Col13a1 Gene Summary [Mouse]
Predicted to enable heparin binding activity. Predicted to be an extracellular matrix structural constituent conferring tensile strength. Involved in endochondral ossification and morphogenesis of a branching structure. Located in cell-cell junction. Is expressed in several structures, including central nervous system; genitourinary system; heart and pericardium; jaw; and musculoskeletal system. Used to study congenital myasthenic syndrome 19. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 19. Orthologous to human COL13A1 (collagen type XIII alpha 1 chain). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Col13a1 |
| Official Name | collagen, type XIII, alpha 1 [Source:MGI Symbol;Acc:MGI:1277201] |
| Ensembl ID | ENSMUSG00000058806 |
| Bio databases IDs | |
| Aliases | collagen, type XIII, alpha 1 |
| Synonyms | CMS19, Collagen13, collagen, type XIII, alpha 1, collagen type XIII alpha 1 chain, collagen, type XIII, α 1, collagen type XIII α 1 chain, COLLAGEN XIII, COLXIIIA1, Procollagen type xiii alpha1 chain |
| 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 Col13a1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ectodomain
- Collagen triple helix repeat (20 copies)
- protein binding
- heparin binding
Pathways
Biological processes and signaling networks where the Col13a1 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
- Dupuytren contracture
- thyroid carcinoma
- epithelial thyroid cancer
- myopathy
- anaplastic thyroid carcinoma
- anaplastic thyroid cancer
- congenital myasthenic syndrome type 19
- Peyronie disease
- diabetic foot ulcer disorder
- laser induced choroidal neovascularization
regulates
- cadherin
- acetylcholine
role in cell
- adhesion
- differentiation
- migration
- development
- abnormal morphology
- diameter
- detachment
- action potential
- atrophy
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cell surface
- Extracellular Space
- focal adhesions
- intercellular junctions
- endoplasmic reticulum lumen
- neuromuscular junctions
- synapse
- sarcolemma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Col13a1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell-matrix adhesion
- morphogenesis of a branching structure
- skeletal system development
- cell differentiation
- extracellular matrix organization
- endochondral ossification
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- cell-cell junction
- postsynaptic membrane
- extracellular region
- collagen type XIII
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- extracellular matrix structural constituent conferring tensile strength
- heparin binding