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Entry version 179 (13 Feb 2019)
Sequence version 1 (01 Nov 1996)
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Protein

ATP-sensitive inward rectifier potassium channel 8

Gene

KCNJ8

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 potassium channel 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 external barium (By similarity).By similarity1 Publication

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>Sitei170Role 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

  • ATP-activated inward rectifier potassium channel activity Source: BHF-UCL
  • ATP binding Source: Ensembl
  • inward rectifier potassium channel activity Source: GO_Central
  • sulfonylurea receptor binding Source: Ensembl
  • voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization Source: BHF-UCL

GO - Biological processi

<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

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1296025 ATP sensitive Potassium channels

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.2.1.13 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_and_taxonomy_section">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 8
Alternative name(s):
Inward rectifier K(+) channel Kir6.1
Potassium channel, inwardly rectifying subfamily J member 8
uKATP-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:KCNJ8
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000121361.3

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6269 KCNJ8

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600935 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q15842

<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

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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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 – 69CytoplasmicBy similarityAdd BLAST69
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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>Transmembranei70 – 94Helical; Name=M1By similarityAdd BLAST25
Topological domaini95 – 126ExtracellularBy similarityAdd BLAST32
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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>Intramembranei127 – 138Helical; Pore-forming; Name=H5By similarityAdd BLAST12
Intramembranei139 – 145Pore-formingBy similarity7
Topological domaini146 – 154ExtracellularBy similarity9
Transmembranei155 – 176Helical; Name=M2By similarityAdd BLAST22
Topological domaini177 – 424CytoplasmicBy similarityAdd BLAST248

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

Defects in KCNJ8 may be associated with susceptibility to J-wave syndromes, a group of heart disorders characterized by early repolarization events as indicated by abnormal J-wave manifestation on electrocardiogram (ECG). The J point denotes the junction of the QRS complex and the ST segment on the ECG, marking the end of depolarization and the beginning of repolarization. An abnormal J wave is a deflection with a dome or hump morphology immediately following the QRS complex of the surface ECG. Examples of J-wave disorders are arrhythmias associated with an early repolarization pattern in the inferior or mid to lateral precordial leads, Brugada syndrome, some cases of idiopathic ventricular fibrillation (VF) with an early repolarization pattern in the inferior, inferolateral or global leads, as well as arrhythmias associated with hypothermia.1 Publication
Sudden infant death syndrome (SIDS)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionSIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive.
See also OMIM:272120
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_065878332Missing in SIDS; the mutant channel displays reduced potassium currents compared to wild type. 1 Publication1
Natural variantiVAR_065879346V → I in SIDS; the mutant channel displays reduced potassium currents compared to wild type. 1 PublicationCorresponds to variant dbSNP:rs147316959EnsemblClinVar.1
Hypertrichotic osteochondrodysplasia (HTOCD)3 Publications
The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
Disease descriptionA rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair, which extends onto the forehead, and a general increase in body hair. In addition, macrocephaly and coarse facial features, including a broad nasal bridge, epicanthal folds, a wide mouth, and full lips, can be suggestive of a storage disorder. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat. Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in approximately 80% of cases. Motor development is usually delayed due to hypotonia. Most patients have a mild speech delay, and a small percentage have learning difficulties or intellectual disability.
See also OMIM:239850
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07951865V → M in HTOCD; unknown pathological significance; displays gain of function; increased open state stability, reduced sensitivity to ATP inhibition and increased channel activity; almost completely abolishes high affinity sensitivity to glibenclamide, an inhibitor of ATP-sensitive potassium channels. 2 PublicationsCorresponds to variant dbSNP:rs606231263EnsemblClinVar.1
Natural variantiVAR_075226176C → S in HTOCD; unknown pathological significance; displays gain of function; displays reduced ATP sensitivity. 1 PublicationCorresponds to variant dbSNP:rs606231264EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi65V → L: No effect on channel activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
3764

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

More...
GeneReviewsi
KCNJ8

MalaCards human disease database

More...
MalaCardsi
KCNJ8
MIMi239850 phenotype
272120 phenotype

Open Targets

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OpenTargetsi
ENSG00000121361

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

More...
Orphaneti
130 Brugada syndrome
1517 Hypertrichotic osteochondrodysplasia, Cantu type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA30050

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4770

Drug and drug target database

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DrugBanki
DB01251 Gliquidone
DB01289 Glisoxepide
DB01016 Glyburide
DB00922 Levosimendan
DB00914 Phenformin
DB01154 Thiamylal
DB01392 Yohimbine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KCNJ8

Domain mapping of disease mutations (DMDM)

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DMDMi
2493600

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001549471 – 424ATP-sensitive inward rectifier potassium channel 8Add BLAST424

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 residuei6PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q15842

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

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PaxDbi
Q15842

PeptideAtlas

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PeptideAtlasi
Q15842

PRoteomics IDEntifications database

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PRIDEi
Q15842

ProteomicsDB human proteome resource

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ProteomicsDBi
60787

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q15842

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

More...
PhosphoSitePlusi
Q15842

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Predominantly detected in fetal and adult heart.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000121361 Expressed in 191 organ(s), highest expression level in myocardium

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q15842 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q15842 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA031066

<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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109966, 33 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q15842

Protein interaction database and analysis system

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IntActi
Q15842, 3 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000240662

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q15842

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

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SMRi
Q15842

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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>Motifi140 – 145Selectivity 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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3827 Eukaryota
ENOG410XQ62 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153435

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000237325

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG006178

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q15842

KEGG Orthology (KO)

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KOi
K05001

Identification of Orthologs from Complete Genome Data

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OMAi
AMELQCS

Database of Orthologous Groups

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OrthoDBi
664798at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q15842

TreeFam database of animal gene trees

More...
TreeFami
TF313676

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.1400, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR014756 Ig_E-set
IPR016449 K_chnl_inward-rec_Kir
IPR003278 K_chnl_inward-rec_Kir6.1
IPR013518 K_chnl_inward-rec_Kir_cyto
IPR040445 Kir_TM

The PANTHER Classification System

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PANTHERi
PTHR11767 PTHR11767, 1 hit
PTHR11767:SF11 PTHR11767:SF11, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF01007 IRK, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF005465 GIRK_kir, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR01331 KIR61CHANNEL
PR01320 KIRCHANNEL

Superfamily database of structural and functional annotation

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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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q15842-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLARKSIIPE EYVLARIAAE NLRKPRIRDR LPKARFIAKS GACNLAHKNI
60 70 80 90 100
REQGRFLQDI FTTLVDLKWR HTLVIFTMSF LCSWLLFAIM WWLVAFAHGD
110 120 130 140 150
IYAYMEKSGM EKSGLESTVC VTNVRSFTSA FLFSIEVQVT IGFGGRMMTE
160 170 180 190 200
ECPLAITVLI LQNIVGLIIN AVMLGCIFMK TAQAHRRAET LIFSRHAVIA
210 220 230 240 250
VRNGKLCFMF RVGDLRKSMI ISASVRIQVV KKTTTPEGEV VPIHQLDIPV
260 270 280 290 300
DNPIESNNIF LVAPLIICHV IDKRSPLYDI SATDLANQDL EVIVILEGVV
310 320 330 340 350
ETTGITTQAR TSYIAEEIQW GHRFVSIVTE EEGVYSVDYS KFGNTVKVAA
360 370 380 390 400
PRCSARELDE KPSILIQTLQ KSELSHQNSL RKRNSMRRNN SMRRNNSIRR
410 420
NNSSLMVPKV QFMTPEGNQN TSES
Length:424
Mass (Da):47,968
Last modified:November 1, 1996 - v1
<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:i973EAA5900C6447C
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5GY12F5GY12_HUMAN
ATP-sensitive inward rectifier pota...
KCNJ8
114Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07951865V → M in HTOCD; unknown pathological significance; displays gain of function; increased open state stability, reduced sensitivity to ATP inhibition and increased channel activity; almost completely abolishes high affinity sensitivity to glibenclamide, an inhibitor of ATP-sensitive potassium channels. 2 PublicationsCorresponds to variant dbSNP:rs606231263EnsemblClinVar.1
Natural variantiVAR_075226176C → S in HTOCD; unknown pathological significance; displays gain of function; displays reduced ATP sensitivity. 1 PublicationCorresponds to variant dbSNP:rs606231264EnsemblClinVar.1
Natural variantiVAR_065878332Missing in SIDS; the mutant channel displays reduced potassium currents compared to wild type. 1 Publication1
Natural variantiVAR_049670334V → A. Corresponds to variant dbSNP:rs34811413EnsemblClinVar.1
Natural variantiVAR_065879346V → I in SIDS; the mutant channel displays reduced potassium currents compared to wild type. 1 PublicationCorresponds to variant dbSNP:rs147316959EnsemblClinVar.1
Natural variantiVAR_065225422S → L Found in Brugada syndrome and other J-wave syndromes; unknown pathological significance; the mutant channel displays an increase in glibenclamide-sensitive potassium currents compared to wild type. 1 PublicationCorresponds to variant dbSNP:rs72554071EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
D50312 mRNA Translation: BAA08851.1
D50315 Genomic DNA Translation: BAA08852.1
BC000544 mRNA Translation: AAH00544.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS8692.1

NCBI Reference Sequences

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RefSeqi
NP_004973.1, NM_004982.3
XP_005253415.1, XM_005253358.4
XP_016874772.1, XM_017019283.1
XP_016874773.1, XM_017019284.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.102308
Hs.619408
Hs.741642

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000240662; ENSP00000240662; ENSG00000121361

Database of genes from NCBI RefSeq genomes

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GeneIDi
3764

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3764

UCSC genome browser

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UCSCi
uc001rff.4 human

Keywords - Coding sequence diversityi

Polymorphism

<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
D50312 mRNA Translation: BAA08851.1
D50315 Genomic DNA Translation: BAA08852.1
BC000544 mRNA Translation: AAH00544.1
CCDSiCCDS8692.1
RefSeqiNP_004973.1, NM_004982.3
XP_005253415.1, XM_005253358.4
XP_016874772.1, XM_017019283.1
XP_016874773.1, XM_017019284.1
UniGeneiHs.102308
Hs.619408
Hs.741642

3D structure databases

ProteinModelPortaliQ15842
SMRiQ15842
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109966, 33 interactors
ELMiQ15842
IntActiQ15842, 3 interactors
STRINGi9606.ENSP00000240662

Chemistry databases

ChEMBLiCHEMBL4770
DrugBankiDB01251 Gliquidone
DB01289 Glisoxepide
DB01016 Glyburide
DB00922 Levosimendan
DB00914 Phenformin
DB01154 Thiamylal
DB01392 Yohimbine

Protein family/group databases

TCDBi1.A.2.1.13 the inward rectifier k(+) channel (irk-c) family

PTM databases

iPTMnetiQ15842
PhosphoSitePlusiQ15842

Polymorphism and mutation databases

BioMutaiKCNJ8
DMDMi2493600

Proteomic databases

jPOSTiQ15842
PaxDbiQ15842
PeptideAtlasiQ15842
PRIDEiQ15842
ProteomicsDBi60787

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
3764
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000240662; ENSP00000240662; ENSG00000121361
GeneIDi3764
KEGGihsa:3764
UCSCiuc001rff.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
3764
DisGeNETi3764
EuPathDBiHostDB:ENSG00000121361.3

GeneCards: human genes, protein and diseases

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GeneCardsi
KCNJ8
GeneReviewsiKCNJ8
HGNCiHGNC:6269 KCNJ8
HPAiHPA031066
MalaCardsiKCNJ8
MIMi239850 phenotype
272120 phenotype
600935 gene
neXtProtiNX_Q15842
OpenTargetsiENSG00000121361
Orphaneti130 Brugada syndrome
1517 Hypertrichotic osteochondrodysplasia, Cantu type
PharmGKBiPA30050

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3827 Eukaryota
ENOG410XQ62 LUCA
GeneTreeiENSGT00940000153435
HOGENOMiHOG000237325
HOVERGENiHBG006178
InParanoidiQ15842
KOiK05001
OMAiAMELQCS
OrthoDBi664798at2759
PhylomeDBiQ15842
TreeFamiTF313676

Enzyme and pathway databases

ReactomeiR-HSA-1296025 ATP sensitive Potassium channels

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
KCNJ8

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

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GenomeRNAii
3764

Protein Ontology

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PROi
PR:Q15842

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000121361 Expressed in 191 organ(s), highest expression level in myocardium
ExpressionAtlasiQ15842 baseline and differential
GenevisibleiQ15842 HS

Family and domain databases

Gene3Di2.60.40.1400, 1 hit
InterProiView protein in InterPro
IPR014756 Ig_E-set
IPR016449 K_chnl_inward-rec_Kir
IPR003278 K_chnl_inward-rec_Kir6.1
IPR013518 K_chnl_inward-rec_Kir_cyto
IPR040445 Kir_TM
PANTHERiPTHR11767 PTHR11767, 1 hit
PTHR11767:SF11 PTHR11767:SF11, 1 hit
PfamiView protein in Pfam
PF01007 IRK, 1 hit
PIRSFiPIRSF005465 GIRK_kir, 1 hit
PRINTSiPR01331 KIR61CHANNEL
PR01320 KIRCHANNEL
SUPFAMiSSF81296 SSF81296, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<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 nameiKCNJ8_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: Q15842
Secondary accession number(s): O00657
<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_and_isoforms">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: November 1, 1996
Last modified: February 13, 2019
This is version 179 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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