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    KCNK3 potassium two pore domain channel subfamily K member 3 [ Homo sapiens (human) ]

    Gene ID: 3777, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KCNK3provided by HGNC
    Official Full Name
    potassium two pore domain channel subfamily K member 3provided by HGNC
    Primary source
    HGNC:HGNC:6278
    See related
    Ensembl:ENSG00000171303 MIM:603220; AllianceGenome:HGNC:6278
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OAT1; PPH4; TASK; TASK1; TBAK1; K2p3.1; TASK-1
    Summary
    This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular acidification. Also referred to as an acid-sensitive potassium channel, it is activated by the anesthetics halothane and isoflurane. Although three transcripts are detected in northern blots, there is currently no sequence available to confirm transcript variants for this gene. [provided by RefSeq, Aug 2008]
    Expression
    Biased expression in adrenal (RPKM 48.3), placenta (RPKM 12.8) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KCNK3 in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (26692722..26733420)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (26731837..26774979)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (26915590..26956288)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26813715-26814459 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26814460-26815203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26821036-26821536 Neighboring gene calcium and integrin binding family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26856058-26856598 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:26878417-26879132 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:26888285-26888441 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26892685-26893186 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:26894826-26895015 Neighboring gene Sharpr-MPRA regulatory region 9124 Neighboring gene ribosomal protein L37 pseudogene 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26919925-26920426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:26929035-26929932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26932169-26933090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26933091-26934010 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:26946480-26947679 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:26960802-26961302 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:26961303-26961803 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26965319-26965824 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:26972913-26973660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:26975905-26976652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:26976653-26977400 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:26977401-26978148 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:26981141-26981888 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:26981889-26982634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15476 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11276 Neighboring gene solute carrier family 35 member F6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27007325-27008094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15479 Neighboring gene centromere protein A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of the A293 (AVE1231) Binding Site in the Cardiac Two-Pore-Domain Potassium Channel TASK-1: a Common Low Affinity Antiarrhythmic Drug Binding Site. Wiedmann F, et al. Cell Physiol Biochem, 2019. PMID 31001961
    2. Reorientation of the first signal-anchor sequence during potassium channel biogenesis at the Sec61 complex. Watson HR, et al. Biochem J, 2013 Dec 1. PMID 24015703, Free PMC Article
    3. A novel channelopathy in pulmonary arterial hypertension. Ma L, et al. N Engl J Med, 2013 Jul 25. PMID 23883380, Free PMC Article
    4. Localization of TASK and TREK, two-pore domain K+ channels, in human cytotrophoblast cells. Bai X, et al. J Soc Gynecol Investig, 2005 Feb. PMID 15695101
    5. An homozygous mutation in KCNK3 is associated with an aggressive form of hereditary pulmonary arterial hypertension. Navas Tejedor P, et al. Clin Genet, 2017 Mar. PMID 27649371

    See all (96) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Potassium channel TASK-5 forms functional heterodimers with TASK-1 and TASK-3 to break its silence.
      Title: Potassium channel TASK-5 forms functional heterodimers with TASK-1 and TASK-3 to break its silence.
    2. Genome-Wide Methylation Analysis Reveals a KCNK3-Prominent Causal Cascade on Hypertension.
      Title: Genome-Wide Methylation Analysis Reveals a KCNK3-Prominent Causal Cascade on Hypertension.
    3. Activation of neurokinin-III receptors modulates human atrial TASK-1 currents.
      Title: Activation of neurokinin-III receptors modulates human atrial TASK-1 currents.
    4. Crosstalk between BMP signaling and KCNK3 in phenotypic switching of pulmonary vascular smooth muscle cells.
      Title: Crosstalk between BMP signaling and KCNK3 in phenotypic switching of pulmonary vascular smooth muscle cells.
    5. Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.
      Title: Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.
    6. MicroRNAs Regulate TASK-1 and Are Linked to Myocardial Dilatation in Atrial Fibrillation.
      Title: MicroRNAs Regulate TASK-1 and Are Linked to Myocardial Dilatation in Atrial Fibrillation.
    7. Expression of Proton-Sensitive GPR31, GPR151, TASK1 and TASK3 in Common Skin Tumors.
      Title: Expression of Proton-Sensitive GPR31, GPR151, TASK1 and TASK3 in Common Skin Tumors.
    8. TASK-1 regulates mitochondrial function under hypoxia.
      Title: TASK-1 regulates mitochondrial function under hypoxia.
    9. Human adrenal glomerulosa cells express K2P and GIRK potassium channels that are inhibited by ANG II and ACTH.
      Title: Human adrenal glomerulosa cells express K2P and GIRK potassium channels that are inhibited by ANG II and ACTH.
    10. KCNK3 Mutation Causes Altered Immune Function in Pulmonary Arterial Hypertension Patients and Mouse Models.
      Title: KCNK3 Mutation Causes Altered Immune Function in Pulmonary Arterial Hypertension Patients and Mouse Models.
    Submit: New GeneRIF Correction See all GeneRIFs (73)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpu vpu HIV-1 Vpu and TASK-1 decrease HIV-1 transcription by suppressing unintegrated HIV-1 DNA, which is inhibited by overexpression of RelA PubMed
    vpu HIV-1 Vpu interacts with TASK-1, a mammalian background K(+) channel, which in turn suppresses TASK-1 current in HEK-293 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables S100 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables monoatomic ion channel activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables open rectifier potassium channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables outward rectifier potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables outward rectifier potassium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables potassium channel activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables potassium ion leak channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables potassium ion leak channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to zinc ion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cochlea development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in monoatomic ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in potassium ion transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of resting membrane potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    potassium channel subfamily K member 3
    Names
    TWIK-related acid-sensitive K(+) channel 1
    TWIK-related acid-sensitive K+ 1
    TWIK-related acid-sensitive K+ channel
    acid-sensitive potassium channel protein TASK
    acid-sensitive potassium channel protein TASK-1
    cardiac potassium channel
    potassium channel, two pore domain subfamily K, member 3
    potassium inwardly-rectifying channel, subfamily K, member 3
    two P domain potassium channel
    two pore K(+) channel KT3.1
    two pore potassium channel KT3.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033884.1 RefSeqGene

      Range
      5001..43486
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002246.3 → NP_002237.1  potassium channel subfamily K member 3

      See identical proteins and their annotated locations for NP_002237.1

      Status: REVIEWED

      Source sequence(s)
      AC015977, AF065163
      Consensus CDS
      CCDS1727.1
      UniProtKB/Swiss-Prot
      O14649, Q53SU2
      Related
      ENSP00000306275.3, ENST00000302909.4
      Conserved Domains (1) summary
      pfam07885
      Location:77 → 132
      Ion_trans_2; Ion channel

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      26692722..26733420
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005264293.3 → XP_005264350.1  potassium channel subfamily K member 3 isoform X1

      See identical proteins and their annotated locations for XP_005264350.1

      UniProtKB/TrEMBL
      B9EIJ4
      Conserved Domains (2) summary
      pfam07885
      Location:57 → 137
      Ion_trans_2; Ion channel
      cl01544
      Location:3 → 60
      Bestrophin; Bestrophin, RFP-TM, chloride channel

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      26731837..26774979
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341941.1 → XP_054197916.1  potassium channel subfamily K member 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14649.1 GenPept UniProtKB/Swiss-Prot:O14649

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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