COL9A1

Collagen, type IX, alpha 1
PDB rendering based on 2uur.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 2uur​
Identifiers
Symbols	COL9A1 ; DJ149L1.1.2; FLJ40263; MED
External IDs	Template:OMIM5 Template:MGI HomoloGene: 1393
Gene ontology Molecular function Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Collagen, type IX, alpha 1, also known as COL9A1, is a human gene.

This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene may be associated with multiple epiphyseal dysplasia. Two transcript variants have been identified for this gene.

Further reading

• Muragaki Y, Nishimura I, Henney A; et al. (1990). "The alpha 1 (IX) collagen gene gives rise to two different transcripts in both mouse embryonic and human fetal RNA". Proc. Natl. Acad. Sci. U.S.A. 87 (7): 2400–4. PMID 1690886.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Muragaki Y, Kimura T, Ninomiya Y, Olsen BR (1990). "The complete primary structure of two distinct forms of human alpha 1 (IX) collagen chains". Eur. J. Biochem. 192 (3): 703–8. PMID 2209617.CS1 maint: Multiple names: authors list (link)
• Fahrig T, Landa C, Pesheva P; et al. (1988). "Characterization of binding properties of the myelin-associated glycoprotein to extracellular matrix constituents". EMBO J. 6 (10): 2875–83. PMID 2446864.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kimura T, Mattei MG, Stevens JW; et al. (1989). "Molecular cloning of rat and human type IX collagen cDNA and localization of the alpha 1(IX) gene on the human chromosome 6". Eur. J. Biochem. 179 (1): 71–8. PMID 2465149.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fitch JM, Mentzer A, Mayne R, Linsenmayer TF (1988). "Acquisition of type IX collagen by the developing avian primary corneal stroma and vitreous". Dev. Biol. 128 (2): 396–405. PMID 3294062.CS1 maint: Multiple names: authors list (link)
• McCormick D, van der Rest M, Goodship J; et al. (1987). "Structure of the glycosaminoglycan domain in the type IX collagen-proteoglycan". Proc. Natl. Acad. Sci. U.S.A. 84 (12): 4044–8. PMID 3473493.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Richardson GP, Russell IJ, Duance VC, Bailey AJ (1987). "Polypeptide composition of the mammalian tectorial membrane". Hear. Res. 25 (1): 45–60. PMID 3542919.CS1 maint: Multiple names: authors list (link)
• Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA; et al. (1995). "Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening". Genomics. 23 (1): 42–50. doi:10.1006/geno.1994.1457. PMID 7829101.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Warman ML, Tiller GE, Polumbo PA; et al. (1993). "Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen (COL9A1)". Genomics. 17 (3): 694–8. PMID 8244386.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Diab M, Wu JJ, Eyre DR (1996). "Collagen type IX from human cartilage: a structural profile of intermolecular cross-linking sites". Biochem. J. 314 ( Pt 1): 327–32. PMID 8660302.CS1 maint: Multiple names: authors list (link)
• Pihlajamaa T, Vuoristo MM, Annunen S; et al. (1998). "Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule". Matrix Biol. 17 (3): 237–41. PMID 9707347.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Paassilta P, Lohiniva J, Göring HH; et al. (2001). "Identification of a novel common genetic risk factor for lumbar disk disease". JAMA. 285 (14): 1843–9. PMID 11308397.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Czarny-Ratajczak M, Lohiniva J, Rogala P; et al. (2001). "A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity". Am. J. Hum. Genet. 69 (5): 969–80. PMID 11565064.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wistow G, Bernstein SL, Wyatt MK; et al. (2002). "Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants". Mol. Vis. 8: 205–20. PMID 12107410.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Zhang P, Jimenez SA, Stokes DG (2003). "Regulation of human COL9A1 gene expression. Activation of the proximal promoter region by SOX9". J. Biol. Chem. 278 (1): 117–23. doi:10.1074/jbc.M208049200. PMID 12399468.CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mungall AJ, Palmer SA, Sims SK; et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pihlajamaa T, Lankinen H, Ylöstalo J; et al. (2004). "Characterization of recombinant amino-terminal NC4 domain of human collagen IX: interaction with glycosaminoglycans and cartilage oligomeric matrix protein". J. Biol. Chem. 279 (23): 24265–73. doi:10.1074/jbc.M402865200. PMID 15047691.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)