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

Summary

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: mouse all
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Genomic context

Location:: 1q42.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (233614106..233672514)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (233000572..233058976)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (233749852..233808260)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Dynamics of the TWIK-1 Channel
Title: Exploring the Dynamics of the TWIK-1 Channel.
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.
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.
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.
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.
ion selectivity of TWIK-1 K+ channels during pathological hypokalemia; a molecular basis for inward leak Na+ currents that could trigger or contribute to cardiac paradoxical depolarization in lowered [K+]o; mechanism for regulating cardiac excitability.
Title: TWIK-1 two-pore domain potassium channels change ion selectivity and conduct inward leak sodium currents in hypokalemia.
TWIK1 is internalized via a dynamin-dependent mechanism and addressed to the recycling endosomal compartment. Mutation in its cytoplasmic C terminus (I293A,I294A) stabilizes TWIK1 at the plasma membrane, resulting in robust currents.
Title: Potassium channel silencing by constitutive endocytosis and intracellular sequestration.
Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
Title: Integrative predictive model of coronary artery calcification in atherosclerosis.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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 EBI GWAS CatalogPubMed
Genome-wide meta-analysis for severe diabetic retinopathy. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-20654 (e-PCR)
- UniSTS:78416

SHGC-76563 (e-PCR)
- UniSTS:81758

A006F14 (e-PCR)
- UniSTS:55164

G29241 (e-PCR)
- UniSTS:35968

SHGC-83816 (e-PCR)
- UniSTS:101797

KCNK1_344 (e-PCR)
- UniSTS:277427

STS-T89472 (e-PCR)
- UniSTS:19403

RH64590 (e-PCR)
- UniSTS:30195

SHGC-84204 (e-PCR)
- UniSTS:104695

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 outward rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor 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 sodium channel activity	IDA Inferred from Direct Assay more info	PubMed
NOT enables voltage-gated potassium channel activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
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 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
involved_in stabilization of membrane potential	IBA Inferred from Biological aspect of Ancestor more info

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)

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

233614106..233672514

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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