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Protein

ATP-sensitive inward rectifier potassium channel 10

Gene

KCNJ10

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

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

  • ATP-activated inward rectifier potassium channel activity Source: ProtInc
  • ATP binding Source: UniProtKB-KW

GO - Biological processi

Complete GO annotation...

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 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:6256. KCNJ10.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 6464CytoplasmicBy similarityAdd
BLAST
Transmembranei65 – 8925Helical; Name=M1By similarityAdd
BLAST
Topological domaini90 – 11425ExtracellularBy similarityAdd
BLAST
Intramembranei115 – 12612Helical; Pore-forming; Name=H5By similarityAdd
BLAST
Intramembranei127 – 1337Pore-formingBy similarity
Topological domaini134 – 1429ExtracellularBy similarity
Transmembranei143 – 16422Helical; Name=M2By similarityAdd
BLAST
Topological domaini165 – 379215CytoplasmicBy similarityAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES)3 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA complex disorder characterized by generalized seizures with onset in infancy, delayed psychomotor development, ataxia, sensorineural hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia.

See also OMIM:612780
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti65 – 651R → P in SESAMES. 2 Publications
VAR_063059
Natural varianti68 – 681L → P in SESAMES. 1 Publication
VAR_072746
Natural varianti77 – 771G → R in SESAMES. 1 Publication
VAR_063060
Natural varianti129 – 1291I → V in SESAMES. 1 Publication
VAR_072747
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.
Orphaneti199343. EAST syndrome.
705. Pendred syndrome.
PharmGKBiPA30043.

Chemistry

DrugBankiDB01392. Yohimbine.

Polymorphism and mutation databases

BioMutaiKCNJ10.
DMDMi2493605.

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

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.
SIAH1Q8IUQ43EBI-9117877,EBI-747107

Protein-protein interaction databases

BioGridi109968. 14 interactions.
IntActiP78508. 5 interactions.
STRINGi9606.ENSP00000357068.

Structurei

3D structure databases

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

Family & Domainsi

Motif

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

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG284842.
GeneTreeiENSGT00760000118842.
HOGENOMiHOG000237326.
HOVERGENiHBG006178.
InParanoidiP78508.
KOiK05003.
OMAiGTWFAFG.
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

        10         20         30         40         50
MTSVAKVYYS QTTQTESRPL MGPGIRRRRV LTKDGRSNVR MEHIADKRFL
60 70 80 90 100
YLKDLWTTFI DMQWRYKLLL FSATFAGTWF LFGVVWYLVA VAHGDLLELD
110 120 130 140 150
PPANHTPCVV QVHTLTGAFL FSLESQTTIG YGFRYISEEC PLAIVLLIAQ
160 170 180 190 200
LVLTTILEIF ITGTFLAKIA RPKKRAETIR FSQHAVVASH NGKPCLMIRV
210 220 230 240 250
ANMRKSLLIG CQVTGKLLQT HQTKEGENIR LNQVNVTFQV DTASDSPFLI
260 270 280 290 300
LPLTFYHVVD ETSPLKDLPL RSGEGDFELV LILSGTVEST SATCQVRTSY
310 320 330 340 350
LPEEILWGYE FTPAISLSAS GKYIADFSLF DQVVKVASPS GLRDSTVRYG
360 370
DPEKLKLEES LREQAEKEGS ALSVRISNV
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. Curated

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 varianti68 – 681L → P in SESAMES. 1 Publication
VAR_072746
Natural varianti77 – 771G → R in SESAMES. 1 Publication
VAR_063060
Natural varianti129 – 1291I → V in SESAMES. 1 Publication
VAR_072747
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:
EMBLi
GenBanki
DDBJi
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.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi109968. 14 interactions.
IntActiP78508. 5 interactions.
STRINGi9606.ENSP00000357068.

Chemistry

BindingDBiP78508.
ChEMBLiCHEMBL2146348.
DrugBankiDB01392. Yohimbine.
GuidetoPHARMACOLOGYi438.

PTM databases

PhosphoSiteiP78508.

Polymorphism and mutation databases

BioMutaiKCNJ10.
DMDMi2493605.

Proteomic databases

PaxDbiP78508.
PRIDEiP78508.

Protocols and materials databases

DNASUi3766.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi3766.
GeneCardsiGC01M160007.
GeneReviewsiKCNJ10.
HGNCiHGNC:6256. KCNJ10.
HPAiCAB022636.
MIMi602208. gene.
612780. phenotype.
neXtProtiNX_P78508.
Orphaneti199343. EAST syndrome.
705. Pendred syndrome.
PharmGKBiPA30043.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG284842.
GeneTreeiENSGT00760000118842.
HOGENOMiHOG000237326.
HOVERGENiHBG006178.
InParanoidiP78508.
KOiK05003.
OMAiGTWFAFG.
OrthoDBiEOG7GFB4Z.
PhylomeDBiP78508.
TreeFamiTF313676.

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.

Miscellaneous databases

ChiTaRSiKCNJ10. human.
GeneWikiiKCNJ10.
GenomeRNAii3766.
NextBioi14767.
PROiP78508.
SOURCEiSearch...

Gene expression databases

BgeeiP78508.
CleanExiHS_KCNJ10.
GenevestigatoriP78508.

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.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.
  8. Cited for: VARIANTS SESAMES PRO-68 AND VAL-129.

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: May 27, 2015
This is version 146 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.