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Protein

ATP-sensitive inward rectifier potassium channel 10

Gene

KCNJ10

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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). In the kidney, together with KCNJ16, mediates basolateral K+ recycling in distal tubules; this process is critical for Na+ reabsorption at the tubules.By similarity1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei158Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesiumBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi210 – 217ATPSequence analysis8

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionIon channel, Voltage-gated channel
Biological processIon transport, Potassium transport, Transport
LigandATP-binding, Nucleotide-binding, Potassium

Enzyme and pathway databases

ReactomeiR-HSA-1296041 Activation of G protein gated Potassium channels
R-HSA-1296067 Potassium transport channels
R-HSA-997272 Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

Protein family/group databases

TCDBi1.A.2.1.16 the inward rectifier k(+) channel (irk-c) family

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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000177807.6
HGNCiHGNC:6256 KCNJ10
MIMi602208 gene
neXtProtiNX_P78508

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 64CytoplasmicBy similarityAdd BLAST64
Transmembranei65 – 89Helical; Name=M1By similarityAdd BLAST25
Topological domaini90 – 114ExtracellularBy similarityAdd BLAST25
Intramembranei115 – 126Helical; Pore-forming; Name=H5By similarityAdd BLAST12
Intramembranei127 – 133Pore-formingBy similarity7
Topological domaini134 – 142ExtracellularBy similarity9
Transmembranei143 – 164Helical; Name=M2By similarityAdd BLAST22
Topological domaini165 – 379CytoplasmicBy similarityAdd BLAST215

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES)4 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_06305965R → P in SESAMES; no effect on localization to the basolateral membrane in kidney cells. 3 PublicationsCorresponds to variant dbSNP:rs137853066EnsemblClinVar.1
Natural variantiVAR_07274668L → P in SESAMES. 1 Publication1
Natural variantiVAR_06306077G → R in SESAMES; important loss of localization to the basolateral membrane in kidney cells; in non-tubular cells, does not form functional channels. 2 PublicationsCorresponds to variant dbSNP:rs137853072EnsemblClinVar.1
Natural variantiVAR_072747129I → V in SESAMES. 1 Publication1
Natural variantiVAR_063061140C → R in SESAMES; loss of localization to the basolateral membrane in kidney cells; in non-tubular cells, does not form functional channels. 2 PublicationsCorresponds to variant dbSNP:rs137853068EnsemblClinVar.1
Natural variantiVAR_063062164T → I in SESAMES; no effect on localization to the basolateral membrane in kidney cells. 2 PublicationsCorresponds to variant dbSNP:rs137853069EnsemblClinVar.1
Natural variantiVAR_063063167A → V in SESAMES; loss of localization to the basolateral membrane in kidney cells; in non-tubular cells, forms functional channels; important loss of MAGI1-binding when transfected in tubular MDCKII cells, but not in non-tubular HEK293T cells. 2 PublicationsCorresponds to variant dbSNP:rs137853070EnsemblClinVar.1
Natural variantiVAR_063064297R → C in SESAMES; no effect on localization to the basolateral membrane in kidney cells. 2 PublicationsCorresponds to variant dbSNP:rs137853071EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNETi3766
GeneReviewsiKCNJ10
MalaCardsiKCNJ10
MIMi612780 phenotype
OpenTargetsiENSG00000177807
Orphaneti199343 EAST syndrome
705 Pendred syndrome
PharmGKBiPA30043

Chemistry databases

ChEMBLiCHEMBL2146348
DrugBankiDB01392 Yohimbine
GuidetoPHARMACOLOGYi438

Polymorphism and mutation databases

BioMutaiKCNJ10
DMDMi2493605

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001549531 – 379ATP-sensitive inward rectifier potassium channel 10Add BLAST379

Proteomic databases

PaxDbiP78508
PeptideAtlasiP78508
PRIDEiP78508
ProteomicsDBi57627
TopDownProteomicsiP78508

PTM databases

iPTMnetiP78508
PhosphoSitePlusiP78508

Expressioni

Tissue specificityi

Expressed in kidney (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000177807
CleanExiHS_KCNJ10
ExpressionAtlasiP78508 baseline and differential
GenevisibleiP78508 HS

Organism-specific databases

HPAiHPA078302

Interactioni

Subunit structurei

Heterodimer with Kir5.1/KCNJ16; this interaction is required for KCNJ16 localization to the basolateral membrane in kidney cells. Interacts with MAGI1, alone and possibly as a heterodimer with KCNJ16; this interaction may facilitate KCNJ10/KCNJ16 potassium channel expression at the basolateral membrane in kidney cells (PubMed:24561201). Interacts with PATJ (By similarity).By similarity1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi109968, 19 interactors
IntActiP78508, 5 interactors
MINTiP78508
STRINGi9606.ENSP00000357068

Chemistry databases

BindingDBiP78508

Structurei

3D structure databases

ProteinModelPortaliP78508
SMRiP78508
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi128 – 133Selectivity filterBy similarity6

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3827 Eukaryota
ENOG410XQ62 LUCA
GeneTreeiENSGT00760000118842
HOGENOMiHOG000237326
HOVERGENiHBG006178
InParanoidiP78508
KOiK05003
OMAiIPLTFYH
OrthoDBiEOG091G08HC
PhylomeDBiP78508
TreeFamiTF313676

Family and domain databases

Gene3Di2.60.40.1400, 2 hits
InterProiView protein in InterPro
IPR014756 Ig_E-set
IPR016449 K_chnl_inward-rec_Kir
IPR003269 K_chnl_inward-rec_Kir1.2
IPR013518 K_chnl_inward-rec_Kir_cyto
PANTHERiPTHR11767 PTHR11767, 1 hit
PTHR11767:SF21 PTHR11767:SF21, 1 hit
PfamiView protein in Pfam
PF01007 IRK, 1 hit
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 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti50L → P in AAB07046 (PubMed:10659995).Curated1
Sequence conflicti83G → V in AAH34036 (PubMed:15489334).Curated1
Sequence conflicti166L → Q in AAB07046 (PubMed:10659995).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06305965R → P in SESAMES; no effect on localization to the basolateral membrane in kidney cells. 3 PublicationsCorresponds to variant dbSNP:rs137853066EnsemblClinVar.1
Natural variantiVAR_07274668L → P in SESAMES. 1 Publication1
Natural variantiVAR_06306077G → R in SESAMES; important loss of localization to the basolateral membrane in kidney cells; in non-tubular cells, does not form functional channels. 2 PublicationsCorresponds to variant dbSNP:rs137853072EnsemblClinVar.1
Natural variantiVAR_072747129I → V in SESAMES. 1 Publication1
Natural variantiVAR_063061140C → R in SESAMES; loss of localization to the basolateral membrane in kidney cells; in non-tubular cells, does not form functional channels. 2 PublicationsCorresponds to variant dbSNP:rs137853068EnsemblClinVar.1
Natural variantiVAR_063062164T → I in SESAMES; no effect on localization to the basolateral membrane in kidney cells. 2 PublicationsCorresponds to variant dbSNP:rs137853069EnsemblClinVar.1
Natural variantiVAR_063063167A → V in SESAMES; loss of localization to the basolateral membrane in kidney cells; in non-tubular cells, forms functional channels; important loss of MAGI1-binding when transfected in tubular MDCKII cells, but not in non-tubular HEK293T cells. 2 PublicationsCorresponds to variant dbSNP:rs137853070EnsemblClinVar.1
Natural variantiVAR_034018271R → C1 PublicationCorresponds to variant dbSNP:rs1130183EnsemblClinVar.1
Natural variantiVAR_020339271R → H1 PublicationCorresponds to variant dbSNP:rs3795339EnsemblClinVar.1
Natural variantiVAR_063064297R → C in SESAMES; no effect on localization to the basolateral membrane in kidney cells. 2 PublicationsCorresponds to variant dbSNP:rs137853071EnsemblClinVar.1

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 No translation available.
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
ENST00000638728; ENSP00000492619; ENSG00000177807
ENST00000638868; ENSP00000491250; ENSG00000177807
ENST00000644903; ENSP00000495557; ENSG00000177807
GeneIDi3766
KEGGihsa:3766
UCSCiuc001fuw.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiKCJ10_HUMAN
AccessioniPrimary (citable) accession number: P78508
Secondary accession number(s): A3KME7
, Q5VUT9, Q8N4I7, Q92808
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 1, 1997
Last modified: June 20, 2018
This is version 171 of the entry and version 1 of the sequence. See 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

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