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Q14654 - KCJ11_HUMAN

UniProt

Q14654 - KCJ11_HUMAN

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Protein

ATP-sensitive inward rectifier potassium channel 11

Gene

KCNJ11

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

Functioni

This receptor is controlled by G proteins. 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 (By similarity). Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with ABCC9. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation.By similarity2 Publications

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei160 – 1601Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesiumBy similarity

GO - Molecular functioni

  1. ankyrin binding Source: BHF-UCL
  2. ATP-activated inward rectifier potassium channel activity Source: BHF-UCL
  3. ATP binding Source: BHF-UCL
  4. ion channel binding Source: BHF-UCL
  5. potassium ion binding Source: BHF-UCL
  6. voltage-gated potassium channel activity Source: BHF-UCL

GO - Biological processi

  1. cellular response to glucose stimulus Source: Ensembl
  2. cellular response to nicotine Source: Ensembl
  3. cellular response to tumor necrosis factor Source: Ensembl
  4. energy reserve metabolic process Source: Reactome
  5. glucose metabolic process Source: BHF-UCL
  6. negative regulation of insulin secretion Source: BHF-UCL
  7. neurological system process Source: BHF-UCL
  8. positive regulation of cation channel activity Source: Ensembl
  9. potassium ion import Source: BHF-UCL
  10. potassium ion transmembrane transport Source: BHF-UCL
  11. regulation of insulin secretion Source: BHF-UCL
  12. regulation of ion transmembrane transport Source: GO_Central
  13. regulation of membrane potential Source: BHF-UCL
  14. response to ATP Source: BHF-UCL
  15. response to drug Source: BHF-UCL
  16. response to estradiol Source: Ensembl
  17. response to ischemia Source: Ensembl
  18. response to testosterone Source: Ensembl
  19. small molecule metabolic process Source: Reactome
  20. synaptic transmission Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Potassium transport, Transport

Keywords - Ligandi

Potassium

Enzyme and pathway databases

ReactomeiREACT_18325. Regulation of insulin secretion.
REACT_75775. ATP sensitive Potassium channels.
SignaLinkiQ14654.

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-sensitive inward rectifier potassium channel 11
Alternative name(s):
IKATP
Inward rectifier K(+) channel Kir6.2
Potassium channel, inwardly rectifying subfamily J member 11
Gene namesi
Name:KCNJ11
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:6257. KCNJ11.

Subcellular locationi

Membrane; Multi-pass membrane protein

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 6868CytoplasmicBy similarityAdd
BLAST
Transmembranei69 – 9325Helical; Name=M1By similarityAdd
BLAST
Topological domaini94 – 11623ExtracellularBy similarityAdd
BLAST
Intramembranei117 – 12812Helical; Pore-forming; Name=H5By similarityAdd
BLAST
Intramembranei129 – 1357Pore-formingBy similarity
Topological domaini136 – 1449ExtracellularBy similarity
Transmembranei145 – 16622Helical; Name=M2By similarityAdd
BLAST
Topological domaini167 – 390224CytoplasmicBy similarityAdd
BLAST

GO - Cellular componenti

  1. ATP-sensitive potassium channel complex Source: BHF-UCL
  2. axolemma Source: Ensembl
  3. cell body fiber Source: Ensembl
  4. cytosol Source: Ensembl
  5. endoplasmic reticulum Source: Ensembl
  6. endosome Source: Ensembl
  7. integral component of plasma membrane Source: ProtInc
  8. intercalated disc Source: Ensembl
  9. mitochondrion Source: Ensembl
  10. myelin sheath Source: Ensembl
  11. neuronal cell body Source: Ensembl
  12. nuclear envelope Source: Ensembl
  13. plasma membrane Source: BHF-UCL
  14. T-tubule Source: BHF-UCL
  15. voltage-gated potassium channel complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Familial hyperinsulinemic hypoglycemia 210 Publications

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

Disease descriptionMost common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur.

See also OMIM:601820
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti34 – 341R → H in HHF2. 1 Publication
VAR_031329
Natural varianti40 – 401G → D in HHF2. 1 Publication
VAR_031330
Natural varianti55 – 551F → L in HHF2; does neither affect channel expression nor channel response to MgADP. 1 Publication
VAR_031335
Natural varianti67 – 671K → N in HHF2. 1 Publication
VAR_026506
Natural varianti91 – 911W → R in HHF2. 1 Publication
VAR_026507
Natural varianti101 – 1011A → D in HHF2. 2 Publications
VAR_031336
Natural varianti116 – 1161S → P in HHF2. 1 Publication
VAR_031337
Natural varianti134 – 1341G → A in HHF2. 1 Publication
VAR_031338
Natural varianti136 – 1361R → L in HHF2. 2 Publications
VAR_031339
Natural varianti147 – 1471L → P in HHF2. 2 Publications
Corresponds to variant rs28936678 [ dbSNP | Ensembl ].		VAR_001557
Natural varianti254 – 2541P → L in HHF2; impairs trafficking of the mutant channel. 1 Publication
VAR_026513
Natural varianti259 – 2591H → R in HHF2; impairs trafficking and abolishes channel function. 1 Publication
VAR_031345
Natural varianti266 – 2661P → L in HHF2. 1 Publication
VAR_031346
Natural varianti301 – 3011R → H in HHF2. 2 Publications
VAR_031347
Diabetes mellitus, permanent neonatal8 Publications

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

Disease descriptionA rare form of diabetes distinct from childhood-onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy.

See also OMIM:606176
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti35 – 351F → L in PNDM. 1 Publication
VAR_026498
Natural varianti35 – 351F → V in PNDM. 1 Publication
VAR_026499
Natural varianti46 – 461H → Y in PNDM; one patient with mild dysmorphic features. 2 Publications
VAR_031332
Natural varianti50 – 501R → P in PNDM; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current; one patient with developmental delay. 2 Publications
VAR_026500
Natural varianti50 – 501R → Q in PNDM; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current. 2 Publications
VAR_031333
Natural varianti52 – 521Q → R in PNDM; with developmental delay and epilepsy; produces larger current and more change in ATP sensitivity than mutation associated with mild disease C-201. 3 Publications
VAR_026501
Natural varianti53 – 531G → D in PNDM; with developmental delay and epilepsy. 1 Publication
VAR_031334
Natural varianti53 – 531G → R in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication
VAR_026502
Natural varianti53 – 531G → S in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication
VAR_026503
Natural varianti59 – 591V → G in PNDM; with developmental delay and epilepsy; with neurologic features; produces larger current and more change in ATP sensitivity than mutation associated with mild disease C-201; decreases ATP sensitivity indirectly by favoring the open conformation of the channel. 3 Publications
VAR_026504
Natural varianti59 – 591V → M in PNDM; four patients with developmental delay and muscle weakness. 5 Publications
VAR_026505
Natural varianti164 – 1641L → P in PNDM. 2 Publications
VAR_031341
Natural varianti166 – 1661C → Y in PNDM; individual also diagnosed with West syndrome. 1 Publication
VAR_031342
Natural varianti170 – 1701K → N in PNDM. 1 Publication
VAR_026508
Natural varianti170 – 1701K → R in PNDM. 1 Publication
VAR_026509
Natural varianti170 – 1701K → T in PNDM. 1 Publication
VAR_031343
Natural varianti201 – 2011R → C in PNDM; two individuals with developmental delay; produces smaller current and less change in ATP sensitivity than mutations associated with severe disease R-52 and G-59. 6 Publications
VAR_026511
Natural varianti201 – 2011R → H in PNDM; ability of ATP to block mutant channels greatly reduced. 5 Publications
VAR_026512
Natural varianti201 – 2011R → L in PNDM. 1 Publication
VAR_031344
Natural varianti296 – 2961I → L in PNDM; with developmental delay and epilepsy. 2 Publications
VAR_026514
Natural varianti322 – 3221E → K in PNDM. 1 Publication
VAR_026515
Natural varianti330 – 3301Y → C in PNDM. 2 Publications
VAR_026516
Natural varianti330 – 3301Y → S in PNDM. 1 Publication
VAR_031348
Natural varianti333 – 3331F → I in PNDM; alters gating characteristics, decreases sensitivity to inhibition by ATP and increases intrinsic open probability. 2 Publications
VAR_026517
Transient neonatal diabetes mellitus 32 Publications

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

Disease descriptionNeonatal diabetes mellitus, defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. In a significant number of patients with transient neonatal diabetes mellitus, diabetes type 2 appears later in life. The onset and severity of TNDM3 is variable with childhood-onset diabetes, gestational diabetes or adult-onset diabetes described.

See also OMIM:610582
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti42 – 421C → R in TNDM3; increased spontaneous open probability; reduced ATP sensitivity; reduced expression at the cell surface of the functional ATP-sensitive form. 1 Publication
VAR_031331
Natural varianti53 – 531G → R in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication
VAR_026502
Natural varianti53 – 531G → S in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication
VAR_026503
Natural varianti182 – 1821I → V in TNDM3; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication
VAR_026510

Defects in KCNJ11 may contribute to non-insulin-dependent diabetes mellitus (NIDDM), also known as diabetes mellitus type 2.

Keywords - Diseasei

Diabetes mellitus, Disease mutation

Organism-specific databases

MIMi601820. phenotype.
606176. phenotype.
610582. phenotype.
Orphaneti276580. Autosomal dominant hyperinsulinism due to Kir6.2 deficiency.
79644. Autosomal recessive hyperinsulinism due to Kir6.2 deficiency.
79134. DEND syndrome.
276603. Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency.
552. MODY syndrome.
99885. Permanent neonatal diabetes mellitus.
99886. Transient neonatal diabetes mellitus.
PharmGKBiPA217.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 390390ATP-sensitive inward rectifier potassium channel 11PRO_0000154957Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei341 – 3411Phosphothreonine; by MAPK11 Publication
Modified residuei385 – 3851Phosphoserine; by MAPK11 Publication

Post-translational modificationi

Phosphorylation by MAPK1 results in changes in channel gating that destabilize the closed states and reduce the ATP sensitivity.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ14654.
PRIDEiQ14654.

PTM databases

PhosphoSiteiQ14654.

Expressioni

Gene expression databases

BgeeiQ14654.
CleanExiHS_KCNJ11.
ExpressionAtlasiQ14654. baseline and differential.
GenevestigatoriQ14654.

Organism-specific databases

HPAiHPA048891.

Interactioni

Subunit structurei

Interacts with ABCC8/SUR. Interacts with ABCC9/SUR2.2 Publications

Protein-protein interaction databases

DIPiDIP-58643N.
IntActiQ14654. 1 interaction.
STRINGi9606.ENSP00000345708.

Structurei

3D structure databases

ProteinModelPortaliQ14654.
SMRiQ14654. Positions 32-356.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi130 – 1356Selectivity filterBy similarity

Sequence similaritiesi

Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ11 subfamily. [View classification]Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG72812.
HOGENOMiHOG000237325.
HOVERGENiHBG006178.
InParanoidiQ14654.
KOiK05004.
OrthoDBiEOG7XPZ5K.
PhylomeDBiQ14654.
TreeFamiTF313676.

Family and domain databases

Gene3Di2.60.40.1400. 1 hit.
InterProiIPR014756. Ig_E-set.
IPR016449. K_chnl_inward-rec_Kir.
IPR003279. K_chnl_inward-rec_Kir6.2.
IPR013518. K_chnl_inward-rec_Kir_cyto.
[Graphical view]
PANTHERiPTHR11767. PTHR11767. 1 hit.
PTHR11767:SF44. PTHR11767:SF44. 1 hit.
PfamiPF01007. IRK. 1 hit.
[Graphical view]
PIRSFiPIRSF005465. GIRK_kir. 1 hit.
PRINTSiPR01332. KIR62CHANNEL.
PR01320. KIRCHANNEL.
SUPFAMiSSF81296. SSF81296. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q14654-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLSRKGIIPE EYVLTRLAED PAEPRYRARQ RRARFVSKKG NCNVAHKNIR 
        60         70         80         90        100
EQGRFLQDVF TTLVDLKWPH TLLIFTMSFL CSWLLFAMAW WLIAFAHGDL 
       110        120        130        140        150
APSEGTAEPC VTSIHSFSSA FLFSIEVQVT IGFGGRMVTE ECPLAILILI 
       160        170        180        190        200
VQNIVGLMIN AIMLGCIFMK TAQAHRRAET LIFSKHAVIA LRHGRLCFML 
       210        220        230        240        250
RVGDLRKSMI ISATIHMQVV RKTTSPEGEV VPLHQVDIPM ENGVGGNSIF 
       260        270        280        290        300
LVAPLIIYHV IDANSPLYDL APSDLHHHQD LEIIVILEGV VETTGITTQA 
       310        320        330        340        350
RTSYLADEIL WGQRFVPIVA EEDGRYSVDY SKFGNTIKVP TPLCTARQLD 
       360        370        380        390
EDHSLLEALT LASARGPLRK RSVPMAKAKP KFSISPDSLS
Length:390
Mass (Da):43,541
Last modified:September 27, 2005 - v2
Checksum:i8345E7DBCE897344
GO
Isoform 2 (identifier: Q14654-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-87: Missing.

Show »
Length:303
Mass (Da):33,263
Checksum:iCBB99A32291CD64B
GO

Sequence cautioni

The sequence AAH40617.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti370 – 3701K → E in BAG63046. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti10 – 101E → K Rare polymorphism. 1 Publication
VAR_008659
Natural varianti18 – 181A → G.
Corresponds to variant rs41309072 [ dbSNP | Ensembl ].		VAR_055978
Natural varianti23 – 231E → K Linked to V-337. 6 Publications
Corresponds to variant rs5219 [ dbSNP | Ensembl ].		VAR_008660
Natural varianti34 – 341R → H in HHF2. 1 Publication
VAR_031329
Natural varianti35 – 351F → L in PNDM. 1 Publication
VAR_026498
Natural varianti35 – 351F → V in PNDM. 1 Publication
VAR_026499
Natural varianti40 – 401G → D in HHF2. 1 Publication
VAR_031330
Natural varianti42 – 421C → R in TNDM3; increased spontaneous open probability; reduced ATP sensitivity; reduced expression at the cell surface of the functional ATP-sensitive form. 1 Publication
VAR_031331
Natural varianti46 – 461H → Y in PNDM; one patient with mild dysmorphic features. 2 Publications
VAR_031332
Natural varianti50 – 501R → P in PNDM; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current; one patient with developmental delay. 2 Publications
VAR_026500
Natural varianti50 – 501R → Q in PNDM; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current. 2 Publications
VAR_031333
Natural varianti52 – 521Q → R in PNDM; with developmental delay and epilepsy; produces larger current and more change in ATP sensitivity than mutation associated with mild disease C-201. 3 Publications
VAR_026501
Natural varianti53 – 531G → D in PNDM; with developmental delay and epilepsy. 1 Publication
VAR_031334
Natural varianti53 – 531G → R in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication
VAR_026502
Natural varianti53 – 531G → S in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication
VAR_026503
Natural varianti55 – 551F → L in HHF2; does neither affect channel expression nor channel response to MgADP. 1 Publication
VAR_031335
Natural varianti59 – 591V → G in PNDM; with developmental delay and epilepsy; with neurologic features; produces larger current and more change in ATP sensitivity than mutation associated with mild disease C-201; decreases ATP sensitivity indirectly by favoring the open conformation of the channel. 3 Publications
VAR_026504
Natural varianti59 – 591V → M in PNDM; four patients with developmental delay and muscle weakness. 5 Publications
VAR_026505
Natural varianti67 – 671K → N in HHF2. 1 Publication
VAR_026506
Natural varianti91 – 911W → R in HHF2. 1 Publication
VAR_026507
Natural varianti101 – 1011A → D in HHF2. 2 Publications
VAR_031336
Natural varianti116 – 1161S → P in HHF2. 1 Publication
VAR_031337
Natural varianti134 – 1341G → A in HHF2. 1 Publication
VAR_031338
Natural varianti136 – 1361R → L in HHF2. 2 Publications
VAR_031339
Natural varianti147 – 1471L → P in HHF2. 2 Publications
Corresponds to variant rs28936678 [ dbSNP | Ensembl ].		VAR_001557
Natural varianti148 – 1481I → S.2 Publications
VAR_031340
Natural varianti164 – 1641L → P in PNDM. 2 Publications
VAR_031341
Natural varianti166 – 1661C → Y in PNDM; individual also diagnosed with West syndrome. 1 Publication
VAR_031342
Natural varianti170 – 1701K → N in PNDM. 1 Publication
VAR_026508
Natural varianti170 – 1701K → R in PNDM. 1 Publication
VAR_026509
Natural varianti170 – 1701K → T in PNDM. 1 Publication
VAR_031343
Natural varianti182 – 1821I → V in TNDM3; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication
VAR_026510
Natural varianti195 – 1951R → H.
Corresponds to variant rs5217 [ dbSNP | Ensembl ].		VAR_014929
Natural varianti201 – 2011R → C in PNDM; two individuals with developmental delay; produces smaller current and less change in ATP sensitivity than mutations associated with severe disease R-52 and G-59. 6 Publications
VAR_026511
Natural varianti201 – 2011R → H in PNDM; ability of ATP to block mutant channels greatly reduced. 5 Publications
VAR_026512
Natural varianti201 – 2011R → L in PNDM. 1 Publication
VAR_031344
Natural varianti254 – 2541P → L in HHF2; impairs trafficking of the mutant channel. 1 Publication
VAR_026513
Natural varianti259 – 2591H → R in HHF2; impairs trafficking and abolishes channel function. 1 Publication
VAR_031345
Natural varianti266 – 2661P → L in HHF2. 1 Publication
VAR_031346
Natural varianti270 – 2701L → V.2 Publications
Corresponds to variant rs1800467 [ dbSNP | Ensembl ].		VAR_008661
Natural varianti296 – 2961I → L in PNDM; with developmental delay and epilepsy. 2 Publications
VAR_026514
Natural varianti301 – 3011R → H in HHF2. 2 Publications
VAR_031347
Natural varianti322 – 3221E → K in PNDM. 1 Publication
VAR_026515
Natural varianti330 – 3301Y → C in PNDM. 2 Publications
VAR_026516
Natural varianti330 – 3301Y → S in PNDM. 1 Publication
VAR_031348
Natural varianti333 – 3331F → I in PNDM; alters gating characteristics, decreases sensitivity to inhibition by ATP and increases intrinsic open probability. 2 Publications
VAR_026517
Natural varianti337 – 3371I → V Linked to K-23. 6 Publications
Corresponds to variant rs5215 [ dbSNP | Ensembl ].		VAR_008662
Natural varianti355 – 3551L → P in NIDDM; Afro-Caribbean. 1 Publication
VAR_008663
Natural varianti380 – 3801P → PKP in NIDDM.
VAR_008664
Natural varianti385 – 3851S → C.1 Publication
Corresponds to variant rs41282930 [ dbSNP | Ensembl ].		VAR_008665

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 8787Missing in isoform 2. 2 PublicationsVSP_045270Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D50582 Genomic DNA. Translation: BAA09131.1.
AK301550 mRNA. Translation: BAG63046.1.
AC124798 Genomic DNA. No translation available.
BC064497 mRNA. Translation: AAH64497.1.
BC040617 mRNA. Translation: AAH40617.1. Different initiation.
BC112358 mRNA. Translation: AAI12359.1.
CCDSiCCDS31436.1. [Q14654-1]
CCDS53606.1. [Q14654-2]
PIRiA57616.
RefSeqiNP_001159762.1. NM_001166290.1.
UniGeneiHs.248141.

Genome annotation databases

EnsembliENST00000339994; ENSP00000345708; ENSG00000187486.
ENST00000528731; ENSP00000434755; ENSG00000187486.
GeneIDi3767.
KEGGihsa:3767.

Polymorphism databases

DMDMi76803775.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D50582 Genomic DNA. Translation: BAA09131.1.
AK301550 mRNA. Translation: BAG63046.1.
AC124798 Genomic DNA. No translation available.
BC064497 mRNA. Translation: AAH64497.1.
BC040617 mRNA. Translation: AAH40617.1. Different initiation.
BC112358 mRNA. Translation: AAI12359.1.
CCDSiCCDS31436.1. [Q14654-1]
CCDS53606.1. [Q14654-2]
PIRiA57616.
RefSeqiNP_001159762.1. NM_001166290.1.
UniGeneiHs.248141.

3D structure databases

ProteinModelPortaliQ14654.
SMRiQ14654. Positions 32-356.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

DIPiDIP-58643N.
IntActiQ14654. 1 interaction.
STRINGi9606.ENSP00000345708.

Chemistry

BindingDBiQ14654.
ChEMBLiCHEMBL2095198.
DrugBankiDB01119. Diazoxide.
DB00222. Glimepiride.
DB01016. Glyburide.
DB00308. Ibutilide.
DB00922. Levosimendan.
DB01154. Thiamylal.
DB00661. Verapamil.
DB01392. Yohimbine.
GuidetoPHARMACOLOGYi442.

PTM databases

PhosphoSiteiQ14654.

Polymorphism databases

DMDMi76803775.

Proteomic databases

PaxDbiQ14654.
PRIDEiQ14654.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000339994; ENSP00000345708; ENSG00000187486.
ENST00000528731; ENSP00000434755; ENSG00000187486.
GeneIDi3767.
KEGGihsa:3767.

Organism-specific databases

CTDi3767.
GeneCardsiGC11M017406.
GeneReviewsiKCNJ11.
H-InvDBHIX0035982.
HGNCiHGNC:6257. KCNJ11.
HPAiHPA048891.
MIMi600937. gene.
601820. phenotype.
606176. phenotype.
610582. phenotype.
neXtProtiNX_Q14654.
Orphaneti276580. Autosomal dominant hyperinsulinism due to Kir6.2 deficiency.
79644. Autosomal recessive hyperinsulinism due to Kir6.2 deficiency.
79134. DEND syndrome.
276603. Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency.
552. MODY syndrome.
99885. Permanent neonatal diabetes mellitus.
99886. Transient neonatal diabetes mellitus.
PharmGKBiPA217.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG72812.
HOGENOMiHOG000237325.
HOVERGENiHBG006178.
InParanoidiQ14654.
KOiK05004.
OrthoDBiEOG7XPZ5K.
PhylomeDBiQ14654.
TreeFamiTF313676.

Enzyme and pathway databases

ReactomeiREACT_18325. Regulation of insulin secretion.
REACT_75775. ATP sensitive Potassium channels.
SignaLinkiQ14654.

Miscellaneous databases

GeneWikiiKir6.2.
GenomeRNAii3767.
NextBioi14771.
PROiQ14654.
SOURCEiSearch...

Gene expression databases

BgeeiQ14654.
CleanExiHS_KCNJ11.
ExpressionAtlasiQ14654. baseline and differential.
GenevestigatoriQ14654.

Family and domain databases

Gene3Di2.60.40.1400. 1 hit.
InterProiIPR014756. Ig_E-set.
IPR016449. K_chnl_inward-rec_Kir.
IPR003279. K_chnl_inward-rec_Kir6.2.
IPR013518. K_chnl_inward-rec_Kir_cyto.
[Graphical view]
PANTHERiPTHR11767. PTHR11767. 1 hit.
PTHR11767:SF44. PTHR11767:SF44. 1 hit.
PfamiPF01007. IRK. 1 hit.
[Graphical view]
PIRSFiPIRSF005465. GIRK_kir. 1 hit.
PRINTSiPR01332. KIR62CHANNEL.
PR01320. KIRCHANNEL.
SUPFAMiSSF81296. SSF81296. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor."
    Inagaki N., Gonoi T., Clement J.P. IV, Namba N., Inazawa J., Gonzalez G., Aguilar-Bryan L., Seino S., Bryan J.
    Science 270:1166-1170(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT SER-148.
    Tissue: Placenta.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Mammary gland.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS LYS-23 AND VAL-337.
  4. "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] (ISOFORMS 1 AND 2).
    Tissue: Ovary and Spleen.
  5. "Reconstituted human cardiac KATP channels: functional identity with the native channels from the sarcolemma of human ventricular cells."
    Babenko A.P., Gonzalez G., Aguilar-Bryan L., Bryan J.
    Circ. Res. 83:1132-1143(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH ABCC9.
  6. "Molecular basis for Kir6.2 channel inhibition by adenine nucleotides."
    Ribalet B., John S.A., Weiss J.N.
    Biophys. J. 84:266-276(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: MOLECULAR BASIS OF ATP SENSITIVITY.
  7. "Congenital hyperinsulinism: molecular basis of a heterogeneous disease."
    Meissner T., Beinbrech B., Mayatepek E.
    Hum. Mutat. 13:351-361(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON VARIANTS.
  8. "A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit."
    Tammaro P., Ashcroft F.M.
    J. Physiol. (Lond.) 584:743-753(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, CHARACTERIZATION OF VARIANT PNDM ILE-333, INTERACTION WITH ABCC9.
  9. "Functional modulation of the ATP-sensitive potassium channel by extracellular signal-regulated kinase-mediated phosphorylation."
    Lin Y.F., Chai Y.
    Neuroscience 152:371-380(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT THR-341 AND SER-385.
  10. "Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy."
    Thomas P.M., Cote G.J., Hallman D.M., Mathew P.M.
    Am. J. Hum. Genet. 56:416-421(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HHF2 PRO-147.
  11. "Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy."
    Thomas P., Ye Y., Lightner E.
    Hum. Mol. Genet. 5:1809-1812(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HHF2 PRO-147.
  12. "Sequence variations in the human Kir6.2 gene, a subunit of the beta-cell ATP-sensitive K-channel: no association with NIDDM in white Caucasian subjects or evidence of abnormal function when expressed in vitro."
    Sakura H., Wat N., Horton V., Millns H., Turner R.C., Ashcroft F.M.
    Diabetologia 39:1233-1236(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NIDDM PRO-355 AND LYS-PRO-380 INS, VARIANTS LYS-23; VAL-270; VAL-337 AND CYS-385.
  13. "Sequence variants in the pancreatic islet beta-cell inwardly rectifying K+ channel Kir6.2 (Bir) gene: identification and lack of role in Caucasian patients with NIDDM."
    Inoue H., Ferrer J., Warren-Perry M., Zhang Y., Millns H., Turner R.C., Elbein S.C., Hampe C.L., Suarez B.K., Inagaki N., Seino S., Permutt M.A.
    Diabetes 46:502-507(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LYS-10; LYS-23; VAL-270 AND VAL-337.
  14. "Molecular biology of adenosine triphosphate-sensitive potassium channels."
    Aguilar-Bryan L., Bryan J.
    Endocr. Rev. 20:101-135(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HHF2 ARG-91.
  15. "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis."
    Halushka M.K., Fan J.-B., Bentley K., Hsie L., Shen N., Weder A., Cooper R., Lipshutz R., Chakravarti A.
    Nat. Genet. 22:239-247(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LYS-23 AND VAL-337.
  16. Cited for: VARIANT HHF2 ASN-67.
  17. "Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy."
    Sagen J.V., Raeder H., Hathout E., Shehadeh N., Gudmundsson K., Baevre H., Abuelo D., Phornphutkul C., Molnes J., Bell G.I., Gloyn A.L., Hattersley A.T., Molven A., Soevik O., Njoelstad P.R.
    Diabetes 53:2713-2718(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PNDM VAL-35; MET-59; HIS-201; CYS-330 AND ILE-333.
  18. "Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients."
    Vaxillaire M., Populaire C., Busiah K., Cave H., Gloyn A.L., Hattersley A.T., Czernichow P., Froguel P., Polak M.
    Diabetes 53:2719-2722(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PNDM LEU-35; MET-59; CYS-201; HIS-201; LYS-322 AND CYS-330.
  19. "Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel."
    Gloyn A.L., Cummings E.A., Edghill E.L., Harries L.W., Scott R., Costa T., Temple I.K., Hattersley A.T., Ellard S.
    J. Clin. Endocrinol. Metab. 89:3932-3935(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PNDM CYS-201.
  20. Cited for: VARIANT HHF2 LEU-254, CHARACTERIZATION OF VARIANT HHF2 LEU-254.
  21. Cited for: VARIANTS PNDM ARG-52; GLY-59; MET-59; HIS-201; CYS-201 AND LEU-296, CHARACTERIZATION OF VARIANT PNDM HIS-201.
  22. Erratum
    Gloyn A.L., Pearson E.R., Antcliff J.F., Proks P., Bruining G.J., Slingerland A.S., Howard N., Srinivasan S., Silva J.M.C.L., Molnes J., Edghill E.L., Frayling T.M., Temple I.K., Mackay D., Shield J.P.H., Sumnik Z., van Rhijn A., Wales J.K.H.
    , Clark P., Gorman S., Aisenberg J., Ellard S., Njoelstad P.R., Ashcroft F.M., Hattersley A.T.
    N. Engl. J. Med. 351:1470-1470(2004)
  23. "Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features."
    Proks P., Antcliff J.F., Lippiat J., Gloyn A.L., Hattersley A.T., Ashcroft F.M.
    Proc. Natl. Acad. Sci. U.S.A. 101:17539-17544(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS PNDM ARG-52; GLY-59 AND CYS-201.
  24. "Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy."
    Ohkubo K., Nagashima M., Naito Y., Taguchi T., Suita S., Okamoto N., Fujinaga H., Tsumura K., Kikuchi K., Ono J.
    Clin. Endocrinol. (Oxf.) 62:458-465(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HHF2 HIS-34, VARIANTS LYS-23; SER-148 AND VAL-337.
  25. Cited for: VARIANTS TNDM3 SER-53; ARG-53 AND VAL-182, CHARACTERIZATION OF VARIANTS TNDM3 SER-53; ARG-53 AND VAL-182.
  26. Cited for: VARIANTS PNDM PRO-50; MET-59; ARG-170; ASN-170 AND CYS-201.
  27. "Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes."
    Henwood M.J., Kelly A., MacMullen C., Bhatia P., Ganguly A., Thornton P.S., Stanley C.A.
    J. Clin. Endocrinol. Metab. 90:789-794(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHF2 ASP-101; ALA-134; LEU-136; LEU-266 AND HIS-301.
  28. "The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus."
    Yorifuji T., Nagashima K., Kurokawa K., Kawai M., Oishi M., Akazawa Y., Hosokawa M., Yamada Y., Inagaki N., Nakahata T.
    J. Clin. Endocrinol. Metab. 90:3174-3178(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TNDM3 ARG-42, CHARACTERIZATION OF VARIANT TNDM3 ARG-42.
  29. "Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function."
    Marthinet E., Bloc A., Oka Y., Tanizawa Y., Wehrle-Haller B., Bancila V., Dubuis J.-M., Philippe J., Schwitzgebel V.M.
    J. Clin. Endocrinol. Metab. 90:5401-5406(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HHF2 ARG-259, CHARACTERIZATION OF VARIANT HHF2 ARG-259.
  30. "Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects."
    Shimomura K., Girard C.A.J., Proks P., Nazim J., Lippiat J.D., Cerutti F., Lorini R., Ellard S., Hattersely A.T., Barbetti F., Ashcroft F.M.
    Diabetes 55:1705-1712(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PNDM GLN-50 AND PRO-50, CHARACTERIZATION OF VARIANTS PNDM GLN-50 AND PRO-50.
  31. "Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype."
    Flanagan S.E., Edghill E.L., Gloyn A.L., Ellard S., Hattersley A.T.
    Diabetologia 49:1190-1197(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PNDM TYR-46; GLN-50; ARG-52; ASP-53; GLY-59; MET-59; PRO-164; TYR-166; THR-170; CYS-201; HIS-201; LEU-201; LEU-296 AND SER-330.
  32. "Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI)."
    Fernandez-Marmiesse A., Salas A., Vega A., Fernandez-Lorenzo J.R., Barreiro J., Carracedo A.
    Hum. Mutat. 27:214-214(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LYS-23 AND VAL-337.
  33. "A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels."
    Lin Y.-W., MacMullen C., Ganguly A., Stanley C.A., Shyng S.-L.
    J. Biol. Chem. 281:3006-3012(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HHF2 LEU-55, CHARACTERIZATION OF VARIANT HHF2 LEU-55.
  34. "Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism."
    Suchi M., MacMullen C.M., Thornton P.S., Adzick N.S., Ganguly A., Ruchelli E.D., Stanley C.A.
    Mod. Pathol. 19:122-129(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHF2 ASP-40; ASP-101; PRO-116; LEU-136 AND HIS-301.
  35. "Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers."
    Stanik J., Gasperikova D., Paskova M., Barak L., Javorkova J., Jancova E., Ciljakova M., Hlava P., Michalek J., Flanagan S.E., Pearson E., Hattersley A.T., Ellard S., Klimes I.
    J. Clin. Endocrinol. Metab. 92:1276-1282(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PNDM TYR-46; PRO-164 AND HIS-201.
+Additional computationally mapped references.

Entry informationi

Entry nameiKCJ11_HUMAN
AccessioniPrimary (citable) accession number: Q14654
Secondary accession number(s): B4DWI4
, E9PNK0, Q2M1H7, Q58EX3, Q8IW96
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: September 27, 2005
Last modified: February 4, 2015
This is version 161 of the entry and version 2 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 11
    Human chromosome 11: 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.