Human Gene COL6A1 (ENST00000361866.8) from GENCODE V44
Description: Homo sapiens collagen type VI alpha 1 chain (COL6A1), mRNA. (from RefSeq NM_001848) RefSeq Summary (NM_001848): 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. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000361866.8 Gencode Gene: ENSG00000142156.16 Transcript (Including UTRs) Position: hg38 chr21:45,981,770-46,005,048 Size: 23,279 Total Exon Count: 35 Strand: + Coding Region Position: hg38 chr21:45,981,851-46,004,013 Size: 22,163 Coding Exon Count: 35
ID:CO6A1_HUMAN DESCRIPTION: RecName: Full=Collagen alpha-1(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. DISEASE: Defects in COL6A1 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 COL6A1 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 3 VWFA domains. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL6A1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01391 - Collagen triple helix repeat (20 copies) PF00092 - von Willebrand factor type A domain
ModBase Predicted Comparative 3D Structure on P12109
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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.