COL4A5

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]

Description

Collagen type IV alpha 5 chain

Tissue specificity

Tissue enhanced (brain)

Subcell location

Vesicles, Plasma membrane

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
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (108439838 - 108697545)

Ensembl ID

ENSG00000188153  (ver. 103.38)

Orthologs

Mouse Col4a5: ENSMUSG00000031274

UniProt

P29400

neXtProt

NX_P29400

Human splice variants
Mouse splice variants

Protein structure