KCNQ1 Gene (Protein Coding)

Potassium Voltage-Gated Channel Subfamily Q Member 1

GC11P002444
GIFtS:
50
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 atr... See more...

Aliases for KCNQ1 Gene

Aliases for KCNQ1 Gene

  • Potassium Voltage-Gated Channel Subfamily Q Member 1 2 3 5
  • IKs Producing Slow Voltage-Gated Potassium Channel Subunit Alpha KvLQT1 3 4
  • Potassium Channel, Voltage Gated KQT-Like Subfamily Q, Member 1 2 3
  • Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member 1 2 3
  • Potassium Voltage-Gated Channel Subfamily KQT Member 1 3 4
  • Voltage-Gated Potassium Channel Subunit Kv7.1 3 4
  • KVLQT1 3 4
  • KCNA9 3 4
  • KCNA8 3 4
  • Kidney And Cardiac Voltage Dependend K+ Channel 3
  • Slow Delayed Rectifier Channel Subunit 3
  • Jervell And Lange-Nielsen Syndrome 1 2
  • KQT-Like 1 4
  • ATFB1 3
  • ATFB3 3
  • JLNS1 3
  • Kv1.9 3
  • Kv7.1 3
  • LQT1 3
  • SQT2 3
  • RWS 3
  • WRS 3
  • LQT 3

External Ids for KCNQ1 Gene

Previous HGNC Symbols for KCNQ1 Gene

  • LQT
  • KCNA9

Previous GeneCards Identifiers for KCNQ1 Gene

  • GC11P002527
  • GC11P002669
  • GC11P002425
  • GC11P002430
  • GC11P002422
  • GC11P002466
  • GC11P002256

Summaries for KCNQ1 Gene

Entrez Gene Summary for KCNQ1 Gene

  • 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]

GeneCards Summary for KCNQ1 Gene

KCNQ1 (Potassium Voltage-Gated Channel Subfamily Q Member 1) is a Protein Coding gene. Diseases associated with KCNQ1 include Long Qt Syndrome 1 and Jervell And Lange-Nielsen Syndrome 1. Among its related pathways are Phase 0 - rapid depolarisation and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include calmodulin binding and ion channel binding. An important paralog of this gene is KCNQ5.

UniProtKB/Swiss-Prot Summary for KCNQ1 Gene

  • Potassium channel that plays an important role in a number of tissues, including heart, inner ear, stomach and colon (By similarity) (PubMed:10646604). Associates with KCNE beta subunits that modulates current kinetics (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505, PubMed:19687231). Induces a voltage-dependent by rapidly activating and slowly deactivating potassium-selective outward current (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505). Promotes also a delayed voltage activated potassium current showing outward rectification characteristic (By similarity). During beta-adrenergic receptor stimulation participates in cardiac repolarization by associating with KCNE1 to form the I(Ks) cardiac potassium current that increases the amplitude and slows down the activation kinetics of outward potassium current I(Ks) (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505). Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current (PubMed:10713961). When associated with KCNE3, forms the potassium channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions (PubMed:10646604). This interaction with KCNE3 is reduced by 17beta-estradiol, resulting in the reduction of currents (By similarity). During conditions of increased substrate load, maintains the driving force for proximal tubular and intestinal sodium ions absorption, gastric acid secretion, and cAMP-induced jejunal chloride ions secretion (By similarity). Allows the provision of potassium ions to the luminal membrane of the secretory canaliculus in the resting state as well as during stimulated acid secretion (By similarity). When associated with KCNE2, forms a heterooligomer complex leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505). When associated with KCNE4, inhibits voltage-gated potassium channel activity (PubMed:19687231). When associated with KCNE5, this complex only conducts current upon strong and continued depolarization (PubMed:12324418). Also forms a heterotetramer with KCNQ5; has a voltage-gated potassium channel activity (PubMed:24855057). Binds with phosphatidylinositol 4,5-bisphosphate (PubMed:25037568).
  • Isoform 2: Non-functional alone but modulatory when coexpressed with the full-length isoform 1.

Tocris Summary for KCNQ1 Gene

  • Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.

Gene Wiki entry for KCNQ1 Gene

Additional gene information for KCNQ1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNQ1 Gene

Genomics for KCNQ1 Gene

GeneHancer (GH) Regulatory Elements for KCNQ1 Gene

Promoters and enhancers for KCNQ1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11J002443 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 759.2 +1.6 1602 4.6 CTCF GLIS2 ZIC2 PATZ1 SP2 ZFX POLR2A EZH2 ZNF423 ZFHX2 KCNQ1 HSALNG0082233 NONHSAG007430.2 C11orf21 TSPAN32 TRPM5 TSSC4 INS piR-48369-028
GH11J002459 Promoter/Enhancer 1.3 EPDnew FANTOM5 ENCODE dbSUPER 762.6 +17.0 16977 5.2 ZNF644 ZNF7 SCRT2 TCF7L2 TEAD1 ZFHX2 NFIA VEZF1 TEAD3 JUND KCNQ1 TRPM5 NONHSAG007430.2 piR-48369-028
GH11J002442 Enhancer 0.3 ENCODE 750.6 -1.9 -1898 0.2 NFIC HSALNG0082233 KCNQ1 TRPM5
GH11J002466 Promoter/Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 17.5 +22.6 22617 1 MYC MAX ELF1 RUNX3 GABPA POLR2A KCNQ1 piR-48369-028 NONHSAG007430.2
GH11J002376 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.5 -60.0 -60038 16.2 GTF3C2 ZNF24 FOXA1 SMARCE1 POLR2A RELA L3MBTL2 MAX NKRF ZFX CD81 MOB2 ENSG00000199550 KCNQ1 CD81-AS1 lnc-TSSC4-2 NONHSAG007426.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNQ1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNQ1 gene promoter:
  • Sp1

Genomic Locations for KCNQ1 Gene

Genomic Locations for KCNQ1 Gene
chr11:2,444,684-2,849,110
(GRCh38/hg38)
Size:
404,427 bases
Orientation:
Plus strand
chr11:2,465,914-2,870,340
(GRCh37/hg19)
Size:
404,427 bases
Orientation:
Plus strand

Genomic View for KCNQ1 Gene

Genes around KCNQ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNQ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNQ1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KCNQ1 Gene

Proteins for KCNQ1 Gene

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  • Protein details for KCNQ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51787-KCNQ1_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily KQT member 1
    Protein Accession:
    P51787
    Secondary Accessions:
    • O00347
    • O60607
    • O94787
    • Q14D14
    • Q7Z6G9
    • Q92960
    • Q9UMN8
    • Q9UMN9

    Protein attributes for KCNQ1 Gene

    Size:
    676 amino acids
    Molecular mass:
    74699 Da
    Quaternary structure:
    • Tetramer (PubMed:18165683, PubMed:19693805). Heterotetramer with KCNE1; targets to the membrane raft (PubMed:25037568, PubMed:19693805, PubMed:20533308). Interacts (via C-terminus) with CALM; forms a heterotetramer in a calcium-independent manner (PubMed:18165683). Interacts with AKAP9; targets protein kinase A (PKA) catalytic and regulatory subunits and protein phosphatase 1 (PP1) to the KCNQ1-KCNE1 complex, allowing PKA-mediated phosphorylation and increase of delayed rectifier potassium channel activity (PubMed:11799244, PubMed:25037568). Interacts with KCNE2; forms a heterooligomer complex that targets to the membrane raft and leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505, PubMed:20533308). Interacts with AP2M1; mediates estrogen-induced internalization via clathrin-coated vesicles (PubMed:23529131). Interacts with NEDD4L; promotes internalization and decreases I(Ks) currents (PubMed:23529131, PubMed:22024150). Interacts with USP2; counteracts the NEDD4L-specific down-regulation of I(Ks) and restore plasma membrane localization (PubMed:22024150). Heterotetramer with KCNQ5; has a voltage-gated potassium channel activity (PubMed:24855057). Interacts with KCNE3; alters membrane raft localization (PubMed:20533308). Interacts with KCNE4; impairs KCNQ1 localization in lipid rafts and inhibits voltage-gated potassium channel activity (PubMed:19687231, PubMed:20533308). Interacts with KCNE5; impairs KCNQ1 localization in lipid rafts and only conducts current upon strong and continued depolarization (PubMed:20533308, PubMed:12324418).
    Miscellaneous:
    • Mutagenesis experiments were carried out by expressing in Xenopus oocytes or COS-7 cells KCNQ1 mutants either individually (homomultimers) or in combination with both wild-type KCNQ1 (mut/wt homomultimers) and minK (heteromultimers).
    SequenceCaution:
    • Sequence=AAC51781.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=BAA34739.1; Type=Frameshift; Positions=129, 159; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KCNQ1 Gene

    Alternative splice isoforms for KCNQ1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNQ1 Gene

Protein Expression for KCNQ1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KCNQ1 Gene

  • Phosphorylation at Ser-27 by PKA; increases delayed rectifier potassium channel activity of the KCNQ1-KCNE1 complex through a macromolecular complex that includes PKA, PP1, and the targeting protein AKAP9.
  • Ubiquitinated by NEDD4L; promotes internalization (PubMed:22024150). The ubiquitinylated form is internalized through a clathrin-mediated endocytosis by interacting with AP2M1 and is recycled back to the cell membrane via RAB4A and RAB11A (PubMed:23529131).
  • Deubiquitinated by USP2; counteracts the NEDD4L-specific down-regulation of I(Ks) and restores the membrane localization.
  • Glycosylation at Asn289
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNQ1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for KCNQ1
  • Boster Bio Antibodies for KCNQ1

No data available for DME Specific Peptides for KCNQ1 Gene

Domains & Families for KCNQ1 Gene

Gene Families for KCNQ1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Protein Domains for KCNQ1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KCNQ1 Gene

GenScript: Design optimal peptide antigens:
  • Potassium voltage-gated channel isoform 1 (A0FIK7_HUMAN)
  • Potassium voltage-gated channel isoform 2 (A0FIK8_HUMAN)
  • Voltage-gated potassium channel subunit Kv7.1 (KCNQ1_HUMAN)
  • cDNA FLJ76116, highly similar to Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 2, mRNA (Q14D14_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51787

UniProtKB/Swiss-Prot:

KCNQ1_HUMAN :
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
  • Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.1/KCNQ1 sub-subfamily.
Domain:
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
  • The coiled-coil domain mediates tetramerization.
  • The segment S6 is involved in the inhibition of voltage-gated potassium channel activity by KCNE4.
  • The C-terminal assembly domain promotes self-interactiona; allows functional channel.
Family:
  • Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.1/KCNQ1 sub-subfamily.
genes like me logo Genes that share domains with KCNQ1: view

Function for KCNQ1 Gene

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  2. CRISPR
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Molecular function for KCNQ1 Gene

UniProtKB/Swiss-Prot Function:
Potassium channel that plays an important role in a number of tissues, including heart, inner ear, stomach and colon (By similarity) (PubMed:10646604). Associates with KCNE beta subunits that modulates current kinetics (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505, PubMed:19687231). Induces a voltage-dependent by rapidly activating and slowly deactivating potassium-selective outward current (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505). Promotes also a delayed voltage activated potassium current showing outward rectification characteristic (By similarity). During beta-adrenergic receptor stimulation participates in cardiac repolarization by associating with KCNE1 to form the I(Ks) cardiac potassium current that increases the amplitude and slows down the activation kinetics of outward potassium current I(Ks) (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505). Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current (PubMed:10713961). When associated with KCNE3, forms the potassium channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions (PubMed:10646604). This interaction with KCNE3 is reduced by 17beta-estradiol, resulting in the reduction of currents (By similarity). During conditions of increased substrate load, maintains the driving force for proximal tubular and intestinal sodium ions absorption, gastric acid secretion, and cAMP-induced jejunal chloride ions secretion (By similarity). Allows the provision of potassium ions to the luminal membrane of the secretory canaliculus in the resting state as well as during stimulated acid secretion (By similarity). When associated with KCNE2, forms a heterooligomer complex leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505). When associated with KCNE4, inhibits voltage-gated potassium channel activity (PubMed:19687231). When associated with KCNE5, this complex only conducts current upon strong and continued depolarization (PubMed:12324418). Also forms a heterotetramer with KCNQ5; has a voltage-gated potassium channel activity (PubMed:24855057). Binds with phosphatidylinositol 4,5-bisphosphate (PubMed:25037568).
UniProtKB/Swiss-Prot Function:
Isoform 2: Non-functional alone but modulatory when coexpressed with the full-length isoform 1.
GENATLAS Biochemistry:
potassium voltage-gated channel,KQT subfamily,member 1,Drosophila shaker-related subfamily,associating with KCNE1 to form the slow delayed-rectifier IKS channel,paternally imprinted (centromeric imprinting domain at 11p15,containing TSSC3,TSSC5 and KCNQ1) in a tissue specific pattern with six isoforms,predominantly expressed in heart,also in stria vascularis that secretes the endolymph,not expressed in skeletal muscle,may be disrupted in (some) Beckwith-Wiedemann syndromes,see also LIT1

Phenotypes From GWAS Catalog for KCNQ1 Gene

Gene Ontology (GO) - Molecular Function for KCNQ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 contributes_to voltage-gated potassium channel activity IDA,IEA 16002409
GO:0005251 contributes_to delayed rectifier potassium channel activity IDA 8900283
GO:0005267 potassium channel activity IEA --
GO:0005515 protein binding IPI 19521339
genes like me logo Genes that share ontologies with KCNQ1: view
genes like me logo Genes that share phenotypes with KCNQ1: view

Human Phenotype Ontology for KCNQ1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNQ1 Gene

MGI Knock Outs for KCNQ1:

Animal Model Products

CRISPR Products

miRNA for KCNQ1 Gene

miRTarBase miRNAs that target KCNQ1

Clone Products

  • Addgene plasmids for KCNQ1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNQ1 Gene

Localization for KCNQ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNQ1 Gene

Cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane. Early endosome. Membrane raft. Endoplasmic reticulum. Basolateral cell membrane. Note=Colocalized with KCNE3 at the plasma membrane (PubMed:10646604). Upon 17beta-oestradiol treatment, colocalizes with RAB5A at early endosome (PubMed:23529131). Heterotetramer with KCNQ5 is highly retained at the endoplasmic reticulum and is localized outside of lipid raft microdomains (PubMed:24855057). During the early stages of epithelial cell polarization induced by the calcium switch it removed from plasma membrane to the endoplasmic reticulum where it retained and it is redistributed to the basolateral cell surface in a PI3K-dependent manner at a later stage (PubMed:21228319). {ECO:0000269 PubMed:10646604, ECO:0000269 PubMed:21228319, ECO:0000269 PubMed:23529131, ECO:0000269 PubMed:24855057}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNQ1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
endosome 4
lysosome 4
extracellular 1
cytoskeleton 1
nucleus 1
cytosol 1
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for KCNQ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 25037568
GO:0005764 lysosome IDA 21957902
GO:0005768 endosome IEA --
GO:0005769 colocalizes_with early endosome IDA,IMP 23529131
GO:0005770 late endosome IDA 21957902
genes like me logo Genes that share ontologies with KCNQ1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNQ1 Gene

Pathways & Interactions for KCNQ1 Gene

genes like me logo Genes that share pathways with KCNQ1: view

Pathways by source for KCNQ1 Gene

1 GeneGo (Thomson Reuters) pathway for KCNQ1 Gene
1 Qiagen pathway for KCNQ1 Gene
  • Dopamine-DARPP32 Feedback onto cAMP Pathway

Gene Ontology (GO) - Biological Process for KCNQ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006349 regulation of gene expression by genetic imprinting IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0007605 sensory perception of sound TAS 9020846
GO:0008016 regulation of heart contraction IC 8900283
genes like me logo Genes that share ontologies with KCNQ1: view

No data available for SIGNOR curated interactions for KCNQ1 Gene

Drugs & Compounds for KCNQ1 Gene

Products:

  1. Drug

(104) Drugs for KCNQ1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bepridil Approved, Withdrawn Pharma Pore Blocker, Target, inhibitor, blocker 0
Ezogabine Approved, Investigational Pharma Activator, activator Activator of voltage-gated potassium channel, an anticonvulsant agent 28
Indapamide Approved Pharma blocker 38
Mefenamic acid Approved Pharma Activator, Channel blocker, inhibitor Anti-inflammatory agent 11
Potassium Approved, Experimental Pharma 0

(5) Additional Compounds for KCNQ1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) Tocris Compounds for KCNQ1 Gene

Compound Action Cas Number
Chromanol 293B IKs blocker. Also blocks ICFTR 163163-23-3
Flupirtine maleate KV7 channel activator 75507-68-5
Kaliotoxin KV and KCa blocker 145199-73-1
MaxiPost Potassium channel modulator; exerts subtype-specific effects 187523-35-9

(65) ApexBio Compounds for KCNQ1 Gene

Compound Action Cas Number
(-)-[3R,4S]-Chromanol 293B 163163-24-4
1-EBIO 10045-45-1
4-Aminopyridine potassium channel-blocking agent 504-24-5
Agitoxin 2 168147-41-9
AM 92016 hydrochloride Potassium channel blocker 133229-11-5
Apamin 24345-16-2
Azimilide 149908-53-2
Azimilide Dihydrochloride 149888-94-8
BDS I
Charybdotoxin 95751-30-7
Chromanol 293B 163163-23-3
CP 339818 hydrochloride 478341-55-8
Cromakalim 94470-67-4
CyPPA 73029-73-9
DMP 543 160588-45-4
DPO-1 43077-30-1
Dronedarone 141626-36-0
Dronedarone HCl Antiarrhythmic drugs 141625-93-6
E-4031 dihydrochloride 113559-13-0
GW 542573X 660846-41-3
Iberiotoxin 129203-60-7
ICA 069673 582323-16-8
ICA 110381 325457-99-6
JNJ 303 potent blocker of the slow component of delayed rectifier potassium current (IKs) 878489-28-2
Kaliotoxin 145199-73-1
L-364,373 103342-82-1
Levcromakalim 94535-50-9
Linopirdine dihydrochloride 113168-57-3
Margatoxin 145808-47-5
MaxiPost 187523-35-9
ML 213 489402-47-3
ML 277 1401242-74-7
ML365 947914-18-3
Nicorandil Potassium channel activator 65141-46-0
Nonactin 6833-84-7
NS 11021 956014-19-0
NS 1619 153587-01-0
NS 1643 448895-37-2
NS 3623 343630-41-1
NS 5806 426834-69-7
NS309 18711-16-5
P1075 60559-98-0
PD 118057 313674-97-4
Penitrem A 12627-35-9
PNU 37883 hydrochloride 57568-80-6
Retigabine Activator of voltage-gated potassium channel, an anticonvulsant agent 150812-12-7
RuBi-4AP 851956-02-0
ShK-Dap22 220384-25-8
SKA 31 40172-65-4
Tertiapin LQ
Tertiapin-Q 252198-49-5
Tetraethylammonium chloride K+ channel blocker 56-34-8
Tolbutamide CAMP inhibitor 64-77-7
Tolbutamide Sodium 473-41-6
UCL 1684 199934-16-2
UCL 2077 918311-87-2
UK 78282 hydrochloride 136647-02-4
Valinomycin potassium-specific transporter 2001-95-8
VU 590 dihydrochloride 313505-85-0
VU 591 hydrochloride 1315380-70-1
XE 991 dihydrochloride 122955-13-9
Y-26763 127408-31-5
Y-27152 127408-30-4
YS-035 hydrochloride 89805-39-0
ZM 226600 147695-92-9
genes like me logo Genes that share compounds with KCNQ1: view

Drug Products

Transcripts for KCNQ1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for KCNQ1 Gene

(3) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(98) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for KCNQ1

Alternative Splicing Database (ASD) splice patterns (SP) for KCNQ1 Gene

No ASD Table

Relevant External Links for KCNQ1 Gene

GeneLoc Exon Structure for
KCNQ1
ECgene alternative splicing isoforms for
KCNQ1

Expression for KCNQ1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNQ1 Gene

mRNA expression in normal human tissues for KCNQ1 Gene
mRNA expression by GTEx for KCNQ1 GenemRNA expression by BioGPS for KCNQ1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNQ1 Gene

This gene is overexpressed in Adrenal Gland (x14.9), Stomach (x7.3), and Pancreas (x5.1).

Protein differential expression in normal tissues from HIPED for KCNQ1 Gene

This gene is overexpressed in Adrenal (65.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KCNQ1 Gene



Protein tissue co-expression partners for KCNQ1 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNQ1 Gene:

KCNQ1

SOURCE GeneReport for Unigene cluster for KCNQ1 Gene:

Hs.95162

mRNA Expression by UniProt/SwissProt for KCNQ1 Gene:

P51787-KCNQ1_HUMAN
Tissue specificity: Abundantly expressed in heart, pancreas, prostate, kidney, small intestine and peripheral blood leukocytes. Less abundant in placenta, lung, spleen, colon, thymus, testis and ovaries.

Evidence on tissue expression from TISSUES for KCNQ1 Gene

  • Heart(4.7)
  • Kidney(4.5)
  • Pancreas(4.5)
  • Muscle(3)
  • Stomach(2.7)
  • Intestine(2.5)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNQ1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • head
  • inner ear
Thorax:
  • heart
  • heart valve
  • lung
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nervous system
  • red blood cell
genes like me logo Genes that share expression patterns with KCNQ1: view

Orthologs for KCNQ1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNQ1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia KCNQ1 32
  • 96.19 (n)
oppossum
(Monodelphis domestica)
 Mammalia KCNQ1 33
  • 94 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia KCNQ1 33 32
  • 89.26 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia KCNQ1 33 32
  • 87.34 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Kcnq1 32
  • 84.54 (n)
mouse
(Mus musculus)
 Mammalia Kcnq1 17 33 32
  • 84.31 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia KCNQ1 33
  • 68 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves KCNQ1 33 32
  • 72.29 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia KCNQ1 33
  • 73 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia kcnq1 32
  • 70.4 (n)
African clawed frog
(Xenopus laevis)
 Amphibia kcnq1-A 32
zebrafish
(Danio rerio)
 Actinopterygii kcnq1 33 32
  • 65.65 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta KCNQ 33
  • 24 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea kqt-3 33 34 32
  • 58.82 (n)
 OneToOne
kqt-1 34
  • 42 (a)
kqt-2 34
  • 30 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 57 (a)
 OneToOne
Species where no ortholog for KCNQ1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCNQ1 Gene

ENSEMBL:
Gene Tree for KCNQ1 (if available)
TreeFam:
Gene Tree for KCNQ1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCNQ1: view image

Paralogs for KCNQ1 Gene

Paralogs for KCNQ1 Gene

(5) SIMAP similar genes for KCNQ1 Gene using alignment to 6 proteins:

  • KCNQ1_HUMAN
  • A0FIK7_HUMAN
  • A0FIK8_HUMAN
  • E9PPZ0_HUMAN
  • F8W824_HUMAN
  • Q14D14_HUMAN
genes like me logo Genes that share paralogs with KCNQ1: view

Variants for KCNQ1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for KCNQ1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1001293702 uncertain-significance, Long QT syndrome 2,572,964(+) C/A coding_sequence_variant, missense_variant
rs104894252 pathogenic, not-provided, Long QT syndrome 1, Congenital long QT syndrome, not provided, Long QT syndrome 1 (LQT1) [MIM:192500] 2,570,715(+) G/A/C coding_sequence_variant, missense_variant
rs104894255 not-provided, pathogenic, Congenital long QT syndrome, not provided, Long QT syndrome 1 (LQT1) [MIM:192500] 2,583,459(+) G/A/C/T coding_sequence_variant, missense_variant
rs1057128 benign, not specified, Cardiovascular phenotype, Familial atrial fibrillation, short QT syndrome, Long QT syndrome, Jervell and Lange-Nielsen syndrome, Romano-Ward syndrome, Arrhythmia 2,776,007(+) G/A coding_sequence_variant, synonymous_variant
rs1057518902 uncertain-significance, Arrhythmia 2,588,810(+) A/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for KCNQ1 Gene

Variant ID Type Subtype PubMed ID
dgv1574n54 CNV loss 21841781
dgv573n106 CNV deletion 24896259
esv1004234 CNV insertion 20482838
esv2664758 CNV deletion 23128226
esv2744009 CNV deletion 23290073
esv2744010 CNV deletion 23290073
esv2744011 CNV deletion 23290073
esv2744012 CNV deletion 23290073
esv2759795 CNV gain 17122850
esv29429 CNV loss 19812545
esv3389066 CNV insertion 20981092
esv3579244 CNV loss 25503493
esv3625126 CNV loss 21293372
esv3625127 CNV loss 21293372
esv3625128 CNV loss 21293372
esv3625129 CNV loss 21293372
esv3625131 CNV loss 21293372
esv7608 CNV gain 19470904
esv991030 CNV deletion 20482838
nsv1037537 CNV gain 25217958
nsv1047967 CNV loss 25217958
nsv1053066 CNV gain 25217958
nsv1069547 CNV deletion 25765185
nsv1069548 CNV deletion 25765185
nsv1069549 CNV deletion 25765185
nsv1070930 CNV deletion 25765185
nsv1112603 CNV deletion 24896259
nsv1134082 CNV deletion 24896259
nsv39120 CNV deletion 16902084
nsv467652 CNV loss 19166990
nsv469928 CNV loss 18288195
nsv469929 CNV loss 18288195
nsv469930 CNV loss 18288195
nsv509383 CNV insertion 20534489
nsv517065 CNV gain 19592680
nsv525453 CNV loss 19592680
nsv525578 CNV gain 19592680
nsv526036 CNV loss 19592680
nsv553109 CNV loss 21841781
nsv553110 CNV loss 21841781
nsv553111 CNV loss 21841781
nsv7647 CNV insertion 18451855
nsv8764 CNV gain 18304495
nsv951287 CNV deletion 24416366
nsv951288 CNV deletion 24416366
nsv951289 CNV deletion 24416366
nsv951290 CNV deletion 24416366
nsv951291 CNV deletion 24416366
nsv951292 CNV deletion 24416366
nsv975139 CNV duplication 23825009

Variation tolerance for KCNQ1 Gene

Residual Variation Intolerance Score: 9.14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.49; 43.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNQ1 Gene

Human Gene Mutation Database (HGMD)
KCNQ1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNQ1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNQ1 Gene

Disorders for KCNQ1 Gene

MalaCards: The human disease database

(41) MalaCards diseases for KCNQ1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search KCNQ1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNQ1_HUMAN
  • Long QT syndrome 1 (LQT1) [MIM:192500]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269 PubMed:10024302, ECO:0000269 PubMed:10220144, ECO:0000269 PubMed:10220146, ECO:0000269 PubMed:10367071, ECO:0000269 PubMed:10409658, ECO:0000269 PubMed:10482963, ECO:0000269 PubMed:10728423, ECO:0000269 PubMed:10973849, ECO:0000269 PubMed:11799244, ECO:0000269 PubMed:12442276, ECO:0000269 PubMed:15840476, ECO:0000269 PubMed:16414944, ECO:0000269 PubMed:16922724, ECO:0000269 PubMed:18165683, ECO:0000269 PubMed:18400097, ECO:0000269 PubMed:19540844, ECO:0000269 PubMed:19716085, ECO:0000269 PubMed:19808498, ECO:0000269 PubMed:21241800, ECO:0000269 PubMed:24184248, ECO:0000269 PubMed:24269949, ECO:0000269 PubMed:24713462, ECO:0000269 PubMed:25037568, ECO:0000269 PubMed:25139741, ECO:0000269 PubMed:25705178, ECO:0000269 PubMed:8528244, ECO:0000269 PubMed:8818942, ECO:0000269 PubMed:8872472, ECO:0000269 PubMed:9024139, ECO:0000269 PubMed:9272155, ECO:0000269 PubMed:9302275, ECO:0000269 PubMed:9312006, ECO:0000269 PubMed:9323054, ECO:0000269 PubMed:9386136, ECO:0000269 PubMed:9482580, ECO:0000269 PubMed:9570196, ECO:0000269 PubMed:9641694, ECO:0000269 PubMed:9693036, ECO:0000269 PubMed:9702906, ECO:0000269 PubMed:9799083, ECO:0000269 PubMed:9927399, ECO:0000269 Ref.31}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400]: An autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death. {ECO:0000269 PubMed:10090886, ECO:0000269 PubMed:10728423, ECO:0000269 PubMed:18400097, ECO:0000269 PubMed:18441444, ECO:0000269 PubMed:25705178, ECO:0000269 PubMed:9781056}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Atrial fibrillation, familial, 3 (ATFB3) [MIM:607554]: An autosomal dominant form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269 PubMed:12522251}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Short QT syndrome 2 (SQT2) [MIM:609621]: A heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It causes syncope and sudden death. {ECO:0000269 PubMed:15159330}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269 PubMed:18711366, ECO:0000269 PubMed:18711367, ECO:0000269 PubMed:24390345}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for KCNQ1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KCNQ1: view

No data available for Genatlas for KCNQ1 Gene

Publications for KCNQ1 Gene

  1. SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations. (PMID: 18711366) Unoki H … Maeda S (Nature genetics 2008) 3 4 23 43 56
  2. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. (PMID: 8528244) Wang Q … Keating MT (Nature genetics 1996) 2 3 4 23 56
  3. A single nucleotide polymorphism in KCNQ1 is associated with susceptibility to diabetic nephropathy in japanese subjects with type 2 diabetes. (PMID: 20056949) Ohshige T … Maeda S (Diabetes care 2010) 3 23 43 56
  4. Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1. (PMID: 19540844) Thomas D … Zehelein J (Journal of molecular and cellular cardiology 2010) 3 4 23 56
  5. Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. (PMID: 19716085) Kapplinger JD … Ackerman MJ (Heart rhythm 2009) 3 4 43 56

ExternalLinks

View latest publications for KCNQ1 gene in Mastermind

Products for KCNQ1 Gene

  • Addgene plasmids for KCNQ1

Sources for KCNQ1 Gene