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FLASH GENE
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 21q22.2      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
    DNA
    TYPE functioning gene
    STRUCTURE 64.63 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    motif
    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
    Physical map
    IL10RB 21q22.1-q22.2 interleukin 10 receptor, beta IFNAR1 21q22.1 interferon (alpha, beta and omega) receptor 1 IFNGR2 21q22.1 interferon gamma receptor 2 (interferon gamma transducer 1) C21orf4 21q22.1-q22.2 chromosome 21 open reading frame 4 RPS5L 21q22.11 ribosomal protein S5-like C21orf55 21q22.11 chromosome 21 open reading frame 55 GART 21q22.1 phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase SON 21q22.1-q22.2 SON DNA binding protein DONSON 21q22.1 downstream neighbor of SON CRYZL1 21q22.1 crystallin, zeta (quinone reductase)-like 1 ITSN1 21q22.1-q22.2 intersectin 1 (SH3 domain protein) ATP5O 21q22.1-q22.2 ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (oligomycin sensitivity conferring protein) LOC388819 21 similar to GNGT1 protein MRPS6 21q21.3-q22.1 mitochondrial ribosomal protein S6 SLC5A3 21q22.1 solute carrier family 5 (inositol transporters), member 3 C21orf82 21q22.1 chromosome 21 open reading frame 82 KCNE2 21q22.12 potassium voltage-gated channel, Isk-related family, member 2 C21orf51 21q22.12 chromosome 21 open reading frame 51 LOC388820 21 hypothetical gene supported by BC049386 KCNE1 21q22.2 potassium voltage-gated channel, Isk-related family, member 1 DSCR1 21q22.1-q22.2 Down syndrome critical region gene 1 CLIC6 21q22.12 chloride intracellular channel 6 RUNX1 21q22.1-q22.3 runt-related transcription factor 1 (acute myeloid leukemia 1; AML1 oncogene) C21orf96 21q22.12 chromosome 21 open reading frame 96 RPL34P3 21q22.12 ribosomal protein L34 pseudogene 3
    RNA
    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
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveintestinesmall intestine   
     pharynx   moderately
    Nervousnerve   highly
    Reproductivefemale systemovary   
     male systemtestis   
    Respiratorylung    
     respiratory tracttrachea  predominantly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoietic    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text apical surface of vestibular dark cells
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two N-linked glycosylation sites
  • a single transmembrane segment (1TM)
  • consensus sequences for two protein kinase C-mediated phosphorylation sites
  • distal C-terminus interacts with the coiled-coil helix C of KCNQ1 tetramerization domain
  • 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
    HOMOLOGY
    interspecies homolog to rattus Kcne1 (78 pc)
    homolog to murine Kcne1 (77.2 pc)
    Homologene
    FAMILY
  • potassium channel KCNE family
  • Isk-related subfamily (IRK)
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,lysosome
    text
  • 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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text potassium transport
    PATHWAY
    metabolism
    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)
  • INTERACTION
    DNA
    RNA
    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
  • 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)
  • cell & other
    REGULATION
    Other a macromolecular complex including PRKARZA,PPP1CA and AKAP9
    ASSOCIATED DISORDERS
    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
    Susceptibility
  • to QT prolongation and risk of arrhythmia or sudden death
  • 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
  • Candidate gene
  • physical inteeraction between KCNQ1 and KCNE1 is potentially affected in some LQTS mutations
  • Marker
    Therapy target
    ANIMAL & CELL MODELS