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KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 [ Homo sapiens (human) ]

Gene ID: 3753, updated on 3-Mar-2019

Summary

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Official Symbol
KCNE1provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily E regulatory subunit 1provided by HGNC
Primary source
HGNC:HGNC:6240
See related
Ensembl:ENSG00000180509 MIM:176261
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ISK; JLNS; LQT5; MinK; JLNS2; LQT2/5
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]
Expression
Biased expression in heart (RPKM 1.7), kidney (RPKM 1.5) and 7 other tissues See more
Orthologs
mouse all

Genomic context

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See KCNE1 in Genome Data Viewer
Location:
21q22.12
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 21 NC_000021.9 (34446688..34512275, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (35790910..35884573, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene small integral membrane protein 11A Neighboring gene uncharacterized LOC105372793 Neighboring gene family with sequence similarity 243 member A Neighboring gene small integral membrane protein 34A Neighboring gene VISTA enhancer hs2084 Neighboring gene regulator of calcineurin 1 Neighboring gene chloride intracellular channel 6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant. Lane CM, et al. Heart Rhythm, 2018 Aug. PMID 29625280, Free PMC Article
  2. Mutation in KCNE1 associated to early repolarization syndrome by modulation of slowly activating delayed rectifier K+ current. Yao H, et al. Exp Cell Res, 2018 Feb 15. PMID 29395134
  3. Research on the relativity between gene polymorphism and children cardiac insufficiency. He XH, et al. Eur Rev Med Pharmacol Sci, 2017 Aug. PMID 28829496
  4. Association between KCNE1 G38S gene polymorphism and risk of atrial fibrillation: A PRISMA-compliant meta-analysis. Jiang YF, et al. Medicine (Baltimore), 2017 Jun. PMID 28640127, Free PMC Article
  5. Latent pathogenicity of the G38S polymorphism of KCNE1 K+ channel modulator. Yamaguchi Y, et al. Heart Vessels, 2017 Feb. PMID 27255646

See all (211) citations in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  1. relatively common variants in KCNE1 may result in a mild QT phenotype designated as "LQT5-Lite" to distinguish such potentially proarrhythmic common variants (ie, functional risk alleles) from rare pathogenic variants that truly confer monogenic disease susceptibility, albeit with incomplete penetrance.
    Title: Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant.
  2. S38G mutation induced a loss-of-function of IKs due to decreasing of KCNE1 protein expression and defecting in KCNE1 protein membrane trafficking
    Title: Mutation in KCNE1 associated to early repolarization syndrome by modulation of slowly activating delayed rectifier K<sup>+</sup> current.
  3. All the protein systems generated through these processes were refined by long Molecular Dynamics simulations. The refined models were analyzed extensively to infer data about the interaction of KCNQ1 channel with its accessory KCNE1 beta subunits.
    Title: A comprehensive structural model for the human KCNQ1/KCNE1 ion channel.
  4. In lesion samples collected from children with cardiac insufficiency, for Mink-S27, we detected significant difference in AA, CC genotype frequency and allele frequency between the observation group and the control group
    Title: Research on the relativity between gene polymorphism and children cardiac insufficiency.
  5. SUMOylation of KCNQ1 is KCNE1 dependent and determines the native attributes of cardiac IKs in vivo.
    Title: SUMOylation determines the voltage required to activate cardiac <i>I</i><sub><i>Ks</i></sub> channels.
  6. Equine KV7.1/KCNE1 expressed in CHO-K1 cells exhibited electrophysiological properties that are overall similar to the human orthologs; however, a slower deactivation was found which could result in more open channels at fast rates.
    Title: Molecular cloning and functional expression of the K<sup>+</sup> channel K<sub>V</sub>7.1 and the regulatory subunit KCNE1 from equine myocardium.
  7. The KCNE1 (rs1805127) appears to an independent risk factor for AF in the Uygur population. And the KCNE4 (rs12621643) was an independent risk factor for AF among both Uygurs and Hans.
    Title: [Association of KCNE1 and KCNE4 gene polymorphisms with atrial fibrillation among Uygur and Han Chinese populations in Xinjiang].
  8. Western blotting analysis combined with these pharmacological data suggest that long-term insulin treatment augments KCNQ1/KCNE1 currents by increasing KCNE1 protein expression.
    Title: Insulin treatment augments KCNQ1/KCNE1 currents but not KCNQ1 currents, which is associated with an increase in KCNE1 expression.
  9. KCNQ1/KCNE1 channel does not require phosphatidylinositol-4,5-bisphosphate (PIP2) or phosphatidylinositol-4-phosphate for anterograde trafficking, but is heavily reliant on PIP2 for channel function once at the plasma membrane.
    Title: Phosphatidylinositol-4,5-bisphosphate is required for KCNQ1/KCNE1 channel function but not anterograde trafficking.
  10. The genetic variant rs426496 in AQP2; rs591810 in AQP3 and rs1805127, rs1805128, and rs17173510, in KCNE1 were found in patients with Meniere's disease
    Title: Ménière's Disease: Molecular Analysis of Aquaporins 2, 3 and Potassium Channel KCNE1 Genes in Brazilian Patients.
Submit: New GeneRIF Correction See all GeneRIFs (136)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Description
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
NHGRI GWA Catalog
Several common variants modulate heart rate, PR interval and QRS duration.
NHGRI GWA Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from BioSystems

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  • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Cardiac conduction, organism-specific biosystem (from REACTOME)
    Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Phase 2 - plateau phase, organism-specific biosystem (from REACTOME)
    Phase 2 - plateau phase, organism-specific biosystemPhase 2 of the cardiac action potential is the plateau phase which is sustained by a balance of Ca2+ influx through L-type Ca2+ channels (LTCCs) and K+ efflux through the slow delayed rectifier K+ ch...
  • Phase 3 - rapid repolarisation, organism-specific biosystem (from REACTOME)
    Phase 3 - rapid repolarisation, organism-specific biosystemIn phase 3 (the "rapid repolarisation" phase), the L-type Ca2+ channels close, while the slow delayed rectifier (IKs) K+ channels remain open as more K+ leak channels open. This ensures a net outward...
  • TarBasePathway, organism-specific biosystem (from WikiPathways)
    TarBasePathway, organism-specific biosystemThis cataloge pathway was created using the database from "http://diana.cslab.ece.ntua.gr/tarbase/" with exclusions based on evidance type. This pathway only incldes miR targeted genes expressed in A...

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ18426, FLJ38123, FLJ94103, MGC33114

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
ion channel binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
potassium channel regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
potassium channel regulator activity IDA
Inferred from Direct Assay
more info
 PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
telethonin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
contributes_to voltage-gated potassium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
contributes_to voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
cardiac conduction TAS
Traceable Author Statement
more info
  
cardiac muscle cell action potential involved in contraction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
cellular response to cAMP IDA
Inferred from Direct Assay
more info
 PubMed 
membrane repolarization IDA
Inferred from Direct Assay
more info
 PubMed 
membrane repolarization during action potential IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
membrane repolarization during action potential IDA
Inferred from Direct Assay
more info
 PubMed 
membrane repolarization during cardiac muscle cell action potential IDA
Inferred from Direct Assay
more info
 PubMed 
membrane repolarization during cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
membrane repolarization during ventricular cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
negative regulation of delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
negative regulation of delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
negative regulation of protein targeting to membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
positive regulation of potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
potassium ion export across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
potassium ion export across plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
regulation of delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
regulation of heart rate by cardiac conduction IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
regulation of heart rate by cardiac conduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
regulation of potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
regulation of ventricular cardiac muscle cell membrane repolarization IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
regulation of ventricular cardiac muscle cell membrane repolarization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
sensory perception of sound TAS
Traceable Author Statement
more info
 PubMed 
ventricular cardiac muscle cell action potential IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
ventricular cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
Z disc ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
lysosome HDA PubMed 
membrane raft IEA
Inferred from Electronic Annotation
more info
  
plasma membrane HDA PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
plasma membrane TAS
Traceable Author Statement
more info
  
colocalizes_with voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
voltage-gated potassium channel complex IC
Inferred by Curator
more info
 PubMed 
voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
 PubMed 
colocalizes_with voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
potassium voltage-gated channel subfamily E member 1
Names
IKs producing slow voltage-gated potassium channel subunit beta Mink
cardiac delayed rectifier potassium channel protein
delayed rectifier potassium channel subunit IsK
minimal potassium channel
potassium channel, voltage gated subfamily E regulatory beta subunit 1
potassium voltage-gated channel, Isk-related family, member 1
potassium voltage-gated channel, Isk-related subfamily, member 1
voltage gated potassiun channel accessory subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009091.1 RefSeqGene

    Range
    4041..69628
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_290

mRNA and Protein(s)

  1. NM_000219.6 → NP_000210.2  potassium voltage-gated channel subfamily E member 1

    See identical proteins and their annotated locations for NP_000210.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is the longest transcript. All variants encode the same protein.
    Source sequence(s)
    AI720140, AP000324, BC046224, KC877871
    Consensus CDS
    CCDS13636.1
    UniProtKB/Swiss-Prot
    P15382
    UniProtKB/TrEMBL
    C7S316, Q6FHJ6
    Related
    ENSP00000382226.2, ENST00000399286.2
    Conserved Domains (1) summary
    pfam02060
    Location:2 → 126
    ISK_Channel; Slow voltage-gated potassium channel

  2. NM_001127668.3 → NP_001121140.1  potassium voltage-gated channel subfamily E member 1

    See identical proteins and their annotated locations for NP_001121140.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 2. All variants encode the same protein.
    Source sequence(s)
    AI720140, AP000324, BC036452, EU008568, KC877871
    Consensus CDS
    CCDS13636.1
    UniProtKB/Swiss-Prot
    P15382
    UniProtKB/TrEMBL
    A7LFK2, C7S316
    Related
    ENSP00000412498.1, ENST00000432085.5
    Conserved Domains (1) summary
    pfam02060
    Location:2 → 126
    ISK_Channel; Slow voltage-gated potassium channel

  3. NM_001127669.3 → NP_001121141.1  potassium voltage-gated channel subfamily E member 1

    See identical proteins and their annotated locations for NP_001121141.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 2. All variants encode the same protein.
    Source sequence(s)
    AI720140, AP000324, BC036452, EU008569, KC877871
    Consensus CDS
    CCDS13636.1
    UniProtKB/Swiss-Prot
    P15382
    UniProtKB/TrEMBL
    A7LFK2, C7S316
    Related
    ENSP00000382228.3, ENST00000399289.7
    Conserved Domains (1) summary
    pfam02060
    Location:2 → 126
    ISK_Channel; Slow voltage-gated potassium channel

  4. NM_001127670.3 → NP_001121142.1  potassium voltage-gated channel subfamily E member 1

    See identical proteins and their annotated locations for NP_001121142.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR, compared to variant 2. All variants encode the same protein.
    Source sequence(s)
    AI720140, AP000324, EU008570, KC877871
    Consensus CDS
    CCDS13636.1
    UniProtKB/Swiss-Prot
    P15382
    UniProtKB/TrEMBL
    A7LFK4, C7S316
    Related
    ENSP00000416258.2, ENST00000416357.6
    Conserved Domains (1) summary
    pfam02060
    Location:2 → 126
    ISK_Channel; Slow voltage-gated potassium channel

  5. NM_001270402.2 → NP_001257331.1  potassium voltage-gated channel subfamily E member 1

    See identical proteins and their annotated locations for NP_001257331.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 2. All variants encode the same protein.
    Source sequence(s)
    AI720140, AP000324, DA418828, DB233067, KC877871
    Consensus CDS
    CCDS13636.1
    UniProtKB/Swiss-Prot
    P15382
    UniProtKB/TrEMBL
    C7S316
    Related
    ENSP00000337255.3, ENST00000337385.7
    Conserved Domains (1) summary
    pfam02060
    Location:2 → 126
    ISK_Channel; Slow voltage-gated potassium channel

  6. NM_001270403.2 → NP_001257332.1  potassium voltage-gated channel subfamily E member 1

    See identical proteins and their annotated locations for NP_001257332.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, compared to variant 2. All variants encode the same protein.
    Source sequence(s)
    AI720140, AP000324, DB223354, DB230009, KC877871
    Consensus CDS
    CCDS13636.1
    UniProtKB/Swiss-Prot
    P15382
    UniProtKB/TrEMBL
    C7S316
    Related
    ENSP00000382225.1, ENST00000399284.1
    Conserved Domains (1) summary
    pfam02060
    Location:2 → 126
    ISK_Channel; Slow voltage-gated potassium channel

  7. NM_001270404.2 → NP_001257333.1  potassium voltage-gated channel subfamily E member 1

    See identical proteins and their annotated locations for NP_001257333.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 2. All variants encode the same protein.
    Source sequence(s)
    AI720140, AP000324, DA418828, DB214219, DB223354, KC877871
    Consensus CDS
    CCDS13636.1
    UniProtKB/Swiss-Prot
    P15382
    UniProtKB/TrEMBL
    C7S316
    Related
    ENSP00000478215.1, ENST00000611936.1
    Conserved Domains (1) summary
    pfam02060
    Location:2 → 126
    ISK_Channel; Slow voltage-gated potassium channel

  8. NM_001270405.2 → NP_001257334.1  potassium voltage-gated channel subfamily E member 1

    See identical proteins and their annotated locations for NP_001257334.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR, compared to variant 2. All variants encode the same protein.
    Source sequence(s)
    AI720140, AP000324, DA806205, KC877871
    Consensus CDS
    CCDS13636.1
    UniProtKB/Swiss-Prot
    P15382
    UniProtKB/TrEMBL
    C7S316
    Related
    ENSP00000483895.1, ENST00000621601.4
    Conserved Domains (1) summary
    pfam02060
    Location:2 → 126
    ISK_Channel; Slow voltage-gated potassium channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p12 Primary Assembly

    Range
    34446688..34512275 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028342.1 → XP_016883831.1  potassium voltage-gated channel subfamily E member 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P15382.1 GenPept UniProtKB/Swiss-Prot:P15382

Gene LinkOut

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