COLQ Gene Summary [Human]
This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | COLQ |
| Official Name | collagen like tail subunit of asymmetric acetylcholinesterase [Source:HGNC Symbol;Acc:HGNC:2226] |
| Ensembl ID | ENSG00000206561 |
| Bio databases IDs | |
| Aliases | collagen like tail subunit of asymmetric acetylcholinesterase, single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase, collagenic tail of endplate acetylcholinesterase, AChE Q subunit, acetylcholinesterase-associated collagen |
| Synonyms | A130034K24RIK, CMS5, collagen like tail subunit of asymmetric acetylcholinesterase, EAD |
| Species | Human, Homo sapiens |
| 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 human 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 human 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