COL9A3
| Collagen, type IX, alpha 3 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | COL9A3 ; DJ885L7.4.1; EDM3; IDD; MED | ||||||||||||
| External IDs | OMIM: 120270 MGI: 894686 HomoloGene: 20438 GeneCards: COL9A3 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 1299 | 12841 | |||||||||||
| Ensembl | ENSG00000092758 | ENSMUSG00000027570 | |||||||||||
| UniProt | Q14050 | A2ACT7 | |||||||||||
| RefSeq (mRNA) | NM_001853 | NM_009936 | |||||||||||
| RefSeq (protein) | NP_001844 | NP_034066 | |||||||||||
| Location (UCSC) |
Chr 20: 62.82 – 62.84 Mb |
Chr 2: 180.6 – 180.62 Mb | |||||||||||
| PubMed search | |||||||||||||
Collagen alpha-3(IX) chain is a protein that in humans is encoded by the COL9A3 gene.[1][2][3]
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.[3]
References
- ↑ 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. 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. 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. 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.
- 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): 209–16. 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. 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. 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. 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. doi:10.1038/nature04209. PMID 16189514.
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