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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- Reference proteome
- Short QT syndrome
- Transmembrane helix
- Ubl conjugation
- Voltage-gated channel
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| cardiac muscle cell contraction |
|
|
| inner ear morphogenesis | ||
| potassium ion import across plasma membrane | ||
| regulation of membrane repolarization | ||
| detection of mechanical stimulus involved in 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 |
|---|---|---|
| basolateral part of cell | ||
| endoplasmic reticulum | ||
| transport vesicle | ||
| cytoplasm | ||
| cytoplasmic vesicle membrane |
GO Hierarchy
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]
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:10763 | hypertension | |
| DOID:2842 | Jervell-Lange Nielsen syndrome | |
| DOID:2843 | long QT syndrome | |
| DOID:4440 | seminoma | |
| DOID:9352 | type 2 diabetes mellitus |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 101880148 | MELUD07645 | ||
| 113885973 | BOBOX00967 | ||
| 100956736 | OTOGA04828 | ||
| 102009727 | CHILA06902 | ||
| 105719885 | AOTNA33399 | ||
| 101968979 | ICTTR04229 | ||
| 117029982 | RHIFE30155 | ||
| 100230526 | TAEGU24981 | ||
| 101820344 | FICAL04822 | ||
| 114599031 | PODMU08357 |
