COL4A3

COL4A3 (Collagen Type IV Alpha 3 Chain) is a Protein Coding gene. Diseases associated with COL4A3 include Alport Syndrome, Autosomal Dominant and Hematuria, Benign Familial. Among its related pathways are Primary Focal Segmental Glomerulosclerosis FSGS and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include structural molecule activity and extracellular matrix structural constituent. An important paralog of this gene is COL4A5.

Collagen Type IV Alpha 3 Chain

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.

Activation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
Blood circulation Source: ProtInc
Cell adhesion Source: UniProtKB-KW
Cell surface receptor signaling pathway Source: UniProtKB
Collagen-activated tyrosine kinase receptor signaling pathway Source: Ensembl
Collagen fibril organization Source: Reactome
Endothelial cell apoptotic process Source: UniProtKB
Extracellular matrix organization Source: GO_Central
Glomerular basement membrane development Source: UniProtKB
Negative regulation of angiogenesis Source: UniProtKB
Negative regulation of cell population proliferation Source: ProtInc
Negative regulation of vascular endothelial cell proliferation Source: UniProtKB
Response to glucose Source: Ensembl
Sensory perception of sound Source: ProtInc

Basement membrane. Colocalizes with COL4A4 and COL4A5 in GBM, tubular basement membrane (TBM) and synaptic basal lamina (BL).

Autoantibodies against the NC1 domain of alpha 3(IV) are found in Goodpasture syndrome, an autoimmune disease of lung and kidney.
Alport syndrome 2, autosomal recessive (ATS2):
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.
Hematuria, benign familial (BFH):
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.
Alport syndrome 3, autosomal dominant (ATS3):
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.

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
Isoform 2 contains an additional N-linked glycosylation site.
Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding. 12 of these, located in the NC1 domain, are conserved in all known type IV collagens.
The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues.
Phosphorylated. Thought to be phosphorylated by CERT, but CERT does not have kinase activity.