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Q9Y6H6

- KCNE3_HUMAN

UniProt

Q9Y6H6 - KCNE3_HUMAN

Protein

Potassium voltage-gated channel subfamily E member 3

Gene

KCNE3

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. Associated with KCNC4/Kv3.4 is proposed to form the subthreshold voltage-gated potassium channel in skeletal muscle and to establish the resting membrane potential (RMP) in muscle cells. Associated with KCNQ1/KCLQT1 may form the intestinal cAMP-stimulated potassium channel involved in chloride secretion.

    GO - Molecular functioni

    1. potassium channel regulator activity Source: Ensembl
    2. voltage-gated potassium channel activity Source: InterPro

    GO - Biological processi

    1. regulation of potassium ion transport Source: Ensembl

    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 3
    Alternative name(s):
    MinK-related peptide 2
    Minimum potassium ion channel-related peptide 2
    Potassium channel subunit beta MiRP2
    Gene namesi
    Name:KCNE3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:6243. KCNE3.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Brugada syndrome 6 (BRGDA6) [MIM:613119]: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti99 – 991R → H in BRGDA6; also in a patient suffering from drug-induced torsades de pointes. 2 Publications
    Corresponds to variant rs121908441 [ dbSNP | Ensembl ].
    VAR_058637

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi90 – 901D → N: Decreases current 4-fold in KCNH2/KCNE3 channel. 1 Publication

    Keywords - Diseasei

    Brugada syndrome, Disease mutation

    Organism-specific databases

    MIMi613119. phenotype.
    Orphaneti130. Brugada syndrome.
    681. Hypokalemic periodic paralysis.
    PharmGKBiPA393.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 103103Potassium voltage-gated channel subfamily E member 3PRO_0000144289Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi5 – 51N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi22 – 221N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi41 – 411N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9Y6H6.
    PRIDEiQ9Y6H6.

    Expressioni

    Tissue specificityi

    Widely expressed with highest levels in kidney and moderate levels in small intestine.1 Publication

    Gene expression databases

    ArrayExpressiQ9Y6H6.
    BgeeiQ9Y6H6.
    CleanExiHS_KCNE3.
    GenevestigatoriQ9Y6H6.

    Organism-specific databases

    HPAiHPA014849.

    Interactioni

    Subunit structurei

    Associates with KCNC4/Kv3.4. May associate with KCNQ1/KCLQT1.

    Protein-protein interaction databases

    BioGridi115326. 10 interactions.
    IntActiQ9Y6H6. 10 interactions.
    MINTiMINT-8247512.
    STRINGi9606.ENSP00000310557.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y6H6.
    SMRiQ9Y6H6. Positions 40-99.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini79 – 10325CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei58 – 7821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the potassium channel KCNE family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG42036.
    HOGENOMiHOG000113209.
    HOVERGENiHBG052228.
    InParanoidiQ9Y6H6.
    KOiK04897.
    OMAiAYMYILF.
    PhylomeDBiQ9Y6H6.
    TreeFamiTF335981.

    Family and domain databases

    InterProiIPR000369. K_chnl_volt-dep_bsu_KCNE.
    IPR005426. K_chnl_volt-dep_bsu_KCNE3.
    [Graphical view]
    PfamiPF02060. ISK_Channel. 1 hit.
    [Graphical view]
    PRINTSiPR01606. KCNE3CHANNEL.
    PR00168. KCNECHANNEL.

    Sequencei

    Sequence statusi: Complete.

    Q9Y6H6-1 [UniParc]FASTAAdd to Basket

    « Hide

    METTNGTETW YESLHAVLKA LNATLHSNLL CRPGPGLGPD NQTEERRASL    50
    PGRDDNSYMY ILFVMFLFAV TVGSLILGYT RSRKVDKRSD PYHVYIKNRV 100
    SMI 103
    Length:103
    Mass (Da):11,710
    Last modified:November 1, 1999 - v1
    Checksum:i5235385E8D08BF10
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti4 – 41T → A.1 Publication
    Corresponds to variant rs200856070 [ dbSNP | Ensembl ].
    VAR_058635
    Natural varianti39 – 391P → R.1 Publication
    Corresponds to variant rs34604640 [ dbSNP | Ensembl ].
    VAR_058636
    Natural varianti83 – 831R → H in some patients with periodic paralysis; unknown pathological significance; alters voltage dependence, lowers current and diminishes open probability in KCNC4/KCNE3 channel; lowers current in KCNQ1/KCNE3 channel. 2 Publications
    Corresponds to variant rs17215437 [ dbSNP | Ensembl ].
    VAR_015064
    Natural varianti99 – 991R → H in BRGDA6; also in a patient suffering from drug-induced torsades de pointes. 2 Publications
    Corresponds to variant rs121908441 [ dbSNP | Ensembl ].
    VAR_058637

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF076531 mRNA. Translation: AAD28089.1.
    AF302494 mRNA. Translation: AAG16255.1.
    BC032235 mRNA. No translation available.
    CCDSiCCDS8232.1.
    RefSeqiNP_005463.1. NM_005472.4.
    UniGeneiHs.523899.

    Genome annotation databases

    EnsembliENST00000310128; ENSP00000310557; ENSG00000175538.
    ENST00000525550; ENSP00000433633; ENSG00000175538.
    GeneIDi10008.
    KEGGihsa:10008.
    UCSCiuc001ovc.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF076531 mRNA. Translation: AAD28089.1 .
    AF302494 mRNA. Translation: AAG16255.1 .
    BC032235 mRNA. No translation available.
    CCDSi CCDS8232.1.
    RefSeqi NP_005463.1. NM_005472.4.
    UniGenei Hs.523899.

    3D structure databases

    ProteinModelPortali Q9Y6H6.
    SMRi Q9Y6H6. Positions 40-99.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115326. 10 interactions.
    IntActi Q9Y6H6. 10 interactions.
    MINTi MINT-8247512.
    STRINGi 9606.ENSP00000310557.

    Proteomic databases

    PaxDbi Q9Y6H6.
    PRIDEi Q9Y6H6.

    Protocols and materials databases

    DNASUi 10008.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000310128 ; ENSP00000310557 ; ENSG00000175538 .
    ENST00000525550 ; ENSP00000433633 ; ENSG00000175538 .
    GeneIDi 10008.
    KEGGi hsa:10008.
    UCSCi uc001ovc.3. human.

    Organism-specific databases

    CTDi 10008.
    GeneCardsi GC11M074165.
    GeneReviewsi KCNE3.
    HGNCi HGNC:6243. KCNE3.
    HPAi HPA014849.
    MIMi 604433. gene.
    613119. phenotype.
    neXtProti NX_Q9Y6H6.
    Orphaneti 130. Brugada syndrome.
    681. Hypokalemic periodic paralysis.
    PharmGKBi PA393.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG42036.
    HOGENOMi HOG000113209.
    HOVERGENi HBG052228.
    InParanoidi Q9Y6H6.
    KOi K04897.
    OMAi AYMYILF.
    PhylomeDBi Q9Y6H6.
    TreeFami TF335981.

    Miscellaneous databases

    GeneWikii KCNE3.
    GenomeRNAii 10008.
    NextBioi 37809.
    PROi Q9Y6H6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y6H6.
    Bgeei Q9Y6H6.
    CleanExi HS_KCNE3.
    Genevestigatori Q9Y6H6.

    Family and domain databases

    InterProi IPR000369. K_chnl_volt-dep_bsu_KCNE.
    IPR005426. K_chnl_volt-dep_bsu_KCNE3.
    [Graphical view ]
    Pfami PF02060. ISK_Channel. 1 hit.
    [Graphical view ]
    PRINTSi PR01606. KCNE3CHANNEL.
    PR00168. KCNECHANNEL.
    ProtoNeti Search...

    Publicationsi

    1. Abbott G.W., Sesti F., Buck M.E., Goldstein S.A.N.
      Submitted (JUL-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Structural determinants of KvLQT1 control by the KCNE family of proteins."
      Melman Y.F., Domenech A., de La Luna S., McDonald T.V.
      J. Biol. Chem. 276:6439-6444(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "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].
      Tissue: Blood.
    4. "A constitutively open potassium channel formed by KCNQ1 and KCNE3."
      Schroeder B.C., Waldegger S., Fehr S., Bleich M., Warth R., Greger R., Jentsch T.J.
      Nature 403:196-199(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: ASSOCIATION WITH KCNQ1, TISSUE SPECIFICITY.
    5. "MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis."
      Abbott G.W., Butler M.H., Bendahhou S., Dalakas M.C., Ptacek L.J., Goldstein S.A.N.
      Cell 104:217-231(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: ASSOCIATION WITH KCNC4, VARIANT HIS-83.
    6. "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 ASP-90.
    7. "A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis."
      Dias Da Silva M.R., Cerutti J.M., Arnaldi L.A.T., Maciel R.M.B.
      J. Clin. Endocrinol. Metab. 87:4881-4884(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HIS-83.
    8. "Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis."
      Sternberg D., Tabti N., Fournier E., Hainque B., Fontaine B.
      Neurology 61:857-859(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: LACK OF ASSOCIATION OF VARIANT HIS-83 WITH PERIODIC PARALISIS.
    9. "Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation."
      Jurkat-Rott K., Lehmann-Horn F.
      Neurology 62:1012-1015(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: LACK OF ASSOCIATION OF VARIANT HIS-83 WITH PERIODIC PARALISIS.
    10. Cited for: VARIANT BRGDA6 HIS-99.
    11. "Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome."
      Ohno S., Toyoda F., Zankov D.P., Yoshida H., Makiyama T., Tsuji K., Honda T., Obayashi K., Ueyama H., Shimizu W., Miyamoto Y., Kamakura S., Matsuura H., Kita T., Horie M.
      Hum. Mutat. 30:557-563(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALA-4; ARG-39 AND HIS-99.

    Entry informationi

    Entry nameiKCNE3_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y6H6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: November 1, 1999
    Last modified: October 1, 2014
    This is version 115 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

    Caution

    Variant His-83 has been associated with periodic paralysis (PubMed:11207363 and PubMed:12414843). The association could not be confirmed by further studies leading to the conclusion that His-83 does not play a causative role in the disease (PubMed:14504341 and PubMed:15037716).Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3