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UniProtKB - O14649 (KCNK3_HUMAN)

Entry version 174 (26 Feb 2020)
Sequence version 1 (01 Jan 1998)
Previous versions | rss
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Protein

Potassium channel subfamily K member 3

Gene

KCNK3

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

pH-dependent, voltage-insensitive, background potassium channel protein. Rectification direction results from potassium ion concentration on either side of the membrane. Acts as an outward rectifier when external potassium concentration is low. When external potassium concentration is high, current is inward.2 Publications

Miscellaneous

Inhibited by external acidification. Activated by halothane and isoflurane.

<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, Potassium channel
Biological processIon transport, Potassium transport, Transport
LigandPotassium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1299316 TWIK-releated acid-sensitive K+ channel (TASK)
R-HSA-5576886 Phase 4 - resting membrane potential

SIGNOR Signaling Network Open Resource

More...SIGNORi		O14649

Protein family/group databases

Transport Classification Database

More...TCDBi		1.A.1.9.2 the voltage-gated ion channel (vic) superfamily

<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:
Potassium channel subfamily K member 3
Alternative name(s):
Acid-sensitive potassium channel protein TASK-1
TWIK-related acid-sensitive K(+) channel 1
Two pore potassium channel KT3.1
Short name:
Two pore K(+) channel KT3.1
<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:KCNK3
Synonyms:TASK, TASK1
<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 2

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:6278 KCNK3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603220 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O14649

<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 & Seán O’Donoghue; Source: COMPARTMENTS

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 – 8CytoplasmicSequence analysis8
<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>Transmembranei9 – 29HelicalSequence analysisAdd BLAST21
<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>Intramembranei78 – 101Pore-forming; Name=Pore-forming 1Sequence analysisAdd BLAST24
Transmembranei108 – 128HelicalSequence analysisAdd BLAST21
Topological domaini129 – 158CytoplasmicSequence analysisAdd BLAST30
Transmembranei159 – 179HelicalSequence analysisAdd BLAST21
Intramembranei184 – 207Pore-forming; Name=Pore-forming 2Sequence analysisAdd BLAST24
Transmembranei223 – 243HelicalSequence analysisAdd BLAST21
Topological domaini244 – 394CytoplasmicSequence analysisAdd BLAST151

Keywords - Cellular componenti

Cell membrane, 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

Pulmonary hypertension, primary, 4 (PPH4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs.
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_0701268T → K in PPH4; loss of function; channel activity can be rescued with the use of the phospholipase A2 inhibitor ONO-RS-082. 1 PublicationCorresponds to variant dbSNP:rs1085307438EnsemblClinVar.1
Natural variantiVAR_07012797G → R in PPH4; loss of function. 1 PublicationCorresponds to variant dbSNP:rs398123040EnsemblClinVar.1
Natural variantiVAR_070128182E → K in PPH4; loss of function; channel activity can be rescued with the use of the phospholipase A2 inhibitor ONO-RS-082. 1 PublicationCorresponds to variant dbSNP:rs398123042EnsemblClinVar.1
Natural variantiVAR_070129192Y → C in PPH4; loss of function. 1 PublicationCorresponds to variant dbSNP:rs398123043EnsemblClinVar.1
Natural variantiVAR_070130203G → D in PPH4; loss of function; channel activity cannot be rescued with the use of the phospholipase A2 inhibitor ONO-RS-082. 1 PublicationCorresponds to variant dbSNP:rs398123039EnsemblClinVar.1
Natural variantiVAR_070131221V → L in PPH4; loss of function. 1 PublicationCorresponds to variant dbSNP:rs398123041EnsemblClinVar.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>Mutagenesisi98H → N: Greatly reduces pH sensitivity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		3777

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

More...GeneReviewsi		KCNK3

MalaCards human disease database

More...MalaCardsi		KCNK3
MIMi615344 phenotype

Open Targets

More...OpenTargetsi		ENSG00000171303

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

More...Orphaneti		275777 Heritable pulmonary arterial hypertension

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30060

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O14649 Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2321613

Drug and drug target database

More...DrugBanki		DB00561 Doxapram
DB01159 Halothane

DrugCentral

More...DrugCentrali		O14649

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		515

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KCNK3

<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_00001017441 – 394Potassium channel subfamily K member 3Add BLAST394

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi53N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O14649

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

More...PaxDbi		O14649

PeptideAtlas

More...PeptideAtlasi		O14649

PRoteomics IDEntifications database

More...PRIDEi		O14649

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		48147

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O14649

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

More...PhosphoSitePlusi		O14649

<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

Widespread expression in adult. Strongest expression in pancreas and placenta. Lower expression in brain, lung, prostate, heart, kidney, uterus, small intestine and colon.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000171303 Expressed in adrenal gland and 162 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O14649 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O14649 HS

<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

Homodimer (Probable). Heterodimer with KCNK1.

Curated1 Publication

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		109978, 4 interactors

Protein interaction database and analysis system

More...IntActi		O14649, 2 interactors

Molecular INTeraction database

More...MINTi		O14649

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000306275

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		O14649

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O14649 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

Secondary structure

1394
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		O14649

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

<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 two pore domain potassium channel (TC 1.A.1.8) family. [View classification]Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4404 Eukaryota
ENOG410XRZJ LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158248

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_022504_4_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O14649

KEGG Orthology (KO)

More...KOi		K04914

Identification of Orthologs from Complete Genome Data

More...OMAi		IGFISCM

Database of Orthologous Groups

More...OrthoDBi		1109218at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O14649

TreeFam database of animal gene trees

More...TreeFami		TF313947

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003280 2pore_dom_K_chnl
IPR003092 2pore_dom_K_chnl_TASK
IPR013099 K_chnl_dom
IPR005406 KCNK3

The PANTHER Classification System

More...PANTHERi		PTHR11003:SF138 PTHR11003:SF138, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF07885 Ion_trans_2, 2 hits

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF038061 K_channel_subfamily_K_type, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01333 2POREKCHANEL
PR01584 TASK1CHANNEL
PR01095 TASKCHANNEL

<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>Sequence (1+)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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

O14649-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MKRQNVRTLA LIVCTFTYLL VGAAVFDALE SEPELIERQR LELRQQELRA 
        60         70         80         90        100
RYNLSQGGYE ELERVVLRLK PHKAGVQWRF AGSFYFAITV ITTIGYGHAA 
       110        120        130        140        150
PSTDGGKVFC MFYALLGIPL TLVMFQSLGE RINTLVRYLL HRAKKGLGMR 
       160        170        180        190        200
RADVSMANMV LIGFFSCIST LCIGAAAFSH YEHWTFFQAY YYCFITLTTI 
       210        220        230        240        250
GFGDYVALQK DQALQTQPQY VAFSFVYILT GLTVIGAFLN LVVLRFMTMN 
       260        270        280        290        300
AEDEKRDAEH RALLTRNGQA GGGGGGGSAH TTDTASSTAA AGGGGFRNVY 
       310        320        330        340        350
AEVLHFQSMC SCLWYKSREK LQYSIPMIIP RDLSTSDTCV EQSHSSPGGG 
       360        370        380        390 
GRYSDTPSRR CLCSGAPRSA ISSVSTGLHS LSTFRGLMKR RSSV
Length:394
Mass (Da):43,518
Last modified:January 1, 1998 - 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:i9FF4C8266F615FB7
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
B9EIJ4B9EIJ4_HUMAN
KCNK3 protein
KCNK3
271Annotation 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_0701268T → K in PPH4; loss of function; channel activity can be rescued with the use of the phospholipase A2 inhibitor ONO-RS-082. 1 PublicationCorresponds to variant dbSNP:rs1085307438EnsemblClinVar.1
Natural variantiVAR_07012797G → R in PPH4; loss of function. 1 PublicationCorresponds to variant dbSNP:rs398123040EnsemblClinVar.1
Natural variantiVAR_070128182E → K in PPH4; loss of function; channel activity can be rescued with the use of the phospholipase A2 inhibitor ONO-RS-082. 1 PublicationCorresponds to variant dbSNP:rs398123042EnsemblClinVar.1
Natural variantiVAR_070129192Y → C in PPH4; loss of function. 1 PublicationCorresponds to variant dbSNP:rs398123043EnsemblClinVar.1
Natural variantiVAR_070130203G → D in PPH4; loss of function; channel activity cannot be rescued with the use of the phospholipase A2 inhibitor ONO-RS-082. 1 PublicationCorresponds to variant dbSNP:rs398123039EnsemblClinVar.1
Natural variantiVAR_070131221V → L in PPH4; loss of function. 1 PublicationCorresponds to variant dbSNP:rs398123041EnsemblClinVar.1

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
AF006823 mRNA Translation: AAC51777.1
AF065163 mRNA Translation: AAG29340.1
AC015977 Genomic DNA Translation: AAY24312.1
CH471053 Genomic DNA Translation: EAX00678.1
CH471053 Genomic DNA Translation: EAX00679.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1727.1

NCBI Reference Sequences

More...RefSeqi		NP_002237.1, NM_002246.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000302909; ENSP00000306275; ENSG00000171303

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3777

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3777

UCSC genome browser

More...UCSCi		uc002rhn.3 human

<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
AF006823 mRNA Translation: AAC51777.1
AF065163 mRNA Translation: AAG29340.1
AC015977 Genomic DNA Translation: AAY24312.1
CH471053 Genomic DNA Translation: EAX00678.1
CH471053 Genomic DNA Translation: EAX00679.1
CCDSiCCDS1727.1
RefSeqiNP_002237.1, NM_002246.2

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
6RV2X-ray3.00A/B/C/D1-259[»]
6RV3X-ray2.90A/B/C/D1-259[»]
6RV4X-ray3.10A/B/C/D1-259[»]
SMRiO14649
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi109978, 4 interactors
IntActiO14649, 2 interactors
MINTiO14649
STRINGi9606.ENSP00000306275

Chemistry databases

BindingDBiO14649
ChEMBLiCHEMBL2321613
DrugBankiDB00561 Doxapram
DB01159 Halothane
DrugCentraliO14649
GuidetoPHARMACOLOGYi515

Protein family/group databases

TCDBi1.A.1.9.2 the voltage-gated ion channel (vic) superfamily

PTM databases

iPTMnetiO14649
PhosphoSitePlusiO14649

Polymorphism and mutation databases

BioMutaiKCNK3

Proteomic databases

MassIVEiO14649
PaxDbiO14649
PeptideAtlasiO14649
PRIDEiO14649
ProteomicsDBi48147

Genome annotation databases

EnsembliENST00000302909; ENSP00000306275; ENSG00000171303
GeneIDi3777
KEGGihsa:3777
UCSCiuc002rhn.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3777
DisGeNETi3777

GeneCards: human genes, protein and diseases

More...GeneCardsi		KCNK3
GeneReviewsiKCNK3
HGNCiHGNC:6278 KCNK3
MalaCardsiKCNK3
MIMi603220 gene
615344 phenotype
neXtProtiNX_O14649
OpenTargetsiENSG00000171303
Orphaneti275777 Heritable pulmonary arterial hypertension
PharmGKBiPA30060

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4404 Eukaryota
ENOG410XRZJ LUCA
GeneTreeiENSGT00940000158248
HOGENOMiCLU_022504_4_0_1
InParanoidiO14649
KOiK04914
OMAiIGFISCM
OrthoDBi1109218at2759
PhylomeDBiO14649
TreeFamiTF313947

Enzyme and pathway databases

ReactomeiR-HSA-1299316 TWIK-releated acid-sensitive K+ channel (TASK)
R-HSA-5576886 Phase 4 - resting membrane potential
SIGNORiO14649

Miscellaneous databases

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

More...ChiTaRSi		KCNK3 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		KCNK3

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

More...GenomeRNAii		3777
PharosiO14649 Tclin

Protein Ontology

More...PROi		PR:O14649
RNActiO14649 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000171303 Expressed in adrenal gland and 162 other tissues
ExpressionAtlasiO14649 baseline and differential
GenevisibleiO14649 HS

Family and domain databases

InterProiView protein in InterPro
IPR003280 2pore_dom_K_chnl
IPR003092 2pore_dom_K_chnl_TASK
IPR013099 K_chnl_dom
IPR005406 KCNK3
PANTHERiPTHR11003:SF138 PTHR11003:SF138, 1 hit
PfamiView protein in Pfam
PF07885 Ion_trans_2, 2 hits
PIRSFiPIRSF038061 K_channel_subfamily_K_type, 1 hit
PRINTSiPR01333 2POREKCHANEL
PR01584 TASK1CHANNEL
PR01095 TASKCHANNEL

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

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 nameiKCNK3_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: O14649
Secondary accession number(s): Q53SU2
<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: February 21, 2001
Last sequence update: January 1, 1998
Last modified: February 26, 2020
This is version 174 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

3D-structure, Reference proteome

Documents

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