Aliases for COL5A1 Gene
External Ids for COL5A1 Gene
Previous GeneCards Identifiers for COL5A1 Gene
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. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
GeneCards Summary for COL5A1 Gene
COL5A1 (Collagen Type V Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL5A1 include Ehlers-Danlos Syndrome, Classic Type and Ehlers-Danlos Syndrome, Type Iv. Among its related pathways are Integrin Pathway and Collagen biosynthesis and modifying enzymes. GO annotations related to this gene include heparin binding and extracellular matrix structural constituent. An important paralog of this gene is COL11A1.
UniProtKB/Swiss-Prot for COL5A1 Gene
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.