Skip Header

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

UniProtKB - Q14654 (KCJ11_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 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)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
Complete GO annotation...

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
  • neurological system process Source: BHF-UCL
  • positive regulation of cation channel activity Source: Ensembl
  • positive regulation of protein targeting 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
Complete GO annotation...

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:6257. KCNJ11.

Subcellular locationi

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

GO - Cellular componenti

  • acrosomal vesicle Source: Ensembl
  • ATP-sensitive potassium channel complex Source: BHF-UCL
  • axolemma Source: Ensembl
  • cell body fiber Source: Ensembl
  • cytosol Source: Ensembl
  • endoplasmic reticulum Source: Ensembl
  • endosome Source: Ensembl
  • integral component of plasma membrane Source: ProtInc
  • intercalated disc Source: Ensembl
  • mitochondrion Source: Ensembl
  • myelin sheath Source: Ensembl
  • neuronal cell body Source: Ensembl
  • nuclear envelope Source: Ensembl
  • plasma membrane Source: BHF-UCL
  • T-tubule Source: BHF-UCL
  • voltage-gated potassium channel complex Source: BHF-UCL
Complete GO annotation...

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)12 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_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_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; present on the same allele as L-64; increases the intrinsic channel open probability. 1 Publication1
Natural variantiVAR_07368264V → L in PNDM; present on the same allele as Y-60; enhances the ability of MgATP to stimulate channel activity. 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_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

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

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
Complete GO annotation...

Protein-protein interaction databases

BioGridi109969. 12 interactors.
DIPiDIP-58643N.
ELMiQ14654.
IntActiQ14654. 4 interactors.
STRINGi9606.ENSP00000345708.

Chemistry databases

BindingDBiQ14654.

Structurei

3D structure databases

ProteinModelPortaliQ14654.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

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

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

eggNOGiKOG3827. Eukaryota.
ENOG410XQ62. LUCA.
HOGENOMiHOG000237325.
HOVERGENiHBG006178.
InParanoidiQ14654.
KOiK05004.
OrthoDBiEOG091G08HC.
PhylomeDBiQ14654.
TreeFamiTF313676.

Family and domain databases

Gene3Di2.60.40.1400. 1 hit.
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:SF83. PTHR11767:SF83. 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; present on the same allele as L-64; increases the intrinsic channel open probability. 1 Publication1
Natural variantiVAR_07368264V → L in PNDM; present on the same allele as Y-60; enhances the ability of MgATP to stimulate channel activity. 1 Publication1
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: August 30, 2017
This is version 186 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

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