FUNCTION: SwissProt: P20908 # 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.
SIZE: 1838 amino acids; 183560 Da
SUBUNIT: Trimers of two alpha 1(V) and one alpha 2(V) chains in most tissues and trimers of one alpha 1(V), one alpha 2(V), and one alpha 3(V) chains in placenta. Interacts with CSPG4.
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix (By similarity).
PTM: 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.
DISEASE: SwissProt: P20908 # Defects in COL5A1 are a cause of Ehlers-Danlos syndrome type I (EDS-I) [MIM:130000]; also known as Ehlers-Danlos syndrome gravis. EDS-I is a connective-tissue disorder characterized by loose-jointedness and fragile, velvety, stretchable, bruisable skin that heals with peculiar 'cigarette-paper' scars. Inheritance is autosomal dominant. & Defects in COL5A1 are a cause of Ehlers-Danlos syndrome type II (EDS-II) [MIM:130010]; also known as Ehlers-Danlos syndrome mitis. Inheritance is autosomal dominant.
SIMILARITY: SwissProt: P20908 ## Belongs to the fibrillar collagen family. & Contains 1 laminin G-like domain. & Contains 1 TSP N-terminal (TSPN) domain.