Col11a1 Gene Summary [Mouse]
This gene encodes the alpha-1 subunit of type XI collagen, one of the low abundance fibrillar collagens that is essential for normal embryonic skeletal development and the cohesive properties of cartilage. The encoded protein, in association with the alpha-1 subunit of type II collagen, forms a heterotrimeric type XI procollagen that undergoes proteolytic processing. Mice lacking the encoded protein develop severe chondrodysplasia and die at birth. [provided by RefSeq, Dec 2015]
Details
| Type | Protein Coding |
| Official Symbol | Col11a1 |
| Official Name | collagen, type XI, alpha 1 [Source:MGI Symbol;Acc:MGI:88446] |
| Ensembl ID | ENSMUSG00000027966 |
| Bio databases IDs | |
| Aliases | collagen, type XI, alpha 1 |
| Synonyms | C530001D20RIK, cho, CO11A1, COLL6, collagen, type XI, alpha 1, collagen type XI alpha 1 chain, collagen, type XI, α 1, collagen type XI α 1 chain, DFNA37, STL2 |
| 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 Col11a1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Concanavalin A-like lectin/glucanases superfamily
- triple helical domain
- P6b region
- binding protein
- Fibrillar collagen C-terminal domain
- LamG
- extracellular matrix structural constituent
- Collagen triple helix repeat (20 copies)
- amino-propeptide domain
- heparin binding
- glycosaminoglycan binding
- major triple helix
Pathways
Biological processes and signaling networks where the Col11a1 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
- epithelial cancer
- lung cancer
- cancer
- neoplasia
- gastric cancer
- hepatocellular carcinoma
- pervasive developmental disorder
- liver cancer
- Dupuytren contracture
- Marshall syndrome
phenotypes
- abnormal embryo size
- abnormal facial morphology
- abnormal limb morphology
- decreased startle reflex
- increased exploration in new environment
- preweaning lethality complete penetrance
- abnormal auditory brainstem response waveform shape
- abnormal bone marrow cavity morphology
- abnormal chondrocyte morphology
- abnormal cochlea morphology
- abnormal costal cartilage morphology
- abnormal endochondral bone ossification
- abnormal epiphyseal plate morphology
- abnormal hindlimb morphology
- abnormal hyaline cartilage morphology
- abnormal joint mobility
- abnormal knee joint morphology
- abnormal long bone diaphysis morphology
- abnormal long bone epiphyseal plate morphology
- abnormal long bone epiphyseal plate proliferative zone
- abnormal long bone metaphysis morphology
- abnormal organ of Corti morphology
- abnormal trabecular bone morphology
- abnormal tracheal cartilage morphology
- absent cochlear inner hair cells
- absent cochlear outer hair cells
- cleft palate
- decreased bone mineralization
- decreased length of long bones
- increased diameter of long bones
- micromelia
- neonatal lethality complete penetrance
- organ of Corti degeneration
- osteoarthritis
- protruding tongue
- respiratory failure
- short mandible
- short snout
- shortened head
- small Meckel's cartilage
role in cell
- expression in
- phosphorylation in
- proliferation
- invasion by
- migration
- binding in
- invasion
- organization
- development
- metastatic potential
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
- extracellular matrix
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Col11a1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ventricular cardiac muscle tissue morphogenesis
- chondrocyte development
- visual perception
- proteoglycan metabolic process
- embryonic skeletal system morphogenesis
- sensory perception of sound
- cartilage condensation
- ossification
- inner ear morphogenesis
- extracellular matrix organization
- endodermal cell differentiation
- tendon development
- collagen fibril organization
- detection of mechanical stimulus involved in sensory perception of sound
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- collagen type XI
- extracellular region
Molecular Function
What the gene product does at the molecular level
- extracellular matrix binding
- metal ion binding
- extracellular matrix structural constituent conferring tensile strength
- heparin binding
- protein binding, bridging
- extracellular matrix structural constituent