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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 |
|
|
| gastric acid secretion |
|
|
| gastrin-induced gastric acid secretion |
|
|
| regulation of heart rate |
|
|
| system process |
|
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]
positive regulation of biological process [inference]
negative regulation of biological process [inference]
regulation of cellular process [inference]
regulation of multicellular organismal process [inference]
regulation of biological quality [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytosol |
|
|
| plasma membrane |
|
|
| plasma membrane |
|
|
| plasma membrane |
|
|
| plasma membrane |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| monoatomic ion channel activity |
|
|
| ion channel activity |
|
|
| voltage-gated potassium channel activity |
|
|
| voltage-gated potassium channel activity |
|
|
| delayed rectifier potassium channel activity |
|
GO Hierarchy
molecular function
transporter activity [inference]
transmembrane transporter activity [inference]
monoatomic ion transmembrane transporter activity [inference]
monoatomic ion channel activity
monoatomic cation transmembrane transporter activity [inference]
passive transmembrane transporter activity [inference]
channel activity [inference]
monoatomic ion channel activity
gated channel activity [inference]
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:9352 | type 2 diabetes mellitus | |
| DOID:2842 | Jervell-Lange Nielsen syndrome | |
| DOID:2843 | long QT syndrome | |
| DOID:0050650 | familial atrial fibrillation | |
| DOID:0050793 | short QT syndrome | |
| DOID:0060224 | atrial fibrillation | |
| DOID:0110644 | long QT syndrome 1 |
Ortholog
| Species | Gene ID | Alliance of Genome Resources |
|---|---|---|
| 16535 | MGI:108083 | |
| 84020 | RGD:621503 |
