Col9a1 Gene Summary [Mouse]
Predicted to enable carbohydrate binding activity and protein homodimerization activity. Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within chondrocyte proliferation; growth plate cartilage development; and tissue homeostasis. Predicted to be located in extracellular region. Predicted to be part of collagen type IX trimer. Predicted to be active in collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including genitourinary system; respiratory system; salivary gland primordium; sensory organ; and skeleton. Used to study osteoarthritis. Human ortholog(s) of this gene implicated in Stickler syndrome; multiple epiphyseal dysplasia 6; and osteochondrodysplasia. Orthologous to human COL9A1 (collagen type IX alpha 1 chain). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Col9a1 |
| Official Name | collagen, type IX, alpha 1 [Source:MGI Symbol;Acc:MGI:88465] |
| Ensembl ID | ENSMUSG00000026147 |
| Bio databases IDs | |
| Aliases | collagen, type IX, alpha 1 |
| Synonyms | Collagen alpha1(IX), collagen, type IX, alpha 1, collagen type IX alpha 1 chain, collagen, type IX, α 1, collagen type IX α 1 chain, DJ149L1.1.2, EDM6, MED, STL4 |
| 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 Col9a1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- NC4 domain
- triple helical domain
- LamG
- protein homodimerization
- Collagen triple helix repeat (20 copies)
- protein binding
- carbohydrate binding
Pathways
Biological processes and signaling networks where the Col9a1 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
- retinal dystrophy
- Dupuytren contracture
- Peyronie disease
- connective tissue disorder
- cellulite of the buttocks
- sensorineural hearing loss
- Stickler syndrome IV
- osteoarthritis
- hereditary arthro-ophthalmopathy
- diabetic foot ulcer disorder
role in cell
- proliferation
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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Col9a1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- extracellular matrix organization
- organ morphogenesis
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- collagen type IX
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein homodimerization activity
- metal ion binding
- extracellular matrix structural constituent conferring tensile strength
- carbohydrate binding