COL6A5

This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

Description

Collagen type VI alpha 5 chain

Tissue specificity

Group enriched (lung, skin)

Predicted location

Intracellular, Secreted in other tissues

Protein family

Human disease related genes
Predicted intracellular proteins
Predicted secreted proteins

Chromosome

3 (130345516 - 130484844)

Ensembl ID

ENSG00000172752  (ver. 103.38)

Orthologs

Mouse Col6a5: ENSMUSG00000091345

UniProt

 

neXtProt

 

Human splice variants
Mouse splice variants

Protein structure