COL5A3

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. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008]

Description

Collagen type V alpha 3 chain

Tissue specificity

Low tissue specificity

Subcell location

Plasma membrane

Predicted location

Secreted to extracellular matrix

Protein family

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

Chromosome

19:p13.2 (9959561 - 10010504)

Ensembl ID

ENSG00000080573  (ver. 103.38)

Orthologs

Mouse Col5a3: ENSMUSG00000004098

UniProt

P25940

neXtProt

NX_P25940

Human splice variants
Mouse splice variants