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Aliases for KCNQ1 Gene

Aliases for KCNQ1 Gene

  • Potassium Voltage-Gated Channel Subfamily Q Member 1 2 3
  • Potassium Channel, Voltage Gated KQT-Like Subfamily Q, Member 1 2 3 5
  • IKs Producing Slow Voltage-Gated Potassium Channel Subunit Alpha KvLQT1 3 4
  • Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member 1 2 3
  • Voltage-Gated Potassium Channel Subunit Kv7.1 3 4
  • KVLQT1 3 4
  • KCNA8 3 4
  • KCNA9 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
  • WRS 3
  • RWS 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. Among its related pathways are Transmission across Chemical Synapses and Potassium Channels. GO annotations related to this gene include calmodulin binding and ion channel binding. An important paralog of this gene is KCNQ4.

UniProtKB/Swiss-Prot 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 an 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 an 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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNQ1 Gene

Genomics for KCNQ1 Gene

Regulatory Elements for KCNQ1 Gene

Promoters for KCNQ1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KCNQ1 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for KCNQ1 Gene

Chromosome:
11
Start:
2,444,684 bp from pter
End:
2,849,110 bp from pter
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 StructureGene Density

RefSeq DNA sequence for KCNQ1 Gene

Proteins for KCNQ1 Gene

  • 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 an 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 an 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

Proteomics data for KCNQ1 Gene at MOPED

Post-translational modifications for KCNQ1 Gene

  • Deubiquitinated by USP2; counteracts the NEDD4L-specific down-regulation of I(Ks) and restores the membrane localization.
  • 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).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNQ1 Gene

Antibody Products

No data available for DME Specific Peptides for KCNQ1 Gene

Domains & Families for KCNQ1 Gene

Gene Families for KCNQ1 Gene

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

Molecular function for KCNQ1 Gene

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
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 an 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 an 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.

Gene Ontology (GO) - Molecular Function for KCNQ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0086089 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization IMP 12522251
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

miRNA for KCNQ1 Gene

miRTarBase miRNAs that target KCNQ1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

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
Jensen Localization Image for KCNQ1 Gene COMPARTMENTS Subcellular localization image for KCNQ1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5
endosome 4
lysosome 4
vacuole 4
cytosol 1
extracellular 1
golgi apparatus 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KCNQ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 25037568
GO:0005886 plasma membrane TAS --
GO:0016323 basolateral plasma membrane IDA 21228319
GO:0034702 ion channel complex IPI 24855057
genes like me logo Genes that share ontologies with KCNQ1: view

Pathways & Interactions for KCNQ1 Gene

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

Gene Ontology (GO) - Biological Process for KCNQ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0007605 sensory perception of sound TAS 9020846
GO:0010460 positive regulation of heart rate IMP 19646991
GO:0016458 gene silencing IEA --
GO:0060048 cardiac muscle contraction IMP 8528244
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bepridil Approved, Withdrawn Pharma Pore Blocker, blocker, Target, inhibitor 0
Indapamide Approved Pharma blocker, Target, inhibitor 22
Mefenamic acid Approved Pharma Activator, inhibitor Anti-inflammatory agent 6
Niflumic Acid Approved Pharma Channel blocker, inhibitor Ca2+-activated Cl- channel blocker 0
Repaglinide Approved, Investigational Pharma Kir6 (KATP) channel blocker 50

(12) Additional Compounds for KCNQ1 Gene - From: Novoseek, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
L-364,373
103342-82-1
NS 1643
448895-37-2
NS 5806
426834-69-7
PD 118057
313674-97-4

(5) Tocris Compounds for KCNQ1 Gene

Compound Action Cas Number
Flupirtine maleate KV7 channel activator 75507-68-5
L-364,373 KV7.1 channel activator, activates IKs 103342-82-1
NS 1643 KV11.1 (hERG) channel activator; antiarrhythmic 448895-37-2
NS 5806 KV4.3 channel activator 426834-69-7
PD 118057 Selective KV11.1 (hERG) channel activator 313674-97-4
genes like me logo Genes that share compounds with KCNQ1: view

Transcripts for KCNQ1 Gene

Unigene Clusters for KCNQ1 Gene

Potassium voltage-gated channel, KQT-like subfamily, member 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

mRNA expression in normal human tissues 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, PaxDb, and MOPED for KCNQ1 Gene



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.
genes like me logo Genes that share expression patterns with KCNQ1: view

Protein tissue co-expression partners for KCNQ1 Gene

Primer Products

In Situ Assay Products

Orthologs for KCNQ1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNQ1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KCNQ1 35
  • 87.34 (n)
  • 90.43 (a)
KCNQ1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNQ1 35
  • 89.26 (n)
  • 92.08 (a)
KCNQ1 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnq1 35
  • 84.31 (n)
  • 88.54 (a)
Kcnq1 16
Kcnq1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNQ1 35
  • 96.19 (n)
  • 95.39 (a)
rat
(Rattus norvegicus)
Mammalia Kcnq1 35
  • 84.54 (n)
  • 89.76 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNQ1 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNQ1 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNQ1 35
  • 72.29 (n)
  • 80.85 (a)
KCNQ1 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNQ1 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnq1 35
  • 70.4 (n)
  • 80.21 (a)
African clawed frog
(Xenopus laevis)
Amphibia kcnq1-A 35
zebrafish
(Danio rerio)
Actinopterygii kcnq1 35
  • 65.65 (n)
  • 70.02 (a)
kcnq1 36
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta KCNQ 36
  • 24 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea kqt-1 37
  • 42 (a)
kqt-2 37
  • 30 (a)
kqt-3 37
  • 50 (a)
kqt-3 35
  • 58.82 (n)
  • 60.48 (a)
kqt-3 36
  • 52 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 57 (a)
OneToOne
Species with no ortholog for KCNQ1:
  • 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)

Paralogs for KCNQ1 Gene

Paralogs for KCNQ1 Gene

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

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

Variants for KCNQ1 Gene

Sequence variations from dbSNP and Humsavar for KCNQ1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs179489 Long QT syndrome 1 (LQT1) 2,570,652(-) CGTCC(C/G/T)GAAGA reference, missense
VAR_001517 Long QT syndrome 1 (LQT1)
VAR_001518 Long QT syndrome 1 (LQT1)
VAR_001519 Long QT syndrome 1 (LQT1)
VAR_001520 Long QT syndrome 1 (LQT1)

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

Variant ID Type Subtype PubMed ID
nsv896806 CNV Loss 21882294
nsv469928 CNV Loss 18288195
dgv1000n71 CNV Loss 21882294
nsv896811 CNV Loss 21882294
nsv896821 CNV Loss 21882294
nsv896822 CNV Loss 21882294
nsv896823 CNV Gain 21882294
nsv896824 CNV Loss 21882294
nsv509383 CNV Insertion 20534489
nsv525578 CNV Gain 19592680
dgv1001n71 CNV Loss 21882294
nsv469929 CNV Loss 18288195
nsv896827 CNV Loss 21882294
dgv1002n71 CNV Loss 21882294
nsv896829 CNV Loss 21882294
esv2744009 CNV Deletion 23290073
esv2664758 CNV Deletion 23128226
esv29429 CNV Loss 19812545
nsv39120 CNV Loss 16902084
dgv1003n71 CNV Loss 21882294
nsv896833 CNV Loss 21882294
nsv517065 CNV Gain 19592680
esv2744010 CNV Deletion 23290073
esv1004234 CNV Insertion 20482838
esv991030 CNV Deletion 20482838
dgv1004n71 CNV Loss 21882294
nsv467652 CNV Loss 19166990
esv2744011 CNV Deletion 23290073
nsv896837 CNV Loss 21882294
nsv896838 CNV Loss 21882294
nsv896839 CNV Loss 21882294
nsv896840 CNV Loss 21882294
nsv7647 CNV Insertion 18451855
nsv525453 CNV Loss 19592680
nsv526036 CNV Loss 19592680
dgv333e1 CNV Complex 17122850
nsv896841 CNV Loss 21882294
nsv896842 CNV Loss 21882294
nsv896843 CNV Loss 21882294
nsv896844 CNV Loss 21882294
dgv1005n71 CNV Loss 21882294
dgv1006n71 CNV Loss 21882294
nsv469930 CNV Loss 18288195
nsv8764 CNV Gain 18304495
dgv1007n71 CNV Loss 21882294
esv2744012 CNV Deletion 23290073

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)

Relevant External Links for KCNQ1 Gene

HapMap Linkage Disequilibrium report
KCNQ1
Human Gene Mutation Database (HGMD)
KCNQ1

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

Disorders for KCNQ1 Gene

MalaCards: The human disease database

(23) MalaCards diseases for KCNQ1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
long qt syndrome 1
  • long qt syndrome 1, acquired
jervell and lange-nielsen syndrome
  • jervell-lange nielsen syndrome
short qt syndrome 2
  • short qt syndrome-2
atrial fibrillation, familial, 3
  • familial atrial fibrillation 3
short qt syndrome
  • sqts
- 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
  • 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.
  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the bodys 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.
  • 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.
  • 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: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.
  • 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.

Relevant External Links for KCNQ1

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

No data available for Genatlas for KCNQ1 Gene

Publications for KCNQ1 Gene

  1. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. (PMID: 8528244) Wang Q. … Keating M.T. (Nat. Genet. 1996) 2 3 4 23 67
  2. Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1. (PMID: 19540844) Thomas D. … Zehelein J. (J. Mol. Cell. Cardiol. 2010) 3 23
  3. Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation. (PMID: 19646991) Abraham R.L. … Darbar D. (J. Mol. Cell. Cardiol. 2010) 3 23
  4. 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
  5. Identification of a protein-protein interaction between KCNE1 and the activation gate machinery of KCNQ1. (PMID: 20479109) Lvov A. … Kobertz W.R. (J. Gen. Physiol. 2010) 3 23

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