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P15382

- KCNE1_HUMAN

UniProt

P15382 - KCNE1_HUMAN

Protein

Potassium voltage-gated channel subfamily E member 1

Gene

KCNE1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. Functioni

    Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNQ1/KVLQT1 is proposed to form the slowly activating delayed rectifier cardiac potassium (IKs) channel. The outward current reaches its steady state only after 50 seconds. Assembled with KCNH2/HERG may modulate the rapidly activating component of the delayed rectifying potassium current in heart (IKr).

    GO - Molecular functioni

    1. delayed rectifier potassium channel activity Source: Ensembl
    2. potassium channel regulator activity Source: BHF-UCL
    3. protein binding Source: IntAct
    4. telethonin binding Source: BHF-UCL

    GO - Biological processi

    1. cardiac muscle cell action potential involved in contraction Source: BHF-UCL
    2. cellular response to acidic pH Source: Ensembl
    3. cellular response to cAMP Source: BHF-UCL
    4. epithelial cell maturation Source: Ensembl
    5. heart contraction Source: Ensembl
    6. male gonad development Source: Ensembl
    7. membrane repolarization Source: BHF-UCL
    8. membrane repolarization during action potential Source: BHF-UCL
    9. membrane repolarization during cardiac muscle cell action potential Source: BHF-UCL
    10. negative regulation of protein targeting to membrane Source: Ensembl
    11. positive regulation of potassium ion transmembrane transport Source: BHF-UCL
    12. potassium ion export Source: BHF-UCL
    13. potassium ion transmembrane transport Source: BHF-UCL
    14. protein N-linked glycosylation Source: UniProtKB
    15. protein O-linked glycosylation Source: UniProtKB
    16. regulation of delayed rectifier potassium channel activity Source: BHF-UCL
    17. regulation of heart rate by cardiac conduction Source: BHF-UCL
    18. regulation of potassium ion transmembrane transport Source: BHF-UCL
    19. regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL
    20. sensory perception of sound Source: ProtInc
    21. ventricular cardiac muscle cell action potential Source: BHF-UCL

    Keywords - Molecular functioni

    Ion channel, Potassium channel, Voltage-gated channel

    Keywords - Biological processi

    Ion transport, Potassium transport, Transport

    Keywords - Ligandi

    Potassium

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Potassium voltage-gated channel subfamily E member 1
    Alternative name(s):
    Delayed rectifier potassium channel subunit IsK
    IKs producing slow voltage-gated potassium channel subunit beta Mink
    Minimal potassium channel
    Gene namesi
    Name:KCNE1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 21

    Organism-specific databases

    HGNCiHGNC:6240. KCNE1.

    Subcellular locationi

    GO - Cellular componenti

    1. apical plasma membrane Source: Ensembl
    2. cell surface Source: BHF-UCL
    3. endoplasmic reticulum Source: Ensembl
    4. lysosome Source: UniProtKB
    5. plasma membrane Source: UniProtKB
    6. voltage-gated potassium channel complex Source: BHF-UCL
    7. Z disc Source: BHF-UCL

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Jervell and Lange-Nielsen syndrome 2 (JLNS2) [MIM:612347]: An autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71T → I in JLNS2; impairs glycosylation at N-5. 1 Publication
    Corresponds to variant rs28933384 [ dbSNP | Ensembl ].
    VAR_008897
    Natural varianti47 – 471V → F in JLNS2. 1 Publication
    VAR_008898
    Natural varianti51 – 511L → H in JLNS2. 1 Publication
    VAR_008899
    Natural varianti58 – 592TL → PP in JLNS2.
    VAR_001559
    Natural varianti76 – 761D → N in LQT5 and JLNS2; suppresses KCNQ1 currents markedly. 4 Publications
    VAR_008901
    Long QT syndrome 5 (LQT5) [MIM:613695]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti32 – 321R → H in LQT5; uncertain pathological significance. 2 Publications
    Corresponds to variant rs17857111 [ dbSNP | Ensembl ].
    VAR_009906
    Natural varianti74 – 741S → L in LQT5. 1 Publication
    VAR_008900
    Natural varianti76 – 761D → N in LQT5 and JLNS2; suppresses KCNQ1 currents markedly. 4 Publications
    VAR_008901
    Natural varianti85 – 851D → N Predisposes to acquired LQT5 susceptibility; shows a significant difference in current density and midpoint potential compared to the wild-type channel. 3 Publications
    Corresponds to variant rs1805128 [ dbSNP | Ensembl ].
    VAR_008902
    Natural varianti87 – 871W → R in LQT5. 1 Publication
    VAR_008903
    Natural varianti98 – 981R → W in LQT5. 1 Publication
    VAR_009907
    Natural varianti109 – 1091V → I in LQT5; mild phenotype; significantly reduced the wild-type I(KS) current amplitude. 1 Publication
    VAR_012802
    Natural varianti127 – 1271P → T in LQT5. 1 Publication
    VAR_009908

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi5 – 51N → Q: No measurable effect on assembly with KCNQ1 or cell surface expression of the KCNE1/KCNQ1 channel complex, and loss of glycosylation at N-5; when associated with T-28. 1 Publication
    Mutagenesisi6 – 61T → F: No measurable effect on assembly with KCNQ1 or cell surface expression of the KCNE1/KCNQ1 channel complex. Loss of glycosylation at T-7. 1 Publication
    Mutagenesisi7 – 71T → A: 50% reduction of cell surface expression of the KCNE1/KCNQ1 channel complex, and loss of glycosylation at N-5 and T-7; when associated with T-28. 1 Publication
    Mutagenesisi28 – 281S → T: No measurable effect on assembly with KCNQ1 or cell surface expression of the KCNE1/KCNQ1 channel complex, and loss of glycosylation at N-5; when associated with Q-5. 50% reduction of cell surface expression of the KCNE1/KCNQ1 channel complex, and loss of glycosylation at N-5 and T-7; when associated with A-7. 1 Publication
    Mutagenesisi69 – 691K → H: Lowers current 2-fold and leads to faster deactivation of KCNQ1/KCNE1 channel. 1 Publication

    Keywords - Diseasei

    Deafness, Disease mutation, Long QT syndrome

    Organism-specific databases

    MIMi612347. phenotype.
    613695. phenotype.
    Orphaneti334. Familial atrial fibrillation.
    90647. Jervell and Lange-Nielsen syndrome.
    101016. Romano-Ward syndrome.
    PharmGKBiPA211.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 129129Potassium voltage-gated channel subfamily E member 1PRO_0000144278Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi5 – 51N-linked (GlcNAc...)2 Publications
    Glycosylationi7 – 71O-linked (GalNAc...)1 Publication
    Glycosylationi26 – 261N-linked (GlcNAc...)1 Publication
    Modified residuei102 – 1021Phosphoserine; by PKCBy similarity

    Post-translational modificationi

    Phosphorylation inhibits the potassium current.By similarity
    N-glycosylation at Asn-26 occurs post-translationally, and requires prior cotranslational glycosylation at Asn-5.2 Publications

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    PaxDbiP15382.
    PRIDEiP15382.

    PTM databases

    PhosphoSiteiP15382.

    Expressioni

    Tissue specificityi

    Expressed in heart, lung, kidney, testis, ovaries, small intestine, peripheral blood leukocytes. Not detected in pancreas, spleen, prostate and colon. Restrictively localized in the apical membrane portion of epithelial cells.1 Publication

    Gene expression databases

    ArrayExpressiP15382.
    BgeeiP15382.
    CleanExiHS_KCNE1.
    GenevestigatoriP15382.

    Organism-specific databases

    HPAiHPA013752.

    Interactioni

    Subunit structurei

    Associates with KCNQ1/KVLQT1 and KCNH2/HERG.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    KCNQ1P517874EBI-7043557,EBI-359667
    TcapA6HIS03EBI-7043557,EBI-8784724From a different organism.

    Protein-protein interaction databases

    BioGridi109955. 3 interactions.
    IntActiP15382. 3 interactions.
    MINTiMINT-7297782.
    STRINGi9606.ENSP00000337255.

    Structurei

    Secondary structure

    1
    129
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi4 – 96
    Helixi13 – 2210
    Helixi30 – 323
    Helixi46 – 7126
    Turni77 – 815
    Turni84 – 863
    Helixi92 – 10514
    Beta strandi114 – 1163

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2K21NMR-A1-129[»]
    ProteinModelPortaliP15382.
    SMRiP15382. Positions 1-129.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP15382.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini67 – 12963CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei44 – 6623HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the potassium channel KCNE family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG41824.
    HOGENOMiHOG000113207.
    HOVERGENiHBG052226.
    InParanoidiP15382.
    KOiK04894.
    OMAiSYRACYV.
    OrthoDBiEOG7WMCMH.
    PhylomeDBiP15382.
    TreeFamiTF335976.

    Family and domain databases

    InterProiIPR000369. K_chnl_volt-dep_bsu_KCNE.
    IPR005424. K_chnl_volt-dep_bsu_KCNE1.
    [Graphical view]
    PANTHERiPTHR17028. PTHR17028. 1 hit.
    PfamiPF02060. ISK_Channel. 1 hit.
    [Graphical view]
    PRINTSiPR01604. KCNE1CHANNEL.
    PR00168. KCNECHANNEL.

    Sequencei

    Sequence statusi: Complete.

    P15382-1 [UniParc]FASTAAdd to Basket

    « Hide

    MILSNTTAVT PFLTKLWQET VQQGGNMSGL ARRSPRSSDG KLEALYVLMV    50
    LGFFGFFTLG IMLSYIRSKK LEHSNDPFNV YIESDAWQEK DKAYVQARVL 100
    ESYRSCYVVE NHLAIEQPNT HLPETKPSP 129
    Length:129
    Mass (Da):14,675
    Last modified:April 1, 1990 - v1
    Checksum:i5442D70929D4E87E
    GO

    Sequence cautioni

    The sequence AAH36452.1 differs from that shown. Reason: Erroneous termination at position 106. Translated as Cys.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71T → I in JLNS2; impairs glycosylation at N-5. 1 Publication
    Corresponds to variant rs28933384 [ dbSNP | Ensembl ].
    VAR_008897
    Natural varianti32 – 321R → H in LQT5; uncertain pathological significance. 2 Publications
    Corresponds to variant rs17857111 [ dbSNP | Ensembl ].
    VAR_009906
    Natural varianti38 – 381S → G.3 Publications
    Corresponds to variant rs1805127 [ dbSNP | Ensembl ].
    VAR_001558
    Natural varianti47 – 471V → F in JLNS2. 1 Publication
    VAR_008898
    Natural varianti51 – 511L → H in JLNS2. 1 Publication
    VAR_008899
    Natural varianti52 – 521G → A.
    Corresponds to variant rs17173509 [ dbSNP | Ensembl ].
    VAR_048024
    Natural varianti58 – 592TL → PP in JLNS2.
    VAR_001559
    Natural varianti74 – 741S → L in LQT5. 1 Publication
    VAR_008900
    Natural varianti76 – 761D → N in LQT5 and JLNS2; suppresses KCNQ1 currents markedly. 4 Publications
    VAR_008901
    Natural varianti85 – 851D → N Predisposes to acquired LQT5 susceptibility; shows a significant difference in current density and midpoint potential compared to the wild-type channel. 3 Publications
    Corresponds to variant rs1805128 [ dbSNP | Ensembl ].
    VAR_008902
    Natural varianti87 – 871W → R in LQT5. 1 Publication
    VAR_008903
    Natural varianti98 – 981R → W in LQT5. 1 Publication
    VAR_009907
    Natural varianti109 – 1091V → I in LQT5; mild phenotype; significantly reduced the wild-type I(KS) current amplitude. 1 Publication
    VAR_012802
    Natural varianti127 – 1271P → T in LQT5. 1 Publication
    VAR_009908

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M26685 Genomic DNA. Translation: AAA36129.1.
    L33815 Genomic DNA. Translation: AAA63905.1.
    L28168 mRNA. Translation: AAA58418.1.
    AF135188 mRNA. Translation: AAD25096.1.
    DQ784803 Genomic DNA. Translation: ABQ01238.1.
    BC036452 mRNA. Translation: AAH36452.1. Sequence problems.
    CCDSiCCDS13636.1.
    PIRiA32447.
    RefSeqiNP_000210.2. NM_000219.5.
    NP_001121140.1. NM_001127668.3.
    NP_001121141.1. NM_001127669.3.
    NP_001121142.1. NM_001127670.3.
    NP_001257331.1. NM_001270402.2.
    NP_001257332.1. NM_001270403.2.
    NP_001257333.1. NM_001270404.2.
    NP_001257334.1. NM_001270405.2.
    UniGeneiHs.121495.
    Hs.745384.

    Genome annotation databases

    EnsembliENST00000337385; ENSP00000337255; ENSG00000180509.
    ENST00000399284; ENSP00000382225; ENSG00000180509.
    ENST00000399286; ENSP00000382226; ENSG00000180509.
    ENST00000399289; ENSP00000382228; ENSG00000180509.
    ENST00000416357; ENSP00000416258; ENSG00000180509.
    ENST00000432085; ENSP00000412498; ENSG00000180509.
    GeneIDi3753.
    KEGGihsa:3753.
    UCSCiuc002ytz.4. human.

    Polymorphism databases

    DMDMi116416.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M26685 Genomic DNA. Translation: AAA36129.1 .
    L33815 Genomic DNA. Translation: AAA63905.1 .
    L28168 mRNA. Translation: AAA58418.1 .
    AF135188 mRNA. Translation: AAD25096.1 .
    DQ784803 Genomic DNA. Translation: ABQ01238.1 .
    BC036452 mRNA. Translation: AAH36452.1 . Sequence problems.
    CCDSi CCDS13636.1.
    PIRi A32447.
    RefSeqi NP_000210.2. NM_000219.5.
    NP_001121140.1. NM_001127668.3.
    NP_001121141.1. NM_001127669.3.
    NP_001121142.1. NM_001127670.3.
    NP_001257331.1. NM_001270402.2.
    NP_001257332.1. NM_001270403.2.
    NP_001257333.1. NM_001270404.2.
    NP_001257334.1. NM_001270405.2.
    UniGenei Hs.121495.
    Hs.745384.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2K21 NMR - A 1-129 [» ]
    ProteinModelPortali P15382.
    SMRi P15382. Positions 1-129.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109955. 3 interactions.
    IntActi P15382. 3 interactions.
    MINTi MINT-7297782.
    STRINGi 9606.ENSP00000337255.

    Chemistry

    BindingDBi P15382.
    ChEMBLi CHEMBL2221347.
    DrugBanki DB00808. Indapamide.

    PTM databases

    PhosphoSitei P15382.

    Polymorphism databases

    DMDMi 116416.

    Proteomic databases

    PaxDbi P15382.
    PRIDEi P15382.

    Protocols and materials databases

    DNASUi 3753.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000337385 ; ENSP00000337255 ; ENSG00000180509 .
    ENST00000399284 ; ENSP00000382225 ; ENSG00000180509 .
    ENST00000399286 ; ENSP00000382226 ; ENSG00000180509 .
    ENST00000399289 ; ENSP00000382228 ; ENSG00000180509 .
    ENST00000416357 ; ENSP00000416258 ; ENSG00000180509 .
    ENST00000432085 ; ENSP00000412498 ; ENSG00000180509 .
    GeneIDi 3753.
    KEGGi hsa:3753.
    UCSCi uc002ytz.4. human.

    Organism-specific databases

    CTDi 3753.
    GeneCardsi GC21M035818.
    GeneReviewsi KCNE1.
    HGNCi HGNC:6240. KCNE1.
    HPAi HPA013752.
    MIMi 176261. gene.
    612347. phenotype.
    613695. phenotype.
    neXtProti NX_P15382.
    Orphaneti 334. Familial atrial fibrillation.
    90647. Jervell and Lange-Nielsen syndrome.
    101016. Romano-Ward syndrome.
    PharmGKBi PA211.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG41824.
    HOGENOMi HOG000113207.
    HOVERGENi HBG052226.
    InParanoidi P15382.
    KOi K04894.
    OMAi SYRACYV.
    OrthoDBi EOG7WMCMH.
    PhylomeDBi P15382.
    TreeFami TF335976.

    Miscellaneous databases

    EvolutionaryTracei P15382.
    GeneWikii KCNE1.
    GenomeRNAii 3753.
    NextBioi 14697.
    PROi P15382.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P15382.
    Bgeei P15382.
    CleanExi HS_KCNE1.
    Genevestigatori P15382.

    Family and domain databases

    InterProi IPR000369. K_chnl_volt-dep_bsu_KCNE.
    IPR005424. K_chnl_volt-dep_bsu_KCNE1.
    [Graphical view ]
    PANTHERi PTHR17028. PTHR17028. 1 hit.
    Pfami PF02060. ISK_Channel. 1 hit.
    [Graphical view ]
    PRINTSi PR01604. KCNE1CHANNEL.
    PR00168. KCNECHANNEL.
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and sequence analysis of human genomic DNA encoding a novel membrane protein which exhibits a slowly activating potassium channel activity."
      Murai T., Kakizuka A., Takumi T., Ohkubo H., Nakanishi S.
      Biochem. Biophys. Res. Commun. 161:176-181(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "Polymorphism of the gene encoding a human minimal potassium ion channel (minK)."
      Lai L.P., Deng C.L., Moss A.J., Kass R.S., Liang C.S.
      Gene 151:339-340(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT GLY-38.
      Tissue: Leukocyte.
    3. "Delayed rectifier potassium channel subunit from human cornea epithelium."
      Rae J.L.
      Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Cornea.
    4. NHLBI resequencing and genotyping service (RS&G)
      Submitted (JUN-2006) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS HIS-32 AND GLY-38.
      Tissue: Testis.
    6. "Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias."
      Chouabe C., Neyroud N., Guicheney P., Lazdunski M., Romey G., Barhanin J.
      EMBO J. 16:5472-5479(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    7. "A minK-HERG complex regulates the cardiac potassium current I(Kr)."
      McDonald T.V., Yu Z., Ming Z., Palma E., Meyers M.B., Wang K.-W., Goldstein S.A.N., Fishman G.I.
      Nature 388:289-292(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH KCNH2.
    8. "Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism."
      Abbott G.W., Goldstein S.A.N.
      FASEB J. 16:390-400(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: MUTAGENESIS OF LYS-69.
    9. "Post-translational N-glycosylation of type I transmembrane KCNE1 peptides: implications for membrane protein biogenesis and disease."
      Bas T., Gao G.Y., Lvov A., Chandrasekhar K.D., Gilmore R., Kobertz W.R.
      J. Biol. Chem. 286:28150-28159(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION AT ASN-5 AND ASN-26, CHARACTERIZATION OF VARIANT JLNS2 ILE-7.
    10. Cited for: GLYCOSYLATION AT ASN-5 AND THR-7, MUTAGENESIS OF ASN-5; THR-6; THR-7 AND SER-28.
    11. "Structure of KCNE1 and implications for how it modulates the KCNQ1 potassium channel."
      Kang C., Tian C., Soennichsen F.D., Smith J.A., Meiler J., George A.L. Jr., Vanoye C.G., Kim H.J., Sanders C.R.
      Biochemistry 47:7999-8006(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR.
    12. "Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange-Nielsen syndrome."
      Tesson F., Donger C., Denjoy I., Berthet M., Bennaceur M., Petit C., Coumel P., Schwartz K., Guicheney P.
      J. Mol. Cell. Cardiol. 28:2051-2055(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ASN-85.
    13. "IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome."
      Tyson J., Tranebjaerg L., Bellman S., Wren C., Taylor J.F.N., Bathen J., Aslaksen B., Soerland S.J., Lund O., Malcolm S., Pembrey M., Bhattacharya S., Bitner-Glindzicz M.
      Hum. Mol. Genet. 6:2179-2185(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT JLNS2 58-PRO-PRO-59.
    14. Cited for: VARIANTS JLNS2 ILE-7 AND ASN-76.
    15. "Mutations in the hminK gene cause long QT syndrome and suppress IKs function."
      Splawski I., Tristani-Firouzi M., Lehmann M.H., Sanguinetti M.C., Keating M.T.
      Nat. Genet. 17:338-340(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LQT5 LEU-74 AND ASN-76.
    16. "Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome."
      Duggal P., Vesely M.R., Wattanasirichaigoon D., Villafane J., Kaushik V., Beggs A.H.
      Circulation 97:142-146(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LQT5 ASN-76.
    17. "Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome."
      Bianchi L., Shen Z., Dennis A.T., Priori S.G., Napolitano C., Ronchetti E., Bryskin R., Schwartz P.J., Brown A.M.
      Hum. Mol. Genet. 8:1499-1507(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS JLNS2 PHE-47; HIS-51 AND ASN-76, VARIANT LQT5 ARG-87.
    18. Cited for: VARIANTS LQT5 HIS-32; TRP-98 AND THR-127.
    19. "A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype."
      Schulze-Bahr E., Schwarz M., Hauenschild S., Wedekind H., Funke H., Haverkamp W., Breithardt W., Pongs O., Isbrandt D., Breithardt G.
      J. Mol. Med. 79:504-509(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LQT5 ILE-109.
    20. "Compound mutations: a common cause of severe long-QT syndrome."
      Westenskow P., Splawski I., Timothy K.W., Keating M.T., Sanguinetti M.C.
      Circulation 109:1834-1841(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ASN-85.
    21. "The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss."
      Van Laer L., Carlsson P.-I., Ottschytsch N., Bondeson M.-L., Konings A., Vandevelde A., Dieltjens N., Fransen E., Snyders D., Borg E., Raes A., Van Camp G.
      Hum. Mutat. 27:786-795(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLY-38 AND ASN-85, CHARACTERIZATION OF VARIANT ASN-85.

    Entry informationi

    Entry nameiKCNE1_HUMAN
    AccessioniPrimary (citable) accession number: P15382
    Secondary accession number(s): A5H1P2, Q8N709, Q91Z94
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 1, 1990
    Last sequence update: April 1, 1990
    Last modified: October 1, 2014
    This is version 157 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 21
      Human chromosome 21: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3