Gene
kcnq1.1
- ID
- ZDB-GENE-061214-5
- Name
- potassium voltage-gated channel, KQT-like subfamily, member 1.1
- Symbol
- kcnq1.1 Nomenclature History
- Previous Names
-
- kcnq1
- zgc:158384
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to have calmodulin binding activity and delayed rectifier potassium channel activity. Involved in cardiac muscle cell action potential; kidney development; and renal filtration. Predicted to localize to voltage-gated potassium channel complex. Human ortholog(s) of this gene implicated in heart conduction disease (multiple) and long QT syndrome (multiple). Is expressed in brain; heart; and inner ear. Orthologous to human KCNQ1 (potassium voltage-gated channel subfamily Q member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Liu et al., 2011
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| familial atrial fibrillation | Alliance | Atrial fibrillation, familial, 3 | 607554 |
| Jervell-Lange Nielsen syndrome | Alliance | Jervell and Lange-Nielsen syndrome | 220400 |
| long QT syndrome 1 | Alliance | Long QT syndrome 1 | 192500 |
| long QT syndrome 1 | Alliance | {Long QT syndrome 1, acquired, susceptibility to} | 192500 |
| short QT syndrome | Alliance | Short QT syndrome 2 | 609621 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR005821 | Ion transport domain |
| Domain | IPR013821 | Potassium channel, voltage dependent, KCNQ, C-terminal |
| Family | IPR003937 | Potassium channel, voltage dependent, KCNQ |
| Family | IPR005827 | Potassium channel, voltage dependent, KCNQ1 |
| Homologous_superfamily | IPR027359 | Voltage-dependent channel domain superfamily |
Domain Details Per Protein
| Protein | Length | Ion transport domain | Potassium channel, voltage dependent, KCNQ | Potassium channel, voltage dependent, KCNQ1 | Potassium channel, voltage dependent, KCNQ, C-terminal | Voltage-dependent channel domain superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A286YA22
|
643 | |||||
|
UniProtKB:B0R0K2
|
655 |
Interactions and Pathways
No data available
Plasmids
No data available