| COL9A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | COL9A3, DJ885L7.4.1, EDM3, IDD, MED, collagen type IX alpha 3, collagen type IX alpha 3 chain | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 120270 MGI: 894686 HomoloGene: 20438 GeneCards: COL9A3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Collagen alpha-3(IX) chain is a protein that in humans is encoded by the COL9A3 gene.[5][6][7]
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.[7]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000092758 - Ensembl, May 2017
- 1 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".
External links
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.
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