COL5A1

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]

Description

Collagen type V alpha 1 chain

Tissue specificity

Tissue enhanced (cervix)

Subcell location

Vesicles

Predicted location

Intracellular, Secreted to extracellular matrix

Protein family

Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

9 (134641803 - 134844843)

Ensembl ID

ENSG00000130635  (ver. 103.38)

Orthologs

Mouse Col5a1: ENSMUSG00000026837

UniProt

P20908

neXtProt

NX_P20908

Human splice variants
Mouse splice variants

Protein structure