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KCNQ1 potassium voltage-gated channel subfamily Q member 1 [ Homo sapiens (human) ]

Gene ID: 3784, updated on 5-Apr-2020

Summary

Official Symbol
KCNQ1provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily Q member 1provided by HGNC
Primary source
HGNC:HGNC:6294
See related
Ensembl:ENSG00000053918 MIM:607542
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
LQT; RWS; WRS; LQT1; SQT2; ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9; Kv7.1; KVLQT1
Summary
This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
Expression
Broad expression in adrenal (RPKM 44.1), thyroid (RPKM 34.9) and 16 other tissues See more
Orthologs

Genomic context

See KCNQ1 in Genome Data Viewer
Location:
11p15.5-p15.4
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (2445008..2849110)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2466221..2870340)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene tumor suppressing subtransferable candidate 4 Neighboring gene transient receptor potential cation channel subfamily M member 5 Neighboring gene Sharpr-MPRA regulatory region 10946 Neighboring gene KCNQ1 opposite strand/antisense transcript 1 Neighboring gene nonconserved acetylation island sequence 52 enhancer Neighboring gene cytochrome c oxidase subunit 6C pseudogene 18 Neighboring gene KCNQ1 antisense RNA 1 Neighboring gene CRISPRi-validated cis-regulatory element chr11.592 Neighboring gene KCNQ1 downstream neighbor

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in KCNQ1 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-03-22)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-03-22)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
NHGRI GWA Catalog
A genome-wide association study confirms previously reported loci for type 2 diabetes in Han Chinese.
NHGRI GWA Catalog
A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.
NHGRI GWA Catalog
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
NHGRI GWA Catalog
A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese.
NHGRI GWA Catalog
A genome-wide association study in American Indians implicates DNER as a susceptibility locus for type 2 diabetes.
NHGRI GWA Catalog
Common variants at ten loci influence QT interval duration in the QTGEN Study.
NHGRI GWA Catalog
Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
NHGRI GWA Catalog
Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.
NHGRI GWA Catalog
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
NHGRI GWA Catalog
Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
NHGRI GWA Catalog
Genome-wide association study identifies three novel loci for type 2 diabetes.
NHGRI GWA Catalog
Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.
NHGRI GWA Catalog
Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas.
NHGRI GWA Catalog
Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.
NHGRI GWA Catalog
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Impact of ancestry and common genetic variants on QT interval in African Americans.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.
NHGRI GWA Catalog
Several common variants modulate heart rate, PR interval and QRS duration.
NHGRI GWA Catalog
SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations.
NHGRI GWA Catalog
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
NHGRI GWA Catalog
Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ26167

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calmodulin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calmodulin binding IDA
Inferred from Direct Assay
more info
PubMed 
delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
outward rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
outward rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-4,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase A catalytic subunit binding IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase A regulatory subunit binding IDA
Inferred from Direct Assay
more info
PubMed 
protein phosphatase 1 binding IDA
Inferred from Direct Assay
more info
PubMed 
scaffold protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to voltage-gated potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
atrial cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac conduction TAS
Traceable Author Statement
more info
 
cardiac muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiovascular system development IEA
Inferred from Electronic Annotation
more info
 
cellular response to cAMP IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to cAMP IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to drug IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to epinephrine stimulus TAS
Traceable Author Statement
more info
PubMed 
gene silencing IEA
Inferred from Electronic Annotation
more info
 
inner ear development ISS
Inferred from Sequence or Structural Similarity
more info
 
intestinal absorption ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane repolarization during action potential IDA
Inferred from Direct Assay
more info
PubMed 
membrane repolarization during atrial cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane repolarization during cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane repolarization during cardiac muscle cell action potential TAS
Traceable Author Statement
more info
PubMed 
membrane repolarization during ventricular cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cardiac muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of heart rate IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
potassium ion export across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion export across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
regulation of atrial cardiac muscle cell membrane repolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of gastric acid secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of gene expression by genetic imprinting IEA
Inferred from Electronic Annotation
more info
 
regulation of heart contraction IC
Inferred by Curator
more info
PubMed 
regulation of heart rate by cardiac conduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of membrane repolarization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of membrane repolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of ventricular cardiac muscle cell membrane repolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
renal absorption ISS
Inferred from Sequence or Structural Similarity
more info
 
sensory perception of sound TAS
Traceable Author Statement
more info
PubMed 
ventricular cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with early endosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with endoplasmic reticulum IPI
Inferred from Physical Interaction
more info
PubMed 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion channel complex IPI
Inferred from Physical Interaction
more info
PubMed 
late endosome IDA
Inferred from Direct Assay
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel complex IC
Inferred by Curator
more info
PubMed 
voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
potassium voltage-gated channel subfamily KQT member 1
Names
IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1
kidney and cardiac voltage dependend K+ channel
potassium channel, voltage gated KQT-like subfamily Q, member 1
potassium voltage-gated channel, KQT-like subfamily, member 1
slow delayed rectifier channel subunit
voltage-gated potassium channel subunit Kv7.1

NCBI Reference Sequences (RefSeq)

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_008935.1 RefSeqGene

    Range
    5001..409120
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_287

mRNA and Protein(s)

  1. NM_000218.3NP_000209.2  potassium voltage-gated channel subfamily KQT member 1 isoform 1

    See identical proteins and their annotated locations for NP_000209.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AF000571, AI439544, AI473902, BC017074
    Consensus CDS
    CCDS7736.1
    UniProtKB/Swiss-Prot
    P51787
    UniProtKB/TrEMBL
    Q96AI9
    Related
    ENSP00000155840.2, ENST00000155840.12
    Conserved Domains (3) summary
    pfam00520
    Location:153359
    Ion_trans; Ion transport protein
    pfam03520
    Location:511617
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:270349
    Ion_trans_2; Ion channel
  2. NM_181798.1NP_861463.1  potassium voltage-gated channel subfamily KQT member 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_861463.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' terminal exon and initiates translation from an alternate start site compared to variant 1. The resulting shorter isoform (2) has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AF000571, AF051426, AI473902
    UniProtKB/Swiss-Prot
    P51787
    Related
    ENSP00000334497.5, ENST00000335475.6
    Conserved Domains (2) summary
    pfam00520
    Location:2232
    Ion_trans; Ion transport protein
    pfam03520
    Location:384490
    KCNQ_channel; KCNQ voltage-gated potassium channel

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    2445008..2849110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187585.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    1031..81275
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_181797.1: Suppressed sequence

    Description
    NM_181797.1: This RefSeq was permanently suppressed because it contains the wrong N-terminal CDS sequence and has an inferred exon combination.
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