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P78508 (IRK10_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 135. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:KCNJ10
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length379 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Membrane; Multi-pass membrane protein.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7

Sequence similarities

Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ10 subfamily. [View classification]

Sequence caution

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

Ontologies

Keywords
   Biological processIon transport
Potassium transport
Transport
   Cellular componentMembrane
   Coding sequence diversityPolymorphism
   DiseaseDeafness
Disease mutation
Epilepsy
Mental retardation
   DomainTransmembrane
Transmembrane helix
   LigandATP-binding
Nucleotide-binding
Potassium
   Molecular functionIon channel
Voltage-gated channel
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processL-glutamate uptake involved in synaptic transmission

Inferred from electronic annotation. Source: Ensembl

adult walking behavior

Inferred from electronic annotation. Source: Ensembl

central nervous system myelination

Inferred from electronic annotation. Source: Ensembl

inflammatory response

Inferred from electronic annotation. Source: Ensembl

membrane hyperpolarization

Inferred from electronic annotation. Source: Ensembl

optic nerve development

Inferred from electronic annotation. Source: Ensembl

potassium ion homeostasis

Inferred from electronic annotation. Source: Ensembl

potassium ion import

Inferred from electronic annotation. Source: Ensembl

potassium ion transport

Traceable author statement Ref.1. Source: ProtInc

protein homotetramerization

Inferred from electronic annotation. Source: Ensembl

regulation of long-term neuronal synaptic plasticity

Inferred from electronic annotation. Source: Ensembl

regulation of resting membrane potential

Inferred from electronic annotation. Source: Ensembl

regulation of sensory perception of pain

Inferred from electronic annotation. Source: Ensembl

response to blue light

Inferred from electronic annotation. Source: Ensembl

response to glucocorticoid

Inferred from electronic annotation. Source: Ensembl

response to mineralocorticoid

Inferred from electronic annotation. Source: Ensembl

synaptic transmission

Traceable author statement. Source: Reactome

visual perception

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentapical plasma membrane

Inferred from electronic annotation. Source: Ensembl

basolateral plasma membrane

Inferred from electronic annotation. Source: Ensembl

dystrophin-associated glycoprotein complex

Inferred from electronic annotation. Source: Ensembl

integral component of plasma membrane

Traceable author statement Ref.1. Source: ProtInc

microvillus

Inferred from electronic annotation. Source: Ensembl

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

ATP-activated inward rectifier potassium channel activity

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 379379ATP-sensitive inward rectifier potassium channel 10
PRO_0000154953

Regions

Topological domain1 – 6464Cytoplasmic By similarity
Transmembrane65 – 8925Helical; Name=M1; By similarity
Topological domain90 – 11425Extracellular By similarity
Intramembrane115 – 12612Helical; Pore-forming; Name=H5; By similarity
Intramembrane127 – 1337Pore-forming; By similarity
Topological domain134 – 1429Extracellular By similarity
Transmembrane143 – 16422Helical; Name=M2; By similarity
Topological domain165 – 379215Cytoplasmic By similarity
Nucleotide binding210 – 2178ATP Potential
Motif128 – 1336Selectivity filter By similarity

Sites

Site1581Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium By similarity

Natural variations

Natural variant651R → P in SESAMES. Ref.6 Ref.7
VAR_063059
Natural variant771G → R in SESAMES. Ref.6
VAR_063060
Natural variant1401C → R in SESAMES. Ref.7
VAR_063061
Natural variant1641T → I in SESAMES. Ref.7
VAR_063062
Natural variant1671A → V in SESAMES. Ref.7
VAR_063063
Natural variant2711R → C. Ref.2
Corresponds to variant rs1130183 [ dbSNP | Ensembl ].
VAR_034018
Natural variant2711R → H.
Corresponds to variant rs3795339 [ dbSNP | Ensembl ].
VAR_020339
Natural variant2971R → C in SESAMES. Ref.7
VAR_063064

Experimental info

Sequence conflict501L → P in AAB07046. Ref.2
Sequence conflict831G → V in AAH34036. Ref.5
Sequence conflict1661L → Q in AAB07046. Ref.2

Sequences

Sequence LengthMass (Da)Tools
P78508 [UniParc].

Last modified May 1, 1997. Version 1.
Checksum: D9DA013FF4003533

FASTA37942,508
        10         20         30         40         50         60 
MTSVAKVYYS QTTQTESRPL MGPGIRRRRV LTKDGRSNVR MEHIADKRFL YLKDLWTTFI 

        70         80         90        100        110        120 
DMQWRYKLLL FSATFAGTWF LFGVVWYLVA VAHGDLLELD PPANHTPCVV QVHTLTGAFL 

       130        140        150        160        170        180 
FSLESQTTIG YGFRYISEEC PLAIVLLIAQ LVLTTILEIF ITGTFLAKIA RPKKRAETIR 

       190        200        210        220        230        240 
FSQHAVVASH NGKPCLMIRV ANMRKSLLIG CQVTGKLLQT HQTKEGENIR LNQVNVTFQV 

       250        260        270        280        290        300 
DTASDSPFLI LPLTFYHVVD ETSPLKDLPL RSGEGDFELV LILSGTVEST SATCQVRTSY 

       310        320        330        340        350        360 
LPEEILWGYE FTPAISLSAS GKYIADFSLF DQVVKVASPS GLRDSTVRYG DPEKLKLEES 

       370 
LREQAEKEGS ALSVRISNV 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations."
Bockenhauer D., Feather S., Stanescu H.C., Bandulik S., Zdebik A.A., Reichold M., Tobin J., Lieberer E., Sterner C., Landoure G., Arora R., Sirimanna T., Thompson D., Cross J.H., van't Hoff W., Al Masri O., Tullus K., Yeung S. expand/collapse author list , Anikster Y., Klootwijk E., Hubank M., Dillon M.J., Heitzmann D., Arcos-Burgos M., Knepper M.A., Dobbie A., Gahl W.A., Warth R., Sheridan E., Kleta R.
N. Engl. J. Med. 360:1960-1970(2009) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_002232.2. NM_002241.4.
UniGeneHs.408960.

3D structure databases

ProteinModelPortalP78508.
SMRP78508. Positions 27-339.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109968. 4 interactions.
IntActP78508. 4 interactions.
STRING9606.ENSP00000357068.

Chemistry

ChEMBLCHEMBL2146348.
GuidetoPHARMACOLOGY438.

PTM databases

PhosphoSiteP78508.

Polymorphism databases

DMDM2493605.

Proteomic databases

PaxDbP78508.
PRIDEP78508.

Protocols and materials databases

DNASU3766.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000368089; ENSP00000357068; ENSG00000177807.
GeneID3766.
KEGGhsa:3766.
UCSCuc001fuw.2. human.

Organism-specific databases

CTD3766.
GeneCardsGC01M160007.
HGNCHGNC:6256. KCNJ10.
HPACAB022636.
MIM602208. gene.
612780. phenotype.
neXtProtNX_P78508.
Orphanet90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
199343. EAST syndrome.
705. Pendred syndrome.
PharmGKBPA30043.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG284842.
HOGENOMHOG000237326.
HOVERGENHBG006178.
InParanoidP78508.
KOK05003.
OMAQVNVAFQ.
OrthoDBEOG7GFB4Z.
PhylomeDBP78508.
TreeFamTF313676.

Enzyme and pathway databases

ReactomeREACT_13685. Neuronal System.

Gene expression databases

ArrayExpressP78508.
BgeeP78508.
CleanExHS_KCNJ10.
GenevestigatorP78508.

Family and domain databases

Gene3D2.60.40.1400. 1 hit.
InterProIPR014756. 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]
PANTHERPTHR11767. PTHR11767. 1 hit.
PTHR11767:SF21. PTHR11767:SF21. 1 hit.
PfamPF01007. IRK. 1 hit.
[Graphical view]
PIRSFPIRSF005465. GIRK_kir. 1 hit.
PRINTSPR01322. KIR12CHANNEL.
PR01320. KIRCHANNEL.
SUPFAMSSF81296. SSF81296. 1 hit.
ProtoNetSearch...

Other

ChiTaRSKCNJ10. human.
GeneWikiKCNJ10.
GenomeRNAi3766.
NextBio14767.
PROP78508.
SOURCESearch...

Entry information

Entry nameIRK10_HUMAN
AccessionPrimary (citable) accession number: P78508
Secondary accession number(s): A3KME7 expand/collapse secondary AC list , Q5VUT9, Q8N4I7, Q92808
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 1, 1997
Last modified: April 16, 2014
This is version 135 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM