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MGP000625

UniProt Annotations

Entry Information
Gene Namecollagen, type VI, alpha 1
Protein EntryCO6A1_HUMAN
UniProt IDP12109
SpeciesHuman
Comments
Comment typeDescription
DiseaseBethlem myopathy (BM) [MIM:158810]: A benign autosomal dominant proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. {ECO:0000269|PubMed:11865138, ECO:0000269|PubMed:15689448, ECO:0000269|PubMed:15955946, ECO:0000269|PubMed:8782832}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseUllrich congenital muscular dystrophy (UCMD) [MIM:254090]: UCMD is a congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy. {ECO:0000269|PubMed:15689448, ECO:0000269|PubMed:16130093}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCollagen VI acts as a cell-binding protein.
PtmProlines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
SimilarityBelongs to the type VI collagen family. {ECO:0000305}.
SimilarityContains 3 VWFA domains. {ECO:0000255|PROSITE- ProRule:PRU00219}.
Subcellular LocationSecreted, extracellular space, extracellular matrix {ECO:0000250}.
SubunitTrimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI).
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