Col17a1 Gene Summary [Mouse]
Predicted to be an extracellular matrix structural constituent conferring tensile strength. Predicted to be involved in extracellular matrix organization and hemidesmosome assembly. Located in hemidesmosome. Is expressed in several structures, including alimentary system; genitourinary system; larynx; sensory organ; and skin. Used to study bullous pemphigoid; junctional epidermolysis bullosa; and junctional epidermolysis bullosa non-Herlitz type. Human ortholog(s) of this gene implicated in epithelial recurrent erosion dystrophy and junctional epidermolysis bullosa. Orthologous to human COL17A1 (collagen type XVII alpha 1 chain). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Col17a1 |
| Official Name | collagen, type XVII, alpha 1 [Source:MGI Symbol;Acc:MGI:88450] |
| Ensembl ID | ENSMUSG00000025064 |
| Bio databases IDs | |
| Aliases | collagen, type XVII, alpha 1 |
| Synonyms | BA16H23.2, BP180, BPA-2, Bpag, BPAG2, COL17, collagen, type XVII, alpha 1, collagen type XVII alpha 1 chain, collagen, type XVII, α 1, collagen type XVII α 1 chain, EBR2A, ERED, JEB4, LAD-1 |
| 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 Col17a1 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 domain
- cytoplasmic domain
- ectodomain
- Collagen triple helix repeat (20 copies)
- protein binding
Pathways
Biological processes and signaling networks where the Col17a1 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
- intermediate junctional epidermolysis bullosa-4
- breast cancer
- intermediate junctional epidermolysis bullosa type 1A
- tuberculosis
- premature graying
- epithelial recurrent erosion dystrophy
- amelogenesis imperfecta type IA
- hereditary disorder
- junctional epidermolysis bullosa
role in cell
- migration
- cell viability
- production in
- proliferation
- number
- recruitment
- quantity
- degranulation
- directional motility
- stability
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
- cell-substratum contacts
- cell surface
- cellular membrane
- Plasma Membrane
- intercellular junctions
- hemidesmosomes
- cell-cell contacts
- endoplasmic reticulum lumen
- basement membrane
- glomerular basement membrane
- endothelial basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Col17a1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell-matrix adhesion
- hemidesmosome assembly
- extracellular matrix organization
- epidermis development
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- basement membrane
- extracellular space
- cell-cell junction
- collagen
- hemidesmosome
- extracellular region
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- extracellular matrix structural constituent conferring tensile strength
- heparin binding