Gene
colq
- ID
- ZDB-GENE-110411-119
- Name
- collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
- Symbol
- colq Nomenclature History
- Previous Names
-
- si:dkeyp-86h10.5
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable heparin binding activity. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 5. Orthologous to human COLQ (collagen like tail subunit of asymmetric acetylcholinesterase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital myasthenic syndrome 5 | Alliance | Myasthenic syndrome, congenital, 5 | 603034 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Collagen superfamily | Collagen triple helix repeat | Myxococcus cysteine-rich repeat |
|---|---|---|---|---|---|
| UniProtKB:F1Q7Y1 | InterPro | 455 | |||
| UniProtKB:A0A8M3ATD0 | InterPro | 467 |
Interactions and Pathways
No data available
Plasmids
No data available