| 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. |
| 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. |
| Involvement in Disease: |
Alport syndrome, autosomal recessive: 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: 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, autosomal dominant: 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. |
| Sequence Similarities: |
Belongs to the type IV collagen family. |
| Post-Translational Modification: |
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. |
| Cellular Location: |
Secreted > Extracellular space > Extracellular matrix > Basement membrane.
Colocalizes with COL4A4 and COL4A5 in GBM, tubular basement membrane (TBM) and synaptic basal lamina (BL). |
| Database Links: |
Entrez Gene: 1285?HumanOmim: 120070?HumanSwissProt: Q01955?HumanUnigene: 570065?Human |
| Synonyms: |
Alpha 3 type IV collagen AntibodyAlpha3 type IV collagen AntibodyCO4A3_HUMAN AntibodyCOL4A 3 AntibodyCOL4A3 AntibodyCollagen alpha 3(IV) chain AntibodyCollagen IV alpha 3 polypeptide AntibodyCollagen type IV alpha 3 AntibodyCollagen type IV alpha 3 (Goodpasture antigen) AntibodyCollagen type IV alpha 3 chain AntibodyGoodpasture antigen AntibodyOTTHUMP00000195044 AntibodyTumstatin Antibody |
| Information: |
Target information shown above is from the UniProt Consortium. |
