InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COL4A3

Summary

InnateDB Protein

IDBP-237123.5

Last Modified

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

Gene Symbol

COL4A3

Protein Name

collagen, type IV, alpha 3 (Goodpasture antigen)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000379823

InnateDB Gene

IDBG-82471 (COL4A3)

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.Tumstatin, a cleavage fragment corresponding to the collagen alpha 3(IV) NC1 domain, possesses both anti-angiogenic and anti-tumor cell activity; these two anti-tumor properties may be regulated via RGD-independent ITGB3-mediated mechanisms.

Subcellular Localization

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

Disease Associations

Note=Autoantibodies against the NC1 domain of alpha 3(IV) are found in Goodpasture syndrome, an autoimmune disease of lung and kidney.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:11134255, ECO:0000269PubMed:15954103}. 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.Alport syndrome, autosomal dominant (APSAD) [MIM:104200]: 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:11044206, ECO:0000269PubMed:11134255}. 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. According to PubMed:8083201, alpha 3 type IV collagen is not detected in heart, brain, placenta, liver, pancreas, extrasynaptic muscle fibers, endoneurial and perineurial nerves, fetal brain, fetal heart and fetal liver. According to PubMed:7523402, alpha 3 type IV collagen is strongly expressed in pancreas, neuroretina and calvaria and not expressed in adrenal, ileum and skin. Isoform 1 and isoform 3 are strongly expressed in kidney, lung, suprarenal capsule, muscle and spleen, in each of these tissues isoform 1 is more abundant than isoform 3. Isoform 1 and isoform 3 are expressed at low levels in artery, fat, pericardium and peripherical nerve, but not in placenta, mesangium, skin, pleura and cultured umbilical endothelial cells. {ECO:0000269PubMed:7523402, ECO:0000269PubMed:8083201, ECO:0000269PubMed:8505332}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005178	integrin binding
GO:0005198	structural molecule activity
GO:0005201	extracellular matrix structural constituent
GO:0005515	protein binding
GO:0008191	metalloendopeptidase inhibitor activity

Biological Process

GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0007155	cell adhesion
GO:0007166	cell surface receptor signaling pathway
GO:0007411	axon guidance
GO:0007605	sensory perception of sound
GO:0008015	blood circulation
GO:0008283	cell proliferation
GO:0008285	negative regulation of cell proliferation
GO:0009749	response to glucose
GO:0010951	negative regulation of endopeptidase activity
GO:0016525	negative regulation of angiogenesis
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030574	collagen catabolic process
GO:0032836	glomerular basement membrane development
GO:0072577	endothelial cell apoptotic process

Cellular Component

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