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Symbol KCNE1 contributors: mct/npt/pgu - updated : 26-04-2017
HGNC name potassium voltage-gated channel, Isk-related family, member 1
HGNC id 6240
Corresponding disease
JLNS2 Jervell-Lange-Nielsen 2
LQT5 long QT syndrome with ventricular tachyarrhythmia, type 5
Location 21q22.12      Physical location : 35.818.988 - 35.883.613
Synonym name
  • cardiac delayed rectifier potassium channel protein
  • long QT syndrome 2/5
  • IKs producing slow voltage-gated potassium channel subunit beta Mink
  • Synonym symbol(s) ISK, MINK, JLNS, LQT5, JLNS2, MGC33114, FLJ18426, FLJ38123, FLJ94103
    TYPE functioning gene
    STRUCTURE 65.59 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • 2 distinct promoters for KCNE1a and KCNE1b
  • promoter elements in the KCNE1 5'-end, particularly GATA binding sites, may be important in tissue, disease and species-related transcriptional regulation of slow delayed-rectifier potassium current (I(Ks))
  • MAPPING cloned Y linked N status confirmed
    Map see AML1 ,SOD1
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 3338 - 129 - 2006 16303284
    3 - 3199 - 129 - 2006 16303284
    3 - 3171 - 129 - 2006 16303284
    2 - 3392 - 129 - 2006 16303284
    2 - 3239 - 129 - 2006 16303284
    3 - 3350 - 129 - 2006 16303284
    3 - 3298 - 129 - 2006 16303284
    3 - 3151 - 129 - 2006 16303284
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
     pharynx   moderately
    Nervousnerve   highly
    Reproductivefemale systemovary   
     male systemtestis   
     respiratory tracttrachea  predominantly
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoietic    
    SystemCellPubmedSpeciesStageRna symbol
    cell lineage
    cell lines
    at STAGE
    physiological period embryo
    Text apical surface of vestibular dark cells
  • two N-linked glycosylation sites
  • consensus sequences for two protein kinase C-mediated phosphorylation sites
  • a transmembrane domain (TMD) of KCNE1 that plays a key role in mediating the physical association with KCNQ1 and in subsequent modulation of channel gating kinetics and conductance
  • distal C-terminus interacts with the coiled-coil helix C of KCNQ1 tetramerization domain , and KCNE1 C-terminus could modulate gating property of KCNQ1
  • secondary structure
  • transmembrane domain (TMD) is a curved alpha-helix and is flanked by intra- and extracellular domains comprised of alpha-helices joined by flexible linkers
  • conjugated GlycoP
    mono polymer heteromer , tetramer
    interspecies homolog to rattus Kcne1 (78 pc)
    homolog to murine Kcne1 (77.2 pc)
  • potassium channel KCNE family
  • Isk-related subfamily (IRK)
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
  • apical plasma membrane
  • single-pass type I membrane protein
  • basic FUNCTION
  • forming with KCNQ1 the slowly activating delayed rectifier cardiac potassium channel
  • acting as a potassium channel regulator
  • modulating the gating kinetics and enhancing stability of the channel complex
  • involved in blood circulation
  • playing a role in epithelial celle maturation
  • involved in muscle contraction
  • playing a role in heart contraction
  • modulating the function of KCNQ1 and certain other voltage-gated potassium channels (KV)
  • probably the major K(+)-channel involved in regulatory volume decrease in spermatozoa, and channel activity is regulated beyond the extent of protein expression
  • single-span membrane protein that modulates the voltage-gated potassium channel KCNQ1 by slowing activation and enhancing channel conductance to generate the slow delayed rectifier current critical for the repolarization phase of the cardiac action potential
  • KCNQ1 voltage-gated potassium channel and its auxiliary subunit KCNE1 play a crucial role in the regulation of the heartbeat
  • alters the voltage sensor movements necessary to open the KCNQ1 channel gate
  • functional role of KCNE cleavage in regulating voltage-gated potassium channels
  • in cardiac myocytes, KCNQ1/KCNE1 complexes are thought to give rise to the delayed rectifier current IKs, which contributes to cardiac action potential repolarization
    text potassium transport
    signaling sensory transduction/hearing
    a component
  • heterotetramer KCNQ1/KCNJ1
  • KCNQ1 and KCNE1 subunits coassemble to form the I(Ks) channel
  • directly associates with KCNE4, and can co-associate together with KCNE1 in the same KCNQ1 complex to form a 'triple subunit' complex (KCNE1-KCNQ1-KCNE4)
    small molecule metal binding,
  • K+
  • protein
  • associating with KCNQ1 to generate the slow delayed IKR channel
  • associating with KCNH2 (HERG) to modulate the rapid delayed rectifier IKJ channel central to the control of the heart rate and rhythm
  • interaction with KCNH2 (during biogenesis of channels KCNH2, is more likely to assemble with KCNE1 than KCNE2 due to distinctly different trafficking rates and retention in the cell rather than differences in relative affinity
  • protein-protein interaction between the KCNE1 C-terminal domain and the KCNQ1 S6 activation gate and S4-S5 linker
  • CTNNB1 enhanced the KCNE1/KCNQ1 protein abundance in the cell membrane
  • KCNQ1 channels in both the absence and the presence of KCNE1 undergo likely sequential gating transitions leading to channel opening even before all voltage sensor domains (VSDs)have moved
  • KCNQ1 is regulated by non-pore forming regulatory KCNE beta-subunits
  • KCNE1 and KCNE2 cleavages are regulated by BACE1 and PSEN1/gamma-secretase activities under physiological conditions
  • Klotho upregulates KCNQ1/KCNE1 channel activity by “mainly” enhancing channel protein abundance in the plasma cell membrane
  • conductance and dynamics of KCNQ1 could be modulated by different single transmembrane helical auxiliary proteins (such as KCNE1, KCNE2)
  • BACE1 modulates gating of KCNQ1 and cardiac delayed rectifier KCNQ1/KCNE1 (IKs)
  • STK39 and OXSR1 participate in the regulation of KCNQ1/KCNE1 protein abundance and activity
  • SGMS1 positively regulates KCNQ1/KCNE1 channel density in a protein kinase D-dependent manner
  • KCNQ1/KCNE1 channel does not require INPP5J or PI(4)P for anterograde trafficking, but is heavily reliant on INPP5J for channel function once at the plasma membrane (PM)
  • cell & other
    Other a macromolecular complex including PRKARZA,PPP1CA and AKAP9
    corresponding disease(s) JLNS2 , LQT5
    related resource Long QT Syndrome Database
    Congenital Long QT Syndrome at GeneDis
    Gene Connection for the Heart - Long QT Syndrome database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in mild-to-moderate chronic heart failure, contribute to the preferential prolongation of QT interval through reducing the net outward current during the plateau of the action potential
  • to QT prolongation and risk of arrhythmia or sudden death
  • to Ménière disease
  • Variant & Polymorphism SNP
  • G38S or D85N variant is involved in determining QT prolongation
  • rs2283222 located in intron 11 in KCNQ1 remained significantly associated with sudden/arrhythmic death
  • rs1805127, rs1805128, and rs17173510, in KCNE1 were found in patients with Ménière disease
  • Candidate gene
  • physical inteeraction between KCNQ1 and KCNE1 is potentially affected in some LQTS mutations
  • Marker
    Therapy target