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

    Gene ID: 3784, updated on 25-Aug-2016
    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 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
    Location:
    11p15.5
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 cytochrome c oxidase subunit 6C pseudogene 18 Neighboring gene KCNQ1 antisense RNA 1 Neighboring gene KCNQ1 downstream neighbor (non-protein coding) Neighboring gene cyclin dependent kinase inhibitor 1C

    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
    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
    • 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...
    • Cardiac conduction, organism-specific biosystem (from REACTOME)
      Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
    • 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...
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • 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...
    • Phase 2 - plateau phase, organism-specific biosystem (from REACTOME)
      Phase 2 - plateau phase, organism-specific biosystemPhase 2 of the cardiac action potential is the plateau phase which is sustained by a balance of Ca2+ influx through L-type Ca2+ channels (LTCCs) and K+ efflux through the slow delayed rectifier K+ ch...
    • Phase 3 - rapid repolarisation, organism-specific biosystem (from REACTOME)
      Phase 3 - rapid repolarisation, organism-specific biosystemIn phase 3 (the "rapid repolarisation" phase), the L-type Ca2+ channels close, while the slow delayed rectifier (IKs) K+ channels remain open as more K+ leak channels open. This ensures a net outward...
    • 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

    Function Evidence Code Pubs
    calmodulin binding IDA
    Inferred from Direct Assay
    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 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 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 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 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 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 defense response to virus by host 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 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 
    xenophagy 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 
    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 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
    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

    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_000218.2NP_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, OTTHUMP00000011540, ENST00000155840, OTTHUMT00000027382
      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, OTTHUMP00000011587, ENST00000335475, OTTHUMT00000027517
      Conserved Domains (3) summary
      pfam00520
      Location:26232
      Ion_trans; Ion transport protein
      pfam03520
      Location:384490
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam07885
      Location:143222
      Ion_trans_2; Ion channel

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

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

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187585.1 Reference GRCh38.p7 ALT_REF_LOCI_1

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      2465155..2869215
      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.