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

    Gene ID: 3753, updated on 9-Apr-2017
    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; Vega:OTTHUMG00000086236
    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]
    Orthologs
    Location:
    21q22.12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 chromosome 21 open reading frame 140 Neighboring gene putative uncharacterized protein LOC388820 Neighboring gene uncharacterized LOC105372792 Neighboring gene regulator of calcineurin 1 Neighboring gene chloride intracellular channel 6

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ18426, FLJ38123, FLJ94103, MGC33114

    Gene Ontology Provided by GOA

    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 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 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    potassium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein N-linked glycosylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein O-linked glycosylation 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 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 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 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane raft IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    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 
    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

    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_000219.5NP_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, OTTHUMP00000108624, ENST00000399286.2, OTTHUMT00000194152
      Conserved Domains (1) summary
      pfam02060
      Location:2126
      ISK_Channel; Slow voltage-gated potassium channel
    2. NM_001127668.3NP_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:2126
      ISK_Channel; Slow voltage-gated potassium channel
    3. NM_001127669.3NP_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, OTTHUMP00000108623, ENST00000399289.7, OTTHUMT00000194151
      Conserved Domains (1) summary
      pfam02060
      Location:2126
      ISK_Channel; Slow voltage-gated potassium channel
    4. NM_001127670.3NP_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, OTTHUMP00000108625, ENST00000416357.6, OTTHUMT00000194153
      Conserved Domains (1) summary
      pfam02060
      Location:2126
      ISK_Channel; Slow voltage-gated potassium channel
    5. NM_001270402.2NP_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:2126
      ISK_Channel; Slow voltage-gated potassium channel
    6. NM_001270403.2NP_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, OTTHUMP00000108626, ENST00000399284.1, OTTHUMT00000194155
      Conserved Domains (1) summary
      pfam02060
      Location:2126
      ISK_Channel; Slow voltage-gated potassium channel
    7. NM_001270404.2NP_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:2126
      ISK_Channel; Slow voltage-gated potassium channel
    8. NM_001270405.2NP_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:2126
      ISK_Channel; Slow voltage-gated potassium channel

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018932.2 Alternate CHM1_1.1

      Range
      35381239..35446817 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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