Entity Details

Primary name KCNQ1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP51787
EntryNameKCNQ1_HUMAN
FullNamePotassium voltage-gated channel subfamily KQT member 1
TaxID9606
Evidenceevidence at protein level
Length676
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesKCNQ1

GO terms

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GOName
GO:0005249 voltage-gated potassium channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005516 calmodulin binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005769 early endosome
GO:0005770 late endosome
GO:0005783 endoplasmic reticulum
GO:0005886 plasma membrane
GO:0006349 regulation of gene expression by genetic imprinting
GO:0007605 sensory perception of sound
GO:0008016 regulation of heart contraction
GO:0008076 voltage-gated potassium channel complex
GO:0008157 protein phosphatase 1 binding
GO:0010460 positive regulation of heart rate
GO:0015271 outward rectifier potassium channel activity
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016458 gene silencing
GO:0030659 cytoplasmic vesicle membrane
GO:0034236 protein kinase A catalytic subunit binding
GO:0034237 protein kinase A regulatory subunit binding
GO:0034702 ion channel complex
GO:0035690 cellular response to drug
GO:0044325 transmembrane transporter binding
GO:0045121 membrane raft
GO:0048839 inner ear development
GO:0050892 intestinal absorption
GO:0060048 cardiac muscle contraction
GO:0060306 regulation of membrane repolarization
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization
GO:0060372 regulation of atrial cardiac muscle cell membrane repolarization
GO:0060452 positive regulation of cardiac muscle contraction
GO:0060453 regulation of gastric acid secretion
GO:0061337 cardiac conduction
GO:0070293 renal absorption
GO:0071320 cellular response to cAMP
GO:0071805 potassium ion transmembrane transport
GO:0071872 cellular response to epinephrine stimulus
GO:0072359 circulatory system development
GO:0086005 ventricular cardiac muscle cell action potential
GO:0086008 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization
GO:0086011 membrane repolarization during action potential
GO:0086013 membrane repolarization during cardiac muscle cell action potential
GO:0086014 atrial cardiac muscle cell action potential
GO:0086089 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization
GO:0086091 regulation of heart rate by cardiac conduction
GO:0097110 scaffold protein binding
GO:0097623 potassium ion export across plasma membrane
GO:0098914 membrane repolarization during atrial cardiac muscle cell action potential
GO:0098915 membrane repolarization during ventricular cardiac muscle cell action potential
GO:1901381 positive regulation of potassium ion transmembrane transport
GO:1902260 negative regulation of delayed rectifier potassium channel activity
GO:1902282 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization
GO:1903817 negative regulation of voltage-gated potassium channel activity

Subcellular Location

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Subcellular Location
Basolateral cell membrane
Cell membrane
Cytoplasmic vesicle membrane
Early endosome
Endoplasmic reticulum
Membrane raft

Domains

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DomainNameCategoryType
IPR003937 Potassium channel, voltage dependent, KCNQFamilyFamily
IPR005821 Ion transport domainDomainDomain
IPR005827 Potassium channel, voltage dependent, KCNQ1FamilyFamily
IPR013821 Potassium channel, voltage dependent, KCNQ, C-terminalDomainDomain
IPR028325 Voltage-gated potassium channelFamilyFamily

Diseases

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Disease IDSourceNameDescription
609621 OMIMShort QT syndrome 2 (SQT2)A heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It causes syncope and sudden death. The disease is caused by variants affecting the gene represented in this entry.
192500 OMIMLong QT syndrome 1 (LQT1)A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. The disease is caused by variants affecting the gene represented in this entry.
607554 OMIMAtrial fibrillation, familial, 3 (ATFB3)An autosomal dominant form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. The disease is caused by variants affecting the gene represented in this entry.
220400 OMIMJervell and Lange-Nielsen syndrome 1 (JLNS1)An autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death. The disease is caused by variants affecting the gene represented in this entry.
125853 OMIMDiabetes mellitus, non-insulin-dependent (NIDDM)A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00228 EnfluraneDrugbanksmall molecule
DB01069 PromethazineDrugbanksmall molecule
DB01110 MiconazoleDrugbanksmall molecule
DB01244 BepridilDrugbanksmall molecule
DB04855 DronedaroneDrugbanksmall molecule
DB04957 AzimilideDrugbanksmall molecule
DB06089 ICA-105665Drugbanksmall molecule
DB11633 IsavuconazoleDrugbanksmall molecule