Homo sapiens Gene: COL4A3
Summary
InnateDB Gene IDBG-82471.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL4A3
Gene Name collagen, type IV, alpha 3 (Goodpasture antigen)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000169031
Encoded Proteins
collagen, type IV, alpha 3 (Goodpasture antigen)
collagen, type IV, alpha 3 (Goodpasture antigen)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:227164565-227314792
Strand Forward strand
Band q36.3
Transcripts
ENST00000304990 ENSP00000302781
ENST00000396578 ENSP00000379823
ENST00000487633
ENST00000468753
ENST00000471862
ENST00000469504
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005178 integrin binding
GO:0005198 structural molecule activity
GO:0005201 extracellular matrix structural constituent
GO:0005515 protein binding
GO:0008191 metalloendopeptidase inhibitor activity
Biological Process
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0007155 cell adhesion
GO:0007166 cell surface receptor signaling pathway
GO:0007411 axon guidance
GO:0007605 sensory perception of sound
GO:0008015 blood circulation
GO:0008283 cell proliferation
GO:0008285 negative regulation of cell proliferation
GO:0009749 response to glucose
GO:0010951 negative regulation of endopeptidase activity
GO:0016525 negative regulation of angiogenesis
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
GO:0030574 collagen catabolic process
GO:0032836 glomerular basement membrane development
GO:0072577 endothelial cell apoptotic process
Cellular Component
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005587 collagen type IV trimer
GO:0005604 basement membrane
GO:0005788 endoplasmic reticulum lumen
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Developmental Biology pathway
Collagen biosynthesis and modifying enzymes pathway
Extracellular matrix organization pathway
NCAM signaling for neurite out-growth pathway
Degradation of the extracellular matrix pathway
NCAM1 interactions pathway
Axon guidance pathway
Signal Transduction pathway
Integrin cell surface interactions pathway
ECM proteoglycans pathway
Non-integrin membrane-ECM interactions pathway
Laminin interactions pathway
Assembly of collagen fibrils and other multimeric structures pathway
Collagen degradation pathway
Signaling by PDGF pathway
Collagen formation pathway
Anchoring fibril formation pathway
KEGG
Focal adhesion pathway
ECM-receptor interaction pathway
Protein digestion and absorption pathway
Amoebiasis pathway
Pathways in cancer pathway
Small cell lung cancer pathway
INOH
Integrin signaling pathway pathway
PID BIOCARTA
Platelet amyloid precursor protein pathway [Biocarta view]
Regulators of bone mineralization [Biocarta view]
Intrinsic prothrombin activation pathway [Biocarta view]
PID NCI
Integrins in angiogenesis
Beta3 integrin cell surface interactions
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.570065
RefSeq NM_000091 XM_005246279 XM_005246280 XM_006712244 XM_006712245
HUGO
OMIM
CCDS CCDS42829
HPRD 00354
IMGT
EMBL
GenPept
RNA Seq Atlas