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P78508

- KCJ10_HUMAN

UniProt

P78508 - KCJ10_HUMAN

Protein

ATP-sensitive inward rectifier potassium channel 10

Gene

KCNJ10

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 140 (01 Oct 2014)
      Sequence version 1 (01 May 1997)
      Previous versions | rss
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    Functioni

    May be responsible for potassium buffering action of glial cells in the brain. 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 extracellular barium and cesium By similarity.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei158 – 1581Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesiumBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi210 – 2178ATPSequence Analysis

    GO - Molecular functioni

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

    GO - Biological processi

    1. adult walking behavior Source: Ensembl
    2. central nervous system myelination Source: Ensembl
    3. inflammatory response Source: Ensembl
    4. L-glutamate uptake involved in synaptic transmission Source: Ensembl
    5. membrane hyperpolarization Source: Ensembl
    6. optic nerve development Source: Ensembl
    7. potassium ion homeostasis Source: Ensembl
    8. potassium ion import Source: Ensembl
    9. potassium ion transport Source: ProtInc
    10. protein homotetramerization Source: Ensembl
    11. regulation of long-term neuronal synaptic plasticity Source: Ensembl
    12. regulation of resting membrane potential Source: Ensembl
    13. regulation of sensory perception of pain Source: Ensembl
    14. response to blue light Source: Ensembl
    15. response to glucocorticoid Source: Ensembl
    16. response to mineralocorticoid Source: Ensembl
    17. synaptic transmission Source: Reactome
    18. visual perception Source: Ensembl

    Keywords - Molecular functioni

    Ion channel, Voltage-gated channel

    Keywords - Biological processi

    Ion transport, Potassium transport, Transport

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding, Potassium

    Enzyme and pathway databases

    ReactomeiREACT_25004. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits.
    REACT_75815. Potassium transport channels.
    REACT_75831. Activation of G protein gated Potassium channels.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ATP-sensitive inward rectifier potassium channel 10
    Alternative name(s):
    ATP-dependent inwardly rectifying potassium channel Kir4.1
    Inward rectifier K(+) channel Kir1.2
    Potassium channel, inwardly rectifying subfamily J member 10
    Gene namesi
    Name:KCNJ10
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:6256. KCNJ10.

    Subcellular locationi

    GO - Cellular componenti

    1. apical plasma membrane Source: Ensembl
    2. basolateral plasma membrane Source: Ensembl
    3. dystrophin-associated glycoprotein complex Source: Ensembl
    4. integral component of plasma membrane Source: ProtInc
    5. microvillus Source: Ensembl
    6. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]: A complex disorder characterized by generalized seizures with onset in infancy, delayed psychomotor development, ataxia, sensorineural hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti65 – 651R → P in SESAMES. 2 Publications
    VAR_063059
    Natural varianti77 – 771G → R in SESAMES. 1 Publication
    VAR_063060
    Natural varianti140 – 1401C → R in SESAMES. 1 Publication
    VAR_063061
    Natural varianti164 – 1641T → I in SESAMES. 1 Publication
    VAR_063062
    Natural varianti167 – 1671A → V in SESAMES. 1 Publication
    VAR_063063
    Natural varianti297 – 2971R → C in SESAMES. 1 Publication
    VAR_063064

    Keywords - Diseasei

    Deafness, Disease mutation, Epilepsy, Mental retardation

    Organism-specific databases

    MIMi612780. phenotype.
    Orphaneti90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    199343. EAST syndrome.
    705. Pendred syndrome.
    PharmGKBiPA30043.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 379379ATP-sensitive inward rectifier potassium channel 10PRO_0000154953Add
    BLAST

    Proteomic databases

    PaxDbiP78508.
    PRIDEiP78508.

    PTM databases

    PhosphoSiteiP78508.

    Expressioni

    Gene expression databases

    ArrayExpressiP78508.
    BgeeiP78508.
    CleanExiHS_KCNJ10.
    GenevestigatoriP78508.

    Organism-specific databases

    HPAiCAB022636.

    Interactioni

    Subunit structurei

    Seems to form heterodimer with Kir5.1/KCNJ16. Interacts with INADL By similarity.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    MAGI1F1PK572EBI-9117877,EBI-9118227From a different organism.

    Protein-protein interaction databases

    BioGridi109968. 4 interactions.
    IntActiP78508. 4 interactions.
    STRINGi9606.ENSP00000357068.

    Structurei

    3D structure databases

    ProteinModelPortaliP78508.
    SMRiP78508. Positions 27-339.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 6464CytoplasmicBy similarityAdd
    BLAST
    Topological domaini90 – 11425ExtracellularBy similarityAdd
    BLAST
    Topological domaini134 – 1429ExtracellularBy similarity
    Topological domaini165 – 379215CytoplasmicBy similarityAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei115 – 12612Helical; Pore-forming; Name=H5By similarityAdd
    BLAST
    Intramembranei127 – 1337Pore-formingBy similarity

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei65 – 8925Helical; Name=M1By similarityAdd
    BLAST
    Transmembranei143 – 16422Helical; Name=M2By similarityAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi128 – 1336Selectivity filterBy similarity

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG284842.
    HOGENOMiHOG000237326.
    HOVERGENiHBG006178.
    InParanoidiP78508.
    KOiK05003.
    OMAiFYHVVDD.
    OrthoDBiEOG7GFB4Z.
    PhylomeDBiP78508.
    TreeFamiTF313676.

    Family and domain databases

    Gene3Di2.60.40.1400. 1 hit.
    InterProiIPR014756. Ig_E-set.
    IPR016449. K_chnl_inward-rec_Kir.
    IPR003269. K_chnl_inward-rec_Kir1.2.
    IPR013518. K_chnl_inward-rec_Kir_cyto.
    [Graphical view]
    PANTHERiPTHR11767. PTHR11767. 1 hit.
    PTHR11767:SF21. PTHR11767:SF21. 1 hit.
    PfamiPF01007. IRK. 1 hit.
    [Graphical view]
    PIRSFiPIRSF005465. GIRK_kir. 1 hit.
    PRINTSiPR01322. KIR12CHANNEL.
    PR01320. KIRCHANNEL.
    SUPFAMiSSF81296. SSF81296. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    P78508-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTSVAKVYYS QTTQTESRPL MGPGIRRRRV LTKDGRSNVR MEHIADKRFL    50
    YLKDLWTTFI DMQWRYKLLL FSATFAGTWF LFGVVWYLVA VAHGDLLELD 100
    PPANHTPCVV QVHTLTGAFL FSLESQTTIG YGFRYISEEC PLAIVLLIAQ 150
    LVLTTILEIF ITGTFLAKIA RPKKRAETIR FSQHAVVASH NGKPCLMIRV 200
    ANMRKSLLIG CQVTGKLLQT HQTKEGENIR LNQVNVTFQV DTASDSPFLI 250
    LPLTFYHVVD ETSPLKDLPL RSGEGDFELV LILSGTVEST SATCQVRTSY 300
    LPEEILWGYE FTPAISLSAS GKYIADFSLF DQVVKVASPS GLRDSTVRYG 350
    DPEKLKLEES LREQAEKEGS ALSVRISNV 379
    Length:379
    Mass (Da):42,508
    Last modified:May 1, 1997 - v1
    Checksum:iD9DA013FF4003533
    GO

    Sequence cautioni

    The sequence AAH34036.2 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti50 – 501L → P in AAB07046. (PubMed:10659995)Curated
    Sequence conflicti83 – 831G → V in AAH34036. (PubMed:15489334)Curated
    Sequence conflicti166 – 1661L → Q in AAB07046. (PubMed:10659995)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti65 – 651R → P in SESAMES. 2 Publications
    VAR_063059
    Natural varianti77 – 771G → R in SESAMES. 1 Publication
    VAR_063060
    Natural varianti140 – 1401C → R in SESAMES. 1 Publication
    VAR_063061
    Natural varianti164 – 1641T → I in SESAMES. 1 Publication
    VAR_063062
    Natural varianti167 – 1671A → V in SESAMES. 1 Publication
    VAR_063063
    Natural varianti271 – 2711R → C.1 Publication
    Corresponds to variant rs1130183 [ dbSNP | Ensembl ].
    VAR_034018
    Natural varianti271 – 2711R → H.
    Corresponds to variant rs3795339 [ dbSNP | Ensembl ].
    VAR_020339
    Natural varianti297 – 2971R → C in SESAMES. 1 Publication
    VAR_063064

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U73192 Genomic DNA. Translation: AAC50923.1.
    U73193 mRNA. Translation: AAC50924.1.
    U52155 mRNA. Translation: AAB07046.1.
    AL513302 Genomic DNA. Translation: CAH71493.1.
    CH471121 Genomic DNA. Translation: EAW52749.1.
    BC034036 mRNA. Translation: AAH34036.2. Different initiation.
    BC131627 mRNA. Translation: AAI31628.1.
    CCDSiCCDS1193.1.
    RefSeqiNP_002232.2. NM_002241.4.
    UniGeneiHs.408960.

    Genome annotation databases

    EnsembliENST00000368089; ENSP00000357068; ENSG00000177807.
    GeneIDi3766.
    KEGGihsa:3766.
    UCSCiuc001fuw.2. human.

    Polymorphism databases

    DMDMi2493605.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U73192 Genomic DNA. Translation: AAC50923.1 .
    U73193 mRNA. Translation: AAC50924.1 .
    U52155 mRNA. Translation: AAB07046.1 .
    AL513302 Genomic DNA. Translation: CAH71493.1 .
    CH471121 Genomic DNA. Translation: EAW52749.1 .
    BC034036 mRNA. Translation: AAH34036.2 . Different initiation.
    BC131627 mRNA. Translation: AAI31628.1 .
    CCDSi CCDS1193.1.
    RefSeqi NP_002232.2. NM_002241.4.
    UniGenei Hs.408960.

    3D structure databases

    ProteinModelPortali P78508.
    SMRi P78508. Positions 27-339.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109968. 4 interactions.
    IntActi P78508. 4 interactions.
    STRINGi 9606.ENSP00000357068.

    Chemistry

    ChEMBLi CHEMBL2146348.
    GuidetoPHARMACOLOGYi 438.

    PTM databases

    PhosphoSitei P78508.

    Polymorphism databases

    DMDMi 2493605.

    Proteomic databases

    PaxDbi P78508.
    PRIDEi P78508.

    Protocols and materials databases

    DNASUi 3766.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000368089 ; ENSP00000357068 ; ENSG00000177807 .
    GeneIDi 3766.
    KEGGi hsa:3766.
    UCSCi uc001fuw.2. human.

    Organism-specific databases

    CTDi 3766.
    GeneCardsi GC01M160007.
    GeneReviewsi KCNJ10.
    HGNCi HGNC:6256. KCNJ10.
    HPAi CAB022636.
    MIMi 602208. gene.
    612780. phenotype.
    neXtProti NX_P78508.
    Orphaneti 90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    199343. EAST syndrome.
    705. Pendred syndrome.
    PharmGKBi PA30043.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG284842.
    HOGENOMi HOG000237326.
    HOVERGENi HBG006178.
    InParanoidi P78508.
    KOi K05003.
    OMAi FYHVVDD.
    OrthoDBi EOG7GFB4Z.
    PhylomeDBi P78508.
    TreeFami TF313676.

    Enzyme and pathway databases

    Reactomei REACT_25004. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits.
    REACT_75815. Potassium transport channels.
    REACT_75831. Activation of G protein gated Potassium channels.

    Miscellaneous databases

    ChiTaRSi KCNJ10. human.
    GeneWikii KCNJ10.
    GenomeRNAii 3766.
    NextBioi 14767.
    PROi P78508.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P78508.
    Bgeei P78508.
    CleanExi HS_KCNJ10.
    Genevestigatori P78508.

    Family and domain databases

    Gene3Di 2.60.40.1400. 1 hit.
    InterProi IPR014756. Ig_E-set.
    IPR016449. K_chnl_inward-rec_Kir.
    IPR003269. K_chnl_inward-rec_Kir1.2.
    IPR013518. K_chnl_inward-rec_Kir_cyto.
    [Graphical view ]
    PANTHERi PTHR11767. PTHR11767. 1 hit.
    PTHR11767:SF21. PTHR11767:SF21. 1 hit.
    Pfami PF01007. IRK. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF005465. GIRK_kir. 1 hit.
    PRINTSi PR01322. KIR12CHANNEL.
    PR01320. KIRCHANNEL.
    SUPFAMi SSF81296. SSF81296. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of two K+ inward rectifier (Kir) 1.1 potassium channel homologs from human kidney (Kir1.2 and Kir1.3)."
      Shuck M.E., Piser T.M., Bock J.H., Slightom J.L., Lee K.S., Bienkowski M.J.
      J. Biol. Chem. 272:586-593(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], NUCLEOTIDE SEQUENCE [MRNA] OF 143-379.
      Tissue: Kidney.
    2. "Co-expression of human Kir3 subunits can yield channels with different functional properties."
      Schoots O., Wilson J.M., Ethier N., Bigras E., Hebert T.E., Van Tol H.H.M.
      Cell. Signal. 11:871-883(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CYS-271.
      Tissue: Cerebellum.
    3. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE 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].
      Tissue: Brain.
    6. Cited for: VARIANTS SESAMES PRO-65 AND ARG-77.
    7. "Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10."
      Scholl U.I., Choi M., Liu T., Ramaekers V.T., Hausler M.G., Grimmer J., Tobe S.W., Farhi A., Nelson-Williams C., Lifton R.P.
      Proc. Natl. Acad. Sci. U.S.A. 106:5842-5847(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SESAMES PRO-65; ARG-140; ILE-164; VAL-167 AND CYS-297.

    Entry informationi

    Entry nameiKCJ10_HUMAN
    AccessioniPrimary (citable) accession number: P78508
    Secondary accession number(s): A3KME7
    , Q5VUT9, Q8N4I7, Q92808
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: May 1, 1997
    Last modified: October 1, 2014
    This is version 140 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 1
      Human chromosome 1: 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