MGP Database

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MGP000627

UniProt Annotations

Entry Information
Gene Namecollagen, type VI, alpha 3
Protein EntryCO6A3_HUMAN
UniProt IDP12111
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=5; Name=1; IsoId=P12111-1; Sequence=Displayed; Name=2; IsoId=P12111-2; Sequence=VSP_001172; Name=3; IsoId=P12111-3; Sequence=VSP_001172, VSP_043434, VSP_043435, VSP_043436; Note=No experimental confirmation available.; Name=4; IsoId=P12111-4; Sequence=VSP_045718, VSP_045719; Name=5; IsoId=P12111-5; Sequence=VSP_001172, VSP_043435, VSP_043436;
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:10399756, ECO:0000269|PubMed:15689448, ECO:0000269|PubMed:17886299, ECO:0000269|PubMed:9536084}. 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}. 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. {ECO:0000269|PubMed:1689238}.
PtmThe N-terminus is blocked.
SimilarityBelongs to the type VI collagen family. {ECO:0000305}.
SimilarityContains 12 VWFA domains. {ECO:0000255|PROSITE- ProRule:PRU00219}.
SimilarityContains 1 BPTI/Kunitz inhibitor domain. {ECO:0000255|PROSITE-ProRule:PRU00031}.
SimilarityContains 1 fibronectin type-III domain. {ECO:0000255|PROSITE-ProRule:PRU00316}.
SimilarityContains 5 collagen-like domains. {ECO:0000305}.
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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