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

Homo sapiens

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

Gene ID: 3753 | Gene type: protein coding

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

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

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-122504	Linoleoyl glycine	Inhibitor	/	Unkown
HY-RS07115	KCNE1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

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