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

Gene ID: 3753, updated on 7-Sep-2023

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; AllianceGenome:HGNC:6240
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
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Genomic context

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See KCNE1 in Genome Data Viewer
Location:
21q22.12
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (34446688..34512210, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (32829243..32898958, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (35818986..35884508, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene salivary glue protein Sgs-3 Neighboring gene chromosome 21 open reading frame 140 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:35788990-35790189 Neighboring gene NANOG hESC enhancer GRCh37_chr21:35802003-35802504 Neighboring gene small integral membrane protein 34 Neighboring gene NANOG hESC enhancer GRCh37_chr21:35825641-35826142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35827602-35828102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35828103-35828603 Neighboring gene small nucleolar RNA SNORA11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35831243-35832104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35832105-35832965 Neighboring gene VISTA enhancer hs2084 Neighboring gene regulator of calcineurin 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35954416-35954916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35954917-35955417 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. Genetic predictors of sick sinus syndrome. Timasheva Y, et al. Mol Biol Rep, 2021 Jun. PMID 34195885
  2. Development of a Patient-Specific p.D85N-Potassium Voltage-Gated Channel Subfamily E Member 1-Induced Pluripotent Stem Cell-Derived Cardiomyocyte Model for Drug-Induced Long QT Syndrome. Kim M, et al. Circ Genom Precis Med, 2021 Jun. PMID 34003017
  3. The rs2236609 Polymorphism Is Related to Increased Risk Susceptibility of Atrial Fibrillation. Alzoughool F, et al. Public Health Genomics, 2020. PMID 32316011
  4. Variations in the potassium voltage-gated channel subfamily E regulatory subunit 1 gene associated with noise-induced hearing loss in the Chinese population. Ding E, et al. Environ Sci Pollut Res Int, 2020 May. PMID 32207011
  5. Clinical and functional reappraisal of alleged type 5 long QT syndrome: Causative genetic variants in the KCNE1-encoded minK β-subunit. Garmany R, et al. Heart Rhythm, 2020 Jun. PMID 32058015

See all (235) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PKC-isoform specific regulation of receptor desensitization and KCNQ1/KCNE1 K(+) channel activity by mutant alpha1B-adrenergic receptors.
    Title: PKC-isoform specific regulation of receptor desensitization and KCNQ1/KCNE1 K(+) channel activity by mutant α(1B)-adrenergic receptors.
  2. Common Variants in KCNE1, KCNH2, and SCN5A May Impact Cardiac Arrhythmia Risk.
    Title: Common Variants in KCNE1, KCNH2, and SCN5A May Impact Cardiac Arrhythmia Risk.
  3. Development of a Patient-Specific p.D85N-Potassium Voltage-Gated Channel Subfamily E Member 1-Induced Pluripotent Stem Cell-Derived Cardiomyocyte Model for Drug-Induced Long QT Syndrome.
    Title: Development of a Patient-Specific p.D85N-Potassium Voltage-Gated Channel Subfamily E Member 1-Induced Pluripotent Stem Cell-Derived Cardiomyocyte Model for Drug-Induced Long QT Syndrome.
  4. Genetic predictors of sick sinus syndrome.
    Title: Genetic predictors of sick sinus syndrome.
  5. A general mechanism of KCNE1 modulation of KCNQ1 channels involving non-canonical VSD-PD coupling.
    Title: A general mechanism of KCNE1 modulation of KCNQ1 channels involving non-canonical VSD-PD coupling.
  6. Association Analysis of Candidate Gene Polymorphisms and Tinnitus in Young Musicians.
    Title: Association Analysis of Candidate Gene Polymorphisms and Tinnitus in Young Musicians.
  7. KCNE1 is an auxiliary subunit of two distinct ion channel superfamilies.
    Title: KCNE1 is an auxiliary subunit of two distinct ion channel superfamilies.
  8. Elevation of propofol sensitivity of cardiac IKs channel by KCNE1 polymorphism D85N.
    Title: Elevation of propofol sensitivity of cardiac I(Ks) channel by KCNE1 polymorphism D85N.
  9. Clinical and functional reappraisal of alleged type 5 long QT syndrome: Causative genetic variants in the KCNE1-encoded minK beta-subunit.
    Title: Clinical and functional reappraisal of alleged type 5 long QT syndrome: Causative genetic variants in the KCNE1-encoded minK β-subunit.
  10. Functional phenotype variations of two novel KV 7.1 mutations identified in patients with Long QT syndrome.
    Title: Functional phenotype variations of two novel K(V) 7.1 mutations identified in patients with Long QT syndrome.
Submit: New GeneRIF Correction See all GeneRIFs (159)

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

EBI GWAS Catalog

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

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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 
contributes_to delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables potassium channel regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables potassium channel regulator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
  
enables telethonin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transmembrane transporter binding IBA
Inferred from Biological aspect of Ancestor
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
involved_in cardiac muscle cell action potential involved in contraction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cellular response to acidic pH IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to cAMP IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to light stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in epithelial cell maturation IEA
Inferred from Electronic Annotation
more info
  
involved_in male gonad development IEA
Inferred from Electronic Annotation
more info
  
involved_in membrane repolarization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in membrane repolarization during action potential IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in membrane repolarization during action potential IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in membrane repolarization during cardiac muscle cell action potential IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in membrane repolarization during cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in membrane repolarization during ventricular cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in negative regulation of delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of protein targeting to membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in potassium ion export across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in potassium ion export across plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of heart rate by cardiac conduction IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in regulation of heart rate by cardiac conduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of ventricular cardiac muscle cell membrane repolarization IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in regulation of ventricular cardiac muscle cell membrane repolarization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in secretory granule organization IEA
Inferred from Electronic Annotation
more info
  
involved_in sensory perception of sound TAS
Traceable Author Statement
more info
 PubMed 
involved_in ventricular cardiac muscle cell action potential IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in ventricular cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in vestibular nucleus development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Z disc ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
located_in lysosome HDA PubMed 
located_in membrane raft IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane HDA PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of voltage-gated potassium channel complex IC
Inferred by Curator
more info
 PubMed 
part_of 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
Long QT syndrome 5
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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NEW Try the new Transcript table

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
    A5H1P2, P15382, Q8N709, Q91Z94
    UniProtKB/TrEMBL
    C7S316, Q6FHJ6
    Related
    ENSP00000382226.2, ENST00000399286.3
    Conserved Domains (1) summary
    pfam02060
    Location:2 → 126
    ISK_Channel; Slow voltage-gated potassium channel

  2. NM_001127668.4 → 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
    A5H1P2, P15382, Q8N709, Q91Z94
    UniProtKB/TrEMBL
    A7LFK2, C7S316, Q6FHJ6
    Related
    ENSP00000412498.1, ENST00000432085.5
    Conserved Domains (1) summary
    pfam02060
    Location:2 → 126
    ISK_Channel; Slow voltage-gated potassium channel

  3. NM_001127669.4 → 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
    A5H1P2, P15382, Q8N709, Q91Z94
    UniProtKB/TrEMBL
    A7LFK2, C7S316, Q6FHJ6
    Related
    ENSP00000382228.3, ENST00000399289.7
    Conserved Domains (1) summary
    pfam02060
    Location:2 → 126
    ISK_Channel; Slow voltage-gated potassium channel

  4. NM_001127670.4 → 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
    A5H1P2, P15382, Q8N709, Q91Z94
    UniProtKB/TrEMBL
    A7LFK4, C7S316, Q6FHJ6
    Related
    ENSP00000416258.2, ENST00000416357.6
    Conserved Domains (1) summary
    pfam02060
    Location:2 → 126
    ISK_Channel; Slow voltage-gated potassium channel

  5. NM_001270402.3 → 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
    A5H1P2, P15382, Q8N709, Q91Z94
    UniProtKB/TrEMBL
    C7S316, Q6FHJ6
    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
    A5H1P2, P15382, Q8N709, Q91Z94
    UniProtKB/TrEMBL
    C7S316, Q6FHJ6
    Related
    ENSP00000382225.1, ENST00000399284.1
    Conserved Domains (1) summary
    pfam02060
    Location:2 → 126
    ISK_Channel; Slow voltage-gated potassium channel

  7. NM_001270404.3 → 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, DB214219, DB223354, KC877871
    Consensus CDS
    CCDS13636.1
    UniProtKB/Swiss-Prot
    A5H1P2, P15382, Q8N709, Q91Z94
    UniProtKB/TrEMBL
    C7S316, Q6FHJ6
    Related
    ENSP00000478215.1, ENST00000611936.1
    Conserved Domains (1) summary
    pfam02060
    Location:2 → 126
    ISK_Channel; Slow voltage-gated potassium channel

  8. NM_001270405.3 → 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
    A5H1P2, P15382, Q8N709, Q91Z94
    UniProtKB/TrEMBL
    C7S316, Q6FHJ6
    Related
    ENSP00000483895.1, ENST00000621601.4
    Conserved Domains (1) summary
    pfam02060
    Location:2 → 126
    ISK_Channel; Slow voltage-gated potassium channel

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    34446688..34512210 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047440764.1 → XP_047296720.1  potassium voltage-gated channel subfamily E member 1 isoform X1

    UniProtKB/TrEMBL
    Q6FHJ6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    32829243..32898958 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324469.1 → XP_054180444.1  potassium voltage-gated channel subfamily E member 1 isoform X1

    UniProtKB/TrEMBL
    Q6FHJ6
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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