KCNE1 - potassium voltage-gated channel subfamily E regulatory subunit 1 Gene

Also Known as ISK; JLNS; LQT5; MinK; JLNS2; LQT2/5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3753

About KCNE1

Cytogenetic location: 21q22.12 Genomic coordinates (GRCh38): 21:34,446,688-34,512,210 (from NCBI)

This gene has 14 transcripts (splice variants), 162 orthologues, 1 paralogue and is associated with 7 phenotypes. Biased expression in heart (RPKM 1.7), kidney (RPKM 1.5) and 7 other tissues.

Summary

The product of this gene belongs to the Potassium Channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier Potassium Channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

KCNE1 Products (8)

mRNA	Protein	Name
NM_000219.6	NP_000210.2	potassium voltage-gated channel subfamily E member 1
NM_001127668.4	NP_001121140.1	potassium voltage-gated channel subfamily E member 1
NM_001127669.4	NP_001121141.1	potassium voltage-gated channel subfamily E member 1
NM_001127670.4	NP_001121142.1	potassium voltage-gated channel subfamily E member 1
NM_001270402.3	NP_001257331.1	potassium voltage-gated channel subfamily E member 1
NM_001270403.2	NP_001257332.1	potassium voltage-gated channel subfamily E member 1
NM_001270404.3	NP_001257333.1	potassium voltage-gated channel subfamily E member 1
NM_001270405.3	NP_001257334.1	potassium voltage-gated channel subfamily E member 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to delayed rectifier potassium channel activity	IDA IDA: Inferred from direct assay	8900283	GOA
enables delayed rectifier potassium channel activity	IDA IDA: Inferred from direct assay	24269949	GOA
enables potassium channel regulator activity	IDA IDA: Inferred from direct assay	8900283	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9230439	GOA
enables telethonin binding	IPI IPI: Inferred from physical interaction	11697903	GOA
NOT enables voltage-gated potassium channel activity	IDA IDA: Inferred from direct assay	9230439	GOA
contributes to voltage-gated potassium channel activity	IDA IDA: Inferred from direct assay	17289006	GOA
contributes to voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	IDA IDA: Inferred from direct assay	10400998	GOA
contributes to voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IMP IMP: Inferred from mutant phenotype	9354802	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cardiac muscle cell action potential involved in contraction	IMP IMP: Inferred from mutant phenotype	10400998	GOA
involved in cellular response to cAMP	IDA IDA: Inferred from direct assay	11299204	GOA
involved in membrane repolarization	IDA IDA: Inferred from direct assay	8900283	GOA
involved in membrane repolarization during action potential	IDA IDA: Inferred from direct assay	8900283	GOA
involved in membrane repolarization during cardiac muscle cell action potential	IDA IDA: Inferred from direct assay	8900283	GOA
involved in membrane repolarization during cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	10400998	GOA
involved in membrane repolarization during ventricular cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	9354802	GOA
involved in negative regulation of delayed rectifier potassium channel activity	IDA IDA: Inferred from direct assay	19219384	GOA
involved in positive regulation of potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	8900283	GOA
involved in potassium ion export across plasma membrane	IDA IDA: Inferred from direct assay	8900283	GOA
involved in potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	8900283	GOA
involved in regulation of delayed rectifier potassium channel activity	IDA IDA: Inferred from direct assay	10400998	GOA
involved in regulation of heart rate by cardiac conduction	IMP IMP: Inferred from mutant phenotype	10400998	GOA
involved in regulation of potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	10400998	GOA
involved in regulation of potassium ion transport	IDA IDA: Inferred from direct assay	9230439	GOA
involved in regulation of ventricular cardiac muscle cell membrane repolarization	IMP IMP: Inferred from mutant phenotype	9354802	GOA
involved in ventricular cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	9354802	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell surface	IDA IDA: Inferred from direct assay	10400998	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	19219384	GOA
part of voltage-gated potassium channel complex	IDA IDA: Inferred from direct assay	17289006	GOA
part of voltage-gated potassium channel complex	IPI IPI: Inferred from physical interaction	19521339	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KCNE1 Protein Structure

ISK_Channel

0
100
129 a.a.

Protein Preferred Names	Protein Names
potassium voltage-gated channel subfamily E member 1	IKs producing slow voltage-gated potassium channel subunit beta Mink

KCNE1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KCNE1	P15382	KCNQ1	Homo sapiens	P51787	FRET	19521339
Intra	KCNE1	P15382	KCNQ1	Homo sapiens	P51787	Anti Tag CoIP	19521339
Intra	KCNE1	P15382	KCNQ1	Homo sapiens	P51787	Pull Down	19521339
Cross	KCNE1	P15382	Tcap	Rattus norvegicus	A6HIS0	Y2H	11697903

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Long Qt Syndrome 5	LQT5 Long Qt Syndrome 2/5 Lqt2/5 Susceptibility To Acquired Long Qt Syndrome 5 Long Qt Syndrome-5 Long Qt Syndrome 5, Acquired, Susceptibility To Qt Syndrome, Long, Type 5 Long Qt Syndrome 2-5
Jervell And Lange-Nielsen Syndrome 2	JLNS2 Cardioauditory Syndrome Of Jervell And Lange-Nielsen Congenital Deafness And Functional Heart Disease Long Qt Interval-Deafness Prolonged Qt Interval In Ekg And Sudden Death Surdo-Cardiac Syndrome Jervell And Lange-Nielsen Syndrome, Type 2 Jervell-Lange Nielsen Syndrome
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Hereditary Hearing Loss And Deafness
Jervell And Lange-Nielsen Syndrome 1	Jervell And Lange-Nielsen Syndrome Jervell-Lange Nielsen Syndrome Prolonged Qt Interval In Ekg And Sudden Death Cardioauditory Syndrome Of Jervell And Lange-Nielsen Surdo-Cardiac Syndrome JLNS1 Deafness, Congenital, And Functional Heart Disease Jlns Long Qt Interval-Deafness Syndrome Jervell And Lange-Nielson Syndrome Jervell Lange-Nielsen Syndrome Autosomal Recessive Long Qt Syndrome Cardio-Auditory-Syncope Syndrome Long Qt Interval-Hearing Loss Syndrome Congenital Deafness And Functional Heart Disease Long Qt Interval-Deafness
Long Qt Syndrome 2	LQT2 Long Qt Syndrome, Acquired, Reduced Susceptibility To Long Qt Syndrome 1/2 Long Qt Syndrome 2/3 Long Qt Syndrome 2/5 Long Qt Syndrome 2, Acquired, Susceptibility To Long Qt Syndrome, Acquired, Reduced Long Qt Syndrome Type 2 Long Qt Syndrome 2/9 Lqt1/2 Lqt2/3 Lqt2/5 Lqt2/9 Susceptibility To Acquired Long Qt Syndrome 2 Long Qt Syndrome-2 Qt Syndrome, Long, Type 2 Long Qt Syndrome 1-2 Long Qt Syndrome 2-3 Long Qt Syndrome 2-5 Long Qt Syndrome 9
Long Qt Syndrome 1	Romano-Ward Syndrome LQT1 Ward-Romano Syndrome Rws Ventricular Fibrillation With Prolonged Qt Interval Wrs Long Qt Syndrome 1, Acquired, Susceptibility To Long Qt Syndrome 1, Acquired Romano-Ward Long Qt Syndrome Long Qt Syndrome Type 1 Long Qt Syndrome-1 Acquired Susceptibility To Long Qt Syndrome 1 Qt Syndrome, Long, Type 1
Familial Long Qt Syndrome	Congenital Long Qt Syndrome Lqts
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 1
Meckel'S Diverticulitis	Meckel Diverticulitis
Long Qt Syndrome 6	LQT6 Long Qt Syndrome 3/6 Lqt3/6 Susceptibility To Acquired Long Qt Syndrome 6 Long Qt Syndrome-6 Long Qt Syndrome 6, Acquired, Susceptibility To Qt Syndrome, Long, Type 6 Long Qt Syndrome 3-6
Inflamed Seborrheic Keratosis
Atrioventricular Block	Av Block
Cardiac Arrhythmia, Ankyrin-B-Related	Long Qt Syndrome 4 Ankyrin-B Syndrome LQT4 Ankyrin-B-Related Cardiac Arrhythmia Sick Sinus Syndrome With Bradycardia Arrhythmia, Cardiac, Ankyrin B-Related
Sick Sinus Syndrome	Sinus Node Dysfunction Sinus Node Disease Sinus Node Infection Snd Sss Snd - [Sinus Node Dysfunction] Sinoatrial Node Dysfunction Sss - [Sick Sinus Syndrome] Sick Sinus Sick Sinus Tachycardia
Atrial Fibrillation	A-Fib Fibrillation, Atrial Af - [Atrial Fibrillation] Rapid Atrial Fibrillation A Fib - [Atrial Fibrillation]
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Long Qt Syndrome 3	LQT3 Long Qt Syndrome Type 3 Long Qt Syndrome-3 Qt Syndrome, Long, Type 3
Short Qt Syndrome	Sqts Familial Short Qt Syndrome
Long Qt Syndrome 11	LQT11 Long Qt Syndrome-11 Qt Syndrome, Long, Type 11
Volvulus Of Midgut	Volvulus Intestinal Volvulus Intestinal Malrotation, Familial Familial Intestinal Malrotation Twist Of Intestine, Bowel, Or Colon
Brugada Syndrome	Sudden Unexpected Nocturnal Death Syndrome Sudden Unexplained Nocturnal Death Syndrome Bangungut Brugada Type Idiopathic Ventricular Fibrillation Pokkuri Death Syndrome Sunds Idiopathic Ventricular Fibrillation, Brugada Type Sudden Unexplained Death Dream Disease Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sudden Unexplained Death Syndrome Suds Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Rare Genetic Deafness	Rare Genetic Hearing Loss
Long Qt Syndrome 13	LQT13 Qt Syndrome, Long, Type 13
Long Qt Syndrome 10	LQT10 Atrial Fibrillation, Familial, 17 ATFB17 Long Qt Syndrome-10 Qt Syndrome, Long, Type 10
Long Qt Syndrome 12	LQT12 Qt Syndrome, Long, Type 12
Andersen Cardiodysrhythmic Periodic Paralysis	Andersen Syndrome Andersen-Tawil Syndrome LQT7 Long Qt Syndrome 7 Ats Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type Long Qt Syndrome Type 7 Andersen Tawil Syndrome Potassium-Sensitive Cardiodysrhythmic Type Lqts Type 7 Long Qt Syndrome-7
Long Qt Syndrome 9	LQT9 Long Qt Syndrome-9 Qt Syndrome, Long, Type 9
Intrinsic Cardiomyopathy
Timothy Syndrome	Long Qt Syndrome With Syndactyly TS Lqt8 Long Qt Syndrome 8 Long Qt Syndrome Type 8 Long Qt Syndrome-Syndactyly Syndrome
Deafness, Autosomal Recessive 98	DFNB98 Autosomal Recessive Nonsyndromic Deafness 98 Autosomal Recessive Deafness 98 Deafness, Autosomal Recessive, 98 Deafness, Autosomal Recessive, Type 98
Peripheral Vertigo	Vertigo, Peripheral
Catecholaminergic Polymorphic Ventricular Tachycardia	Cpvt Catecholamine-Induced Polymorphic Ventricular Tachycardia Familial Polymorphic Ventricular Tachycardia Malignant Paroxysmal Ventricular Tachycardia Multifocal Ventricular Premature Beats Stress-Induced Polymorphic Ventricular Tachycardia Bidirectional Tachycardia Induced By Catecholamine Double Tachycardia Induced By Catecholamines Polymorphic Catecholergic Ventricular Tachycardia Syncopal Paroxysmal Tachycardia Bidirectional Tachycardia Induced By Catecholamines Fpvt Bidirectional Ventricular Tachycardia Induced By Catecholamine Polymorphic Ventricular Tachycardia Induced By Catecholamines Ventricular Tachycardia, Catecholaminergic Polymorphic Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 Familial Ventricular Tachycardia Multifocal Pvcs Multifocal Premature Ventricular Beats
Pyriform Sinus Cancer	Malignant Neoplasm Of Pyriform Fossa Malignant Neoplasm Of The Pyriform Fossa Malignant Tumor Of Pyriform Fossa
Heart Conduction Disease	Conduction Disorder Of The Heart Heart Rhythm Disease
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Meniere Disease	Meniere'S Disease Otogenic Vertigo Ménière Disease Ménière'S Disease Mnire'S Vertigo Auditory Vertigo Aural Vertigo Meniere'S Syndrome Ménière'S Vertigo Primary Endolymphatic Hydrops Menieres Disease Vertigo, Aural Labyrinth Hydrops Labyrinthine Hydrops Labyrinthine Vertigo Ménière Syndrome Ménière Vertigo Idiopathic Endolymphatic Hydrops
Vestibular Disease	Vestibular Diseases Vertigo, Vestibular Disorder Vestibular Disorder Diseases Of Inner Ear
Ventricular Fibrillation, Paroxysmal Familial, 1	Paroxysmal Familial Ventricular Fibrillation Ivf Ventricular Fibrillation, Idiopathic Ventricular Fibrillation VF1 Vf Ventricular Fibrillation, Familial, 1 Paroxysmal Ventricular Fibrillation Idiopathic Ventricular Fibrillation Ventricular Fibrillation, Paroxysmal Familial, Type 1 Ventricular Fibrillation, Paroxysmal Familial Familial Paroxysmal Ventricular Fibrillation 1 Susceptibility To Ventricular Fibrillation During Myocardial Infarction Ventricular Fibrillation Adverse Event
Benign Familial Neonatal Epilepsy	Familial Neonatal Seizures Bfns Benign Familial Neonatal Convulsions Benign Familial Neonatal Seizures Epilepsy Benign Neonatal Familial Familial Benign Neonatal Convulsions Benign Neonatal Familial Convulsions Familial Benign Neonatal Epilepsy Epilepsy, Benign Neonatal, 2 Benign Familial Convulsion
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-120960	N-Arachidonoyl-L-serine		98%	Unkown
HY-122504	Linoleoyl glycine	Inhibitor	/	Unkown
HY-184207	Zinc13732787	Inhibitor	/	Unkown
HY-RS07115	KCNE1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	KCNE1	RGD	RGD:2956
Mus musculus	KCNE1	MGD	MGI:96673