Col4a1 Gene Summary [Mouse]
This gene encodes the alpha-1 subunit of the type IV collagens, an essential component of basement membranes. The encoded protein forms a triple helical heterotrimer comprised of two alpha-1 and one alpha-2 subunits that assembles into a type IV collagen network. This gene is located adjacent to the gene encoding alpha-2 subunit. Mice lacking both the alpha-1 and alpha-2 subunits of collagen IV die in utero due to structural deficiencies in the basement membranes and certain mutations in this gene cause perinatal cerebral hemorrhage and porencephaly. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2015]
Details
| Type | Protein Coding |
| Official Symbol | Col4a1 |
| Official Name | collagen, type IV, alpha 1 [Source:MGI Symbol;Acc:MGI:88454] |
| Ensembl ID | ENSMUSG00000031502 |
| Bio databases IDs | |
| Aliases | collagen, type IV, alpha 1 |
| Synonyms | BRU, BSVD, BSVD1, Col4alpha, Col4α, Col IV, Collagen type iv alpha1, collagen, type IV, alpha 1, collagen type IV alpha 1 chain, collagen, type IV, α 1, collagen type IV α 1 chain, PADMAL, procollagen type 4 alpha 1, procollagen type 4 α 1, RATOR, RAW, SVC, Type iv collagen alpha1 subunit |
| Species | Mouse, Mus musculus |
| 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 mouse Col4a1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular matrix structural constituent conferring tensile strength
- NC1 domain
- extracellular matrix structural constituent
- Collagen triple helix repeat (20 copies)
- C-terminal tandem repeated domain in type 4 procollagen
- protein binding
- growth factor binding
Pathways
Biological processes and signaling networks where the Col4a1 gene in mouse 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
- colorectal cancer
- cardiovascular disorder
- neoplasia
- hereditary angiopathy with nephropathy, aneurysms, and muscle cramps
- porencephaly type 1
- experimentally-induced diabetes
- hereditary disorder
- coronary artery disease
- pontine autosomal dominant microangiopathy with leukoencephalopathy
- peripheral arterial disease
phenotypes
- abnormal Reichert's membrane morphology
- abnormal basement membrane morphology
- abnormal blood vessel morphology
- abnormal brain morphology
- abnormal brain pia mater morphology
- abnormal cerebral cortex morphology
- abnormal cornea morphology
- abnormal eye morphology
- abnormal glomerular capsule parietal layer morphology
- abnormal glomerular mesangium morphology
- abnormal hippocampus morphology
- abnormal iris morphology
- abnormal kidney collecting duct epithelium morphology
- abnormal kidney collecting duct morphology
- abnormal kidney morphology
- abnormal kidney papilla morphology
- abnormal kidney physiology
- abnormal lens capsule morphology
- abnormal lens morphology
- abnormal parietal endoderm morphology
- abnormal podocyte foot process morphology
- abnormal podocyte morphology
- abnormal podocyte slit diaphragm morphology
- abnormal proximal convoluted tubule morphology
- abnormal renal glomerular capsule morphology
- abnormal renal glomerulus basement membrane morphology
- abnormal renal glomerulus morphology
- abnormal retina inner limiting membrane morphology
- abnormal retina morphology
- abnormal retinal blood vessel pattern
- abnormal retinal ganglion cell morphology
- abnormal retinal neuronal layer morphology
- abnormal retinal vasculature morphology
- abnormal urine albumin level
- albuminuria
- anemia
- anterior iris synechia
- anterior polar cataracts
- anterior subcapsular cataracts
- astrocytosis
- bruising
- buphthalmos
- cataract
- corneal opacity
- corneal vascularization
- cyanosis
- decreased body size
- decreased body weight
- decreased collagen level
- decreased erythrocyte cell number
- decreased grip strength
- decreased hematocrit
- decreased hemoglobin content
- decreased urine osmolality
- delaminated cerebral cortex
- delayed kidney development
- dilated glomerular capillary
- dilated kidney collecting duct
- dilated proximal convoluted tubules
- dystrophic muscle
- embryonic lethality complete penetrance
- enlarged brain ventricles
- erythrocyturia
- eye hemorrhage
- hematuria
- increased blood urea nitrogen level
- increased circulating creatine kinase level
- increased glomerular capsule space
- increased urine microalbumin level
- infertility
- intracerebral hemorrhage
- intracranial hemorrhage
- irregularly shaped pupil
- kidney inflammation
- lethality throughout fetal growth and development complete penetrance
- microphthalmia
- myopathy
- optic nerve hypoplasia
- parietal capsular epithelium metaplasia
- perinatal lethality incomplete penetrance
- podocyte foot process effacement
- polyuria
- postnatal lethality incomplete penetrance
- premature death
- prenatal lethality complete penetrance
- prenatal lethality incomplete penetrance
- reduced fertility
- renal cast
- renal glomerulus cysts
- respiratory distress
- seizures
- subarachnoid hemorrhage
- sutural cataracts
- total cataracts
- vacuolated lens
- vitreal fibroplasia
- weakness
role in cell
- expression in
- migration
- transmigration
- organization
- anoikis
- development
- phosphorylation in
- retention in
- transdifferentiation
- retention
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
- endoplasmic reticulum lumen
- extracellular matrix
- exosomes
- plasma
- basement membrane
- glomerular basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Col4a1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- epithelial cell differentiation
- neuromuscular junction development
- cellular response to amino acid stimulus
- renal tubule morphogenesis
- patterning of blood vessels
- extracellular matrix organization
- basement membrane organization
- blood vessel morphogenesis
- collagen-activated tyrosine kinase receptor signaling pathway
- brain development
- retinal blood vessel morphogenesis
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- basement membrane
- 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
- extracellular matrix structural constituent
- platelet-derived growth factor binding