Col5a1 Gene Summary [Mouse]
An extracellular matrix structural constituent. Acts upstream of or within several processes, including circulatory system development; collagen fibril organization; and tendon development. Located in basement membrane. Part of collagen trimer. Is expressed in several structures, including bone; embryo ectoderm; embryo mesenchyme; genitourinary system; and heart. Used to study Ehlers-Danlos syndrome classic type 1. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome and Ehlers-Danlos syndrome classic type 1. Orthologous to human COL5A1 (collagen type V alpha 1 chain). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Col5a1 |
| Official Name | collagen, type V, alpha 1 [Source:MGI Symbol;Acc:MGI:88457] |
| Ensembl ID | ENSMUSG00000026837 |
| Bio databases IDs | |
| Aliases | collagen, type V, alpha 1 |
| Synonyms | AI413331, Collagen type v alpha1, collagen, type V, alpha 1, collagen type V alpha 1 chain, collagen, type V, α 1, collagen type V α 1 chain, EDSC, EDSCL1, FMDMF |
| 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 Col5a1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Fibrillar collagen C-terminal domain
- binding protein
- LamG
- extracellular matrix structural constituent
- Collagen triple helix repeat (20 copies)
- protein binding
- heparin binding
- growth factor binding
Pathways
Biological processes and signaling networks where the Col5a1 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
- neoplasia
- Duchenne muscular dystrophy
- heart disease
- epithelial cancer
- classic Ehlers-Danlos syndrome
- familial thoracic aortic aneurysms and dissections
- androgenic alopecia
- Alström syndrome
- Ehlers-Danlos syndrome
- diabetic nephropathy
role in cell
- growth
- expression in
- differentiation
- migration
- proliferation
- quantity
- number
- adhesion
- cell viability
- formation
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
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- endoplasmic reticulum lumen
- extracellular matrix
- plasma
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Col5a1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell adhesion
- skin development
- heart morphogenesis
- eye morphogenesis
- blood vessel development
- integrin biosynthetic process
- tendon development
- collagen fibril organization
- collagen biosynthetic process
- cell migration
- wound healing, spreading of epidermal cells
- regulation of cellular component organization
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- basement membrane
- extracellular region
- collagen type V
Molecular Function
What the gene product does at the molecular level
- protein binding
- proteoglycan binding
- metal ion binding
- extracellular matrix structural constituent conferring tensile strength
- heparin binding
- integrin binding
- platelet-derived growth factor binding