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KCNK1 potassium two pore domain channel subfamily K member 1 [ Homo sapiens (human) ]

Gene ID: 3775, updated on 18-Nov-2024

Summary

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Official Symbol
KCNK1provided by HGNC
Official Full Name
potassium two pore domain channel subfamily K member 1provided by HGNC
Primary source
HGNC:HGNC:6272
See related
Ensembl:ENSG00000135750 MIM:601745; AllianceGenome:HGNC:6272
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
DPK; HOHO; K2P1; KCNO1; TWIK1; K2p1.1; TWIK-1
Summary
This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]
Expression
Broad expression in brain (RPKM 19.7), stomach (RPKM 14.9) and 18 other tissues See more
Orthologs
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Genomic context

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See KCNK1 in Genome Data Viewer
Location:
1q42.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (233614106..233672514)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (233000572..233058976)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (233749852..233808260)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr1:233463573-233463724 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1962 Neighboring gene mitogen-activated protein kinase kinase kinase 21 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:233507364-233507864 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:233606496-233607383 Neighboring gene RNA, U4 small nuclear 77, pseudogene Neighboring gene Sharpr-MPRA regulatory region 5532 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:233710261-233710483 Neighboring gene NANOG hESC enhancer GRCh37_chr1:233723731-233724591 Neighboring gene NANOG hESC enhancer GRCh37_chr1:233737273-233737774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2742 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:233748978-233749630 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2744 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:233771758-233772307 Neighboring gene microRNA 4427 Neighboring gene NANOG hESC enhancer GRCh37_chr1:233813209-233813831 Neighboring gene NANOG hESC enhancer GRCh37_chr1:233814980-233815481 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:233824287-233825116 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:233825117-233825946 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:233825947-233826776 Neighboring gene uncharacterized LOC107985362 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:233843943-233845142 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:233859728-233860927 Neighboring gene uncharacterized LOC124904552 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:233865794-233866564 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:233866565-233867336

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
  • 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. Evidence for an Association Between a pH-Dependent Potassium Channel, TWIK-1, and the Accuracy of Smooth Pursuit Eye Movements. Bargary G, et al. Invest Ophthalmol Vis Sci, 2024 Jul 1. PMID 39012638, Free PMC Article
  2. Overexpressed KCNK1 regulates potassium channels affecting molecular mechanisms and biological pathways in bladder cancer. Zhang W, et al. Eur J Med Res, 2024 Apr 30. PMID 38689322, Free PMC Article
  3. Identification of KCNK1 as a potential prognostic biomarker and therapeutic target of breast cancer. Sun X, et al. Pathol Res Pract, 2023 Jan. PMID 36566598
  4. TWIK-1, a ubiquitous human weakly inward rectifying K+ channel with a novel structure. Lesage F, et al. EMBO J, 1996 Mar 1. PMID 8605869, Free PMC Article
  5. Assignment of the human weak inward rectifier K+ channel TWIK-1 gene to chromosome 1q42-q43. Lesage F, et al. Genomics, 1996 May 15. PMID 8661042

See all (43) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Evidence for an Association Between a pH-Dependent Potassium Channel, TWIK-1, and the Accuracy of Smooth Pursuit Eye Movements.
    Title: Evidence for an Association Between a pH-Dependent Potassium Channel, TWIK-1, and the Accuracy of Smooth Pursuit Eye Movements.
  2. KCNK1 promotes proliferation and metastasis of breast cancer cells by activating lactate dehydrogenase A (LDHA) and up-regulating H3K18 lactylation.
    Title: KCNK1 promotes proliferation and metastasis of breast cancer cells by activating lactate dehydrogenase A (LDHA) and up-regulating H3K18 lactylation.
  3. Overexpressed KCNK1 regulates potassium channels affecting molecular mechanisms and biological pathways in bladder cancer.
    Title: Overexpressed KCNK1 regulates potassium channels affecting molecular mechanisms and biological pathways in bladder cancer.
  4. Identification of KCNK1 as a potential prognostic biomarker and therapeutic target of breast cancer.
    Title: Identification of KCNK1 as a potential prognostic biomarker and therapeutic target of breast cancer.
  5. Selectivity filter instability dominates the low intrinsic activity of the TWIK-1 K2P K(+) channel.
    Title: Selectivity filter instability dominates the low intrinsic activity of the TWIK-1 K2P K(+) channel.
  6. Dynamics of the TWIK-1 Channel
    Title: Exploring the Dynamics of the TWIK-1 Channel.
  7. Our data indicate that TWIK-1 has a highly conserved role in cardiac function and is required for normal heart rate and atrial morphology. Despite the functional importance of TWIK-1 in the atrium, genetic variation in KCNK1 is not a common primary cause of human AF.
    Title: The two-pore domain potassium channel, TWIK-1, has a role in the regulation of heart rate and atrial size.
  8. TWIK-1 protein possesses a hydrophobic barrier deep within the inner pore
    Title: A hydrophobic barrier deep within the inner pore of the TWIK-1 K2P potassium channel.
  9. Potassium channels, in particular K2P channels, are expressed and functional in the apical membrane of airway epithelial cells
    Title: A role for two-pore K⁺ channels in modulating Na⁺ absorption and Cl⁻ secretion in normal human bronchial epithelial cells.
  10. study presents the 3.4 angstrom resolution crystal structure of a human K2P channel, K2P1; an extracellular cap domain located above the selectivity filter forms an ion pathway in which K(+) ions flow through side portals
    Title: Crystal structure of the human two-pore domain potassium channel K2P1.
Submit: New GeneRIF Correction See all GeneRIFs (15)

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

EBI GWAS Catalog

Description
Genome-wide association study of periodontal pathogen colonization.
EBI GWAS Catalog
Genome-wide meta-analysis for severe diabetic retinopathy.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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 identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables inward rectifier potassium channel activity TAS
Traceable Author Statement
more info
 PubMed 
enables ligand-gated channel activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables potassium channel activity IDA
Inferred from Direct Assay
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 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein heterodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein heterodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables sodium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables voltage-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
  
NOT enables voltage-gated potassium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular response to acidic pH IEA
Inferred from Electronic Annotation
more info
  
involved_in chloride transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in glutamate secretion ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in potassium ion transport TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of resting membrane potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to nicotine IEA
Inferred from Electronic Annotation
more info
  
involved_in sodium ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in brush border membrane IEA
Inferred from Electronic Annotation
more info
  
located_in dendrite IEA
Inferred from Electronic Annotation
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
part_of inward rectifier potassium channel complex IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of potassium channel complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in recycling endosome IEA
Inferred from Electronic Annotation
more info
  
located_in synaptic membrane IEA
Inferred from Electronic Annotation
more info
  
part_of voltage-gated potassium channel complex TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
potassium channel subfamily K member 1
Names
inward rectifying potassium channel protein TWIK-1
potassium channel K2P1
potassium channel KCNO1
potassium channel, two pore domain subfamily K, member 1
potassium inwardly-rectifying channel, subfamily K, member 1
tandem of P domains in a weak inward rectifying K+ channel 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.

mRNA and Protein(s)

  1. NM_002245.4 → NP_002236.1  potassium channel subfamily K member 1

    See identical proteins and their annotated locations for NP_002236.1

    Status: REVIEWED

    Source sequence(s)
    AL356357, BC018051, BQ022191, U90065
    Consensus CDS
    CCDS1599.1
    UniProtKB/Swiss-Prot
    O00180, Q13307, Q5T5E8
    UniProtKB/TrEMBL
    B2RA30
    Related
    ENSP00000355580.3, ENST00000366621.8
    Conserved Domains (1) summary
    pfam07885
    Location:101 → 157
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    233614106..233672514
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544184.3 → XP_011542486.1  potassium channel subfamily K member 1 isoform X1

    Related
    ENST00000366620.5
    Conserved Domains (1) summary
    pfam07885
    Location:123 → 199
    Ion_trans_2; Ion channel

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    233000572..233058976
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336481.1 → XP_054192456.1  potassium channel subfamily K member 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O00180.1 GenPept UniProtKB/Swiss-Prot:O00180

Gene LinkOut

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

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