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

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

中文名称:钾电压门控通道亚家族 E 调节亚基 1

种属: Homo sapiens

同用名: ISK; JLNS; LQT5; MinK; JLNS2; LQT2/5

基因 ID: 3753 | 基因类型: protein coding

关于 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.

功能概要

该基因的产物属于钾通道 KCNE 家族。钾离子通道对许多细胞功能至关重要,并表现出高度的多样性,其电生理学和药理学特性各不相同。该基因编码一种跨膜蛋白,已知该蛋白与 KVLQT1 基因的产物相关,可形成延迟整流钾通道。该基因的突变与 Jervell 和 Lange-Nielsen 以及 Romano-Ward 形式的长 QT 综合征有关。已经鉴定出编码相同蛋白质的可变剪接转录物变体。[RefSeq 提供,2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cardiac muscle cell action potential involved in contraction IMP
IMP: 通过突变表型推断
10400998 GOA
involved in cellular response to cAMP IDA
IDA: 通过直接分析推断
11299204 GOA
involved in membrane repolarization IDA
IDA: 通过直接分析推断
8900283 GOA
involved in membrane repolarization during action potential IDA
IDA: 通过直接分析推断
8900283 GOA
involved in membrane repolarization during cardiac muscle cell action potential IDA
IDA: 通过直接分析推断
8900283 GOA
involved in membrane repolarization during cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
10400998 GOA
involved in membrane repolarization during ventricular cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
9354802 GOA
involved in negative regulation of delayed rectifier potassium channel activity IDA
IDA: 通过直接分析推断
19219384 GOA
involved in positive regulation of potassium ion transmembrane transport IDA
IDA: 通过直接分析推断
8900283 GOA
involved in potassium ion export across plasma membrane IDA
IDA: 通过直接分析推断
8900283 GOA
involved in potassium ion transmembrane transport IDA
IDA: 通过直接分析推断
8900283 GOA
involved in regulation of delayed rectifier potassium channel activity IDA
IDA: 通过直接分析推断
10400998 GOA
involved in regulation of heart rate by cardiac conduction IMP
IMP: 通过突变表型推断
10400998 GOA
involved in regulation of potassium ion transmembrane transport IDA
IDA: 通过直接分析推断
10400998 GOA
involved in regulation of potassium ion transport IDA
IDA: 通过直接分析推断
9230439 GOA
involved in regulation of ventricular cardiac muscle cell membrane repolarization IMP
IMP: 通过突变表型推断
9354802 GOA
involved in ventricular cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
9354802 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IDA
IDA: 通过直接分析推断
10400998 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
19219384 GOA
part of voltage-gated potassium channel complex IDA
IDA: 通过直接分析推断
17289006 GOA
part of voltage-gated potassium channel complex IPI
IPI: 通过物理相互作用推断
19521339 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

KCNE1 蛋白结构

ISK_Channel

ISK_Channel: Slow voltage-gated potassium channel (1 - 128)

  • 0
  • 100
  • 129 a.a.
蛋白主名 其他名称

potassium voltage-gated channel subfamily E member 1

IKs producing slow voltage-gated potassium channel subunit beta Mink

KCNE1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
KCNE1 P15382 KCNQ1 Homo sapiens P51787 19521339
种属内
KCNE1 P15382 KCNQ1 Homo sapiens P51787 19521339
种属内
KCNE1 P15382 KCNQ1 Homo sapiens P51787 19521339
种属间
KCNE1 P15382 Tcap Rattus norvegicus A6HIS0
Y2H
11697903
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus KCNE1 RGD RGD:2956
Mus musculus KCNE1 MGD MGI:96673