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Protein

ATP-sensitive inward rectifier potassium channel 11

Gene

KCNJ11

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 similarity3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei160Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesiumBy similarity1

GO - Molecular functioni

  • ankyrin binding Source: BHF-UCL
  • ATP-activated inward rectifier potassium channel activity Source: BHF-UCL
  • ATP binding Source: BHF-UCL
  • heat shock protein binding Source: Ensembl
  • ion channel binding Source: BHF-UCL
  • potassium ion binding Source: BHF-UCL
  • protein C-terminus binding Source: Ensembl
  • voltage-gated potassium channel activity Source: BHF-UCL

GO - Biological processi

  • cellular response to glucose stimulus Source: Ensembl
  • cellular response to nicotine Source: Ensembl
  • cellular response to tumor necrosis factor Source: Ensembl
  • glucose metabolic process Source: BHF-UCL
  • negative regulation of insulin secretion Source: BHF-UCL
  • nervous system process Source: BHF-UCL
  • positive regulation of cation channel activity Source: Ensembl
  • positive regulation of protein localization to plasma membrane Source: Ensembl
  • potassium ion import Source: BHF-UCL
  • potassium ion transmembrane transport Source: BHF-UCL
  • regulation of cardiac conduction Source: Reactome
  • regulation of insulin secretion Source: BHF-UCL
  • regulation of membrane potential Source: BHF-UCL
  • response to ATP Source: BHF-UCL
  • response to drug Source: BHF-UCL
  • response to estradiol Source: Ensembl
  • response to ischemia Source: Ensembl
  • response to testosterone Source: Ensembl
  • transmembrane transport Source: Reactome

Keywordsi

Molecular functionIon channel, Voltage-gated channel
Biological processIon transport, Potassium transport, Transport
LigandPotassium

Enzyme and pathway databases

ReactomeiR-HSA-1296025 ATP sensitive Potassium channels
R-HSA-382556 ABC-family proteins mediated transport
R-HSA-422356 Regulation of insulin secretion
R-HSA-5578775 Ion homeostasis
R-HSA-5683177 Defective ABCC8 can cause hypoglycemias and hyperglycemias
SignaLinkiQ14654
SIGNORiQ14654

Protein family/group databases

TCDBi1.A.2.1.17 the inward rectifier k(+) channel (irk-c) family

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000187486.5
HGNCiHGNC:6257 KCNJ11
MIMi600937 gene
neXtProtiNX_Q14654

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 – 68CytoplasmicBy similarityAdd BLAST68
Transmembranei69 – 93Helical; Name=M1By similarityAdd BLAST25
Topological domaini94 – 116ExtracellularBy similarityAdd BLAST23
Intramembranei117 – 128Helical; Pore-forming; Name=H5By similarityAdd BLAST12
Intramembranei129 – 135Pore-formingBy similarity7
Topological domaini136 – 144ExtracellularBy similarity9
Transmembranei145 – 166Helical; Name=M2By similarityAdd BLAST22
Topological domaini167 – 390CytoplasmicBy similarityAdd BLAST224

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Familial hyperinsulinemic hypoglycemia 2 (HHF2)12 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_03132934R → H in HHF2. 1 Publication1
Natural variantiVAR_03133040G → D in HHF2. 1 Publication1
Natural variantiVAR_03133555F → L in HHF2; does neither affect channel expression nor channel response to MgADP. 2 Publications1
Natural variantiVAR_02650667K → N in HHF2. 1 Publication1
Natural variantiVAR_02650791W → R in HHF2. 1 Publication1
Natural variantiVAR_031336101A → D in HHF2. 2 Publications1
Natural variantiVAR_031337116S → P in HHF2. 1 Publication1
Natural variantiVAR_031338134G → A in HHF2. 1 Publication1
Natural variantiVAR_031339136R → L in HHF2. 2 Publications1
Natural variantiVAR_001557147L → P in HHF2. 2 PublicationsCorresponds to variant dbSNP:rs28936678Ensembl.1
Natural variantiVAR_073683156G → R in HHF2. 1 Publication1
Natural variantiVAR_073685204D → E in HHF2. 1 Publication1
Natural variantiVAR_026513254P → L in HHF2; impairs trafficking of the mutant channel. 1 Publication1
Natural variantiVAR_031345259H → R in HHF2; impairs trafficking and abolishes channel function. 1 Publication1
Natural variantiVAR_031346266P → L in HHF2. 1 Publication1
Natural variantiVAR_073687282E → K in HHF2; prevents the ER export and surface expression of the channel. 1 Publication1
Natural variantiVAR_031347301R → H in HHF2. 2 Publications1
Diabetes mellitus, permanent neonatal (PNDM)13 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_02649835F → L in PNDM. 1 Publication1
Natural variantiVAR_02649935F → V in PNDM. 1 Publication1
Natural variantiVAR_03133246H → Y in PNDM; one patient with mild dysmorphic features. 2 Publications1
Natural variantiVAR_02650050R → P in PNDM; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current; one patient with developmental delay. 2 Publications1
Natural variantiVAR_03133350R → Q in PNDM; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current. 2 Publications1
Natural variantiVAR_02650152Q → 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 Publications1
Natural variantiVAR_03133453G → D in PNDM; with developmental delay and epilepsy. 1 Publication1
Natural variantiVAR_02650459V → 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 Publications1
Natural variantiVAR_02650559V → M in PNDM; four patients with developmental delay and muscle weakness. 5 Publications1
Natural variantiVAR_07368160F → Y in PNDM; found in a patient who also carries L-64 in cis; thought to be the pathogenic mutation in this double allele; displays gain of function; increases the intrinsic channel open probability and decreases sensitivity toward ATP inhibition; variant L-64 associated in cis is thought to ameliorate the effect of the Y-60 mutation on the channel ATP sensitivity. 1 Publication1
Natural variantiVAR_07368264V → L in PNDM; found in a patient who also carries Y-60 in cis; unknown pathological significance; only subtle effects, if any, on channel ATP sensitivity; thought to attenuate the deleterious effect of the Y-60 mutation associated in cis on the channel ATP sensitivity. 2 Publications1
Natural variantiVAR_031341164L → P in PNDM. 2 Publications1
Natural variantiVAR_031342166C → Y in PNDM; individual also diagnosed with West syndrome. 1 Publication1
Natural variantiVAR_073684167I → L in PNDM; has severely impaired sensitivity to ATP and markedly increases open channel probability. 1 Publication1
Natural variantiVAR_026508170K → N in PNDM. 1 Publication1
Natural variantiVAR_026509170K → R in PNDM. 1 Publication1
Natural variantiVAR_031343170K → T in PNDM. 1 Publication1
Natural variantiVAR_026511201R → 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 Publications1
Natural variantiVAR_026512201R → H in PNDM; ability of ATP to block mutant channels greatly reduced. 5 Publications1
Natural variantiVAR_031344201R → L in PNDM. 1 Publication1
Natural variantiVAR_026514296I → L in PNDM; with developmental delay and epilepsy. 2 Publications1
Natural variantiVAR_026515322E → K in PNDM. 1 Publication1
Natural variantiVAR_026516330Y → C in PNDM. 2 Publications1
Natural variantiVAR_031348330Y → S in PNDM. 1 Publication1
Natural variantiVAR_026517333F → I in PNDM; alters gating characteristics, decreases sensitivity to inhibition by ATP and increases intrinsic open probability. 2 Publications1
Transient neonatal diabetes mellitus 3 (TNDM3)2 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_03133142C → R in TNDM3; increased spontaneous open probability; reduced ATP sensitivity; reduced expression at the cell surface of the functional ATP-sensitive form. 1 Publication1
Natural variantiVAR_02650253G → R in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication1
Natural variantiVAR_02650353G → S in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication1
Natural variantiVAR_026510182I → V in TNDM3; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication1
Defects in KCNJ11 may contribute to non-insulin-dependent diabetes mellitus (NIDDM), also known as diabetes mellitus type 2.
Maturity-onset diabetes of the young 13 (MODY13)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
See also OMIM:616329
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073686227E → K in MODY13. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi64V → M: Displays gain of function; increased open state stability, reduced ATP sensitivity and increased channel activity; almost completely abolishes high affinity sensitivity to glibenclamide, an inhibitor of ATP-sensitive potassium channels. 1 Publication1

Keywords - Diseasei

Diabetes mellitus, Disease mutation

Organism-specific databases

DisGeNETi3767
GeneReviewsiKCNJ11
MalaCardsiKCNJ11
MIMi601820 phenotype
606176 phenotype
610582 phenotype
616329 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
99989 Intermediate DEND syndrome
552 MODY
99885 Permanent neonatal diabetes mellitus
99886 Transient neonatal diabetes mellitus
PharmGKBiPA217

Chemistry databases

ChEMBLiCHEMBL1886
DrugBankiDB01119 Diazoxide
DB00222 Glimepiride
DB01016 Glyburide
DB00308 Ibutilide
DB00922 Levosimendan
DB01154 Thiamylal
DB00839 Tolazamide
DB00661 Verapamil
DB01392 Yohimbine

Polymorphism and mutation databases

BioMutaiKCNJ11
DMDMi76803775

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001549571 – 390ATP-sensitive inward rectifier potassium channel 11Add BLAST390

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei341Phosphothreonine; by MAPK11 Publication1
Modified residuei385Phosphoserine; by MAPK11 Publication1

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
PeptideAtlasiQ14654
PRIDEiQ14654

PTM databases

iPTMnetiQ14654
PhosphoSitePlusiQ14654

Expressioni

Gene expression databases

BgeeiENSG00000187486
CleanExiHS_KCNJ11
ExpressionAtlasiQ14654 baseline and differential
GenevisibleiQ14654 HS

Organism-specific databases

HPAiHPA048891

Interactioni

Subunit structurei

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

Binary interactionsi

Show more details

GO - Molecular functioni

  • ankyrin binding Source: BHF-UCL
  • heat shock protein binding Source: Ensembl
  • ion channel binding Source: BHF-UCL
  • protein C-terminus binding Source: Ensembl

Protein-protein interaction databases

BioGridi10996912 interactors.
CORUMiQ14654
DIPiDIP-58643N
ELMiQ14654
IntActiQ14654 6 interactors.
STRINGi9606.ENSP00000345708

Chemistry databases

BindingDBiQ14654

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6C3Oelectron microscopy3.90A/B/C/D1-390[»]
6C3Pelectron microscopy5.60A/B/C/D1-390[»]
ProteinModelPortaliQ14654
SMRiQ14654
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi130 – 135Selectivity filterBy similarity6

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3827 Eukaryota
ENOG410XQ62 LUCA
HOGENOMiHOG000237325
HOVERGENiHBG006178
InParanoidiQ14654
KOiK05004
OrthoDBiEOG091G08HC
PhylomeDBiQ14654
TreeFamiTF313676

Family and domain databases

Gene3Di2.60.40.14002 hits
InterProiView protein in InterPro
IPR014756 Ig_E-set
IPR016449 K_chnl_inward-rec_Kir
IPR003279 K_chnl_inward-rec_Kir6.2
IPR013518 K_chnl_inward-rec_Kir_cyto
PANTHERiPTHR11767 PTHR11767, 1 hit
PTHR11767:SF44 PTHR11767:SF44, 1 hit
PfamiView protein in Pfam
PF01007 IRK, 1 hit
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. AlignAdd to basket

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 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti370K → E in BAG63046 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00865910E → K Rare polymorphism. 1 Publication1
Natural variantiVAR_05597818A → G. Corresponds to variant dbSNP:rs41309072Ensembl.1
Natural variantiVAR_00866023E → K Linked to V-337. 6 PublicationsCorresponds to variant dbSNP:rs5219Ensembl.1
Natural variantiVAR_03132934R → H in HHF2. 1 Publication1
Natural variantiVAR_02649835F → L in PNDM. 1 Publication1
Natural variantiVAR_02649935F → V in PNDM. 1 Publication1
Natural variantiVAR_03133040G → D in HHF2. 1 Publication1
Natural variantiVAR_03133142C → R in TNDM3; increased spontaneous open probability; reduced ATP sensitivity; reduced expression at the cell surface of the functional ATP-sensitive form. 1 Publication1
Natural variantiVAR_03133246H → Y in PNDM; one patient with mild dysmorphic features. 2 Publications1
Natural variantiVAR_02650050R → P in PNDM; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current; one patient with developmental delay. 2 Publications1
Natural variantiVAR_03133350R → Q in PNDM; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current. 2 Publications1
Natural variantiVAR_02650152Q → 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 Publications1
Natural variantiVAR_03133453G → D in PNDM; with developmental delay and epilepsy. 1 Publication1
Natural variantiVAR_02650253G → R in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication1
Natural variantiVAR_02650353G → S in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication1
Natural variantiVAR_03133555F → L in HHF2; does neither affect channel expression nor channel response to MgADP. 2 Publications1
Natural variantiVAR_02650459V → 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 Publications1
Natural variantiVAR_02650559V → M in PNDM; four patients with developmental delay and muscle weakness. 5 Publications1
Natural variantiVAR_07368160F → Y in PNDM; found in a patient who also carries L-64 in cis; thought to be the pathogenic mutation in this double allele; displays gain of function; increases the intrinsic channel open probability and decreases sensitivity toward ATP inhibition; variant L-64 associated in cis is thought to ameliorate the effect of the Y-60 mutation on the channel ATP sensitivity. 1 Publication1
Natural variantiVAR_07368264V → L in PNDM; found in a patient who also carries Y-60 in cis; unknown pathological significance; only subtle effects, if any, on channel ATP sensitivity; thought to attenuate the deleterious effect of the Y-60 mutation associated in cis on the channel ATP sensitivity. 2 Publications1
Natural variantiVAR_02650667K → N in HHF2. 1 Publication1
Natural variantiVAR_02650791W → R in HHF2. 1 Publication1
Natural variantiVAR_031336101A → D in HHF2. 2 Publications1
Natural variantiVAR_031337116S → P in HHF2. 1 Publication1
Natural variantiVAR_031338134G → A in HHF2. 1 Publication1
Natural variantiVAR_031339136R → L in HHF2. 2 Publications1
Natural variantiVAR_001557147L → P in HHF2. 2 PublicationsCorresponds to variant dbSNP:rs28936678Ensembl.1
Natural variantiVAR_031340148I → S2 Publications1
Natural variantiVAR_073683156G → R in HHF2. 1 Publication1
Natural variantiVAR_031341164L → P in PNDM. 2 Publications1
Natural variantiVAR_031342166C → Y in PNDM; individual also diagnosed with West syndrome. 1 Publication1
Natural variantiVAR_073684167I → L in PNDM; has severely impaired sensitivity to ATP and markedly increases open channel probability. 1 Publication1
Natural variantiVAR_026508170K → N in PNDM. 1 Publication1
Natural variantiVAR_026509170K → R in PNDM. 1 Publication1
Natural variantiVAR_031343170K → T in PNDM. 1 Publication1
Natural variantiVAR_026510182I → V in TNDM3; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication1
Natural variantiVAR_014929195R → H. Corresponds to variant dbSNP:rs5217Ensembl.1
Natural variantiVAR_026511201R → 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 Publications1
Natural variantiVAR_026512201R → H in PNDM; ability of ATP to block mutant channels greatly reduced. 5 Publications1
Natural variantiVAR_031344201R → L in PNDM. 1 Publication1
Natural variantiVAR_073685204D → E in HHF2. 1 Publication1
Natural variantiVAR_073686227E → K in MODY13. 1 Publication1
Natural variantiVAR_026513254P → L in HHF2; impairs trafficking of the mutant channel. 1 Publication1
Natural variantiVAR_031345259H → R in HHF2; impairs trafficking and abolishes channel function. 1 Publication1
Natural variantiVAR_031346266P → L in HHF2. 1 Publication1
Natural variantiVAR_008661270L → V2 PublicationsCorresponds to variant dbSNP:rs1800467Ensembl.1
Natural variantiVAR_073687282E → K in HHF2; prevents the ER export and surface expression of the channel. 1 Publication1
Natural variantiVAR_026514296I → L in PNDM; with developmental delay and epilepsy. 2 Publications1
Natural variantiVAR_031347301R → H in HHF2. 2 Publications1
Natural variantiVAR_026515322E → K in PNDM. 1 Publication1
Natural variantiVAR_026516330Y → C in PNDM. 2 Publications1
Natural variantiVAR_031348330Y → S in PNDM. 1 Publication1
Natural variantiVAR_026517333F → I in PNDM; alters gating characteristics, decreases sensitivity to inhibition by ATP and increases intrinsic open probability. 2 Publications1
Natural variantiVAR_008662337I → V Linked to K-23. 6 PublicationsCorresponds to variant dbSNP:rs5215Ensembl.1
Natural variantiVAR_008663355L → P in NIDDM; Afro-Caribbean. 1 Publication1
Natural variantiVAR_008664380P → PKP in NIDDM. 1
Natural variantiVAR_008665385S → C1 PublicationCorresponds to variant dbSNP:rs41282930Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0452701 – 87Missing in isoform 2. 2 PublicationsAdd BLAST87

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
UCSCiuc001mna.4 human [Q14654-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiKCJ11_HUMAN
AccessioniPrimary (citable) accession number: Q14654
Secondary accession number(s): B4DWI4
, E9PNK0, Q2M1H7, Q58EX3, Q8IW96
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: September 27, 2005
Last modified: March 28, 2018
This is version 193 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome