Display Settings:

Format

Send to:

Choose Destination

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

Gene ID: 3784, updated on 25-Jan-2015
Official Symbol
KCNQ1provided by HGNC
Official Full Name
potassium channel, voltage gated KQT-like subfamily Q, member 1provided by HGNC
Primary source
HGNC:HGNC:6294
See related
Ensembl:ENSG00000053918; HPRD:06341; MIM:607542; Vega:OTTHUMG00000009900
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]
Orthologs
See KCNQ1 in MapViewer
Location:
11p15.5
Exon count:
17
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (2444991..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 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding) Neighboring gene KCNQ1 downstream neighbor (non-protein coding) Neighboring gene cyclin-dependent kinase inhibitor 1C (p57, Kip2)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
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 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 East Asian-ancestry populations identifies four new loci for body mass index.
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
  • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Cholinergic synapse, organism-specific biosystem (from KEGG)
    Cholinergic synapse, organism-specific biosystemAcetylcholine (ACh) is a neurotransmitter widely distributed in the central (and also peripheral, autonomic and enteric) nervous system (CNS). In the CNS, ACh facilitates many functions, such as lear...
  • Gastric acid secretion, organism-specific biosystem (from KEGG)
    Gastric acid secretion, organism-specific biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
  • Gastric acid secretion, conserved biosystem (from KEGG)
    Gastric acid secretion, conserved biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Pancreatic secretion, organism-specific biosystem (from KEGG)
    Pancreatic secretion, organism-specific biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
  • Pancreatic secretion, conserved biosystem (from KEGG)
    Pancreatic secretion, conserved biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
  • Potassium Channels, organism-specific biosystem (from REACTOME)
    Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
  • Protein digestion and absorption, organism-specific biosystem (from KEGG)
    Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
  • Protein digestion and absorption, conserved biosystem (from KEGG)
    Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
  • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
  • TNF-alpha/NF-kB Signaling Pathway, organism-specific biosystem (from WikiPathways)
    TNF-alpha/NF-kB Signaling Pathway, organism-specific biosystem"The Tumor Necrosis Factor alpha is a proinflammatory cytokine belonging to the TNF superfamily. It signals through 2 separate receptors - TNFRSF1A and TNFRSF1B, both members of the TNF receptor supe...
  • Vibrio cholerae infection, organism-specific biosystem (from KEGG)
    Vibrio cholerae infection, organism-specific biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...
  • Vibrio cholerae infection, conserved biosystem (from KEGG)
    Vibrio cholerae infection, conserved biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...
  • Voltage gated Potassium channels, organism-specific biosystem (from REACTOME)
    Voltage gated Potassium channels, organism-specific biosystemVoltage-gated K+ channels (Kv) determine the excitability of heart, brain and skeletal muscle cells. Kv form octameric channel with alpha subunits that forms the pore of the channel and associated be...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ26167

Gene Ontology Provided by GOA

Process Evidence Code Pubs
atrial cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
membrane repolarization during action potential IDA
Inferred from Direct Assay
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 
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 IDA
Inferred from Direct Assay
more info
PubMed 
potassium ion export across plasma membrane IDA
Inferred from Direct Assay
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 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 
sensory perception of sound TAS
Traceable Author Statement
more info
PubMed 
synaptic transmission TAS
Traceable Author Statement
more info
 
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 
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
late endosome IDA
Inferred from Direct Assay
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
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 
Preferred Names
potassium voltage-gated channel subfamily KQT member 1
Names
potassium voltage-gated channel subfamily KQT member 1
slow delayed rectifier channel subunit
voltage-gated potassium channel subunit Kv7.1
kidney and cardiac voltage dependend K+ channel
potassium voltage-gated channel, KQT-like subfamily, member 1
IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1

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 

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

mRNA and Protein(s)

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

    See proteins identical to 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, OTTHUMP00000011540, ENST00000155840, OTTHUMT00000027382
    Conserved Domains (3) summary
    pfam00520
    Location:158347
    Ion_trans; Ion transport protein
    pfam03520
    Location:451639
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:270348
    Ion_trans_2; Ion channel
  2. NM_181798.1NP_861463.1  potassium voltage-gated channel subfamily KQT member 1 isoform 2 precursor

    See proteins identical to 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
    Conserved Domains (3) summary
    pfam00520
    Location:31220
    Ion_trans; Ion transport protein
    pfam03520
    Location:324512
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:143221
    Ion_trans_2; Ion channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

    Range
    2444991..2849110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 ALT_REF_LOCI_1

Genomic

  1. NT_187585.1 

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

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    2465155..2869215
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    2256184..2658673
    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.