Colq Gene Summary [Mouse]
Predicted to enable heparin binding activity. Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within establishment of protein localization to membrane; regulation of synaptic assembly at neuromuscular junction; and skeletal muscle acetylcholine-gated channel clustering. Located in neuromuscular junction. Is expressed in diaphragm. Used to study congenital myasthenic syndrome 5. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 5. Orthologous to human COLQ (collagen like tail subunit of asymmetric acetylcholinesterase). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Colq |
| Official Name | collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase [Source:MGI Symbol;Acc:MGI:1338761] |
| Ensembl ID | ENSMUSG00000057606 |
| Bio databases IDs | |
| Aliases | collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase |
| Synonyms | A130034K24RIK, CMS5, collagen like tail subunit of asymmetric acetylcholinesterase, EAD |
| 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 Colq often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Collagen triple helix repeat (20 copies)
- protein binding
- structural molecule
- proline rich domain
- heparin binding
- cysteine rich domain
- proline-rich attachment domain
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
- myelodysplastic syndrome
- congenital myasthenic syndrome with endplate acetylcholinesterase deficiency
- diverticulitis
- diverticular disease
- breast cancer
- congenital myasthenic syndrome
- severe acute respiratory syndrome
- leiomyomatosis
- Crohn disease
role in cell
- expression in
- number
- abnormal morphology
- growth
- diameter
- catabolism in
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 junction
- Plasma Membrane
- neuromuscular junctions
- synapse
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Colq gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- skeletal muscle acetylcholine-gated channel clustering
- regulation of synaptic growth at neuromuscular junction
- extracellular matrix organization
- acetylcholine catabolic process in synaptic cleft
- establishment of protein localization in membrane
Cellular Component
Where in the cell the gene product is active
- extracellular space
- basement membrane
- synaptic cleft
- collagen
- cell junction
- neuromuscular junction
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- extracellular matrix structural constituent conferring tensile strength
- heparin binding
- extracellular matrix structural constituent