COL6A1

Collagen, type VI, alpha 1
Identifiers
Symbols	COL6A1 ; OPLL
External IDs	Template:OMIM5 Template:MGI HomoloGene: 1391
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process 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 1, also known as COL6A1, is a human gene.

The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy.

Further reading

• Bertini E, Pepe G (2002). "Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy". Eur. J. Paediatr. Neurol. 6 (4): 193–8. PMID 12374585.
• 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.
• Bidanset DJ, Guidry C, Rosenberg LC; et al. (1992). "Binding of the proteoglycan decorin to collagen type VI". J. Biol. Chem. 267 (8): 5250–6. PMID 1544908.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Saitta B, Wang YM, Renkart L; et al. (1992). "The exon organization of the triple-helical coding regions of the human alpha 1(VI) and alpha 2(VI) collagen genes is highly similar". Genomics. 11 (1): 145–53. PMID 1765372.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chu ML, Pan TC, Conway D; et al. (1989). "Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy terminus". EMBO J. 8 (7): 1939–46. PMID 2551668.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)
• Jander R, Rauterberg J, Glanville RW (1983). "Further characterization of the three polypeptide chains of bovine and human short-chain collagen (intima collagen)". Eur. J. Biochem. 133 (1): 39–46. PMID 6852033.CS1 maint: Multiple names: authors list (link)
• Tillet E, Wiedemann H, Golbik R; et al. (1994). "Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI". Eur. J. Biochem. 221 (1): 177–85. PMID 8168508.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Saitta B, Chu ML (1996). "Characterization of the human alpha 1(VI) collagen promoter and its comparison with human alpha 2(VI) promoters". Eur. J. Biochem. 234 (2): 542–9. PMID 8536701.
• Jobsis GJ, Bolhuis PA, Boers JM; et al. (1996). "Genetic localization of Bethlem myopathy". Neurology. 46 (3): 779–82. PMID 8618682.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)
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.CS1 maint: Multiple names: authors list (link)
• Trikka D, Davis T, Lapenta V; et al. (1997). "Human COL6A1: genomic characterization of the globular domains, structural and evolutionary comparison with COL6A2". Mamm. Genome. 8 (5): 342–5. PMID 9107679.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kuo HJ, Maslen CL, Keene DR, Glanville RW (1997). "Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen". J. Biol. Chem. 272 (42): 26522–9. PMID 9334230.CS1 maint: Multiple names: authors list (link)
• Sasaki T, Brakebusch C, Engel J, Timpl R (1998). "Mac-2 binding protein is a cell-adhesive protein of the extracellular matrix which self-assembles into ring-like structures and binds beta1 integrins, collagens and fibronectin". EMBO J. 17 (6): 1606–13. doi:10.1093/emboj/17.6.1606. PMID 9501082.CS1 maint: Multiple names: authors list (link)
• Lamandé SR, Bateman JF, Hutchison W; et al. (1998). "Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency". Hum. Mol. Genet. 7 (6): 981–9. PMID 9580662.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pepe G, Giusti B, Bertini E; et al. (1999). "A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy". Biochem. Biophys. Res. Commun. 258 (3): 802–7. doi:10.1006/bbrc.1999.0680. PMID 10329467.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Merlini L, Villanova M, Sabatelli P; et al. (1999). "Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy". Neuromuscul. Disord. 9 (5): 326–9. PMID 10407855.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)