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Q15842

- KCNJ8_HUMAN

UniProt

Q15842 - KCNJ8_HUMAN

Protein

ATP-sensitive inward rectifier potassium channel 8

Gene

KCNJ8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 139 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
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    Functioni

    This potassium channel is controlled by G proteins. 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. Can be blocked by external barium By similarity.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei170 – 1701Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesiumBy similarity

    GO - Molecular functioni

    1. ATP-activated inward rectifier potassium channel activity Source: Ensembl
    2. ATP binding Source: Ensembl
    3. inward rectifier potassium channel activity Source: ProtInc

    GO - Biological processi

    1. defense response to virus Source: Ensembl
    2. heart development Source: Ensembl
    3. kidney development Source: Ensembl
    4. potassium ion import Source: Ensembl
    5. potassium ion transport Source: ProtInc
    6. response to exogenous dsRNA Source: Ensembl
    7. response to lipopolysaccharide Source: Ensembl
    8. response to pH Source: Ensembl
    9. synaptic transmission Source: Reactome
    10. vasodilation Source: Ensembl

    Keywords - Molecular functioni

    Ion channel, Voltage-gated channel

    Keywords - Biological processi

    Ion transport, Potassium transport, Transport

    Keywords - Ligandi

    Potassium

    Enzyme and pathway databases

    ReactomeiREACT_75775. ATP sensitive Potassium channels.

    Protein family/group databases

    TCDBi1.A.2.1.13. inward rectifier k(+) channel (irk-c) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ATP-sensitive inward rectifier potassium channel 8
    Alternative name(s):
    Inward rectifier K(+) channel Kir6.1
    Potassium channel, inwardly rectifying subfamily J member 8
    uKATP-1
    Gene namesi
    Name:KCNJ8
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:6269. KCNJ8.

    Subcellular locationi

    GO - Cellular componenti

    1. ATP-sensitive potassium channel complex Source: Ensembl
    2. mitochondrion Source: Ensembl
    3. myofibril Source: Ensembl
    4. plasma membrane Source: Reactome
    5. sarcolemma Source: Ensembl
    6. voltage-gated potassium channel complex Source: ProtInc

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Defects in KCNJ8 may be associated with susceptibility to J-wave syndromes, a group of heart disorders characterized by early repolarization events as indicated by abnormal J-wave manifestation on electrocardiogram (ECG). The J point denotes the junction of the QRS complex and the ST segment on the ECG, marking the end of depolarization and the beginning of repolarization. An abnormal J wave is a deflection with a dome or hump morphology immediately following the QRS complex of the surface ECG. Examples of J-wave disorders are arrhythmias associated with an early repolarization pattern in the inferior or mid to lateral precordial leads, Brugada syndrome, some cases of idiopathic ventricular fibrillation (VF) with an early repolarization pattern in the inferior, inferolateral or global leads, as well as arrhythmias associated with hypothermia.
    Sudden infant death syndrome (SIDS) [MIM:272120]: SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti332 – 3321Missing in SIDS; the mutant channel displays reduced potassium currents compared to wild type. 1 Publication
    VAR_065878
    Natural varianti346 – 3461V → I in SIDS; the mutant channel displays reduced potassium currents compared to wild type. 1 Publication
    VAR_065879

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi272120. phenotype.
    Orphaneti130. Brugada syndrome.
    PharmGKBiPA30050.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 424424ATP-sensitive inward rectifier potassium channel 8PRO_0000154947Add
    BLAST

    Proteomic databases

    PaxDbiQ15842.
    PRIDEiQ15842.

    PTM databases

    PhosphoSiteiQ15842.

    Expressioni

    Tissue specificityi

    Predominantly detected in fetal and adult heart.1 Publication

    Gene expression databases

    ArrayExpressiQ15842.
    BgeeiQ15842.
    CleanExiHS_KCNJ8.
    GenevestigatoriQ15842.

    Organism-specific databases

    HPAiHPA031066.

    Interactioni

    Protein-protein interaction databases

    BioGridi109966. 1 interaction.
    STRINGi9606.ENSP00000240662.

    Structurei

    3D structure databases

    ProteinModelPortaliQ15842.
    SMRiQ15842. Positions 35-361.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 6969CytoplasmicBy similarityAdd
    BLAST
    Topological domaini95 – 12632ExtracellularBy similarityAdd
    BLAST
    Topological domaini146 – 1549ExtracellularBy similarity
    Topological domaini177 – 424248CytoplasmicBy similarityAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei127 – 13812Helical; Pore-forming; Name=H5By similarityAdd
    BLAST
    Intramembranei139 – 1457Pore-formingBy similarity

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei70 – 9425Helical; Name=M1By similarityAdd
    BLAST
    Transmembranei155 – 17622Helical; Name=M2By similarityAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi140 – 1456Selectivity filterBy similarity

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG72812.
    HOGENOMiHOG000237325.
    HOVERGENiHBG006178.
    InParanoidiQ15842.
    KOiK05001.
    OMAiVIAVRNN.
    OrthoDBiEOG7XPZ5K.
    PhylomeDBiQ15842.
    TreeFamiTF313676.

    Family and domain databases

    Gene3Di2.60.40.1400. 1 hit.
    InterProiIPR014756. Ig_E-set.
    IPR016449. K_chnl_inward-rec_Kir.
    IPR003278. K_chnl_inward-rec_Kir6.1.
    IPR013518. K_chnl_inward-rec_Kir_cyto.
    [Graphical view]
    PANTHERiPTHR11767. PTHR11767. 1 hit.
    PfamiPF01007. IRK. 1 hit.
    [Graphical view]
    PIRSFiPIRSF005465. GIRK_kir. 1 hit.
    PRINTSiPR01331. KIR61CHANNEL.
    PR01320. KIRCHANNEL.
    SUPFAMiSSF81296. SSF81296. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q15842-1 [UniParc]FASTAAdd to Basket

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    MLARKSIIPE EYVLARIAAE NLRKPRIRDR LPKARFIAKS GACNLAHKNI    50
    REQGRFLQDI FTTLVDLKWR HTLVIFTMSF LCSWLLFAIM WWLVAFAHGD 100
    IYAYMEKSGM EKSGLESTVC VTNVRSFTSA FLFSIEVQVT IGFGGRMMTE 150
    ECPLAITVLI LQNIVGLIIN AVMLGCIFMK TAQAHRRAET LIFSRHAVIA 200
    VRNGKLCFMF RVGDLRKSMI ISASVRIQVV KKTTTPEGEV VPIHQLDIPV 250
    DNPIESNNIF LVAPLIICHV IDKRSPLYDI SATDLANQDL EVIVILEGVV 300
    ETTGITTQAR TSYIAEEIQW GHRFVSIVTE EEGVYSVDYS KFGNTVKVAA 350
    PRCSARELDE KPSILIQTLQ KSELSHQNSL RKRNSMRRNN SMRRNNSIRR 400
    NNSSLMVPKV QFMTPEGNQN TSES 424
    Length:424
    Mass (Da):47,968
    Last modified:November 1, 1996 - v1
    Checksum:i973EAA5900C6447C
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti332 – 3321Missing in SIDS; the mutant channel displays reduced potassium currents compared to wild type. 1 Publication
    VAR_065878
    Natural varianti334 – 3341V → A.
    Corresponds to variant rs34811413 [ dbSNP | Ensembl ].
    VAR_049670
    Natural varianti346 – 3461V → I in SIDS; the mutant channel displays reduced potassium currents compared to wild type. 1 Publication
    VAR_065879
    Natural varianti422 – 4221S → L Associated with susceptibility to J-wave syndromes; the mutant channel displays an increase in glibenclamide-sensitive potassium currents compared to wild type. 1 Publication
    Corresponds to variant rs72554071 [ dbSNP | Ensembl ].
    VAR_065225

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D50312 mRNA. Translation: BAA08851.1.
    D50315 Genomic DNA. Translation: BAA08852.1.
    BC000544 mRNA. Translation: AAH00544.1.
    CCDSiCCDS8692.1.
    RefSeqiNP_004973.1. NM_004982.3.
    XP_005253415.1. XM_005253358.2.
    UniGeneiHs.102308.
    Hs.619408.
    Hs.741642.

    Genome annotation databases

    EnsembliENST00000240662; ENSP00000240662; ENSG00000121361.
    GeneIDi3764.
    KEGGihsa:3764.
    UCSCiuc001rff.4. human.

    Polymorphism databases

    DMDMi2493600.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D50312 mRNA. Translation: BAA08851.1 .
    D50315 Genomic DNA. Translation: BAA08852.1 .
    BC000544 mRNA. Translation: AAH00544.1 .
    CCDSi CCDS8692.1.
    RefSeqi NP_004973.1. NM_004982.3.
    XP_005253415.1. XM_005253358.2.
    UniGenei Hs.102308.
    Hs.619408.
    Hs.741642.

    3D structure databases

    ProteinModelPortali Q15842.
    SMRi Q15842. Positions 35-361.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109966. 1 interaction.
    STRINGi 9606.ENSP00000240662.

    Chemistry

    BindingDBi Q15842.
    ChEMBLi CHEMBL4770.
    DrugBanki DB00922. Levosimendan.
    GuidetoPHARMACOLOGYi 441.

    Protein family/group databases

    TCDBi 1.A.2.1.13. inward rectifier k(+) channel (irk-c) family.

    PTM databases

    PhosphoSitei Q15842.

    Polymorphism databases

    DMDMi 2493600.

    Proteomic databases

    PaxDbi Q15842.
    PRIDEi Q15842.

    Protocols and materials databases

    DNASUi 3764.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000240662 ; ENSP00000240662 ; ENSG00000121361 .
    GeneIDi 3764.
    KEGGi hsa:3764.
    UCSCi uc001rff.4. human.

    Organism-specific databases

    CTDi 3764.
    GeneCardsi GC12M021818.
    HGNCi HGNC:6269. KCNJ8.
    HPAi HPA031066.
    MIMi 272120. phenotype.
    600935. gene.
    neXtProti NX_Q15842.
    Orphaneti 130. Brugada syndrome.
    PharmGKBi PA30050.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG72812.
    HOGENOMi HOG000237325.
    HOVERGENi HBG006178.
    InParanoidi Q15842.
    KOi K05001.
    OMAi VIAVRNN.
    OrthoDBi EOG7XPZ5K.
    PhylomeDBi Q15842.
    TreeFami TF313676.

    Enzyme and pathway databases

    Reactomei REACT_75775. ATP sensitive Potassium channels.

    Miscellaneous databases

    GeneWikii KCNJ8.
    GenomeRNAii 3764.
    NextBioi 14759.
    PROi Q15842.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q15842.
    Bgeei Q15842.
    CleanExi HS_KCNJ8.
    Genevestigatori Q15842.

    Family and domain databases

    Gene3Di 2.60.40.1400. 1 hit.
    InterProi IPR014756. Ig_E-set.
    IPR016449. K_chnl_inward-rec_Kir.
    IPR003278. K_chnl_inward-rec_Kir6.1.
    IPR013518. K_chnl_inward-rec_Kir_cyto.
    [Graphical view ]
    PANTHERi PTHR11767. PTHR11767. 1 hit.
    Pfami PF01007. IRK. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF005465. GIRK_kir. 1 hit.
    PRINTSi PR01331. KIR61CHANNEL.
    PR01320. KIRCHANNEL.
    SUPFAMi SSF81296. SSF81296. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "cDNA sequence, gene structure, and chromosomal localization of the human ATP-sensitive potassium channel, uKATP-1, gene (KCNJ8)."
      Inagaki N., Inazawa J., Seino S.
      Genomics 30:102-104(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
      Tissue: Lung and Placenta.
    2. "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: Brain.
    3. "Genomic organization and expression of KCNJ8/Kir6.1, a gene encoding a subunit of an ATP-sensitive potassium channel."
      Erginel-Unaltuna N., Yang W.P., Blanar M.A.
      Gene 211:71-78(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    4. Cited for: REVIEW ON J-WAVE SYNDROMES.
    5. "Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes."
      Medeiros-Domingo A., Tan B.H., Crotti L., Tester D.J., Eckhardt L., Cuoretti A., Kroboth S.L., Song C., Zhou Q., Kopp D., Schwartz P.J., Makielski J.C., Ackerman M.J.
      Heart Rhythm 7:1466-1471(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO J-WAVE SYNDROMES, VARIANT LEU-422, CHARACTERIZATION OF VARIANT LEU-422.
    6. "Loss-of-function mutations in the KCNJ8-encoded Kir6.1 KATP channel and sudden infant death syndrome."
      Tester D.J., Tan B.H., Medeiros-Domingo A., Song C., Makielski J.C., Ackerman M.J.
      Circ. Cardiovasc. Genet. 4:510-515(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SIDS GLU-332 DEL AND ILE-346, CHARACTERIZATION OF VARIANTS SIDS GLU-332 DEL AND ILE-346.

    Entry informationi

    Entry nameiKCNJ8_HUMAN
    AccessioniPrimary (citable) accession number: Q15842
    Secondary accession number(s): O00657
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: November 1, 1996
    Last modified: October 1, 2014
    This is version 139 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: 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