Collagen, type VI, alpha 1

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COL6A1
Identifiers
AliasesCOL6A1, OPLL, BTHLM1, UCHMD1, collagen type VI alpha 1, collagen type VI alpha 1 chain
External IDsMGI: 88459 HomoloGene: 1391 GeneCards: COL6A1
Gene location (Human)
Chromosome 21 (human)
Chr.Chromosome 21 (human)[1]
Chromosome 21 (human)
Genomic location for COL6A1
Genomic location for COL6A1
Band21q22.3Start45,981,737 bp[1]
End46,005,050 bp[1]
RNA expression pattern
PBB GE COL6A1 212091 s at fs.png

PBB GE COL6A1 212937 s at fs.png

PBB GE COL6A1 212938 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001848

NM_009933

RefSeq (protein)

NP_001839

NP_034063

Location (UCSC)Chr 21: 45.98 – 46.01 MbChr 10: 76.71 – 76.73 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]