Details for: COL9A1
Associated with
Other Information
Genular Protein ID: 2001509862
Symbol: CO9A1_HUMAN
Name: Collagen alpha-1(IX) chain
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 2209617
Title: The complete primary structure of two distinct forms of human alpha 1 (IX) collagen chains.
PubMed ID: 2209617
PubMed ID: 9707347
Title: Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule.
PubMed ID: 9707347
PubMed ID: 14574404
Title: The DNA sequence and analysis of human chromosome 6.
PubMed ID: 14574404
DOI: 10.1038/nature02055
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 8660302
Title: Collagen type IX from human cartilage: a structural profile of intermolecular cross-linking sites.
PubMed ID: 8660302
DOI: 10.1042/bj3140327
PubMed ID: 2465149
Title: Molecular cloning of rat and human type IX collagen cDNA and localization of the alpha 1(IX) gene on the human chromosome 6.
PubMed ID: 2465149
PubMed ID: 1690886
Title: The alpha 1 (IX) collagen gene gives rise to two different transcripts in both mouse embryonic and human fetal RNA.
PubMed ID: 1690886
PubMed ID: 17553797
Title: Crystal structure of the N-terminal NC4 domain of collagen IX, a zinc binding member of the laminin-neurexin-sex hormone binding globulin (LNS) domain family.
PubMed ID: 17553797
PubMed ID: 11565064
Title: A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
PubMed ID: 11565064
DOI: 10.1086/324023
PubMed ID: 16909383
Title: A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.
PubMed ID: 16909383
DOI: 10.1086/506478
PubMed ID: 21421862
Title: Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.
PubMed ID: 21421862
DOI: 10.1167/iovs.10-7128
PubMed ID: 31090205
Title: Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.
PubMed ID: 31090205
DOI: 10.1002/ajmg.a.61191
Sequence Information:
- Length: 921
- Mass: 91869
- Checksum: A69BF076127283D0
- Sequence:
MKTCWKIPVF FFVCSFLEPW ASAAVKRRPR FPVNSNSNGG NELCPKIRIG QDDLPGFDLI SQFQVDKAAS RRAIQRVVGS ATLQVAYKLG NNVDFRIPTR NLYPSGLPEE YSFLTTFRMT GSTLKKNWNI WQIQDSSGKE QVGIKINGQT QSVVFSYKGL DGSLQTAAFS NLSSLFDSQW HKIMIGVERS SATLFVDCNR IESLPIKPRG PIDIDGFAVL GKLADNPQVS VPFELQWMLI HCDPLRPRRE TCHELPARIT PSQTTDERGP PGEQGPPGPP GPPGVPGIDG IDGDRGPKGP PGPPGPAGEP GKPGAPGKPG TPGADGLTGP DGSPGSIGSK GQKGEPGVPG SRGFPGRGIP GPPGPPGTAG LPGELGRVGP VGDPGRRGPP GPPGPPGPRG TIGFHDGDPL CPNACPPGRS GYPGLPGMRG HKGAKGEIGE PGRQGHKGEE GDQGELGEVG AQGPPGAQGL RGITGIVGDK GEKGARGLDG EPGPQGLPGA PGDQGQRGPP GEAGPKGDRG AEGARGIPGL PGPKGDTGLP GVDGRDGIPG MPGTKGEPGK PGPPGDAGLQ GLPGVPGIPG AKGVAGEKGS TGAPGKPGQM GNSGKPGQQG PPGEVGPRGP QGLPGSRGEL GPVGSPGLPG KLGSLGSPGL PGLPGPPGLP GMKGDRGVVG EPGPKGEQGA SGEEGEAGER GELGDIGLPG PKGSAGNPGE PGLRGPEGSR GLPGVEGPRG PPGPRGVQGE QGATGLPGVQ GPPGRAPTDQ HIKQVCMRVI QEHFAEMAAS LKRPDSGATG LPGRPGPPGP PGPPGENGFP GQMGIRGLPG IKGPPGALGL RGPKGDLGEK GERGPPGRGP NGLPGAIGLP GDPGPASYGR NGRDGERGPP GVAGIPGVPG PPGPPGLPGF CEPASCTMQA GQRAFNKGPD P
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.