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 NCBI: 12826 Ensembl: ENSMUSG00000031502
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
OrthologiesHumanRat

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.
binds
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
regulated by
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

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.