Collagen, type IX, alpha 1 explained

Collagen alpha-1(IX) chain is a protein that in humans is encoded by the COL9A1 gene.^{[1] [2]}

This gene encodes one of the three alpha chains of type IX collagen, a 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.^[2]

External links

• GeneReviews/NCBI/NIH/UW entry on Multiple Epiphyseal Dysplasia, Dominant
• GeneReviews/NCBI/NIH/UW entry on Stickler Syndrome

Further reading

• Muragaki Y, Nishimura I, Henney A . 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 . 1990 . 1690886 . 53696 . 10.1073/pnas.87.7.2400 . 1990PNAS...87.2400M . etal. free .
• Muragaki Y, Kimura T, Ninomiya Y, Olsen BR . The complete primary structure of two distinct forms of human alpha 1 (IX) collagen chains. . Eur. J. Biochem. . 192 . 3 . 703–8 . 1990 . 2209617 . 10.1111/j.1432-1033.1990.tb19279.x . free .
• Fahrig T, Landa C, Pesheva P . Characterization of binding properties of the myelin-associated glycoprotein to extracellular matrix constituents. . EMBO J. . 6 . 10 . 2875–83 . 1988 . 2446864 . 553721 . 10.1002/j.1460-2075.1987.tb02590.x. etal.
• Kimura T, Mattei MG, Stevens JW . 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 . 1989 . 2465149 . 10.1111/j.1432-1033.1989.tb14522.x . etal. free .
• Fitch JM, Mentzer A, Mayne R, Linsenmayer TF . Acquisition of type IX collagen by the developing avian primary corneal stroma and vitreous. . Dev. Biol. . 128 . 2 . 396–405 . 1988 . 3294062 . 10.1016/0012-1606(88)90301-6 .
• McCormick D, van der Rest M, Goodship J . Structure of the glycosaminoglycan domain in the type IX collagen-proteoglycan. . Proc. Natl. Acad. Sci. U.S.A. . 84 . 12 . 4044–8 . 1987 . 3473493 . 305018 . 10.1073/pnas.84.12.4044 . 1987PNAS...84.4044M . etal. free .
• Richardson GP, Russell IJ, Duance VC, Bailey AJ . Polypeptide composition of the mammalian tectorial membrane. . Hear. Res. . 25 . 1 . 45–60 . 1987 . 3542919 . 10.1016/0378-5955(87)90078-5 . 42559806 .
• Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA . Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. . Genomics . 23 . 1 . 42–50 . 1995 . 7829101 . 10.1006/geno.1994.1457 . etal.
• Warman ML, Tiller GE, Polumbo PA . 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 . 1993 . 8244386 . 10.1006/geno.1993.1391 . etal.
• Diab M, Wu JJ, Eyre DR . Collagen type IX from human cartilage: a structural profile of intermolecular cross-linking sites. . Biochem. J. . 314 . 1. 327–32 . 1996 . 8660302 . 1217044 . 10.1042/bj3140327.
• Pihlajamaa T, Vuoristo MM, Annunen S . 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 . 1998 . 9707347 . 10.1016/S0945-053X(98)90063-4 . etal.
• Paassilta P, Lohiniva J, Göring HH . Identification of a novel common genetic risk factor for lumbar disk disease. . JAMA . 285 . 14 . 1843–9 . 2001 . 11308397 . 10.1001/jama.285.14.1843 . etal. free .
• Czarny-Ratajczak M, Lohiniva J, Rogala P . A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. . Am. J. Hum. Genet. . 69 . 5 . 969–80 . 2001 . 11565064 . 1274373 . 10.1086/324023 . etal.
• Wistow G, Bernstein SL, Wyatt MK . 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 . 2002 . 12107410 . etal.
• Zhang P, Jimenez SA, Stokes DG . Regulation of human COL9A1 gene expression. Activation of the proximal promoter region by SOX9. . J. Biol. Chem. . 278 . 1 . 117–23 . 2003 . 12399468 . 10.1074/jbc.M208049200 . free .
• Strausberg RL, Feingold EA, Grouse LH . 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 . 2003 . 12477932 . 139241 . 10.1073/pnas.242603899 . 2002PNAS...9916899M . etal. free .
• Mungall AJ, Palmer SA, Sims SK . The DNA sequence and analysis of human chromosome 6. . Nature . 425 . 6960 . 805–11 . 2003 . 14574404 . 10.1038/nature02055 . etal. free .
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Pihlajamaa T, Lankinen H, Ylöstalo J . 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 . 2004 . 15047691 . 10.1074/jbc.M402865200 . etal. free .
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 528928 . 10.1101/gr.2596504 . etal.

Notes and References

1. Wu JJ, Woods PE, Eyre DR . Identification of cross-linking sites in bovine cartilage type IX collagen reveals an antiparallel type II-type IX molecular relationship and type IX to type IX bonding . J Biol Chem . 267 . 32 . 23007–14 . Dec 1992 . 10.1016/S0021-9258(18)50048-X . 1429648 . free .
2. Web site: Entrez Gene: COL9A1 collagen, type IX, alpha 1.