COL6A1
Identifiers
AliasesCOL6A1, OPLL, BTHLM1, UCHMD1, collagen type VI alpha 1, collagen type VI alpha 1 chain
External IDsOMIM: 120220 MGI: 88459 HomoloGene: 1391 GeneCards: COL6A1
Orthologs
SpeciesHumanMouse
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 MbChr 10: 76.54 – 76.56 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

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

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000142156 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000001119 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: COL6A1 collagen, type VI, alpha 1".

Further reading


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