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MIRAGE
potassium voltage-gated channel subfamily Q member 1
Summary
- Gene Symbol
-
- KCNQ1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Atrial fibrillation
- Calmodulin-binding
- Cell membrane
- Coiled coil
- Cytoplasmic vesicle
- Deafness
- Diabetes mellitus
- Disease variant
- Endoplasmic reticulum
- Endosome
- Glycoprotein
- Long QT syndrome
- Phosphoprotein
- Potassium channel
- Proteomics identification
- Reference proteome
- Short QT syndrome
- Transmembrane helix
- Ubl conjugation
- Voltage-gated channel
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| action potential | ||
| gastrin-induced gastric acid secretion | ||
| glucose metabolic process | ||
| heart development | ||
| sensory perception of sound |
GO Hierarchy
biological process
cellular process [inference]
response to stimulus [inference]
localization [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of localization [inference]
regulation of transport [inference]
regulation of transmembrane transport [inference]
regulation of monoatomic ion transport [inference]
negative regulation of transport [inference]
positive regulation of biological process [inference]
negative regulation of biological process [inference]
regulation of cellular process [inference]
regulation of transmembrane transport [inference]
regulation of multicellular organismal process [inference]
regulation of biological quality [inference]
regulation of molecular function [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytoplasm | ||
| lysosome | ||
| early endosome | ||
| early endosome | ||
| late endosome |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| voltage-gated potassium channel activity | ||
| delayed rectifier potassium channel activity | ||
| protein binding | ||
| calmodulin binding | ||
| phosphatidylinositol-4,5-bisphosphate binding |
GO Hierarchy
molecular function
transporter activity [inference]
transmembrane transporter activity [inference]
monoatomic ion transmembrane transporter activity [inference]
monoatomic ion channel activity [inference]
monoatomic cation transmembrane transporter activity [inference]
inorganic molecular entity transmembrane transporter activity [inference]
passive transmembrane transporter activity [inference]
channel activity [inference]
monoatomic ion channel activity [inference]
gated channel activity [inference]
salt transmembrane transporter activity [inference]
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Potassium voltage-gated channel subfamily KQT member
- Functional Category
-
- E: Amino acid transport and metabolism
- K: Transcription
- P: Inorganic ion transport and metabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| monoatomic ion channel activity |
| monoatomic ion transport |
| potassium channel activity |
| voltage-gated potassium channel activity |
| InterPro |
|---|
| Ion transport domain |
| Potassium channel, voltage dependent, KCNQ, C-terminal |
| Potassium channel, voltage dependent, KCNQ |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050650 | familial atrial fibrillation | |
| DOID:0050793 | short QT syndrome | |
| DOID:0060224 | atrial fibrillation | |
| DOID:0110644 | long QT syndrome 1 | |
| DOID:2842 | Jervell-Lange Nielsen syndrome | |
| DOID:2843 | long QT syndrome | |
| DOID:9352 | type 2 diabetes mellitus |
