGAVFETLEGNTIEIGCD
                     GDSITVNGIKMVNKKDIVTNNGVIHLIDQVLIPDSAKQVIELAGKQQTTFTDLVAQLG
                     LASALRPDGEYTLLAPVNNAFSDDTLSMVQRLLKLILQNHILKVKVGLNELYNGQILE
                     TIGGKQLRVFVYRTAVCIENSCMEKGSKQGRNGAIHIFREIIKPAEKSLHEKLKQDKR
                     FSTFLSLLEAADLKELLTQPGDWTLFVPTNDAFKGMTSEEKEILIRDKNALQNIILYH
                     LTPGVFIGKGFEPGVTNILKTTQGSKIFLKEVNDTLLVNELKSKESDIMTTNGVIHVV
                     DKLLYPADTPVGNDQLLEILNKLIKYIQIKFVRGSTFKEIPVTVYTTKIITKVVEPKI
                     KVIEGSLQPIIKTEGPTLTKVKIEGEPEFRLIKEGETITEVIHGEPIIKKYTKIIDGV
                     PVEITEKETREERIITGPEIKYTRISTGGGETEETLKKLLQEEVTKVTKFIEGGDGHL
                     FEDEEIKRLLQGDTPVRKLQANKKVQGSRRRLREGRSQ"
     misc_feature    342..701
                     /gene="OSF-2"
                     /note="Fasciclin; Region: Fasciclin domain"
                     /db_xref="CDD:pfam02469"
     misc_feature    408..701
                     /gene="OSF-2"
                     /note="FAS1; Region: Four repeated domains in the
                     Fasciclin I family of proteins, present in many other
                     contexts"
                     /db_xref="CDD:smart00554"
     misc_feature    714..1112
                     /gene="OSF-2"
                     /note="Fasciclin; Region: Fasciclin domain"
                     /db_xref="CDD:pfam02469"
     misc_feature    819..1112
                     /gene="OSF-2"
                     /note="FAS1; Region: Four repeated domains in the
                     Fasciclin I family of proteins, present in many other
                     contexts"
                     /db_xref="CDD:smart00554"
     misc_feature    1146..1493
                     /gene="OSF-2"
                     /note="Fasciclin; Region: Fasciclin domain"
                     /db_xref="CDD:pfam02469"
     misc_feature    1221..1493
                     /gene="OSF-2"
                     /note="FAS1; Region: Four repeated domains in the
                     Fasciclin I family of proteins, present in many other
                     contexts"
                     /db_xref="CDD:smart00554"
     misc_feature    1500..1901
                     /gene="OSF-2"
                     /note="Fasciclin; Region: Fasciclin domain"
                     /db_xref="CDD:pfam02469"
     misc_feature    1605..1901
                     /gene="OSF-2"
                     /note="FAS1; Region: Four repeated domains in the
                     Fasciclin I family of proteins, present in many other
                     contexts"
                     /db_xref="CDD:smart00554"
     variation       236
                     /gene="OSF-2"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3196136"
     variation       879
                     /gene="OSF-2"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3205088"
     variation       1273
                     /gene="OSF-2"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3196138"
     variation       1273
                     /gene="OSF-2"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1133973"
     variation       2486
                     /gene="OSF-2"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1133986"
     variation       2913
                     /gene="OSF-2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:12848"
     polyA_signal    3118..3123
                     /gene="OSF-2"
     variation       3160
                     /gene="OSF-2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:6750"
BASE COUNT     1096 a    590 c    654 g    873 t
ORIGIN      
        1 agagactcaa gatgattccc tttttaccca tgttttctct actattgctg cttattgtta
       61 accctataaa cgccaacaat cattatgaca agatcttggc tcatagtcgt atcaggggtc
      121 gggaccaagg cccaaatgtc tgtgcccttc aacagatttt gggcaccaaa aagaaatact
      181 tcagcacttg taagaactgg tataaaaagt ccatctgtgg acagaaaacg actgttttat
      241 atgaatgttg ccctggttat atgagaatgg aaggaatgaa aggctgccca gcagttttgc
      301 ccattgacca tgtttatggc actctgggca tcgtgggagc caccacaacg cagcgctatt
      361 ctgacgcctc aaaactgagg gaggagatcg agggaaaggg atccttcact tactttgcac
      421 cgagtaatga ggcttgggac aacttggatt ctgatatccg tagaggtttg gagagcaacg
      481 tgaatgttga attactgaat gctttacata gtcacatgat taataagaga atgttgacca
      541 aggacttaaa aaatggcatg attattcctt caatgtataa caatttgggg cttttcatta
      601 accattatcc taatggggtt gtcactgtta attgtgctcg aatcatccat gggaaccaga
      661 ttgcaacaaa tggtgttgtc catgtcattg accgtgtgct tacacaaatt ggtacctcaa
      721 ttcaagactt cattgaagca gaagatgacc tttcatcttt tagagcagct gccatcacat
      781 cggacatatt ggaggccctt ggaagagacg gtcacttcac actctttgct cccaccaatg
      841 aggcttttga gaaacttcca cgaggtgtcc tagaaaggtt catgggagac aaagtggctt
      901 ccgaagctct tatgaagtac cacatcttaa atactctcca gtgttctgag tctattatgg
      961 gaggagcagt ctttgagacg ctggaaggaa atacaattga gataggatgt gacggtgaca
     1021 gtataacagt aaatggaatc aaaatggtga acaaaaagga tattgtgaca aataatggtg
     1081 tgatccattt gattgatcag gtcctaattc ctgattctgc caaacaagtt attgagctgg
     1141 ctggaaaaca gcaaaccacc ttcacggatc ttgtggccca attaggcttg gcatctgctc
     1201 tgaggccaga tggagaatac actttgctgg cacctgtgaa taatgcattt tctgatgata
     1261 ctctcagcat ggttcagcgc ctccttaaat taattctgca gaatcacata ttgaaagtaa
     1321 aagttggcct taatgagctt tacaacgggc aaatactgga aaccatcgga ggcaaacagc
     1381 tcagagtctt cgtatatcgt acagctgtct gcattgaaaa ttcatgcatg gagaaaggga
     1441 gtaagcaagg gagaaacggt gcgattcaca tattccgcga gatcatcaag ccagcagaga
     1501 aatccctcca tgaaaagtta aaacaagata agcgctttag caccttcctc agcctacttg
     1561 aagctgcaga cttgaaagag ctcctgacac aacctggaga ctggacatta tttgtgccaa
     1621 ccaatgatgc ttttaaggga atgactagtg aagaaaaaga aattctgata cgggacaaaa
     1681 atgctcttca aaacatcatt ctttatcacc tgacaccagg agttttcatt ggaaaaggat
     1741 ttgaacctgg tgttactaac attttaaaga ccacacaagg aagcaaaatc tttctgaaag
     1801 aagtaaatga tacacttctg gtgaatgaat tgaaatcaaa agaatctgac atcatgacaa
     1861 caaatggtgt aattcatgtt gtagataaac tcctctatcc agcagacaca cctgttggaa
     1921 atgatcaact gctggaaata cttaataaat taatcaaata catccaaatt aagtttgttc
     1981 gtggtagcac cttcaaagaa atccccgtga ctgtctatac aactaaaatt ataaccaaag
     2041 ttgtggaacc aaaaattaaa gtgattgaag gcagtcttca gcctattatc aaaactgaag
     2101 gacccacact aacaaaagtc aaaattgaag gtgaacctga attcagactg attaaagaag
     2161 gtgaaacaat aactgaagtg atccatggag agccaattat taaaaaatac accaaaatca
     2221 ttgatggagt gcctgtggaa ataactgaaa aagagacacg agaagaacga atcattacag
     2281 gtcctgaaat aaaatacact aggatttcta ctggaggtgg agaaacagaa gaaactctga
     2341 agaaattgtt acaagaagag gtcaccaagg tcaccaaatt cattgaaggt ggtgatggtc
     2401 atttatttga agatgaagaa attaaaagac tgcttcaggg agacacaccc gtgaggaagt
     2461 tgcaagccaa caaaaaagtt caaggttcta gaagacgatt aagggaaggt cgttctcagt
     2521 gaaaatccaa aaaccagaaa aaaatgttta tacaacccta agtcaataac ctgaccttag
     2581 aaaattgtga gagccaagtt gacttcagga actgaaacat cagcacaaag aagcaatcat
     2641 caaataattc tgaacacaaa tttaatattt ttttttctga atgagaaaca tgagggaaat
     2701 tgtggagtta gcctcctgtg gtaaaggaat tgaagaaaat ataacacctt acaccctttt
     2761 tcatcttgac attaaaagtt ctggctaact ttggaatcca ttagagaaaa atccttgtca
     2821 ccagattcat tacaattcaa atcgaagagt tgtgaactgt tatcccattg aaaagaccga
     2881 gccttgtatg tatgttatgg atacataaaa tgcacgcaag ccattatctc tccatgggaa
     2941 gctaagttat aaaaataggt gcttggtgta caaaactttt tatatcaaaa ggctttgcac
     3001 atttctatat gagtgggttt actggtaaat tatgttattt tttacaacta attttgtact
     3061 ctcagaatgt ttgtcatatg cttcttgcaa tgcatatttt ttaatctcaa acgtttcaat
     3121 aaaaccattt ttcagatata aagagaatta cttcaaattg agtaattcag aaaaactcaa
     3181 gatttaagtt aaaaagtggt ttggacttgg gaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

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   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene  for        
 
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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_005561. Homo sapiens lyso...[gi:7669500] Links  


LOCUS       LAMP1                   2455 bp    mRNA    linear   PRI 01-NOV-2000
DEFINITION  Homo sapiens lysosomal-associated membrane protein 1 (LAMP1), mRNA.
ACCESSION   NM_005561
VERSION     NM_005561.2  GI:7669500
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2455)
  AUTHORS   Viitala,J., Carlsson,S.R., Siebert,P.D. and Fukuda,M.
  TITLE     Molecular cloning of cDNAs encoding lamp A, a human lysosomal
            membrane glycoprotein with apparent Mr approximately equal to
            120,000
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 85 (11), 3743-3747 (1988)
  MEDLINE   88234502
   PUBMED   3131762
REFERENCE   2  (bases 1 to 2455)
  AUTHORS   Fukuda,M., Viitala,J., Matteson,J. and Carlsson,S.R.
  TITLE     Cloning of cDNAs encoding human lysosomal membrane glycoproteins,
            h-lamp-1 and h-lamp-2. Comparison of their deduced amino acid
            sequences
  JOURNAL   J. Biol. Chem. 263 (35), 18920-18928 (1988)
  MEDLINE   89066687
   PUBMED   3198605
REFERENCE   3  (bases 1 to 2455)
  AUTHORS   Mane,S.M., Marzella,L., Bainton,D.F., Holt,V.K., Cha,Y.,
            Hildreth,J.E. and August,J.T.
  TITLE     Purification and characterization of human lysosomal membrane
            glycoproteins
  JOURNAL   Arch. Biochem. Biophys. 268 (1), 360-378 (1989)
  MEDLINE   89104438
   PUBMED   2912382
REFERENCE   4  (bases 1 to 2455)
  AUTHORS   Carlsson,S.R. and Fukuda,M.
  TITLE     Structure of human lysosomal membrane glycoprotein 1. Assignment of
            disulfide bonds and visualization of its domain arrangement
  JOURNAL   J. Biol. Chem. 264 (34), 20526-20531 (1989)
  MEDLINE   90062189
   PUBMED   2584229
REFERENCE   5  (bases 1 to 2455)
  AUTHORS   Mattei,M.G., Matterson,J., Chen,J.W., Williams,M.A. and Fukuda,M.
  TITLE     Two human lysosomal membrane glycoproteins, h-lamp-1 and h-lamp-2,
            are encoded by genes localized to chromosome 13q34 and chromosome
            Xq24-25, respectively
  JOURNAL   J. Biol. Chem. 265 (13), 7548-7551 (1990)
  MEDLINE   90237058
   PUBMED   2332441
REFERENCE   6  (bases 1 to 2455)
  AUTHORS   Carlsson,S.R. and Fukuda,M.
  TITLE     The polylactosaminoglycans of human lysosomal membrane
            glycoproteins lamp-1 and lamp-2. Localization on the peptide
            backbones
  JOURNAL   J. Biol. Chem. 265 (33), 20488-20495 (1990)
  MEDLINE   91056099
   PUBMED   2243102
REFERENCE   7  (bases 1 to 2455)
  AUTHORS   Schleutker,J., Haataja,L., Renlund,M., Puhakka,L., Viitala,J.,
            Peltonen,L. and Aula,P.
  TITLE     Confirmation of the chromosomal localization of human lamp genes
            and their exclusion as candidate genes for Salla disease
  JOURNAL   Hum. Genet. 88 (1), 95-97 (1991)
  MEDLINE   92070952
   PUBMED   1959930
REFERENCE   8  (bases 1 to 2455)
  AUTHORS   Sawada,R., Jardine,K.A. and Fukuda,M.
  TITLE     The genes of major lysosomal membrane glycoproteins, lamp-1 and
            lamp-2. 5'-flanking sequence of lamp-2 gene and comparison of exon
            organization in two genes
  JOURNAL   J. Biol. Chem. 268 (12), 9014-9022 (1993)
  MEDLINE   93232065
   PUBMED   8517882
REFERENCE   9  (bases 1 to 2455)
  AUTHORS   Carlsson,S.R., Lycksell,P.O. and Fukuda,M.
  TITLE     Assignment of O-glycan attachment sites to the hinge-like regions
            of human lysosomal membrane glycoproteins lamp-1 and lamp-2
  JOURNAL   Arch. Biochem. Biophys. 304 (1), 65-73 (1993)
  MEDLINE   93312023
   PUBMED   8323299
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from J04182.1.
            On Apr 28, 2000 this sequence version replaced gi:5031848.
            Summary: The protein encoded by this gene is a member of a family
            of membrane glycoproteins.  This glycoprotein provides selectins
            with carbohydrate ligands.  It may also play a role in tumor cell
            metastasis.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2455
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q34"
     gene            1..2455
                     /gene="LAMP1"
                     /note="CD107a; LAMPA"
                     /db_xref="LocusID:3916"
                     /db_xref="MIM:153330"
     CDS             191..1441
                     /gene="LAMP1"
                     /codon_start=1
                     /product="lysosomal-associated membrane protein 1"
                     /protein_id="NP_005552.2"
                     /db_xref="GI:7669501"
                     /db_xref="LocusID:3916"
                     /db_xref="MIM:153330"
                     /translation="MAPRSARRPLLLLLPVAAARPHALSSAAMFMVKNGNGTACIMAN
                     FSAAFSVNYDTKSGPKNMTFDLPSDATVVLNRSSCGKENTSDPSLVIAFGRGHTLTLN
                     FTRNATRYSVQLMSFVYNLSDTHLFPNASSKEIKTVESITDIRADIDKKYRCVSGTQV
                     HMNNVTVTLHDATIQAYLSNSSFSRGETRCEQDRPSPTTAPPAPPSPSPSPVPKSPSV
                     DKYNVSGTNGTCLLASMGLQLNLTYERKDNTTVTRLLNINPNKTSASGSCGAHLVTLE
                     LHSEGTTVLLFQFGMNASSSRFFLQGIQLNTILPDARDPAFKAANGSLRALQATVGNS
                     YKCNAEEHVRVTKAFSVNIFKVWVQAFKVEGGQFGSVEECLLDENSTLIPIAVGGALA
                     GLVLIVLIAYLVGRKRSHAGYQTI"
     sig_peptide     191..271
                     /gene="LAMP1"
     mat_peptide     272..1438
                     /gene="LAMP1"
                     /product="lysosomal-associated membrane protein 1"
     misc_feature    317..1438
                     /gene="LAMP1"
                     /note="Lamp; Region: Lysosome-associated membrane
                     glycoprotein (Lamp)"
                     /db_xref="CDD:pfam01299"
     variation       1900
                     /gene="LAMP1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1803895"
     variation       2267..2268
                     /gene="LAMP1"
                     /allele="-"
                     /allele="T"
                     /db_xref="dbSNP:3833987"
     variation       2313
                     /gene="LAMP1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1057122"
     variation       2325
                     /gene="LAMP1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:15203"
     variation       2339
                     /gene="LAMP1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3197762"
     variation       2348
                     /gene="LAMP1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1803896"
     polyA_signal    2418..2423
                     /gene="LAMP1"
BASE COUNT      530 a    671 c    677 g    577 t
ORIGIN      
        1 gaattcgggc gggcttcttc gctgccgacg tacgacgagt ggccgggctc ttgcgtctgg
       61 taacgcgctg tctctaacgc cagcgccgtc tcgcgcgcac tgcgcacaga ccacccgcag
      121 acgcccggca gtccgcaggc ccaaacgcgc acgcgacccc gctctccgca ccgtacccgg
      181 ccgcctcggc atggcgcccc gcagcgcccg gcgacccctg ctgctgctac tgcctgttgc
      241 tgctgctcgg cctcatgcat tgtcgtcagc agccatgttt atggtgaaaa atggcaacgg
      301 gaccgcgtgc ataatggcca acttctctgc tgccttctca gtgaactacg acaccaagag
      361 tggccccaag aacatgacct ttgacctgcc atcagatgcc acagtggtgc tcaaccgcag
      421 ctcctgtgga aaagagaaca cttctgaccc cagtctcgtg attgcttttg gaagaggaca
      481 tacactcact ctcaatttca cgagaaatgc aacacgttac agcgttcagc tcatgagttt
      541 tgtttataac ttgtcagaca cacacctttt ccccaatgcg agctccaaag aaatcaagac
      601 tgtggaatct ataactgaca tcagggcaga tatagataaa aaatacagat gtgttagtgg
      661 cacccaggtc cacatgaaca acgtgaccgt aacgctccat gatgccacca tccaggcgta
      721 cctttccaac agcagcttca gcaggggaga gacacgctgt gaacaagaca ggccttcccc
      781 aaccacagcg ccccctgcgc cacccagccc ctcgccctca cccgtgccca agagcccctc
      841 tgtggacaag tacaacgtga gcggcaccaa cgggacctgc ctgctggcca gcatggggct
      901 gcagctgaac ctcacctatg agaggaagga caacacgacg gtgacaaggc ttctcaacat
      961 caaccccaac aagacctcgg ccagcgggag ctgcggcgcc cacctggtga ctctggagct
     1021 gcacagcgag ggcaccaccg tcctgctctt ccagttcggg atgaatgcaa gttctagccg
     1081 gtttttccta caaggaatcc agttgaatac aattcttcct gacgccagag accctgcctt
     1141 taaagctgcc aacggctccc tgcgagcgct gcaggccaca gtcggcaatt cctacaagtg
     1201 caacgcggag gagcacgtcc gtgtcacgaa ggcgttttca gtcaatatat tcaaagtgtg
     1261 ggtccaggct ttcaaggtgg aaggtggcca gtttggctct gtggaggagt gtctgctgga
     1321 cgagaacagc acgctgatcc ccatcgctgt gggtggtgcc ctggcggggc tggtcctcat
     1381 cgtcctcatc gcctacctcg tcggcaggaa gaggagtcac gcaggctacc agactatcta
     1441 gcctggtgca cgcaggcaca gcagctgcag gggcctctgt tcctttctct gggcttaggg
     1501 tcctgtcgaa ggggaggcac actttctgca aacgtttctc aaatctgctt catccaatgt
     1561 gaagttcatc ttgcagcatt tactatgcac aacagagtaa ctatcgaaat gacggtgtta
     1621 attttgctaa ctgggttaaa tattttgcta actggttaaa cattaatatt taccaaagta
     1681 ggattttgag ggtgggggtg ctctctctga gggggtgggg gtgccgctgt ctctgagggg
     1741 tgggggtgcc gctgtctgag gggtgggggt gccgctctct ctgagggggt gggggtgccg
     1801 ctttctctga gggggtgggg gtgccgctct ctctgagggg gtgggggtgc tgctctctcc
     1861 gaggggtgga atgccgctgt ctctgagggg tgggggtgcc gctctaaatt ggctccatat
     1921 cattgagttt agggttctgg tgtttggttt cttcattctt tactgcactc agatttaagc
     1981 cttacaaagg gaaacctctg gccgtcacac gtaggacgca tgaaggtcac tcgtgtgagg
     2041 ctgacatgct cacacattac aacagtagag agggaaaatc ctaagacaga ggaactccag
     2101 agatgagtgt ctggagcggc ttcagttcag ctttaaaggc caggacgcgc gacacgtggc
     2161 tggcggcctc gttccagtgg cggcacgtcc ttggcgtctc taatgtctgc agctcaaggg
     2221 ctggcacttt tttaaatata aaaatggtgt tatttttatt tttttttgta aagtgatttt
     2281 tggtcttctg ttgacattcg ggtgatcctg ttctgcgctg tgtacaatgt gagatcggtg
     2341 cgttctcctg atgttttgcc gtggcttggg gattgtacac gggaccagct cacgtaatgc
     2401 attgcctgta acaatgtaat aaaaagcctc tttctttcaa aaaaaccccg aattc
//



Revised: July 5, 2002.
 
 


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1: NM_000714. Homo sapiens benz...[gi:21536444] Links  


LOCUS       BZRP                     848 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens benzodiazapine receptor (peripheral) (BZRP), nuclear
            gene encoding mitochondrial protein, transcript variant PBR, mRNA.
ACCESSION   NM_000714
VERSION     NM_000714.3  GI:21536444
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 848)
  AUTHORS   Riond,J., Mattei,M.G., Kaghad,M., Dumont,X., Guillemot,J.C., Le
            Fur,G., Caput,D. and Ferrara,P.
  TITLE     Molecular cloning and chromosomal localization of a human
            peripheral-type benzodiazepine receptor
  JOURNAL   Eur. J. Biochem. 195 (2), 305-311 (1991)
  MEDLINE   91146565
   PUBMED   1847678
REFERENCE   2  (bases 1 to 848)
  AUTHORS   Chang,Y.J., McCabe,R.T., Rennert,H., Budarf,M.L., Sayegh,R.,
            Emanuel,B.S., Skolnick,P. and Strauss,J.F. III.
  TITLE     The human 'peripheral-type' benzodiazepine receptor: regional
            mapping of the gene and characterization of the receptor expressed
            from cDNA
  JOURNAL   DNA Cell Biol. 11 (6), 471-480 (1992)
  MEDLINE   92398778
   PUBMED   1326278
REFERENCE   3  (bases 1 to 848)
  AUTHORS   Lin,D., Chang,Y.J., Strauss,J.F. III and Miller,W.L.
  TITLE     The human peripheral benzodiazepine receptor gene: cloning and
            characterization of alternative splicing in normal tissues and in a
            patient with congenital lipoid adrenal hyperplasia
  JOURNAL   Genomics 18 (3), 643-650 (1993)
  MEDLINE   94140364
   PUBMED   8307574
REFERENCE   4  (bases 1 to 848)
  AUTHORS   Yakovlev,A.G., Ruffo,M., Jurka,J. and Krueger,K.E.
  TITLE     Comparison of repetitive elements in the third intron of human and
            rodent mitochondrial benzodiazepine receptor-encoding genes
  JOURNAL   Gene 155 (2), 201-205 (1995)
  MEDLINE   95237610
   PUBMED   7721091
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M36035.1, L21951.1 and
            U12421.1.
            On Jun 21, 2002 this sequence version replaced gi:6382068.
            Summary: Present mainly in the mitochondrial compartment of
            peripheral tissues, PBR interacts with some benzodiazepines and has
            different affinities than its endogenous counterpart. PBR appears
            to be a key factor in the flow of cholesterol into mitochondria to
            permit the initiation of steroid hormone synthesis.  It is
            speculated that patients with congenital lipoid adrenal
            hyperplasia, who cannot make any steroids, might have a genetic
            lesion in BZRP.  A short form, PBR-S is also expressed in the same
            tissues, but at a level about ten times that of PBR.
            Transcript Variant: This splice variant, PBR, includes all four
            exons of the BZRP gene.
FEATURES             Location/Qualifiers
     source          1..848
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.31"
     gene            1..848
                     /gene="BZRP"
                     /note="MBR; PBR"
                     /db_xref="LocusID:706"
                     /db_xref="MIM:109610"
     CDS             88..597
                     /gene="BZRP"
                     /note="Benzodiazepine receptor, peripheral type
                     (benzodiazepine peripheral binding site); benzodiazepine
                     receptor (peripheral); PBR-S"
                     /codon_start=1
                     /product="peripheral benzodiazapine receptor"
                     /protein_id="NP_000705.1"
                     /db_xref="GI:4502481"
                     /db_xref="LocusID:706"
                     /db_xref="MIM:109610"
                     /translation="MAPPWVPAMGFTLAPSLGCFVGSRFVHGEGLRWYAGLQKPSWHP
                     PHWVLGPVWGTLYSAMGYGSYLVWKELGGFTEKAVVPLGLYTGQLALNWAWPPIFFGA
                     RQMGWALVDLLLVSGAAAATTVAWYQVSPLAARLLYPYLAWLAFATTLNYCVWRDNHG
                     WHGGRRLPE"
     misc_feature    100..555
                     /gene="BZRP"
                     /note="Region: pfam03073, TspO_MBR, TspO/MBR family.
                     Tryptophan-rich sensory protein (TspO) is an integral
                     membrane protein that acts as a negative regulator of the
                     expression of specific photosynthesis genes in response to
                     oxygen/light. It is involved in the efflux of porphyrin
                     intermediates from the cell. This reduces the activity of
                     coproporphyrinogen III oxidase, which is thought to lead
                     to the accumulation of a putative repressor molecule that
                     inhibits the expression of specific photosynthesis genes.
                     Several conserved aromatic residues are necessary for TspO
                     function: they are thought to be involved in binding
                     porphyrin intermediates. In, the rat mitochondrial
                     peripheral benzodiazepine receptor (MBR) was shown to not
                     only retain its structure within a bacterial outer
                     membrane, but also to be able to functionally substitute
                     for TspO in TspO- mutants, and to act in a similar manner
                     to TspO in its in situ location: the outer mitochondrial
                     membrane. The biological significance of MBR remains
                     unclear, however. It is thought to be involved in a
                     variety of cellular functions, including cholesterol
                     transport in steroidogenic tissues"
     variation       complement(526)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:6971"
     variation       572
                     /gene="BZRP"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:6972"
     variation       737
                     /gene="BZRP"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:6973"
     polyA_signal    826..831
                     /gene="BZRP"
BASE COUNT      124 a    281 c    268 g    175 t
ORIGIN      
        1 agcggcctgg ctaactcctg ccaggcagtg cccttcccgg agcgtgccct cgccgctgag
       61 ctcccctgaa cagcagctgc agcagccatg gccccgccct gggtgcccgc catgggcttc
      121 acgctggcgc ccagcctggg gtgcttcgtg ggctcccgct ttgtccacgg cgagggtctc
      181 cgctggtacg ccggcctgca gaagccctcg tggcacccgc cccactgggt gctgggccct
      241 gtctggggca cgctctactc agccatgggg tacggctcct acctggtctg gaaagagctg
      301 ggaggcttca cagagaaggc tgtggttccc ctgggcctct acactgggca gctggccctg
      361 aactgggcat ggccccccat cttctttggt gcccgacaaa tgggctgggc cttggtggat
      421 ctcctgctgg tcagtggggc ggcggcagcc actaccgtgg cctggtacca ggtgagcccg
      481 ctggccgccc gcctgctcta cccctacctg gcctggctgg ccttcgcgac cacactcaac
      541 tactgcgtat ggcgggacaa ccatggctgg catgggggac ggcggctgcc agagtgagtg
      601 cccggcccac cagggactgc agctgcacca gcaggtgcca tcacgcttgt gatgtggtgg
      661 ccgtcacgct ttcatgacca ctgggcctgc tagtctgtca gggccttggc ccaggggtca
      721 gcagagcttc agaggttgcc ccacctgagc ccccacccgg gagcagtgtc ctgtgctttc
      781 tgcatgctta gagcatgttc ttggaacatg gaattttata agctgaataa agtttttgac
      841 ttccttta
//



Revised: July 5, 2002.
 
 


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NCBI | NLM | NIH 

 

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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_000391. Homo sapiens cero...[gi:5597012] Links  


LOCUS       CLN2                    3502 bp    mRNA    linear   PRI 23-JUL-2002
DEFINITION  Homo sapiens ceroid-lipofuscinosis, neuronal 2, late infantile
            (Jansky-Bielschowsky disease) (CLN2), mRNA.
ACCESSION   NM_000391
VERSION     NM_000391.2  GI:5597012
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3502)
  AUTHORS   Sleat,D.E., Donnelly,R.J., Lackland,H., Liu,C.G., Sohar,I.,
            Pullarkat,R.K. and Lobel,P.
  TITLE     Association of mutations in a lysosomal protein with classical
            late-infantile neuronal ceroid lipofuscinosis
  JOURNAL   Science 277 (5333), 1802-1805 (1997)
  MEDLINE   97442529
   PUBMED   9295267
REFERENCE   2  (bases 1 to 3502)
  AUTHORS   Liu,C.G., Sleat,D.E., Donnelly,R.J. and Lobel,P.
  TITLE     Structural organization and sequence of CLN2, the defective gene in
            classical late infantile neuronal ceroid lipofuscinosis
  JOURNAL   Genomics 50 (2), 206-212 (1998)
  MEDLINE   98317534
   PUBMED   9653647
REFERENCE   3  (bases 1 to 3502)
  AUTHORS   Rawlings,N.D. and Barrett,A.J.
  TITLE     Tripeptidyl-peptidase I is apparently the CLN2 protein absent in
            classical late-infantile neuronal ceroid lipofuscinosis
  JOURNAL   Biochim. Biophys. Acta 1429 (2), 496-500 (1999)
  MEDLINE   99143780
   PUBMED   9989235
REFERENCE   4  (bases 1 to 3502)
  AUTHORS   Vines,D.J. and Warburton,M.J.
  TITLE     Classical late infantile neuronal ceroid lipofuscinosis fibroblasts
            are deficient in lysosomal tripeptidyl peptidase I
  JOURNAL   FEBS Lett. 443 (2), 131-135 (1999)
  MEDLINE   99142696
   PUBMED   9989590
REFERENCE   5  (bases 1 to 3502)
  AUTHORS   Lin,L. and Lobel,P.
  TITLE     Expression and analysis of CLN2 variants in CHO cells: Q100R
            represents a polymorphism, and G389E and R447H represent
            loss-of-function mutations
  JOURNAL   Hum. Mutat. 18 (2), 165 (2001)
  MEDLINE   21354493
   PUBMED   11462245
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF039704.1.
            On Jul 27, 1999 this sequence version replaced gi:4502886.
FEATURES             Location/Qualifiers
     source          1..3502
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15"
                     /tissue_type="placenta"
                     /clone_lib="Clontech genomic library, Cat number HL1067j"
     gene            1..3502
                     /gene="CLN2"
                     /note="TPP1; TPP I; TPP-I"
                     /db_xref="LocusID:1200"
                     /db_xref="MIM:204500"
     CDS             30..1721
                     /gene="CLN2"
                     /note="deficient in late-infantile neuronal ceroid
                     lipofuscinosis"
                     /codon_start=1
                     /product="ceroid-lipofuscinosis, neuronal 2, late
                     infantile (Jansky-Bielschowsky disease)"
                     /protein_id="NP_000382.3"
                     /db_xref="GI:5729770"
                     /db_xref="LocusID:1200"
                     /db_xref="MIM:204500"
                     /translation="MGLQACLLGLFALILSGKCSYSPEPDQRRTLPPGWVSLGRADPE
                     EELSLTFALRQQNVERLSELVQAVSDPSSPQYGKYLTLENVADLVRPSPLTLHTVQKW
                     LLAAGAQKCHSVITQDFLTCWLSIRQAELLLPGAEFHHYVGGPTETHVVRSPHPYQLP
                     QALAPHVDFVGGLHRFPPTSSLRQRPEPQVTGTVGLHLGVTPSVIRKRYNLTSQDVGS
                     GTSNNSQACAQFLEQYFHDSDLAQFMRLFGGNFAHQASVARVVGQQGRGRAGIEASLD
                     VQYLMSAGANISTWVYSSPGRHEGQEPFLQWLMLLSNESALPHVHTVSYGDDEDSLSS
                     AYIQRVNTELMKAAARGLTLLFASGDSGAGCWSVSGRHQFRPTFPASSPYVTTVGGTS
                     FQEPFLITNEIVDYISGGGFSNVFPRPSYQEEAVTKFLSSSPHLPPSSYFNASGRAYP
                     DVAALSDGYWVVSNRVPIPWVSGTSASTPVFGGILSLINEHRILSGRPPLGFLNPRLY
                     QQHGAGLFDVTRGCHESCLDEEVEGQGFCSGPGWDPVTGWGTPNFPALLKTLLNP"
     variation       328
                     /gene="CLN2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1800746"
     variation       1571
                     /gene="CLN2"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3185304"
     variation       1571
                     /gene="CLN2"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1128396"
     variation       1861
                     /gene="CLN2"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:2555171"
     variation       2749
                     /gene="CLN2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1802018"
     variation       2839
                     /gene="CLN2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1045450"
     variation       2902
                     /gene="CLN2"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1802020"
     variation       2973
                     /gene="CLN2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1802017"
     variation       3309
                     /gene="CLN2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:7487"
     variation       3349
                     /gene="CLN2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:7488"
     variation       3408
                     /gene="CLN2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3185635"
     variation       3443
                     /gene="CLN2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1802019"
BASE COUNT      792 a   1028 c    739 g    943 t
ORIGIN      
        1 acatgacagc agatccgcgg aagggcagaa tgggactcca agcctgcctc ctagggctct
       61 ttgccctcat cctctctggc aaatgcagtt acagcccgga gcccgaccag cggaggacgc
      121 tgcccccagg ctgggtgtcc ctgggccgtg cggaccctga ggaagagctg agtctcacct
      181 ttgccctgag acagcagaat gtggaaagac tctcggagct ggtgcaggct gtgtcggatc
      241 ccagctctcc tcaatacgga aaatacctga ccctagagaa tgtggctgat ctggtgaggc
      301 catccccact gaccctccac acggtgcaaa aatggctctt ggcagccgga gcccagaagt
      361 gccattctgt gatcacacag gactttctga cttgctggct gagcatccga caagcagagc
      421 tgctgctccc tggggctgag tttcatcact atgtgggagg acctacggaa acccatgttg
      481 taaggtcccc acatccctac cagcttccac aggccttggc cccccatgtg gactttgtgg
      541 ggggactgca ccgttttccc ccaacatcat ccctgaggca acgtcctgag ccgcaggtga
      601 cagggactgt aggcctgcat ctgggggtaa ccccctctgt gatccgtaag cgatacaact
      661 tgacctcaca agacgtgggc tctggcacca gcaataacag ccaagcctgt gcccagttcc
      721 tggagcagta tttccatgac tcagacctgg ctcagttcat gcgcctcttc ggtggcaact
      781 ttgcacatca ggcatcagta gcccgtgtgg ttggacaaca gggccggggc cgggccggga
      841 ttgaggccag tctagatgtg cagtacctga tgagtgctgg tgccaacatc tccacctggg
      901 tctacagtag ccctggccgg catgagggac aggagccctt cctgcagtgg ctcatgctgc
      961 tcagtaatga gtcagccctg ccacatgtgc atactgtgag ctatggagat gatgaggact
     1021 ccctcagcag cgcctacatc cagcgggtca acactgagct catgaaggct gccgctcggg
     1081 gtctcaccct gctcttcgcc tcaggtgaca gtggggccgg gtgttggtct gtctctggaa
     1141 gacaccagtt ccgccctacc ttccctgcct ccagccccta tgtcaccaca gtgggaggca
     1201 catccttcca ggaacctttc ctcatcacaa atgaaattgt tgactatatc agtggtggtg
     1261 gcttcagcaa tgtgttccca cggccttcat accaggagga agctgtaacg aagttcctga
     1321 gctctagccc ccacctgcca ccatccagtt acttcaatgc cagtggccgt gcctacccag
     1381 atgtggctgc actttctgat ggctactggg tggtcagcaa cagagtgccc attccatggg
     1441 tgtccggaac ctcggcctct actccagtgt ttggggggat cctatccttg atcaatgagc
     1501 acaggatcct tagtggccgc ccccctcttg gctttctcaa cccaaggctc taccagcagc
     1561 atggggcagg actctttgat gtaacccgtg gctgccatga gtcctgtctg gatgaagagg
     1621 tagagggcca gggtttctgc tctggtcctg gctgggatcc tgtaacaggc tggggaacac
     1681 ccaacttccc agctttgctg aagactctac tcaacccctg accctttcct atcaggagag
     1741 atggcttgtc ccctgccctg aagctggcag ttcagtccct tattctgccc tgttggaagc
     1801 cctgctgaac cctcaactat tgactgctgc agacagctta tctccctaac cctgaaatgc
     1861 ggtgagcttg acttgactcc caaccctacc atgctccatc atactcaggt ctccctactc
     1921 ctgccttaga ttcctcaata agatgctgta actagcattt tttgaatgcc tctccctccg
     1981 catctcatct ttctcttttc aatcaggctt ttccaaaggg ttgtatacag actctgtgca
     2041 ctatttcact tgatattcat tccccaattc actgcaagga gacctctact gtcaccgttt
     2101 actctttcct accctgacat ccagaaacaa tggcctccag tgcatacttc tcaatctttg
     2161 ctttatggcc tttccatcat agttgcccac tccctctcct tacttagctt ccaggtctta
     2221 acttctctga ctactcttgt cttcctctct catcaatttc tgcttcttca tggaatgctg
     2281 accttcattg ctccatttgt agatttttgc tcttctcagt ttactcattg tcccctggaa
     2341 caaatcactg acatctacaa ccattaccat ctcactaaat aagactttct atccaataat
     2401 gattgatacc tcaaatgtaa gatgcgtgat actcaacatt tcatcgtcca ccttcccaac
     2461 cccaaacaat tccatctcgt ttcttcttgg taaatgatgc tatgcttttt ccaaccaagc
     2521 cagaaacctg tgtcatcttt tcaccccacc ttcaatcaac aagtcctcaa tcaacaagtc
     2581 ctactgactg cacatcttaa atatatcttt atcagtccac aagtccttcc aattatattt
     2641 cccaagtata tctagaactt atccacttat atccccactg ctactacctt agtttagggc
     2701 tatattctct tgaaaaaaag tgtccttact tcctgccaat ccccaagtca tcttccagag
     2761 taaaatgcaa atcccatcag gccacttgga tgaaaaccct tcaaggatta ctggatagaa
     2821 ttcaggcttt cccctccagc ccccaatcat agctcacaaa ccttccttgc tatttgttct
     2881 taagtaaaaa atcatttttc ctcctccctc cccaaacccc aaggaactct cactcttgct
     2941 caagctgttc cgtcccctta ccacccctga tacaactgcc aggttaattt ccagaattct
     3001 tgcaagactc agttcagaag tcaccttctt tcgtgaatgt tttgattccc tgaggctact
     3061 ttattttggt atggctgaaa aatcctagat tttctaaaca aaacctgttt gaatcttggt
     3121 tctgatatgg actaggagag agactgggtc aagtaagctt atctccctga ggctgtttcc
     3181 tcgtctgtta agtgtgaata tcaatacctg cctttcataa tcaccaggga ataaagtgga
     3241 ataatgttga taacagtgct tggcacctgg aagtaggtgg cagatgttaa cgcccttcct
     3301 cccttgcact gcgccccctg tgcctacctc tagcattgta acgaccacat agtattgaaa
     3361 tggccagttt acttgtctgc cttcctttcc aagaccgttg gtgcctagag gactagaatc
     3421 gtgtcctatt taactttgtg ttcccaggtc ctagctcagg agttggcaaa taagaattaa
     3481 atgtctgcta caccgaaaca aa
//



Revised: July 5, 2002.
 
 


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1: NM_015292. Homo sapiens like...[gi:14149679] Links  


LOCUS       MBC2                    4190 bp    mRNA    linear   PRI 08-OCT-2002
DEFINITION  Homo sapiens likely ortholog of mouse membrane bound C2 domain
            containing protein (MBC2), mRNA.
ACCESSION   NM_015292
VERSION     NM_015292.1  GI:14149679
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4190)
  AUTHORS   Nagase,T., Ishikawa,K., Suyama,M., Kikuno,R., Miyajima,N.,
            Tanaka,A., Kotani,H., Nomura,N. and Ohara,O.
  TITLE     Prediction of the coding sequences of unidentified human genes. XI.
            The complete sequences of 100 new cDNA clones from brain which code
            for large proteins in vitro
  JOURNAL   DNA Res. 5 (5), 277-286 (1998)
  MEDLINE   99087487
   PUBMED   9872452
REFERENCE   2  (bases 1 to 4190)
  AUTHORS   Morris,N.J., Ross,S.A., Neveu,J.M., Lane,W.S. and Lienhard,G.E.
  TITLE     Cloning and preliminary characterization of a 121 kDa protein with
            multiple predicted C2 domains
  JOURNAL   Biochim. Biophys. Acta 1431 (2), 525-530 (1999)
  MEDLINE   99280327
   PUBMED   10350628
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC004998.1.
FEATURES             Location/Qualifiers
     source          1..4190
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q12"
                     /clone="MGC:4422 IMAGE:2958094"
                     /tissue_type="Kidney, renal cell adenocarcinoma"
                     /clone_lib="NIH_MGC_14"
                     /lab_host="DH10B-R"
                     /note="Vector: pOTB7"
     gene            1..4190
                     /gene="MBC2"
                     /note="KIAA0747"
                     /db_xref="LocusID:23344"
     CDS             51..3365
                     /gene="MBC2"
                     /codon_start=1
                     /product="KIAA0747 protein"
                     /protein_id="NP_056107.1"
                     /db_xref="GI:14149680"
                     /db_xref="LocusID:23344"
                     /translation="MERSPGEGPSPSPMDQPSAPSDPTDQPPAAHAKPDPGSGGQPAG
                     PGAAGEALAVLTSFGRRLLVLIPVYLAGAVGLSVGFVLFGLALYLGWRRVRDEKERSL
                     RAARQLLDDEEQLTAKTLYMSHRELPAWVSFPDVEKAEWLNKIVAQVWPFLGQYMEKL
                     LAETVAPAVRGSNPHLQTFTFTRVELGEKPLRIIGVKVHPGQRKEQILLDLNISYVGD
                     VQIDVEVKKYFCKAGVKGMQLHGVLRVILEPLIGDLPFVGAVSMFFIRRPTLDINWTG
                     MTNLLDIPGLSSLSDTMIMDSIAAFLVLPNRLLVPLVPDLQDVAQLRSPLPRGIIRIH
                     LLAARGLSSKDKYVKGLIEGKSDPYALVRLGTQTFCSRVIDEELNPQWGETYEVMVHE
                     VPGQEIEVEVFDKDPDKDDFLGRMKLDVGKVLQASVLDDWFPLQGGQGQVHLRLEWLS
                     LLSDAEKLEQVLQWNWGVSSRPDPPSAAILVVYLDRAQDLPLKKGNKEPNPMVQLSIQ
                     DVTQESKAVYSTNCPVWEEAFRFFLQDPQSQELDVQVKDDSRALTLGALTLPLARLLT
                     APELILDQWFQLSSSGPNSRLYMKLVMRILYLDSSEICFPTVPGCPGAWDVDSENPQR
                     GSSVDAPPRPCHTTPDSQFGTEHVLRIHVLEAQDLIAKDRFLGGLVKGKSDPYVKLKL
                     AGRSFRSHVVREDLNPRWNEVFEVIVTSVPGQELEVEVFDKDLDKDDFLGRCKVRLTT
                     VLNSGFLDEWLTLEDVPSGRLHLRLERLTPRPTAAELEEVLQVNSLIQTQKSAELAAA
                     LLSIYMERAEDLPLRKGTKHLSPYATLTVGDSSHKTKTISQTSAPVWDESASFLIRKP
                     HTESLELQVRGEGTGVLGSLSLPLSELLVADQLCLDRWFTLSSGQGQVLLRAQLGILV
                     SQHSGVEAHSHSYSHSSSSLSEEPELSGGPPHITSSAPELRQRLTHVDSPLEAPAGPL
                     GQVKLTLWYYSEERKLVSIVHGCRSLRQNGRDPPDPYVSLLLLPDKNRGTKRRTSQKK
                     RTLSPEFNERFEWELPLDEAQRRKLDVSVKSNSSFMSRERELLGKVQLDLAETDLSQG
                     VARWYDLMDNKDKGSS"
     misc_feature    1038..1346
                     /gene="MBC2"
                     /note="C2; Region: Protein kinase C conserved region 2
                     (CalB)"
                     /db_xref="CDD:smart00239"
     misc_feature    1041..1301
                     /gene="MBC2"
                     /note="C2; Region: C2 domain"
                     /db_xref="CDD:pfam00168"
     misc_feature    1485..1694
                     /gene="MBC2"
                     /note="C2; Region: Protein kinase C conserved region 2
                     (CalB)"
                     /db_xref="CDD:smart00239"
     misc_feature    1488..1694
                     /gene="MBC2"
                     /note="C2; Region: C2 domain"
                     /db_xref="CDD:pfam00168"
     misc_feature    1992..2300
                     /gene="MBC2"
                     /note="C2; Region: Protein kinase C conserved region 2
                     (CalB)"
                     /db_xref="CDD:smart00239"
     misc_feature    1995..2198
                     /gene="MBC2"
                     /note="C2; Region: C2 domain"
                     /db_xref="CDD:pfam00168"
     misc_feature    2445..2645
                     /gene="MBC2"
                     /note="C2; Region: Protein kinase C conserved region 2
                     (CalB)"
                     /db_xref="CDD:smart00239"
     misc_feature    2448..2645
                     /gene="MBC2"
                     /note="C2; Region: C2 domain"
                     /db_xref="CDD:pfam00168"
     misc_feature    3015..3326
                     /gene="MBC2"
                     /note="C2; Region: Protein kinase C conserved region 2
                     (CalB)"
                     /db_xref="CDD:smart00239"
     misc_feature    3024..3281
                     /gene="MBC2"
                     /note="C2; Region: C2 domain"
                     /db_xref="CDD:pfam00168"
     variation       4059
                     /gene="MBC2"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:14483"
BASE COUNT      933 a   1136 c   1154 g    967 t
ORIGIN      
        1 caacctccag ccagtccctg ggtcgggcgg atcctcccag aggtggcaca atggagcgat
       61 ctccaggaga gggccccagc cccagcccca tggaccagcc ctctgctccc tccgacccca
      121 ctgaccagcc ccccgctgct cacgcaaagc cagacccagg ttctgggggc caacctgctg
      181 gccctggcgc ggcgggtgag gccctggcgg tgctgacttc attcgggagg cggttgctgg
      241 tgctgatacc tgtgtatttg gccggggcag tgggactcag cgtgggtttc gtgctcttcg
      301 gcctcgccct ctacctgggc tggcgccggg tccgcgacga gaaagaacgg agccttcgag
      361 cagcgaggca gctactggac gacgaggagc agctcactgc gaaaactctc tatatgagtc
      421 atcgagagct acctgcctgg gtcagcttcc cagacgtgga aaaggctgaa tggctcaata
      481 agattgtggc ccaggtctgg cccttcctgg gccagtatat ggagaagctt ctggctgaaa
      541 ctgtggctcc ggctgttagg ggatctaacc cccatctgca aacatttaca tttacacgag
      601 tggaactggg tgaaaagcca ttgcgcatca ttggagtcaa ggttcaccca ggtcagagaa
      661 aagagcagat cctgctggac ttgaacatca gctatgtagg tgatgtgcag attgatgtgg
      721 aagtgaagaa atatttttgc aaagcaggag tcaagggcat gcagctacat ggcgttttgc
      781 gggtgatact ggagccactc attggggacc ttcccttcgt gggggctgtg tcaatgttct
      841 tcatccgacg cccgacccta gacatcaact ggacagggat gaccaacctg ctggatatcc
      901 caggacttag ctcactctct gacaccatga tcatggactc cattgctgcc ttcctcgtgt
      961 tgcccaaccg attactggtg ccccttgtgc ctgaccttca agatgtggct cagttgcgtt
     1021 cccctctgcc caggggcatt attcgaattc acctgctggc tgctcgaggg ctgagttcca
     1081 aggacaaata tgtgaagggc ctgattgagg gcaagtcaga cccatatgca cttgtgcgtt
     1141 tgggtaccca gacattctgc agtcgtgtca ttgatgaaga actcaaccca cagtggggag
     1201 agacttatga ggtgatggta cacgaggtcc cagggcagga gattgaagtg gaggtgttcg
     1261 acaaggatcc agataaagat gactttctgg gcagaatgaa gctggatgta gggaaggtgt
     1321 tacaggctag cgttctggat gattggttcc ctctacaagg tgggcaaggc caagttcact
     1381 tgaggctaga atggctgtca cttttgtcag atgcagagaa actggagcag gttctacagt
     1441 ggaattgggg agtctcctct cgaccagatc ccccgtcagc tgccatctta gttgtctacc
     1501 tggatcgggc ccaggatctt cctctgaaga aggggaacaa ggaacccaac cctatggtac
     1561 aactgtcaat tcaggatgtg actcaggaga gcaaggctgt ctacagtacc aactgcccag
     1621 tgtgggagga agcgttccgg ttcttcctac aagaccctca aagccaggag ctcgatgtgc
     1681 aagtgaagga tgattccagg gccctgactt taggagcact gacgctgcct ctggcccgcc
     1741 tgctgactgc cccagaactc atcctggacc agtggttcca gctcagcagc tctggtccaa
     1801 actccagact ctatatgaaa ctagtcatga ggatcctgta cttggattca tcagaaatat
     1861 gcttccccac ggtgcctggt tgtcctggtg cttgggacgt ggacagtgag aatccccaga
     1921 gaggcagcag tgtggatgcc ccacctcgac cctgtcacac gactcctgat agccagtttg
     1981 ggactgagca tgtgcttcgg atccatgtat tagaggccca ggacctgatt gccaaagacc
     2041 gtttcttggg gggactggtg aagggcaagt cagaccccta tgtcaaacta aagttggcag
     2101 gacgaagctt ccggagccat gttgttcggg aagatctcaa tccccgctgg aatgaggttt
     2161 ttgaggtgat cgtcacatca gttccaggcc aagagctaga ggttgaagtc tttgacaagg
     2221 acttggacaa ggatgatttt ctgggcaggt gtaaagtgcg tctcaccaca gtcttaaaca
     2281 gtggcttcct tgatgagtgg ctgaccctgg aggatgtccc atctggccgc ctgcacttgc
     2341 gcctggagcg tctcaccccc cgtcccactg ctgctgagtt agaggaggtg ctgcaggtga
     2401 atagtttgat ccagactcag aagagtgcgg agctggctgc ggccctgcta tccatctata
     2461 tggagcgggc agaggacctc ccgctgcgaa aaggcaccaa gcacctcagc ccttatgcta
     2521 ctctcactgt gggagatagt tctcataaaa ccaagactat ttcgcaaact tcagcccctg
     2581 tctgggatga gagtgcctcc tttctcatca ggaaaccaca cactgagagc ctagagttgc
     2641 aggttcgggg tgagggcact ggcgtgctgg gctcattatc cctgcccctc tcagagctcc
     2701 tcgtggctga ccagctctgc ttggaccgct ggtttacact cagcagtggt caggggcagg
     2761 tgctactgag agcacagcta gggatcctgg tgtcccagca ctcgggagtg gaagctcata
     2821 gccacagcta cagccacagc tcctcatcgc tgagtgaaga accagagctc tcggggggac
     2881 cccctcacat cacctcctca gccccagagc tccggcagcg cctaacacat gttgacagtc
     2941 cccttgaggc tccagccggg cctctgggcc aggtgaaact gactctgtgg tactacagtg
     3001 aagaacgaaa gctggtcagc attgttcatg gttgccggtc ccttcgacag aatggacgtg
     3061 atcctcctga tccctatgtg tcactgttgc tactgccaga caagaaccga ggcaccaaga
     3121 ggaggacctc acagaagaag aggaccctga gtcctgaatt taatgaacgg tttgagtggg
     3181 aactccccct ggatgaggcc cagagacgaa agctggatgt ctctgtcaag tctaattcct
     3241 ccttcatgtc aagagagcgt gagctgctgg ggaaggtgca gctggaccta gctgagacag
     3301 acctttccca gggtgtagcc cggtggtatg acctgatgga caacaaggac aagggcagct
     3361 cctaggagct ggcgagtccc agcctgactg ctctgtcttc ctgccttcgt ctcgctccat
     3421 caccgcctca atgtgatgag cctaaagcta gggtccaagg gcagagcctg tgcccttcag
     3481 ccctttcacc taacaggccc atattcgggc ctttgcctga ccaaagagaa gaaccgtatg
     3541 ttccctttac tgcacggcct ttatccttct gggcccctgg ggcggggacc tgagctggct
     3601 gtttcctgct ttgcctgcac attgttctcc cttcctccca actcctcagg gccttctgta
     3661 tctgtgcctg gccagtggca gcactagcag tggtattagc ttatgccaaa tacagctttg
     3721 gaaggatctt tttttcttta actagatggt caccttcttc cctaccacac atgggtggga
     3781 aggtggacag gctaacctct ccagctgtga gcctcttaga ctactgcatg tagcaaatgt
     3841 tcagcagctc aggcccccat gtccagttct gtccccactg tcctcaaccc tgtcctgaaa
     3901 attctactgc tttgatggct ggggccagtc tcttgtcact ttggaaactg aggacgcgtg
     3961 gattctactc aagcctccaa gtagtggcat atcagtcttg gagctcctag ctggtgatac
     4021 ggagagggct ttggaggact tgggacagca gggccaattt ttttgcccaa gtgcctaggc
     4081 tgctaactca ctgactagaa cttaatctgg tactttacag ttttgcacca actctgccaa
     4141 gccactggat cttacattaa acatcatact caaaaaaaaa aaaaaaaaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

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&&&&&&&


    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_000270. Homo sapiens nucl...[gi:4557800] Links  


LOCUS       NP                      1418 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens nucleoside phosphorylase (NP), mRNA.
ACCESSION   NM_000270
VERSION     NM_000270.1  GI:4557800
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1418)
  AUTHORS   Williams,S.R., Goddard,J.M. and Martin,D.W. Jr.
  TITLE     Human purine nucleoside phosphorylase cDNA sequence and genomic
            clone characterization
  JOURNAL   Nucleic Acids Res. 12 (14), 5779-5787 (1984)
  MEDLINE   84272252
   PUBMED   6087295
REFERENCE   2  (bases 1 to 1418)
  AUTHORS   Williams,S.R., Gekeler,V., McIvor,R.S. and Martin,D.W. Jr.
  TITLE     A human purine nucleoside phosphorylase deficiency caused by a
            single base change
  JOURNAL   J. Biol. Chem. 262 (5), 2332-2338 (1987)
  MEDLINE   87137463
   PUBMED   3029074
REFERENCE   3  (bases 1 to 1418)
  AUTHORS   Markert,M.L.
  TITLE     Purine nucleoside phosphorylase deficiency
  JOURNAL   Immunodefic Rev 3 (1), 45-81 (1991)
  MEDLINE   92030090
   PUBMED   1931007
REFERENCE   4  (bases 1 to 1418)
  AUTHORS   Andrews,L.G. and Markert,M.L.
  TITLE     Exon skipping in purine nucleoside phosphorylase mRNA processing
            leading to severe immunodeficiency
  JOURNAL   J. Biol. Chem. 267 (11), 7834-7838 (1992)
  MEDLINE   92218449
   PUBMED   1560016
REFERENCE   5  (bases 1 to 1418)
  AUTHORS   Erion,M.D., Takabayashi,K., Smith,H.B., Kessi,J., Wagner,S.,
            Honger,S., Shames,S.L. and Ealick,S.E.
  TITLE     Purine nucleoside phosphorylase. 1. Structure-function studies
  JOURNAL   Biochemistry 36 (39), 11725-11734 (1997)
  MEDLINE   97452591
   PUBMED   9305962
REFERENCE   6  (bases 1 to 1418)
  AUTHORS   Erion,M.D., Stoeckler,J.D., Guida,W.C., Walter,R.L. and Ealick,S.E.
  TITLE     Purine nucleoside phosphorylase. 2. Catalytic mechanism
  JOURNAL   Biochemistry 36 (39), 11735-11748 (1997)
  MEDLINE   97452592
   PUBMED   9305963
REFERENCE   7  (bases 1 to 1418)
  AUTHORS   Stoeckler,J.D., Poirot,A.F., Smith,R.M., Parks,R.E. Jr.,
            Ealick,S.E., Takabayashi,K. and Erion,M.D.
  TITLE     Purine nucleoside phosphorylase. 3. Reversal of purine base
            specificity by site-directed mutagenesis
  JOURNAL   Biochemistry 36 (39), 11749-11756 (1997)
  MEDLINE   97452593
   PUBMED   9305964
REFERENCE   8  (bases 1 to 1418)
  AUTHORS   Sheppard,T.L., Ordoukhanian,P. and Joyce,G.F.
  TITLE     A DNA enzyme with N-glycosylase activity
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 97 (14), 7802-7807 (2000)
  MEDLINE   20345067
   PUBMED   10884411
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X00737.1.
            Summary: NP encodes the enzyme purine nucleoside phosphorylase that
            together with adenosine deaminase (ADA) serves a key role in purine
            catabolism, referred to as the salvage pathway. Mutations in either
            enzyme result in a severe combined immunodeficiency (SCID).
FEATURES             Location/Qualifiers
     source          1..1418
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q13.1"
     gene            1..1418
                     /gene="NP"
                     /note="PNP"
                     /db_xref="LocusID:4860"
                     /db_xref="MIM:164050"
     CDS             110..979
                     /gene="NP"
                     /EC_number="2.4.2.1"
                     /codon_start=1
                     /product="purine nucleoside phosphorylase"
                     /protein_id="NP_000261.1"
                     /db_xref="GI:4557801"
                     /db_xref="LocusID:4860"
                     /db_xref="MIM:164050"
                     /translation="MENGYTYEDYKNTAEWLLSHTKHRPQVAIICGSGLGGLTDKLTQ
                     AQIFDYSEIPNFPRSTVPGHAGRLVFGFLNGRACVMMQGRFHMYEGYPLWKVTFPVRV
                     FHLLGVDTLVVTNAAGGLNPKFEVGDIMLIRDHINLPGFSGQNPLRGPNDERFGDRFP
                     AMSDAYDRTMRQRALSTWKQMGEQRELQEGTYVMVAGPSFETVAECRVLQKLGADAVG
                     MSTVPEVIVARHCGLRVFGFSLITNKVIMDYESLEKANHEEVLAAGKQAAQKLEQFVS
                     ILMASIPLPDKAS"
     misc_feature    179..961
                     /gene="NP"
                     /note="Region: pfam00896, Mtap_PNP, Phosphorylase family
                     2"
     variation       complement(169)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1049562"
     variation       280
                     /gene="NP"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3189745"
     variation       1233
                     /gene="NP"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:7785"
     variation       1373
                     /gene="NP"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1049700"
BASE COUNT      352 a    358 c    362 g    346 t
ORIGIN      
        1 aactgtgcga accagacccg gcagccttgc tcagttcagc atagcggagc ggatccgatc
       61 ggatcggagc acaccggagc aggctcatcg agaaggcgtc tgcgagacca tggagaacgg
      121 atacacctat gaagattata agaacactgc agaatggctt ctgtctcata ctaagcaccg
      181 acctcaagtt gcaataatct gtggttctgg attaggaggt ctgactgata aattaactca
      241 ggcccagatc tttgactaca gtgaaatccc caactttcct cgaagtacag tgccaggtca
      301 tgctggccga ctggtgtttg ggttcctgaa tggcagggcc tgtgtgatga tgcagggcag
      361 gttccacatg tatgaagggt acccactctg gaaggtgaca ttcccagtga gggttttcca
      421 ccttctgggt gtggacaccc tggtagtcac caatgcagca ggagggctga accccaagtt
      481 tgaggttgga gatatcatgc tgatccgtga ccatatcaac ctacctggtt tcagtggtca
      541 gaaccctctc agagggccca atgatgaaag gtttggagat cgtttccctg ccatgtctga
      601 tgcctacgac cggactatga ggcagagggc tctcagtacc tggaaacaaa tgggggagca
      661 acgtgagcta caggaaggca cctatgtgat ggtggcaggc cccagctttg agactgtggc
      721 agaatgtcgt gtgctgcaga agctgggagc agacgctgtt ggcatgagta cagtaccaga
      781 agttatcgtt gcacggcact gtggacttcg agtctttggc ttctcactca tcactaacaa
      841 ggtcatcatg gattatgaaa gcctggagaa ggccaaccat gaagaagtct tagcagctgg
      901 caaacaagct gcacagaaat tggaacagtt tgtctccatt cttatggcca gcattccact
      961 ccctgacaaa gccagttgac ctgccttgga gtcgtctggc atctcccaca caagacccaa
     1021 gtagctgcta ccttctttgg ccccttgctg gagtcatgtg cctctgtcct taggttgtag
     1081 cagaaaggaa aagattcctg tccttcacct ttcccacttt cttctaccag acccttctgg
     1141 tgccagatcc tcttctcaaa gctgggatta caggtgtgag catagtgaga ccttggcgct
     1201 acaaaataaa gctgttctca ttcctgttct ttcttacaca agagctggag cccgtgccct
     1261 accacacatc tgtggagatg cccaggattt gactcgggcc ttagaacttt gcatagcagc
     1321 tgctactagc tctttgagat aatacattcc gaggggctca gttctgcctt atctaaatca
     1381 ccagagacca aacaaggact aatccaatac ctcttgga
//



Revised: July 5, 2002.
 
 


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1: NM_002163. Homo sapiens inte...[gi:4504566] Links  


LOCUS       ICSBP1                  1538 bp    mRNA    linear   PRI 10-FEB-2002
DEFINITION  Homo sapiens interferon consensus sequence binding protein 1
            (ICSBP1), mRNA.
ACCESSION   NM_002163
VERSION     NM_002163.1  GI:4504566
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1538)
  AUTHORS   Weisz,A., Marx,P., Sharf,R., Appella,E., Driggers,P.H., Ozato,K.
            and Levi,B.Z.
  TITLE     Human interferon consensus sequence binding protein is a negative
            regulator of enhancer elements common to interferon-inducible genes
  JOURNAL   J. Biol. Chem. 267 (35), 25589-25596 (1992)
  MEDLINE   93094284
   PUBMED   1460054
REFERENCE   2  (bases 1 to 1538)
  AUTHORS   Holtschke,T., Lohler,J., Kanno,Y., Fehr,T., Giese,N.,
            Rosenbauer,F., Lou,J., Knobeloch,K.P., Gabriele,L., Waring,J.F.,
            Bachmann,M.F., Zinkernagel,R.M., Morse,H.C. III, Ozato,K. and
            Horak,I.
  TITLE     Immunodeficiency and chronic myelogenous leukemia-like syndrome in
            mice with a targeted mutation of the ICSBP gene
  JOURNAL   Cell 87 (2), 307-317 (1996)
  MEDLINE   97015086
   PUBMED   8861914
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M91196.1.
            Summary: Interferon consensus sequence-binding protein (ICSBP) is a
            transcription factor of the interferon (IFN) regulatory factor
            (IRF) family. Proteins of this family are composed of a conserved
            DNA-binding domain in the N-terminal region and a divergent
            C-terminal region that serves as the regulatory domain.  The IRF
            family proteins bind to the IFN-stimulated response element (ISRE)
            and regulate expression of genes stimulated by type I IFNs, namely
            IFN-alpha and IFN-beta.  IRF family proteins also control
            expression of IFN-alpha and IFN-beta-regulated genes that are
            induced by viral infection.
FEATURES             Location/Qualifiers
     source          1..1538
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.1"
     gene            1..1538
                     /gene="ICSBP1"
                     /db_xref="LocusID:3394"
                     /db_xref="MIM:601565"
     CDS             48..1328
                     /gene="ICSBP1"
                     /function="involved in the transcription regulation of
                     interferon-inducible genes"
                     /note="H-ICSBP"
                     /codon_start=1
                     /product="interferon consensus sequence binding protein 1"
                     /protein_id="NP_002154.1"
                     /db_xref="GI:4504567"
                     /db_xref="LocusID:3394"
                     /db_xref="MIM:601565"
                     /translation="MCDRNGGRRLRQWLIEQIDSSMYPGLIWENEEKSMFRIPWKHAG
                     KQDYNQEVDASIFKAWAVFKGKFKEGDKAEPATWKTRLRCALNKSPDFEEVTDRSQLD
                     ISEPYKVYRIVPEEEQKCKLGVATAGCVNEVTEMECGRSEIDELIKEPSVDDYMGMIK
                     RSPSPPEACRSQLLPDWWAQQPSTGVPLVTGYTTYDAHHSAFSQMVISFYYGGKLVGQ
                     ATTTCPEGCRLSLSQPGLPGTKLYGPEGLELVRFPPADAIPSERQRQVTRKLFGHLER
                     GVLLHSSRQGVFVKRLCQGRVFCSGNAVVCKGRPNKLERDEVVQVFDTSQFFRELQQF
                     YNSQGRLPDGRVVLCFGEEFPDMAPLRSKLILVQIEQLYVRQLAEEAGKSCGAGSVMQ
                     APEEPPPDQVFRMFPDICASHQRSFFRENQQITV"
     misc_feature    54..389
                     /gene="ICSBP1"
                     /note="IRF; Region: Interferon regulatory factor
                     transcription factor"
                     /db_xref="CDD:pfam00605"
     misc_feature    60..389
                     /gene="ICSBP1"
                     /note="IRF; Region: interferon regulatory factor"
                     /db_xref="CDD:smart00348"
     variation       1241
                     /gene="ICSBP1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2270503"
BASE COUNT      333 a    402 c    495 g    308 t
ORIGIN      
        1 atggatgggg gaaccgggcg gcgagacggc ggcaggacgg cggcaggatg tgtgaccgga
       61 atggtggtcg gcggcttcga cagtggctga tcgagcagat tgacagtagc atgtatccag
      121 gactgatttg ggagaatgag gagaagagca tgttccggat cccttggaaa cacgctggca
      181 agcaagatta taatcaggaa gtggatgcct ccatttttaa ggcctgggca gtttttaaag
      241 ggaagtttaa agaaggggac aaagctgaac cagccacttg gaagacgagg ttacgctgtg
      301 ctttgaataa gagcccagat tttgaggaag tgacggaccg gtcccaactg gacatttccg
      361 agccatacaa agtttaccga attgttcctg aggaagagca aaaatgcaaa ctaggcgtgg
      421 caactgctgg ctgcgtgaat gaagttacag agatggagtg cggtcgctct gaaatcgacg
      481 agctgatcaa ggagccttct gtggacgatt acatggggat gatcaaaagg agcccttccc
      541 cgccggaggc ctgtcggagt cagctccttc cagactggtg ggcgcagcag cccagcacag
      601 gcgtgccgct ggtgacgggg tacaccacct acgacgcgca ccattcagca ttctcccaga
      661 tggtgatcag cttctactat gggggcaagc tggtgggcca ggccaccacc acctgccccg
      721 agggctgccg cctgtccctg agccagcctg ggctgcccgg caccaagctg tatgggcccg
      781 agggcctgga gctggtgcgc ttcccgccgg ccgacgccat ccccagcgag cgacagaggc
      841 aggtgacgcg gaagctgttc gggcacctgg agcgcggggt gctgctgcac agcagccggc
      901 agggcgtgtt cgtcaagcgg ctgtgccagg gccgcgtgtt ctgcagcggc aacgccgtgg
      961 tgtgcaaagg caggcccaac aagctggagc gtgatgaggt ggtccaggtc ttcgacacca
     1021 gccagttctt ccgagagctg cagcagttct ataacagcca gggccggctt cctgacggca
     1081 gggtggtgct gtgctttggg gaagagtttc cggatatggc ccccttgcgc tccaaactca
     1141 ttctcgtgca gattgagcag ctgtatgtcc ggcaactggc agaagaggct gggaagagct
     1201 gtggagccgg ctctgtgatg caggcccccg aggagccgcc gccagaccag gtcttccgga
     1261 tgtttccaga tatttgtgcc tcacaccaga gatcattttt cagagaaaac caacagatca
     1321 ccgtctaagt gcgtcgcttg ggcgccccac cccgtctgcg tcctgcatcc atctccctgt
     1381 tacagtggcc cgcatcatga ttaaagaatg tggatccctc tgtctggggt gggatgcctt
     1441 actttgcact taatttaata agggcattct cggaggagta gacgtttaat acgaagtggc
     1501 gcatagccct gccgagatgt cggtgatggc ctgatgcg
//



Revised: July 5, 2002.
 
 


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1: NM_001478. Homo sapiens UDP-...[gi:4809289] Links  


LOCUS       GALGT                   2885 bp    mRNA    linear   PRI 03-FEB-2001
DEFINITION  Homo sapiens
            UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-
            galactosylglucosylceramide N-acetylgalactosaminyltransferase
            (GalNAc-T) (GALGT), mRNA.
ACCESSION   NM_001478
VERSION     NM_001478.2  GI:4809289
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2885)
  AUTHORS   Nagata,Y., Yamashiro,S., Yodoi,J., Lloyd,K.O., Shiku,H. and
            Furukawa,K.
  TITLE     Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase
            cDNAs that determine the expression of GM2 and GD2 gangliosides
  JOURNAL   J. Biol. Chem. 267 (17), 12082-12089 (1992)
  MEDLINE   92291088
   PUBMED   1601877
REFERENCE   2  (bases 1 to 2885)
  AUTHORS   Nagata,Y., Yamashiro,S., Yodoi,J., Lloyd,K.O., Shiku,H. and
            Furukawa,K.
  TITLE     Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase
            cDNAs that determine the expression of GM2 and GD2 gangliosides
  JOURNAL   J. Biol. Chem. 269 (9), 7045 (1994)
  MEDLINE   94165113
   PUBMED   8120069
REFERENCE   3  (bases 1 to 2885)
  AUTHORS   Furukawa,K., Soejima,H., Niikawa,N. and Shiku,H.
  TITLE     Genomic organization and chromosomal assignment of the human beta1,
            4-N-acetylgalactosaminyltransferase gene. Identification of
            multiple transcription units
  JOURNAL   J. Biol. Chem. 271 (34), 20836-20844 (1996)
  MEDLINE   96355429
   PUBMED   8702839
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M83651.1 and L76079.1.
            On May 13, 1999 this sequence version replaced gi:4503892.
            Summary: GM2 and GD2 gangliosides are sialic acid-containing
            glycosphingolipids. GalNAc-T is the enzyme involved in the
            biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T
            catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4
            linkage, resulting in the synthesis of G(M2) and G(D2),
            respectively.
            Transcript Variant: This entry contains mRNA sequence for
            alternative untranslated exon 1a which overlaps with that of
            alternative untranslated exon 1b. An alternative untranslated exon
            1c that does not overlap with this sequence has also been
            described.
            COMPLETENESS: complete on the 5' end.
FEATURES             Location/Qualifiers
     source          1..2885
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.3"
     gene            1..2885
                     /gene="GALGT"
                     /note="GALNACT"
                     /db_xref="LocusID:2583"
                     /db_xref="MIM:601873"
     misc_feature    259..433
                     /gene="GALGT"
                     /note="alternative first exon 1b"
                     /citation=[3]
                     /evidence=experimental
     CDS             434..2035
                     /gene="GALGT"
                     /EC_number="2.4.1.92"
                     /note="beta-1,4 N-acetylgalactosaminyltransferase;
                     G(M2)/G(D2) synthase;
                     UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-;
                     beta1,4GalNAc-T; GalNAc-T"
                     /codon_start=1
                     /product="UDP-N-acetyl-alpha-D-galactosamine:(N-
                     acetylneuraminyl)-galactosylglucosylceramide
                     N-acetylgalactosaminyltransferase"
                     /protein_id="NP_001469.1"
                     /db_xref="GI:4503893"
                     /db_xref="LocusID:2583"
                     /db_xref="MIM:601873"
                     /translation="MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQ
                     SPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNCSCESSGGGLPLPFQKQVRAIDL
                     TKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSI
                     LVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNR
                     QLQLVTYSSRSYQTNTADTVRFSTEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNIS
                     ALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERVSGPYVEHYLMPFGK
                     GWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLERTPLDLVGGAVREISGF
                     ATTYRQLLSVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGVVNFFLARTDKVREVG
                     FDPRLSRVAHLEFFLDGLGSLRVGSCSDVVVDHASKLKLPWTSRDAGAETYARYRYPG
                     SLDESQMAKHRLLFFKHRLQCMTSQ"
     misc_feature    455..508
                     /gene="GALGT"
                     /note="signal-anchor; transmembrane-region site"
     misc_feature    1271..1750
                     /gene="GALGT"
                     /note="Glycos_transf_2; Region: Glycosyl transferases"
                     /db_xref="CDD:pfam00535"
     misc_feature    434..454
                     /gene="GALGT"
                     /note="cytoplasmic domain"
     misc_feature    509..2032
                     /gene="GALGT"
                     /note="catalytic domain; lumenal"
     variation       complement(2426)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3741418"
     variation       2630
                     /gene="GALGT"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1064308"
BASE COUNT      556 a    952 c    828 g    549 t
ORIGIN      
        1 gcattccccc gcgcggagcc gaagcagccg caacgagccg ggagctgagc cgcgctgcgc
       61 tgcggtgcga agagccgggc ggcggccaga gccctccccg cgctgccagt gggacgcgga
      121 gccagggatc cccggctttg ccccggggct ggggtgcaac agactcttaa cttggtcctc
      181 gcgccccgcc aaccgccccc gggcaggaaa cggccagaac caccaccgcg ccgcgctcca
      241 caaaagcccc gggagttcca agacgggagg gatcgggcgc gctccagagg caggagggtc
      301 ccccacaccc tcaggctcat gcccagctcc cccatcggac agcccccagc cccatgagga
      361 ccctcaggcc cggggcgaga gcccggcaca gcccggaccg aaattttgcc gctgccttag
      421 agcgttagac aggatgtggc tgggccgccg ggccctgtgc gctctggtcc ttctgctcgc
      481 ctgcgcctcg ctggggctcc tgtacgcgag cacccgggac gcgcccggcc tccggctacc
      541 tcttgcgccg tgggcgcccc cgcaaagccc ccgcaggccc gagctgccag atcttgctcc
      601 tgagccccgc tacgcacaca tcccggtcag gatcaaggag caagtagtgg ggctgctggc
      661 ttggaacaac tgcagttgtg agtccagtgg ggggggcctc cccctcccct tccagaaaca
      721 agtccgagct attgacctca ccaaggcctt tgaccctgca gagctgaggg ctgcctctgc
      781 cacaagagag caggagttcc aggcctttct gtcgaggagc cagtccccag ctgaccagct
      841 gctcatagcc cctgccaact ccccgctcca gtacccccta cagggtgtgg aagttcagcc
      901 cctcaggagc atcttggtgc cagggctgag ccttcaggca gcttctggtc aggaggtata
      961 ccaggtgaac ctgactgcct ccctaggcac ctgggacgtg gcaggggaag tgactggagt
     1021 tactctcact ggagagggtc aggcagatct cacccttgtc agcccagggc tggaccaact
     1081 caacaggcaa ctacaactgg tcacttacag cagccgaagc taccagacca acacagcaga
     1141 cacagtccgg ttctccaccg agggacatga ggctgctttc actatccgca taagacaccc
     1201 gcccaaccct cggctgtacc cacctgggtc tctaccccag ggagcccagt acaacatcag
     1261 cgctctagtc acgattgcca ccaagacctt cctccgttat gatcggctac gggctctcat
     1321 caccagtatc cgccgcttct acccaacggt taccgtggtc atcgctgacg acagcgacaa
     1381 gccagagcgc gttagtggcc cctacgtgga acactatctc atgcccttcg gcaagggctg
     1441 gttcgcaggc cggaacctgg ccgtgtctca agtaaccacc aagtacgtgc tgtgggtgga
     1501 cgacgacttc gtcttcacgg cgcggacgcg gctggagagg cttgtggacg tgctggagcg
     1561 gacgccgctg gacctggtgg ggggcgcggt gcgcgagatc tccggctttg ccaccactta
     1621 tcggcagctg ctgagcgtgg agcccggcgc cccaggcctc gggaactgcc tccggcaaag
     1681 gcgcggcttc caccacgagc tcgtcggctt cccaggctgc gtggtcaccg acggcgtggt
     1741 taacttcttc ctggcgcgga ctgacaaggt gcgcgaggtc ggtttcgacc cccgcctcag
     1801 ccgcgtggct catctggaat tcttcttgga tgggcttggt tcccttcggg ttggctcctg
     1861 ctccgacgtc gtggtggatc atgcatccaa actgaagctg ccttggacat caagggatgc
     1921 cggagcagag acttacgccc ggtaccgtta cccaggatca ctggacgaga gccagatggc
     1981 caaacaccgg ctgctcttct tcaaacaccg gctgcagtgc atgacctccc agtgatggcc
     2041 cgctggggat ttctgactgt caggctgggc ctgcctcctt gtccctgcca ggaatttcca
     2101 acaaacccca ccaccctgtg agcactctac tggctgtccc tgagcctcta gttcctcact
     2161 cttccttttc agaacctgat gcccagtagg ggttgtcctg gtgacacccc tcctttttcc
     2221 agtgcccaga ggcctggtgg agccataacc tctcccacag ccagtgccaa gtcctccccc
     2281 tgcccattct catggggcag gaaatggggg gatcactttc caagtgccaa agagcccaga
     2341 gggactctaa gaacctaagg tggaaacact gtcctctcat cttgggaccg agggggtggg
     2401 gaagttcccc aacacataat cccaagactg tgcccctcat ctgcatcttc agatccagta
     2461 ctctgtgtac ctgctccagc cccaccccca cagagagaac ttgtggctct ggggctgggg
     2521 tgagggctgg tggttggtga aagccattct tagttgtgtc tctgcaatgc tgtgggcaca
     2581 aaagaagggg caccagagtc cctgtgcaaa cacctagact cacttcatgg attccaaagc
     2641 tctcagcttc attttattag ttacgttagg taagggggtt caagggtcat ggtcctcatc
     2701 acacacatgt catcagggcc ctcctgcact ccacatgatg aggtcagacc cacacggtgc
     2761 aaatctttgg gtcagtgagc tcctggagaa gagaggagac atgtcaggaa tagattaggc
     2821 acccctcttc cttaatgaaa tgtggcagtc ctctcagggg taccccacct acttagggat
     2881 ctgag
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_004125. Homo sapiens guan...[gi:21361096] Links  


LOCUS       GNG10                   1470 bp    mRNA    linear   PRI 10-JUN-2002
DEFINITION  Homo sapiens guanine nucleotide binding protein 10 (GNG10), mRNA.
ACCESSION   NM_004125
VERSION     NM_004125.2  GI:21361096
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1470)
  AUTHORS   Strausberg,R.
  TITLE     Homo sapiens guanine nucleotide binding protein 10 (GNG10), mRNA
  JOURNAL   Unpublished (2001)
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC015391.1.
            On Jun 10, 2002 this sequence version replaced gi:4758445.
FEATURES             Location/Qualifiers
     source          1..1470
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q32"
                     /clone="MGC:21698 IMAGE:4425229"
                     /tissue_type="Kidney, hypernephroma"
                     /clone_lib="NIH_MGC_89"
                     /lab_host="DH10B"
                     /note="Vector: pCMV-SPORT6"
     gene            1..1470
                     /gene="GNG10"
                     /db_xref="LocusID:2790"
                     /db_xref="MIM:604389"
     CDS             23..484
                     /gene="GNG10"
                     /codon_start=1
                     /product="guanine nucleotide binding protein 10"
                     /protein_id="NP_004116.2"
                     /db_xref="GI:21361097"
                     /db_xref="LocusID:2790"
                     /db_xref="MIM:604389"
                     /translation="MGAPLLSPGWGAGAAGRRWWMLLAPLLPALLLVRPAGALVEGLY
                     CGTRDCYEVLGVSRSAGKAEIARAYRQLARRYHPDRYRPQPGDEGPGRTPQSAEEAFL
                     LVATAYETLKVSQAAAELQQYCMQNACKDALLVGVPAGSNPFREPRSCALL"
     misc_feature    164..358
                     /gene="GNG10"
                     /note="DnaJ; Region: DnaJ molecular chaperone homology
                     domain"
                     /db_xref="CDD:smart00271"
     misc_feature    167..391
                     /gene="GNG10"
                     /note="DnaJ; Region: DnaJ domain"
                     /db_xref="CDD:pfam00226"
     misc_feature    347..481
                     /gene="GNG10"
                     /note="GGL; Region: G protein gamma subunit-like motifs"
                     /db_xref="CDD:smart00224"
     misc_feature    347..460
                     /gene="GNG10"
                     /note="G-gamma; Region: GGL domain"
                     /db_xref="CDD:pfam00631"
     variation       864
                     /gene="GNG10"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3174648"
     variation       864
                     /gene="GNG10"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:8740"
     variation       960
                     /gene="GNG10"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1802835"
BASE COUNT      407 a    301 c    344 g    418 t
ORIGIN      
        1 agagccgcca gcgaggctgg ggatgggggc gccgctgctc tctcccggct ggggagccgg
       61 ggctgccggc cggcgctggt ggatgctgct ggcgcccctg ctgccggcgc tgctgctggt
      121 gcggcccgcg ggggccctgg tggaggggct ctactgcggc acgcgggact gctacgaggt
      181 gctgggcgtg agccgctcgg cgggcaaggc ggagatcgcg cgggcctacc gccagctggc
      241 ccggcgctac caccctgacc gctaccggcc ccagcccgga gacgagggcc ccgggcggac
      301 gccgcagagc gccgaggagg ctttcctgct ggtggcaacc gcctacgaga cactcaaggt
      361 ctctcaggca gctgcagagc ttcaacagta ctgtatgcag aatgcctgca aggatgccct
      421 gctggtgggt gttccagctg gaagtaaccc cttccgggag cctagatcct gtgctttact
      481 ctgaagactc gagagaagtt tgctgaggaa tgccttcaag cacaaagtga tgaatgactg
      541 ccttcaagtc tcaagaaaac acttttccct aacttttaga gatatttcag ccctttcctg
      601 tggcctggtc ctatagccaa aatcacagat attcatgagt ttctacttga gtgagaaaac
      661 tgggtgaagg aatagaattt taaatagtaa taactgcttg ttttttttgt gcaagtactt
      721 ttatacataa gataaacaaa aaccttacca ccaaacatac caaaatgcac ctctttcata
      781 agtgagttac taagatttct atacctggaa tatcatgtat gtttcattta ctggatgttt
      841 acattttagg aaggaaaata gttttgttta tttaaacaac tgaatactta taaactgttg
      901 ttcctggaag ttatttattc cataaaaaat ttgttctttt gtcatgaatt tataattcct
      961 aaatgaagac cagaaagtac aaattgctgg gaggaagaat aggctttatt aatcaactga
     1021 tgtcttgatt tttctaaatg ggaagattgc tttattttta acactaatta tgggagcaga
     1081 ttcttagcaa acttctttgg aaaagttaat gttatgatgt gcattaggct gccccatcgt
     1141 gtatataaat gaagcagatt tgatttttgt attcttacgt ttctctgctt tgtagttgtg
     1201 gctgtactta aagaaataca gaatttcata tatttaaaaa tgtttaaaat gtgacccaca
     1261 gaacattgta aatgattaaa aactaacatg aaaatattac aacctaaaag aattcttaac
     1321 ttcacaagtg ttttacttcg acgatgtgcc tttgatttaa tttgggacac ttttttagaa
     1381 ggatacatta ttcgtgtttg caacggtctt tgaagagctt ggaaataaaa tttctgctta
     1441 attaatcaaa aaaaaaaaaa aaaaaaaaaa
//



Revised: July 5, 2002.
 
 


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1: NM_016128. Homo sapiens coat...[gi:21359909] Links  


LOCUS       COPG                    3075 bp    mRNA    linear   PRI 09-OCT-2002
DEFINITION  Homo sapiens coatomer protein complex, subunit gamma (COPG), mRNA.
ACCESSION   NM_016128
VERSION     NM_016128.2  GI:21359909
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3075)
  AUTHORS   Hahn,Y., Lee,Y.J., Yun,J.H., Yang,S.K., Park,C.W., Mita,K.,
            Huh,T.L., Rhee,M. and Chung,J.H.
  TITLE     Duplication of genes encoding non-clathrin coat protein gamma-COP
            in vertebrate, insect and plant evolution
  JOURNAL   FEBS Lett. 482 (1-2), 31-36 (2000)
  MEDLINE   20472554
   PUBMED   11018518
REFERENCE   2  (bases 1 to 3075)
  AUTHORS   Futatsumori,M., Kasai,K., Takatsu,H., Shin,H.W. and Nakayama,K.
  TITLE     Identification and characterization of novel isoforms of COP I
            subunits
  JOURNAL   J. Biochem. 128 (5), 793-801 (2000)
  MEDLINE   20512057
   PUBMED   11056392
REFERENCE   3  (bases 1 to 3075)
  AUTHORS   Bermak,J.C., Li,M., Bullock,C., Weingarten,P. and Zhou,Q.Y.
  TITLE     Interaction of gamma-COP with a transport motif in the D1 receptor
            C-terminus
  JOURNAL   Eur. J. Cell Biol. 81 (2), 77-85 (2002)
  MEDLINE   21889771
   PUBMED   11893085
REFERENCE   4  (bases 1 to 3075)
  AUTHORS   Peng,Y., Song,H., Dai,M., Huang,Q., Mao,Y., Zhang,Q., Mao,M.,
            Fu,G., Luo,M., Chen,J. and Hu,R.
  TITLE     Human coat protein gamma-cop gene
  JOURNAL   Unpublished
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF100756.1.
            On Jun 9, 2002 this sequence version replaced gi:11559928.
FEATURES             Location/Qualifiers
     source          1..3075
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3"
                     /tissue_type="pituitary"
     gene            1..3075
                     /gene="COPG"
                     /note="COPG1"
                     /db_xref="LocusID:22820"
     CDS             76..2700
                     /gene="COPG"
                     /note="coat protein gamma-cop"
                     /codon_start=1
                     /product="coatomer protein complex, subunit gamma 1"
                     /protein_id="NP_057212.1"
                     /db_xref="GI:11559929"
                     /db_xref="LocusID:22820"
                     /translation="MLKKFDKKDEESGGGSNPFQHLEKSAVLQEARVFNETPINPRKC
                     AHILTKILYLINQGEHLGTTEATEAFFAMTKLFQSNDPTLRRMCYLTIKEMSCIAEDV
                     IIVTSSLTKDMTGKEDNYRGPAVRALCQITDSTMLQAIERYMKQAIVDKVPSVSSSAL
                     VSSLHLLKCSFDVVKRWVNEAQEAASSDNIMVQYHALGLLYHVRKNDRLAVNKMISKV
                     TRHGLKSPFAYCMMIRVASKQLEEEDGSRDSPLFDFIESCLRNKHEMVVYEAASAIVN
                     LPGCSAKELAPAVSVLQLFCSSPKAALRYAAVRTLNKVAMKHPSAVTACNLDLENLVT
                     DSNRSIATLAITTLLKTGSESSIDRLMKQISSFMSEISDEFKVVVVQAISALCQKYPR
                     KHAVLMNFLFTMLREEGGFEYKRAIVDCIISIIEENSESKETGLSHLCEFIEDCEFTV
                     LATRILHLLGQEGPKTTNPSKYIRFIYNRVVLEHEEVRAGAVSALAKFGAQNEEMLPS
                     ILVLLKRCVMDDDNEVRDRATFYLNVLEQKQKALNAGYILNGLTVSIPGLERALQQYT
                     LEPSEKPFDLKSVPLATAPMAEQRTESTPITAVKQPEKVAATRQEIFQEQLAAVPEFR
                     GLGPLFKSSPEPVALTESETEYVIRCTKHTFTNHMVFQFDCTNTLNDQTLENVTVQME
                     PTEAYEVLCYVPARSLPYNQPGTCYTLVALPKEDPTAVACTFSCMMKFTVKDCDPTTG
                     ETDDEGYEDEYVLEDLEVTVADHIQKVMKLNFEAAWDEVGDEFEKEETFTLSTIKTLE
                     EAVGNIVKFLGMHPCERSDKVPDNKNTHTLLLAGVFRGGHDILVRSRLLLLDTVTMQV
                     TARSLEELPVDIILASVG"
     misc_feature    142..1686
                     /gene="COPG"
                     /note="Adaptin_N; Region: Adaptin N terminal region. This
                     family consists of the N terminal region of various alpha,
                     beta and gamma subunits of the AP-1, AP-2 and AP-3 adaptor
                     protein complexes. The adaptor protein (AP) complexes are
                     involved in the formation of clathrin-coated pits and
                     vesicles. The N-terminal region of the various adaptor
                     proteins (APs) is constant by comparison to the C-terminal
                     which is variable within members of the AP-2 family"
                     /db_xref="CDD:pfam01602"
     variation       complement(2113)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:15546"
     variation       complement(2117)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:15648"
     variation       2840
                     /gene="COPG"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1132458"
     variation       2840
                     /gene="COPG"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3193271"
     variation       2870
                     /gene="COPG"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3193290"
     variation       2870
                     /gene="COPG"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1132463"
BASE COUNT      779 a    833 c    781 g    682 t
ORIGIN      
        1 ggcactgtag caccgctact ccgtgccgcg cccgtcgagc attgcgttgc tgcattgcgc
       61 cccaccgact ccactatgtt gaagaaattc gacaagaagg atgaggagtc aggtggaggc
      121 tccaacccat tccagcacct tgagaagagt gcggtactcc aggaggcccg tgtatttaat
      181 gaaactccca tcaaccctcg gaaatgtgcc cacatcctca ccaagattct ttatctcata
      241 aaccaggggg agcacctggg gaccacggaa gcgaccgagg ccttctttgc catgaccaag
      301 ctctttcagt ccaatgaccc cacactccgt cggatgtgct acttgaccat caaggagatg
      361 tcttgcattg cagaggatgt catcattgtc accagcagcc taacaaaaga catgactggg
      421 aaagaagaca actaccgggg cccggccgtg cgagccctct gccagatcac tgatagcacc
      481 atgctgcagg ctattgagcg ctacatgaaa caagccattg tggacaaggt gcccagtgtc
      541 tccagctctg ccctcgtgtc ttccttgcac ctgctgaagt gcagctttga cgtggtcaag
      601 cgctgggtga atgaggctca ggaggcagca tccagtgata acatcatggt ccagtaccac
      661 gcactagggc tcctgtacca tgtgcgtaag aatgaccgcc tagccgtcaa taagatgatc
      721 agcaaggtca cacggcatgg ccttaagtct ccctttgcct actgcatgat gatccgggtg
      781 gccagcaagc agctggaaga ggaggatggc agccgtgaca gcccactgtt tgacttcatc
      841 gagagctgct tgcgcaacaa gcacgagatg gtggtgtatg aagccgcctc ggccattgtc
      901 aacctgcctg ggtgcagcgc caaggagctg gccccagctg tctcagtgct ccagctcttc
      961 tgcagctccc ccaaggccgc cctccgttac gccgccgtcc gcaccctcaa caaggtggcc
     1021 atgaagcacc cgtccgctgt gacagcttgt aatctggatc tggagaacct ggtcacagat
     1081 tcaaaccgca gcattgccac gctggccatc accaccctcc ttaagacggg cagcgagagc
     1141 agcatcgacc gcctcatgaa gcagatctcc tccttcatgt cagaaatctc ggatgaattc
     1201 aaggtggtgg ttgtccaggc catcagtgcc ctgtgtcaga aatatcctcg caaacacgcc
     1261 gtccttatga acttcctgtt caccatgctg cgggaagagg gtggctttga gtataagcgc
     1321 gctatcgtgg actgcatcat cagcatcatt gaagagaact cagagagcaa ggagacaggg
     1381 ctgtcacatc tgtgcgagtt catcgaggac tgcgagttca cagtgctggc cacccgtatt
     1441 ctacatctcc tgggccagga ggggcccaag accaccaatc cctcaaagta catccgcttc
     1501 atctataacc gagtggtctt ggagcatgag gaggtccggg caggtgctgt gagtgctctg
     1561 gcgaagtttg gagcccagaa tgaagagatg ttacccagta tcttggtgtt gctgaagagg
     1621 tgtgtgatgg atgatgacaa tgaagtaagg gaccgagcca ccttctacct aaatgtcctg
     1681 gagcagaagc agaaggccct taatgcaggc tatatcctaa atggtctgac tgtgtccatc
     1741 cctggtctgg agagggctct gcagcagtac actctagaac catcagaaaa accttttgac
     1801 ctcaagtctg tgcccctggc cacggcgccc atggcagagc agagaacaga aagtaccccc
     1861 atcacagcag tcaaacagcc tgagaaagtg gcagctacca ggcaggagat cttccaggag
     1921 cagttggcag cagtgccaga gttccgcggt cttgggcccc tcttcaagtc ctcgcctgag
     1981 cccgtggccc tcaccgagtc agagacggag tatgtcatcc gctgcaccaa acacaccttc
     2041 accaaccaca tggtttttca gtttgactgc acaaacacac tcaatgacca gaccttggag
     2101 aatgtcacag tgcagatgga gcccactgag gcctatgagg tgctctgtta cgtgcctgcc
     2161 cggagcctgc cctacaacca gcccgggacc tgctacacac tggtggcact gcccaaagaa
     2221 gaccccacag ctgtggcctg cacattcagc tgcatgatga agttcactgt caaggactgt
     2281 gatcccacca ctggggagac tgatgacgaa ggctatgagg atgagtatgt gctggaagat
     2341 ctggaagtta ctgtagctga tcacattcaa aaggtcatga aactgaactt cgaagcagcc
     2401 tgggatgagg taggggatga atttgagaag gaggaaacgt tcaccttgtc taccatcaag
     2461 acacttgaag aggctgtggg taatattgtg aagttcttgg gaatgcaccc ttgtgagagg
     2521 tcagacaaag tgccggataa caagaacacc cacacgttgc tcctggctgg tgtgttccgg
     2581 ggtggtcatg acatcctggt gcgctcccgg ctgctgcttt tggacacagt gacaatgcag
     2641 gtgacagcca gaagtttgga ggagctgcca gtagacatca tcttggcatc tgtgggataa
     2701 gaggccagcc tgcataggac ctcataccct tccccaacac tacctggaag ttgtgccttc
     2761 ctcatgaaac tggcagaaac cccttcccaa gcttctgtat tgaaaaacaa ttaggaatca
     2821 ttgcagattt ttttttattc tgctcccacc tcccacccgg gactacttgc tggtgacttt
     2881 tttttttttt ttttttaaat aggggatgat tttagcttgt cctaaatctt gctgtccacc
     2941 cttccaggaa agggacattg taaatgaata aaacattctc aactcctctt gaatctatcc
     3001 cccaagaaac catcttatcc ctgtaataaa tcagcatgta tttattgaaa aaaaaaaaaa
     3061 aaaaaaaaaa aaaaa
//



Revised: July 5, 2002.
 
 


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&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_006120. Homo sapiens majo...[gi:18765714] Links  


LOCUS       HLA-DMA                 1100 bp    mRNA    linear   PRI 19-FEB-2002
DEFINITION  Homo sapiens major histocompatibility complex, class II, DM alpha
            (HLA-DMA), mRNA.
ACCESSION   NM_006120
VERSION     NM_006120.2  GI:18765714
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1100)
  AUTHORS   Kelly,A.P., Monaco,J.J., Cho,S.G. and Trowsdale,J.
  TITLE     A new human HLA class II-related locus, DM
  JOURNAL   Nature 353 (6344), 571-573 (1991)
  MEDLINE   92018223
   PUBMED   1922365
REFERENCE   2  (bases 1 to 1100)
  AUTHORS   Kelly,A., Powis,S.H., Glynne,R., Radley,E., Beck,S. and
            Trowsdale,J.
  TITLE     Second proteasome-related gene in the human MHC class II region
  JOURNAL   Nature 353 (6345), 667-668 (1991)
  MEDLINE   92018253
   PUBMED   1922385
REFERENCE   3  (bases 1 to 1100)
  AUTHORS   Radley,E., Alderton,R.P., Kelly,A., Trowsdale,J. and Beck,S.
  TITLE     Genomic organization of HLA-DMA and HLA-DMB. Comparison of the gene
            organization of all six class II families in the human major
            histocompatibility complex
  JOURNAL   J. Biol. Chem. 269 (29), 18834-18838 (1994)
  MEDLINE   94308138
   PUBMED   8034636
REFERENCE   4  (bases 1 to 1100)
  AUTHORS   Weber,D.A., Evavold,B.D. and Jensen,P.E.
  TITLE     Enhanced dissociation of HLA-DR-bound peptides in the presence of
            HLA-DM
  JOURNAL   Science 274 (5287), 618-620 (1996)
  MEDLINE   97002457
   PUBMED   8849454
REFERENCE   5  (bases 1 to 1100)
  AUTHORS   Kropshofer,H., Hammerling,G.J. and Vogt,A.B.
  TITLE     The impact of the non-classical MHC proteins HLA-DM and HLA-DO on
            loading of MHC class II molecules
  JOURNAL   Immunol. Rev. 172, 267-278 (1999)
  MEDLINE   20097570
   PUBMED   10631952
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X62744.1.
            On Feb 19, 2002 this sequence version replaced gi:5174458.
            Summary: HLA-DMA belongs to the HLA class II alpha chain
            paralogues. This class II molecule is a heterodimer consisting of
            an alpha (DMA) and a beta chain (DMB), both anchored in the
            membrane. It is located in intracellular vesicles. DM plays a
            central role in the peptide loading of MHC class II molecules by
            helping to release the CLIP molecule from the peptide binding site.
            Class II molecules are expressed in antigen presenting cells (APC:
            B lymphocytes, dendritic cells, macrophages). The alpha chain is
            approximately 33-35 kDa and its gene contains 5 exons. Exon one
            encodes the leader peptide, exons 2 and 3 encode the two
            extracellular domains, exon 4 encodes the transmembrane domain and
            the cytoplasmic tail.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1100
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.3"
     gene            1..1100
                     /gene="HLA-DMA"
                     /note="D6S222E; RING6"
                     /allele="DMA*0101"
                     /db_xref="LocusID:3108"
                     /db_xref="MIM:142855"
     CDS             46..831
                     /gene="HLA-DMA"
                     /note="HLA class II alpha chain-like; class II
                     histocompatibility antigen, M alpha chain"
                     /codon_start=1
                     /product="major histocompatibility complex, class II, DM
                     alpha precursor"
                     /protein_id="NP_006111.2"
                     /db_xref="GI:18765715"
                     /db_xref="LocusID:3108"
                     /db_xref="MIM:142855"
                     /db_xref="LocusID:3108"
                     /db_xref="MIM:142855"
                     /translation="MGHEQNQGAALLQMLPLLWLLPHSWAVPEAPTPMWPDDLQNHTF
                     LHTVYCQDGSPSVGLSEAYDEDQLFFFDFSQNTRVPRLPEFADWAQEQGDAPAILFDK
                     EFCEWMIQQIGPKLDGKIPVSRGFPIAEVFTLKPLEFGKPNTLVCFVSNLFPPMLTVN
                     WQHHSVPVEGFGPTFVSAVDGLSFQAFSYLNFTPEPSDIFSCIVTHEIDRYTAIAYWV
                     PRNALPSDLLENVLCGVAFGLGVLGIIVGIVLIIYFRKPCSGD"
     sig_peptide     46..123
                     /gene="HLA-DMA"
     mat_peptide     124..828
                     /gene="HLA-DMA"
                     /product="major histocompatibility complex, class II, DM
                     alpha"
     misc_feature    166..417
                     /gene="HLA-DMA"
                     /note="MHC_II_alpha; Region: Class II histocompatibility
                     antigen, alpha domain"
                     /db_xref="CDD:pfam00993"
     misc_feature    463..657
                     /gene="HLA-DMA"
                     /note="ig; Region: Immunoglobulin domain"
                     /db_xref="CDD:pfam00047"
     misc_feature    469..666
                     /gene="HLA-DMA"
                     /note="IGc1; Region: Immunoglobulin C-Type"
                     /db_xref="CDD:smart00407"
     variation       917
                     /gene="HLA-DMA"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:10679"
     variation       932..934
                     /gene="HLA-DMA"
                     /note="WARNING: map location ambiguous"
                     /allele="-"
                     /allele="AAG"
                     /db_xref="dbSNP:3833947"
     polyA_signal    1062..1067
                     /gene="HLA-DMA"
     polyA_site      1079
                     /gene="HLA-DMA"
BASE COUNT      247 a    305 c    264 g    284 t
ORIGIN      
        1 ctaaagctgg gttggtagct cctacctact gtgtggcaag aaggtatggg tcatgaacag
       61 aaccaaggag ctgcgctgct acagatgtta ccacttctgt ggctgctacc ccactcctgg
      121 gccgtccctg aagctcctac tccaatgtgg ccagatgacc tgcaaaacca cacattcctg
      181 cacacagtgt actgccagga tgggagtccc agtgtgggac tctctgaggc ctacgacgag
      241 gaccagcttt tcttcttcga cttttcccag aacactcggg tgcctcgcct gcccgaattt
      301 gctgactggg ctcaggaaca gggagatgct cctgccattt tatttgacaa agagttctgc
      361 gagtggatga tccagcaaat agggccaaaa cttgatggga aaatcccggt gtccagaggg
      421 tttcctatcg ctgaagtgtt cacgctgaag cccctggagt ttggcaagcc caacactttg
      481 gtctgttttg tcagtaatct cttcccaccc atgctgacag tgaactggca gcatcattcc
      541 gtccctgtgg aaggatttgg gcctactttt gtctcagctg tcgatggact cagcttccag
      601 gccttttctt acttaaactt cacaccagaa ccttctgaca ttttctcctg cattgtgact
      661 cacgaaattg accgctacac agcaattgcc tattgggtac cccggaacgc actgccctca
      721 gatctgctgg agaatgtgct gtgtggcgtg gcctttggcc tgggtgtgct gggcatcatc
      781 gtgggcattg ttctcatcat ctacttccgg aagccttgct caggtgactg attcttccag
      841 accagagttt gatgccagca gcttcggcca tccaaacaga ggatgctcag atttctcaca
      901 tcctgcccag gatctcctct tagggtagaa gaagtctctg ggacatccct ggggtgtgtg
      961 tgtagatttc ccacctgggg actctgctgt ccctgggctt gcatcccagg gatcccagag
     1021 tggcctgcct atcacaacca catcccttcc ccccacaagg caataaatct catttcttta
     1081 aaaaaaaaaa aaaaaaaaaa
//



Revised: July 5, 2002.
 
 


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1: NM_003244. Homo sapiens TGFB...[gi:4507472] Links  


LOCUS       TGIF                    1562 bp    mRNA    linear   PRI 24-JUL-2001
DEFINITION  Homo sapiens TGFB-induced factor (TALE family homeobox) (TGIF),
            mRNA.
ACCESSION   NM_003244
VERSION     NM_003244.1  GI:4507472
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1562)
  AUTHORS   Munke M, Page DC, Brown LG, Armson BA, Zackai EH, Mennuti MT and
            Emanuel BS.
  TITLE     Molecular detection of a Yp/18 translocation in a 45,X
            holoprosencephalic male
  JOURNAL   Hum. Genet. 80 (3), 219-223 (1988)
  MEDLINE   89053303
   PUBMED   3192211
REFERENCE   2  (bases 1 to 1562)
  AUTHORS   Overhauser J, Mitchell HF, Zackai EH, Tick DB, Rojas K and Muenke
            M.
  TITLE     Physical mapping of the holoprosencephaly critical region in
            18p11.3
  JOURNAL   Am. J. Hum. Genet. 57 (5), 1080-1085 (1995)
  MEDLINE   96026102
   PUBMED   7485158
REFERENCE   3  (bases 1 to 1562)
  AUTHORS   Bertolino,E., Reimund,B., Wildt-Perinic,D. and Clerc,R.G.
  TITLE     A novel homeobox protein which recognizes a TGT core and
            functionally interferes with a retinoid-responsive motif
  JOURNAL   J. Biol. Chem. 270 (52), 31178-31188 (1995)
  MEDLINE   96125101
   PUBMED   8537382
REFERENCE   4  (bases 1 to 1562)
  AUTHORS   Gripp KW, Wotton D, Edwards MC, Roessler E, Ades L, Meinecke P,
            Richieri-Costa A, Zackai EH, Massague J, Muenke M and Elledge SJ.
  TITLE     Mutations in TGIF cause holoprosencephaly and link NODAL signalling
            to human neural axis determination
  JOURNAL   Nat. Genet. 25 (2), 205-208 (2000)
  MEDLINE   20296626
   PUBMED   10835638
REFERENCE   5  (bases 1 to 1562)
  AUTHORS   Yang Y, Hwang CK, D'Souza UM, Lee SH, Junn E and Mouradian MM.
  TITLE     Three-amino acid extension loop homeodomain proteins Meis2 and TGIF
            differentially regulate transcription
  JOURNAL   J. Biol. Chem. 275 (27), 20734-20741 (2000)
  MEDLINE   20347166
   PUBMED   10764806
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from X89750.1.
FEATURES             Location/Qualifiers
     source          1..1562
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.3"
                     /tissue_type="liver"
                     /clone_lib="Clontech"
     gene            1..1562
                     /gene="TGIF"
                     /note="HPE4"
                     /db_xref="LocusID:7050"
                     /db_xref="MIM:602630"
     CDS             312..1130
                     /gene="TGIF"
                     /note="TG-interacting factor"
                     /codon_start=1
                     /product="TGFB-induced factor (TALE family homeobox)"
                     /protein_id="NP_003235.1"
                     /db_xref="GI:4507473"
                     /db_xref="LocusID:7050"
                     /db_xref="MIM:602630"
                     /translation="MKGKKGIVAASGSETEDEDSMDIPLDLSSSAGSGKRRRRGNLPK
                     ESVQILRDWLYEHRYNAYPSEQEKALLSQQTHLSTLQVCNWFINARRRLLPDMLRKDG
                     KDPNQFTISRRGAKISETSSVESVMGIKNFMPALEETPFHSCTAGPNPTLGRPLSPKP
                     SSPGSVLARPSVICHTTVTALKDVPFSLCQSVGVGQNTDIQQIAAKNFTDTSLMYPED
                     TCKSGPSTNTQSGLFNTPPPTPPDLNQDFSGFQLLVDVALKRAAEMELQAKLTA"
     misc_feature    432..587
                     /gene="TGIF"
                     /note="HOX; Region: Homeodomain"
                     /db_xref="CDD:smart00389"
     variation       731
                     /gene="TGIF"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2229337"
     variation       731
                     /gene="TGIF"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3750273"
     variation       799
                     /gene="TGIF"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2229333"
     variation       799
                     /gene="TGIF"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3750274"
     variation       800
                     /gene="TGIF"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2229334"
     variation       887
                     /gene="TGIF"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2229335"
     variation       968
                     /gene="TGIF"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:2229336"
     variation       989
                     /gene="TGIF"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:4747"
BASE COUNT      421 a    382 c    371 g    388 t
ORIGIN      
        1 ctggaattcg gggcgccgag caggagcagg gaacaaagga gcggagaggg gaggggagag
       61 agttgggcga gggagagccc ccggccggct gccagaagat cctggcggga ggaagcccaa
      121 gtgtcacttg aattccaccc aaggagcggg cgcctgggat cagagcgtcc tgtttagcaa
      181 taacggctgg agcacgtcct acaagttacg ggagagtcgg ctgtgaagga gacgttcgct
      241 tatcccctgt gtccccgctc ctggcccctc cagacccccg ccttgcctcg cgctgggagg
      301 ggagatccag aatgaaaggc aagaaaggta ttgttgcagc atctggcagt gagactgagg
      361 atgaggacag catggacatt cccttggacc tttcttcatc cgctggctca ggcaagagaa
      421 ggagaagggg caacctaccc aaggagtctg tgcagattct tcgggattgg ctgtatgagc
      481 accgttacaa tgcctatcct tcagagcaag aaaaagcgtt gctgtcccag caaacacacc
      541 tgtctacgct acaggtctgt aactggttca tcaacgcccg ccgcaggctc ctccctgaca
      601 tgctgagaaa ggatggcaaa gatccaaatc agttcacaat ttcccgccgt ggggccaaga
      661 tttctgaaac gagctctgtg gagtccgtga tgggcatcaa aaacttcatg ccagctctag
      721 aggagacccc atttcattcc tgtacagctg ggccaaaccc aaccctaggg aggccactgt
      781 ctcctaagcc gtcatccccg ggatcagttt tggctcgtcc atcagtgatc tgccatacca
      841 ctgtgactgc attgaaagat gtccctttct ctctctgcca gtcggtcggt gtgggacaaa
      901 acacagatat acagcagata gcggccaaaa acttcacaga cacctctctc atgtacccag
      961 aggacacttg taaatctgga ccaagtacga atacacagag tggtcttttc aacactcctc
     1021 cccctactcc accggacctc aaccaggact tcagtggatt tcagcttcta gtggatgttg
     1081 cactcaaacg ggctgcagag atggagcttc aggcaaaact tacagcttaa cccattttca
     1141 agcaaaacag ttctcagaaa tgtcatgatt gccggggtga aggcaagaga tgaattgcat
     1201 tattttatat attttttatt aatatttgca catgggattg ctaaaacagc ttcctgttac
     1261 tgagatgtct tcaatggaat acagtcattc caagaactat aaacttaaag ctactgtaga
     1321 aacaaagggt tttctttttt aaatgtttct tggtagatta ttcataatgt gagatggttc
     1381 ccaatatcat gtgatttttt tttttcctcc ccttcccttt ttttgttatt ttttcagact
     1441 gtgcaatact tagagaacct atagcatctt ctcattccca tgtggaacag gatgcccaca
     1501 tactgtctaa ttaataaatt ttccattttt tttcaaacaa gtaaaaaaaa aaaaaaaaaa
     1561 aa
//



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1: NM_007086. Homo sapiens AND-...[gi:5901891] Links  


LOCUS       AND-1                   4050 bp    mRNA    linear   PRI 15-JUL-2001
DEFINITION  Homo sapiens AND-1 protein (AND-1), mRNA.
ACCESSION   NM_007086
VERSION     NM_007086.1  GI:5901891
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4050)
  AUTHORS   Kohler,A., Schmidt-Zachmann,M.S. and Franke,W.W.
  TITLE     AND-1, a natural chimeric DNA-binding protein, combines an HMG-box
            with regulatory WD-repeats
  JOURNAL   J. Cell. Sci. 110 (Pt 9), 1051-1062 (1997)
  MEDLINE   97318764
   PUBMED   9175701
COMMENT     PREDICTED REFSEQ: The mRNA record is supported by experimental
            evidence; however, the coding sequence is predicted. The reference
            sequence was derived from AJ006266.1.
FEATURES             Location/Qualifiers
     source          1..4050
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q22.1"
                     /tissue_type="fetal brain"
                     /tissue_type="colon carcinoma"
                     /clone_lib="Stratagene Human fetal brain lambda Uni-ZAP
                     library"
     gene            1..4050
                     /gene="AND-1"
                     /db_xref="LocusID:11169"
     CDS             40..3429
                     /gene="AND-1"
                     /function="DNA-binding protein"
                     /codon_start=1
                     /evidence=not_experimental
                     /product="AND-1 protein"
                     /protein_id="NP_009017.1"
                     /db_xref="GI:5901892"
                     /db_xref="LocusID:11169"
                     /translation="MPATRKPMRYGHTEGHTEVCFDDSGSFIVTCGSDGDVRIWEDLD
                     DDDPKFINVGEKAYSCALKSGKLVTAVSNNTIQVHTFPEGVPDGILTRFTTNANHVVF
                     NGDGTKIAAGSSDFLVKIVDVMDSSQQKTFRGHDAPVLSLSFDPKDIFLASASCDGSV
                     RVWQISDQTCAISWPLLQKCNDVINAKSICRLAWQPKSGKLLAIPVEKSVKLYRRESW
                     SHQFDLSDNFISQTLNIVTWSPCGQYLAAGSINGLIIVWNVETKDCMERVKHEKGYAI
                     CGLAWHPTCGRISYTDAEGNLGLLENVCDPSGKTSSSKVSSRVEKDYNDLFDGDDMSN
                     AGDFLNDNAVEIPSFSKGIINDDEDDEDLMMASGRPRQRSHILEDDENSVDISMLKTG
                     SSLLKEEEEDGQEGSIHNLPLVTSQRPFYDGPMPTPRQKPFQSGSTPLHLTHRFMVWN
                     SIGIIRCYNDEQDNAIDVEFHDTSIHHATHLSNTLNYTIADLSHEAILLACESTDELA
                     SKLHCLHFSSWDSSKEWIIDLPQNEDIEAICLGQGWAAAATSALLLRLFTIGGVQKEV
                     FSLAGPVVSMAGHGEQLFIVYHRGTGFDGDQCLGVQLLELGKKKKQILHGDPLPLTRK
                     SYLAWIGFSAEGTPCYVDSEGIVRMLNRGLGNTWTPICNTREHCKGKSDHYWVVGIHE
                     NPQQLRCIPCKGSRFPPTLPRPAVAILSFKLPYCQIATEKGQMEEQFWRSVIFHNHLD
                     YLAKNGYEYEESTKNQATKEQQELLMKMLALSCKLEREFRCVELADLMTQNAVNLAIK
                     YASRSRKLILAQKLSELAVEKAAELTATQVEEEEEEEDFRKKLNAGYSNTATEWSQPR
                     FRNQVEEDAEDSGEADDEEKPEIHKPGQNSFSKSTNSSDVSAKSGAVTFSSQGRVNPF
                     KVSASSKEPAMSMNSARSTNILDNMGKSSKKSTALSRTTNNEKSPIIKPLIPKPKPKQ
                     ASAASYFQKRNSQTNKTEEVKEENLKNVLSETPAICPPQNTENQRPKTGFQMWLEENR
                     SNILSDNPDFSDEADIIKEGMIRFRVLSTEERKVWANKAKGETASEGTEAKKRKRVVD
                     ESDETENQEEKAKENLNLSKKQKPLDFSTNQKLSAFAFKQE"
     misc_feature    67..159
                     /gene="AND-1"
                     /note="WD40; Region: WD domain"
                     /db_xref="CDD:pfam00400"
     misc_feature    70..162
                     /gene="AND-1"
                     /note="WD40; Region: WD40 repeats"
                     /db_xref="CDD:smart00320"
     misc_feature    412..528
                     /gene="AND-1"
                     /note="WD40; Region: WD40 repeats"
                     /db_xref="CDD:smart00320"
     misc_feature    418..528
                     /gene="AND-1"
                     /note="WD40; Region: WD domain"
                     /db_xref="CDD:pfam00400"
     misc_feature    3088..3255
                     /gene="AND-1"
                     /note="HMG_box; Region: HMG (high mobility group) box"
                     /db_xref="CDD:pfam00505"
     misc_feature    3088..3255
                     /gene="AND-1"
                     /note="HMG; Region: high mobility group"
                     /db_xref="CDD:smart00398"
BASE COUNT     1306 a    713 c    896 g   1135 t
ORIGIN      
        1 gaattcggca cgaggtcacc cggataggta aaggaaaaca tgcctgccac acggaagcca
       61 atgagatatg ggcatacaga gggacacacg gaggtctgtt ttgatgattc tgggagtttt
      121 attgtgactt gtggaagtga tggtgatgtg aggatttggg aagacttgga tgatgatgat
      181 cctaagttca ttaatgttgg agaaaaggca tattcatgtg ctttgaagag tggaaaactg
      241 gtcactgcag tttctaataa tactattcaa gtccacacat ttcctgaagg agttccagat
      301 ggtatattga ctcgcttcac tacaaatgca aaccatgtgg tctttaatgg ggatggtact
      361 aaaattgctg ctggatctag tgattttcta gtcaaaattg tggatgtgat ggatagcagc
      421 caacagaaaa catttcgagg acatgatgcc cctgttttaa gtctttcctt tgatcctaag
      481 gacatctttc tggcatcagc tagttgtgat ggatctgtca gagtgtggca aatttcagat
      541 cagacatgtg ctattagttg gccactgcta caaaaatgca acgatgtgat aaatgcaaaa
      601 tcaatctgca gacttgcttg gcagccaaaa agtgggaagt tactggcaat tcctgtggaa
      661 aaatctgtta agctatatag aagagaatct tggagtcatc aatttgatct ttcagataat
      721 ttcatctctc agaccctcaa tatagtaacc tggtctccct gtgggcaata tttagctgca
      781 ggtagtatta atggtctaat catagtttgg aatgtggaaa ccaaagactg catggaaagg
      841 gtgaaacatg agaaaggtta tgcaatttgt ggtctggcat ggcatcctac ttgtggtcga
      901 atatcgtata ctgatgcgga aggaaatcta gggcttctag agaatgtttg tgaccccagt
      961 ggaaagacat caagcagtaa ggtatctagc agagtggaaa aggattataa tgatcttttt
     1021 gatggagatg atatgagtaa tgctggtgat tttctaaatg acaatgcagt tgagatccct
     1081 tctttttcaa aagggattat aaatgatgat gaggatgatg aagacctcat gatggcttca
     1141 ggtcgtccta gacagcgaag tcacatccta gaagatgatg aaaactcagt tgatatttca
     1201 atgctaaaaa ctggttctag tcttctcaaa gaggaggagg aagatggtca agaaggcagc
     1261 attcacaatc taccacttgt aacatcccaa aggccatttt atgatggacc catgccaact
     1321 ccccggcaaa agccatttca gtcaggttct acaccgttgc atctcactca cagattcatg
     1381 gtgtggaact ctattggaat tattcgctgc tataatgatg agcaagacaa tgccatagat
     1441 gtggagttcc atgatacctc catacaccat gcaacacact tatcaaacac tttgaattat
     1501 acaatagcag atctttccca cgaagctatt ttgttggcat gtgaaagcac tgatgaacta
     1561 gcaagcaagc ttcactgcct gcactttagt tcttgggatt caagcaaaga gtggataata
     1621 gacttgcctc agaatgagga tattgaagcc atatgtctcg gtcaaggatg ggctgctgcc
     1681 gctactagtg ccctgcttct tcgattgttt actattggag gggttcaaaa agaggtattc
     1741 agccttgctg gacctgtggt gtcaatggca ggacatggag aacagctttt cattgtttat
     1801 cacagaggta caggatttga tggggatcag tgccttggag ttcaactgct agagctgggg
     1861 aaaaagaaaa aacaaatttt gcatggtgac cctcttcctc ttacaaggaa atcctacctt
     1921 gcatggattg ggttttcagc tgaaggtacc ccttgttacg tggattcaga aggaattgtt
     1981 cgaatgctta acagaggact tggtaatacg tggactccta tatgtaatac aagagagcac
     2041 tgcaaaggaa aatctgatca ctactgggtg gttggtatcc atgaaaatcc ccagcaacta
     2101 aggtgcattc cttgtaaagg ttctcggttt cccccaaccc ttccacgccc tgctgttgct
     2161 atattatcct ttaagcttcc ttactgtcag attgcaacag agaaaggaca aatggaggag
     2221 caattttggc gttcagttat atttcacaac caccttgatt atttagctaa aaatggttat
     2281 gaatatgaag agagcactaa aaatcaagca acaaaagagc aacaggaact tttaatgaaa
     2341 atgcttgcgc tttcttgtaa actggagcga gaattccgtt gtgtggaact tgctgatcta
     2401 atgactcaaa atgctgtgaa tttagccatt aaatatgctt ctcgctctcg gaaattaata
     2461 ctggctcaaa aactaagtga actggctgta gagaaggcag ccgaattgac agcaacccag
     2521 gtggaagagg aagaagaaga agaagatttc agaaaaaagc tgaatgctgg ttacagcaat
     2581 actgctacag agtggagcca accaaggttc agaaatcaag ttgaagaaga tgctgaggac
     2641 agtggagaag ctgatgatga agaaaaacca gaaatacata agcctggaca gaactcgttt
     2701 tccaaaagta caaattcctc tgatgtttca gctaagtcag gtgcagttac ctttagcagc
     2761 caaggacgag taaatccctt taaggtatca gccagttcca aagaaccagc catgtcaatg
     2821 aattcagcac gttcaactaa tattttagac aatatgggca aatcatccaa gaaatccact
     2881 gcacttagtc gaactacaaa taatgaaaag tctcccatta taaagcctct gattccaaag
     2941 ccgaagccta agcaggcatc tgcagcatcc tatttccaga aaagaaattc tcaaactaat
     3001 aaaactgagg aagtgaaaga agaaaatctt aaaaatgtat tatctgaaac cccagctata
     3061 tgtcctcctc aaaacactga aaaccaaagg ccaaagaccg ggttccagat gtggttagaa
     3121 gaaaatagaa gtaatatttt gtctgacaat cctgactttt cagatgaagc agacataata
     3181 aaagaaggaa tgattcgatt tagagtattg tcaactgaag aaagaaaggt gtgggctaac
     3241 aaagccaaag gagaaacggc aagtgaagga actgaagcaa agaagcgaaa acgtgtggtt
     3301 gatgaaagtg atgaaacaga aaaccaggaa gaaaaagcaa aagagaacct gaatttgtct
     3361 aaaaagcaga aacctttaga tttttctaca aatcagaaac tatcagcttt tgcatttaag
     3421 caggagtaaa ggaagaaagt gaccctaggg aagtaatgga ttttttttac tcatctttga
     3481 atatagactc gagtctttgg gaaactcatt atatatatat tttttaaaga gtttgaagca
     3541 actgtttgtc tttataagat aatgtagtaa ttatattggt gtaggtaaca ggacatatgt
     3601 aaaaactatc atctttgcag attactctgc ctccaaatgc agggcctttc agagatgcat
     3661 tgtgattgta attactgagt tgaagctcca accaatttga atttgtttct taaccttgaa
     3721 aaatcattaa agccaaggta ttaaaacctt tgtgcattaa taccttctag gggtttggtt
     3781 catttggttt ttgtcatgtg caaggaagga caatagtcct ctttccaagt gtgttagcat
     3841 agacttctct atatgtttct actagaccta ggggatgacg tcttttaata atactggccc
     3901 taaacatgta aataatcttg taggtgagac tttttctttt gtgtttcgga aatttcctat
     3961 gtggctttca gttgtctgtt tgtatagcct ggattttttt gaggtaaatg aaactttctc
     4021 atttgtaaaa aaaaaaaaaa aaaactcgag
//



Revised: July 5, 2002.
 
 


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1: NM_000610. Homo sapiens CD44...[gi:21361192] Links  


LOCUS       CD44                    3091 bp    mRNA    linear   PRI 10-JUN-2002
DEFINITION  Homo sapiens CD44 antigen (homing function and Indian blood group
            system) (CD44), mRNA.
ACCESSION   NM_000610
VERSION     NM_000610.2  GI:21361192
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AJ251595.1.
            On Jun 10, 2002 this sequence version replaced gi:10835162.
FEATURES             Location/Qualifiers
     source          1..3091
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     gene            1..3091
                     /gene="CD44"
                     /note="IN; MC56; MDU2; MDU3; MIC4; CD44R"
                     /db_xref="LocusID:960"
                     /db_xref="MIM:107269"
     prim_transcript <1..>3091
                     /gene="CD44"
     CDS             179..2407
                     /gene="CD44"
                     /function="hyaluronate receptor"
                     /note="CD44 antigen (homing function)"
                     /codon_start=1
                     /product="CD44 antigen (homing function and Indian blood
                     group system)"
                     /protein_id="NP_000601.2"
                     /db_xref="GI:21361193"
                     /db_xref="LocusID:960"
                     /db_xref="MIM:107269"
                     /translation="MDKFWWHAAWGLCLVPLSLAQIDLNITCRFAGVFHVEKNGRYSI
                     SRTEAADLCKAFNSTLPTMAQMEKALSIGFETCRYGFIEGHVVIPRIHPNSICAANNT
                     GVYILTYNTSQYDTYCFNASAPPEEDCTSVTDLPNAFDGPITITIVNRDGTRYVQKGE
                     YRTNPEDIYPSNPTDDDVSSGSSSERSSTSGGYIFYTFSTVHPIPDEDSPWITDSTDR
                     IPATTLMSTSATATETATKRQEAWDWFSWLFLPSESKNHLHTTTQMAGTSSNTISAGW
                     EPNEENEDERDRHLSFSGSGIDDDEDFISSTISTTPRAFDHTKQNQDWTQWNPSHSNP
                     EVLLQTTTRMTDVDRNGTTAYEGNWNPEAHPPLIHHEHHEEEETPHSTSTIQATPSST
                     TEETATQKEQWFGNRWHEGYRQTPREDSHSTTGTAAASAHTSHPMQGRTTPSPEDSSW
                     TDFFNPISHPMGRGHQAGRRMDMDSSHSTTLQPTANPNTGLVENLDRTGPLSMTTQQS
                     NSQSFSTSHEGLEEDKDHPTTSTLTSSNRNDVTGGRRDPNHSEGSTTLLEGYTSHYPH
                     TKESRTFIPVTSAKTGSFGVTAVTVGDSNSNVNRSLSGDQDTFHPSGGSHTTHGSESD
                     GHSHGSQEGGANTTSGPIRTPQIPEWLIILASLLALALILAVCIAVNSRRRCGQKKKL
                     VINSGNGAVEDRKPSGLNGEASKSQEMVHLVNKESSETPDQFMTADETRNLQNVDMKI
                     GV"
     sig_peptide     179..250
                     /gene="CD44"
     mat_peptide     248..2404
                     /gene="CD44"
                     /product="CD44 antigen (homing function and Indian blood
                     group system)"
     misc_feature    272..538
                     /gene="CD44"
                     /note="LINK; Region: Link (Hyaluronan-binding)"
                     /db_xref="CDD:smart00445"
     misc_feature    272..535
                     /gene="CD44"
                     /note="Xlink; Region: Extracellular link domain"
                     /db_xref="CDD:pfam00193"
     variation       433
                     /gene="CD44"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1071695"
     variation       433
                     /gene="CD44"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3198437"
     variation       504
                     /gene="CD44"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1058200"
     variation       complement(2545)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2295755"
     variation       complement(2840)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:17640"
     variation       2840
                     /gene="CD44"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:8193"
BASE COUNT      901 a    792 c    679 g    719 t
ORIGIN      
        1 gggagaccca agcttctaga gatccctcga cctcgagatc cattgtgctc taaagagcgg
       61 accccagcct ctgccaggtt cggtccgcca tcctcgtccc gtcctccgcc ggcccctgcc
      121 ccgcgcccag ggatcctcca gctcctttcg cccgcgccct ccgttcgctc cggacaccat
      181 ggacaagttt tggtggcacg cagcctgggg actctgcctc gtgccgctga gcctggcgca
      241 gatcgatttg aatataacct gccgctttgc aggtgtattc cacgtggaga aaaatggtcg
      301 ctacagcatc tctcggacgg aggccgctga cctctgcaag gctttcaata gcaccttgcc
      361 cacaatggcc cagatggaga aagctctgag catcggattt gagacctgca ggtatgggtt
      421 catagaaggg catgtggtga ttccccggat ccaccccaac tccatctgtg cagcaaacaa
      481 cacaggggtg tacatcctca catacaacac ctcccagtat gacacatatt gcttcaatgc
      541 ttcagctcca cctgaagaag attgtacatc agtcacagac ctgcccaatg cctttgatgg
      601 accaattacc ataactattg ttaaccgtga tggcacccgc tatgtccaga aaggagaata
      661 cagaacgaat cctgaagaca tctaccccag caaccctact gatgatgacg tgagcagcgg
      721 ctcctccagt gaaaggagca gcacttcagg aggttacatc ttttacacct tttctactgt
      781 acaccccatc ccagacgaag acagtccctg gatcaccgac agcacagaca gaatccctgc
      841 taccactttg atgagcacta gtgctacagc aactgagaca gcaaccaaga ggcaagaagc
      901 ctgggattgg ttttcatggt tgtttctacc atcagagtca aagaatcatc ttcacacaac
      961 aacacaaatg gctggtacgt cttcaaatac catctcagca ggctgggagc caaatgaaga
     1021 aaatgaagat gaaagagaca gacacctcag tttttctgga tcaggcattg atgatgatga
     1081 agattttatc tccagcacca tttcaaccac accacgggcc tttgaccaca caaaacagaa
     1141 ccaggactgg acccagtgga acccaagcca ttcaaatccg gaagtgctac ttcagacaac
     1201 cacaaggatg actgatgtag acagaaatgg caccactgct tatgaaggaa actggaaccc
     1261 agaagcacac cctcccctca ttcaccatga gcatcatgag gaagaagaga ccccacattc
     1321 tacaagcaca atccaggcaa ctcctagtag tacaacggaa gaaacagcta cccagaagga
     1381 acagtggttt ggcaacagat ggcatgaggg atatcgccaa acacccagag aagactccca
     1441 ttcgacaaca gggacagctg cagcctcagc tcataccagc catccaatgc aaggaaggac
     1501 aacaccaagc ccagaggaca gttcctggac tgatttcttc aacccaatct cacaccccat
     1561 gggacgaggt catcaagcag gaagaaggat ggatatggac tccagtcata gtacaacgct
     1621 tcagcctact gcaaatccaa acacaggttt ggtggaaaat ttggacagga caggacctct
     1681 ttcaatgaca acgcagcaga gtaattctca gagcttctct acatcacatg aaggcttgga
     1741 agaagataaa gaccatccaa caacttctac tctgacatca agcaatagga atgatgtcac
     1801 aggtggaaga agagacccaa atcattctga aggctcaact actttactgg aaggttatac
     1861 ctctcattac ccacacacga aggaaagcag gaccttcatc ccagtgacct cagctaagac
     1921 tgggtccttt ggagttactg cagttactgt tggagattcc aactctaatg tcaatcgttc
     1981 cttatcagga gaccaagaca cattccaccc cagtgggggg tcccatacca ctcatggatc
     2041 tgaatcagat ggacactcac atgggagtca agaaggtgga gcaaacacaa cctctggtcc
     2101 tataaggaca ccccaaattc cagaatggct gatcatcttg gcatccctct tggccttggc
     2161 tttgattctt gcagtttgca ttgcagtcaa cagtcgaaga aggtgtgggc agaagaaaaa
     2221 gctagtgatc aacagtggca atggagctgt ggaggacaga aagccaagtg gactcaacgg
     2281 agaggccagc aagtctcagg aaatggtgca tttggtgaac aaggagtcgt cagaaactcc
     2341 agaccagttt atgacagctg atgagacaag gaacctgcag aatgtggaca tgaagattgg
     2401 ggtgtaacac ctacaccatt atcttggaaa gaaacaaccg ttggaaacat aaccattaca
     2461 gggagctggg acacttaaca gatgcaatgt gctactgatt gtttcattgc gaatcttttt
     2521 tagcataaaa ttttctactc tttttgtttt ttgtgttttg ttctttaaag tcaggtccaa
     2581 tttgtaaaaa cagcattgct ttgtaaatta gggcccaatt aataatcagc aagaatttga
     2641 tcgttcagtt ccacttggag gccttcatcc tcgggtgtgc tatggatggc ttctaacaaa
     2701 aactacacat atgtattcct gatcgccaac ctttccccca ccagctaagg acatttccca
     2761 gggttaatag ggcctggtcc ctgggaggaa atttgaatgg gtccattttg cccttccata
     2821 gcctaatccc tgggcattgc tttccactga ggttggggtg tactagttac acatcttcaa
     2881 cagaccccct ctagaaattt ttcagatgct tctgggagac accaaagggt gaagctattt
     2941 atctgtagta aactatttat ctgtgttttt gaaatattaa accctggatc agtcctttga
     3001 tcagtataat tttttaaagt tactttgtca gaggcacaaa agggtttaaa ctgattcata
     3061 ataaatatct gtacttcttc gatcttcaaa a
//



Revised: July 5, 2002.
 
 


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1: NM_003804. Homo sapiens rece...[gi:4506538] Links  


LOCUS       RIPK1                   2016 bp    mRNA    linear   PRI 14-MAY-2002
DEFINITION  Homo sapiens receptor (TNFRSF)-interacting serine-threonine kinase
            1 (RIPK1), mRNA.
ACCESSION   NM_003804
VERSION     NM_003804.1  GI:4506538
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2016)
  AUTHORS   Hsu,H., Huang,J., Shu,H.B., Baichwal,V. and Goeddel,D.V.
  TITLE     TNF-dependent recruitment of the protein kinase RIP to the TNF
            receptor-1 signaling complex
  JOURNAL   Immunity 4 (4), 387-396 (1996)
  MEDLINE   96200892
   PUBMED   8612133
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from U50062.1.
FEATURES             Location/Qualifiers
     source          1..2016
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p24.3"
                     /tissue_type="umbilical vein endothelium"
     gene            1..2016
                     /gene="RIPK1"
                     /note="RIP"
                     /db_xref="LocusID:8737"
                     /db_xref="MIM:603453"
     CDS             1..2016
                     /gene="RIPK1"
                     /note="Ser/Thr protein kinase; protein has death domain
                     sequence at the carboxyl terminus; receptor interacting
                     protein"
                     /codon_start=1
                     /product="receptor (TNFRSF)-interacting serine-threonine
                     kinase 1"
                     /protein_id="NP_003795.1"
                     /db_xref="GI:4506539"
                     /db_xref="LocusID:8737"
                     /db_xref="MIM:603453"
                     /translation="MQPDMSLNVIKMKSSDFLESAELDSGGFGKVSLCFHRTQGLMIM
                     KTVYKGPNCIEHNEALLEEAKMMNRLRHSRVVKLLGVIIEEGKYSLVMEYMEKGNLMH
                     VLKAEMSTPLSVKGRIILEIIEGMCYLHGKGVIHKDLKPENILVDNDFHIKIADLGLA
                     SFKMWSKLNNEEHNELREVDGTAKKNGGTLYYMAPEHLNDVNAKPTEKSDVYSFAVVL
                     WAIFANKEPYENAICEQQLIMCIKSGNRPDVDDITEYCPREIISLMKLCWEANPEARP
                     TFPGIEEKFRPFYLSQLEESVEEDVKSLKKEYSNENAVVKRMQSLQLDCVAVPSSRSN
                     SATEQPGSLHSSQGLGMGPVEESWFAPSLEHPQEENEPSLQSKLQDEANYHLYGSRMD
                     RQTKQQPRQNVAYNREEERRRRVSHDPFAQQRPYENFQNTEGKGTVYSSAASHGNAVH
                     QPSGLTSQPQVLYQNNGLYSSHGFGTRPLDPGTAGPRVWYRPIPSHMPSLHNIPVPET
                     NYLGNTPTMPFSSLPPTDESIKYTIYNSTGIQIGAYNYMEIGGTSSSLLDSTNTNFKE
                     EPAAKYQAIFDNTTSLTDKHLDPIRENLGKHWKNCARKLGFTQSQIDEIDHDYERDGL
                     KEKVYQMLQKWVMREGIKGATVGKLAQALHQCSRIDLLSSLIYVSQN"
     misc_feature    64..855
                     /gene="RIPK1"
                     /note="TyrKc; Region: Tyrosine kinase, catalytic domain"
                     /db_xref="CDD:smart00219"
     misc_feature    64..843
                     /gene="RIPK1"
                     /note="S_TKc; Region: Serine/Threonine protein kinases,
                     catalytic domain"
                     /db_xref="CDD:smart00220"
     misc_feature    64..837
                     /gene="RIPK1"
                     /note="pkinase; Region: Protein kinase domain"
                     /db_xref="CDD:pfam00069"
     misc_feature    1717..2001
                     /gene="RIPK1"
                     /note="DEATH; Region: DEATH domain, found in proteins
                     involved in cell death (apoptosis)."
                     /db_xref="CDD:smart00005"
     misc_feature    1750..1995
                     /gene="RIPK1"
                     /note="death; Region: Death domain"
                     /db_xref="CDD:pfam00531"
     variation       complement(84)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2272990"
     variation       1313
                     /gene="RIPK1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3173519"
BASE COUNT      629 a    446 c    514 g    427 t
ORIGIN      
        1 atgcaaccag acatgtcctt gaatgtcatt aagatgaaat ccagtgactt cctggagagt
       61 gcagaactgg acagcggagg ctttgggaag gtgtctctgt gtttccacag aacccaggga
      121 ctcatgatca tgaaaacagt gtacaagggg cccaactgca ttgagcacaa cgaggccctc
      181 ttggaggagg cgaagatgat gaacagactg agacacagcc gggtggtgaa gctcctgggc
      241 gtcatcatag aggaagggaa gtactccctg gtgatggagt acatggagaa gggcaacctg
      301 atgcacgtgc tgaaagccga gatgagtact ccgctttctg taaaaggaag gataattttg
      361 gaaatcattg aaggaatgtg ctacttacat ggaaaaggcg tgatacacaa ggacctgaag
      421 cctgaaaata tccttgttga taatgacttc cacattaaga tcgcagacct cggccttgcc
      481 tcctttaaga tgtggagcaa actgaataat gaagagcaca atgagctgag ggaagtggac
      541 ggcaccgcta agaagaatgg cggcaccctc tactacatgg cgcccgagca cctgaatgac
      601 gtcaacgcaa agcccacaga gaagtcggat gtgtacagct ttgctgtagt actctgggcg
      661 atatttgcaa ataaggagcc atatgaaaat gctatctgtg agcagcagtt gataatgtgc
      721 ataaaatctg ggaacaggcc agatgtggat gacatcactg agtactgccc aagagaaatt
      781 atcagtctca tgaagctctg ctgggaagcg aatccggaag ctcggccgac atttcctggc
      841 attgaagaaa aatttaggcc tttttattta agtcaattag aagaaagtgt agaagaggac
      901 gtgaagagtt taaagaaaga gtattcaaac gaaaatgcag ttgtgaagag aatgcagtct
      961 cttcaacttg attgtgtggc agtaccttca agccggtcaa attcagccac agaacagcct
     1021 ggttcactgc acagttccca gggacttggg atgggtcctg tggaggagtc ctggtttgct
     1081 ccttccctgg agcacccaca agaagagaat gagcccagcc tgcagagtaa actccaagac
     1141 gaagccaact accatcttta tggcagccgc atggacaggc agacgaaaca gcagcccaga
     1201 cagaatgtgg cttacaacag agaggaggaa aggagacgca gggtctccca tgaccctttt
     1261 gcacagcaaa gaccttacga gaattttcag aatacagagg gaaaaggcac tgtttattcc
     1321 agtgcagcca gtcatggtaa tgcagtgcac cagccctcag ggctcaccag ccaacctcaa
     1381 gtactgtatc agaacaatgg attatatagc tcacatggct ttggaacaag accactggat
     1441 ccaggaacag caggtcccag agtttggtac aggccaattc caagtcatat gcctagtctg
     1501 cataatatcc cagtgcctga gaccaactat ctaggaaata cacccaccat gccattcagc
     1561 tccttgccac caacagatga atctataaaa tataccatat acaatagtac tggcattcag
     1621 attggagcct acaattatat ggagattggt gggacgagtt catcactact agacagcaca
     1681 aatacgaact tcaaagaaga gccagctgct aagtaccaag ctatctttga taataccact
     1741 agtctgacgg ataaacacct ggacccaatc agggaaaatc tgggaaagca ctggaaaaac
     1801 tgtgcccgta aactgggctt cacacagtct cagattgatg aaattgacca tgactatgag
     1861 cgagatggac tgaaagaaaa ggtttaccag atgctccaaa agtgggtgat gagggaaggc
     1921 ataaagggag ccacggtggg gaagctggcc caggcgctcc accagtgttc caggatcgac
     1981 cttctgagca gcttgattta cgtcagccag aactaa
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001694. Homo sapiens ATPa...[gi:19913436] Links  


LOCUS       ATP6V0C                 1126 bp    mRNA    linear   PRI 07-SEP-2002
DEFINITION  Homo sapiens ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c
            (ATP6V0C), mRNA.
ACCESSION   NM_001694
VERSION     NM_001694.2  GI:19913436
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1126)
  AUTHORS   Gillespie,G.A., Somlo,S., Germino,G.G., Weinstat-Saslow,D. and
            Reeders,S.T.
  TITLE     CpG island in the region of an autosomal dominant polycystic kidney
            disease locus defines the 5' end of a gene encoding a putative
            proton channel
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 88 (10), 4289-4293 (1991)
  MEDLINE   91239553
   PUBMED   1709739
REFERENCE   2  (bases 1 to 1126)
  AUTHORS   Finbow,M.E. and Harrison,M.A.
  TITLE     The vacuolar H+-ATPase: a universal proton pump of eukaryotes
  JOURNAL   Biochem. J. 324 (Pt 3), 697-712 (1997)
  MEDLINE   97327715
   PUBMED   9210392
REFERENCE   3  (bases 1 to 1126)
  AUTHORS   Stevens,T.H. and Forgac,M.
  TITLE     Structure, function and regulation of the vacuolar (H+)-ATPase
  JOURNAL   Annu Rev Cell Dev Biol 13, 779-808 (1997)
  MEDLINE   98105098
   PUBMED   9442887
REFERENCE   4  (bases 1 to 1126)
  AUTHORS   Kane,P.M.
  TITLE     Introduction: V-ATPases 1992-1998
  JOURNAL   J. Bioenerg. Biomembr. 31 (1), 3-5 (1999)
  MEDLINE   99270691
   PUBMED   10340843
REFERENCE   5  (bases 1 to 1126)
  AUTHORS   Nelson,N. and Harvey,W.R.
  TITLE     Vacuolar and plasma membrane proton-adenosinetriphosphatases
  JOURNAL   Physiol. Rev. 79 (2), 361-385 (1999)
  MEDLINE   99238916
   PUBMED   10221984
REFERENCE   6  (bases 1 to 1126)
  AUTHORS   Forgac,M.
  TITLE     Structure and properties of the vacuolar (H+)-ATPases
  JOURNAL   J. Biol. Chem. 274 (19), 12951-12954 (1999)
  MEDLINE   99240666
   PUBMED   10224039
REFERENCE   7  (bases 1 to 1126)
  AUTHORS   Wieczorek,H., Brown,D., Grinstein,S., Ehrenfeld,J. and Harvey,W.R.
  TITLE     Animal plasma membrane energization by proton-motive V-ATPases
  JOURNAL   Bioessays 21 (8), 637-648 (1999)
  MEDLINE   99369629
   PUBMED   10440860
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC009290.1 and BI548787.1.
            On Apr 3, 2002 this sequence version replaced gi:4502312.
            Summary: This gene encodes a component of vacuolar ATPase
            (V-ATPase), a multisubunit enzyme that mediates acidification of
            eukaryotic intracellular organelles. V-ATPase dependent organelle
            acidification is necessary for such intracellular processes as
            protein sorting, zymogen activation, and receptor-mediated
            endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a
            transmembrane V0 domain. The V1 domain consists of a hexamer of
            three A and three B subunits plus the C, D, and E subunits. It
            contains the ATP catalytic site. The encoded protein is part of the
            transmembrane V0 domain. This gene had the previous symbols of
            ATP6C and ATP6L.
FEATURES             Location/Qualifiers
     source          1..1126
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
                     /clone="MGC:16615 IMAGE:4111426"
     gene            1..1126
                     /gene="ATP6V0C"
                     /note="ATPL; VATL; Vma3; ATP6C; ATP6L"
                     /db_xref="LocusID:527"
                     /db_xref="MIM:108745"
     CDS             153..620
                     /gene="ATP6V0C"
                     /EC_number="3.6.3.14"
                     /note="ATPase, H+ transporting, lysosomal 16kD, V0 subunit
                     c; vacuolar proton pump, 16 kDa subunit; ATPase, H+
                     transporting, lysosomal, 16-KD; vacuolar ATP synthase 16
                     kDa proteolipid subunit; H(+)-transporting two-sector
                     ATPase, 16 kDa subunit; vacuolar H+ ATPase proton channel
                     subunit; ATPase, H+ transporting, lysosomal (vacuolar
                     proton pump) 16kD"
                     /codon_start=1
                     /product="ATPase, H+ transporting, lysosomal, V0 subunit
                     c"
                     /protein_id="NP_001685.1"
                     /db_xref="GI:4502313"
                     /db_xref="LocusID:527"
                     /db_xref="MIM:108745"
                     /translation="MSESKSGPEYASFFAVMGASAAMVFSALGAAYGTAKSGTGIAAM
                     SVMRPEQIMKSIIPVVMAGIIAIYGLVVAVLIANSLNDDISLYKSFLQLGAGLSVGLS
                     GLAAGFAIGIVGDAGVRGTAQQPRLFVGMILILIFAEVLGLYGLIVALILSTK"
     misc_feature    192..380
                     /gene="ATP6V0C"
                     /note="Region: pfam00137, ATP-synt_C, ATP synthase subunit
                     C"
     variation       245
                     /gene="ATP6V0C"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3209957"
     variation       670
                     /gene="ATP6V0C"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1804139"
     polyA_signal    1074..1079
                     /gene="ATP6V0C"
     variation       1083
                     /gene="ATP6V0C"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3190497"
     variation       1083
                     /gene="ATP6V0C"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1130991"
     polyA_site      1092
                     /gene="ATP6V0C"
                     /evidence=experimental
BASE COUNT      200 a    392 c    296 g    238 t
ORIGIN      
        1 gttctgcggt gctggtattt agagcgcagc ggctgacggg ccggatcgcc ttcgccgccg
       61 cccgcccgca aaccttcgtg cccggcccgt cctcgccccc gcctccgcca ccgcctcggc
      121 ccgcagagct tgccccctcc ccacccgcag acatgtccga gtccaagagc ggccccgagt
      181 atgcttcgtt tttcgccgtc atgggcgcct cggccgccat ggtcttcagc gccctgggcg
      241 ctgcctatgg cacagccaag agcggtaccg gcattgcggc catgtctgtc atgcggccgg
      301 agcagatcat gaagtccatc atcccagtgg tcatggctgg catcatcgcc atctacggcc
      361 tggtggtggc agtcctcatc gccaactccc tgaatgacga catcagcctc tacaagagct
      421 tcctccagct gggcgccggc ctgagcgtgg gcctgagcgg cctggcagcc ggctttgcca
      481 tcggcatcgt gggggacgct ggcgtgcggg gcaccgccca gcagccccga ctattcgtgg
      541 gcatgatcct gattctcatc ttcgccgagg tgctcggcct ctacggtctc atcgtcgccc
      601 tcatcctctc cacaaagtag accctctccg agcccaccag ccacagaata ttatgtaaag
      661 accacccctc ctcattccag aacgaacagc ctgacacata cgcacggggc cgccgccccc
      721 agtagttggt cttgtacatg cgcagtgtcc tagtgcccat cgtctgtttc cccggccttg
      781 cccccgcccg ccccgtgccg tggacatctg ggcccactca tcgcccctcc aggcccccgg
      841 cgccccaccc cctagagtgc tctgtgtatg cggatgattt agaattgtca tttctcttta
      901 ctggatgttt atttataaag atctggcctg ttcctgcgtc tgcggagcgg cccttgtctc
      961 ccagctatct ataaccttag ctagagtgtc gccttgtggg ttcctgttgc tgagacttcc
     1021 tggatggagc cgccctcacc gccgggcccg tggccctgcg cggagctgtg tccaataaag
     1081 ttcttggatg tgaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaa
//



Revised: July 5, 2002.
 
 


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1: NM_014740. Homo sapiens KIAA...[gi:7661919] Links  


LOCUS       KIAA0111                1682 bp    mRNA    linear   PRI 10-DEC-2001
DEFINITION  Homo sapiens KIAA0111 gene product (KIAA0111), mRNA.
ACCESSION   NM_014740
VERSION     NM_014740.1  GI:7661919
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1682)
  AUTHORS   Nagase,T., Miyajima,N., Tanaka,A., Sazuka,T., Seki,N., Sato,S.,
            Tabata,S., Ishikawa,K.-i., Kawarabayasi,Y., Kotani,H. and Nomura,N.
  TITLE     Prediction of the coding sequences of unidentified human genes.
            III. The coding sequences of 40 new genes (KIAA0081-KIAA0120)
            deduced by analysis of cDNA clones from human cell line KG-1
  JOURNAL   DNA Res. 2 (1), 37-43 (1995)
  MEDLINE   95308325
   PUBMED   7788527
COMMENT     PREDICTED REFSEQ: The mRNA record is supported by experimental
            evidence; however, the coding sequence is predicted. The reference
            sequence was derived from D21853.1.
FEATURES             Location/Qualifiers
     source          1..1682
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
                     /clone="HA0659"
                     /sex="male"
                     /cell_line="KG-1"
                     /cell_type="myeloblast"
     gene            1..1682
                     /gene="KIAA0111"
                     /db_xref="LocusID:9775"
     variation       49..50
                     /gene="KIAA0111"
                     /allele="-"
                     /allele="CA"
                     /db_xref="dbSNP:3834973"
     variation       69..70
                     /gene="KIAA0111"
                     /allele="-"
                     /allele="CA"
                     /db_xref="dbSNP:3834973"
     variation       89..90
                     /gene="KIAA0111"
                     /allele="-"
                     /allele="CA"
                     /db_xref="dbSNP:3834973"
     variation       128..129
                     /gene="KIAA0111"
                     /allele="-"
                     /allele="CA"
                     /db_xref="dbSNP:3834973"
     variation       147..148
                     /gene="KIAA0111"
                     /allele="-"
                     /allele="CA"
                     /db_xref="dbSNP:3834974"
     CDS             215..1450
                     /gene="KIAA0111"
                     /codon_start=1
                     /evidence=not_experimental
                     /product="KIAA0111 gene product"
                     /protein_id="NP_055555.1"
                     /db_xref="GI:7661920"
                     /db_xref="LocusID:9775"
                     /translation="MATTATMATSGSARKRLLKEEDMTKVEFETSEEVDVTPTFDTMG
                     LREDLLRGIYAYGFEKPSAIQQRAIKQIIKGRDVIAQSQSGTGKTATFSISVLQCLDI
                     QVRETQALILAPTRELAVQIQKGLLALGDYMNVQCHACIGGTNVGEDIRKLDYGQHVV
                     AGTPGRVFDMIRRRSLRTRAIKMLVLDEADEMLNKGFKEQIYDVYRYLPPATQVVLIS
                     ATLPHEILEMTNKFMTDPIRILVKRDELTLEGIKQFFVAVEREEWKFDTLCDLYDTLT
                     ITQAVIFCNTKRKVDWLTEKMREANFTVSSMHGDMPQKERESIMKEFRSGASRVLIST
                     DVWARGLDVPQVSLIINYDLPNNRELYIHRIGRSGRYGRKGVAINFVKNDDIRILRDI
                     EQYYSTQIDEMPMNVADLI"
     misc_feature    365..976
                     /gene="KIAA0111"
                     /note="DEAD; Region: DEAD/DEAH box helicase. Members of
                     this family include the DEAD and DEAH box helicases.
                     Helicases are involved in unwinding nucleic acids. The
                     DEAD box helicases are involved in various aspects of RNA
                     metabolism"
                     /db_xref="CDD:pfam00270"
     misc_feature    437..976
                     /gene="KIAA0111"
                     /note="DEXDc; Region: DEAD-like helicases superfamily"
                     /db_xref="CDD:smart00487"
     misc_feature    1085..1330
                     /gene="KIAA0111"
                     /note="helicase_C; Region: Helicase conserved C-terminal
                     domain. The Prosite family is restricted to DEAD/H
                     helicases"
                     /db_xref="CDD:pfam00271"
     misc_feature    1085..1330
                     /gene="KIAA0111"
                     /note="HELICc; Region: helicase superfamily c-terminal
                     domain"
                     /db_xref="CDD:smart00490"
     variation       1087
                     /gene="KIAA0111"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1804078"
BASE COUNT      429 a    399 c    474 g    380 t
ORIGIN      
        1 cagcggcaca gcgaggtcgg cagcggcaca gcgaggtcgg cagcggcaca gcgaggtcgg
       61 cagcggcaca gcgaggtcgg cagcggcaca gcgaggtcgg cagcggcaca gcgaggtcgg
      121 cagcggcagc gaggtcggca gcggcacagc gaggtcggca gcggcagcga ggtcggcagc
      181 ggcgcgcgct gtgctcttcc gcggactctg aatcatggcg accacggcca cgatggcgac
      241 ctcgggctcg gcgcgaaagc ggctgctcaa agaggaagac atgactaaag tggaattcga
      301 gaccagcgag gaggtggatg tgacccccac gttcgacacc atgggcctgc gggaggacct
      361 gctgcggggc atctacgctt acggttttga aaaaccatca gcaatccagc aacgagcaat
      421 caagcagatc atcaaaggga gagatgtcat cgcacagtct cagtccggca caggaaaaac
      481 agccaccttc agtatctcag tcctccagtg tttggatatt caggttcgtg aaactcaagc
      541 tttgatcttg gctcccacaa gagagttggc tgtgcagatc cagaaggggc tgcttgctct
      601 cggtgactac atgaatgtcc agtgccatgc ctgcattgga ggcaccaatg ttggcgagga
      661 catcaggaag ctggattacg gacagcatgt tgtcgcgggc actccagggc gtgtttttga
      721 tatgattcgt cgcagaagcc taaggacacg tgctatcaaa atgttggttt tggatgaagc
      781 tgatgaaatg ttgaataaag gtttcaaaga gcagatttac gatgtataca ggtacctgcc
      841 tccagccaca caggtggttc tcatcagtgc cacgctgcca cacgagattc tggagatgac
      901 caacaagttc atgaccgacc caatccgcat cttggtgaaa cgtgatgaat tgactctgga
      961 aggcatcaag caatttttcg tggcagtgga gagggaagag tggaaatttg acactctgtg
     1021 tgacctctac gacacactga ccatcactca ggcggtcatc ttctgcaaca ccaaaagaaa
     1081 ggtggactgg ctgacggaga aaatgaggga agccaacttc actgtatcct caatgcatgg
     1141 agacatgccc cagaaagagc gggagtccat catgaaggag ttccggtcgg gcgccagccg
     1201 agtgcttatt tctacagatg tctgggccag ggggttggat gtccctcagg tgtccctcat
     1261 cattaactat gatctcccta ataacagaga attgtacata cacagaattg ggagatcagg
     1321 tcgatacggc cggaagggtg tggccattaa ctttgtaaag aatgacgaca tccgcatcct
     1381 cagagatatc gagcagtact attccactca gattgatgag atgccgatga acgttgctga
     1441 tcttatctga agcagcagat cagtgggatg agggagactg ttcacctgct gtgtactcct
     1501 gtttggaagt atttagatcc agattctact taatggggtt tatatggact ttcttctcat
     1561 aaatggcctg ccgtctccct tcctttgaag aggatatggg gattctgctc tcttttctta
     1621 tttacatgta aataatacat tgttctaagt ctttttcatt aaaaatttaa aacttttccc
     1681 at
//



Revised: July 5, 2002.
 
 


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1: NM_014390. Homo sapiens EBNA...[gi:7657430] Links  


LOCUS       p100                    3480 bp    mRNA    linear   PRI 02-NOV-2000
DEFINITION  Homo sapiens EBNA-2 co-activator (100kD) (p100), mRNA.
ACCESSION   NM_014390
VERSION     NM_014390.1  GI:7657430
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3480)
  AUTHORS   Tong,X., Drapkin,R., Yalamanchili,R., Mosialos,G. and Kieff,E.
  TITLE     The Epstein-Barr virus nuclear protein 2 acidic domain forms a
            complex with a novel cellular coactivator that can interact with
            TFIIE
  JOURNAL   Mol. Cell. Biol. 15 (9), 4735-4744 (1995)
  MEDLINE   95379816
   PUBMED   7651391
REFERENCE   2  (bases 1 to 3480)
  AUTHORS   Callebaut I and Mornon JP.
  TITLE     The human EBNA-2 coactivator p100: multidomain organization and
            relationship to the staphylococcal nuclease fold and to the tudor
            protein involved in Drosophila melanogaster development
  JOURNAL   Biochem. J. 321 (Pt 1), 125-132 (1997)
  MEDLINE   97157029
   PUBMED   9003410
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from U22055.1.
FEATURES             Location/Qualifiers
     source          1..3480
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31"
                     /cell_type="EBV transformed B cells (IB4 cells)"
     gene            1..3480
                     /gene="p100"
                     /note="P100"
                     /db_xref="LocusID:27044"
                     /db_xref="MIM:602181"
     CDS             268..2925
                     /gene="p100"
                     /function="associates with the EBV nuclear protein 2
                     acidic domain"
                     /codon_start=1
                     /product="EBNA-2 co-activator (100kD)"
                     /protein_id="NP_055205.1"
                     /db_xref="GI:7657431"
                     /db_xref="LocusID:27044"
                     /db_xref="MIM:602181"
                     /translation="MVLSGCAIIVRGQPRGGPPPERQINLSNIRAGNLARRAAATQPD
                     AKDTPDEPWAFPAREFLRKKLIGKEVCFTIENKTPQGREYGMIYLGKDTNGENIAESL
                     VAEGLATRREGMRANNPEQNRLSECEEQAKAAKKGMWSEGNGSHTIRDLKYTIENPRH
                     FVDSHHQKPVNAIIEHVRDGSVVRALLLPDYYLVTVMLSGIKCPTFRREADGSETPEP
                     FAAEAKFFTESRLLQRDVQIILESCHNQNIVGTILHPNGNITELLLKEGFARCVDWSI
                     AVYTRGAEKLRAAERFAKERRLRIWRDYVAPTANLDQKDKQFVAKVMQVLNADAIVVK
                     LNSGDYKTIHLSSIRPPRLEGENTQDKNKKLRPLYDIPYMFEAREFLRKKLIGKKVNV
                     TVDYIRPASPATETVPAFSERTCATVTIGGINIAEALVSKGLATVIRYRQDDDQRSSH
                     YDELLAAEARAIKNGKGLHSKKEVPIHRVADISGDTQKAKQFLPFLQRAGRSEAVVEY
                     VFSGSRLKLYLPKETCLITFLLAGIECPRGARNLPGLVQEGEPFSEEATLFTKELVLQ
                     REVEVEVESMDKAGNFIGWLHIDGANLSVLLVEHALSKVHFTAERSSYYKSLLSAEEA
                     AKQKKEKVWAHYEEQPVEEVMPVLEEKERSASYKPVFVTEITDDLHFYVQDVETGTQF
                     QKLMENMRNDIASHPPVEGSYAPRRGEFCIAKFVDGEWYRARVEKVESPAKIHVFYID
                     YGNREVLPSTRLGTLSPAFSTRVLPAQATEYAFAFIQVPQDDDARTDAVDSVVRDIQN
                     TQCLLNVEHLSAGCPHVTLQFADSKGDVGLGLVKEGLVMVEVRKEKQFQKVITEYLNA
                     QESAKSARLNLWRYGDFRADDADEFGYSR"
     misc_feature    268..690
                     /gene="p100"
                     /note="SNc; Region: Staphylococcal nuclease homologues"
                     /db_xref="CDD:SNc"
     misc_feature    409..690
                     /gene="p100"
                     /note="SNase; Region: Staphylococcal nuclease homologues"
                     /db_xref="CDD:pfam00565"
     misc_feature    769..1176
                     /gene="p100"
                     /note="SNc; Region: Staphylococcal nuclease homologues"
                     /db_xref="CDD:SNc"
     misc_feature    802..1170
                     /gene="p100"
                     /note="SNase; Region: Staphylococcal nuclease homologues"
                     /db_xref="CDD:pfam00565"
     misc_feature    1213..1677
                     /gene="p100"
                     /note="SNc; Region: Staphylococcal nuclease homologues"
                     /db_xref="CDD:SNc"
     misc_feature    1213..1677
                     /gene="p100"
                     /note="SNase; Region: Staphylococcal nuclease homologues"
                     /db_xref="CDD:pfam00565"
     misc_feature    1774..2172
                     /gene="p100"
                     /note="SNc; Region: Staphylococcal nuclease homologues"
                     /db_xref="CDD:SNc"
     misc_feature    1774..2169
                     /gene="p100"
                     /note="SNase; Region: Staphylococcal nuclease homologues"
                     /db_xref="CDD:pfam00565"
     misc_feature    2374..2544
                     /gene="p100"
                     /note="TUDOR; Region: Tudor domain"
                     /db_xref="CDD:TUDOR"
     misc_feature    2389..2541
                     /gene="p100"
                     /note="TUDOR; Region: Tudor domain"
                     /db_xref="CDD:pfam00567"
     misc_feature    2734..2877
                     /gene="p100"
                     /note="SNc; Region: Staphylococcal nuclease homologues"
                     /db_xref="CDD:SNc"
     misc_feature    2740..2871
                     /gene="p100"
                     /note="SNase; Region: Staphylococcal nuclease homologues"
                     /db_xref="CDD:pfam00565"
     variation       2256
                     /gene="p100"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:322825"
     variation       2609
                     /gene="p100"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:15855"
     variation       3195
                     /gene="p100"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3204548"
BASE COUNT      838 a    934 c    961 g    747 t
ORIGIN      
        1 ggcggagatc gcgtctcttt cgctccgtgt ccgctgctgc tcctgtgagc gcccggcgag
       61 tccgtcccgt ccaccgtccg cagctggtag ccagcctgcc cctcgcctcg actccctttc
      121 accaacaccg acacccacat tgacacctcc agtccggcca gccgctccac tcgttgcctt
      181 tgcatctcca cacatggcgt cctcgcgcag agcggcggct cctccggggg acccgcggtc
      241 cccaccgtgc agcggggcat catcaagatg gtcctctcag ggtgcgccat cattgtccga
      301 ggtcagcctc gtggtgggcc tcctcctgag cggcagatca acctcagcaa cattcgtgct
      361 ggaaatcttg ctcgccgggc agccgccaca caacctgatg caaaggatac ccctgatgag
      421 ccctgggcat ttccagctcg agagttcctt cgaaagaagc tgattgggaa ggaagtctgt
      481 ttcacgatag aaaacaagac tccccagggg cgagagtatg gcatgatcta ccttggaaaa
      541 gataccaatg gggaaaacat tgcagaatca ctggttgcag agggcttagc cacccggaga
      601 gaaggcatga gagctaataa tcctgagcag aaccggcttt cagaatgtga agaacaagca
      661 aaggcagcca agaaagggat gtggagtgag gggaacggtt cacatactat ccgggatctc
      721 aagtatacca ttgaaaaccc aaggcacttt gtggactcac accaccagaa gcctgttaat
      781 gctatcatcg agcatgtgcg ggacggcagt gtggtcaggg ccctgctcct cccagattac
      841 tacctggtta cagtcatgct gtcaggcatc aagtgcccaa cttttcgacg ggaagcagat
      901 ggcagtgaaa ctccagagcc ttttgctgca gaagccaaat ttttcactga gtcgcgactg
      961 cttcagagag atgttcagat cattctggag agctgccaca accagaacat tgtgggtacc
     1021 atccttcatc caaatggcaa catcacagag ctcctcctga aggaaggttt cgcacgctgt
     1081 gtggactggt cgattgcagt ttacacccgg ggcgcagaaa agctgagggc ggcagagagg
     1141 tttgccaaag agcgcaggct gagaatatgg agagactatg tggctcccac agctaatttg
     1201 gaccaaaagg acaagcagtt tgttgccaag gtgatgcagg ttctgaatgc tgatgccatt
     1261 gttgtgaagc tgaactcagg cgattacaag acgattcacc tgtccagcat ccgaccaccg
     1321 aggctggagg gggagaacac ccaggataag aacaagaaac tgcgtcccct gtatgacatt
     1381 ccttacatgt ttgaggcccg ggaatttctt cgaaaaaagc ttattgggaa gaaggtcaat
     1441 gtgacggtgg actacattag accagccagc ccagccacag agacagtgcc tgccttttca
     1501 gagcgtacct gtgccactgt caccattgga ggaataaaca ttgctgaggc tcttgtcagc
     1561 aaaggtctag ccacagtgat cagataccgg caggatgatg accagagatc atcacactac
     1621 gatgaactgc ttgctgcaga ggccagagct attaagaatg gcaaaggatt gcatagcaag
     1681 aaggaagtgc ctatccaccg tgttgcagat atatctgggg atacccaaaa agcaaagcag
     1741 ttcctgcctt ttcttcagcg ggcaggtcgt tctgaagctg tggtggaata cgtcttcagt
     1801 ggttctcgtc tcaaactcta tttgccaaag gaaacttgcc ttatcacctt cttgcttgca
     1861 ggcattgaat gccccagagg agcccgaaac ctcccaggct tggtgcagga aggagagccc
     1921 ttcagcgagg aagctacact tttcaccaag gaactggtgc tgcagcgaga ggtggaggtg
     1981 gaggtggaga gcatggacaa ggccggcaac tttatcggct ggctgcacat cgacggtgcc
     2041 aacctgtccg tcctgctggt ggagcacgcg ctctccaagg tccacttcac cgccgaacgc
     2101 agctcctact acaagtccct gctgtctgcc gaggaggccg caaagcagaa gaaagagaag
     2161 gtctgggccc actatgagga gcagcccgtg gaggaggtga tgccagtgct ggaggagaag
     2221 gagcgatctg ctagctacaa gcccgtgttt gtgaccgaga tcactgatga cctgcacttc
     2281 tacgtgcagg atgtggagac cggcacccag ttccagaagc tgatggagaa catgcgcaat
     2341 gacattgcca gtcacccccc tgtagagggc tcctatgccc cccgcagggg agagttctgc
     2401 attgccaaat ttgtagatgg agaatggtac cgtgcccgag tagagaaagt cgagtctcct
     2461 gccaaaatac atgtcttcta cattgactac ggcaacagag aggtcctgcc atccacccgc
     2521 ctgggtaccc tatcacctgc cttcagcact cgggtgctgc cagctcaagc cacggagtat
     2581 gccttcgcct tcatccaggt gccccaagat gatgatgccc gcacggacgc cgtggacagc
     2641 gtagttcggg atatccagaa cactcagtgc ctgctcaacg tggaacacct gagtgccggc
     2701 tgcccccatg tcaccctgca gtttgcagat tccaagggcg atgtggggct gggcttggtg
     2761 aaggaagggc tggtcatggt ggaggtgcgc aaggagaaac agttccagaa agtgatcaca
     2821 gaatacctga atgcccaaga gtcagccaag agcgccaggc tgaacctgtg gcgctatgga
     2881 gactttcgag ctgatgatgc agacgaattt ggctacagcc gctaaggagg ggatcgggtt
     2941 tggcccccag cccccgtcac gccagtccct cttcctctgc cgggagggtg ttttcaactc
     3001 caaaccccag agaggggttg tacattgggt ccagctttgc ttcagtgtgt ggaaatgtct
     3061 cgtggggtgg catcggggct gcggggtggg gaccccaagg ctttctgggg cagacccttg
     3121 tcctctggga tgatgggcac tgctatccac agtctctgcc agttggtttt atttggaggt
     3181 ttgtgggctt ttttaaaaaa aaaaaagtcc tcaaatcagg aagaaacatc aaagactatg
     3241 tcctagtgga gggagtaatc ctaacaccca ggctggccgc cagctggcac ctgcctctat
     3301 cccagactgc cctcgtccca gctctctgtc caactgttga ttatgtgatt tttctgatac
     3361 gtccattctc aaatgccagt gtgttcacat cttcgctctg gccagcccat tctgtattta
     3421 aagctttttg aggcccaata aaatagtacg tgctgctgca gcccttattg atcaaaaaaa
//



Revised: July 5, 2002.
 
 


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1: NM_005141. Homo sapiens fibr...[gi:11761630] Links  


LOCUS       FGB                     1918 bp    mRNA    linear   PRI 03-FEB-2001
DEFINITION  Homo sapiens fibrinogen, B beta polypeptide (FGB), mRNA.
ACCESSION   NM_005141
VERSION     NM_005141.1  GI:11761630
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1918)
  AUTHORS   Chung,D.W., Que,B.G., Rixon,M.W., Mace,M. Jr. and Davie,E.W.
  TITLE     Characterization of complementary deoxyribonucleic acid and genomic
            deoxyribonucleic acid for the beta chain of human fibrinogen
  JOURNAL   Biochemistry 22 (13), 3244-3250 (1983)
  MEDLINE   83283433
   PUBMED   6688356
REFERENCE   2  (bases 1 to 1918)
  AUTHORS   Chung,D.W., Rixon,M.W., Que,B.G. and Davie,E.W.
  TITLE     Cloning of fibrinogen genes and their cDNA
  JOURNAL   Ann. N. Y. Acad. Sci. 408, 449-456 (1983)
  MEDLINE   83254384
   PUBMED   6575700
REFERENCE   3  (bases 1 to 1918)
  AUTHORS   Doolittle,R.F.
  TITLE     Fibrinogen and fibrin
  JOURNAL   Annu. Rev. Biochem. 53, 195-229 (1984)
  MEDLINE   84305751
   PUBMED   6383194
REFERENCE   4  (bases 1 to 1918)
  AUTHORS   Huber,P., Dalmon,J., Courtois,G., Laurent,M., Assouline,Z. and
            Marguerie,G.
  TITLE     Characterization of the 5'-flanking region for the human fibrinogen
            beta gene
  JOURNAL   Nucleic Acids Res. 15 (4), 1615-1625 (1987)
  MEDLINE   87146483
   PUBMED   3029722
REFERENCE   5  (bases 1 to 1918)
  AUTHORS   Herrick,S., Blanc-Brude,O., Gray,A. and Laurent,G.
  TITLE     Fibrinogen
  JOURNAL   Int. J. Biochem. Cell Biol. 31 (7), 741-746 (1999)
  MEDLINE   99397060
   PUBMED   10467729
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from J00129.1 and M64983.1.
            Summary: The protein encoded by this gene is the beta component of
            fibrinogen, a blood-borne glycoprotein comprised of three pairs of
            nonidentical polypeptide chains. Following vascular injury,
            fibrinogen is cleaved by thrombin to form fibrin which is the most
            abundant component of blood clots. In addition, various cleavage
            products of fibrinogen and fibrin regulate cell adhesion and
            spreading, display vasoconstrictor and chemotactic activities, and
            are mitogens for several cell types. Mutations in this gene lead to
            several disorders, including afibrinogenemia, dysfibrinogenemia,
            hypodysfibrinogenemia and thrombotic tendency. S1 mapping studies
            on the 5'-flanking region of this gene revealed three transcription
            initiation points. Transcript variants utilizing alternative polyA
            signals have been described in the literature.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1918
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q28"
     gene            1..1918
                     /gene="FGB"
                     /db_xref="LocusID:2244"
                     /db_xref="MIM:134830"
     misc_feature    4
                     /gene="FGB"
                     /note="alternative transcription initiation site"
                     /evidence=experimental
     misc_feature    7
                     /gene="FGB"
                     /note="alternative transcription initiation site"
                     /evidence=experimental
     CDS             9..1484
                     /gene="FGB"
                     /note="fibrinogen, B beta polypeptide"
                     /codon_start=1
                     /product="fibrinogen, beta chain preproprotein"
                     /protein_id="NP_005132.1"
                     /db_xref="GI:11761631"
                     /db_xref="LocusID:2244"
                     /db_xref="MIM:134830"
                     /translation="MKRMVSWSFHKLKTMKHLLLLLLCVFLVKSQGVNDNEEGFFSAR
                     GHRPLDKKREEAPSLRPAPPPISGGGYRARPAKAAATQKKVERKAPDAGGCLHADPDL
                     GVLCPTGCQLQEALLQQERPIRNSVDELNNNVEAVSQTSSSSFQYMYLLKDLWQKRQK
                     QVKDNENVVNEYSSELEKHQLYIDETVNSNIATNLRVLRSILENLRSKIQKLESDVSA
                     QMEYCRTPCTVSCNIPVVSGKECEEIIRKGGETSEMYLIQPDSSVKPYRVYCDMNTEN
                     GGWTVIQNRQDGSVDFGRKWDPYKQGFGNVATNTDGKNYCGLPGEYWLGNDKISQLTR
                     MGPTELLIEMEDWKGDKVKAHYGGFTVQNEANKYQISVNKYRGTAGNALMDGASQLMG
                     ENRTMTIHNGMFFSTYDRDNDGWLTSDPRKQCSKEDGGGWWYNRCHAANPNGRYYWGG
                     QYTWDMAKHGTDDGVVWMNWKGSWYSMRKMSMKIRPFFPQQ"
     sig_peptide     9..98
                     /gene="FGB"
     mat_peptide     99..140
                     /gene="FGB"
                     /product="fibrinopeptide B"
                     /note="processed active peptide"
     mat_peptide     141..1481
                     /gene="FGB"
                     /product="fibrinogen, beta chain"
                     /note="thrombin cleavage product"
     misc_feature    348..674
                     /gene="FGB"
                     /note="SynN; Region: Syntaxin N-terminal domain"
                     /db_xref="CDD:SynN"
     misc_feature    714..1469
                     /gene="FGB"
                     /note="FBG; Region: Fibrinogen-related domains (FReDs)"
                     /db_xref="CDD:FBG"
     misc_feature    717..1469
                     /gene="FGB"
                     /note="fibrinogen_C; Region: Fibrinogen beta and gamma
                     chains"
                     /db_xref="CDD:pfam00147"
     misc_feature    99..1481
                     /gene="FGB"
                     /note="encodes fibrinogen, beta chain proprotein"
     variation       575
                     /gene="FGB"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:6056"
     variation       582
                     /gene="FGB"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1043726"
     variation       614
                     /gene="FGB"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1043727"
     variation       1121
                     /gene="FGB"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:6057"
     variation       1133
                     /gene="FGB"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:4681"
     variation       1441
                     /gene="FGB"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:4220"
     polyA_signal    1563..1568
                     /gene="FGB"
     polyA_site      1584
                     /gene="FGB"
                     /evidence=experimental
     polyA_signal    1632..1637
                     /gene="FGB"
     polyA_site      1650
                     /gene="FGB"
                     /evidence=experimental
     polyA_site      1653
                     /gene="FGB"
                     /evidence=experimental
     polyA_signal    1896..1901
                     /gene="FGB"
     polyA_site      1915
                     /gene="FGB"
                     /evidence=experimental
     polyA_site      1918
                     /gene="FGB"
                     /evidence=experimental
BASE COUNT      624 a    355 c    440 g    499 t
ORIGIN      
        1 aagtctacat gaaaaggatg gtttcttgga gcttccacaa acttaaaacc atgaaacatc
       61 tattattgct actattgtgt gtttttctag ttaagtccca aggtgtcaac gacaatgagg
      121 agggtttctt cagtgcccgt ggtcatcgac cccttgacaa gaagagagaa gaggctccca
      181 gcctgaggcc tgccccaccg cccatcagtg gaggtggcta tcgggctcgt ccagccaaag
      241 cagctgccac tcaaaagaaa gtagaaagaa aagcccctga tgctggaggc tgtcttcacg
      301 ctgacccaga cctgggggtg ttgtgtccta caggatgtca gttgcaagag gctttgctac
      361 aacaggaaag gccaatcaga aatagtgttg atgagttaaa taacaatgtg gaagctgttt
      421 cccagacctc ctcttcttcc tttcagtaca tgtatttgct gaaagacctg tggcaaaaga
      481 ggcagaagca agtaaaagat aatgaaaatg tagtcaatga gtactcctca gaactggaaa
      541 agcaccaatt atatatagat gagactgtga atagcaatat cgcaactaac cttcgtgtgc
      601 ttcgttcaat cctagaaaac ctgagaagca aaatacaaaa gttagaatct gatgtctcag
      661 ctcaaatgga atattgtcgc accccatgca ctgtcagttg caatattcct gtggtgtctg
      721 gcaaagaatg tgaggaaatt atcaggaaag gaggtgaaac atctgaaatg tatctcattc
      781 aacctgacag ttctgtcaaa ccgtatagag tatactgtga catgaataca gaaaatggag
      841 gatggacagt gattcagaac cgtcaagacg gtagtgttga ctttggcagg aaatgggatc
      901 catataaaca gggatttgga aatgttgcaa ccaacacaga tgggaagaat tactgtggcc
      961 taccaggtga atattggctt ggaaatgata aaattagcca gcttaccagg atgggaccca
     1021 cagaactttt gatagaaatg gaggactgga aaggagacaa agtaaaggct cactatggag
     1081 gattcactgt acagaatgaa gccaacaaat accagatctc agtgaacaaa tacagaggaa
     1141 cagccggtaa tgccctcatg gatggagcat ctcagctgat gggagaaaac aggaccatga
     1201 ccattcacaa cggcatgttc ttcagcacgt atgacagaga caatgacggc tggttaacat
     1261 cagatcccag aaaacagtgt tctaaagaag acggtggtgg atggtggtat aatagatgtc
     1321 atgcagccaa tccaaacggc agatactact ggggtggaca gtacacctgg gacatggcaa
     1381 agcatggcac agatgatggt gtagtatgga tgaattggaa ggggtcatgg tactcaatga
     1441 ggaagatgag tatgaagatc aggcccttct tcccacagca atagtcccca atacgtagat
     1501 ttttgctctt ctgtatgtga caacattttt gtacattatg ttattggaat tttctttcat
     1561 acattatatt cctctaaaac tctcaagcag acgtgagtgt gactttttga aaaaagtata
     1621 ggataaatta cattaaaata gcacatgatt ttcttttgtt ttcttcattt ctcttgctca
     1681 ccaagaagta acaaaagtat agttttgaca gagttggtgt tcataatttc agttctagtt
     1741 gattgcgaga attttcaaat aaggaagagg ggtcttttat ccttgtcgta ggaaaaccat
     1801 gacggaaagg aaaaactgat gtttaaaagt ccacttttaa aactatattt atttatgtag
     1861 gatctgtcaa agaaaacttc caaaaagatt tattaattaa accagactct gttgcaat
//



Revised: July 5, 2002.
 
 


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1: NM_019857. Homo sapiens CTP ...[gi:21361828] Links  


LOCUS       CTPS2                   3812 bp    mRNA    linear   PRI 10-JUN-2002
DEFINITION  Homo sapiens CTP synthase II (CTPS2), mRNA.
ACCESSION   NM_019857
VERSION     NM_019857.2  GI:21361828
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3812)
  AUTHORS   Isogai,T. and Otsuki,T.
  TITLE     Homo sapiens CTP synthase II (CTPS2), mRNA
  JOURNAL   Unpublished (2000)
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AK024070.1.
            On Jun 10, 2002 this sequence version replaced gi:9789918.
FEATURES             Location/Qualifiers
     source          1..3812
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22"
                     /clone="Y79AA1002416"
                     /cell_line="Y79"
                     /cell_type="retinoblastoma"
                     /clone_lib="Y79AA1"
                     /note="cloning vector: pME18SFL3"
     gene            1..3812
                     /gene="CTPS2"
                     /db_xref="LocusID:56474"
                     /db_xref="MIM:300380"
     CDS             239..1999
                     /gene="CTPS2"
                     /note="CTP synthetase type 2"
                     /codon_start=1
                     /product="CTP synthase II"
                     /protein_id="NP_062831.2"
                     /db_xref="GI:21361829"
                     /db_xref="LocusID:56474"
                     /db_xref="MIM:300380"
                     /translation="MKYILVTGGVISGIGKGIIASSIGTILKSCGLRVTAIKIDPYIN
                     IDAGTFSPYEHGEVFVLNDGGEVDLDLGNYERFLDINLYKDNNITTGKIYQHVINKER
                     RGDYLGKTVQVVPHITDAVQEWVMNQAKVPVDGNKEEPQICVIELGGTIGDIEGMPFV
                     EAFRQFQFKAKRENFCNIHVSLVPQLSATGEQKTKPTQNSVRALRGLGLSPDLIVCRS
                     SSPIEMAVKEKISMFCHVNPEQVICIHDVSSTYRVPVLLEEQSIVKYFKERLHLPIGD
                     SASNLLFKWRNMADRYERLQKICSIALVGKYTKLRDCYASVFKALEHSALAINHKLNL
                     MYIDSIDLEKITETEDPVKFHEAWQKLCKADGILVPGGFGIRGTLGKLQAISWARTKK
                     IPFLGVCLGMQLAVIEFARNCLNLKDADSTEFRPNAPVPLVIDMPEHNPGNLGGTMRL
                     GIRRTVFKTENSILRKLYGDVPFIEERHRHRFEVNPNLIKQFEQNDLSFVGQDVDGDR
                     MEIIELANHPYFVGVQFHPEFSSRPMKPSPPYLGLLLAATGNLNAYLQQGCKLSSSDR
                     YSDASDDSFSEPRIAELEIS"
     misc_feature    1166..1852
                     /gene="CTPS2"
                     /note="GATase; Region: Glutamine amidotransferase class-I"
                     /db_xref="CDD:pfam00117"
     variation       1837
                     /gene="CTPS2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1048392"
     variation       complement(3647..3648)
                     /allele="-"
                     /allele="TT"
                     /db_xref="dbSNP:16656"
     variation       complement(3667)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1219"
BASE COUNT     1064 a    786 c    869 g   1093 t
ORIGIN      
        1 tttccttttc cttctctcct gagcgctcct gcagttcctg gggcgtagta ggggatccac
       61 aagcgtttgt gaccagtgaa gttctttaca agggtgagat ctgcacggga ggacccgagc
      121 gagggtctcg gcttgccagg aagccggggt tccccgggaa gcgtggagtt cacccgcgca
      181 ctcgaagtgc ctttgcaaaa ttatatctgg gtgttggcac ccagccacta ttctgccaat
      241 gaagtacatc ctggtcacgg gtggggtcat ctcaggcatt ggtaaaggga tcattgccag
      301 cagcattgga acgattctaa aatcatgtgg actccgagtt actgccataa aaatcgaccc
      361 ctatattaac atcgatgctg gcactttttc accttatgaa cacggtgaag tcttcgtctt
      421 aaatgatggt ggagaagttg atttagacct tggaaattat gaaagatttt tggatattaa
      481 tctttataaa gacaacaata tcaccacggg gaagatatat cagcatgtga tcaataaaga
      541 gaggcgtggt gattacctgg ggaaaacagt gcaagttgtc cctcacatta ctgatgctgt
      601 ccaggagtgg gttatgaatc aagccaaggt gccggtggat ggtaataagg aagagcccca
      661 aatatgcgtt attgagctgg gaggcaccat tggagacatc gaaggaatgc cgtttgtgga
      721 ggcgtttaga caattccagt ttaaggcgaa aagagagaat ttctgtaata tccacgttag
      781 ccttgtccca cagctcagtg ctaccggaga acaaaaaacc aaacccaccc aaaacagcgt
      841 ccgcgcactg aggggtttag gcctgtctcc agatctgatt gtctgccgaa gttcatcgcc
      901 cattgagatg gccgtgaagg agaagatttc tatgttttgt cacgtgaacc ctgaacaggt
      961 catatgtatc catgatgttt cttccacata ccgagttcct gtgcttttag aggaacaaag
     1021 cattgtgaaa tattttaagg agagattgca cctgcccatc ggtgattctg caagtaattt
     1081 gctttttaag tggagaaata tggctgacag gtatgaaagg ttacagaaaa tatgctccat
     1141 agccctggtt ggcaaataca ccaagctcag agactgctac gcctctgtgt tcaaagccct
     1201 ggaacactca gccctggcca tcaaccacaa gttgaatctg atgtacatag actccattga
     1261 tctggagaag atcactgaaa ccgaggaccc tgtgaaattt catgaagctt ggcagaagct
     1321 atgcaaagct gatggtattc ttgtgcctgg aggctttgga atcagaggaa cattgggaaa
     1381 actccaggcg atttcttggg caaggacaaa gaagattcct tttctgggag tttgtcttgg
     1441 gatgcaacta gcagtgatag agtttgcaag aaactgcctt aacttgaaag atgctgattc
     1501 cacagagttt aggccaaatg ccccagttcc tctggtgatt gatatgcccg agcacaaccc
     1561 tggcaatttg ggaggaacaa tgagactggg aataagaaga actgttttca aaactgaaaa
     1621 ttcaatatta aggaaacttt atggtgatgt tccttttata gaagaaagac acagacatcg
     1681 gttcgaggta aaccctaacc tgatcaaaca atttgagcag aatgacttaa gttttgtagg
     1741 tcaggatgtc gatggagaca ggatggaaat cattgaactg gcaaatcatc cttattttgt
     1801 tggtgtccag ttccatcctg agttttcttc taggccgatg aagccttccc ctccgtatct
     1861 ggggctgtta cttgcagcaa ctgggaacct gaatgcctac ttgcaacagg gttgcaaact
     1921 gtcttccagt gatagataca gtgatgccag tgatgacagc ttttcagagc caaggatagc
     1981 tgagttggaa ataagctgaa atgaatacat gactgggaat aatggggact gcctgtgagg
     2041 cctctgaaat aattgaaggc aagatgaagg aactatctga agaaatcact acactcttag
     2101 agaatccctc tgttctccag caaacatggg atgtaaagcc tcacagggaa tctgataata
     2161 catacttctg tcaaccagaa ccagaggggt agttttcttt tccctccaga ggcagccttt
     2221 ggtacttaaa atatctgtag ctgattaaat ttttcccaac aacctcactg gggagaaagt
     2281 gtgttcatgt tttgtccagc ggatcaggat gttaggatga cgagcaagag tccaggtcac
     2341 tgtgcctttg ctgtgttgta tggaaaggat ggcagggaac atgctgtaag taattttgag
     2401 taagaaaatg agtcactgtg ttacctggaa ctcagccaca gatttgtgtg tggtccaaga
     2461 tcattgcagt ttctcaccct gtttatttcc tggtaaaagt aaaattgaat aggtccaaga
     2521 cttgggggtg gcaagtaagg ctttgcctca ggcacaaaat ttaagggggc tccaaaaaac
     2581 tcaggaatca agatcagcaa tacagtctga gtatccctta tgtgaaatgc ttggggctag
     2641 aagtgttttg aatttcagat tttggaatat ttgcatatac atgcgatatc ttggggatga
     2701 gactcaagac taaacatgaa attcatttat gcttcatata caccttatat acatagccta
     2761 aaggtaattt gatacaatat tttaaataat tttgtgcatg aaacaaagtt tcgactgcat
     2821 tttgactgtg atttctggca tgagatcagt tatggaattt tccacttcta gcgtcatgtt
     2881 ggcattcaga aattttgaaa ttttggagca ttttggattt tcagattagg gatgctcaac
     2941 ctgtatatat attttttaat cgacgtgaaa ttcacgtaac atagaattaa ccattttgaa
     3001 gtgaacaatt tggttgcatt cactgatgtt gagcaaccac cacctttaac tatttccaaa
     3061 acattttcat cactccaaaa taaatgcctg tacacactag cagtcactcc ctatcttccc
     3121 ctccacctgt ccgctggcaa ccactgatct cctttttatt tctgtggctt tttctattct
     3181 ggatatttca tataagtgga attacacaat atatgtggtc ttttgtgtct ggcttcttct
     3241 gagacagtag gaagggggct tggctttggc tcacccccac tagagcattt tttcatgcat
     3301 tcccactgat cacaaaaccc atactactac ctcattgaca ccatacctgc taacctcgag
     3361 gctttagtca tacaaagaag atggcctttc tgtattgttc ttctgtgctc tcataatgct
     3421 taaccatgtc ttttacttaa acaattccag gaactggcct taggagatcc aaatagggaa
     3481 ccaagattgc agagtgtccc atcttgggag ggaatgctga ataattaatt gatttacagc
     3541 cttgttgccg ctggccagac caccaggtgg cccattactc gagatgatca tcacaaccag
     3601 atgatgctaa cctatatcct ctacccttcg cgtgctttgt ctgggaagtc ttttggcccc
     3661 atgtcagttt ctattgcatt gagagcccaa gagcccctgg tcagtcaggc ttccatttag
     3721 catggcgttt gcaaggttta cccatgttgt agcatgtgtc agaatttcat tcctttctat
     3781 ggctgaataa aattccattg tatgaatata cc
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_004045. Homo sapiens ATX1...[gi:4757803] Links  


LOCUS       ATOX1                    502 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens ATX1 antioxidant protein 1 homolog (yeast) (ATOX1),
            mRNA.
ACCESSION   NM_004045
VERSION     NM_004045.1  GI:4757803
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 502)
  AUTHORS   Klomp,L.W., Lin,S.J., Yuan,D.S., Klausner,R.D., Culotta,V.C. and
            Gitlin,J.D.
  TITLE     Identification and functional expression of HAH1, a novel human
            gene involved in copper homeostasis
  JOURNAL   J. Biol. Chem. 272 (14), 9221-9226 (1997)
  MEDLINE   97238857
   PUBMED   9083055
REFERENCE   2  (bases 1 to 502)
  AUTHORS   Hung,I.H., Casareno,R.L., Labesse,G., Mathews,F.S. and Gitlin,J.D.
  TITLE     HAH1 is a copper-binding protein with distinct amino acid residues
            mediating copper homeostasis and antioxidant defense
  JOURNAL   J. Biol. Chem. 273 (3), 1749-1754 (1998)
  MEDLINE   98104166
   PUBMED   9430722
REFERENCE   3  (bases 1 to 502)
  AUTHORS   Hamza,I., Schaefer,M., Klomp,L.W. and Gitlin,J.D.
  TITLE     Interaction of the copper chaperone HAH1 with the Wilson disease
            protein is essential for copper homeostasis
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 96 (23), 13363-13368 (1999)
  MEDLINE   20027553
   PUBMED   10557326
REFERENCE   4  (bases 1 to 502)
  AUTHORS   Boultwood,J., Strickson,A.J., Jabs,E.W., Cheng,J.F., Fidler,C. and
            Wainscoat,J.S.
  TITLE     Physical mapping of the human ATX1 homologue (HAH1) to the critical
            region of the 5q- syndrome within 5q32, and immediately adjacent to
            the SPARC gene
  JOURNAL   Hum. Genet. 106 (1), 127-129 (2000)
  MEDLINE   20435072
   PUBMED   10982193
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U70660.1.
            Summary: The protein encoded by this gene plays a role in copper
            homeostasis by binding and transporting cytosolic copper to ATPase
            proteins in the trans-Golgi network for later incorporation to the
            ceruloplasmin.  This protein also functions as an antioxidant
            against superoxide and hydrogen peroxide, and therefore, may play a
            significant role in cancer carcinogenesis.  Because of its
            cytogenetic location, this gene represents a candidate gene for
            5q-syndrome.
FEATURES             Location/Qualifiers
     source          1..502
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32"
     gene            1..502
                     /gene="ATOX1"
                     /note="ATX1; HAH1"
                     /db_xref="LocusID:475"
                     /db_xref="MIM:602270"
     CDS             114..320
                     /gene="ATOX1"
                     /note="human ATX1 homolog"
                     /codon_start=1
                     /product="ATX1 antioxidant protein 1 homolog"
                     /protein_id="NP_004036.1"
                     /db_xref="GI:4757804"
                     /db_xref="LocusID:475"
                     /db_xref="MIM:602270"
                     /translation="MPKHEFSVDMTCGGCAEAVSRVLNKLGGVKYDIDLPNKKVCIES
                     EHSMDTLLATLKKTGKTVSYLGLE"
     misc_feature    126..242
                     /gene="ATOX1"
                     /note="Region: pfam00403, HMA, Heavy-metal-associated
                     domain"
     variation       431
                     /gene="ATOX1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:10723"
     polyA_signal    479..484
                     /gene="ATOX1"
BASE COUNT      102 a    149 c    142 g    109 t
ORIGIN      
        1 ctgtcgccct gcacggtgac ccgcgtgtgc gaggccttca tggccaggat ccgggtggag
       61 aggcgctgct gacaccgccg ccacaccgcc gccacaccgc cgctgcctca gtcatgccga
      121 agcacgagtt ctctgtggac atgacctgtg gaggctgtgc tgaagctgtc tctcgggtcc
      181 tcaataagct tggaggagtt aagtatgaca ttgacctgcc caacaagaag gtctgcattg
      241 aatctgagca cagcatggac actctgcttg caaccctgaa gaaaacagga aagactgttt
      301 cctaccttgg ccttgagtag caggggcctg gtccccacag cccacaggat ggaccaaagg
      361 gggcaggatg ctgatcctcc cgctggcttc cagacagacc tgggacttgg cagtcatgcc
      421 gggtgatcgt gttcctgcgg agaccctcag ttgtcctatt ccttcctagc ttccctgcaa
      481 taaatcaagc tgcttttgtt gg
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001160. Homo sapiens apop...[gi:4502122] Links  


LOCUS       APAF1                   7042 bp    mRNA    linear   PRI 03-FEB-2001
DEFINITION  Homo sapiens apoptotic protease activating factor (APAF1),
            transcript variant 2, mRNA.
ACCESSION   NM_001160
VERSION     NM_001160.1  GI:4502122
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7042)
  AUTHORS   Zou,H., Henzel,W.J., Liu,X., Lutschg,A. and Wang,X.
  TITLE     Apaf-1, a human protein homologous to C. elegans CED-4,
            participates in cytochrome c-dependent activation of caspase-3
  JOURNAL   Cell 90 (3), 405-413 (1997)
  MEDLINE   97410306
   PUBMED   9267021
REFERENCE   2  (bases 1 to 7042)
  AUTHORS   Ishikawa,K., Nagase,T., Nakajima,D., Seki,N., Ohira,M.,
            Miyajima,N., Tanaka,A., Kotani,H., Nomura,N. and Ohara,O.
  TITLE     Prediction of the coding sequences of unidentified human genes.
            VIII. 78 new cDNA clones from brain which code for large proteins
            in vitro
  JOURNAL   DNA Res. 4 (5), 307-313 (1997)
  MEDLINE   98116655
   PUBMED   9455477
REFERENCE   3  (bases 1 to 7042)
  AUTHORS   Smith,T.F., Gaitatzes,C., Saxena,K. and Neer,E.J.
  TITLE     The WD repeat: a common architecture for diverse functions
  JOURNAL   Trends Biochem. Sci. 24 (5), 181-185 (1999)
  MEDLINE   99257314
   PUBMED   10322433
REFERENCE   4  (bases 1 to 7042)
  AUTHORS   Saleh,A., Srinivasula,S.M., Acharya,S., Fishel,R. and Alnemri,E.S.
  TITLE     Cytochrome c and dATP-mediated oligomerization of Apaf-1 is a
            prerequisite for procaspase-9 activation
  JOURNAL   J. Biol. Chem. 274 (25), 17941-17945 (1999)
  MEDLINE   99292765
   PUBMED   10364241
REFERENCE   5  (bases 1 to 7042)
  AUTHORS   Hahn,C., Hirsch,B., Jahnke,D., Durkop,H. and Stein,H.
  TITLE     Three new types of Apaf-1 in mammalian cells
  JOURNAL   Biochem. Biophys. Res. Commun. 261 (3), 746-749 (1999)
  MEDLINE   99373149
   PUBMED   10441496
REFERENCE   6  (bases 1 to 7042)
  AUTHORS   Kim,H., Jung,Y.K., Kwon,Y.K. and Park,S.H.
  TITLE     Assignment of apoptotic protease activating factor-1 gene (APAF1)
            to human chromosome band 12q23 by fluorescence in situ
            hybridization
  JOURNAL   Cytogenet. Cell Genet. 87 (3-4), 252-253 (1999)
  MEDLINE   20169199
   PUBMED   10702682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF013263.1.
            Summary: Caspases are a highly conserved family of cysteine
            proteases that cleave their substrates after an aspartate residue.
            They play fundamental roles in the initiation and execution of
            apoptosis. The gene described here encodes a WD-repeat containing
            protein. WD-repeat-containing proteins are those that contain 4 or
            more copies of the WD-repeat (tryptophan-aspartate repeat), a
            sequence motif approximately 31 amino acids long, that encodes a
            structural repeat. Activation of procaspase-9 by the APAF1 gene in
            the cytochrome c/dATP-dependent pathway requires proteolytic
            cleavage to generate the mature caspase molecule. It was shown that
            a truncated APAF1 variant lacking the WD-repeat domain makes APAF1
            constitutively active and capable of processing procaspase-9
            independent of cytochrome c and dATP. Moreover the truncated
            protein was unable to release the mature caspase-9 from the complex
            raising the possibility that the WD-40 repeats play a role in the
            release of mature caspase-9.
            Transcript Variant: Exon 17A is not included in this isoform. It
            lacks one WD-repeat domain and is the constitutively active shorter
            isoform.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..7042
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23"
     gene            1..7042
                     /gene="APAF1"
                     /note="CED4"
                     /db_xref="LocusID:317"
                     /db_xref="MIM:602233"
     variation       249
                     /gene="APAF1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3741810"
     variation       249
                     /gene="APAF1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2118851"
     variation       390
                     /gene="APAF1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3741811"
     variation       390
                     /gene="APAF1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:2118852"
     CDS             578..4162
                     /gene="APAF1"
                     /function="cytochrome c-dependent activation of caspase-3"
                     /note="isoform b is encoded by transcript variant 2;
                     apoptotic protease activating factor 1"
                     /codon_start=1
                     /product="apoptotic protease activating factor isoform b"
                     /protein_id="NP_001151.1"
                     /db_xref="GI:4502123"
                     /db_xref="LocusID:317"
                     /db_xref="MIM:602233"
                     /translation="MDAKARNCLLQHREALEKDIKTSYIMDHMISDGFLTISEEEKVR
                     NEPTQQQRAAMLIKMILKKDNDSYVSFYNALLHEGYKDLAALLHDGIPVVSSSSVRTV
                     LCEGGVPQRPVVFVTRKKLVNAIQQKLSKLKGEPGWVTIHGMAGCGKSVLAAEAVRDH
                     SLLEGCFPGGVHWVSVGKQDKSGLLMKLQNLCTRLDQDESFSQRLPLNIEEAKDRLRI
                     LMLRKHPRSLLILDDVWDSWVLKAFDSQCQILLTTRDKSVTDSVMGPKYVVPVESSLG
                     KEKGLEILSLFVNMKKADLPEQAHSIIKECKGSPLVVSLIGALLRDFPNRWEYYLKQL
                     QNKQFKRIRKSSSYDYEALDEAMSISVEMLREDIKDYYTDLSILQKDVKVPTKVLCIL
                     WDMETEEVEDILQEFVNKSLLFCDRNGKSFRYYLHDLQVDFLTEKNCSQLQDLHKKII
                     TQFQRYHQPHTLSPDQEDCMYWYNFLAYHMASAKMHKELCALMFSLDWIKAKTELVGP
                     AHLIHEFVEYRHILDEKDCAVSENFQEFLSLNGHLLGRQPFPNIVQLGLCEPETSEVY
                     QQAKLQAKQEVDNGMLYLEWINKKNITNLSRLVVRPHTDAVYHACFSEDGQRIASCGA
                     DKTLQVFKAETGEKLLEIKAHEDEVLCCAFSTDDRFIATCSVDKKVKIWNSMTGELVH
                     TYDEHSEQVNCCHFTNSSHHLLLATGSSDCFLKLWDLNQKECRNTMFGHTNSVNHCRF
                     SPDDKLLASCSADGTLKLWDATSANERKSINVKQFFLNLEDPQEDMEVIVKCCSWSAD
                     GARIMVAAKNKIFLWNTDSRSKVADCRGHLSWVHGVMFSPDGSSFLTSSDDQTIRLWE
                     TKKVCKNSAVMLKQEVDVVFQENEVMVLAVDHIRRLQLINGRTGQIDYLTEAQVSCCC
                     LSPHLQYIAFGDENGAIEILELVNNRIFQSRFQHKKTVWHIQFTADEKTLISSSDDAE
                     IQVWNWQLDKCIFLRGHQETVKDFRLLKNSRLLSWSFDGTVKVWNIITGNKEKDFVCH
                     QGTVLSCDISHDATKFSSTSADKTAKIWSFDLLLPLHELRGHNGCVRCSAFSVDSTLL
                     ATGDDNGEIRIWNVSNGELLHLCAPLSEEGAATHGGWVTDLCFSPDGKMLISAGGYIK
                     WWNVVTGESSQTFYTNGTNLKKIHVSPDFKTYVTVDNLGILYILQTLE"
     misc_feature    581..844
                     /gene="APAF1"
                     /note="CARD; Region: Caspase recruitment domain"
                     /db_xref="CDD:pfam00619"
     misc_feature    854..1786
                     /gene="APAF1"
                     /note="NB-ARC; Region: NB-ARC domain"
                     /db_xref="CDD:pfam00931"
     misc_feature    932..1081
                     /gene="APAF1"
                     /note="RNA_helicase; Region: RNA helicase"
                     /db_xref="CDD:pfam00910"
     variation       6840
                     /gene="APAF1"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:12159"
     variation       6844..6845
                     /gene="APAF1"
                     /allele="-"
                     /allele="T"
                     /db_xref="dbSNP:3834481"
     polyA_signal    6999..7004
                     /gene="APAF1"
     polyA_site      7028
                     /gene="APAF1"
BASE COUNT     1985 a   1355 c   1580 g   2122 t
ORIGIN      
        1 aagaagaggt agcgagtgga cgtgactgct ctatcccggg caaaagggat agaaccagag
       61 gtggggagtc tgggcagtcg gcgacccgcg aagacttgag gtgccgcagc ggcatccgga
      121 gtagcgccgg gctccctccg gggtgcagcc gccgtcgggg gaagggcgcc acaggccggg
      181 aagacctcct ccctttgtgt ccagtagtgg ggtccaccgg agggcggccc gtgggccggg
      241 cctcaccgcg gcgctccggg actgtggggt caggctgcgt tgggtggacg cccacctcgc
      301 caaccttcgg aggtccctgg gggtcttcgt gcgccccggg gctgcagaga tccaggggag
      361 gcgcctgtga ggcccggacc tgccccgggg cgaagggtat gtggcgagac agagccctgc
      421 acccctaatt cccggtggaa aactcctgtt gccgtttccc tccaccggcc tggagtctcc
      481 cagtcttgtc ccggcagtgc cgccctcccc actaagacct aggcgcaaag gcttggctca
      541 tggttgacag ctcagagaga gaaagatctg agggaagatg gatgcaaaag ctcgaaattg
      601 tttgcttcaa catagagaag ctctggaaaa ggacatcaag acatcctaca tcatggatca
      661 catgattagt gatggatttt taacaatatc agaagaggaa aaagtaagaa atgagcccac
      721 tcaacagcaa agagcagcta tgctgattaa aatgatactt aaaaaagata atgattccta
      781 cgtatcattc tacaatgctc tactacatga aggatataaa gatcttgctg cccttctcca
      841 tgatggcatt cctgttgtct cttcttccag tgtaaggaca gtcctgtgtg aaggtggagt
      901 accacagagg ccagttgttt ttgtcacaag gaagaagctg gtgaatgcaa ttcagcagaa
      961 gctctccaaa ttgaaaggtg aaccaggatg ggtcaccata catggaatgg caggctgtgg
     1021 gaagtctgta ttagctgcag aagctgttag agatcattcc cttttagaag gttgtttccc
     1081 agggggagtg cattgggttt cagttgggaa acaagacaaa tctgggcttc tgatgaaact
     1141 gcagaatctt tgcacacggt tggatcagga tgagagtttt tcccagaggc ttccacttaa
     1201 tattgaagag gctaaagacc gtctccgcat tctgatgctt cgcaaacacc caaggtctct
     1261 cttgatcttg gatgatgttt gggactcttg ggtgttgaaa gcttttgaca gtcagtgtca
     1321 gattcttctt acaaccagag acaagagtgt tacagattca gtaatgggtc ctaaatatgt
     1381 agtccctgtg gagagttcct taggaaagga aaaaggactt gaaattttat ccctttttgt
     1441 taatatgaag aaggcagatt tgccagaaca agctcatagt attataaaag aatgtaaagg
     1501 ctctcccctt gtagtatctt taattggtgc acttttacgt gattttccca atcgctggga
     1561 gtactacctc aaacagcttc agaataagca gtttaagaga ataaggaaat cttcgtctta
     1621 tgattatgag gctctagatg aagccatgtc tataagtgtt gaaatgctca gagaagacat
     1681 caaagattat tacacagatc tttccatcct tcagaaggac gttaaggtgc ctacaaaggt
     1741 gttatgtatt ctctgggaca tggaaactga agaagttgaa gacatactgc aggagtttgt
     1801 aaataagtct cttttattct gtgatcggaa tggaaagtcg tttcgttatt atttacatga
     1861 tcttcaagta gattttctta cagagaagaa ttgcagccag cttcaggatc tacataagaa
     1921 gataatcact cagtttcaga gatatcacca gccgcatact ctttcaccag atcaggaaga
     1981 ctgtatgtat tggtacaact ttctggccta tcacatggcc agtgccaaga tgcacaagga
     2041 actttgtgct ttaatgtttt ccctggattg gattaaagca aaaacagaac ttgtaggccc
     2101 tgctcatctg attcatgaat ttgtggaata cagacatata ctagatgaaa aggattgtgc
     2161 agtcagtgag aattttcagg agtttttatc tttaaatgga caccttcttg gacgacagcc
     2221 atttcctaat attgtacaac tgggtctctg tgagccggaa acttcagaag tttatcagca
     2281 agctaagctg caggccaagc aggaggtcga taatggaatg ctttacctgg aatggataaa
     2341 caaaaaaaac atcacgaatc tttcccgctt agttgtccgc ccccacacag atgctgttta
     2401 ccatgcctgc ttttctgagg atggtcagag aatagcttct tgtggagctg ataaaacctt
     2461 acaggtgttc aaagctgaaa caggagagaa acttctagaa atcaaggctc atgaggatga
     2521 agtgctttgt tgtgcattct ctacagatga cagatttata gcaacctgct cagtggataa
     2581 aaaagtgaag atttggaatt ctatgactgg ggaactagta cacacctatg atgagcactc
     2641 agagcaagtc aattgctgcc atttcaccaa cagtagtcat catcttctct tagccactgg
     2701 gtcaagtgac tgcttcctca aactttggga tttgaatcaa aaagaatgtc gaaataccat
     2761 gtttggtcat acaaattcag tcaatcactg cagattttca ccagatgata agcttttggc
     2821 tagttgttca gctgatggaa ccttaaagct ttgggatgcg acatcagcaa atgagaggaa
     2881 aagcattaat gtgaaacagt tcttcctaaa tttggaggac cctcaagagg atatggaagt
     2941 gatagtgaag tgttgttcgt ggtctgctga tggtgcaagg ataatggtgg cagcaaaaaa
     3001 taaaatcttt ttgtggaata cagactcacg ttcaaaggtg gctgattgca gaggacattt
     3061 aagttgggtt catggtgtga tgttttctcc tgatggatca tcatttttga catcttctga
     3121 tgaccagaca atcaggctct gggagacaaa gaaagtatgt aagaactctg ctgtaatgtt
     3181 aaagcaagaa gtagatgttg tgtttcaaga aaatgaagtg atggtccttg cagttgacca
     3241 tataagacgt ctgcaactca ttaatggaag aacaggtcag attgattatc tgactgaagc
     3301 tcaagttagc tgctgttgct taagtccaca tcttcagtac attgcatttg gagatgaaaa
     3361 tggagccatt gagattttag aacttgtaaa caatagaatc ttccagtcca ggtttcagca
     3421 caagaaaact gtatggcaca tccagttcac agccgatgag aagactctta tttcaagttc
     3481 tgatgatgct gaaattcagg tatggaattg gcaattggac aaatgtatct ttctacgagg
     3541 ccatcaggaa acagtgaaag actttagact cttgaaaaat tcaagactgc tttcttggtc
     3601 atttgatgga acagtgaagg tatggaatat tattactgga aataaagaaa aagactttgt
     3661 ctgtcaccag ggtacagtac tttcttgtga catttctcac gatgctacca agttttcatc
     3721 tacctctgct gacaagactg caaagatctg gagttttgat ctccttttgc cacttcatga
     3781 attgaggggc cacaacggct gtgtgcgctg ctctgccttc tctgtggaca gtaccctgct
     3841 ggcaacggga gatgacaatg gagaaatcag gatatggaat gtctcaaacg gtgagcttct
     3901 tcatttgtgt gctccgcttt cagaagaagg agctgctacc catggaggct gggtgactga
     3961 cctttgcttt tctccagatg gcaaaatgct tatctctgct ggaggatata ttaagtggtg
     4021 gaacgttgtc actggggaat cctcacagac cttctacaca aatggaacca atcttaagaa
     4081 aatacacgtg tcccctgact tcaaaacata tgtgactgtg gataatcttg gtattttata
     4141 tattttacag actttagaat aaaatagtta agcattaatg tagttgaact ttttaaattt
     4201 ttgaattgga aaaaaattct aatgaaaccc tgatatcaac tttttataaa gctcttaatt
     4261 gttgtgcagt attgcattca ttacaaaagt gtttgtggtt ggatgaataa tattaatgta
     4321 gctttttccc aaatgaacat acctttaatc ttgtttttca tgatcatcat taacagtttg
     4381 tccttaggat gcaaatgaaa atgtgaatac ataccttgtt gtactgttgg taaaattctg
     4441 tcttgatgca ttcaaaatgg ttgacataat taatgagaag aatttggaag aaattggtat
     4501 tttaatactg tctgtattta ttactgttat gcaggctgtg cctcagggta gcagtggcct
     4561 gctttttgaa ccacacttac cccaaggggg ttttgttctc ctaaatacaa tcttagaggt
     4621 tttttgcact ctttaaattt gctttaaaaa tattgtgtct gtgtgcatag tctgcagcat
     4681 ttcctttaat tgactcaata agtgagtctt ggatttagca ggccccccca cctttttttt
     4741 ttgtttttgg agacagagtc ttgctttgtt gccaggctgg agtgcagtgg cgcgatctcg
     4801 gctcaccaca atcgctgcct cctgggttca agcaattctc ctgcctcagc ctcccgagta
     4861 gctgggacta caggtgtgcg cacatgccag gctaattttt gtatttttag tagagacggg
     4921 gtttcaccat gttggccggg atggtctcga tctcttgacc tcatgatcta cccgccttgg
     4981 cctcccaaag tgctgagatt acaggcgtga gccaccgtgc ctggccaggc cccttctctt
     5041 ttaatggaga cagggtcttg cactatcacc caggctggag tgcagtggca taatcatacc
     5101 tcattgcagc ctcagactcc tgggttcaag caatcctcct gcctcagcct cccaagtagc
     5161 tgagactgca ggcacgagcc accacaccca gctaattttt aagttttctt gtagagacag
     5221 ggtctcacta tgttgtctag gctggtcttg aactcttggc ctcaagtaat cctcctgcct
     5281 cagcctccca aagtgttggg attgcagata tgagccactg gcctggcctt cagcagttct
     5341 ttttgtgaag taaaacttgt atgttggaaa gagtagattt tattggtcta cccttttctc
     5401 actgtagctg ctggcagccc tgtgccatat ctggactcta gttgtcagta tctgagttgg
     5461 acactattcc tgctccctct tgtttcttac atatcagact tcttacttga atgaaacctg
     5521 atctttccta atcctcactt ttttcttttt taaaaagcag tttctccact gctaaatgtt
     5581 agtcattgag gtggggccaa ttttaatcat aagccttaat aagatttttc taagaaatgt
     5641 gaaatagaac aattttcatc taattccatt tacttttaga tgaatggcat tgtgaatgcc
     5701 attcttttaa tgaatttcaa gagaattctc tggttttctg tgtaattcca gatgagtcac
     5761 tgtaactcta gaagattaac cttccagcca acctattttc ctttcccttg tctctctcat
     5821 cctcttttcc ttccttcttt cctttctctt cttttatctc caaggttaat caggaaaaat
     5881 agcttttgac aggggaaaaa actcaataac tagctatttt tgacctcctg atcaggaact
     5941 ttagttgaag cgtaaatcta aagaaacatt ttctctgaaa tatattatta agggcaatgg
     6001 agataaatta atagtagatg tggttcccag aaaatataat caaaattcaa agattttttt
     6061 tgtttctgta actggaacta aatcaaatga ttactagtgt taatagtaga taacttgttt
     6121 ttattgttgg tgcatattag tataactgtg gggtaggtcg gggagagggt aagggaatag
     6181 atcactcaga tgtattttag ataagctatt tagcctttga tggaatcata aatacagtga
     6241 atacaatcct ttgcattgtt aaggaggttt tttgttttta aatggtgggt caaggagcta
     6301 gtttacaggc ttactgtgat ttaagcaaat gtgaaaagtg aaaccttaat tttatcaaaa
     6361 gaaatttctg taaatggtat gtctccttag aatacccaaa tcataatttt atttgtacac
     6421 actgttaggg gctcatctca tgtaggcaga gtataaagta ttaccttttg gaattaaaag
     6481 ccactgactg ttataaagta taacaacaca catcaggttt taaaaagcct tgaatggccc
     6541 ttgtcttaaa aagaaattag gagccaggtg cggtggcacg tgcctgtagt cccagctcct
     6601 tgggaggctg agacaggagg attccttgag ccctggagtt tgagtccagc ctgggtgaca
     6661 tagcaagacc ctgtcttaaa agaaaaatgg gaagaaagac aaggtaacat gaagaaagaa
     6721 gagataccta gtatgatgga gctgcaaatt tcatggcagt tcatgcagtc ggtcaagagg
     6781 aggattttgt tttgtagttt gcagatgagc atttctaaag cattttccct tgctgtattt
     6841 ttttgtatta taaattacat tggacttcat atatataatt tttttttaca ttatatgtct
     6901 cttgtatgtt ttgaaactct tgtatttatg atatagctta tatgattttt ttgccttggt
     6961 atacatttta aaatatgaat ttaaaaaatt tttgtaaaaa taaaattcac aaaattgttt
     7021 tgaaaaacaa aaaaaaaaaa aa
//



Revised: July 5, 2002.
 
 


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1: NM_020474. Homo sapiens UDP-...[gi:13124890] Links  


LOCUS       GALNT1                  3778 bp    mRNA    linear   PRI 31-JUL-2002
DEFINITION  Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide
            N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA.
ACCESSION   NM_020474
VERSION     NM_020474.2  GI:13124890
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3778)
  AUTHORS   Meurer,J.A., Naylor,J.M., Baker,C.A., Thomsen,D.R., Homa,F.L. and
            Elhammer,A.P.
  TITLE     cDNA cloning, expression, and chromosomal localization of a human
            UDP-GalNAc:polypeptide, N-acetylgalactosaminyltransferase
  JOURNAL   J. Biochem. 118 (3), 568-574 (1995)
  MEDLINE   96115928
   PUBMED   8690719
REFERENCE   2  (bases 1 to 3778)
  AUTHORS   White,T., Bennett,E.P., Takio,K., Sorensen,T., Bonding,N. and
            Clausen,H.
  TITLE     Purification and cDNA cloning of a human
            UDP-N-acetyl-alpha-D-galactosamine:polypeptide
            N-acetylgalactosaminyltransferase
  JOURNAL   J. Biol. Chem. 270 (41), 24156-24165 (1995)
  MEDLINE   96025800
   PUBMED   7592619
REFERENCE   3  (bases 1 to 3778)
  AUTHORS   Meurer,J.A., Drong,R.F., Homa,F.L., Slightom,J.L. and Elhammer,A.P.
  TITLE     Organization of a human UDP-GalNAc:polypeptide,
            N-acetylgalactosaminyltransferase gene and a related processed
            pseudogene
  JOURNAL   Glycobiology 6 (2), 231-241 (1996)
  MEDLINE   96285863
   PUBMED   8727794
REFERENCE   4  (bases 1 to 3778)
  AUTHORS   Takai,S., Hinoda,Y., Adachi,T., Imai,K. and Oshima,M.
  TITLE     A human UDP-GalNAc: polypeptide, N-acetylgalactosaminyltransferase
            type 1 gene is located at the chromosomal region 18q12.1
  JOURNAL   Hum. Genet. 99 (3), 293-294 (1997)
  MEDLINE   97203192
   PUBMED   9050910
REFERENCE   5  (bases 1 to 3778)
  AUTHORS   Bennett,E.P., Weghuis,D.O., Merkx,G., van Kessel,A.G., Eiberg,H.
            and Clausen,H.
  TITLE     Genomic organization and chromosomal localization of three members
            of the UDP-N-acetylgalactosamine: polypeptide
            N-acetylgalactosaminyltransferase family
  JOURNAL   Glycobiology 8 (6), 547-555 (1998)
  MEDLINE   98256183
   PUBMED   9592121
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U41514.1 and Y10343.1.
            On Feb 26, 2001 this sequence version replaced gi:9994172.
            Summary: This gene encodes a member of the
            UDP-N-acetyl-alpha-D-galactosamine:polypeptide
            N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes.
            GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi
            apparatus by catalyzing the transfer of GalNAc to serine and
            threonine residues on target proteins. They are characterized by an
            N-terminal transmembrane domain, a stem region, a lumenal catalytic
            domain containing a GT1 motif and Gal/GalNAc transferase motif, and
            a C-terminal ricin/lectin-like domain. GalNAc-Ts have different,
            but overlapping, substrate specificities and patterns of
            expression. Transcript variants derived from this gene that utilize
            alternative polyA signals have been described in the literature.
FEATURES             Location/Qualifiers
     source          1..3778
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.1"
     gene            1..3778
                     /gene="GALNT1"
                     /note="GALNAC-T1"
                     /db_xref="LocusID:2589"
                     /db_xref="MIM:602273"
     CDS             32..1711
                     /gene="GALNT1"
                     /EC_number="2.4.1.41"
                     /note="UDP-N-acetyl-alpha-D-galactosamine:polypeptide
                     N-acetylgalactosaminyltransferase 1; GalNAc transferase 1;
                     protein-UDP acetylgalactosaminyltransferase 1;
                     UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase
                     1"
                     /codon_start=1
                     /product="polypeptide N-acetylgalactosaminyltransferase 1"
                     /protein_id="NP_065207.2"
                     /db_xref="GI:13124891"
                     /db_xref="LocusID:2589"
                     /db_xref="MIM:602273"
                     /translation="MRKFAYCKVVLATSLIWVLLDMFLLLYFSECNKCDEKKERGLPA
                     GDVLEPVQKPHEGPGEMGKPVVIPKEDQEKMKEMFKINQFNLMASEMIALNRSLPDVR
                     LEGCKTKVYPDNLPTTSVVIVFHNEAWSTLLRTVHSVINRSPRHMIEEIVLVDDASER
                     DFLKRPLESYVKKLKVPVHVIRMEQRSGLIRARLKGAAVSKGQVITFLDAHCECTVGW
                     LEPLLARIKHDRRTVVCPIIDVISDDTFEYMAGSDMTYGGFNWKLNFRWYPVPQREMD
                     RRKGDRTLPVRTPTMAGGLFSIDRDYFQEIGTYDAGMDIWGGENLEISFRIWQCGGTL
                     EIVTCSHVGHVFRKATPYTFPGGTGQIINKNNRRLAEVWMDEFKNFFYIISPGVTKVD
                     YGDISSRVGLRHKLQCKPFSWYLENIYPDSQIPRHYFSLGEIRNVETNQCLDNMARKE
                     NEKVGIFNCHGMGGNQVFSYTANKEIRTDDLCLDVSKLNGPVTMLKCHHLKGNQLWEY
                     DPVKLTLQHVNSNQCLDKATEEDSQVPSIRDCNGSRSQQWLLRNVTLPEIF"
     misc_feature    56..115
                     /gene="GALNT1"
                     /note="Region: transmembrane domain"
     misc_feature    386..940
                     /gene="GALNT1"
                     /note="Region: pfam00535, Glycos_transf_2, Glycosyl
                     transferase. Diverse family, transferring sugar from
                     UDP-glucose, UDP-N-acetyl- galactosamine, GDP-mannose or
                     CDP-abequose, to a range of substrates including
                     cellulose, dolichol phosphate and teichoic acids"
     misc_feature    1325..1450
                     /gene="GALNT1"
                     /note="Region: pfam00652, Ricin_B_lectin, QXW lectin
                     repeat"
     misc_feature    1331..1684
                     /gene="GALNT1"
                     /note="Region: smart00458, RICIN, Ricin-type beta-trefoil;
                     Carbohydrate-binding domain formed from presumed gene
                     triplication"
     misc_feature    1571..1687
                     /gene="GALNT1"
                     /note="Region: pfam00652, Ricin_B_lectin, QXW lectin
                     repeat"
     variation       2154
                     /gene="GALNT1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3209780"
     polyA_signal    2915..2920
                     /gene="GALNT1"
                     /note="major polyA signal"
                     /evidence=experimental
     polyA_site      2938
                     /gene="GALNT1"
                     /evidence=experimental
     variation       3386
                     /gene="GALNT1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1050781"
     polyA_signal    3550..3555
                     /gene="GALNT1"
                     /evidence=experimental
     polyA_site      3571
                     /gene="GALNT1"
                     /evidence=experimental
     variation       complement(3704)
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1986990"
     polyA_signal    3737..3742
                     /gene="GALNT1"
     polyA_site      3778
                     /gene="GALNT1"
                     /evidence=experimental
BASE COUNT     1203 a    639 c    741 g   1195 t
ORIGIN      
        1 tttttaaatt ttgcatttga cttaaagtgc catgagaaaa tttgcatact gcaaggtggt
       61 cctagccacc tccttgattt gggtactctt ggatatgttc ctgctgcttt acttcagtga
      121 atgcaacaaa tgtgatgaaa aaaaggagag aggacttcct gctggagatg ttctagagcc
      181 agtacaaaag cctcatgaag gtcctggaga aatggggaaa ccagtcgtca ttcctaaaga
      241 ggatcaagaa aagatgaaag agatgtttaa aatcaatcag ttcaatttaa tggcaagtga
      301 gatgattgca ctcaacagat ctttaccaga tgttaggtta gaagggtgta aaacaaaggt
      361 gtatccagat aatcttccta caacaagtgt ggtgattgtt ttccacaatg aggcttggag
      421 cacacttctg cgaactgtcc atagtgtcat taatcgctca ccaagacaca tgatagaaga
      481 aattgttcta gtagatgatg ccagtgaaag agactttttg aaaaggcctt tagagagtta
      541 tgtgaaaaaa ctaaaagtac cagttcatgt aattcgaatg gaacaacgtt ctggattgat
      601 cagagctaga ttaaaaggag ctgctgtgtc taaaggccaa gtgatcacct tcctggatgc
      661 ccattgtgag tgtacagtgg gatggctgga gcctctcttg gccaggatca aacatgacag
      721 gagaacagtg gtgtgtccca tcatcgatgt gatcagtgat gatacttttg agtacatggc
      781 aggctctgat atgacctatg gtgggttcaa ctggaagctc aattttcgct ggtatcctgt
      841 tccccaaaga gaaatggaca gaaggaaagg tgatcggact cttcctgtca ggacacctac
      901 catggcagga ggcctttttt caatagacag agattacttt caggaaattg gaacatatga
      961 tgctggaatg gatatttggg gaggagaaaa cctagaaatt tcctttagga tttggcagtg
     1021 tggaggaact ttggaaattg ttacatgctc acatgttgga catgtgtttc ggaaagctac
     1081 accttacacg tttccaggag gcacagggca gattatcaat aaaaataaca gacgacttgc
     1141 agaagtgtgg atggatgaat tcaagaattt cttctatata atttctccag gtgttacaaa
     1201 ggtagattat ggagatatat cgtcaagagt tggtctaaga cacaaactac aatgcaaacc
     1261 tttttcctgg tacctagaga atatatatcc tgattctcaa attccacgtc actatttctc
     1321 attgggagag atacgaaatg tggaaacgaa tcagtgtcta gataacatgg ctagaaaaga
     1381 gaatgaaaaa gttggaattt ttaattgcca tggtatgggg ggtaatcagg ttttctctta
     1441 tactgccaac aaagaaatta gaacagatga cctttgcttg gatgtttcca aacttaatgg
     1501 cccagttaca atgctcaaat gccaccacct aaaaggcaac caactctggg agtatgaccc
     1561 agtgaaatta accctgcagc atgtgaacag taatcagtgc ctggataaag ccacagaaga
     1621 ggatagccag gtgcccagca ttagagactg caatggaagt cggtcccagc agtggcttct
     1681 tcgaaacgtc accctgccag aaatattctg agaccaaatt tacaaaaaaa cgaaaaaaat
     1741 aaggattgac tgggctacct cagcatacat ttctgccaca ttcttaagta gcaaaaaagg
     1801 aaaagtgctt tcctcctctg caggatgtaa ggtttatcag ccattaaaac ttagacttct
     1861 ctagcttttc actagctgtg aaccagcctt cctgtccatg gacgtgaaac tgcatagtaa
     1921 tgagactgtg cacactgatg tttacaagat tgaaagagtc tttctccgaa aatcatggta
     1981 aagaatactg agacaatgaa aaaaaatcaa caaaatatgc tttctggaga actgtacctt
     2041 ctatggtttg cttgcacatc agtagtttct gctgaacgtg ctgtcataat gaagagattt
     2101 ccaagatttt ttttcctgat tagaacgggt agccagtata ttaaatattg atagaaaaat
     2161 aaaagaactg gaaccagatt cagaatcttg aaaacaacat tttttacaac aaacaaaaaa
     2221 actatattaa acagggttta aaggaaaatt aaaacagaac tatgaagaag tacaatttgt
     2281 tatagtatag tatcaaattt ctatatagat tttatacctc agtggggaaa aataactgat
     2341 tccaatgaca ttcattttgt tttcatctgt gatagtcatg gatgctttta ttttccttgg
     2401 ggtgctgaaa ttgagctgaa aaaaaaaggc tctttgaata tagttttaat ttctctctac
     2461 agtttttttt gtttggtttg tgggctgttg gaattgtaat ttttaattgc cttctaaaaa
     2521 atggaaattt aacaatgtct gatctcagct gaacaaatta gatgtttcag ttgctcttgg
     2581 gtcaactggc ttacagattt acatgtgcac acacacacaa atttcttatc acattttcga
     2641 cttcttcact tgacctaact gattatgcga aatacccaag attcatgcta ctgttccaca
     2701 tttgttttca cagcaataaa tcttcagttc tgttgtttat gattccactt aacaaggggc
     2761 ctgcaaatgt gatttattat ttgggtattt ggagataata catttgaggg ttttttggaa
     2821 aacctttttc actccatact caaatatgct tcattgtcaa atgcatattt aaattaaatt
     2881 attgaattgt aatgtttatc tgctgctttt tttaaataaa atttgactga aaatgtttaa
     2941 ttggcatttt ttaatgactt acccaagaaa agtgcagcta ttattccata ttaataggct
     3001 tgcatttctt ttcctaaatc ttatttaggc taaatcagtt ttattgtcct ctgatttttt
     3061 ttaataccac agaaatcacc tgagtgtcaa ttgaaaagtt gtcaattaaa aggtaacctt
     3121 ttaactctcg taggaggaat ctcattaaga catttttcct gatatgtaga gcagtctgtt
     3181 ggcaaaaatg catatatttt ctttcatatt tgtaaaatta tatttaatgg aattcttttc
     3241 tttgattatc aaggactttc actgcaggca gtgctatttc ttgtgcctaa gaatgtttcc
     3301 aaaagtcgca tcgctaatga tatttgccaa gttgagtgta cacaaagttt ctcatatcct
     3361 gttcaagtta atcaacatca aacacatggg gatgctttag ggtgagtcta taatacaaaa
     3421 tgcataaacc atgtccccag gaaatttgaa aggaagcaag tgctgaatgg aatttttttc
     3481 cttttccatg agctgtgtta attctatctc cagtaggcct aatgcttgaa ataagcaaga
     3541 tgtctaatca ataaattatt ttcatgctca gaatttcagg tttttgtact ccagcatagc
     3601 ttggtcttat ttcttactgt atgaaagctt aacagcaatg tgatttaagg ttttgtttta
     3661 aatgggagat gtaagtgatt taattcatgg gtacttttag aacctgatag ataatcccat
     3721 tgcctttatt tttctaatta aagaatccta aatactttga aaatacaaaa tattcctg
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

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&&&&&&&


ADDITIONAL SEQUENCES CORRESPONDING TO TABLE 1




Human mRNA #'s 



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001054. Homo sapiens sulf...[gi:4507302] Links  


LOCUS       SULT1A2                 1396 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens sulfotransferase family, cytosolic, 1A,
            phenol-preferring, member 2 (SULT1A2), mRNA.
ACCESSION   NM_001054
VERSION     NM_001054.1  GI:4507302
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1396)
  AUTHORS   Her,C., Raftogianis,R. and Weinshilboum,R.M.
  TITLE     Human phenol sulfotransferase STP2 gene: molecular cloning,
            structural characterization, and chromosomal localization
  JOURNAL   Genomics 33 (3), 409-420 (1996)
  MEDLINE   96299636
   PUBMED   8661000
REFERENCE   2  (bases 1 to 1396)
  AUTHORS   Zhu,X., Veronese,M.E., Iocco,P. and McManus,M.E.
  TITLE     cDNA cloning and expression of a new form of human aryl
            sulfotransferase
  JOURNAL   Int. J. Biochem. Cell Biol. 28 (5), 565-571 (1996)
  MEDLINE   96252882
   PUBMED   8697101
REFERENCE   3  (bases 1 to 1396)
  AUTHORS   Dooley,T.P. and Huang,Z.
  TITLE     Genomic organization and DNA sequences of two human phenol
            sulfotransferase genes (STP1 and STP2) on the short arm of
            chromosome 16
  JOURNAL   Biochem. Biophys. Res. Commun. 228 (1), 134-140 (1996)
  MEDLINE   97069665
   PUBMED   8912648
REFERENCE   4  (bases 1 to 1396)
  AUTHORS   Gaedigk,A., Beatty,B.G. and Grant,D.M.
  TITLE     Cloning, structural organization, and chromosomal mapping of the
            human phenol sulfotransferase STP2 gene
  JOURNAL   Genomics 40 (2), 242-246 (1997)
  MEDLINE   97237042
   PUBMED   9119390
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from U34804.1.
FEATURES             Location/Qualifiers
     source          1..1396
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.1-p11.2"
     gene            1..1396
                     /gene="SULT1A2"
                     /note="STP2"
                     /db_xref="LocusID:6799"
                     /db_xref="MIM:601292"
     variation       284
                     /gene="SULT1A2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1690403"
     CDS             426..1313
                     /gene="SULT1A2"
                     /note="sulfotransferase family 1A, phenol-preferring,
                     member 2"
                     /codon_start=1
                     /product="sulfotransferase family, cytosolic, 1A,
                     phenol-preferring, member 2"
                     /protein_id="NP_001045.1"
                     /db_xref="GI:4507303"
                     /db_xref="LocusID:6799"
                     /db_xref="MIM:601292"
                     /translation="MELIQDISRPPLEYVKGVPLIKYFAEALGPLQSFQARPDDLLIS
                     TYPKSGTTWVSQILDMIYQGGDLEKCHRAPIFMRVPFLEFKVPGIPSGMETLKNTPAP
                     RLLKTHLPLALLPQTLLDQKVKVVYVARNAKDVAVSYYHFYHMAKVYPHPGTWESFLE
                     KFMAGEVSYGSWYQHVQEWWELSRTHPVLYLFYEDMKENPKREIQKILEFVGRSLPEE
                     TVDLMVEHTSFKEMKKNPMTNYTTVRREFMDHSISPFMRKGMAGDWKTTFTVAQNERF
                     DADYAEKMAGCSLSFRSEL"
     misc_feature    471..1274
                     /gene="SULT1A2"
                     /note="Sulfotransfer; Region: Sulfotransferase proteins"
                     /db_xref="CDD:pfam00685"
     variation       445
                     /gene="SULT1A2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3181460"
     variation       445
                     /gene="SULT1A2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1136703"
     variation       449
                     /gene="SULT1A2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1059489"
     variation       578
                     /gene="SULT1A2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1126446"
     variation       578
                     /gene="SULT1A2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3181463"
     variation       587
                     /gene="SULT1A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1126447"
     variation       587
                     /gene="SULT1A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3181464"
     variation       725
                     /gene="SULT1A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1041986"
     variation       833
                     /gene="SULT1A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1042000"
     variation       956
                     /gene="SULT1A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1042019"
     variation       1025
                     /gene="SULT1A2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3181498"
     variation       1025
                     /gene="SULT1A2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1126466"
     variation       1027
                     /gene="SULT1A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1141838"
     variation       1027
                     /gene="SULT1A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3205661"
     variation       1063
                     /gene="SULT1A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3181508"
     variation       1082
                     /gene="SULT1A2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1042033"
     variation       1083
                     /gene="SULT1A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2230714"
     variation       1098
                     /gene="SULT1A2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1042041"
     variation       1129
                     /gene="SULT1A2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1059491"
     variation       1129
                     /gene="SULT1A2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3174702"
     variation       1149
                     /gene="SULT1A2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1064682"
     variation       1164
                     /gene="SULT1A2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2230715"
     variation       1220
                     /gene="SULT1A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1802793"
     variation       1294
                     /gene="SULT1A2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1062482"
     variation       1320
                     /gene="SULT1A2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3175630"
     variation       1327
                     /gene="SULT1A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3175631"
BASE COUNT      322 a    395 c    418 g    261 t
ORIGIN      
        1 gcattcccca cacaacaccc acactcagcc actgcgggcg aggagggcac gaggccaggt
       61 tcccaagagc tcaggtttgt cctggaaccc agatggactg tggccgggca agtggatcac
      121 aggcctggcc agcctaggag ttgccacatg tgaggggccg aggggctcaa ggaggggaac
      181 atcggggaga ggagcctact gggtggaggc tgggggtccc agcaggaaat ggtgagacaa
      241 agggcgctgg ctggcaggaa gacagcacag gaaggtccta gaggttcctc agtgcagctg
      301 gactctcctg gagaccttca cacaccctga catctgggcc ccgttccacg agggtgcttt
      361 cactggtctg caccatggcc caggccctgg gattttgaac agctccgcag gtgaatgaaa
      421 ggaacatgga gctgatccag gacatctctc gcccgccact ggagtacgtg aagggggtcc
      481 cgctcatcaa gtactttgca gaggcactgg ggcccctgca gagcttccag gcccggcctg
      541 atgacctgct catcagcacc taccccaagt ccggcaccac ctgggtgagc cagattctgg
      601 acatgatcta ccagggcggt gacctggaaa agtgtcaccg agctcccatc ttcatgcggg
      661 tgcccttcct tgagttcaaa gtcccaggga ttccctcagg gatggagact ctgaaaaaca
      721 caccagcccc acgactcctg aagacacacc tgcccctggc tctgctcccc cagactctgt
      781 tggatcagaa ggtcaaggtg gtctatgttg cccgcaacgc aaaggatgtg gcggtttcct
      841 actaccactt ctaccacatg gccaaagtgt accctcaccc tgggacctgg gaaagcttcc
      901 tggagaagtt catggctgga gaagtgtcct atgggtcctg gtaccagcac gtgcaagagt
      961 ggtgggagct gagccgcacc caccctgttc tctacctctt ctatgaagac atgaaggaga
     1021 accccaaaag ggagattcaa aagatcctgg agtttgtggg gcgctccctg ccagaggaga
     1081 ctgtggacct catggttgag cacacgtcgt tcaaggagat gaagaagaac cctatgacca
     1141 actacaccac cgtccgccgg gagttcatgg accacagcat ctcccccttc atgaggaaag
     1201 gcatggctgg ggactggaag accaccttca ccgtggcgca gaatgagcgc ttcgatgcgg
     1261 actatgcgga gaagatggca ggctgcagcc tcagcttccg ctctgagctg tgagaggggt
     1321 tcctggagtc actgcagagg gagtgtgcga atcaagcctg accaagaggc tccagaataa
     1381 agtatgattt gtgttc
//



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1: NM_007818. Mus musculus cyto...[gi:6681112] Links  


LOCUS       Cyp3a11                 1690 bp    mRNA    linear   ROD 07-JAN-2002
DEFINITION  Mus musculus cytochrome P450, steroid inducible 3a11 (Cyp3a11),
            mRNA.
ACCESSION   NM_007818
VERSION     NM_007818.1  GI:6681112
KEYWORDS    .
SOURCE      Mus musculus
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Rodentia; Sciurognathi; Muridae; Murinae; Mus.
REFERENCE   1  (bases 1 to 1690)
  AUTHORS   Yanagimoto,T., Itoh,S., Muller-Enoch,D. and Kamataki,T.
  TITLE     Mouse liver cytochrome P-450 (P-450IIIAM1): its cDNA cloning and
            inducibility by dexamethasone
  JOURNAL   Biochim. Biophys. Acta 1130 (3), 329-332 (1992)
  MEDLINE   92223116
   PUBMED   1339292
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from X60452.1.
FEATURES             Location/Qualifiers
     source          1..1690
                     /organism="Mus musculus"
                     /strain="DDY"
                     /db_xref="taxon:10090"
                     /chromosome="5"
                     /map="5 85.0 cM"
                     /clone="pMDex4"
                     /sex="Male"
                     /tissue_type="liver"
                     /clone_lib="lambda ZAP cDNA"
                     /dev_stage="4-week old mice"
     gene            1..1690
                     /gene="Cyp3a11"
                     /note="IIIAm1"
                     /db_xref="LocusID:13112"
                     /db_xref="MGD:88609"
     CDS             75..1589
                     /gene="Cyp3a11"
                     /function="catalyzes erythromycin N-demethylation,
                     nifedipine oxidation and testosterone
                     6beta-hydroxylation"
                     /codon_start=1
                     /product="cytochrome P450, steroid inducible 3a11"
                     /protein_id="NP_031844.1"
                     /db_xref="GI:6681113"
                     /db_xref="LocusID:13112"
                     /db_xref="MGD:88609"
                     /translation="MDLVSALSLETWVLLAISLVLLYRYGTRKHELFKKQGIPGPKPL
                     PFLGTVLNYYKGLWKFDMECYKKYGKTWGLFDGQTPLLAVTDPETIKNVLVKECFSVF
                     TNRRDFGPVGIMSKAISISKDDEWKRYRALLSPTFTSGKLKEMFPVIEQYGDILVKYL
                     RQKAKKGKPVTMKDVLGAYSMDVITSTSFGVNVDSLNNPEDPFVEKAKKLLRFDFFDP
                     LLFSVVLFPFLTPVYEMLNICMFPKDSIEFFKKFVDRMKESRLDSKQKHRVDFLQLMM
                     NSHNNSKDKVSHKALSDMEITAQSIIFIFAGYETTSSTLSFTLHSLATHPDIQKKLQD
                     EIDEALPNKAPPTYDTVMEMEYLDMVLNETLRLYPIANRLERVCKKDVELNGVYIPKG
                     STVMIPSYALHHDPQHWSEPEEFQPERFSKENKGSIDPYVYLPFGNGPRNCLGMRFAL
                     MNMKLALTKIMQNFSFQPCKETQIPLKLSRQGLLQPEKPIVLKVVPRDAVITGA"
     misc_feature    186..1556
                     /gene="Cyp3a11"
                     /note="p450; Region: Cytochrome P450"
                     /db_xref="CDD:pfam00067"
     polyA_signal    1681..1685
                     /gene="Cyp3a11"
BASE COUNT      510 a    349 c    377 g    454 t
ORIGIN      
        1 gaagcattga ggaggatcac acacacagtt gtagggagaa cacagagaag taaattgctg
       61 acaaacaagc agggatggac ctggtttcag ctctctcact ggaaacctgg gtgctcctag
      121 caatcagctt ggtgctcctc taccgatatg ggactcgtaa acatgaactt tttaagaaac
      181 agggaattcc tgggcccaaa cctctgccat ttttaggcac tgtgctgaat tattacaagg
      241 gtttatggaa attcgacatg gagtgctata aaaagtatgg aaaaacatgg gggttgtttg
      301 atggtcaaac gcctctcctt gctgtcacag acccagagac gattaagaat gtgctagtga
      361 aggaatgttt ttctgtcttc acaaaccggc gggattttgg cccagtgggg ataatgagta
      421 aagctatctc aatatctaag gatgatgaat ggaagagata tagagctttg ctgtccccca
      481 cattcaccag tggaaaactc aaggagatgt tccctgtcat tgaacagtat ggagacattt
      541 tggtaaagta cttgaggcag aaggcaaaga aaggcaagcc tgttactatg aaagatgtgt
      601 taggtgctta cagcatggat gtgatcacca gcacatcatt tggagtgaac gtggattccc
      661 tcaacaaccc agaggatcct tttgtggaga aagccaaaaa gcttttaaga tttgattttt
      721 ttgatccttt gctcttctca gtagtacttt ttccattcct gacaccagta tatgagatgt
      781 taaatatctg catgttccca aaggattcaa tagaattttt caaaaaattt gtggacagaa
      841 tgaaggaaag ccgcctggat tctaagcaga agcaccgagt ggattttctt cagctgatga
      901 tgaattctca taataattcc aaagacaaag tctctcataa agccctttct gacatggaga
      961 tcacagccca gtcaattatc tttatttttg ctgggtatga aaccaccagt agcacacttt
     1021 ccttcaccct gcattccttg gccactcacc ctgatatcca gaaaaaactg caggatgaga
     1081 tcgatgaggc tctgcccaac aaggcacctc ccacgtatga tactgtgatg gagatggaat
     1141 acctggatat ggtgcttaat gaaaccctca gattatatcc cattgctaat agacttgaga
     1201 gagtctgtaa gaaagatgtt gaactcaatg gtgtgtatat ccccaaaggg tcaacagtga
     1261 tgattccatc ttatgctctt caccatgacc cacagcactg gtcagagcct gaagaattcc
     1321 aacctgaaag gttcagcaag gagaacaagg gcagcattga tccttatgta tatctgccct
     1381 ttgggaatgg acccaggaac tgccttggca tgaggtttgc tctcatgaat atgaaacttg
     1441 ctctcactaa aattatgcag aacttctcct tccagccttg taaggaaaca cagatacctc
     1501 tgaaattaag cagacaagga cttcttcaac cagaaaaacc cattgttcta aaggttgtgc
     1561 cacgggatgc agtcataact ggagcatgag tctccctcaa ggagttcttc tgagttcttc
     1621 agaaaggcag tgtctaagaa catcggacat tttagtttca tcatgagtaa aattgagatg
     1681 aataaggggc
//



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1: XM_031238. Homo sapiens comp...[gi:22045500] Links  


LOCUS       C1QG                    1176 bp    mRNA    linear   PRI 01-AUG-2002
DEFINITION  Homo sapiens complement component 1, q subcomponent, gamma
            polypeptide (C1QG), mRNA.
ACCESSION   XM_031238
VERSION     XM_031238.7  GI:22045500
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1176)
  AUTHORS   NCBI Annotation Project.
  TITLE     Direct Submission
  JOURNAL   Submitted (31-JUL-2002) National Center for Biotechnology
            Information, NIH, Bethesda, MD 20894, USA
COMMENT     GENOME ANNOTATION REFSEQ:  This model reference sequence was
            predicted from NCBI contig NT_004610 by automated computational
            analysis using gene prediction method: BLAST, supported by mRNA and
            EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
             
            On Aug 1, 2002 this sequence version replaced gi:20537457.
FEATURES             Location/Qualifiers
     source          1..1176
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
     gene            1..1176
                     /gene="C1QG"
                     /note="C1QC"
                     /db_xref="LocusID:714"
                     /db_xref="MIM:120575"
     variation       116
                     /gene="C1QG"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2935537"
     CDS             119..856
                     /gene="C1QG"
                     /codon_start=1
                     /product="similar to pancreatic elastase (EC 3.4.21.36)
                     IIIA precursor - human"
                     /protein_id="XP_031238.1"
                     /db_xref="GI:14726804"
                     /db_xref="LocusID:714"
                     /db_xref="MIM:120575"
                     /translation="MDVGPSSLPHLGLKLLLLLLLLPLRGQANTGCYGIPGMPGLPGA
                     PGKDGYDGLPGPKGEPGIPAIPGIRGPKGQKGEPGLPGHPGKNGPMGPPGMPGVPGPM
                     GIPGEPGEEGRYKQKFQSVFTVTRQTHQPPAPNSLIRFNAVLTNPQGDYDTSTGKFTC
                     KVPGLYYFVYHASHTANLCVLLYRSGVKVVTFCGHTSKTNQVNSGGVLLRLQVGEEVW
                     LAVNDYYDMVGIQGSDSVFSGFLLFPD"
     misc_feature    455..853
                     /gene="C1QG"
                     /note="Region: smart00110, C1Q, Complement component C1q
                     domain; Globular domain found in many collagens and
                     eponymously in complement C1q. When part of full length
                     proteins these domains form a 'bouquet' due to the
                     multimerization of heterotrimers. The C1q fold is similar
                     to that of tumour necrosis factor"
     misc_feature    479..844
                     /gene="C1QG"
                     /note="Region: pfam00386, C1q, C1q domain. C1q is a
                     subunit of the C1 enzyme complex that activates the serum
                     complement system"
     variation       244
                     /gene="C1QG"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3816970"
     variation       244
                     /gene="C1QG"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:15940"
     variation       563
                     /gene="C1QG"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1052042"
     variation       complement(877)
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:9434"
     variation       complement(877)
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3738294"
     variation       complement(960..976)
                     /allele="-"
                     /allele="AGAAGTCCATCTGGTGG"
                     /db_xref="dbSNP:3831963"
     variation       1041
                     /gene="C1QG"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1052547"
BASE COUNT      233 a    386 c    325 g    232 t
ORIGIN      
        1 agacaccgtg tcctcttgcc tgggagaggg gaagcagatc tgaggacatc tctgtgccag
       61 gccagaaacc gcccacctgc aggtgaggcc cggacccctg cccagttcct tctccgggat
      121 ggacgtgggg cccagctccc tgccccacct tgggctgaag ctgctgctgc tcctgctgct
      181 gctgcccctc aggggccaag ccaacacagg ctgctacggg atcccaggga tgcccggcct
      241 gcccggggca ccagggaagg atgggtacga cggactgccg gggcccaagg gggagccagg
      301 aatcccagcc attcccggga tccgaggacc caaagggcag aagggagaac ccggcttacc
      361 cggccatcct gggaaaaatg gccccatggg accccctggg atgccagggg tgcccggccc
      421 catgggcatc cctggagagc caggtgagga gggcagatac aagcagaaat tccagtcagt
      481 gttcacggtc actcggcaga cccaccagcc ccctgcaccc aacagcctga tcagattcaa
      541 cgcggtcctc accaacccgc agggagatta tgacacgagc actggcaagt tcacctgcaa
      601 agtccccggc ctctactact ttgtctacca cgcgtcgcat acagccaacc tgtgcgtgct
      661 gctgtaccgc agcggcgtca aagtggtcac cttctgtggc cacacgtcca aaaccaatca
      721 ggtcaactcg ggcggtgtgc tgctgaggtt gcaggtgggc gaggaggtgt ggctggctgt
      781 caatgactac tacgacatgg tgggcatcca gggctctgac agcgtcttct ccggcttcct
      841 gctcttcccc gactagggcg ggcagatgcg ctcgagaccc acgggccttc cacctccctc
      901 agcttcctgc atggacccac cttactggcc agtctgcatc cttgcctaga ccattctccc
      961 caccagatgg acttctcctc cagggagccc accctgaccc acccccactg caccccctcc
     1021 ccatgggttc tctccttcct ctgaacttct ttaggagtca ctgcttgtgt ggttcctggg
     1081 acacttaacc aatgccttct ggtactgcca ttcttttttt tttttttcaa gtattggaag
     1141 gggtggggag atatataaat aaatcatgaa atcaat
//



Revised: July 5, 2002.
 
 


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1: NM_006419. Homo sapiens chem...[gi:5453576] Links  


LOCUS       CXCL13                  1216 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens chemokine (C-X-C motif) ligand 13 (B-cell
            chemoattractant) (CXCL13), mRNA.
ACCESSION   NM_006419
VERSION     NM_006419.1  GI:5453576
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1216)
  AUTHORS   Legler,D.F., Loetscher,M., Roos,R.S., Clark-Lewis,I., Baggiolini,M.
            and Moser,B.
  TITLE     B cell-attracting chemokine 1, a human CXC chemokine expressed in
            lymphoid tissues, selectively attracts B lymphocytes via BLR1/CXCR5
  JOURNAL   J. Exp. Med. 187 (4), 655-660 (1998)
  MEDLINE   98130629
   PUBMED   9463416
REFERENCE   2  (bases 1 to 1216)
  AUTHORS   Gunn,M.D., Ngo,V.N., Ansel,K.M., Ekland,E.H., Cyster,J.G. and
            Williams,L.T.
  TITLE     A B-cell-homing chemokine made in lymphoid follicles activates
            Burkitt's lymphoma receptor-1
  JOURNAL   Nature 391 (6669), 799-803 (1998)
  MEDLINE   98146056
   PUBMED   9486651
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF044197.1.
            Summary: B lymphocyte chemoattractant, independently cloned and
            named Angie, is a CXC chemokine strongly expressed in the follicles
            of the spleen, lymph nodes, and Peyer's patches. It preferentially
            promotes the migration of B lymphocytes (compared to T cells and
            macrophages), apparently by stimulating calcium influx into, and
            chemotaxis of, cells expressing Burkitt's lymphoma receptor 1
            (BLR-1). It may therefore function in the homing of B lymphocytes
            to follicles.
FEATURES             Location/Qualifiers
     source          1..1216
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21"
     gene            1..1216
                     /gene="CXCL13"
                     /note="BLC; BCA1; ANGIE; BCA-1; SCYB13"
                     /db_xref="LocusID:10563"
                     /db_xref="MIM:605149"
     CDS             91..420
                     /gene="CXCL13"
                     /note="B-cell-homing chemokine (ligand for Burkitt's
                     lymphoma receptor-1); small inducible cytokine B subfamily
                     (Cys-X-Cys motif), member 13 (B-cell chemoattractant)"
                     /codon_start=1
                     /product="chemokine (C-X-C motif) ligand 13 (B-cell
                     chemoattractant)"
                     /protein_id="NP_006410.1"
                     /db_xref="GI:5453577"
                     /db_xref="LocusID:10563"
                     /db_xref="MIM:605149"
                     /translation="MKFISTSLLLMLLVSSLSPVQGVLEVYYTSLRCRCVQESSVFIP
                     RRFIDRIQILPRGNGCPRKEIIVWKKNKSIVCVDPQAEWIQRMMEVLRKRSSSTLPVP
                     VFKRKIP"
     misc_feature    175..363
                     /gene="CXCL13"
                     /note="Region: pfam00048, IL8, Small cytokines
                     (intecrine/chemokine), interleukin-8 like. Includes a
                     number of secreted growth factors and interferons involved
                     in mitogenic, chemotactic, and inflammatory activity.
                     Structure contains two highly conserved disulfide bonds"
     misc_feature    178..363
                     /gene="CXCL13"
                     /note="Region: smart00199, SCY, Intercrine alpha family
                     (small cytokine C-X-C) (chemokine CXC); Family of
                     cytokines involved in cell-specific chemotaxis, mediation
                     of cell growth, and the inflammatory response"
     variation       459
                     /gene="CXCL13"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1052563"
     variation       567
                     /gene="CXCL13"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3192975"
     variation       830
                     /gene="CXCL13"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1802209"
     variation       complement(1120)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:11868"
BASE COUNT      376 a    228 c    243 g    369 t
ORIGIN      
        1 ttcggcactt gggagaagat gtttgaaaaa actgactctg ctaatgagcc tggactcaga
       61 gctcaagtct gaactctacc tccagacaga atgaagttca tctcgacatc tctgcttctc
      121 atgctgctgg tcagcagcct ctctccagtc caaggtgttc tggaggtcta ttacacaagc
      181 ttgaggtgta gatgtgtcca agagagctca gtctttatcc ctagacgctt cattgatcga
      241 attcaaatct tgccccgtgg gaatggttgt ccaagaaaag aaatcatagt ctggaagaag
      301 aacaagtcaa ttgtgtgtgt ggaccctcaa gctgaatgga tacaaagaat gatggaagta
      361 ttgagaaaaa gaagttcttc aactctacca gttccagtgt ttaagagaaa gattccctga
      421 tgctgatatt tccactaaga acacctgcat tcttccctta tccctgctct ggattttagt
      481 tttgtgctta gttaaatctt ttccagggag aaagaacttc cccatacaaa taaggcatga
      541 ggactatgtg aaaaataacc ttgcaggagc tgatggggca aactcaagct tcttcactca
      601 cagcacccta tatacacttg gagtttgcat tcttattcat cagggaggaa agtttctttg
      661 aaaatagtta ttcagttata agtaatacag gattattttg attatatact tgttgtttaa
      721 tgtttaaaat ttcttagaaa acaatggaat gagaatttaa gcctcaaatt tgaacatgtg
      781 gcttgaatta agaagaaaat tatggcatat attaaaagca ggcttctatg aaagactcaa
      841 aaagctgcct gggaggcaga tggaacttga gcctgtcaag aggcaaagga atccatgtag
      901 tagatatcct ctgcttaaaa actcactacg gaggagaatt aagtcctact tttaaagaat
      961 ttctttataa aatttactgt ctaagattaa tagcattcga agatccccag acttcataga
     1021 atactcaggg aaagcattta aagggtgatg tacacatgta tcctttcaca catttgcctt
     1081 gacaaacttc tttcactcac atctttttca ctgacttttt ttgtgggggc ggggccgggg
     1141 ggactctggt atctaattct ttaatgattc ctataaatct aatgacattc aataaagttg
     1201 agcaaacatt ttactt
//



Revised: July 5, 2002.
 
 


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1: NM_013229. Homo sapiens apop...[gi:7108332] Links  


LOCUS       APAF1                   7171 bp    mRNA    linear   PRI 03-FEB-2001
DEFINITION  Homo sapiens apoptotic protease activating factor (APAF1),
            transcript variant 1, mRNA.
ACCESSION   NM_013229
VERSION     NM_013229.1  GI:7108332
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7171)
  AUTHORS   Zou,H., Henzel,W.J., Liu,X., Lutschg,A. and Wang,X.
  TITLE     Apaf-1, a human protein homologous to C. elegans CED-4,
            participates in cytochrome c-dependent activation of caspase-3
  JOURNAL   Cell 90 (3), 405-413 (1997)
  MEDLINE   97410306
   PUBMED   9267021
REFERENCE   2  (bases 1 to 7171)
  AUTHORS   Ishikawa,K., Nagase,T., Nakajima,D., Seki,N., Ohira,M.,
            Miyajima,N., Tanaka,A., Kotani,H., Nomura,N. and Ohara,O.
  TITLE     Prediction of the coding sequences of unidentified human genes.
            VIII. 78 new cDNA clones from brain which code for large proteins
            in vitro
  JOURNAL   DNA Res. 4 (5), 307-313 (1997)
  MEDLINE   98116655
   PUBMED   9455477
REFERENCE   3  (bases 1 to 7171)
  AUTHORS   Smith,T.F., Gaitatzes,C., Saxena,K. and Neer,E.J.
  TITLE     The WD repeat: a common architecture for diverse functions
  JOURNAL   Trends Biochem. Sci. 24 (5), 181-185 (1999)
  MEDLINE   99257314
   PUBMED   10322433
REFERENCE   4  (bases 1 to 7171)
  AUTHORS   Saleh,A., Srinivasula,S.M., Acharya,S., Fishel,R. and Alnemri,E.S.
  TITLE     Cytochrome c and dATP-mediated oligomerization of Apaf-1 is a
            prerequisite for procaspase-9 activation
  JOURNAL   J. Biol. Chem. 274 (25), 17941-17945 (1999)
  MEDLINE   99292765
   PUBMED   10364241
REFERENCE   5  (bases 1 to 7171)
  AUTHORS   Hahn,C., Hirsch,B., Jahnke,D., Durkop,H. and Stein,H.
  TITLE     Three new types of Apaf-1 in mammalian cells
  JOURNAL   Biochem. Biophys. Res. Commun. 261 (3), 746-749 (1999)
  MEDLINE   99373149
   PUBMED   10441496
REFERENCE   6  (bases 1 to 7171)
  AUTHORS   Kim,H., Jung,Y.K., Kwon,Y.K. and Park,S.H.
  TITLE     Assignment of apoptotic protease activating factor-1 gene (APAF1)
            to human chromosome band 12q23 by fluorescence in situ
            hybridization
  JOURNAL   Cytogenet. Cell Genet. 87 (3-4), 252-253 (1999)
  MEDLINE   20169199
   PUBMED   10702682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF134397.1 and AF013263.1.
            Summary: Caspases are a highly conserved family of cysteine
            proteases that cleave their substrates after an aspartate residue.
            They play fundamental roles in the initiation and execution of
            apoptosis. The gene described here encodes a WD-repeat containing
            protein. WD-repeat-containing proteins are those that contain 4 or
            more copies of the WD-repeat (tryptophan-aspartate repeat), a
            sequence motif approximately 31 amino acids long, that encodes a
            structural repeat. Activation of procaspase-9 by the APAF1 gene in
            the cytochrome c/dATP-dependent pathway requires proteolytic
            cleavage to generate the mature caspase molecule. It was shown that
            a truncated APAF1 variant lacking the WD-repeat domain makes APAF1
            constitutively active and capable of processing procaspase-9
            independent of cytochrome c and dATP. Moreover the truncated
            protein was unable to release the mature caspase-9 from the complex
            raising the possibility that the WD-40 repeats play a role in the
            release of mature caspase-9.
            Transcript Variant:  This isoform includes one additional WD-repeat
            domain, encoded by exon 17A, that is missing in variant 2.
FEATURES             Location/Qualifiers
     source          1..7171
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23"
     gene            1..7171
                     /gene="APAF1"
                     /note="CED4"
                     /db_xref="LocusID:317"
                     /db_xref="MIM:602233"
     variation       249
                     /gene="APAF1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3741810"
     variation       249
                     /gene="APAF1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2118851"
     variation       390
                     /gene="APAF1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3741811"
     variation       390
                     /gene="APAF1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:2118852"
     CDS             578..4291
                     /gene="APAF1"
                     /function="mediates autocatalytic activation of
                     procaspase-9"
                     /note="isoform a is encoded by transcript variant 1;
                     apoptotic protease activating factor 1"
                     /codon_start=1
                     /product="apoptotic protease activating factor isoform a"
                     /protein_id="NP_037361.1"
                     /db_xref="GI:7108333"
                     /db_xref="LocusID:317"
                     /db_xref="MIM:602233"
                     /translation="MDAKARNCLLQHREALEKDIKTSYIMDHMISDGFLTISEEEKVR
                     NEPTQQQRAAMLIKMILKKDNDSYVSFYNALLHEGYKDLAALLHDGIPVVSSSSVRTV
                     LCEGGVPQRPVVFVTRKKLVNAIQQKLSKLKGEPGWVTIHGMAGCGKSVLAAEAVRDH
                     SLLEGCFPGGVHWVSVGKQDKSGLLMKLQNLCTRLDQDESFSQRLPLNIEEAKDRLRI
                     LMLRKHPRSLLILDDVWDSWVLKAFDSQCQILLTTRDKSVTDSVMGPKYVVPVESSLG
                     KEKGLEILSLFVNMKKADLPEQAHSIIKECKGSPLVVSLIGALLRDFPNRWEYYLKQL
                     QNKQFKRIRKSSSYDYEALDEAMSISVEMLREDIKDYYTDLSILQKDVKVPTKVLCIL
                     WDMETEEVEDILQEFVNKSLLFCDRNGKSFRYYLHDLQVDFLTEKNCSQLQDLHKKII
                     TQFQRYHQPHTLSPDQEDCMYWYNFLAYHMASAKMHKELCALMFSLDWIKAKTELVGP
                     AHLIHEFVEYRHILDEKDCAVSENFQEFLSLNGHLLGRQPFPNIVQLGLCEPETSEVY
                     QQAKLQAKQEVDNGMLYLEWINKKNITNLSRLVVRPHTDAVYHACFSEDGQRIASCGA
                     DKTLQVFKAETGEKLLEIKAHEDEVLCCAFSTDDRFIATCSVDKKVKIWNSMTGELVH
                     TYDEHSEQVNCCHFTNSSHHLLLATGSSDCFLKLWDLNQKECRNTMFGHTNSVNHCRF
                     SPDDKLLASCSADGTLKLWDATSANERKSINVKQFFLNLEDPQEDMEVIVKCCSWSAD
                     GARIMVAAKNKIFLFDIHTSGLLGEIHTGHHSTIQYCDFSPQNHLAVVALSQYCVELW
                     NTDSRSKVADCRGHLSWVHGVMFSPDGSSFLTSSDDQTIRLWETKKVCKNSAVMLKQE
                     VDVVFQENEVMVLAVDHIRRLQLINGRTGQIDYLTEAQVSCCCLSPHLQYIAFGDENG
                     AIEILELVNNRIFQSRFQHKKTVWHIQFTADEKTLISSSDDAEIQVWNWQLDKCIFLR
                     GHQETVKDFRLLKNSRLLSWSFDGTVKVWNIITGNKEKDFVCHQGTVLSCDISHDATK
                     FSSTSADKTAKIWSFDLLLPLHELRGHNGCVRCSAFSVDSTLLATGDDNGEIRIWNVS
                     NGELLHLCAPLSEEGAATHGGWVTDLCFSPDGKMLISAGGYIKWWNVVTGESSQTFYT
                     NGTNLKKIHVSPDFKTYVTVDNLGILYILQTLE"
     misc_feature    581..844
                     /gene="APAF1"
                     /note="CARD; Region: Caspase recruitment domain"
                     /db_xref="CDD:pfam00619"
     misc_feature    854..1786
                     /gene="APAF1"
                     /note="NB-ARC; Region: NB-ARC domain"
                     /db_xref="CDD:pfam00931"
     misc_feature    932..1081
                     /gene="APAF1"
                     /note="RNA_helicase; Region: RNA helicase"
                     /db_xref="CDD:pfam00910"
     misc_feature    3011..3139
                     /gene="APAF1"
                     /note="missing in shorter isoform"
     variation       6969
                     /gene="APAF1"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:12159"
     variation       6973..6974
                     /gene="APAF1"
                     /allele="-"
                     /allele="T"
                     /db_xref="dbSNP:3834481"
     polyA_signal    7128..7133
                     /gene="APAF1"
     polyA_site      7157
                     /gene="APAF1"
BASE COUNT     2016 a   1390 c   1607 g   2158 t
ORIGIN      
        1 aagaagaggt agcgagtgga cgtgactgct ctatcccggg caaaagggat agaaccagag
       61 gtggggagtc tgggcagtcg gcgacccgcg aagacttgag gtgccgcagc ggcatccgga
      121 gtagcgccgg gctccctccg gggtgcagcc gccgtcgggg gaagggcgcc acaggccggg
      181 aagacctcct ccctttgtgt ccagtagtgg ggtccaccgg agggcggccc gtgggccggg
      241 cctcaccgcg gcgctccggg actgtggggt caggctgcgt tgggtggacg cccacctcgc
      301 caaccttcgg aggtccctgg gggtcttcgt gcgccccggg gctgcagaga tccaggggag
      361 gcgcctgtga ggcccggacc tgccccgggg cgaagggtat gtggcgagac agagccctgc
      421 acccctaatt cccggtggaa aactcctgtt gccgtttccc tccaccggcc tggagtctcc
      481 cagtcttgtc ccggcagtgc cgccctcccc actaagacct aggcgcaaag gcttggctca
      541 tggttgacag ctcagagaga gaaagatctg agggaagatg gatgcaaaag ctcgaaattg
      601 tttgcttcaa catagagaag ctctggaaaa ggacatcaag acatcctaca tcatggatca
      661 catgattagt gatggatttt taacaatatc agaagaggaa aaagtaagaa atgagcccac
      721 tcaacagcaa agagcagcta tgctgattaa aatgatactt aaaaaagata atgattccta
      781 cgtatcattc tacaatgctc tactacatga aggatataaa gatcttgctg cccttctcca
      841 tgatggcatt cctgttgtct cttcttccag tgtaaggaca gtcctgtgtg aaggtggagt
      901 accacagagg ccagttgttt ttgtcacaag gaagaagctg gtgaatgcaa ttcagcagaa
      961 gctctccaaa ttgaaaggtg aaccaggatg ggtcaccata catggaatgg caggctgtgg
     1021 gaagtctgta ttagctgcag aagctgttag agatcattcc cttttagaag gttgtttccc
     1081 agggggagtg cattgggttt cagttgggaa acaagacaaa tctgggcttc tgatgaaact
     1141 gcagaatctt tgcacacggt tggatcagga tgagagtttt tcccagaggc ttccacttaa
     1201 tattgaagag gctaaagacc gtctccgcat tctgatgctt cgcaaacacc caaggtctct
     1261 cttgatcttg gatgatgttt gggactcttg ggtgttgaaa gcttttgaca gtcagtgtca
     1321 gattcttctt acaaccagag acaagagtgt tacagattca gtaatgggtc ctaaatatgt
     1381 agtccctgtg gagagttcct taggaaagga aaaaggactt gaaattttat ccctttttgt
     1441 taatatgaag aaggcagatt tgccagaaca agctcatagt attataaaag aatgtaaagg
     1501 ctctcccctt gtagtatctt taattggtgc acttttacgt gattttccca atcgctggga
     1561 gtactacctc aaacagcttc agaataagca gtttaagaga ataaggaaat cttcgtctta
     1621 tgattatgag gctctagatg aagccatgtc tataagtgtt gaaatgctca gagaagacat
     1681 caaagattat tacacagatc tttccatcct tcagaaggac gttaaggtgc ctacaaaggt
     1741 gttatgtatt ctctgggaca tggaaactga agaagttgaa gacatactgc aggagtttgt
     1801 aaataagtct cttttattct gtgatcggaa tggaaagtcg tttcgttatt atttacatga
     1861 tcttcaagta gattttctta cagagaagaa ttgcagccag cttcaggatc tacataagaa
     1921 gataatcact cagtttcaga gatatcacca gccgcatact ctttcaccag atcaggaaga
     1981 ctgtatgtat tggtacaact ttctggccta tcacatggcc agtgccaaga tgcacaagga
     2041 actttgtgct ttaatgtttt ccctggattg gattaaagca aaaacagaac ttgtaggccc
     2101 tgctcatctg attcatgaat ttgtggaata cagacatata ctagatgaaa aggattgtgc
     2161 agtcagtgag aattttcagg agtttttatc tttaaatgga caccttcttg gacgacagcc
     2221 atttcctaat attgtacaac tgggtctctg tgagccggaa acttcagaag tttatcagca
     2281 agctaagctg caggccaagc aggaggtcga taatggaatg ctttacctgg aatggataaa
     2341 caaaaaaaac atcacgaatc tttcccgctt agttgtccgc ccccacacag atgctgttta
     2401 ccatgcctgc ttttctgagg atggtcagag aatagcttct tgtggagctg ataaaacctt
     2461 acaggtgttc aaagctgaaa caggagagaa acttctagaa atcaaggctc atgaggatga
     2521 agtgctttgt tgtgcattct ctacagatga cagatttata gcaacctgct cagtggataa
     2581 aaaagtgaag atttggaatt ctatgactgg ggaactagta cacacctatg atgagcactc
     2641 agagcaagtc aattgctgcc atttcaccaa cagtagtcat catcttctct tagccactgg
     2701 gtcaagtgac tgcttcctca aactttggga tttgaatcaa aaagaatgtc gaaataccat
     2761 gtttggtcat acaaattcag tcaatcactg cagattttca ccagatgata agcttttggc
     2821 tagttgttca gctgatggaa ccttaaagct ttgggatgcg acatcagcaa atgagaggaa
     2881 aagcattaat gtgaaacagt tcttcctaaa tttggaggac cctcaagagg atatggaagt
     2941 gatagtgaag tgttgttcgt ggtctgctga tggtgcaagg ataatggtgg cagcaaaaaa
     3001 taaaatcttt ctttttgaca ttcatactag tggcctattg ggagaaatcc acacgggcca
     3061 tcacagcacc atccagtact gtgacttctc cccacaaaac catttggcag tggttgcttt
     3121 gtcccagtac tgtgtagagt tgtggaatac agactcacgt tcaaaggtgg ctgattgcag
     3181 aggacattta agttgggttc atggtgtgat gttttctcct gatggatcat catttttgac
     3241 atcttctgat gaccagacaa tcaggctctg ggagacaaag aaagtatgta agaactctgc
     3301 tgtaatgtta aagcaagaag tagatgttgt gtttcaagaa aatgaagtga tggtccttgc
     3361 agttgaccat ataagacgtc tgcaactcat taatggaaga acaggtcaga ttgattatct
     3421 gactgaagct caagttagct gctgttgctt aagtccacat cttcagtaca ttgcatttgg
     3481 agatgaaaat ggagccattg agattttaga acttgtaaac aatagaatct tccagtccag
     3541 gtttcagcac aagaaaactg tatggcacat ccagttcaca gccgatgaga agactcttat
     3601 ttcaagttct gatgatgctg aaattcaggt atggaattgg caattggaca aatgtatctt
     3661 tctacgaggc catcaggaaa cagtgaaaga ctttagactc ttgaaaaatt caagactgct
     3721 ttcttggtca tttgatggaa cagtgaaggt atggaatatt attactggaa ataaagaaaa
     3781 agactttgtc tgtcaccagg gtacagtact ttcttgtgac atttctcacg atgctaccaa
     3841 gttttcatct acctctgctg acaagactgc aaagatctgg agttttgatc tccttttgcc
     3901 acttcatgaa ttgaggggcc acaacggctg tgtgcgctgc tctgccttct ctgtggacag
     3961 taccctgctg gcaacgggag atgacaatgg agaaatcagg atatggaatg tctcaaacgg
     4021 tgagcttctt catttgtgtg ctccgctttc agaagaagga gctgctaccc atggaggctg
     4081 ggtgactgac ctttgctttt ctccagatgg caaaatgctt atctctgctg gaggatatat
     4141 taagtggtgg aacgttgtca ctggggaatc ctcacagacc ttctacacaa atggaaccaa
     4201 tcttaagaaa atacacgtgt cccctgactt caaaacatat gtgactgtgg ataatcttgg
     4261 tattttatat attttacaga ctttagaata aaatagttaa gcattaatgt agttgaactt
     4321 tttaaatttt tgaattggaa aaaaattcta atgaaaccct gatatcaact ttttataaag
     4381 ctcttaattg ttgtgcagta ttgcattcat tacaaaagtg tttgtggttg gatgaataat
     4441 attaatgtag ctttttccca aatgaacata cctttaatct tgtttttcat gatcatcatt
     4501 aacagtttgt ccttaggatg caaatgaaaa tgtgaataca taccttgttg tactgttggt
     4561 aaaattctgt cttgatgcat tcaaaatggt tgacataatt aatgagaaga atttggaaga
     4621 aattggtatt ttaatactgt ctgtatttat tactgttatg caggctgtgc ctcagggtag
     4681 cagtggcctg ctttttgaac cacacttacc ccaagggggt tttgttctcc taaatacaat
     4741 cttagaggtt ttttgcactc tttaaatttg ctttaaaaat attgtgtctg tgtgcatagt
     4801 ctgcagcatt tcctttaatt gactcaataa gtgagtcttg gatttagcag gcccccccac
     4861 cttttttttt tgtttttgga gacagagtct tgctttgttg ccaggctgga gtgcagtggc
     4921 gcgatctcgg ctcaccacaa tcgctgcctc ctgggttcaa gcaattctcc tgcctcagcc
     4981 tcccgagtag ctgggactac aggtgtgcgc acatgccagg ctaatttttg tatttttagt
     5041 agagacgggg tttcaccatg ttggccggga tggtctcgat ctcttgacct catgatctac
     5101 ccgccttggc ctcccaaagt gctgagatta caggcgtgag ccaccgtgcc tggccaggcc
     5161 ccttctcttt taatggagac agggtcttgc actatcaccc aggctggagt gcagtggcat
     5221 aatcatacct cattgcagcc tcagactcct gggttcaagc aatcctcctg cctcagcctc
     5281 ccaagtagct gagactgcag gcacgagcca ccacacccag ctaattttta agttttcttg
     5341 tagagacagg gtctcactat gttgtctagg ctggtcttga actcttggcc tcaagtaatc
     5401 ctcctgcctc agcctcccaa agtgttggga ttgcagatat gagccactgg cctggccttc
     5461 agcagttctt tttgtgaagt aaaacttgta tgttggaaag agtagatttt attggtctac
     5521 ccttttctca ctgtagctgc tggcagccct gtgccatatc tggactctag ttgtcagtat
     5581 ctgagttgga cactattcct gctccctctt gtttcttaca tatcagactt cttacttgaa
     5641 tgaaacctga tctttcctaa tcctcacttt tttctttttt aaaaagcagt ttctccactg
     5701 ctaaatgtta gtcattgagg tggggccaat tttaatcata agccttaata agatttttct
     5761 aagaaatgtg aaatagaaca attttcatct aattccattt acttttagat gaatggcatt
     5821 gtgaatgcca ttcttttaat gaatttcaag agaattctct ggttttctgt gtaattccag
     5881 atgagtcact gtaactctag aagattaacc ttccagccaa cctattttcc tttcccttgt
     5941 ctctctcatc ctcttttcct tccttctttc ctttctcttc ttttatctcc aaggttaatc
     6001 aggaaaaata gcttttgaca ggggaaaaaa ctcaataact agctattttt gacctcctga
     6061 tcaggaactt tagttgaagc gtaaatctaa agaaacattt tctctgaaat atattattaa
     6121 gggcaatgga gataaattaa tagtagatgt ggttcccaga aaatataatc aaaattcaaa
     6181 gatttttttt gtttctgtaa ctggaactaa atcaaatgat tactagtgtt aatagtagat
     6241 aacttgtttt tattgttggt gcatattagt ataactgtgg ggtaggtcgg ggagagggta
     6301 agggaataga tcactcagat gtattttaga taagctattt agcctttgat ggaatcataa
     6361 atacagtgaa tacaatcctt tgcattgtta aggaggtttt ttgtttttaa atggtgggtc
     6421 aaggagctag tttacaggct tactgtgatt taagcaaatg tgaaaagtga aaccttaatt
     6481 ttatcaaaag aaatttctgt aaatggtatg tctccttaga atacccaaat cataatttta
     6541 tttgtacaca ctgttagggg ctcatctcat gtaggcagag tataaagtat taccttttgg
     6601 aattaaaagc cactgactgt tataaagtat aacaacacac atcaggtttt aaaaagcctt
     6661 gaatggccct tgtcttaaaa agaaattagg agccaggtgc ggtggcacgt gcctgtagtc
     6721 ccagctcctt gggaggctga gacaggagga ttccttgagc cctggagttt gagtccagcc
     6781 tgggtgacat agcaagaccc tgtcttaaaa gaaaaatggg aagaaagaca aggtaacatg
     6841 aagaaagaag agatacctag tatgatggag ctgcaaattt catggcagtt catgcagtcg
     6901 gtcaagagga ggattttgtt ttgtagtttg cagatgagca tttctaaagc attttccctt
     6961 gctgtatttt tttgtattat aaattacatt ggacttcata tatataattt ttttttacat
     7021 tatatgtctc ttgtatgttt tgaaactctt gtatttatga tatagcttat atgatttttt
     7081 tgccttggta tacattttaa aatatgaatt taaaaaattt ttgtaaaaat aaaattcaca
     7141 aaattgtttt gaaaaacaaa aaaaaaaaaa a
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: M10942. Human metallothio...[gi:187538] Links  


LOCUS       HUMMETIE                1763 bp    DNA     linear   PRI 07-JAN-1995
DEFINITION  Human metallothionein-Ie gene (hMT-Ie).
ACCESSION   M10942
VERSION     M10942.1  GI:187538
KEYWORDS    metallothionein.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1763)
  AUTHORS   Schmidt,C.J., Jubier,M.F. and Hamer,D.H.
  TITLE     Structure and expression of two human metallothionein-I isoform
            genes and a related pseudogene
  JOURNAL   J. Biol. Chem. 260 (12), 7731-7737 (1985)
  MEDLINE   85207825
   PUBMED   2581970
COMMENT     Original source text: Human placental DNA, library of P.Leder.
            The significance of conserved sequences in the human
            metallothionein multi-gene family is discussed; evolutionary
            comparisons and their implications are also considered.  A
            potential polyadenylation signal can be found at 1722-1727.
FEATURES             Location/Qualifiers
     source          1..1763
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /map="16q13"
     prim_transcript 412..>1763
                     /note="hMT-Ie mRNA (alt.)"
     prim_transcript 417..>1763
                     /note="hMT-Ie mRNA (alt.)"
     CDS             join(483..510,1098..1163,1512..1603)
                     /partial
                     /gene="MT1E"
                     /note="human metallothionein-Ie"
                     /codon_start=1
                     /protein_id="AAA59587.1"
                     /db_xref="GI:386865"
                     /db_xref="GDB:G00-125-569"
                     /translation="MDPNCSCATGGSCTCAGSCKCKECKCTSCKKSCCSCCPVGCAKC
                     AQGCVCKGASEKCSCCA"
     gene            join(483..510,1098..1163,1512..1602)
                     /gene="MT1E"
     exon            <483..510
                     /gene="MT1E"
                     /note="human metallothionein-Ie, old gene name 'MT1'"
                     /number=1
     intron          511..1097
                     /gene="MT1E"
                     /note="hMT-Ie intron A"
     exon            1098..1163
                     /gene="MT1E"
                     /number=2
     intron          1164..1511
                     /gene="MT1E"
                     /note="hMT-Ie intron B"
     exon            1512..>1603
                     /note="human metallothionein-Ie"
                     /number=3
BASE COUNT      341 a    507 c    518 g    397 t
ORIGIN      3 bp upstream of SmaI site; chromosome 16q21-q22.1.
        1 cccgggacgg cagcaggtgg gctgcacacg gactctggga caagtcgagc tgaaaaccgc
       61 ggagcagggg tggggtggag acgcccgcga cgccaaggct ggggtcccgg aacacgctgg
      121 gaggagggtg gaaggcaacc tcggggaaac tgggaaaggc ggcctggact tcgggaacac
      181 cgcgtacctg cgggggcaca gcccacccga gcgaacgggc tccaaaggga aggtcccgcg
      241 gtgcccaccg gcagagctca gggggtggtg cgcccggccc ttctgcggcg cacagcccag
      301 cccaggaacg cgggcggtgc ggactcagcg ggccgggtgc aggcgcggag ctgggcctct
      361 gcgcccggcc cgacctccgt ctataaatag agcagccagt tgcagggctc cattctgctt
      421 tccaactgcc tgactgcttg ttcgtctcac tggtgtgagc tccagcatcc cctttgctcg
      481 aaatggaccc caactgctct tgcgccactg gtaagggaag ctctgcgccc tggaatcccc
      541 atttcccagc cctattacag agggtctctg ggtttcagga agtcgcattt taagttctga
      601 gcgacgggga ctccagtact tcgttagatg ctttcttcct gatcacgccc ctgagagcat
      661 tgccctcatc cctgggcctc tacgtcagag ttaagaatac tgaggctcaa ggctgaactg
      721 ctccacatca cccagttggt catgggcctg ctggctgggc cccagtgctc tgtccaggct
      781 ctgagcaatc agtgtggttg ggggtgctgg aaacattgac tcttcagagt tcaggacaga
      841 aggttctggc tcgcagtctc aatattcctg ggttgtatgt gcacgtggga ccttcctggt
      901 gcggtaaaac aggagggtcc ttgccccttc cccagcgtta gtgagaggac atggggcttc
      961 tgttcctctg tcctgagtgg gaaaggagct ctgagggctg gccctgcaca gaggaggggg
     1021 cactggagac tcactgaccc actgctgtac cttctgcatc tcactcactg cccactgcgt
     1081 tttcctcttc cttgtaggtg gctcctgcac gtgcgccggc tcctgcaagt gcaaagagtg
     1141 caaatgcacc tcctgcaaga agagtgagtg cggggccatc tccaggaatc tggggctgtg
     1201 gctcaggttg ggagggaact caaggctggc cctgagtgca tccttctggg gaactgggct
     1261 ttctttgccc tcattgcccg tgtcattccc tctccaggct ttctgcccta aattcagatg
     1321 gggcaggaca gcatttttct cgtgggacac aaaccccaac tgtaccccct atggtttcag
     1381 aacagagctg tgccagacga aaaaaagcat cctctgggtc tgggttctga gctcgagcca
     1441 ggcttgctat tagggcaggg aggtgcccgg tcaagtctac tgccacctct cactctcccc
     1501 ttcttcccca ggctgctgtt cctgctgccc cgtgggctgt gccaagtgtg cccagggctg
     1561 cgtctgcaaa ggggcatcgg agaagtgcag ctgctgtgcc tgatgtggga acagctcttc
     1621 tcccagatgt aaatagaaca acctgcacaa cctggatttt tttaaaaata caacactgag
     1681 ccatttgctg catttctttt tatactaaat atgtgactga caataaaaac aattttgact
     1741 ttaatcttac tccctgttct tct
//



Revised: July 5, 2002.
 
 


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1: M10942. Human metallothio...[gi:187538] Links  


LOCUS       HUMMETIE                1763 bp    DNA     linear   PRI 07-JAN-1995
DEFINITION  Human metallothionein-Ie gene (hMT-Ie).
ACCESSION   M10942
VERSION     M10942.1  GI:187538
KEYWORDS    metallothionein.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1763)
  AUTHORS   Schmidt,C.J., Jubier,M.F. and Hamer,D.H.
  TITLE     Structure and expression of two human metallothionein-I isoform
            genes and a related pseudogene
  JOURNAL   J. Biol. Chem. 260 (12), 7731-7737 (1985)
  MEDLINE   85207825
   PUBMED   2581970
COMMENT     Original source text: Human placental DNA, library of P.Leder.
            The significance of conserved sequences in the human
            metallothionein multi-gene family is discussed; evolutionary
            comparisons and their implications are also considered.  A
            potential polyadenylation signal can be found at 1722-1727.
FEATURES             Location/Qualifiers
     source          1..1763
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /map="16q13"
     prim_transcript 412..>1763
                     /note="hMT-Ie mRNA (alt.)"
     prim_transcript 417..>1763
                     /note="hMT-Ie mRNA (alt.)"
     CDS             join(483..510,1098..1163,1512..1603)
                     /partial
                     /gene="MT1E"
                     /note="human metallothionein-Ie"
                     /codon_start=1
                     /protein_id="AAA59587.1"
                     /db_xref="GI:386865"
                     /db_xref="GDB:G00-125-569"
                     /translation="MDPNCSCATGGSCTCAGSCKCKECKCTSCKKSCCSCCPVGCAKC
                     AQGCVCKGASEKCSCCA"
     gene            join(483..510,1098..1163,1512..1602)
                     /gene="MT1E"
     exon            <483..510
                     /gene="MT1E"
                     /note="human metallothionein-Ie, old gene name 'MT1'"
                     /number=1
     intron          511..1097
                     /gene="MT1E"
                     /note="hMT-Ie intron A"
     exon            1098..1163
                     /gene="MT1E"
                     /number=2
     intron          1164..1511
                     /gene="MT1E"
                     /note="hMT-Ie intron B"
     exon            1512..>1603
                     /note="human metallothionein-Ie"
                     /number=3
BASE COUNT      341 a    507 c    518 g    397 t
ORIGIN      3 bp upstream of SmaI site; chromosome 16q21-q22.1.
        1 cccgggacgg cagcaggtgg gctgcacacg gactctggga caagtcgagc tgaaaaccgc
       61 ggagcagggg tggggtggag acgcccgcga cgccaaggct ggggtcccgg aacacgctgg
      121 gaggagggtg gaaggcaacc tcggggaaac tgggaaaggc ggcctggact tcgggaacac
      181 cgcgtacctg cgggggcaca gcccacccga gcgaacgggc tccaaaggga aggtcccgcg
      241 gtgcccaccg gcagagctca gggggtggtg cgcccggccc ttctgcggcg cacagcccag
      301 cccaggaacg cgggcggtgc ggactcagcg ggccgggtgc aggcgcggag ctgggcctct
      361 gcgcccggcc cgacctccgt ctataaatag agcagccagt tgcagggctc cattctgctt
      421 tccaactgcc tgactgcttg ttcgtctcac tggtgtgagc tccagcatcc cctttgctcg
      481 aaatggaccc caactgctct tgcgccactg gtaagggaag ctctgcgccc tggaatcccc
      541 atttcccagc cctattacag agggtctctg ggtttcagga agtcgcattt taagttctga
      601 gcgacgggga ctccagtact tcgttagatg ctttcttcct gatcacgccc ctgagagcat
      661 tgccctcatc cctgggcctc tacgtcagag ttaagaatac tgaggctcaa ggctgaactg
      721 ctccacatca cccagttggt catgggcctg ctggctgggc cccagtgctc tgtccaggct
      781 ctgagcaatc agtgtggttg ggggtgctgg aaacattgac tcttcagagt tcaggacaga
      841 aggttctggc tcgcagtctc aatattcctg ggttgtatgt gcacgtggga ccttcctggt
      901 gcggtaaaac aggagggtcc ttgccccttc cccagcgtta gtgagaggac atggggcttc
      961 tgttcctctg tcctgagtgg gaaaggagct ctgagggctg gccctgcaca gaggaggggg
     1021 cactggagac tcactgaccc actgctgtac cttctgcatc tcactcactg cccactgcgt
     1081 tttcctcttc cttgtaggtg gctcctgcac gtgcgccggc tcctgcaagt gcaaagagtg
     1141 caaatgcacc tcctgcaaga agagtgagtg cggggccatc tccaggaatc tggggctgtg
     1201 gctcaggttg ggagggaact caaggctggc cctgagtgca tccttctggg gaactgggct
     1261 ttctttgccc tcattgcccg tgtcattccc tctccaggct ttctgcccta aattcagatg
     1321 gggcaggaca gcatttttct cgtgggacac aaaccccaac tgtaccccct atggtttcag
     1381 aacagagctg tgccagacga aaaaaagcat cctctgggtc tgggttctga gctcgagcca
     1441 ggcttgctat tagggcaggg aggtgcccgg tcaagtctac tgccacctct cactctcccc
     1501 ttcttcccca ggctgctgtt cctgctgccc cgtgggctgt gccaagtgtg cccagggctg
     1561 cgtctgcaaa ggggcatcgg agaagtgcag ctgctgtgcc tgatgtggga acagctcttc
     1621 tcccagatgt aaatagaaca acctgcacaa cctggatttt tttaaaaata caacactgag
     1681 ccatttgctg catttctttt tatactaaat atgtgactga caataaaaac aattttgact
     1741 ttaatcttac tccctgttct tct
//



Revised: July 5, 2002.
 
 


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1: NM_018042. Homo sapiens hypo...[gi:8922317] Links  


LOCUS       FLJ10260                2369 bp    mRNA    linear   PRI 14-MAY-2002
DEFINITION  Homo sapiens hypothetical protein FLJ10260 (FLJ10260), mRNA.
ACCESSION   NM_018042
VERSION     NM_018042.1  GI:8922317
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2369)
  AUTHORS   Isogai,T. and Otsuki,T.
  TITLE     Homo sapiens hypothetical protein FLJ10260 (FLJ10260), mRNA
  JOURNAL   Unpublished (2000)
COMMENT     PREDICTED REFSEQ: The mRNA record is supported by experimental
            evidence; however, the coding sequence is predicted. The reference
            sequence was derived from AK001122.1.
FEATURES             Location/Qualifiers
     source          1..2369
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
                     /clone="HEMBB1000973"
                     /tissue_type="whole embryo, mainly body"
                     /clone_lib="HEMBB1"
                     /dev_stage="embryo, 10 weeks"
                     /note="cloning vector: pME18SFL3"
     gene            1..2369
                     /gene="FLJ10260"
                     /db_xref="LocusID:55106"
     CDS             354..2090
                     /gene="FLJ10260"
                     /codon_start=1
                     /evidence=not_experimental
                     /product="hypothetical protein FLJ10260"
                     /protein_id="NP_060512.1"
                     /db_xref="GI:8922318"
                     /db_xref="LocusID:55106"
                     /translation="MNISVDLETNYAELVLDVGRVTLGENSRKKMKDCKLRKKQNESV
                     SRAMCALLNSGGGVIKAEIENEDYSYTKDGIGLDLENSFSNILLFVPEYLDFMQNGNY
                     FLIFVKSWSLNTSGLRITTLSSNLYKRDITSAKVMNATAALEFLKDMKKTRGRLYLRP
                     ELLAKRPCVDIQEENNMKALAGVFFDRTELDRKEKLTFTESTHVEIKNFSTEKLLQRI
                     KEILPQYVSAFANTDGGYLFIGLNEDKEIIGFKAEMSDLDDLEREIEKSIRKMPVHHF
                     CMEKKKINYSCKFLGVYDKGSLCGYVCALRVERFCCAVFAKEPDSWHVKDNRVMQLTR
                     KEWIQFMVEAEPKFSSSYEEVISQINASLPAPHSWPLLEWQRQRHHCPGLSGRITYTP
                     ENLCRKLFLQHEGLKQLICEEMDSVRKGSLIFSRSWSVDLGLQENHKVLCDALLISQD
                     SPPVLYTFHMVQDEEFKGYSTQTALTLKQKLAKIGGYTKKVCVMTKIFYLSPEGMTSC
                     QYDLRSQVIYPESYYFTRRKYLLKALFKALKRLKSLRDQFSFAENLYQIIGIDCFQKN
                     DKKMFKSCRRLT"
     variation       complement(855)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2586514"
     variation       complement(855)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3744368"
     variation       complement(1849)
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3744372"
BASE COUNT      731 a    426 c    510 g    702 t
ORIGIN      
        1 attgatcgct ttctgcaacc attcagactg atctcgggct cctatttcat ttacattgtg
       61 tgcacaccaa gtaaccagtg ggaaaacttt agagggtact taaaccccag aaaattctga
      121 aaccgggctc ttgagccgct atcctcgggc ctgctcccac cctgtggagt gcactttcgt
      181 tttcaataaa tctctgcttt tgttgcttca ttctttcctt gctttgtttg tgtgtttgtc
      241 cagttctttg ttcaacacgc caagaacctg gacactcttc actggtaaca tattttggca
      301 agccaaccag gagaaaagaa tttctgcttg gacactgcat agctgctggg aaaatgaaca
      361 tcagtgttga tttggaaacg aattatgccg agttggttct agatgtggga agagtcactc
      421 ttggagagaa cagtaggaaa aaaatgaagg attgtaaact gagaaaaaag cagaatgaaa
      481 gtgtctcacg agctatgtgt gctctgctca attctggagg gggagtgatc aaggctgaaa
      541 ttgagaatga agactatagt tatacaaaag atggaatagg actagatttg gaaaattctt
      601 ttagtaacat tctgttattt gttcctgagt acttagactt catgcagaat ggtaactact
      661 ttctgatttt tgtgaagtca tggagcttga acacctctgg tctgcggatt accaccttga
      721 gctccaattt gtacaaaaga gatataacat ctgcaaaagt catgaatgcc actgctgcac
      781 tggagttcct caaagacatg aaaaagacta gagggagatt gtatttaaga ccagaattgc
      841 tggcaaagag gccctgtgtt gatatacaag aagaaaataa catgaaggcc ttggccgggg
      901 ttttttttga tagaacagaa cttgatcgga aagaaaaatt gacctttact gaatccacac
      961 atgttgaaat taaaaacttc tcgacagaaa agttgttaca acgaattaaa gagattctcc
     1021 ctcaatatgt ttctgcattt gcaaatactg atggaggata tttgttcatt ggtttaaatg
     1081 aagataaaga aataattggc tttaaagcag agatgagtga cctcgatgac ttagaaagag
     1141 aaatcgaaaa gtccattagg aagatgcctg tgcatcactt ctgtatggag aagaagaaga
     1201 taaattattc atgcaaattc cttggggtat atgataaagg aagtctttgt ggatatgtct
     1261 gtgcactcag agtggagcgc ttctgctgtg cagtgtttgc taaagagcct gattcctggc
     1321 atgtgaaaga taaccgtgtg atgcagttga ccaggaagga atggatccag ttcatggtgg
     1381 aggctgaacc aaaattttcc agttcatatg aagaggtgat ctctcaaata aatgcgtcat
     1441 tacctgctcc ccacagttgg cctcttttgg aatggcaacg gcagagacat cactgtccag
     1501 ggctatcagg aaggataacg tatactccag aaaacctttg cagaaaactg ttcttacaac
     1561 atgaaggact taagcaatta atatgtgaag aaatggactc tgtcagaaag ggctcactga
     1621 tcttctctag gagctggtct gtggatctgg gcttgcaaga gaaccacaaa gtcctctgtg
     1681 atgctcttct gatttcccag gacagtcctc cagtcctata caccttccac atggtacagg
     1741 atgaggagtt taaaggctat tctacacaaa ctgccctaac cttaaagcag aagctggcaa
     1801 aaattggtgg ttacactaaa aaagtgtgtg tcatgacaaa gatcttctac ttgagccctg
     1861 aaggcatgac aagctgccag tatgatttaa ggtcgcaagt aatttaccct gaatcctact
     1921 attttacaag aaggaaatac ttgctgaaag ccctttttaa agccttaaag agactcaagt
     1981 ctctgagaga ccagttttcc tttgcagaaa atctatacca gataatcggt atagattgct
     2041 ttcagaagaa tgataaaaag atgtttaaat cttgtcgaag gctcacctga tggaaaatgg
     2101 actgggctac tgagatattt ttcattatat atttgataac attctctaat tctgtgaaaa
     2161 tatttctttg aaaactttgc aagttaagca acttgatgtg atgttggata attgggtttt
     2221 gtctattttc acttctccct aaataatctt cacagatatt gtttgaggga tattaggaaa
     2281 attaatttgt taactcgtct gtgcacagta ttatttactc tgtctgtagt tcctgaataa
     2341 attttcttcc atgcttgaaa aaaaaaaat
//



Revised: July 5, 2002.
 
 


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1: NM_017946. Homo sapiens FK50...[gi:8923658] Links  


LOCUS       FKBP14                  2248 bp    mRNA    linear   PRI 05-SEP-2002
DEFINITION  Homo sapiens FK506 binding protein 14, 22 kDa (FKBP14), mRNA.
ACCESSION   NM_017946
VERSION     NM_017946.1  GI:8923658
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2248)
  AUTHORS   Patterson,C.E., Gao,J., Rooney,A.P. and Davis,E.C.
  TITLE     Genomic Organization of Mouse and Human 65 kDa FK506-Binding
            Protein Genes and Evolution of the FKBP Multigene Family
  JOURNAL   Genomics 79 (6), 881-889 (2002)
  MEDLINE   22032991
   PUBMED   12036304
REFERENCE   2  (sites)
  AUTHORS   Kawakami,T., Noguchi,S., Itoh,T., Shigeta,K., Senba,T.,
            Matsumura,K., Nakajima,Y., Mizuno,T., Morinaga,M., Ota,T.,
            Suzuki,Y., Obayashi,M., Nishi,T., Shibahara,T., Tanaka,T.,
            Nakamura,Y., Isogai,T. and Sugano,S.
  TITLE     NEDO human cDNA sequencing project
  JOURNAL   Unpublished
COMMENT     PREDICTED REFSEQ: The mRNA record is supported by experimental
            evidence; however, the coding sequence is predicted. The reference
            sequence was derived from AK000738.1.
FEATURES             Location/Qualifiers
     source          1..2248
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p15.3"
                     /clone="HEP10272"
                     /cell_line="HepG2"
                     /cell_type="hepatoma"
                     /clone_lib="HEP"
                     /note="cloning vector pME18SFL3"
     gene            1..2248
                     /gene="FKBP14"
                     /note="FKBP22; FLJ20731"
                     /db_xref="LocusID:55033"
     CDS             146..781
                     /gene="FKBP14"
                     /note="hypothetical protein FLJ20731; FK506 binding
                     protein 14 (22 kDa)"
                     /codon_start=1
                     /evidence=not_experimental
                     /product="FK506 binding protein 14, 22 kDa"
                     /protein_id="NP_060416.1"
                     /db_xref="GI:8923659"
                     /db_xref="LocusID:55033"
                     /translation="MRLFLWNAVLTLFVTSLIGALIPEPEVKIEVLQKPFICHRKTKG
                     GDLMLVHYEGYLEKDGSLFHSTHKHNNGQPIWFTLGILEALKGWDQGLKGMCVGEKRK
                     LIIPPALGYGKEGKGKIPPESTLIFNIDLLEIRNGPRSHESFQEMDLNDDWKLSKDEV
                     KAYLKKEFEKHGAVVNESHHDALVEDIFDKEDEDKDGFISAREFTYKHDEL"
     misc_feature    257..541
                     /gene="FKBP14"
                     /note="Region: pfam00254, FKBP, FKBP-type peptidyl-prolyl
                     cis-trans isomerase"
     variation       1774
                     /gene="FKBP14"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1061148"
     variation       1778
                     /gene="FKBP14"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1061149"
BASE COUNT      654 a    430 c    509 g    655 t
ORIGIN      
        1 aacaatgtgc cacgtcttct aagaaggggg agtcctgaac ttgtctgaag cccttgtccg
       61 taagccttga actacgttct taaatctatg aagtcgaggg acctttcgct gcttttgtag
      121 ggacttcttt ccttgcttca gcaacatgag gcttttcttg tggaacgcgg tcttgactct
      181 gttcgtcact tctttgattg gggctttgat ccctgaacca gaagtgaaaa ttgaagttct
      241 ccagaagcca ttcatctgcc atcgcaagac caaaggaggg gatttgatgt tggtccacta
      301 tgaaggctac ttagaaaagg acggctcctt atttcactcc actcacaaac ataacaatgg
      361 tcagcccatt tggtttaccc tgggcatcct ggaggctctc aaaggttggg accagggctt
      421 gaaaggaatg tgtgtaggag agaagagaaa gctcatcatt cctcctgctc tgggctatgg
      481 aaaagaagga aaaggtaaaa ttcccccaga aagtacactg atatttaata ttgatctcct
      541 ggagattcga aatggaccaa gatcccatga atcattccaa gaaatggatc ttaatgatga
      601 ctggaaactc tctaaagatg aggttaaagc atatttaaag aaggagtttg aaaaacatgg
      661 tgcggtggtg aatgaaagtc atcatgatgc tttggtggag gatatttttg ataaagaaga
      721 tgaagacaaa gatgggttta tatctgccag agaatttaca tataaacacg atgagttata
      781 gagatacatc taccctttta atatagcact catctttcaa gagagggcag tcatctttaa
      841 agaacatttt atttttatac aatgttcttt cttgctttgt tttttatttt tatatatttt
      901 ttctgactcc tatttaaaga accccttagg tttctaagta cccatttctt tctgataagt
      961 tattgggaag aaaaagctaa ttggtctttg aatagaagac ttctggacaa tttttcactt
     1021 tcacagatat gaagctttgt tttactttct cacttataaa tttaaaatgt tgcaactggg
     1081 aatataccac gacatgagac caggttatag cacaaattag caccctatat ttctgcttcc
     1141 ctctattttc tccaagttag aggtcaacat ttgaaaagcc ttttgcaata gcccaaggct
     1201 tgctattttc atgttataat gaaatagttt atgtgtaact ggctctgagt ctctgcttga
     1261 ggaccagagg aaaatggttg ttggacctga cttgttaatg gctactgctt tactaaggag
     1321 atgtgcaatg ctgaagttag aaacaaggtt aatagccagg catggtggct catgcctgta
     1381 atcccagcac tttgggaggc tgaggcgggc ggatcacctg aggttgggag ttcgagacca
     1441 gcctgaccaa cacggagaaa ccctatctct actaaaaata caaaagtagc cgggcgtggt
     1501 gatgcgtgcc tgtaatccca gctacccagg aaggctgagg cggcagaatc acttgaaccc
     1561 ggaggcggag gttgcggtaa gccgagatca cctccagcct ggacactctg tctcgaaaaa
     1621 aagaaaagaa acacggttaa taacatataa atatgtatgc attgagacat gctacctagg
     1681 acttaagctg atgaagcttg gctcctagtg attggtggcc tattatgata aataggacaa
     1741 atcatttatg tgtgagtttc tttgtaataa aatgtatcaa tatgttatag atgaggtaga
     1801 aagttatatt tatattcaat atttacttct taaggctagc ggaatatcct tcctggttct
     1861 ttaatgggta gtctatagta tattatacta caataacatt gtatcataag ataaagtagt
     1921 aaaccagtct acattttccc atttctgtct catcaaaaac tgaagttagc tgggtgtggt
     1981 ggctcatgcc tgtaatccca gcactttggg ggccaaggag ggtggatcac ttgagatcag
     2041 gagttcaaga ccagcctggc caacatggtg aaaccttgtc tctactaaaa atacaaaaat
     2101 tagccaggcg tggtggtgca cacctgtagt cccagctact cgggaggctg agacaggaga
     2161 tttgcttgaa cccgggaggc ggaggttgca gtgagccaag attgtgccac tgcactccag
     2221 cctgggtgac agagcaagac tccatctc
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_006815. Homo sapiens coat...[gi:21314646] Links  


LOCUS       RNP24                   2060 bp    mRNA    linear   PRI 03-JUN-2002
DEFINITION  Homo sapiens coated vesicle membrane protein (RNP24), mRNA.
ACCESSION   NM_006815
VERSION     NM_006815.2  GI:21314646
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2060)
  AUTHORS   Blum,R., Feick,P., Puype,M., Vandekerckhove,J., Klengel,R.,
            Nastainczyk,W. and Schulz,I.
  TITLE     Tmp21 and p24A, two type I proteins enriched in pancreatic
            microsomal membranes, are members of a protein family involved in
            vesicular trafficking
  JOURNAL   J. Biol. Chem. 271 (29), 17183-17189 (1996)
  MEDLINE   96291865
   PUBMED   8663407
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC025957.1.
            On Jun 3, 2002 this sequence version replaced gi:5803148.
FEATURES             Location/Qualifiers
     source          1..2060
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
                     /clone="MGC:39201 IMAGE:5020405"
                     /tissue_type="Muscle, rhabdomyosarcoma"
                     /clone_lib="NIH_MGC_17"
                     /lab_host="DH10B-R"
                     /note="Vector: pOTB7"
     gene            1..2060
                     /gene="RNP24"
                     /note="P24A"
                     /db_xref="LocusID:10959"
     CDS             24..629
                     /gene="RNP24"
                     /codon_start=1
                     /product="coated vesicle membrane protein"
                     /protein_id="NP_006806.1"
                     /db_xref="GI:5803149"
                     /db_xref="LocusID:10959"
                     /translation="MVTLAELLVLLAALLATVSGYFVSIDAHAEECFFERVTSGTKMG
                     LIFEVAEGGFLDIDVEITGPDNKGIYKGDRESSGKYTFAAHMDGTYKFCFSNRMSTMT
                     PKIVMFTIDIGEAPKGQDMETEAHQNKLEEMINELAVAMTAVKHEQEYMEVRERIHRA
                     INDNTNSRVVLWSFFEALVLVAMTLGQIYYLKRFFEVRRVV"
     misc_feature    78..626
                     /gene="RNP24"
                     /note="EMP24_GP25L; Region: emp24/gp25L/p24 family"
                     /db_xref="CDD:pfam01105"
     variation       complement(1365)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:14442"
     variation       complement(1593)
                     /allele="A"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:6551"
     variation       1972
                     /gene="RNP24"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3168402"
     variation       1997
                     /gene="RNP24"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1049966"
BASE COUNT      573 a    389 c    417 g    681 t
ORIGIN      
        1 ctggcttcgg cctcagcccc accatggtga cgcttgctga actgctggtg ctcctggccg
       61 ctctcctggc cacggtctcg ggctatttcg ttagcatcga cgcccatgct gaagagtgct
      121 tctttgagcg ggtcacctcg ggcaccaaga tgggcctcat cttcgaggtg gcggagggcg
      181 gcttcctgga catcgacgtg gagattacag gaccagataa caaaggaatt tacaaaggag
      241 acagagaatc cagtgggaaa tacacatttg ctgctcacat ggatggaaca tacaaatttt
      301 gttttagtaa ccggatgtcc accatgactc caaaaatagt gatgttcacc attgatattg
      361 gggaggctcc aaaaggacaa gatatggaaa cagaagctca ccagaacaag ctagaagaaa
      421 tgatcaatga gctagcagtg gcgatgacag ctgtaaagca cgaacaggaa tacatggaag
      481 tccgggagag aatacacaga gccatcaacg acaacacaaa cagcagagtg gtcctttggt
      541 ccttctttga agctcttgtt ctagttgcca tgacattggg acagatctac tacctgaaga
      601 gattttttga agtccggaga gttgtttaaa aagcctcttc ctgatgatcc caactcagaa
      661 ttcactgttt accaaacacc ttggtcataa taatgtcatt agtttctcca tttttatttt
      721 ctgaactgta cattcacaac ttatgtttct ttgagattaa tagatattgg gggaaaaacg
      781 cctttttagg aaaattatag tgaaaatttg acagttgatt ggcataattt cttgtttgaa
      841 tgctgcctcc attatatagg tccttccagg aactcaaaca ctgtaagtga aatatgggag
      901 tatagttttt attatttctt cttttccttt tgttttcata atataatgca gtttgttcag
      961 gaaatcagca caaagcctga tagtacttta ctaaaatgac tgcattcttt ggattccttc
     1021 agtctatggt tcaagtcact aaagattcat ttttgttgag tccttatgag aaacagcagt
     1081 atgaatcttg acggtttctg cccgtcctaa tggcagagct ctctgacttg ggtgtatgct
     1141 gccaggctgg gtactttcat actttgtttt cttgttttgc tttaaaacta cgactcagca
     1201 tacattttcc cacatacatt tttacattgt accttaggac tcagtcatct ccacttaaat
     1261 tgatgacaca agcagctaat aaccatttct gggtttctgc ctaaccccct aattgtctgt
     1321 taaagccaat tctctgggtg tcccagtgag tggtggcttt ttttctttcc acattggcac
     1381 attcacttct cccactcttg gcatgtaaga aataagcatt tacataattg gaaaaatctg
     1441 gatttctgat gccaaagggt taaagcttct tggatttcat ttcattgata tacagccact
     1501 attttatttt tgatcagtgg cctttgggcc actgttcagg gtactgacca tcagtgtcag
     1561 cattagggtt ttggtttttg tttcttttgg gtatttcttt tttggcacat gtgaatcttg
     1621 ttttgtgtaa aatgaaatta ctttctcttg ttctctgatg atgggtttaa aattaaaaga
     1681 gcatccggtt ttggtatggg gatgatccag gattatgttg tgactgatac atattagtta
     1741 cttgtgcttt tttttttttt ttttggatct ttgcaagggc aaaactacaa gtaacgagtt
     1801 ttatataatt aatttaaatt tgttacaggt tttcatgttc aggataaacc atacttccac
     1861 cttgggtgag aacacttgca acagtttatt aatgaggtga ctttcacctt aggacaactg
     1921 ttgcatgcca agttttttgt gtgtgtgaaa cacttcaaaa ctgatttaaa agatgtaaat
     1981 ttaaaattgg ttgtatctaa tatgccccag gttcggtaaa taaacaattc tttttaaaaa
     2041 aaaaaaaaaa aaaaaaaaaa
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_006289. Homo sapiens tali...[gi:16753232] Links  


LOCUS       TLN1                    8187 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens talin 1 (TLN1), mRNA.
ACCESSION   NM_006289
VERSION     NM_006289.2  GI:16753232
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8187)
  AUTHORS   Luna,E.J. and Hitt,A.L.
  TITLE     Cytoskeleton--plasma membrane interactions
  JOURNAL   Science 258 (5084), 955-964 (1992)
  MEDLINE   93068289
   PUBMED   1439807
REFERENCE   2  (bases 1 to 8187)
  AUTHORS   Gilmore,A.P., Ohanian,V., Spurr,N.K. and Critchley,D.R.
  TITLE     Localisation of the human gene encoding the cytoskeletal protein
            talin to chromosome 9p
  JOURNAL   Hum. Genet. 96 (2), 221-224 (1995)
  MEDLINE   95362253
   PUBMED   7635475
REFERENCE   3  (bases 1 to 8187)
  AUTHORS   Genini,M., Schwalbe,P., Scholl,F.A. and Schafer,B.W.
  TITLE     Isolation of genes differentially expressed in human primary
            myoblasts and embryonal rhabdomyosarcoma
  JOURNAL   Int. J. Cancer 66 (4), 571-577 (1996)
  MEDLINE   96213800
   PUBMED   8635876
REFERENCE   4  (bases 1 to 8187)
  AUTHORS   Bass,M.D., Smith,B.J., Prigent,S.A. and Critchley,D.R.
  TITLE     Talin contains three similar vinculin-binding sites predicted to
            form an amphipathic helix
  JOURNAL   Biochem. J. 341 (Pt 2), 257-263 (1999)
  MEDLINE   99321468
   PUBMED   10393080
REFERENCE   5  (bases 1 to 8187)
  AUTHORS   Ben-Yosef,T. and Francomano,C.A.
  TITLE     Characterization of the human talin (TLN) gene: genomic structure,
            chromosomal localization, and expression pattern
  JOURNAL   Genomics 62 (2), 316-319 (1999)
  MEDLINE   20079169
   PUBMED   10610730
REFERENCE   6  (bases 1 to 8187)
  AUTHORS   Yan,B., Calderwood,D.A., Yaspan,B. and Ginsberg,M.H.
  TITLE     Calpain cleavage promotes talin binding to the beta 3 integrin
            cytoplasmic domain
  JOURNAL   J. Biol. Chem. 276 (30), 28164-28170 (2001)
  MEDLINE   21359445
   PUBMED   11382782
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF177198.1 and AF113217.1.
            On Nov 6, 2001 this sequence version replaced gi:5454129.
            Summary: This gene encodes a cytoskeletal protein which is
            concentrated in areas of cell-substratum and cell-cell contacts.
            This protein plays a significant role in the assembly of actin
            filaments and in spreading and migration of various cell types,
            including fibroblasts and osteoclasts. It codistributes with
            integrins in the cell surface membrane in order to assist in the
            attachment of adherent cells to extracellular matrices and of
            lymphocytes to other cells. The N-terminus of this protein contains
            elements for localization to cell-extracellular matrix junctions.
            The C-terminus contains binding sites for proteins such as
            beta-1-integrin, actin, and vinculin.
FEATURES             Location/Qualifiers
     source          1..8187
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13"
     gene            1..8187
                     /gene="TLN1"
                     /note="TLN; KIAA1027"
                     /db_xref="LocusID:7094"
                     /db_xref="MIM:186745"
     CDS             91..7716
                     /gene="TLN1"
                     /codon_start=1
                     /product="talin 1"
                     /protein_id="NP_006280.2"
                     /db_xref="GI:16753233"
                     /db_xref="LocusID:7094"
                     /db_xref="MIM:186745"
                     /translation="MVALSLKISIGNVVKTMQFEPSTMVYDACRIIRERIPEAPAGPP
                     SDFGLFLSDDDPKKGIWLEAGKALDYYMLRNGDTMEYRKKQRPLKIRMLDGTVKTIMV
                     DDSKTVTDMLMTICARIGITNHDEYSLVRELMEEKKEEITGTLRKDKTLLRDEKKMEK
                     LKQKLHTDDELNWLDHGRTLREQGVEEHETLLLRRKFFYSDQNVDSRDPVQLNLLYVQ
                     ARDDILNGSHPVSFDKACEFAGFQCQIQFGPHNEQKHKAGFLDLKDFLPKEYVKQKGE
                     RKIFQAHKNCGQMSEIEAKVRYVKLARSLKTYGVSFFLVKEKMKGKNKLVPRLLGITK
                     ECVMRVDEKTKEVIQEWNLTNIKRWAASPKSFTLDFGDYQDGYYSVQTTEGEQIAQLI
                     AGYIDIILKKKKSKDHFGLEGDEESTMLEDSVSPKKSTVLQQQYNRVGKVEHGSVALP
                     AIMRSGASGPENFQVGSMPPAQQQITSGQMHRGHMPPLTSAQQALTGTINSSMQAVQA
                     AQATLDDFDTLPPLGQDAASKAWRKNKMDESKHEIHSQVDAITAGTASVVNLTAGDPA
                     ETDYTAVGCAVTTISSNLTEMSRGVKLLAALLEDEGGSGRPLLQAAKGLAGAVSELLR
                     SAQPASAEPRQNLLQAAGNVGQASGELLQQIGESDTDPHFQDALMQLAKAVASAAAAL
                     VLKAKSVAQRTEDSGLQTQVIAAATQCALSTSQLVACTKVVAPTISSPVCQEQLVEAG
                     RLVAKAVEGCVSASQAATEDGQLLRGVGAAATAVTQALNELLQHVKAHATGAGPAGRY
                     DQATDTILTVTENIFSSMGDAGEMVGQARILAQATSDLVNAIKADAEGESDLENSRKL
                     LSAAKILADATAKMVEAAKGAAAHPDSEEQQQRLREAAEGLRMATNAAAQNAIKKKLV
                     QRLEHAAKQAAASATQTIAAAQHAASTPKASAGPQPLLVQSCKAVAEQIPLLVQGVRG
                     SQAQPDSPSAQLALIAASQSFLQPGGKMVAAAKASVPTIQDQASAMQLSQCAKNLGTA
                     LAELRTAAQKAQEACGPLEMDSALSVVQNLEKDLQEVKAAARDGKLKPLPGETMEKCT
                     QDLGNSTKAVSSAIAQLLGEVAQGNENYAGIAARDVAGGLRSLAQAARGVAALTSDPA
                     VQAIVLDTASDVLDKASSLIEEAKKAAGHPGDPESQQRLAQVAKAVTQALNRCVSCLP
                     GQRDVDNALRAVGDASKRLLSDSLPPSTGTFQEAQSRLNEAAAGLNQAATELVQASRG
                     TPQDLARASGRFGQDFSTFLEAGVEMAGQAPSQEDRAQVVSNLKGISMSSSKLLLAAK
                     ALSTDPAAPNLKSQLAAAARAVTDSINQLITMCTQQAPGQKECDNALRELETVRELLE
                     NPVQPINDMSYFGCLDSVMENSKVLGEAMTGISQNAKNGNLPEFGDAISTASKALCGF
                     TEAAAQAAYLVGVSDPNSQAGQQGLVEPTQFARANQAIQMACQSLGEPGCTQAQVLSA
                     ATIVAKHTSALCNSCRLASARTTNPTAKRQFVQSAKEVANSTANLVKTIKALDGAFTE
                     ENRAQCRAATAPLLEAVDNLSAFASNPEFSSIPAQISPEGRAAMEPIVISAKTMLESA
                     GGLIQTARALAVNPRDPPSWSVLAGHSRTVSDSIKKLITSMRDKAPGQLECETAIAAL
                     NSCLRDLDQASLAAVSQQLAPREGISQEALHTQMLTAVQEISHLIEPLANAARAEASQ
                     LGHKVSQMAQYFEPLTLAAVGAASKTLSHPQQMALLDQTKTLAESALQLLYTAKEAGG
                     NPKQAAHTQEALEEAVQMMTEAVEDLTTTLNEAASAAGVVGGMVDSITQAINQLDEGP
                     MGEPEGSFVDYQTTMVRTAKAIAVTVQEMVTKSNTSPEELGPLANQLTSDYGRLASEA
                     KPAAVAAENEEIGSHIKHRVQELGHGCAALVTKAGALQCSPSDAYTKKELIECARRVS
                     EKVSHVLAALQAGNRGTQACITAASAVSGIIADLDTTIMFATAGTLNREGTETFADHR
                     EGILKTAKVLVEDTKVLVQNAAGSQEKLAQAAQSSVATITRLADVVKLGAASLGAEDP
                     ETQVVLINAVKDVAKALGDLISATKAAAGKVGDDPAVWQLKNSAKVMVTNVTSLLKTV
                     KAVEDEATKGTRALEATTEHIRQELAVFCSPEPPAKTSTPEDFIRMTKGITMATAKAV
                     AAGNSCRQEDVIATANLSRRAIADMLRACKEAAYHPEVAPDVRLRALHYGRECANGYL
                     ELLDHVLLTLQKPSPELKQQLTGHSKRVAGSVTELIQAAEAMKGTEWVDPEDPTVIAE
                     NELLGAAAAIEAAAKKLEQLKPRAKPKEADESLNFEEQILEAAKSIAAATSALVKAAS
                     AAQRELVAQGKVGAIPANALDDGQWSQGLISAARMVAAATNNLCEAANAAVQGHASQE
                     KLISSAKQVAASTAQLLVACKVKADQDSEAMKRLQAAGNAVKRASDNLVKAAQKAAAF
                     EEQENETVVVKEKMVGGIAQIIAAQEEMLRKERELEEARKKLAQIRQQQYKFLPSELR
                     DEH"
     misc_feature    334..1029
                     /gene="TLN1"
                     /note="Region: smart00295, B41, Band 4.1 homologues; Also
                     known as ezrin/radixin/moesin (ERM) protein domains.
                     Present in myosins, ezrin, radixin, moesin, protein
                     tyrosine phosphatases. Plasma membrane-binding domain.
                     These proteins play structural and regulatory roles in the
                     assembly and stabilization of specialized plasmamembrane
                     domains. Some PDZ domain containing proteins bind one or
                     more of this family. Now includes JAKs"
     misc_feature    451..1029
                     /gene="TLN1"
                     /note="Region: pfam00373, Band_41, FERM domain (Band 4.1
                     family). This domain has been renamed the FERM domain,
                     which stands for F for 4.1, E for Ezrin, R for radixin and
                     M for moesin"
     misc_feature    1909..2367
                     /gene="TLN1"
                     /note="Region: smart00307, ILWEQ, I/LWEQ domain; Thought
                     to possess an F-actin binding function"
     misc_feature    7096..7686
                     /gene="TLN1"
                     /note="Region: smart00307, ILWEQ, I/LWEQ domain; Thought
                     to possess an F-actin binding function"
     misc_feature    7111..7689
                     /gene="TLN1"
                     /note="Region: pfam01608, I_LWEQ, I/LWEQ domain. I/LWEQ
                     domains bind to actin. It has been shown that the I/LWEQ
                     domains from mouse talin and yeast Sla2p interact with
                     F-actin. I/LWEQ domains can be placed into four major
                     groups based on sequence similarity: (1) Metazoan talin;
                     (2) Dictyostelium TalA/TalB and SLA110; (3) metazoan
                     Hip1p; and (4) yeast Sla2p. The domain has four conserved
                     blocks, the name of the domain is derived from the initial
                     conserved amino acid of each of the four blocks"
     variation       complement(8068)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2295793"
     polyA_signal    8148..8153
                     /gene="TLN1"
     polyA_site      8168
                     /gene="TLN1"
                     /evidence=experimental
BASE COUNT     1994 a   2326 c   2379 g   1488 t
ORIGIN      
        1 cccgagaagc ggcggggcgg cgggccggcg ggcggggcgc agagccaggc agcgcaggta
       61 tagccaggct ggagaaaaga agctgccacc atggttgcac tttcactgaa gatcagcatt
      121 gggaatgtgg tgaagacgat gcagtttgag ccgtctacca tggtgtacga cgcctgccgc
      181 atcattcgtg agcggatccc agaggcccca gctggtcctc ccagcgactt tgggctcttt
      241 ctgtcagatg atgaccccaa aaagggtata tggctggagg ctgggaaagc tttggactac
      301 tacatgctcc gaaatgggga cactatggag tacaggaaga aacagagacc cctgaagatc
      361 cgtatgctgg atggaactgt gaagacgatc atggtggatg actctaagac tgtcactgac
      421 atgctcatga ccatctgtgc ccgcattggc atcaccaatc atgatgaata ttcattggtt
      481 cgagagctga tggaagagaa aaaggaggaa ataacaggga ccttaagaaa ggacaagaca
      541 ttgctgcgag atgaaaagaa gatggagaaa ctaaagcaga aattgcacac agatgatgag
      601 ttgaactggc tggaccatgg tcggacactg agggagcagg gtgtagagga gcacgagacg
      661 ctgctgctgc ggaggaagtt cttttactca gaccagaatg tggattcccg ggaccctgta
      721 cagctgaacc tcctgtatgt gcaggcacga gatgacatcc tgaatggctc ccaccctgtc
      781 tcctttgaca aggcctgtga gtttgctggc ttccaatgcc agatccagtt tgggccccac
      841 aatgagcaga agcacaaggc tggcttcctt gacctgaagg acttcctgcc caaggagtat
      901 gtgaagcaga agggagagcg taagatcttc caggcacaca agaattgtgg gcagatgagt
      961 gagattgagg ccaaggtccg ctacgtgaag ctagcccgtt ctctcaagac ttacggtgtc
     1021 tccttcttcc tggtgaagga aaaaatgaaa gggaagaaca agctagtgcc caggcttctg
     1081 ggcatcacca aggagtgtgt gatgcgagtg gatgagaaga ccaaggaagt gatccaggag
     1141 tggaacctca ccaacatcaa acgctgggct gcgtctccca aaagcttcac cctggatttt
     1201 ggagattacc aagatggcta ttactcagta cagacaactg aaggggagca gattgcacag
     1261 ctcattgccg gctacatcga tatcatcctg aagaagaaaa aaagcaagga tcactttggg
     1321 ctggaaggag atgaggagtc tactatgctg gaggactcag tgtcccccaa aaagtcaaca
     1381 gtcctgcagc agcaatacaa ccgggtgggg aaagtggagc atggctctgt ggccctgcct
     1441 gccatcatgc gctctggagc ctctggtcct gagaatttcc aggtgggcag catgccccct
     1501 gcccagcagc agattaccag cggccagatg caccgaggac acatgcctcc tctgacttca
     1561 gcccagcagg cactcactgg aaccattaac tccagcatgc aggccgtgca ggctgcccag
     1621 gccaccctgg atgactttga cactctgccg cctcttggcc aggatgctgc ctctaaggcc
     1681 tggcgtaaaa acaagatgga tgaatcaaag catgagatcc actctcaggt agatgccatc
     1741 acagctggta ctgcgtctgt ggtgaacctg acagcagggg accctgctga gacagactat
     1801 accgcagtgg gctgtgcagt caccacaatc tcctccaacc tgacggagat gtcccgtggg
     1861 gtgaagctgc tggctgcctt gctggaggac gaaggcggca gtggtcggcc cctgttgcag
     1921 gcagcaaagg gccttgcggg agcagtgtca gaactgctgc gcagtgccca accagccagt
     1981 gctgagcccc gtcagaacct gctgcaagca gctgggaacg tgggccaggc cagtggggag
     2041 ctgttgcaac aaattgggga aagtgatact gacccccact tccaggatgc gctaatgcag
     2101 ctcgccaaag ctgtggcaag tgctgcagct gccctggtcc tcaaggccaa gagtgtggcc
     2161 cagcggacag aggactcggg acttcagacc caagttattg ctgcagcaac acagtgtgcc
     2221 ctatccactt cccaactagt ggcctgtact aaggtggtgg cacctacaat cagctcacct
     2281 gtctgccaag agcaactggt ggaggctgga cgactggtag ccaaagccgt ggagggctgt
     2341 gtgtctgcct cccaggcagc tacagaggat gggcaactgt tgcgaggggt aggagcagca
     2401 gccacagctg tcacccaggc cctaaatgag ctgctgcagc atgtgaaagc ccatgccaca
     2461 ggggctgggc ctgctggccg ttatgaccag gctactgaca ccatcctaac cgtcactgag
     2521 aacatcttta gctccatggg tgatgctggg gagatggtgg gacaggcccg catcctggcc
     2581 caagccacat ctgacctggt caatgccatc aaggctgatg ctgaggggga aagtgatctg
     2641 gagaactccc gcaagctctt aagtgctgcc aagatcctag ctgatgccac agccaagatg
     2701 gtagaggctg ccaagggagc agctgcccac cctgacagtg aggagcagca gcagcggctg
     2761 cgggaggcag ctgaggggct gcgcatggcc accaatgcag ctgcgcagaa tgccatcaag
     2821 aaaaagctgg tgcagcgcct ggagcatgca gccaagcagg ctgcagcctc agccacacag
     2881 accatcgctg cagctcagca cgcagcctct acccccaaag cctctgccgg cccccagccc
     2941 ctgctggtgc agagctgcaa ggcagtggca gagcagattc cactgctggt gcagggcgtc
     3001 cgaggaagcc aagcccagcc tgacagcccc agcgctcagc ttgccctcat tgctgccagc
     3061 cagagcttcc tgcagccagg tgggaagatg gtggcagctg caaaggcctc agtgccaacg
     3121 attcaggacc aggcttcagc catgcagctg agtcagtgtg ccaagaacct gggcaccgcg
     3181 ctggctgaac tccggacggc tgcccagaag gctcaggaag catgtggacc tttggagatg
     3241 gattctgcac tgagtgtggt acagaatcta gagaaagatc tacaggaagt gaaggcagca
     3301 gctcgagatg gcaagcttaa acccttacct ggggagacaa tggagaagtg tacccaggac
     3361 ctgggcaaca gcaccaaagc cgtgagctca gccatcgccc agctactggg agaggttgcc
     3421 cagggcaatg agaattatgc aggtattgca gctcgggatg tggcaggtgg gctgcggtca
     3481 ctggcccagg ccgctagggg agtcgctgca ctgacgtcag atcctgcagt gcaggccatt
     3541 gtacttgata cggccagtga tgtgctggac aaggccagca gcctcattga ggaggcgaaa
     3601 aaggcagctg gccatccagg ggaccctgag agccagcagc ggcttgccca ggtggctaaa
     3661 gcagtgaccc aggctctgaa ccgctgtgtc agctgcctac ctggccagcg cgatgtggat
     3721 aatgccctga gggcagttgg agatgccagc aagcgactcc tgagtgactc gcttcctcct
     3781 agcactggga catttcaaga agctcagagc cggttgaatg aagctgctgc tgggctgaat
     3841 caggcagcca cagaactggt gcaggcctct cggggaaccc ctcaggacct ggctcgagcc
     3901 tcaggccgat ttggacagga cttcagcacc ttcctggaag ctggtgtgga gatggcaggc
     3961 caggctccga gccaggagga ccgagcccaa gttgtgtcca acttgaaggg catctccatg
     4021 tcttcaagca aacttcttct ggctgccaag gccctgtcca cggaccctgc tgcccctaac
     4081 ctcaagagtc agctggctgc agctgccagg gcagtaactg acagcatcaa tcagctcatc
     4141 actatgtgca cccagcaggc acccggccag aaggagtgtg ataacgccct gcgggaattg
     4201 gagacggtcc gggaactcct ggagaaccca gtccagccca tcaatgacat gtcctacttt
     4261 ggttgcctgg acagtgtaat ggagaactca aaggtgctgg gcgaggccat gactggcatc
     4321 tcccaaaatg ccaagaacgg aaacctgcca gagtttggag atgccatttc cacagcctca
     4381 aaggcacttt gtggcttcac cgaggcagct gcacaggctg catatctggt tggtgtctct
     4441 gaccccaata gccaagctgg acagcaaggg ctagtggagc ccacacagtt tgcccgtgca
     4501 aaccaggcaa ttcagatggc ctgccagagt ttgggagagc ctggctgtac ccaggcccag
     4561 gtgctctctg cagccaccat tgtggctaaa cacacctctg cactgtgtaa cagctgtcgc
     4621 ctggcttctg cccgtaccac caatcctact gccaagcgcc agtttgtaca gtcagccaag
     4681 gaggtggcca acagcacagc taatcttgtc aagaccatca aggcgctaga tggggccttc
     4741 acagaggaga accgtgccca gtgccgagca gcaacagccc ctctgctgga ggctgtggac
     4801 aatctgagtg cctttgcgtc caaccctgag ttctccagca ttcctgccca gatcagccct
     4861 gagggtcggg ctgccatgga gcccattgtg atctctgcca agacaatgtt agagagtgcc
     4921 gggggactca tccagacagc ccgggccctc gcagtcaatc cccgggaccc cccgagctgg
     4981 tcggtgctgg ccggccactc ccgtactgtc tcagactcca tcaagaagct aattacaagc
     5041 atgagggaca aggctccagg gcagctggag tgtgaaacgg ccattgcagc tctgaacagt
     5101 tgtctacggg acctagacca ggcttccctc gctgcagtca gccagcagct tgctccccgt
     5161 gagggaatct ctcaagaggc cttgcacact cagatgctca ctgcagtcca agagatctcc
     5221 catctcattg agccgctggc caatgctgcc cgggctgaag cctcccagct gggacacaag
     5281 gtgtcccaga tggcgcagta ctttgagccg ctcaccctgg ctgcagtggg tgctgcctcc
     5341 aagaccctga gccacccgca gcagatggca ctcctggacc agactaaaac attggcagag
     5401 tctgccctgc agttgctata cactgccaag gaggctggtg gtaacccaaa gcaagcagct
     5461 cacacccagg aagccctgga ggaggctgtg cagatgatga ccgaggccgt agaggacctg
     5521 acaacaaccc tcaacgaggc agccagtgct gctggggtcg tgggtggcat ggtggactcc
     5581 atcacccagg ccatcaacca gctagatgaa ggaccaatgg gtgaaccaga aggttccttc
     5641 gtggattacc aaacaactat ggtgcggaca gccaaggcca ttgcagtgac cgttcaggag
     5701 atggttacca agtcaaacac cagcccagag gagctgggcc ctcttgctaa ccagctgacc
     5761 agtgactatg gccgtctggc ctcggaggcc aagcctgcag cggtggctgc tgaaaatgaa
     5821 gagataggtt cccatatcaa acaccgggta caggagctgg gccatggctg tgccgctctg
     5881 gtcaccaagg caggcgccct gcagtgcagc cccagtgatg cctacaccaa gaaggagctc
     5941 atagagtgtg cccggagagt ctctgagaag gtctcccacg tcctggctgc gctccaggct
     6001 gggaatcgtg gcacccaggc ctgcatcaca gcagccagcg ctgtgtctgg tatcattgct
     6061 gacctcgaca ccaccatcat gttcgccact gctggcacgc tcaatcgtga gggtactgaa
     6121 actttcgctg accaccggga gggcatcctg aagactgcga aggtgctggt ggaggacacc
     6181 aaggtcctgg tgcaaaacgc agctgggagc caggagaagt tggcgcaggc tgcccagtcc
     6241 tccgtggcga ccatcacccg cctcgctgat gtggtcaagc tgggtgcagc cagcctggga
     6301 gctgaggacc ctgagaccca ggtggtacta atcaacgcag tgaaagatgt agccaaagcc
     6361 ctgggagacc tcatcagtgc aacgaaggct gcagctggca aagttggaga tgaccctgct
     6421 gtgtggcagc taaagaactc tgccaaggtg atggtgacca atgtgacatc attgcttaag
     6481 acagtaaaag ccgtggaaga tgaggccacc aaaggcactc gggccctgga ggcaaccaca
     6541 gaacacatac ggcaggagct ggcggttttc tgttccccag agccacctgc caagacctct
     6601 accccagaag acttcatccg aatgaccaag ggtatcacca tggcaaccgc caaggccgtt
     6661 gctgctggca attcctgtcg ccaggaagat gtcattgcca cagccaatct gagccgccgt
     6721 gctattgcag atatgcttcg ggcttgcaag gaagcagctt accacccaga agtggcccct
     6781 gatgtgcggc ttcgagccct gcactatggc cgggagtgtg ccaatggcta cctggaactg
     6841 ctggaccatg tactgctgac cctgcagaag ccaagcccag aactgaagca gcagttgaca
     6901 ggacattcaa agcgtgtggc tggttccgtc actgagctca tccaggctgc tgaagccatg
     6961 aagggaacag aatgggtaga cccagaggac cccacagtca ttgctgagaa tgagctcctg
     7021 ggagctgcag ccgccattga ggctgcagcc aaaaagctag agcagctgaa gccccgggcc
     7081 aaacccaagg aggcagatga gtccttgaac tttgaggagc agatactaga agctgccaag
     7141 tccattgcag cagccaccag tgcactggta aaggctgcgt cggctgccca gagagaacta
     7201 gtggcccaag ggaaggtggg tgccattcca gccaatgcac tggacgatgg gcagtggtcc
     7261 cagggcctca tttctgctgc ccggatggtg gctgcggcca ccaacaatct gtgtgaggca
     7321 gccaatgcag ctgtacaagg ccatgccagc caggagaagc tcatctcatc agccaagcag
     7381 gtagctgcct ccacagccca gctccttgtg gcctgcaagg tcaaggctga ccaggactcg
     7441 gaggcaatga aacgacttca ggctgctggc aacgcagtga agcgagcctc agataatctg
     7501 gtgaaagcag cacagaaggc tgcagccttt gaagagcagg agaatgagac agtggtggtg
     7561 aaagagaaga tggttggcgg cattgcccag atcatcgcag cacaggaaga aatgcttcgg
     7621 aaggaacgag agctggaaga ggcgcggaag aaactggccc agatccggca gcagcagtac
     7681 aagtttctgc cttcagagct tcgagatgag cactaaagaa gcctcttcta tttaatgcag
     7741 acccggccca gagactgtgc gtgccactac caaagccttc tgggctgtcg gggcccaacc
     7801 tgcccaaccc cagcactccc caaagtgcct gccaaacccc agggcctggc cccgcccagt
     7861 cccgcagtac atcccctgtc ccctccccaa ccccaagtgc cttcatgccc tagggccccc
     7921 caagtgcctg cccctcccca gagtattaac gctccaagag tattattaac gctgctgtac
     7981 ctcgatctga atctgccggg gccccagccc actccaccct gccagcagct tccagccagt
     8041 ccccacagcc tcatcagctc tcttcaccgt tttttgatac tatcttcccc cacccccagc
     8101 tacccatagg ggctgcagag ttataagccc caaacaggtc atgctccaat aaaaatgatt
     8161 ctacctacaa aaaaaaaaaa aaaaaaa
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_019609. Homo sapiens meta...[gi:9994200] Links  


LOCUS       CPX-1                   2205 bp    mRNA    linear   PRI 02-NOV-2000
DEFINITION  Homo sapiens metallocarboxypeptidase CPX-1 (CPX-1), mRNA.
ACCESSION   NM_019609
VERSION     NM_019609.1  GI:9994200
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2205)
  AUTHORS   Smith,M.
  TITLE     Human DNA sequence from clone RP5-860F19 on chromosome 20p12.3-13.
            Contains the gene for a novel protein similar to olfactory neuronal
            transcription factors (COE1, COE2, COE3, EBF3, OLF1), an RPL19 (60S
            ribosomal protein L19) pseudogene, the gene for a novel protein
            (ortholog of mouse metallocarboxypeptidase CPX-1) and a novel gene.
            Contains ESTs, STSs, GSSs and four putative CpG islands
  JOURNAL   Unpublished
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AL035460.15.
FEATURES             Location/Qualifiers
     source          1..2205
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p12.3-p13"
                     /clone="RP5-860F19"
                     /clone_lib="RPCI-5"
     gene            1..2205
                     /gene="CPX-1"
                     /db_xref="LocusID:56265"
     CDS             1..2205
                     /gene="CPX-1"
                     /note="match: proteins: Tr:Q9Z100 Tr:Q14113 Tr:O54860
                     Tr:O97567 Tr:Q61281"
                     /codon_start=1
                     /product="metallocarboxypeptidase CPX-1"
                     /protein_id="NP_062555.1"
                     /db_xref="GI:9994201"
                     /db_xref="LocusID:56265"
                     /translation="MWGLLLALAAFAPAVGPALGAPRNSVLGLAQPGTTKVPGSTPAL
                     HSSPAQPPAETANGTSEQHVRIRVIKKKKVIMKKRKKLTLTRPTPLVTAGPLVTPTPA
                     GTLDPAEKQETGCPPLGLESLRVSDSRLEASSSQSFGLGPHRGRLNIQSGLEDGDLYD
                     GAWCAEEQDADPWFQVDAGHPTRFSGVITQGRNSVWRYDWVTSYKVQFSNDSRTWWGS
                     RNHSSGMDAVFPANSDPETPVLNLLPEPQVARFIRLLPQTWLQGGAPCLRAEILACPV
                     SDPNDLFLEAPASGSSDPLDFQHHNYKAMRKLMKQVQEQCPNITRIYSIGKSYQGLKL
                     YVMEMSDKPGEHELGEPEVRYVAGMHGNEALGRELLLLLMQFLCHEFLRGNPRVTRLL
                     SEMRIHLLPSMNPDGYEIAYHRGSELVGWAEGRWNNQSIDLNHNFADLNTPLWEAQDD
                     GKVPHIVPNHHLPLPTYYTLPNATVAPETRAVIKWMKRIPFVLSANLHGGELVVSYPF
                     DMTRTPWAARELTPTPDDAVFRWLSTVYAGSNLAMQDTSRRPCHSQDFSVHGNIINGA
                     DWHTVPGSMNDFSYLHTNCFEVTVELSCDKFPHENELPQEWENNKDALLTYLEQVRMG
                     IAGVVRDKDTELGIADAVIAVDGINHDVTTAWGGDYWRLLTPGDYMVTASAEGYHSVT
                     RNCRVTFEEGPFPCNFVLTKTPKQRLRELLAAGAKVPPDLRRRLERLRGQKD"
     misc_feature    349..813
                     /gene="CPX-1"
                     /note="F5_F8_type_C; Region: F5/8 type C domain"
                     /db_xref="CDD:pfam00754"
     misc_feature    895..1542
                     /gene="CPX-1"
                     /note="Zn_carbOpept; Region: Zinc carboxypeptidase"
                     /db_xref="CDD:pfam00246"
     misc_feature    1378..2034
                     /gene="CPX-1"
                     /note="Zn_carbOpept; Region: Zinc carboxypeptidase"
                     /db_xref="CDD:pfam00246"
     misc_feature    complement(1..172)
                     /partial
                     /note="CpG island"
                     /evidence=not_experimental
     misc_feature    complement(1819..2205)
                     /partial
                     /note="match: STS: Em:AA598945"
BASE COUNT      465 a    677 c    655 g    408 t
ORIGIN      
        1 atgtgggggc tcctgctcgc cctggccgcc ttcgcgccgg ccgtcggccc ggctctgggg
       61 gcgcccagga actcggtgct gggcctcgcg cagcccggga ccaccaaggt cccaggctcg
      121 accccggccc tgcatagcag cccggcacag ccgccggcgg agacagctaa cgggacctca
      181 gaacagcatg tccggattcg agtcatcaag aagaaaaagg tcattatgaa gaagcggaag
      241 aagctaactc taactcgccc caccccactg gtgactgccg ggccccttgt gacccccact
      301 ccagcaggga ccctcgaccc cgctgagaaa caagaaacag gctgtcctcc tttgggtctg
      361 gagtccctgc gagtttcaga tagccggctt gaggcatcca gcagccagtc ctttggtctt
      421 ggaccacacc gaggacggct caacattcag tcaggcctgg aggacggcga tctatatgat
      481 ggagcctggt gtgctgagga gcaggacgcc gatccatggt ttcaggtgga cgctgggcac
      541 cccacccgct tctcgggtgt tatcacacag ggcaggaact ctgtctggag gtatgactgg
      601 gtcacatcat acaaggtcca gttcagcaat gacagtcgga cctggtgggg aagtaggaac
      661 cacagcagtg ggatggacgc agtatttcct gccaattcag acccagaaac tccagtgctg
      721 aacctcctgc cggagcccca ggtggcccgc ttcattcgcc tgctgcccca gacctggctc
      781 cagggaggcg cgccttgcct ccgggcagag atcctggcct gcccagtctc agaccccaat
      841 gacctattcc ttgaggcccc tgcgtcggga tcctctgacc ctctagactt tcagcatcac
      901 aattacaagg ccatgaggaa gctgatgaag caggtacaag agcaatgccc caacatcacc
      961 cgcatctaca gcattgggaa gagctaccag ggcctgaagc tgtatgtgat ggaaatgtcg
     1021 gacaagcctg gggagcatga gctgggggag cctgaggtgc gctacgtggc tggcatgcat
     1081 gggaacgagg ccctggggcg ggagttgctt ctgctcctga tgcagttcct gtgccatgag
     1141 ttcctgcgag ggaacccacg ggtgacccgg ctgctctctg agatgcgcat tcacctgctg
     1201 ccctccatga accctgatgg ctatgagatc gcctaccacc ggggttcaga gctggtgggc
     1261 tgggccgagg gccgctggaa caaccagagc atcgatctta accataattt tgctgacctc
     1321 aacacaccac tgtgggaagc acaggacgat gggaaggtgc cccacatcgt ccccaaccat
     1381 cacctgccat tgcccactta ctacaccctg cccaatgcca ccgtggctcc tgaaacgcgg
     1441 gcagtaatca agtggatgaa gcggatcccc tttgtgctaa gtgccaacct ccacgggggt
     1501 gagctcgtgg tgtcctaccc attcgacatg actcgcaccc cgtgggctgc ccgcgagctc
     1561 acgcccacac cagatgatgc tgtgtttcgc tggctcagca ctgtctatgc tggcagtaat
     1621 ctggccatgc aggacaccag ccgccgaccc tgccacagcc aggacttctc cgtgcacggc
     1681 aacatcatca acggggctga ctggcacacg gtccccggga gcatgaatga cttcagctac
     1741 ctacacacca actgctttga ggtcactgtg gagctgtcct gtgacaagtt ccctcacgag
     1801 aatgaattgc cccaggagtg ggagaacaac aaagacgccc tcctcaccta cctggagcag
     1861 gtgcgcatgg gcattgcagg agtggtgagg gacaaggaca cggagcttgg gattgctgac
     1921 gctgtcattg ccgtggatgg gattaaccat gacgtgacca cggcgtgggg cggggattat
     1981 tggcgtctgc tgaccccagg ggactacatg gtgactgcca gtgccgaggg ctaccattca
     2041 gtgacacgga actgtcgggt cacctttgaa gagggcccct tcccctgcaa tttcgtgctc
     2101 accaagactc ccaaacagag gctgcgcgag ctgctggcag ctggggccaa ggtgcccccg
     2161 gaccttcgca ggcgcctgga gcggctaagg ggacagaagg attga
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

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1: NM_000599. Homo sapiens insu...[gi:10834981] Links  


LOCUS       IGFBP5                  1722 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens insulin-like growth factor binding protein 5 (IGFBP5),
            mRNA.
ACCESSION   NM_000599
VERSION     NM_000599.1  GI:10834981
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1722)
  AUTHORS   Kiefer,M.C., Ioh,R.S., Bauer,D.M. and Zapf,J.
  TITLE     Molecular cloning of a new human insulin-like growth factor binding
            protein
  JOURNAL   Biochem. Biophys. Res. Commun. 176 (1), 219-225 (1991)
  MEDLINE   91207396
   PUBMED   1850258
REFERENCE   2  (bases 1 to 1722)
  AUTHORS   Shimasaki,S., Shimonaka,M., Zhang,H.P. and Ling,N.
  TITLE     Identification of five different insulin-like growth factor binding
            proteins (IGFBPs) from adult rat serum and molecular cloning of a
            novel IGFBP-5 in rat and human
  JOURNAL   J. Biol. Chem. 266 (16), 10646-10653 (1991)
  MEDLINE   91244847
   PUBMED   1709938
REFERENCE   3  (bases 1 to 1722)
  AUTHORS   Allander,S.V., Larsson,C., Ehrenborg,E., Suwanichkul,A., Weber,G.,
            Morris,S.L., Bajalica,S., Kiefer,M.C., Luthman,H. and Powell,D.R.
  TITLE     Characterization of the chromosomal gene and promoter for human
            insulin-like growth factor binding protein-5
  JOURNAL   J. Biol. Chem. 269 (14), 10891-10898 (1994)
  MEDLINE   94193798
   PUBMED   7511611
REFERENCE   4  (bases 1 to 1722)
  AUTHORS   Andersson,B., Wentland,M.A., Ricafrente,J.Y., Liu,W. and Gibbs,R.A.
  TITLE     A 'double adaptor' method for improved shotgun library construction
  JOURNAL   Anal. Biochem. 236 (1), 107-113 (1996)
  MEDLINE   96207227
   PUBMED   8619474
REFERENCE   5  (bases 1 to 1722)
  AUTHORS   Yu,W., Andersson,B., Worley,K.C., Muzny,D.M., Ding,Y., Liu,W.,
            Ricafrente,J.Y., Wentland,M.A., Lennon,G. and Gibbs,R.A.
  TITLE     Large-scale concatenation cDNA sequencing
  JOURNAL   Genome Res. 7 (4), 353-358 (1997)
  MEDLINE   97264341
   PUBMED   9110174
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF055033.1.
FEATURES             Location/Qualifiers
     source          1..1722
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33-q36"
                     /clone="IMAGE Consortium 24645"
                     /sex="female"
                     /tissue_type="brain"
                     /clone_lib="1NIB"
                     /dev_stage="infant"
     gene            1..1722
                     /gene="IGFBP5"
                     /note="IBP5"
                     /db_xref="LocusID:3488"
                     /db_xref="MIM:146734"
     variation       654
                     /gene="IGFBP5"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1053160"
     variation       660
                     /gene="IGFBP5"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3209396"
     CDS             752..1570
                     /gene="IGFBP5"
                     /note="similar to Homo sapiens insulin-like growth factor
                     binding protein 5 encoded by GenBank Accession Number
                     L27556"
                     /codon_start=1
                     /product="insulin-like growth factor binding protein 5"
                     /protein_id="NP_000590.1"
                     /db_xref="GI:10834982"
                     /db_xref="LocusID:3488"
                     /db_xref="MIM:146734"
                     /translation="MVLLTAVLLLLAAYAGPAQSLGSFVHCEPCDEKALSMCPPSPLG
                     CELVKEPGCGCCMTCALAEGQSCGVYTERCAQGLRCLPRQDEEKPLHALLHGRGVCLN
                     EKSYREQVKIERDSREHEEPTTSEMAEETYSPKIFRPKHTRISELKAEAVKKDRRKKL
                     TQSKFVGGAENTAHPRIISAPEMRQESEQGPCRRHMEASLQELKASPRMVPRAVYLPN
                     CDRKGFYKRKQCKPSRGRKRGICWCVDKYGMKLPGMEYVDGDFQCHTFDSSNVE"
     misc_feature    824..1057
                     /gene="IGFBP5"
                     /note="IB; Region: Insulin growth factor-binding protein
                     homologues"
                     /db_xref="CDD:IB"
     misc_feature    830..1006
                     /gene="IGFBP5"
                     /note="IGFBP; Region: Insulin-like growth factor binding
                     proteins"
                     /db_xref="CDD:pfam00219"
     misc_feature    1352..1540
                     /gene="IGFBP5"
                     /note="thyroglobulin_1; Region: Thyroglobulin type-1
                     repeat"
                     /db_xref="CDD:pfam00086"
     misc_feature    1397..1549
                     /gene="IGFBP5"
                     /note="TY; Region: Thyroglobulin type I repeats."
                     /db_xref="CDD:TY"
     variation       1543
                     /gene="IGFBP5"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3193665"
BASE COUNT      369 a    537 c    440 g    376 t
ORIGIN      
        1 ggggaaaaga gctaggaaag agctgcaaag cagtgtgggc tttttccctt tttttgctcc
       61 ttttcattac ccctcctccg ttttcaccct tctccggact tcgcgtagaa cctgcgaatt
      121 tcgaagagga ggtggcaaag tgggagaaaa gaggtgttag ggtttggggt ttttttgttt
      181 ttgtttttgt tttttaattt cttgatttca acattttctc ccaccctctc ggctgcagcc
      241 aacgcctctt acctgttctg cggcgccgcg caccgctggc agctgagggt tagaaagcgg
      301 ggtgtatttt agattttaag caaaaatttt aaagataaat ccatttttct ctcccacccc
      361 caacgccatc tccactgcat ccgatctcat tatttcggtg gttgcttggg ggtgaacaat
      421 tttgtggctt tttttcccct ataattctga cccgctcagg cttgagggtt tctccggcct
      481 ccgctcactg cgtgcacctg gcgctgccct gcttccccca acctgttgca aggctttaat
      541 tcttgcaact gggacctgct cgcaggcacc ccagccctcc acctctctct acatttttgc
      601 aagtgtctgg gggagggcac ctgctctacc tgccagaaat tttaaaacaa aaacaaaaac
      661 aaaaaaatct ccgggggccc tcttggcccc tttatccctg cactctcgct ctcctgcccc
      721 accccgaggt aaagggggcg actaagagaa gatggtgttg ctcaccgcgg tcctcctgct
      781 gctggccgcc tatgcggggc cggcccagag cctgggctcc ttcgtgcact gcgagccctg
      841 cgacgagaaa gccctctcca tgtgcccccc cagccccctg ggctgcgagc tggtcaagga
      901 gccgggctgc ggctgctgca tgacctgcgc cctggccgag gggcagtcgt gcggcgtcta
      961 caccgagcgc tgcgcccagg ggctgcgctg cctcccccgg caggacgagg agaagccgct
     1021 gcacgccctg ctgcacggcc gcggggtttg cctcaacgaa aagagctacc gcgagcaagt
     1081 caagatcgag agagactccc gtgagcacga ggagcccacc acctctgaga tggccgagga
     1141 gacctactcc cccaagatct tccggcccaa acacacccgc atctccgagc tgaaggctga
     1201 agcagtgaag aaggaccgca gaaagaagct gacccagtcc aagtttgtcg ggggagccga
     1261 gaacactgcc cacccccgga tcatctctgc acctgagatg agacaggagt ctgagcaggg
     1321 cccctgccgc agacacatgg aggcttccct gcaggagctc aaagccagcc cacgcatggt
     1381 gccccgtgct gtgtacctgc ccaattgtga ccgcaaagga ttctacaaga gaaagcagtg
     1441 caaaccttcc cgtggccgca agcgtggcat ctgctggtgc gtggacaagt acgggatgaa
     1501 gctgccaggc atggagtacg ttgacgggga ctttcagtgc cacaccttcg acagcagcaa
     1561 cgttgagtga tgcgtccccc cccaaccttt ccctcacccc ctcccacccc cagccccgac
     1621 tccagccagc gcctccctcc accccaggac gccactcatt tcatctcatt taagggaaaa
     1681 atatatatct atctatttga ggaaaaaaaa aaaaaaaaaa aa
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_004039. Homo sapiens anne...[gi:4757755] Links  


LOCUS       ANXA2                   1362 bp    mRNA    linear   PRI 01-NOV-2000
DEFINITION  Homo sapiens annexin A2 (ANXA2), mRNA.
ACCESSION   NM_004039
VERSION     NM_004039.1  GI:4757755
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1362)
  AUTHORS   Huang,K.S., Wallner,B.P., Mattaliano,R.J., Tizard,R., Burne,C.,
            Frey,A., Hession,C., McGray,P., Sinclair,L.K., Chow,E.P.,
            Browning,J.L., Ramachandran,K.L., Tang,J., Smart,J.E. and
            Pepinsky,R.B.
  TITLE     Two human 35 kd inhibitors of phospholipase A2 are related to
            substrates of pp60v-src and of the epidermal growth factor
            receptor/kinase
  JOURNAL   Cell 46 (2), 191-199 (1986)
  MEDLINE   86245065
   PUBMED   3013422
REFERENCE   2  (bases 1 to 1362)
  AUTHORS   Huebner,K., Cannizzaro,L.A., Frey,A.Z., Hecht,B.K., Hecht,F.,
            Croce,C.M. and Wallner,B.P.
  TITLE     Chromosomal localization of the human genes for lipocortin I and
            lipocortin II
  JOURNAL   Oncogene Res. 2 (4), 299-310 (1988)
  MEDLINE   88289023
   PUBMED   2969496
REFERENCE   3  (bases 1 to 1362)
  AUTHORS   Spano,F., Raugei,G., Palla,E., Colella,C. and Melli,M.
  TITLE     Characterization of the human lipocortin-2-encoding multigene
            family: its structure suggests the existence of a short amino acid
            unit undergoing duplication
  JOURNAL   Gene 95 (2), 243-251 (1990)
  MEDLINE   91065537
   PUBMED   2174397
REFERENCE   4  (bases 1 to 1362)
  AUTHORS   Richard,I., Broux,O., Chiannilkulchai,N., Fougerousse,F.,
            Allamand,V., Bourg,N., Brenguier,L., Devaud,C., Pasturaud,P.,
            Roudaut,C. et al.
  TITLE     Regional localization of human chromosome 15 loci
  JOURNAL   Genomics 23 (3), 619-627 (1994)
  MEDLINE   95154832
   PUBMED   7851890
REFERENCE   5  (bases 1 to 1362)
  AUTHORS   Takahashi,S., Reddy,S.V., Chirgwin,J.M., Devlin,R., Haipek,C.,
            Anderson,J. and Roodman,G.D.
  TITLE     Cloning and identification of annexin II as an autocrine/paracrine
            factor that increases osteoclast formation and bone resorption
  JOURNAL   J. Biol. Chem. 269 (46), 28696-28701 (1994)
  MEDLINE   95050673
   PUBMED   7961821
REFERENCE   6  (bases 1 to 1362)
  AUTHORS   Burger,A., Berendes,R., Liemann,S., Benz,J., Hofmann,A., Gottig,P.,
            Huber,R., Gerke,V., Thiel,C., Romisch,J. and Weber,K.
  TITLE     The crystal structure and ion channel activity of human annexin II,
            a peripheral membrane protein
  JOURNAL   J. Mol. Biol. 257 (4), 839-847 (1996)
  MEDLINE   96194449
   PUBMED   8636985
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D00017.1.
            Summary: This gene encodes a member of the annexin family.  Members
            of this calcium-dependent phospholipid-binding protein family play
            a role in the regulation of cellular growth and in signal
            transduction pathways.  This protein functions as an autocrine
            factor which heightens osteoclast formation and bone resorption.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1362
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21-q22"
     gene            1..1362
                     /gene="ANXA2"
                     /note="ANX2L4; LIP2; LPC2D; CAL1H"
                     /db_xref="LocusID:302"
                     /db_xref="MIM:151740"
     CDS             50..1069
                     /gene="ANXA2"
                     /note="annexin II; lipocortin II; Annexin II (lipocortin
                     I); calpactin I, heavy polypeptide (p36); annexin II
                     (lipocortin II; calpactin I, heavy polypeptide); annexin
                     II (lipocortin II)"
                     /codon_start=1
                     /product="annexin A2"
                     /protein_id="NP_004030.1"
                     /db_xref="GI:4757756"
                     /db_xref="LocusID:302"
                     /db_xref="MIM:151740"
                     /translation="MSTVHEILCKLSLEGDHSTPPSAYGSVKAYTNFDAERDALNIET
                     AIKTKGVDEVTIVNILTNRSNAQRQDIAFAYQRRTKKELASALKSALSGHLETVILGL
                     LKTPAQYDASELKASMKGLGTDEDSLIEIICSRTNQELQEINRVYKEMYKTDLEKDII
                     SDTSGDFRKLMVALAKGRRAEDGSVIDYELIDQDARDLYDAGVKRKGTDVPKWISIMT
                     ERSVPHLQKVFDRYKSYSPYDMLESIRKEVKGDLENAFLNLVQCIQNKPLYFADRLYD
                     SMKGKGTRDKVLIRIMVSRSEVDMLKIRSEFKRKYGKSLYYYIQQDTKGDYQKALLYL
                     CGGDD"
     misc_feature    161..355
                     /gene="ANXA2"
                     /note="annexin; Region: Annexin"
                     /db_xref="CDD:pfam00191"
     misc_feature    197..355
                     /gene="ANXA2"
                     /note="ANX; Region: Annexin repeats"
                     /db_xref="CDD:ANX"
     misc_feature    368..571
                     /gene="ANXA2"
                     /note="annexin; Region: Annexin"
                     /db_xref="CDD:pfam00191"
     misc_feature    413..571
                     /gene="ANXA2"
                     /note="ANX; Region: Annexin repeats"
                     /db_xref="CDD:ANX"
     misc_feature    623..826
                     /gene="ANXA2"
                     /note="annexin; Region: Annexin"
                     /db_xref="CDD:pfam00191"
     misc_feature    668..826
                     /gene="ANXA2"
                     /note="ANX; Region: Annexin repeats"
                     /db_xref="CDD:ANX"
     misc_feature    848..1051
                     /gene="ANXA2"
                     /note="annexin; Region: Annexin"
                     /db_xref="CDD:pfam00191"
     misc_feature    893..1051
                     /gene="ANXA2"
                     /note="ANX; Region: Annexin repeats"
                     /db_xref="CDD:ANX"
     variation       207
                     /gene="ANXA2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:855523"
     variation       207
                     /gene="ANXA2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3780503"
     variation       341
                     /gene="ANXA2"
                     /note="WARNING: map location ambiguous"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1059688"
     variation       851
                     /gene="ANXA2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3206419"
     variation       874
                     /gene="ANXA2"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1065565"
     variation       878
                     /gene="ANXA2"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3206577"
     variation       878
                     /gene="ANXA2"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1143398"
     variation       879
                     /gene="ANXA2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1143400"
     variation       1230
                     /gene="ANXA2"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3582"
     polyA_signal    1342..1347
                     /gene="ANXA2"
BASE COUNT      384 a    316 c    343 g    319 t
ORIGIN      
        1 catttgggga cgctctcagc tctcggcgca cggcccagct tccttcaaaa tgtctactgt
       61 tcacgaaatc ctgtgcaagc tcagcttgga gggtgatcac tctacacccc caagtgcata
      121 tgggtctgtc aaagcctata ctaactttga tgctgagcgg gatgctttga acattgaaac
      181 agccatcaag accaaaggtg tggatgaggt caccattgtc aacattttga ccaaccgcag
      241 caatgcacag agacaggata ttgccttcgc ctaccagaga aggaccaaaa aggaacttgc
      301 atcagcactg aagtcagcct tatctggcca cctggagacg gtgattttgg gcctattgaa
      361 gacacctgct cagtatgacg cttctgagct aaaagcttcc atgaaggggc tgggaaccga
      421 cgaggactct ctcattgaga tcatctgctc cagaaccaac caggagctgc aggaaattaa
      481 cagagtctac aaggaaatgt acaagactga tctggagaag gacattattt cggacacatc
      541 tggtgacttc cgcaagctga tggttgccct ggcaaagggt agaagagcag aggatggctc
      601 tgtcattgat tatgaactga ttgaccaaga tgctcgggat ctctatgacg ctggagtgaa
      661 gaggaaagga actgatgttc ccaagtggat cagcatcatg accgagcgga gcgtgcccca
      721 cctccagaaa gtatttgata ggtacaagag ttacagccct tatgacatgt tggaaagcat
      781 caggaaagag gttaaaggag acctggaaaa tgctttcctg aacctggttc agtgcattca
      841 gaacaagccc ctgtattttg ctgatcggct gtatgactcc atgaagggca aggggacgcg
      901 agataaggtc ctgatcagaa tcatggtctc ccgcagtgaa gtggacatgt tgaaaattag
      961 gtctgaattc aagagaaagt acggcaagtc cctgtactat tatatccagc aagacactaa
     1021 gggcgactac cagaaagcgc tgctgtacct gtgtggtgga gatgactgaa gcccgacacg
     1081 gcctgagcgt ccagaaatgg tgctcaccat gcttccagct aacaggtcta gaaaaccagc
     1141 ttgcgaataa cagtccccgt ggccatccct gtgagggtga cgttagcatt acccccaacc
     1201 tcattttagt tgcctaagca ttgcctggcc ttcctgtcta gtctctcctg taagccaaag
     1261 aaatgaacat tccaaggagt tggaagtgaa gtctatgatg tgaaacactt tgcctcctgt
     1321 gtactgtgtc ataaacagat gaataaactg aatttgtact tt
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

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&&&&&&&&



    
 
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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_006216. Homo sapiens seri...[gi:24307906] Links  


LOCUS       SERPINE2                2129 bp    mRNA    linear   PRI 24-OCT-2002
DEFINITION  Homo sapiens serine (or cysteine) proteinase inhibitor, clade E
            (nexin, plasminogen activator inhibitor type 1), member 2
            (SERPINE2), mRNA.
ACCESSION   NM_006216
VERSION     NM_006216.1  GI:24307906
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2129)
  AUTHORS   Sommer,J., Gloor,S.M., Rovelli,G.F., Hofsteenge,J., Nick,H.,
            Meier,R. and Monard,D.
  TITLE     cDNA sequence coding for a rat glia-derived nexin and its homology
            to members of the serpin superfamily
  JOURNAL   Biochemistry 26 (20), 6407-6410 (1987)
  MEDLINE   88107544
   PUBMED   3427015
REFERENCE   2  (bases 1 to 2129)
  AUTHORS   Carter,R.E., Cerosaletti,K.M., Burkin,D.J., Fournier,R.E.,
            Jones,C., Greenberg,B.D., Citron,B.A. and Festoff,B.W.
  TITLE     The gene for the serpin thrombin inhibitor (PI7), protease nexin I,
            is located on human chromosome 2q33-q35 and on syntenic regions in
            the mouse and sheep genomes
  JOURNAL   Genomics 27 (1), 196-199 (1995)
  MEDLINE   95394459
   PUBMED   7665170
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC015663.1.
FEATURES             Location/Qualifiers
     source          1..2129
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33-q35"
                     /clone="MGC:23129 IMAGE:4578406"
                     /tissue_type="Skin, melanotic melanoma."
                     /clone_lib="NIH_MGC_20"
                     /lab_host="DH10B-R"
                     /note="Vector: pOTB7"
     gene            1..2129
                     /gene="SERPINE2"
                     /note="GDN; PI7; PN1; PNI; nexin"
                     /db_xref="LocusID:5270"
                     /db_xref="MIM:177010"
     CDS             210..1406
                     /gene="SERPINE2"
                     /note="protease inhibitor 7 (protease nexin I);
                     glia-derived nexin"
                     /codon_start=1
                     /product="serine (or cysteine) proteinase inhibitor, clade
                     E (nexin, plasminogen activator inhibitor type 1), member
                     2"
                     /protein_id="NP_006207.1"
                     /db_xref="GI:24307907"
                     /db_xref="LocusID:5270"
                     /db_xref="MIM:177010"
                     /translation="MNWHLPLFLLASVTLPSICSHFNPLSLEELGSNTGIQVFNQIVK
                     SRPHDNIVISPHGIASVLGMLQLGADGRTKKQLAMVMRYGVNGVGKILKKINKAIVSK
                     KNKDIVTVANAVFVKNASEIEVPFVTRNKDVFQCEVRNVNFEDPASACDSINAWVKNE
                     TRDMIDNLLSPDLIDGVLTRLVLVNAVYFKGLWKSRFQPENTKKRTFVAADGKSYQVP
                     MLAQLSVFRCGSTSAPNDLWYNFIELPYHGESISMLIALPTESSTPLSAIIPHISTKT
                     IDSWMSIMVPKRVQVILPKFTAVAQTDLKEPLKVLGITDMFDSSKANFAKITTGSENL
                     HVSHILQKAKIEVSEDGTKASAATTAILIARSSPPWFIVDRPFLFFIRHNPTGAVLFM
                     GQINKP"
     misc_feature    267..1403
                     /gene="SERPINE2"
                     /note="serpin; Region: Serpin (serine protease inhibitor).
                     Structure is a multi-domain fold containing a bundle of
                     helices and a beta sandwich"
                     /db_xref="CDD:pfam00079"
     misc_feature    315..1403
                     /gene="SERPINE2"
                     /note="SERPIN; Region: SERine Proteinase INhibitors"
                     /db_xref="CDD:smart00093"
BASE COUNT      563 a    497 c    488 g    581 t
ORIGIN      
        1 ggcacgaggg ctgcccgggc tgcgcggcgt ctgcaggcgc caccgctgcc tctttccggc
       61 tgtgaccctc ctcgccggcg ccgcttggct gcgtcctccg actccccgcg ccgccgagac
      121 caggctcccg ctccggttgc ggccgcaccg ccctccgcgg ccgccccctg gggatccagc
      181 gagcgcggtc gtccttggtg gaaggaacca tgaactggca tctccccctc ttcctcttgg
      241 cctctgtgac gctgccttcc atctgctccc acttcaatcc tctgtctctc gaggaactag
      301 gctccaacac ggggatccag gttttcaatc agattgtgaa gtcgaggcct catgacaaca
      361 tcgtgatctc tccccatggg attgcgtcgg tcctggggat gcttcagctg ggggcggacg
      421 gcaggaccaa gaagcagctc gccatggtga tgagatacgg cgtaaatgga gttggtaaaa
      481 tattaaagaa gatcaacaag gccatcgtct ccaagaagaa taaagacatt gtgacagtgg
      541 ctaacgccgt gtttgttaag aatgcctctg aaattgaagt gccttttgtt acaaggaaca
      601 aagatgtgtt ccagtgtgag gtccggaatg tgaactttga ggatccagcc tctgcctgtg
      661 attccatcaa tgcatgggtt aaaaatgaaa ccagggatat gattgacaat ctgctgtccc
      721 cagatcttat tgatggtgtg ctcaccagac tggtcctcgt caacgcagtg tatttcaagg
      781 gtctgtggaa atcacggttc caacccgaga acacaaagaa acgcactttc gtggcagccg
      841 acgggaaatc ctatcaagtg ccaatgctgg cccagctctc cgtgttccgg tgtgggtcga
      901 caagtgcccc caatgattta tggtacaact tcattgaact gccctaccac ggggaaagca
      961 tcagcatgct gattgcactg ccgactgaga gctccactcc gctgtctgcc atcatcccac
     1021 acatcagcac caagaccata gacagctgga tgagcatcat ggtgcccaag agggtgcagg
     1081 tgatcctgcc caagttcaca gctgtagcac aaacagattt gaaggagccg ctgaaagttc
     1141 ttggcattac tgacatgttt gattcatcaa aggcaaattt tgcaaaaata acaacagggt
     1201 cagaaaacct ccatgtttct catatcttgc aaaaagcaaa aattgaagtc agtgaagatg
     1261 gaaccaaagc ttcagcagca acaactgcaa ttctcattgc aagatcatcg cctccctggt
     1321 ttatagtaga cagacctttt ctgtttttca tccgacataa tcctacaggt gctgtgttat
     1381 tcatggggca gataaacaaa ccctgaagag tatacaaaag aaaccatgca aagcaacgac
     1441 tactttgcta cgaagaaaga ctcctttcct gcatctttca tagttctgtt aaatattttt
     1501 gtacatcgct tctttttcaa aactagttct taggaacaga ctcgatgcaa gtgtttctgt
     1561 tctgggaggt attggaggga aaaaacagca ggatggctgg aacactgtac tgaggaatga
     1621 atagaaaggc ttccagatgt ctaaaagatt ctttaaacta ctgaactgtt acctaggtta
     1681 acaaccctgt tgagtatttg ctgtttgtcc agttcaggaa tttttgtttt gttttgtcta
     1741 tatgtgcggc ttttcagaag aaatttaatc agtgtgacag aaaaaaaaaa tgttttatgg
     1801 tagcttttac tttttatgaa aaaaaaatta tttgcctttt aaattctttt cccccatccc
     1861 cctccaaagt cttgatagca agcgttattt tgggggtaga aacggtgaaa tctctagcct
     1921 ctttgtgttt ttgttgttgt tgttgttgtt gttttatata atgcatgtat tcactaaaat
     1981 aaaatttaaa aaactcctgt cttgctagac aaggttgctg ttgtgcagtg tgcctgtcac
     2041 tactggtctg tactccttgg atttgcattt ttgtattttg tacaaagtaa aaataaactg
     2101 ttatgagtag taaaaaaaaa aaaaaaaaa
//



Revised: July 5, 2002.
 
 


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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_003735. Homo sapiens prot...[gi:14196452] Links  


LOCUS       PCDHGA12                4774 bp    mRNA    linear   PRI 25-MAY-2001
DEFINITION  Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12),
            transcript variant 1, mRNA.
ACCESSION   NM_003735
VERSION     NM_003735.2  GI:14196452
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4774)
  AUTHORS   Matsuyoshi,N. and Imamura,S.
  TITLE     Multiple cadherins are expressed in human fibroblasts
  JOURNAL   Biochem. Biophys. Res. Commun. 235 (2), 355-358 (1997)
  MEDLINE   97342499
   PUBMED   9199196
REFERENCE   2  (bases 1 to 4774)
  AUTHORS   Wu,Q. and Maniatis,T.
  TITLE     A striking organization of a large family of human neural
            cadherin-like cell adhesion genes
  JOURNAL   Cell 97 (6), 779-790 (1999)
  MEDLINE   99308636
   PUBMED   10380929
REFERENCE   3  (bases 1 to 4774)
  AUTHORS   Wu,Q. and Maniatis,T.
  TITLE     Large exons encoding multiple ectodomains are a characteristic
            feature of protocadherin genes
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 97 (7), 3124-3129 (2000)
  MEDLINE   20202599
   PUBMED   10716726
REFERENCE   4  (bases 1 to 4774)
  AUTHORS   Yagi,T. and Takeichi,M.
  TITLE     Cadherin superfamily genes: functions, genomic organization, and
            neurologic diversity
  JOURNAL   Genes Dev. 14 (10), 1169-1180 (2000)
  MEDLINE   20278059
   PUBMED   10817752
REFERENCE   5  (bases 1 to 4774)
  AUTHORS   Nollet,F., Kools,P. and van Roy,F.
  TITLE     Phylogenetic analysis of the cadherin superfamily allows
            identification of six major subfamilies besides several solitary
            members
  JOURNAL   J. Mol. Biol. 299 (3), 551-572 (2000)
  MEDLINE   20296790
   PUBMED   10835267
REFERENCE   6  (bases 1 to 4774)
  AUTHORS   Wu,Q., Zhang,T., Cheng,J.F., Kim,Y., Grimwood,J., Schmutz,J.,
            Dickson,M., Noonan,J.P., Zhang,M.Q., Myers,R.M. and Maniatis,T.
  TITLE     Comparative DNA sequence analysis of mouse and human protocadherin
            gene clusters
  JOURNAL   Genome Res. 11 (3), 389-404 (2001)
  MEDLINE   21154914
   PUBMED   11230163
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF152321.1, AL589367.1 and
            AB011160.1.
            On May 25, 2001 this sequence version replaced gi:8850231.
            Summary: This gene is a member of the protocadherin gamma gene
            cluster, one of three related clusters tandemly linked on
            chromosome five. These gene clusters have an immunoglobulin-like
            organization, suggesting that a novel mechanism may be involved in
            their regulation and expression. The gamma gene cluster includes 22
            genes divided into 3 subfamilies. Subfamily A contains 12 genes,
            subfamily B contains 7 genes and 2 pseudogenes, and the more
            distantly related subfamily C contains 3 genes. The tandem array of
            22 large, variable region exons are followed by a constant region,
            containing 3 exons shared by all genes in the cluster. Each
            variable region exon encodes the extracellular region, which
            includes 6 cadherin ectodomains and a transmembrane region. The
            constant region exons encode the common cytoplasmic region. These
            neural cadherin-like cell adhesion proteins most likely play a
            critical role in the establishment and function of specific
            cell-cell connections in the brain. Alternative splicing has been
            described for the gamma cluster genes.
            Transcript Variant: This variant (1) includes the constant region
            exons and encodes the longest isoform (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4774
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31"
     gene            1..4774
                     /gene="PCDHGA12"
                     /note="KIAA0588; FIB3; CDH21; PCDH-GAMMA-A12"
                     /db_xref="LocusID:26025"
                     /db_xref="MIM:603059"
     CDS             170..2968
                     /gene="PCDHGA12"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cadherin 21; fibroblast cadherin FIB3"
                     /codon_start=1
                     /product="protocadherin gamma subfamily A, 12, isoform 1
                     precursor"
                     /protein_id="NP_003726.1"
                     /db_xref="GI:8850232"
                     /db_xref="LocusID:26025"
                     /db_xref="MIM:603059"
                     /db_xref="LocusID:26025"
                     /db_xref="MIM:603059"
                     /translation="MIPARLHRDYKGLVLLGILLGTLWETGCTQIRYSVPEELEKGSR
                     VGDISRDLGLEPRELAERGVRIIPRGRTQLFALNPRSGSLVTAGRIDREELCMGAIKC
                     QLNLDILMEDKVKIYGVEVEVRDINDNAPYFRESELEIKISENAATEMRFPLPHAWDP
                     DIGKNSLQSYELSPNTHFSLIVQNGADGSKYPELVLKRALDREEKAAHHLVLTASDGG
                     DPVRTGTARIRVMVLDANDNAPAFAQPEYRASVPENLALGTQLLVVNATDPDEGVNAE
                     VRYSFRYVDDKAAQVFKLDCNSGTISTIGELDHEESGFYQMEVQAMDNAGYSARAKVL
                     ITVLDVNDNAPEVVLTSLASSVPENSPRGTLIALLNVNDQDSEENGQVICFIQGNLPF
                     KLEKSYGNYYSLVTDIVLDREQVPSYNITVTATDRGTPPLSTETHISLNVADTNDNPP
                     VFPQASYSAYIPENNPRGVSLVSVTAHDPDCEENAQITYSLAENTIQGASLSSYVSIN
                     SDTGVLYALSSFDYEQFRDLQVKVMARDNGHPPLSSNVSLSLFVLDQNDNAPEILYPA
                     LPTDGSTGVELAPRSAEPGYLVTKVVAVDRDSGQNAWLSYRLLKASEPGLFSVGLHTG
                     EVRTARALLDRDALKQSLVVAVQDHGQPPLSATVTLTVAVADSIPQVLADLGSLESPA
                     NSETSDLTLYLVVAVAAVSCVFLAFVILLLALRLRRWHKSRLLQASGGGLTGAPASHF
                     VGVDGVQAFLQTYSHEVSLTTDSRKSHLIFPQPNYADMLVSQESFEKSEPLLLSGDSV
                     FSKDSHGLIEQAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASA
                     SEAADGSSTLGGGAGTMGLSARYGPQFTLQHVPDYRQNVYIPGSNATLTNAAGKRDGK
                     APAGGNGNKKKSGKKEKK"
     sig_peptide     170..256
                     /gene="PCDHGA12"
     mat_peptide     257..2965
                     /gene="PCDHGA12"
                     /product="protocadherin gamma subfamily A, 12, isoform 1"
     misc_feature    362..562
                     /gene="PCDHGA12"
                     /note="CA; Region: Cadherin repeats."
                     /db_xref="CDD:CA"
     misc_feature    593..868
                     /gene="PCDHGA12"
                     /note="cadherin; Region: Cadherin domain"
                     /db_xref="CDD:pfam00028"
     misc_feature    638..889
                     /gene="PCDHGA12"
                     /note="CA; Region: Cadherin repeats."
                     /db_xref="CDD:CA"
     misc_feature    908..1183
                     /gene="PCDHGA12"
                     /note="cadherin; Region: Cadherin domain"
                     /db_xref="CDD:pfam00028"
     misc_feature    959..1204
                     /gene="PCDHGA12"
                     /note="CA; Region: Cadherin repeats."
                     /db_xref="CDD:CA"
     misc_feature    1232..1495
                     /gene="PCDHGA12"
                     /note="cadherin; Region: Cadherin domain"
                     /db_xref="CDD:pfam00028"
     misc_feature    1274..1519
                     /gene="PCDHGA12"
                     /note="CA; Region: Cadherin repeats."
                     /db_xref="CDD:CA"
     misc_feature    1538..1792
                     /gene="PCDHGA12"
                     /note="cadherin; Region: Cadherin domain"
                     /db_xref="CDD:pfam00028"
     misc_feature    1589..1849
                     /gene="PCDHGA12"
                     /note="CA; Region: Cadherin repeats."
                     /db_xref="CDD:CA"
     misc_feature    1904..2161
                     /gene="PCDHGA12"
                     /note="cadherin; Region: Cadherin domain"
                     /db_xref="CDD:pfam00028"
     misc_feature    1940..2167
                     /gene="PCDHGA12"
                     /note="CA; Region: Cadherin repeats."
                     /db_xref="CDD:CA"
     variation       complement(1906)
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3749774"
     variation       2809
                     /gene="PCDHGA12"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2233612"
     variation       2998
                     /gene="PCDHGA12"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2233613"
     polyA_signal    4749..4754
                     /gene="PCDHGA12"
     polyA_site      4774
                     /gene="PCDHGA12"
                     /evidence=experimental
BASE COUNT     1082 a   1424 c   1282 g    986 t
ORIGIN      
        1 acgcgcctga agcacaaagc agatagctag gaatgaacca tccctgggag tatgtggaaa
       61 caacggagga gctctgactt cccaactgtc ccattctatg ggcgaaggaa ctgctcctga
      121 cttcagtggt taagggcaga attgaaaata attctggagg aagataagaa tgattcctgc
      181 gcgactgcac cgggactaca aagggcttgt cctgctggga atcctcctgg ggactctgtg
      241 ggagaccgga tgcacccaga tacgctattc agttccggaa gagctggaga aaggctctag
      301 ggtgggcgac atctccaggg acctggggct ggagccccgg gagctcgcgg agcgcggagt
      361 ccgcatcatc cccagaggta ggacgcagct tttcgccctg aatccgcgca gcggcagctt
      421 ggtcacggcg ggcaggatag accgggagga gctctgtatg ggggccatca agtgtcaatt
      481 aaatctagac attctgatgg aggataaagt gaaaatatat ggagtagaag tagaagtaag
      541 ggacattaac gacaatgcgc cttactttcg tgaaagtgaa ttagaaataa aaattagtga
      601 aaatgcagcc actgagatgc ggttccctct accccacgcc tgggatccgg atatcgggaa
      661 gaactctctg cagagctacg agctcagccc gaacactcac ttctccctca tcgtgcaaaa
      721 tggagccgac ggtagtaagt accccgaatt ggtgctgaaa cgcgccctgg accgcgaaga
      781 aaaggctgct caccacctgg tccttacggc ctccgacggg ggcgacccgg tgcgcacagg
      841 caccgcgcgc atccgcgtga tggttctgga tgcgaacgac aacgcaccag cgtttgctca
      901 gcccgagtac cgcgcgagcg ttccggagaa tctggccttg ggcacgcagc tgcttgtagt
      961 caacgctacc gaccctgacg aaggagtcaa tgcggaagtg aggtattcct tccggtatgt
     1021 ggacgacaag gcggcccaag ttttcaaact agattgtaat tcagggacaa tatcaacaat
     1081 aggggagttg gaccacgagg agtcaggatt ctaccagatg gaagtgcaag caatggataa
     1141 tgcaggatat tctgcgcgag ccaaagtcct gatcactgtt ctggacgtga acgacaatgc
     1201 cccagaagtg gtcctcacct ctctcgccag ctcggttccc gaaaactctc ccagagggac
     1261 attaattgcc cttttaaatg taaatgacca agattctgag gaaaacggac aggtgatctg
     1321 tttcatccaa ggaaatctgc cctttaaatt agaaaaatct tacggaaatt actatagttt
     1381 agtcacagac atagtcttgg atagggaaca ggttcctagc tacaacatca cagtgaccgc
     1441 cactgaccgg ggaaccccgc ccctatccac ggaaactcat atctcgctga acgtggcaga
     1501 caccaacgac aacccgccgg tcttccctca ggcctcctat tccgcttata tcccagagaa
     1561 caatcccaga ggagtttccc tcgtctctgt gaccgcccac gaccccgact gtgaagagaa
     1621 cgcccagatc acttattccc tggctgagaa caccatccaa ggggcaagcc tatcgtccta
     1681 cgtgtccatc aactccgaca ctggggtact gtatgcgctg agctccttcg actacgagca
     1741 gttccgagac ttgcaagtga aagtgatggc gcgggacaac gggcacccgc ccctcagcag
     1801 caacgtgtcg ttgagcctgt tcgtgctgga ccagaacgac aatgcgcccg agatcctgta
     1861 ccccgccctc cccacggacg gttccactgg cgtggagctg gctccccgct ccgcagagcc
     1921 cggctacctg gtgaccaagg tggtggcggt ggacagagac tccggccaga acgcctggct
     1981 gtcctaccgt ctgctcaagg ccagcgagcc gggactcttc tcggtgggtc tgcacacggg
     2041 cgaggtgcgc acggcgcgag ccctgctgga cagagacgcg ctcaagcaga gcctcgtagt
     2101 ggccgtccag gaccacggcc agccccctct ctccgccact gtcacgctca ccgtggccgt
     2161 ggccgacagc atcccccaag tcctggcgga cctcggcagc ctcgagtctc cagctaactc
     2221 tgaaacctca gacctcactc tgtacctggt ggtagcggtg gccgcggtct cctgcgtctt
     2281 cctggccttc gtcatcttgc tgctggcgct caggctgcgg cgctggcaca agtcacgcct
     2341 gctgcaggct tcaggaggcg gcttgacagg agcgccggcg tcgcactttg tgggcgtgga
     2401 cggggtgcag gctttcctgc agacctattc ccacgaggtt tccctcacca cggactcgcg
     2461 gaagagtcac ctgatcttcc cccagcccaa ctatgcagac atgctcgtca gccaggagag
     2521 ctttgaaaaa agcgagcccc ttttgctgtc aggtgattcg gtattttcta aagacagtca
     2581 tgggttaatt gagcaagccc cgcccaacac ggactggcgt ttctctcagg cccagagacc
     2641 cggcaccagc ggctcccaaa atggcgatga caccggcacc tggcccaaca accagtttga
     2701 cacagagatg ctgcaagcca tgatcttggc gtccgccagt gaagctgctg atgggagctc
     2761 caccctggga gggggtgccg gcaccatggg attgagcgcc cgctacggac cccagttcac
     2821 cctgcagcac gtgcccgact accgccagaa tgtctacatc ccaggcagca atgccacact
     2881 gaccaacgca gctggcaagc gggatggcaa ggccccagca ggtggcaatg gcaacaagaa
     2941 gaagtcgggc aagaaggaga agaagtaaca tggaggccag gccaagagcc acagggcggc
     3001 ctctccccaa ccagcccagc ttctccttac ctgcacccag gcctcagagt ttcagggcta
     3061 acccccagaa tactggtagg ggccaaggcc atgctcccct tgggaaacag aaacaagtgc
     3121 ccagtcagca cctacccctt cccccccagg gggttgaata tgcaaaagca gttccgctgg
     3181 gaacccccat ccaatcaact gctgtaccca tgggggtagt ggggttactg tagacaccaa
     3241 gaaccatttg ccacaccccg tttagttaca gctgaactcc tccatcttcc aaatcaatca
     3301 ggcccatcca tcccatgcct ccctcctccc caccccactc caacagttcc tctttcccga
     3361 gtaaggtggt tggggtgttg aagtaccaag taacctacaa gcctcctagt tctgaaaagt
     3421 tggaagggca tcatgacctc ttggcctctc ctttgattct caatcttccc ccaaagcatg
     3481 gtttggtgcc agccccttca cctccttcca gagcccaaga tcaatgctca agttttggag
     3541 gacatgatca ccatccccat ggtactgatg cttgctggat ttagggaggg cattttgcta
     3601 ccaagcctct tcccaacgcc ctggggacca gtcttctgtt ttgtttttca ttgtttgacg
     3661 tttccactgc atgccttgac ttcccccacc tcctcctcaa acaagagact ccactgcatg
     3721 ttccaagaca gtatggggtg gtaagataag gaagggaagt gtgtggatgt ggatggtggg
     3781 ggcatggaca aagcttgaca catcaagtta tcaaggcctt ggaggaggct ctgtatgtcc
     3841 tcaggggact gacaacatcc tccagattcc agccataaac caataactag gctggaccct
     3901 tcccactaca taatagggct cagcccaggc agccagcttt gggctgagct aacaggacca
     3961 atggattaaa ctggcatttc agtccaagga agctcgaagc aggtttagga ccaggtcccc
     4021 ttgagaggtc agaggggcct ctgtgggtgc tgggtactcc agaggtgcca ctggtggaag
     4081 ggtcagcgga gccccagcag gaagggtggg ccagccaggc cattcttagt ccctgggttg
     4141 gggaggcagg gagctagggc agggaccaaa tgaacagaaa gtctcagccc aggatggggc
     4201 ttcttcaaca gggcccctgc cctcctgaag cctcagtcct tcaccttgcc aggtgccgtt
     4261 tctcttccgt gaaggccact gcccaggtcc ccagtgcgcc ccctagtggc catagcctgg
     4321 ttaaagttcc ccagtgcctc cttgtgcata gaccttcttc tcccaccccc ttctgcccct
     4381 gggtccccgg ccatccagcg gggctgccag agaaccccag acctgccctt acagtagtgt
     4441 agcgccccct ccctctttcg gctggtgtag aatagccagt agtgtagtgc ggtgtgcttt
     4501 tacgtgatgg cgggtgggca gcgggcggcg ggctccgcgc agccgtctgt ccttgatctg
     4561 cccgcggcgg cccgtgttgt gttttgtgct gtgtccacgc gctaaggcga ccccctcccc
     4621 cgtactgact tctcctataa gcgcttctct tcgcatagtc acgtagctcc caccccaccc
     4681 tcttcctgtg tctcacgcaa gttttatact ctaatattta tatggctttt tttcttcgac
     4741 aaaaaaataa taaaacgttt cttctgaaaa gctg
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

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&&&&&&&


    
 
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  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_016241[gi:7705902]  


LOCUS       LOC51169                 968 bp    mRNA    linear   PRI 02-NOV-2000
DEFINITION  Homo sapiens endomucin-1 (LOC51169), mRNA.
ACCESSION   NM_016241
VERSION     NM_016241.1  GI:7705902
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 968)
  AUTHORS   Kinoshita,M., Honjo,T. and Noda,M.
  TITLE     Human endomucin-1
  JOURNAL   Published Only in DataBase (1999)
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AB034694.1.
FEATURES             Location/Qualifiers
     source          1..968
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /tissue_type="vascular endothelium"
                     /dev_stage="neonate"
     gene            1..968
                     /gene="LOC51169"
                     /db_xref="LocusID:51169"
     sig_peptide     1..20
                     /gene="LOC51169"
     CDS             168..953
                     /gene="LOC51169"
                     /codon_start=1
                     /product="endomucin-1"
                     /protein_id="NP_057325.1"
                     /db_xref="GI:7705903"
                     /db_xref="LocusID:51169"
                     /translation="MRLLQATVLFFLLSNSLCHSEDGKDVQNDSIPTPAETSTTKASV
                     TIPGIVSVTNPNKPADGTPPEGTTKSDVSQTSLVTTINSLTTPKHEVGTTTEGPLRNE
                     SSTMKITVPNTPTSNANSTLPGSQNKTENQSSIRTTEISVTTQLLDALPKITATSSAS
                     LTTAHTMSLLQDTEDRKIATTPSTTPSYSSIILPVVIALVVITLLVFTLVGLYRICWK
                     RDPGTPENGNDQPQSDKESVKLLTVKTISHESGEHSAQGKTKN"
BASE COUNT      297 a    263 c    193 g    215 t
ORIGIN      
        1 gggccccccc tcgtgccgtc agaatcccca aaataagtag gaatgggcag cgtctgctca
       61 cagtcagtac acctttccca tttgctaata cggcctggcc aggctgagag gaatccttcc
      121 ctgccttacc ctggacagtg aagccactga gaccatcggt aggcaccatg cggctgcttc
      181 aagcgactgt tcttttcttc cttttgtcca acagtctctg ccacagtgag gacggcaaag
      241 atgttcagaa tgactctatt ccaacaccgg cagaaacttc cacaacaaaa gcctctgtca
      301 caataccagg catcgtgtca gtgacaaatc ctaacaaacc agcagatgga acacctcccg
      361 aaggaacgac caaaagtgac gtatcccaaa catctttggt gacaacaatt aattcactga
      421 caacaccaaa acatgaagtg ggaacaacaa ctgaaggtcc cctaaggaat gaaagttcca
      481 ctatgaaaat aacagtgcca aatactccaa cttcaaatgc taattcaacg ctaccaggtt
      541 cccagaacaa gactgagaat cagagttcaa tcagaacaac ggaaatatca gttactactc
      601 aactactgga tgccttgccg aaaatcactg caacatcctc tgcatctcta acaactgcac
      661 acaccatgtc actgcttcaa gatactgagg ataggaagat tgcaaccact ccatcaacca
      721 ccccctccta ttccagtatc attttgcctg tggttatcgc gctggttgtt ataacactct
      781 tggtatttac tctggtgggt ttgtatcgaa tatgctggaa gagagaccca ggcactccag
      841 aaaacggaaa tgatcagcct cagtccgata aagagagtgt gaagctgctc actgttaaga
      901 caatctctca tgagtctggc gaacactctg cacaggggaa aaccaagaac tgacatcgtg
      961 atggatcc
//



Revised: July 5, 2002.
 
 


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Oct 21 2002 11:56:56 

 



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