NP_000082.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
collagen alpha-3(IV) chain
NCBI Official Synonym Full Names
collagen, type IV, alpha 3 (Goodpasture antigen)
NCBI Protein Information
collagen alpha-3(IV) chain; collagen alpha-3(IV) chain; tumstatin; collagen IV, alpha-3 polypeptide
UniProt Protein Name
Collagen alpha-3(IV) chain
UniProt Synonym Protein Names
Goodpasture antigen
UniProt Entry Name
CO4A3_HUMAN
NCBI Summary for COL4A3
Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010]
UniProt Comments for COL4A3
COL4A3: 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. Autoantibodies against the NC1 domain of alpha 3(IV) are found in Goodpasture syndrome, an autoimmune disease of lung and kidney. Defects in COL4A3 are a cause of Alport syndrome autosomal recessive (APSAR). APSAR is 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. Defects in COL4A3 are a cause of benign familial hematuria (BFH); also known as thin basement membrane nephropathy. BFH is characterized by persistent hematuria, an electron microscopically detectable thin glomerular basement membrane (GBM) and an autosomal dominant mode of inheritance. Renal function remains normal. In children, differentiation between BFH and AS can be difficult, because both disorders are manifested by persistent hematuria and thin GBM at that age. Defects in COL4A3 are a cause of Alport syndrome autosomal dominant (APSAD). Alport syndrome is 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. Belongs to the type IV collagen family. 5 isoforms of the human protein are produced by alternative splicing.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 2q36-q37
Cellular Component: endoplasmic reticulum lumen; collagen type IV; extracellular region; basement membrane
Molecular Function: metalloendopeptidase inhibitor activity; integrin binding; protein binding; extracellular matrix structural constituent; structural molecule activity
Biological Process: caspase activation; extracellular matrix disassembly; cell proliferation; axon guidance; collagen catabolic process; negative regulation of cell proliferation; extracellular matrix organization and biogenesis; negative regulation of angiogenesis; sensory perception of sound; cell surface receptor linked signal transduction; blood circulation; glomerular basement membrane development; cell adhesion
Disease: Hematuria, Benign Familial; Alport Syndrome, Autosomal Dominant; Alport Syndrome, Autosomal Recessive
Research Articles on COL4A3
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Products associated with anti-COL4A3 antibody
Pathways associated with anti-COL4A3 antibody
Diseases associated with anti-COL4A3 antibody
Organs/Tissues associated with anti-COL4A3 antibody
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