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COL5A1

Domain

The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).

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.

Involvement in disease

Ehlers-Danlos syndrome, classic type, 1

EDSCL1

A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are joint hypermobility and dislocation, and fragile, bruisable skin. EDSCL1 inheritance is autosomal dominant.

None

The disease is caused by variants affecting the gene represented in this entry.

Fibromuscular dysplasia, multifocal

FMDMF

An autosomal dominant vascular disorder with incomplete penetrance, characterized by fibrous tissue and webs developing in the artery wall and leading to multiple arterial stenoses. Patients with multifocal fibromuscular dysplasia can develop arterial tortuosity, macroaneurysms, and dissections. Arterial rupture may occur.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.

Sulfated on 40% of tyrosines.

Sequence Similarities

Belongs to the fibrillar collagen family.

Cellular localization

Alternative names

Collagen alpha-1(V) chain, COL5A1

swissprot:P20908 entrezGene:50509 omim:120190 omim:120215 omim:120216 swissprot:P05997 swissprot:P25940 swissprot:Q15094 swissprot:Q53WR4 swissprot:Q5PR22 swissprot:Q5SY11 swissprot:Q86XF6 entrezGene:1289 entrezGene:1290