COL5A1
COL5A1 (Collagen Type V Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL5A1 include Ehlers-Danlos Syndrome, Classic Type, 1 and Ehlers-Danlos Syndrome Type 2. Among its related pathways are Integrin Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include heparin binding and extracellular matrix structural constituent. An important paralog of this gene is COL11A1.
Full Name
Collagen Type V Alpha 1 Chain
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.
Biological Process
Blood vessel development Source: Ensembl
Cell adhesion Source: UniProtKB
Cell migration Source: UniProtKB
Collagen biosynthetic process Source: UniProtKB
Collagen fibril organization Source: UniProtKB
Extracellular matrix organization Source: GO_Central
Eye morphogenesis Source: UniProtKB
Heart morphogenesis Source: Ensembl
Integrin biosynthetic process Source: UniProtKB
Negative regulation of endodermal cell differentiation Source: UniProtKB
Regulation of cellular component organization Source: Ensembl
Skin development Source: UniProtKB
Supramolecular fiber organization Source: UniProtKB
Tendon development Source: Ensembl
Wound healing, spreading of epidermal cells Source: UniProtKB
Cellular Location
Extracellular matrix
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.
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.
Loading...
Datasheet