COL5A1
COL5A1 (collagen type V alpha 1 chain) encodes an alpha chain of type V collagen, a low abundance fibrillar collagen found in connective tissue. The protein is also known as collagen alpha-1(V) chain and helps regulate the assembly of collagen fibres. Browse Assay Genie's current range of COL5A1 research reagents below, or read on for the biology behind the target.
Type V collagen is a member of group I collagen, the fibrillar forming collagens, and is a minor connective tissue component of nearly ubiquitous distribution. 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 fibres composed of both type I and type V collagen. It is also reported to bind DNA, heparan sulfate, thrombospondin, heparin and insulin.
The COL5A1 gene encodes the pro-alpha1(V) chain, which is secreted into the extracellular space and incorporated into the extracellular matrix. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V), so COL5A1 works alongside COL5A2 in assembling type V collagen. Alternative splicing of the gene results in multiple transcript variants. Mouse and rat both carry a Col5a1 ortholog.
The COL5A1 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. HGNC lists the gene in the fibrillar collagens group, and its earlier name was collagen type V alpha 1. Mutations in COL5A1 are associated with Ehlers-Danlos syndrome, types I and II, which makes the protein a frequent subject in connective tissue research.
COL5A1 is a minor but widely distributed connective tissue component, making it relevant to studies of matrix composition and organisation.
Type V collagen appears to regulate the assembly of heterotypic fibres with type I collagen, a central question in fibrillogenesis.
Mutations in COL5A1 are associated with Ehlers-Danlos syndrome types I and II, so the gene is a focus for connective tissue disorder studies.
Its close relationship to type XI collagen supports work comparing tissue-specific chain combinations among fibrillar collagens.
COL5A1 encodes an alpha chain of type V collagen, a low abundance fibrillar collagen. Type V collagen occurs in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibres made of both type I and type V collagen.
The HGNC name is collagen type V alpha 1 chain, and UniProt calls the product collagen alpha-1(V) chain. The procollagen commonly forms the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Alternative splicing produces multiple transcript variants.
Mutations in COL5A1 are associated with Ehlers-Danlos syndrome, types I and II. Orthologs exist in mouse and rat, both named Col5a1, so rodent models can be used to study the gene; check the datasheet of any product for its validated reactivity.
Other collagen chains, including type V partners and the closely related type XI collagens, with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt P20908; product specifications from Assay Genie datasheets.