COL4A3 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | COL4A3 |
| Official Name | collagen type IV alpha 3 chain [Source:HGNC Symbol;Acc:HGNC:2204] |
| Ensembl ID | ENSG00000169031 |
| Bio databases IDs | |
| Aliases | collagen type IV alpha 3 chain, tumstatin |
| Synonyms | [a]3(IV), alpha3(IV), ATS2, ATS3, ATS3A, ATS3B, BFH2, Col IValpha3, Collagen Type IV alpha3, collagen, type IV, alpha 3, collagen type IV alpha 3 chain, COLLAGEN type IV, ISOTYPE 3, Collagen type iv α 3, collagen, type IV, α 3, collagen type IV α 3 chain, Goodpasture antigen, LOC100911572 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human COL4A3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- n-terminal subdomain
- NC1 domain
- goodpasture epitope
- noncollagenous domain
- integrin binding
- RGD motif
- Collagen triple helix repeat (20 copies)
- C-terminal tandem repeated domain in type 4 procollagen
- protein binding
Pathways
Biological processes and signaling networks where the COL4A3 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Huntington disease
- dementia
- neoplasia
- autosomal recessive Alport syndrome
- hereditary disorder
- autosomal recessive Alport syndrome type 3B
- autosomal dominant Alport syndrome
- COL4A3-related disorder
- Peyronie disease
- Dupuytren contracture
role in cell
- proliferation
- apoptosis
- quantity
- migration
- survival
- morphology
- expression in
- phosphorylation in
- chemotaxis
- binding
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- intracellular membrane-bounded organelle
- cell surface
- cell cortex
- Endoplasmic Reticulum
- lipid droplets
- granules
- endoplasmic reticulum lumen
- basement membrane
- glomerular basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human COL4A3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of angiogenesis
- negative regulation of cell proliferation
- blood circulation
- cell surface receptor signaling pathway
- cell adhesion
- collagen-activated tyrosine kinase receptor signaling pathway
- glomerular basement membrane development
- sensory perception of sound
- response to glucose stimulus
- extracellular matrix organization
- endothelial cell apoptotic process
- activation of cysteine-type endopeptidase activity involved in apoptotic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- basement membrane
- extracellular space
- intracellular membrane-bounded organelle
- endoplasmic reticulum
- extracellular region
- collagen type IV
Molecular Function
What the gene product does at the molecular level
- protein binding
- extracellular matrix structural constituent conferring tensile strength
- structural molecule activity
- integrin binding
- metalloendopeptidase inhibitor activity