COL4A3

GENE INFORMATION

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Gene name

COL4A3

Synonyms

Description

Collagen, type IV, alpha 3 (Goodpasture antigen) (HGNC Symbol)

Entrez gene summary

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]

Chromosome

2

Cytoband

q36.3

Chromosome location (bp)

227164565 - 227314792

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000169031 (version 78.38)

Entrez gene

1285

UniProt

Q01955 (UniProt - Evidence at protein level)

neXtProt

NX_Q01955

Antibodypedia

COL4A3 antibodies
 

PROTEIN VIEW

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COL4A3-001
 
COL4A3-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

COL4A3-001 ENSP00000379823
ENST00000396578
Q01955
Show all »
Show » Show » 1670 161.8 Yes 0
COL4A3-004 ENSP00000302781
ENST00000304990
H7BXM4
Show all »
Show » 156 14.7 No 0