Gene content    
COL4A3 ( by HUGO)
Collagen, Type IV, Alpha 3 (Goodpasture Antigen)
Tumor suppressor gene
Collagen
Type IV
Alpha 3 (Goodpasture Antigen)
tumstatin
Collagen Alpha-3(IV) Chain
Collagen IV
Alpha-3 Polypeptide
Goodpasture Antigen
NCBI: 2q36-q37    Ensembl: 2q36.3
CO4A3_HUMANSize: 1670 amino acidsMass: 161813 Da

  • Subunit: There are six type IV collagen isoforms, alpha 1(IV)-alpha 6(IV), each of which can form a triple helix structure with 2 other chains to generate type IV collagen network. The alpha 3(IV) chain forms a triple helical protomer with alpha 4(IV) and alpha 5(IV); this triple helical structure dimerizes through NC1-NC1 domain interactions such that the alpha 3(IV), alpha 4(IV) and alpha 5(IV) chains of one protomer connect with the alpha 5(IV), alpha 4(IV) and alpha 3(IV) chains of the opposite promoter, respectively. Interacts with COL4A3BP AND ITGB3. Associates with LAMB2 at the neuromuscular junction and in GBM (By similarity) Miscellaneous: The epitopes recognized by the Goodpasture autoantibodies are sequestered within the NC1 hexamer of the type IV collagen network
  • 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
  • Function:
    UniProtKB/Swiss-Prot Summary: CO4A3_HUMAN, Q01955 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 Function: 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
  • Similarity:
    Belongs to the type IV collagen family
                          
    Contains 1 collagen IV NC1 (C-terminal non-collagenous) domain [IMAGE]
  • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR001442Collagen_VI_NCType 4 procollagen, C-terminal repeatRepeat
    IPR008160CollagenCollagen triple helix repeatRepeat
    BlocksIPB001442Type 4 procollagenType 4 procollagen, C-terminal repeat
    IPB008160Collagen triple helix repeatCollagen triple helix repeat

    Gene Ontology    
    Type Term Evidence Source Pub
    Biological Process activation of cysteine-type endopeptidase activity involved in apoptotic process IDA GOA 10766752
    blood circulation TAS GOA 10766752
    cell proliferation IDA GOA 10766752
    cell surface receptor signaling pathway NAS GOA 10766752
    negative regulation of angiogenesis IDA GOA 10766752
    negative regulation of cell proliferation TAS GOA 10837460
    negative regulation of endopeptidase activity NAS GOA 10766752
    sensory perception of sound TAS GOA 7987396
    Cellular Component basement membrane IDA GOA 10766752
    collagen type IV trimer IDA GOA 10766752
    Molecular Function integrin binding TAS GOA 10766752
    integrin binding IDA GOA 12682293
    metalloendopeptidase inhibitor activity NAS GOA 10766752
    protein binding IPI GOA 10212244
    structural molecule activity NAS GOA 3025878

    Disorder & Mutation    
    Source Disease
    SWISS-PROTNote=Autoantibodies against the NC1 domain of alpha 3(IV) are found in Goodpasture syndrome, an autoimmune disease of lung and kidney
    SWISS-PROTAlport 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. Note=The disease is caused by mutations affecting the gene represented in this entry
    SWISS-PROTHematuria, 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. Note=The disease is caused by mutations affecting the gene represented in this entry
    SWISS-PROTAlport 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. Note=The disease is caused by mutations affecting the gene represented in this entry

    COL4A3 cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene