COL9A3

From Wikipedia, the free encyclopedia

Collagen, type IX, alpha 3

Identifiers

COL9A3; MED; DJ885L7.4.1; EDM3; FLJ90759; IDD

External IDs

OMIM: 120270 MGI: 894686 HomoloGene: 20438

Gene ontology
Molecular Function:	• structural molecule activity
Cellular Component:	• proteinaceous extracellular matrix • collagen type IX • cytoplasm
Biological Process:	• phosphate transport

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

Refseq

NM_001853 (mRNA)
NP_001844 (protein)

NM_009936 (mRNA)
NP_034066 (protein)

Location

Chr 20: 60.92 - 60.94 Mb

Chr 2: 180.53 - 180.55 Mb

Pubmed search

[1]

[2]

Collagen, type IX, alpha 3, also known as COL9A3, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: COL9A3 collagen, type IX, alpha 3.

[edit] 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. 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. PMID 3473493.
Richardson GP, Russell IJ, Duance VC, Bailey AJ (1987). "Polypeptide composition of the mammalian tectorial membrane.". Hear. Res. 25 (1): 45–60. PMID 3542919.
Brewton RG, Wood BM, Ren ZX, et al. (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. PMID 8586434.
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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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.