Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P78508

- KCJ10_HUMAN

UniProt

P78508 - KCJ10_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

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

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

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
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: 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

  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
Complete GO annotation...

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.
Orphaneti199343. 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

BgeeiP78508.
CleanExiHS_KCNJ10.
ExpressionAtlasiP78508. baseline and differential.
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. 16 interactions.
IntActiP78508. 4 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.
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

        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 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:
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.

Polymorphism databases

DMDMi2493605.

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 .
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. 16 interactions.
IntActi P78508. 4 interactions.
STRINGi 9606.ENSP00000357068.

Chemistry

BindingDBi P78508.
ChEMBLi CHEMBL2146348.
DrugBanki DB01392. Yohimbine.
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 199343. EAST syndrome.
705. Pendred syndrome.
PharmGKBi PA30043.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG284842.
GeneTreei ENSGT00760000118842.
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

Bgeei P78508.
CleanExi HS_KCNJ10.
ExpressionAtlasi P78508. baseline and differential.
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

« 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.

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: November 26, 2014
This is version 142 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