Human Gene COL6A3 (ENST00000409809.5) Description and Page Index
Description: Collagen VI acts as a cell-binding protein. (from UniProt P12111) RefSeq Summary (NM_057167): 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, that are 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, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]. Gencode Transcript: ENST00000409809.5 Gencode Gene: ENSG00000163359.15 Transcript (Including UTRs) Position: hg38 chr2:237,324,774-237,396,817 Size: 72,044 Total Exon Count: 42 Strand: - Coding Region Position: hg38 chr2:237,324,774-237,396,817 Size: 72,044 Coding Exon Count: 42
ID:CO6A3_HUMAN DESCRIPTION: RecName: Full=Collagen alpha-3(VI) chain; Flags: Precursor; FUNCTION: Collagen VI acts as a cell-binding protein. SUBUNIT: Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI). SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix (By similarity). PTM: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. PTM: The N-terminus is blocked. DISEASE: Defects in COL6A3 are a cause of Bethlem myopathy (BM) [MIM:158810]. BM is a rare autosomal dominant proximal myopathy characterized by early childhood onset (complete penetrance by the age of 5) and joint contractures most frequently affecting the elbows and ankles. DISEASE: Defects in COL6A3 are a cause of Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]; also known as Ullrich scleroatonic muscular dystrophy. UCMD is an autosomal recessive 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. SIMILARITY: Belongs to the type VI collagen family. SIMILARITY: Contains 1 BPTI/Kunitz inhibitor domain. SIMILARITY: Contains 5 collagen-like domains. SIMILARITY: Contains 1 fibronectin type-III domain. SIMILARITY: Contains 12 VWFA domains. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL6A3";
ModBase Predicted Comparative 3D Structure on P12111
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.