COL5A1

Full Name: Collagen Type V Alpha 1 Chain

Genomic Location: Chromosome 9:134,641,774-134,844,843

Protein Size: 1838 amino acids

Function:

Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin.

This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II.

Linked SNP(s):

  • rs12722 is linked to COL5A1, it is located in the 3’-UTR region.
  • Population frequencies are approximately 55% for the reference allele (C) and 45% for the alternate allele (T).
  • Studies suggest the T allele is associated with a higher risk of tendon injury, while the C allele is associated with increased flexibility.
Did this answer your question?