COL6A3

Collagen, type VI, alpha 3
PDB rendering based on 1knt.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1knt​, 1kth​, 1kun​, 2knt​
Identifiers
Symbols	COL6A3 ; DKFZp686D23123; DKFZp686K04147; FLJ34702
External IDs	Template:OMIM5 Template:MGI HomoloGene: 37917
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Collagen, type VI, alpha 3, also known as COL6A3, is a human gene.

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.

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. PMID 16141002.
• Zanussi S, Doliana R, Segat D; et al. (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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 1689238.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 3348212.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 3665927.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 7533217.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 8805527.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 8862926.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 9516440.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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. PMID 9536084.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Demir E, Sabatelli P, Allamand V; et al. (2002). "Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy". Am. J. Hum. Genet. 70 (6): 1446–58. PMID 11992252.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 12077460.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)