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UniProtKB - Q14654 (KCJ11_HUMAN)

Entry version 215 (02 Jun 2021)
Sequence version 2 (27 Sep 2005)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei160Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesiumBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q14654

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-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-5678420, Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome
R-HSA-5683177, Defective ABCC8 can cause hypo- and hyper-glycemias

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q14654

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q14654

Protein family/group databases

Transport Classification Database

More...TCDBi		1.A.2.1.17, the inward rectifier k(+) channel (irk-c) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KCNJ11
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:6257, KCNJ11

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600937, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q14654

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000187486.5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 68CytoplasmicBy similarityAdd BLAST68
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei69 – 93Helical; Name=M1By similarityAdd BLAST25
Topological domaini94 – 116ExtracellularBy similarityAdd BLAST23
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Familial hyperinsulinemic hypoglycemia 2 (HHF2)12 Publications
The disease is caused by variants 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03132934R → H in HHF2. 1 PublicationCorresponds to variant dbSNP:rs141145502Ensembl.1
Natural variantiVAR_03133040G → D in HHF2. 1 PublicationCorresponds to variant dbSNP:rs1001873841EnsemblClinVar.1
Natural variantiVAR_03133555F → L in HHF2; does neither affect channel expression nor channel response to MgADP. 2 PublicationsCorresponds to variant dbSNP:rs1343400778Ensembl.1
Natural variantiVAR_02650667K → N in HHF2. 1 PublicationCorresponds to variant dbSNP:rs747719667Ensembl.1
Natural variantiVAR_02650791W → R in HHF2. 1 Publication1
Natural variantiVAR_031336101A → D in HHF2. 2 PublicationsCorresponds to variant dbSNP:rs1014454531EnsemblClinVar.1
Natural variantiVAR_031337116S → P in HHF2. 1 Publication1
Natural variantiVAR_031338134G → A in HHF2. 1 Publication1
Natural variantiVAR_031339136R → L in HHF2. 2 PublicationsCorresponds to variant dbSNP:rs1479483693Ensembl.1
Natural variantiVAR_001557147L → P in HHF2. 2 PublicationsCorresponds to variant dbSNP:rs28936678EnsemblClinVar.1
Natural variantiVAR_073683156G → R in HHF2. 1 PublicationCorresponds to variant dbSNP:rs1404429785EnsemblClinVar.1
Natural variantiVAR_073685204D → E in HHF2. 1 PublicationCorresponds to variant dbSNP:rs577757932Ensembl.1
Natural variantiVAR_026513254P → L in HHF2; impairs trafficking of the mutant channel. 1 PublicationCorresponds to variant dbSNP:rs104894237EnsemblClinVar.1
Natural variantiVAR_031345259H → R in HHF2; impairs trafficking and abolishes channel function. 1 PublicationCorresponds to variant dbSNP:rs104894248EnsemblClinVar.1
Natural variantiVAR_031346266P → L in HHF2. 1 PublicationCorresponds to variant dbSNP:rs1554901679EnsemblClinVar.1
Natural variantiVAR_073687282E → K in HHF2; prevents the ER export and surface expression of the channel. 1 PublicationCorresponds to variant dbSNP:rs267607196EnsemblClinVar.1
Natural variantiVAR_031347301R → H in HHF2. 2 PublicationsCorresponds to variant dbSNP:rs74339576EnsemblClinVar.1
Diabetes mellitus, permanent neonatal, 2 (PNDM2)13 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Some PNDM2 patients may also have developmental delay, muscle weakness, epilepsy and dysmorphic features. PNDM2 transmission pattern is consistent with autosomal dominant inheritance.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02649835F → L in PNDM2. 1 PublicationCorresponds to variant dbSNP:rs193929333EnsemblClinVar.1
Natural variantiVAR_02649935F → V in PNDM2. 1 PublicationCorresponds to variant dbSNP:rs193929333EnsemblClinVar.1
Natural variantiVAR_03133246H → Y in PNDM2. 2 Publications1
Natural variantiVAR_02650050R → P in PNDM2; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current. 2 PublicationsCorresponds to variant dbSNP:rs80356611EnsemblClinVar.1
Natural variantiVAR_03133350R → Q in PNDM2; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current. 2 PublicationsCorresponds to variant dbSNP:rs80356611EnsemblClinVar.1
Natural variantiVAR_02650152Q → R in PNDM2; with neurologic features; produces larger current and more change in ATP sensitivity than mutation associated with mild disease C-201. 3 PublicationsCorresponds to variant dbSNP:rs193929337EnsemblClinVar.1
Natural variantiVAR_03133453G → D in PNDM2; with neurologic features. 1 PublicationCorresponds to variant dbSNP:rs80356615EnsemblClinVar.1
Natural variantiVAR_02650459V → G in PNDM2; 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 PublicationsCorresponds to variant dbSNP:rs80356617EnsemblClinVar.1
Natural variantiVAR_02650559V → M in PNDM2; with neurologic features. 5 PublicationsCorresponds to variant dbSNP:rs80356616EnsemblClinVar.1
Natural variantiVAR_07368160F → Y in PNDM2; 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 PublicationCorresponds to variant dbSNP:rs387906783Ensembl.1
Natural variantiVAR_07368264V → L in PNDM2; 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 PublicationsCorresponds to variant dbSNP:rs115716690Ensembl.1
Natural variantiVAR_031341164L → P in PNDM2. 2 Publications1
Natural variantiVAR_031342166C → Y in PNDM2; individual also diagnosed with West syndrome. 1 PublicationCorresponds to variant dbSNP:rs80356618EnsemblClinVar.1
Natural variantiVAR_073684167I → L in PNDM2; has severely impaired sensitivity to ATP and markedly increases open channel probability. 1 PublicationCorresponds to variant dbSNP:rs80356620EnsemblClinVar.1
Natural variantiVAR_026508170K → N in PNDM2. 1 PublicationCorresponds to variant dbSNP:rs80356622EnsemblClinVar.1
Natural variantiVAR_026509170K → R in PNDM2. 1 PublicationCorresponds to variant dbSNP:rs80356621EnsemblClinVar.1
Natural variantiVAR_031343170K → T in PNDM2. 1 Publication1
Natural variantiVAR_026511201R → C in PNDM2; with neurologic features; produces smaller current and less change in ATP sensitivity than mutations associated with severe disease R-52 and G-59. 6 PublicationsCorresponds to variant dbSNP:rs80356625EnsemblClinVar.1
Natural variantiVAR_026512201R → H in PNDM2; ability of ATP to block mutant channels greatly reduced. 5 PublicationsCorresponds to variant dbSNP:rs80356624EnsemblClinVar.1
Natural variantiVAR_031344201R → L in PNDM2. 1 PublicationCorresponds to variant dbSNP:rs80356624EnsemblClinVar.1
Natural variantiVAR_026514296I → L in PNDM2; with neurologic features. 2 PublicationsCorresponds to variant dbSNP:rs193929353EnsemblClinVar.1
Natural variantiVAR_026515322E → K in PNDM2. 1 PublicationCorresponds to variant dbSNP:rs193929355EnsemblClinVar.1
Natural variantiVAR_026516330Y → C in PNDM2. 2 PublicationsCorresponds to variant dbSNP:rs193929356EnsemblClinVar.1
Natural variantiVAR_031348330Y → S in PNDM2. 1 Publication1
Natural variantiVAR_026517333F → I in PNDM2; alters gating characteristics; decreases sensitivity to inhibition by ATP and increases intrinsic open probability. 2 PublicationsCorresponds to variant dbSNP:rs193929357EnsemblClinVar.1
Transient neonatal diabetes mellitus 3 (TNDM3)2 Publications
The disease is caused by variants 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.
Related information in OMIM
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 PublicationCorresponds to variant dbSNP:rs80356610EnsemblClinVar.1
Natural variantiVAR_02650253G → R in TNDM3; reduction in the sensitivity to ATP when compared with wild-type. 1 PublicationCorresponds to variant dbSNP:rs80356613EnsemblClinVar.1
Natural variantiVAR_02650353G → S in TNDM3; reduction in the sensitivity to ATP when compared with wild-type. 1 PublicationCorresponds to variant dbSNP:rs80356613EnsemblClinVar.1
Natural variantiVAR_026510182I → V in TNDM3; reduction in the sensitivity to ATP when compared with wild-type. 1 PublicationCorresponds to variant dbSNP:rs193929348EnsemblClinVar.1
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 variants 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073686227E → K in MODY13. 1 PublicationCorresponds to variant dbSNP:rs587783672EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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 variant

Organism-specific databases

DisGeNET

More...DisGeNETi		3767

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		KCNJ11

MalaCards human disease database

More...MalaCardsi		KCNJ11
MIMi601820, phenotype
610582, phenotype
616329, phenotype
618856, phenotype

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		276580, 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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA217

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q14654, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1886

Drug and drug target database

More...DrugBanki		DB11148, Butamben
DB01119, Diazoxide
DB00222, Glimepiride
DB01016, Glyburide
DB00308, Ibutilide
DB11633, Isavuconazole
DB00922, Levosimendan
DB01154, Thiamylal
DB00839, Tolazamide
DB00661, Verapamil
DB01392, Yohimbine

DrugCentral

More...DrugCentrali		Q14654

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KCNJ11

Domain mapping of disease mutations (DMDM)

More...DMDMi		76803775

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001549571 – 390ATP-sensitive inward rectifier potassium channel 11Add BLAST390

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei341Phosphothreonine; by MAPK11 Publication1
Modified residuei385Phosphoserine; by MAPK11 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q14654

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q14654

PeptideAtlas

More...PeptideAtlasi		Q14654

PRoteomics IDEntifications database

More...PRIDEi		Q14654

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		22438
60093 [Q14654-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q14654

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q14654

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q14654

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000187486, Expressed in gastrocnemius and 118 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q14654, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q14654, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000187486, Tissue enriched (skeletal)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with ABCC8/SUR.

Interacts with ABCC9/SUR2.

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		109969, 17 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-195, Inward rectifying potassium channel complex, Kir6.2-SUR1
CPX-197, Inward rectifying potassium channel complex, Kir6.2-SUR2A
CPX-199, Inward rectifying potassium channel complex, Kir6.2-SUR2B

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q14654

Database of interacting proteins

More...DIPi		DIP-58643N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q14654

Protein interaction database and analysis system

More...IntActi		Q14654, 14 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000345708

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q14654

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q14654, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q14654

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi130 – 135Selectivity filterBy similarity6

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3827, Eukaryota

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_022738_4_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q14654

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q14654

TreeFam database of animal gene trees

More...TreeFami		TF313676

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.1400, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR014756, Ig_E-set
IPR041647, IRK_C
IPR016449, K_chnl_inward-rec_Kir
IPR003279, K_chnl_inward-rec_Kir6.2
IPR013518, K_chnl_inward-rec_Kir_cyto
IPR040445, Kir_TM

The PANTHER Classification System

More...PANTHERi		PTHR11767, PTHR11767, 1 hit
PTHR11767:SF44, PTHR11767:SF44, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01007, IRK, 1 hit
PF17655, IRK_C, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF005465, GIRK_kir, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01332, KIR62CHANNEL
PR01320, KIRCHANNEL

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF81296, SSF81296, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PPF1E9PPF1_HUMAN
ATP-sensitive inward rectifier pota...
KCNJ11
153Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YES9H0YES9_HUMAN
ATP-sensitive inward rectifier pota...
KCNJ11
155Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH40617 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti370K → E in BAG63046 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00865910E → K1 PublicationCorresponds to variant dbSNP:rs587783667EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs141145502Ensembl.1
Natural variantiVAR_02649835F → L in PNDM2. 1 PublicationCorresponds to variant dbSNP:rs193929333EnsemblClinVar.1
Natural variantiVAR_02649935F → V in PNDM2. 1 PublicationCorresponds to variant dbSNP:rs193929333EnsemblClinVar.1
Natural variantiVAR_03133040G → D in HHF2. 1 PublicationCorresponds to variant dbSNP:rs1001873841EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs80356610EnsemblClinVar.1
Natural variantiVAR_03133246H → Y in PNDM2. 2 Publications1
Natural variantiVAR_02650050R → P in PNDM2; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current. 2 PublicationsCorresponds to variant dbSNP:rs80356611EnsemblClinVar.1
Natural variantiVAR_03133350R → Q in PNDM2; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current. 2 PublicationsCorresponds to variant dbSNP:rs80356611EnsemblClinVar.1
Natural variantiVAR_02650152Q → R in PNDM2; with neurologic features; produces larger current and more change in ATP sensitivity than mutation associated with mild disease C-201. 3 PublicationsCorresponds to variant dbSNP:rs193929337EnsemblClinVar.1
Natural variantiVAR_03133453G → D in PNDM2; with neurologic features. 1 PublicationCorresponds to variant dbSNP:rs80356615EnsemblClinVar.1
Natural variantiVAR_02650253G → R in TNDM3; reduction in the sensitivity to ATP when compared with wild-type. 1 PublicationCorresponds to variant dbSNP:rs80356613EnsemblClinVar.1
Natural variantiVAR_02650353G → S in TNDM3; reduction in the sensitivity to ATP when compared with wild-type. 1 PublicationCorresponds to variant dbSNP:rs80356613EnsemblClinVar.1
Natural variantiVAR_03133555F → L in HHF2; does neither affect channel expression nor channel response to MgADP. 2 PublicationsCorresponds to variant dbSNP:rs1343400778Ensembl.1
Natural variantiVAR_02650459V → G in PNDM2; 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 PublicationsCorresponds to variant dbSNP:rs80356617EnsemblClinVar.1
Natural variantiVAR_02650559V → M in PNDM2; with neurologic features. 5 PublicationsCorresponds to variant dbSNP:rs80356616EnsemblClinVar.1
Natural variantiVAR_07368160F → Y in PNDM2; 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 PublicationCorresponds to variant dbSNP:rs387906783Ensembl.1
Natural variantiVAR_07368264V → L in PNDM2; 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 PublicationsCorresponds to variant dbSNP:rs115716690Ensembl.1
Natural variantiVAR_02650667K → N in HHF2. 1 PublicationCorresponds to variant dbSNP:rs747719667Ensembl.1
Natural variantiVAR_02650791W → R in HHF2. 1 Publication1
Natural variantiVAR_031336101A → D in HHF2. 2 PublicationsCorresponds to variant dbSNP:rs1014454531EnsemblClinVar.1
Natural variantiVAR_031337116S → P in HHF2. 1 Publication1
Natural variantiVAR_031338134G → A in HHF2. 1 Publication1
Natural variantiVAR_031339136R → L in HHF2. 2 PublicationsCorresponds to variant dbSNP:rs1479483693Ensembl.1
Natural variantiVAR_001557147L → P in HHF2. 2 PublicationsCorresponds to variant dbSNP:rs28936678EnsemblClinVar.1
Natural variantiVAR_031340148I → S2 Publications1
Natural variantiVAR_073683156G → R in HHF2. 1 PublicationCorresponds to variant dbSNP:rs1404429785EnsemblClinVar.1
Natural variantiVAR_031341164L → P in PNDM2. 2 Publications1
Natural variantiVAR_031342166C → Y in PNDM2; individual also diagnosed with West syndrome. 1 PublicationCorresponds to variant dbSNP:rs80356618EnsemblClinVar.1
Natural variantiVAR_073684167I → L in PNDM2; has severely impaired sensitivity to ATP and markedly increases open channel probability. 1 PublicationCorresponds to variant dbSNP:rs80356620EnsemblClinVar.1
Natural variantiVAR_026508170K → N in PNDM2. 1 PublicationCorresponds to variant dbSNP:rs80356622EnsemblClinVar.1
Natural variantiVAR_026509170K → R in PNDM2. 1 PublicationCorresponds to variant dbSNP:rs80356621EnsemblClinVar.1
Natural variantiVAR_031343170K → T in PNDM2. 1 Publication1
Natural variantiVAR_026510182I → V in TNDM3; reduction in the sensitivity to ATP when compared with wild-type. 1 PublicationCorresponds to variant dbSNP:rs193929348EnsemblClinVar.1
Natural variantiVAR_014929195R → H. Corresponds to variant dbSNP:rs5217EnsemblClinVar.1
Natural variantiVAR_026511201R → C in PNDM2; with neurologic features; produces smaller current and less change in ATP sensitivity than mutations associated with severe disease R-52 and G-59. 6 PublicationsCorresponds to variant dbSNP:rs80356625EnsemblClinVar.1
Natural variantiVAR_026512201R → H in PNDM2; ability of ATP to block mutant channels greatly reduced. 5 PublicationsCorresponds to variant dbSNP:rs80356624EnsemblClinVar.1
Natural variantiVAR_031344201R → L in PNDM2. 1 PublicationCorresponds to variant dbSNP:rs80356624EnsemblClinVar.1
Natural variantiVAR_073685204D → E in HHF2. 1 PublicationCorresponds to variant dbSNP:rs577757932Ensembl.1
Natural variantiVAR_073686227E → K in MODY13. 1 PublicationCorresponds to variant dbSNP:rs587783672EnsemblClinVar.1
Natural variantiVAR_026513254P → L in HHF2; impairs trafficking of the mutant channel. 1 PublicationCorresponds to variant dbSNP:rs104894237EnsemblClinVar.1
Natural variantiVAR_031345259H → R in HHF2; impairs trafficking and abolishes channel function. 1 PublicationCorresponds to variant dbSNP:rs104894248EnsemblClinVar.1
Natural variantiVAR_031346266P → L in HHF2. 1 PublicationCorresponds to variant dbSNP:rs1554901679EnsemblClinVar.1
Natural variantiVAR_008661270L → V2 PublicationsCorresponds to variant dbSNP:rs1800467EnsemblClinVar.1
Natural variantiVAR_073687282E → K in HHF2; prevents the ER export and surface expression of the channel. 1 PublicationCorresponds to variant dbSNP:rs267607196EnsemblClinVar.1
Natural variantiVAR_026514296I → L in PNDM2; with neurologic features. 2 PublicationsCorresponds to variant dbSNP:rs193929353EnsemblClinVar.1
Natural variantiVAR_031347301R → H in HHF2. 2 PublicationsCorresponds to variant dbSNP:rs74339576EnsemblClinVar.1
Natural variantiVAR_026515322E → K in PNDM2. 1 PublicationCorresponds to variant dbSNP:rs193929355EnsemblClinVar.1
Natural variantiVAR_026516330Y → C in PNDM2. 2 PublicationsCorresponds to variant dbSNP:rs193929356EnsemblClinVar.1
Natural variantiVAR_031348330Y → S in PNDM2. 1 Publication1
Natural variantiVAR_026517333F → I in PNDM2; alters gating characteristics; decreases sensitivity to inhibition by ATP and increases intrinsic open probability. 2 PublicationsCorresponds to variant dbSNP:rs193929357EnsemblClinVar.1
Natural variantiVAR_008662337I → V Linked to K-23. 6 PublicationsCorresponds to variant dbSNP:rs5215Ensembl.1
Natural variantiVAR_008663355L → P in NIDDM; Afro-Caribbean. 1 PublicationCorresponds to variant dbSNP:rs797045635EnsemblClinVar.1
Natural variantiVAR_008664380P → PKP in NIDDM. 1
Natural variantiVAR_008665385S → C1 PublicationCorresponds to variant dbSNP:rs41282930EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0452701 – 87Missing in isoform 2. 2 PublicationsAdd BLAST87

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS31436.1 [Q14654-1]
CCDS53606.1 [Q14654-2]

Protein sequence database of the Protein Information Resource

More...PIRi		A57616

NCBI Reference Sequences

More...RefSeqi		NP_001159762.1, NM_001166290.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000339994; ENSP00000345708; ENSG00000187486
ENST00000528731; ENSP00000434755; ENSG00000187486

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3767

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3767

UCSC genome browser

More...UCSCi		uc001mna.4, human [Q14654-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6C3Oelectron microscopy3.90A/B/C/D1-390[»]
6C3Pelectron microscopy5.60A/B/C/D1-390[»]
SMRiQ14654
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi109969, 17 interactors
ComplexPortaliCPX-195, Inward rectifying potassium channel complex, Kir6.2-SUR1
CPX-197, Inward rectifying potassium channel complex, Kir6.2-SUR2A
CPX-199, Inward rectifying potassium channel complex, Kir6.2-SUR2B
CORUMiQ14654
DIPiDIP-58643N
ELMiQ14654
IntActiQ14654, 14 interactors
STRINGi9606.ENSP00000345708

Chemistry databases

BindingDBiQ14654
ChEMBLiCHEMBL1886
DrugBankiDB11148, Butamben
DB01119, Diazoxide
DB00222, Glimepiride
DB01016, Glyburide
DB00308, Ibutilide
DB11633, Isavuconazole
DB00922, Levosimendan
DB01154, Thiamylal
DB00839, Tolazamide
DB00661, Verapamil
DB01392, Yohimbine
DrugCentraliQ14654

Protein family/group databases

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

PTM databases

iPTMnetiQ14654
PhosphoSitePlusiQ14654
SwissPalmiQ14654

Genetic variation databases

BioMutaiKCNJ11
DMDMi76803775

Proteomic databases

MassIVEiQ14654
PaxDbiQ14654
PeptideAtlasiQ14654
PRIDEiQ14654
ProteomicsDBi22438
60093 [Q14654-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		24845, 455 antibodies

The DNASU plasmid repository

More...DNASUi		3767

Genome annotation databases

EnsembliENST00000339994; ENSP00000345708; ENSG00000187486
ENST00000528731; ENSP00000434755; ENSG00000187486
GeneIDi3767
KEGGihsa:3767
UCSCiuc001mna.4, human [Q14654-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3767
DisGeNETi3767

GeneCards: human genes, protein and diseases

More...GeneCardsi		KCNJ11
GeneReviewsiKCNJ11
HGNCiHGNC:6257, KCNJ11
HPAiENSG00000187486, Tissue enriched (skeletal)
MalaCardsiKCNJ11
MIMi600937, gene
601820, phenotype
610582, phenotype
616329, phenotype
618856, 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
99989, Intermediate DEND syndrome
552, MODY
99885, Permanent neonatal diabetes mellitus
99886, Transient neonatal diabetes mellitus
PharmGKBiPA217
VEuPathDBiHostDB:ENSG00000187486.5

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3827, Eukaryota
HOGENOMiCLU_022738_4_0_1
InParanoidiQ14654
PhylomeDBiQ14654
TreeFamiTF313676

Enzyme and pathway databases

PathwayCommonsiQ14654
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-5678420, Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome
R-HSA-5683177, Defective ABCC8 can cause hypo- and hyper-glycemias
SignaLinkiQ14654
SIGNORiQ14654

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		3767, 8 hits in 995 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		KCNJ11, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Kir6.2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		3767
PharosiQ14654, Tclin

Protein Ontology

More...PROi		PR:Q14654
RNActiQ14654, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000187486, Expressed in gastrocnemius and 118 other tissues
ExpressionAtlasiQ14654, baseline and differential
GenevisibleiQ14654, HS

Family and domain databases

Gene3Di2.60.40.1400, 1 hit
InterProiView protein in InterPro
IPR014756, Ig_E-set
IPR041647, IRK_C
IPR016449, K_chnl_inward-rec_Kir
IPR003279, K_chnl_inward-rec_Kir6.2
IPR013518, K_chnl_inward-rec_Kir_cyto
IPR040445, Kir_TM
PANTHERiPTHR11767, PTHR11767, 1 hit
PTHR11767:SF44, PTHR11767:SF44, 1 hit
PfamiView protein in Pfam
PF01007, IRK, 1 hit
PF17655, IRK_C, 1 hit
PIRSFiPIRSF005465, GIRK_kir, 1 hit
PRINTSiPR01332, KIR62CHANNEL
PR01320, KIRCHANNEL
SUPFAMiSSF81296, SSF81296, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKCJ11_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q14654
Secondary accession number(s): B4DWI4
, E9PNK0, Q2M1H7, Q58EX3, Q8IW96
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: September 27, 2005
Last modified: June 2, 2021
This is version 215 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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