Collagen, type IX, alpha 3
Protein found in humans
COL9A3 Identifiers Aliases COL9A3 External IDs OMIM : 120270 ; MGI : 894686 ; GeneCards : COL9A3 Gene location (Mouse ) Chr. Chromosome 2 (mouse) Band 2 H4| 2 103.14 cM Start 180,239,583 bp End 180,263,982 bp
Wikidata
Collagen alpha-3(IX) chain is a protein that in humans is encoded by the COL9A3 gene .
Function
This gene encodes one of the three alpha chains of type IX collagen , the major collagen component of hyaline cartilage . Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia .
References
1 2 3 GRCh38: Ensembl release 89: ENSG00000092758 – Ensembl , May 20171 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027570 – Ensembl , May 2017↑ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .↑ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .↑ Brewton RG, Wood BM, Ren ZX, Gong Y, Tiller GE, Warman ML, Lee B, Horton WA, Olsen BR, Baker JR, et al. (Mar 1996). "Molecular cloning of the alpha 3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3". Genomics . 30 (2): 329– 36. doi :10.1006/geno.1995.9870 . PMID 8586434 . ↑ Wu JJ, Woods PE, Eyre DR (Dec 1992). "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. doi :10.1016/S0021-9258(18)50048-X PMID 1429648 . 1 2 "Entrez Gene: COL9A3 collagen, type IX, alpha 3" .
Further reading
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. doi :10.1002/j.1460-2075.1987.tb02590.x . PMC 553721 PMID 2446864 . 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. Bibcode :1987PNAS...84.4044M . doi :10.1073/pnas.84.12.4044 PMC 305018 PMID 3473493 . Richardson GP, Russell IJ, Duance VC, Bailey AJ (1987). "Polypeptide composition of the mammalian tectorial membrane". Hear. Res . 25 (1): 45– 60. doi :10.1016/0378-5955(87)90078-5 . PMID 3542919 . S2CID 42559806 . Perälä M, Savontaus M, Metsäranta M, Vuorio E (1997). "Developmental regulation of mRNA species for types II, IX and XI collagens during mouse embryogenesis" . Biochem. J . 324. ( Pt 1) (Pt 1): 209– 16. doi :10.1042/bj3240209 . PMC 1218418 PMID 9164858 . Paassilta P, Lohiniva J, Annunen S, et al. (2000). "COL9A3: A third locus for multiple epiphyseal dysplasia" . Am. J. Hum. Genet . 64 (4): 1036– 44. doi :10.1086/302328 . PMC 1377827 PMID 10090888 . Paassilta P, Pihlajamaa T, Annunen S, et al. (1999). "Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variants" . J. Biol. Chem . 274 (32): 22469– 75. doi :10.1074/jbc.274.32.22469 PMID 10428822 . Bönnemann CG, Cox GF, Shapiro F, et al. (2000). "A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy" . Proc. Natl. Acad. Sci. U.S.A . 97 (3): 1212– 7. Bibcode :2000PNAS...97.1212B . doi :10.1073/pnas.97.3.1212 PMC 15572 PMID 10655510 . Lohiniva J, Paassilta P, Seppänen U, et al. (2000). "Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia". Am. J. Med. Genet . 90 (3): 216– 22. doi :10.1002/(SICI)1096-8628(20000131)90:3< 216::AID-AJMG6> 3.0.CO; 2-1 . PMID 10678658 . 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. doi :10.1001/jama.285.14.1843 PMID 11308397 . 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. doi :10.1086/324023 . PMC 1274373 PMID 11565064 . Fertala A, Sieron AL, Adachi E, Jimenez SA (2002). "Collagen II containing a Cys substitution for Arg-alpha1-519: abnormal interactions of the mutated molecules with collagen IX". Biochemistry . 40 (48): 14422– 8. doi :10.1021/bi0109109 . PMID 11724554 . Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20" . Nature . 414 (6866): 865– 71. Bibcode :2001Natur.414..865D . doi :10.1038/414865a PMID 11780052 . 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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Matsui Y, Wu JJ, Weis MA, et al. (2004). "Matrix deposition of tryptophan-containing allelic variants of type IX collagen in developing human cartilage". Matrix Biol . 22 (2): 123– 9. doi :10.1016/S0945-053X(02)00102-6 . PMID 12782139 . 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 . PMC 528928 PMID 15489334 . Asamura K, Abe S, Fukuoka H, et al. (2005). "Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients". Auris Nasus Larynx . 32 (2): 113– 7. doi :10.1016/j.anl.2005.01.011 . PMID 15917166 . Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature . 437 (7062): 1173– 8. Bibcode :2005Natur.437.1173R . doi :10.1038/nature04209 . PMID 16189514 . S2CID 4427026 .
