Collagen Type VI Alpha 1 (COL6a1)

COL6-A1; OPLL; Collagen Alpha-1(VI)chain

SPN	U694
HGNC	2211
MGI	88459
PubMed	22012643
RGD	1565398
UniProt	P12109
Wiki	COL6A1

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.Defects in COL6A1 are a cause of Bethlem myopathy (BM).

Reference

"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. 8:1939-1946(1989) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI."
Eur. J. Biochem. 221:177-185(1994) [PubMed] [Europe PMC] [Abstract]

"Human COL6A1: genomic characterization of the globular domains, structural and evolutionary comparison with COL6A2."
Mamm. Genome 8:342-345(1997) [PubMed] [Europe PMC] [Abstract]

"Further characterization of the three polypeptide chains of bovine and human short-chain collagen (intima collagen)."
Eur. J. Biochem. 133:39-46(1983) [PubMed] [Europe PMC] [Abstract]

"Amino acid sequence of the triple-helical domain of human collagen type VI."
J. Biol. Chem. 263:18601-18606(1988) [PubMed] [Europe PMC] [Abstract]

"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 11:145-153(1991) [PubMed] [Europe PMC] [Abstract]

"Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones."
Eur. J. Biochem. 168:309-317(1987) [PubMed] [Europe PMC] [Abstract]

"Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen."
Am. J. Hum. Genet. 42:435-445(1988) [PubMed] [Europe PMC] [Abstract]