Col7a1 Gene Summary [Mouse]
Enables identical protein binding activity. Predicted to be involved in extracellular matrix organization. Located in basement membrane. Is expressed in several structures, including basement membrane; glomerular basement membrane of mature renal corpuscle; palatal shelf; pigmented retinal epithelium; and skin. Used to study recessive dystrophic epidermolysis bullosa. Human ortholog(s) of this gene implicated in epidermolysis bullosa dystrophica (multiple) and nonsyndromic congenital nail disorder 8. Orthologous to human COL7A1 (collagen type VII alpha 1 chain). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Col7a1 |
| Official Name | collagen, type VII, alpha 1 [Source:MGI Symbol;Acc:MGI:88462] |
| Ensembl ID | ENSMUSG00000025650 |
| Bio databases IDs | |
| Aliases | collagen, type VII, alpha 1 |
| Synonyms | Collagen type 7 alpha chain, Collagen type 7 α chain, collagen, type VII, alpha 1, collagen type VII alpha 1 chain, collagen, type VII, α 1, collagen type VII α 1 chain, EBA Antigen, EBD1, EBDCT, EBR1, NDNC8 |
| 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 Col7a1 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
- Kunitz/Bovine pancreatic trypsin inhibitor (BPTI) domain
- von Willebrand factor (vWF) type A domain
- FN3
- vWFA
- Purple acid Phosphatase, N-terminal domain
- Collagen triple helix repeat (20 copies)
- von Willebrand factor type A domain
- protein binding
- Fibronectin type 3 domain
- identical protein binding
Pathways
Biological processes and signaling networks where the Col7a1 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
- cancer
- colorectal cancer
- abdominal cancer
- digestive system cancer
- recessive dystrophic epidermolysis bullosa Hallopeau-Siemens
- cellulite of the buttocks
- dystrophic epidermolysis bullosa
- autosomal recessive epidermolysis bullosa dystrophica inversa
- generalized dominant dystrophic epidermolysis bullosa
role in cell
- migration
- invasion by
- invasion
- colonization by
- adhesion
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
- extracellular vesicles
- cellular membrane
- endoplasmic reticulum lumen
- transport vesicles
- extracellular matrix
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Col7a1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- endodermal cell differentiation
- epidermis development
- extracellular matrix organization
- cell adhesion
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- basement membrane
- extracellular space
- collagen type VII
- ER to Golgi transport vesicle
- extracellular region
- endoplasmic reticulum-Golgi intermediate compartment membrane
Molecular Function
What the gene product does at the molecular level
- serine-type endopeptidase inhibitor activity
- protein binding
- extracellular matrix structural constituent conferring tensile strength