COL6A3
From Wikipedia, the free encyclopedia
Collagen alpha-3(VI) chain is a protein that in humans is encoded by the COL6A3 gene.[1][2][3]
Function
This gene encodes the alpha 3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha 3 chain of type VI collagen is much larger than the alpha 1 and 2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy. In addition to the full length transcript, four transcript variants have been identified that encode proteins with N-terminal globular domains of varying sizes.[3]
References
- ↑ Zanussi S, Doliana R, Segat D, Bonaldo P, Colombatti A (Dec 1992). "The human type VI collagen gene. mRNA and protein variants of the alpha 3 chain generated by alternative splicing of an additional 5-end exon". J Biol Chem 267 (33): 24082–9. PMID 1339440.
- ↑ Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P (May 2002). "Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy". Am J Hum Genet 70 (6): 1446–58. doi:10.1086/340608. PMC 419991. PMID 11992252.
- ↑ 3.0 3.1 "Entrez Gene: COL6A3 collagen, type VI, alpha 3".
Further reading
- Lampe AK, Bushby KM (2006). "Collagen VI related muscle disorders". J. Med. Genet. 42 (9): 673–85. doi:10.1136/jmg.2002.002311. PMC 1736127. PMID 16141002.
- Chu ML, Zhang RZ, Pan TC, et al. (1990). "Mosaic structure of globular domains in the human type VI collagen alpha 3 chain: similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors". EMBO J. 9 (2): 385–93. PMC 551678. PMID 1689238.
- Chu ML, Conway D, Pan TC, et al. (1989). "Amino acid sequence of the triple-helical domain of human collagen type VI". J. Biol. Chem. 263 (35): 18601–6. PMID 3198591.
- Weil D, Mattei MG, Passage E, et al. (1988). "Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen". Am. J. Hum. Genet. 42 (3): 435–45. PMC 1715162. PMID 3348212.
- Chu ML, Mann K, Deutzmann R, et al. (1987). "Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones". Eur. J. Biochem. 168 (2): 309–17. doi:10.1111/j.1432-1033.1987.tb13422.x. PMID 3665927.
- Arnoux B, Mérigeau K, Saludjian P, et al. (1995). "The 1.6 A structure of Kunitz-type domain from the alpha 3 chain of human type VI collagen". J. Mol. Biol. 246 (5): 609–17. doi:10.1016/S0022-2836(05)80110-X. PMID 7533217.
- Pfaff M, Aumailley M, Specks U, et al. (1993). "Integrin and Arg-Gly-Asp dependence of cell adhesion to the native and unfolded triple helix of collagen type VI". Exp. Cell Res. 206 (1): 167–76. doi:10.1006/excr.1993.1134. PMID 8387021.
- Jöbsis GJ, Keizers H, Vreijling JP, et al. (1996). "Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures". Nat. Genet. 14 (1): 113–5. doi:10.1038/ng0996-113. PMID 8782832.
- Zweckstetter M, Czisch M, Mayer U, et al. (1997). "Structure and multiple conformations of the kunitz-type domain from human type VI collagen alpha3(VI) chain in solution". Structure 4 (2): 195–209. doi:10.1016/S0969-2126(96)00022-6. PMID 8805527.
- Myint E, Brown DJ, Ljubimov AV, et al. (1996). "Cleavage of human corneal type VI collagen alpha 3 chain by matrix metalloproteinase-2". Cornea 15 (5): 490–6. doi:10.1097/00003226-199609000-00009. PMID 8862926.
- Sorensen MD, Bjorn S, Norris K, et al. (1997). "Solution structure and backbone dynamics of the human alpha3-chain type VI collagen C-terminal Kunitz domain,". Biochemistry 36 (34): 10439–50. doi:10.1021/bi9705570. PMID 9265624.
- Lamandé SR, Sigalas E, Pan TC, et al. (1998). "The role of the alpha3(VI) chain in collagen VI assembly. Expression of an alpha3(VI) chain lacking N-terminal modules N10-N7 restores collagen VI assembly, secretion, and matrix deposition in an alpha3(VI)-deficient cell line". J. Biol. Chem. 273 (13): 7423–30. doi:10.1074/jbc.273.13.7423. PMID 9516440.
- Klewer SE, Krob SL, Kolker SJ, Kitten GT (1998). "Expression of type VI collagen in the developing mouse heart". Dev. Dyn. 211 (3): 248–55. doi:10.1002/(SICI)1097-0177(199803)211:3<248::AID-AJA6>3.0.CO;2-H. PMID 9520112.
- Pan TC, Zhang RZ, Pericak-Vance MA, et al. (1998). "Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy". Hum. Mol. Genet. 7 (5): 807–12. doi:10.1093/hmg/7.5.807. PMID 9536084.
- Aigner T, Hambach L, Söder S, et al. (2002). "The C5 domain of Col6A3 is cleaved off from the Col6 fibrils immediately after secretion". Biochem. Biophys. Res. Commun. 290 (2): 743–8. doi:10.1006/bbrc.2001.6227. PMID 11785962.
- Mercuri E, Yuva Y, Brown SC, et al. (2002). "Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study". Neurology 58 (9): 1354–9. PMID 12011280.
- Arnoux B, Ducruix A, Prangé T (2003). "Anisotropic behaviour of the C-terminal Kunitz-type domain of the alpha3 chain of human type VI collagen at atomic resolution (0.9 A)". Acta Crystallogr. D Biol. Crystallogr. 58 (Pt 7): 1252–4. doi:10.1107/S0907444902007333. PMID 12077460.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
External links
| ||||||||||||||
| |||||||||||||||||||||||||||
This article is issued from Wikipedia. The text is available under the Creative Commons Attribution/Share Alike; additional terms may apply for the media files.