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B7U540

- KCJ18_HUMAN

UniProt

B7U540 - KCJ18_HUMAN

Protein

Inward rectifier potassium channel 18

Gene

KCNJ18

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 45 (01 Oct 2014)
      Sequence version 2 (15 Dec 2009)
      Previous versions | rss
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    Functioni

    Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium.1 Publication

    GO - Molecular functioni

    1. inward rectifier potassium channel activity Source: UniProtKB

    GO - Biological processi

    1. potassium ion transmembrane transport Source: GOC

    Keywords - Molecular functioni

    Ion channel, Voltage-gated channel

    Keywords - Biological processi

    Ion transport, Potassium transport, Transport

    Keywords - Ligandi

    Potassium

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Inward rectifier potassium channel 18
    Alternative name(s):
    Inward rectifier K(+) channel Kir2.6
    Potassium channel, inwardly rectifying subfamily J member 18
    Gene namesi
    Name:KCNJ18
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Unplaced

    Organism-specific databases

    HGNCiHGNC:39080. KCNJ18.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239]: A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti140 – 1401T → M in TTPP2. 1 Publication
    VAR_063286
    Natural varianti205 – 2051R → H in TTPP2; hypermorphic; longer time required for half-maximal current degradation. 1 Publication
    VAR_063287
    Natural varianti354 – 3541T → M in TTPP2; small decrease in current density. 1 Publication
    VAR_063288
    Natural varianti366 – 3661K → R in TTPP2; hypermorphic; longer time required for half-maximal current degradation. 1 Publication
    VAR_063289

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi354 – 3541T → E: Decreases the single-channel open probability (Po) without altering its conductance. 1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi613239. phenotype.
    Orphaneti79102. Thyrotoxic periodic paralysis.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 433433Inward rectifier potassium channel 18PRO_0000395171Add
    BLAST

    Post-translational modificationi

    Probably phosphorylated by PKC; decreases single-channel open probability.1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PRIDEiB7U540.

    Expressioni

    Tissue specificityi

    Specifically expressed in skeletal muscle.1 Publication

    Inductioni

    Up-regulated by triiodothyronine.1 Publication

    Organism-specific databases

    HPAiHPA027021.

    Interactioni

    Protein-protein interaction databases

    BioGridi936647. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliB7U540.
    SMRiB7U540. Positions 42-372.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 8484CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini106 – 15651ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini178 – 433256CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei85 – 10521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei157 – 17721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    HOVERGENiHBG006178.
    PhylomeDBiB7U540.

    Family and domain databases

    Gene3Di2.60.40.1400. 1 hit.
    InterProiIPR014756. Ig_E-set.
    IPR016449. K_chnl_inward-rec_Kir.
    IPR003272. K_chnl_inward-rec_Kir2.2.
    IPR013518. K_chnl_inward-rec_Kir_cyto.
    IPR013673. K_chnl_inward-rec_Kir_N.
    [Graphical view]
    PANTHERiPTHR11767. PTHR11767. 1 hit.
    PTHR11767:SF14. PTHR11767:SF14. 1 hit.
    PfamiPF01007. IRK. 1 hit.
    PF08466. IRK_N. 1 hit.
    [Graphical view]
    PIRSFiPIRSF005465. GIRK_kir. 1 hit.
    PRINTSiPR01325. KIR22CHANNEL.
    PR01320. KIRCHANNEL.
    SUPFAMiSSF81296. SSF81296. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    B7U540-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTAASQANPY SIVSLEEDGL HLVTMSGAKG FGNGKVHTQH RCRNRFVKKN    50
    GQCNIAFANM DEKSQRYLAD MFTTCVDIRW RYMLLIFSLA FLASWLLFGV 100
    IFWVIAVAHG DLEPAEGHGR TPCVMQVHGF MAAFLFSIET QTTIGYGLRC 150
    VTEECLVAVF MVVAQSIVGC IIDSFMIGAI MAKMARPKKR AHTLLFSHNA 200
    VVALRDGKLC LMWRVGNLRK SHIVEAHVRA QLIKPRVTEE GEYIPLDQVD 250
    IDVGFDKGLD RIFLVSPITI LHEIDEASPL LGISRQDLET DDFEIVVILE 300
    GMVEATAMTT QARSSYLANE ILWGHRFEPV LFEEKNQFKI DHSHFHKTYE 350
    VPSTPRCSAK DLVENKFLLP SANSFCYENE LAFLSRDEED EADGDQDGRS 400
    RDGLSPQARH DFDRLQAGGG VLEQRPYRRG SEI 433
    Length:433
    Mass (Da):48,738
    Last modified:December 15, 2009 - v2
    Checksum:i04FC98656CD046D1
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti140 – 1401T → M in TTPP2. 1 Publication
    VAR_063286
    Natural varianti205 – 2051R → H in TTPP2; hypermorphic; longer time required for half-maximal current degradation. 1 Publication
    VAR_063287
    Natural varianti354 – 3541T → M in TTPP2; small decrease in current density. 1 Publication
    VAR_063288
    Natural varianti366 – 3661K → R in TTPP2; hypermorphic; longer time required for half-maximal current degradation. 1 Publication
    VAR_063289

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    FJ434338 mRNA. Translation: ACJ64506.2.
    UniGeneiHs.200629.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    FJ434338 mRNA. Translation: ACJ64506.2 .
    UniGenei Hs.200629.

    3D structure databases

    ProteinModelPortali B7U540.
    SMRi B7U540. Positions 42-372.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 936647. 1 interaction.

    Proteomic databases

    PRIDEi B7U540.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Organism-specific databases

    GeneCardsi GC17P8V0344.
    HGNCi HGNC:39080. KCNJ18.
    HPAi HPA027021.
    MIMi 613236. gene.
    613239. phenotype.
    neXtProti NX_B7U540.
    Orphaneti 79102. Thyrotoxic periodic paralysis.
    GenAtlasi Search...

    Phylogenomic databases

    HOVERGENi HBG006178.
    PhylomeDBi B7U540.

    Miscellaneous databases

    NextBioi 33696320.
    PROi B7U540.
    SOURCEi Search...

    Family and domain databases

    Gene3Di 2.60.40.1400. 1 hit.
    InterProi IPR014756. Ig_E-set.
    IPR016449. K_chnl_inward-rec_Kir.
    IPR003272. K_chnl_inward-rec_Kir2.2.
    IPR013518. K_chnl_inward-rec_Kir_cyto.
    IPR013673. K_chnl_inward-rec_Kir_N.
    [Graphical view ]
    PANTHERi PTHR11767. PTHR11767. 1 hit.
    PTHR11767:SF14. PTHR11767:SF14. 1 hit.
    Pfami PF01007. IRK. 1 hit.
    PF08466. IRK_N. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF005465. GIRK_kir. 1 hit.
    PRINTSi PR01325. KIR22CHANNEL.
    PR01320. KIRCHANNEL.
    SUPFAMi SSF81296. SSF81296. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, INDUCTION BY TRIIODOTHYRONINE, TISSUE SPECIFICITY, PHOSPHORYLATION, VARIANTS TTPP2 MET-140; HIS-205; MET-354 AND ARG-366, CHARACTERIZATION OF VARIANTS TTPP2 HIS-205; MET-354 AND ARG-366, MUTAGENESIS OF THR-354.
      Tissue: Brain.

    Entry informationi

    Entry nameiKCJ18_HUMAN
    AccessioniPrimary (citable) accession number: B7U540
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 13, 2010
    Last sequence update: December 15, 2009
    Last modified: October 1, 2014
    This is version 45 of the entry and version 2 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: 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