InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COL4A4

Summary

InnateDB Protein

IDBP-237093.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

COL4A4

Protein Name

collagen, type IV, alpha 4

Synonyms

CA44;

Species

Homo sapiens

Ensembl Protein

ENSP00000379866

InnateDB Gene

IDBG-82438 (COL4A4)

Protein Structure

UniProt Annotation

Function

Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.

Subcellular Localization

Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000255PROSITE-ProRule:PRU00736}. Note=Colocalizes with COL4A4 and COL4A5 in GBM, tubular basement membrane (TBM) and synaptic basal lamina (BL). {ECO:0000250}.

Disease Associations

Alport syndrome, autosomal recessive (APSAR) [MIM:203780]: A syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness. {ECO:0000269PubMed:7987396, ECO:0000269PubMed:9792860}. Note=The disease is caused by mutations affecting the gene represented in this entry.Hematuria, benign familial (BFH) [MIM:141200]: An autosomal dominant condition characterized by non-progressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane. {ECO:0000269PubMed:11961012, ECO:0000269PubMed:12631110, ECO:0000269PubMed:8787673}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Alpha 3 and alpha 4 type IV collagens are colocalized and present in kidney, eye, basement membranes of lens capsule, cochlea, lung, skeletal muscle, aorta, synaptic fibers, fetal kidney and fetal lung. PubMed:8083201 reports similar levels of expression of alpha 3 and alpha 4 type IV collagens in kidney, but PubMed:7523402 reports that in kidney levels of alpha 3 type IV collagen are significantly lower than those of alpha 4 type IV collagen. Highest levels of expression of alpha 4 type IV collagen are detected in kidney, calvaria, neuroretina and cardiac muscle. Lower levels of expression are observed in brain, lung and thymus, and no expression is detected in choroid plexus, liver, adrenal, pancreas, ileum or skin. {ECO:0000269PubMed:7523402, ECO:0000269PubMed:8083201}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005201	extracellular matrix structural constituent

Biological Process

GO:0007411	axon guidance
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030574	collagen catabolic process
GO:0032836	glomerular basement membrane development

Cellular Component

GO:0005576	extracellular region
GO:0005581	collagen trimer
GO:0005587	collagen type IV trimer
GO:0005604	basement membrane
GO:0005605	basal lamina
GO:0005788	endoplasmic reticulum lumen