Contents

Collagen, type VI, alpha 1

Protein found in humans

COL6A1
Identifiers
Aliases	COL6A1, OPLL, BTHLM1, UCHMD1, collagen type VI alpha 1, collagen type VI alpha 1 chain
External IDs	OMIM: 120220; MGI: 88459; HomoloGene: 1391; GeneCards: COL6A1; OMA:COL6A1 - orthologs
Gene location (Human) Chr. Chromosome 21 (human)[1] Band 21q22.3 Start 45,981,770 bp[1] End 46,005,050 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 C1|10 39.71 cM Start 76,544,626 bp[2] End 76,562,002 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium tendon of biceps brachii body of uterus muscle layer of sigmoid colon left uterine tube saphenous vein right ovary canal of the cervix skin of hip left ovary Top expressed in efferent ductule belly cord calvaria internal carotid artery ankle joint uterus ankle cervix left lung lobe vas deferens More reference expression data BioGPS More reference expression data
Gene ontology Molecular function platelet-derived growth factor binding extracellular matrix structural constituent conferring tensile strength Cellular component extracellular matrix extracellular region collagen type VI trimer lysosomal membrane sarcolemma collagen endoplasmic reticulum lumen extracellular exosome membrane extracellular space protein-containing complex collagen-containing extracellular matrix Biological process collagen catabolic process cellular response to amino acid stimulus protein heterotrimerization cell adhesion extracellular matrix organization endodermal cell differentiation osteoblast differentiation growth plate cartilage chondrocyte morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1291 12833 Ensembl ENSG00000142156 ENSMUSG00000001119 UniProt P12109 Q04857 RefSeq (mRNA) NM_001848 NM_009933 RefSeq (protein) NP_001839 NP_034063 Location (UCSC) Chr 21: 45.98 – 46.01 Mb Chr 10: 76.54 – 76.56 Mb PubMed search [3] [4]
Wikidata
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Collagen alpha-1(VI) chain is a protein that in humans is encoded by the COL6A1 gene.^[5]

Function[edit]

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.^[5]

References[edit]

Further reading[edit]

External links[edit]

• GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview

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