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KCNQ1 Gene

protein-coding   GIFtS: 73
GCID: GC11P002466

Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member...


(Previous symbols: LQT, KCNA9)
  See KCNQ1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member 11 2     ATFB12
KCNA91 2 3 5     JLNS12
KVLQT12 3 5     Kv1.92
LQT1 2     Kv7.12
Voltage-Gated Potassium Channel Subunit Kv7.12 3     RWS2
KCNA82 3     WRS2
IKs Producing Slow Voltage-Gated Potassium Channel Subunit Alpha KvLQT12 3     Kidney And Cardiac Voltage Dependend K+ Channel2
ATFB32 5     Potassium Voltage-Gated Channel Subfamily KQT Member 12
LQT12 5     Slow Delayed Rectifier Channel Subunit2
SQT22 5     KQT-Like 13
Jervell And Lange-Nielsen Syndrome 11     

External Ids:    HGNC: 62941   Entrez Gene: 37842   Ensembl: ENSG000000539187   OMIM: 6075425   UniProtKB: P517873   

Export aliases for KCNQ1 gene to outside databases

Previous GC identifers: GC11P002527 GC11P002669 GC11P002425 GC11P002430 GC11P002422 GC11P002256


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, KQT-like subfamily, member 1) is a protein-coding gene. Diseases associated with KCNQ1 include short qt syndrome, and familial atrial fibrillation. GO annotations related to this gene include calmodulin binding and voltage-gated potassium channel activity. An important paralog of this gene is KCNQ3.

UniProtKB/Swiss-Prot: KCNQ1_HUMAN, P51787
Function: Probably important in cardiac repolarization. Associates with KCNE1 (MinK) to form the I(Ks) cardiac
potassium current. Elicits a rapidly activating, potassium-selective outward current. Muscarinic agonist
oxotremorine-M strongly suppresses KCNQ1/KCNE1 current in CHO cells in which cloned KCNQ1/KCNE1 channels were
coexpressed with M1 muscarinic receptors. May associate also with KCNE3 (MiRP2) to form the potassium channel
that is important for cyclic AMP-stimulated intestinal secretion of chloride ions, which is reduced in cystic
fibrosis and pathologically stimulated in cholera and other forms of secretory diarrhea

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 pore-forming alpha-subunits
contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed
within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCNQ1 (KvLQT1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_009237.19  NT_187585.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNQ1 gene promoter:
         Sp1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNQ1 promoter sequence
   Search Chromatin IP Primers for KCNQ1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNQ1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.5   HGNC cytogenetic band: 11p15.5

KCNQ1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNQ1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P002466:  view genomic region     (about GC identifiers)

Start:
2,465,914 bp from pter      End:
2,870,340 bp from pter
Size:
404,427 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for KCNQ1

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KCNQ1_HUMAN, P51787 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily KQT member 1  
Size: 676 amino acids; 74699 Da
Subunit: Heterotetramer with KCNE1 (MinK) or KCNE3 (MiRP2). Interacts with CALM
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)
Sequence caution: Sequence=BAA34739.1; Type=Frameshift; Positions=129, 159;
3 PDB 3D structures from and Proteopedia for KCNQ1:
3BJ4 (3D)        3HFC (3D)        3HFE (3D)    
Secondary accessions: O00347 O60607 O94787 Q7Z6G9 Q92960 Q9UMN8 Q9UMN9
Alternative splicing: 2 isoforms:  P51787-1   P51787-2   (Truncated isoform that is non-functional alone but modulatory when coexpressed with the full-length isoform 1)

Explore the universe of human proteins at neXtProt for KCNQ1: NX_P51787

Explore proteomics data for KCNQ1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn289
  • Modification sites at PhosphoSitePlus

  • See KCNQ1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000209.2  NP_861463.1  

    ENSEMBL proteins: 
     ENSP00000434560   ENSP00000155840   ENSP00000334497   ENSP00000370153  
    Reactome Protein details: P51787

    KCNQ1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    KCN: Potassium channels
    Kv: Voltage-gated ion channels / Potassium channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: Kv7.1
    Voltage-gated potassium channels

    Selected InterPro protein domains (see all 6):
     IPR005827 K_chnl_volt-dep_KCQN1
     IPR005821 Ion_trans_dom
     IPR003937 K_chnl_volt-dep_KCNQ
     IPR028325 VG_K_chnl
     IPR003091 K_chnl

    Graphical View of Domain Structure for InterPro Entry P51787

    ProtoNet protein and cluster: P51787

    2 Blocks protein domains:
    IPB005827 KCNQ1 voltage-gated potassium channel signature
    IPB013821 KCNQ voltage-gated potassium channel


    UniProtKB/Swiss-Prot: KCNQ1_HUMAN, P51787
    Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino
    acids at every third position
    Similarity: Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.1/KCNQ1 sub-subfamily


    Find genes that share domains with KCNQ1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCNQ1_HUMAN, P51787
    Function: Probably important in cardiac repolarization. Associates with KCNE1 (MinK) to form the I(Ks) cardiac
    potassium current. Elicits a rapidly activating, potassium-selective outward current. Muscarinic agonist
    oxotremorine-M strongly suppresses KCNQ1/KCNE1 current in CHO cells in which cloned KCNQ1/KCNE1 channels were
    coexpressed with M1 muscarinic receptors. May associate also with KCNE3 (MiRP2) to form the potassium channel
    that is important for cyclic AMP-stimulated intestinal secretion of chloride ions, which is reduced in cystic
    fibrosis and pathologically stimulated in cholera and other forms of secretory diarrhea

         Genatlas biochemistry entry for KCNQ1:
    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

         Gene Ontology (GO): Selected molecular function terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005249voltage-gated potassium channel activity IDA17289006
    GO:0005251contributes to delayed rectifier potassium channel activity IDA10400998
    GO:0005267potassium channel activity ----
    GO:0005515protein binding IPI19521339
         
    Find genes that share ontologies with KCNQ1           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Kcnq1):
     behavior/neurological  cardiovascular system  digestive/alimentary  growth/size/body  hearing/vestibular/ear 
     homeostasis/metabolism  muscle  nervous system  normal 

    Find genes that share phenotypes with KCNQ1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for KCNQ1: Kcnq1tm1Kpfe Kcnq1tm1Apf

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KCNQ1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KCNQ1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KCNQ1

    miRNA
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    miRTarBase miRNAs that target KCNQ1:
    hsa-mir-133a-3p (MIRT002925)

    Block miRNA regulation of human, mouse, rat KCNQ1 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate KCNQ1:
    hsa-miR-365 hsa-miR-146b-3p hsa-miR-874
    SwitchGear 3'UTR luciferase reporter plasmidKCNQ1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KCNQ1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): KCNQ1 (NM_000218)
    Sino Biological Human cDNA Clone for KCNQ1
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    Addgene plasmids for KCNQ1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNQ1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KCNQ1_HUMAN, P51787: Cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass
    membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endosome4
    lysosome4
    vacuole4
    endoplasmic reticulum2
    extracellular2
    golgi apparatus1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IDA--
    GO:0005769early endosome IDA--
    GO:0005770late endosome IDA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane ----

    Find genes that share ontologies with KCNQ1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KCNQ1 About   (see all 14)  
    See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Potassium transporters outward current0.41
    Voltage gated Potassium channels0.43
    2Transmission across Chemical Synapses
    Neuronal System0.68
    3Insulin receptor recycling
    Vibrio cholerae infection0.40
    4Circadian entrainment
    Cholinergic synapse0.37
    5Salivary secretion
    Gastric acid secretion0.34


    Find genes that share SuperPaths with KCNQ1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KCNQ1
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for KCNQ1
        CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)

    2 BioSystems Pathways for KCNQ1
        SIDS Susceptibility Pathways
    TNF-alpha/NF-kB Signaling Pathway


    1 Reactome Pathway for KCNQ1
        Voltage gated Potassium channels

    2 PharmGKB Pathways for KCNQ1
        Antiarrhythmic Pathway, Pharmacodynamics
    Celecoxib Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for KCNQ1) (see all 6):
        Adrenergic signaling in cardiomyocytes
    Cholinergic synapse
    Gastric acid secretion
    Pancreatic secretion
    Protein digestion and absorption

        Pathway & Disease-focused RT2 Profiler PCR Array including KCNQ1: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for KCNQ1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KCNQ1 (P517871, 2, 3 ENSP000001558404) via UniProtKB, MINT, STRING, and/or I2D (see all 63)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRAF6Q9Y4K32, 3MINT-47934 MINT-49606 I2D: score=6 
    KCNE1P153821, 2, 3, ENSP000003372554EBI-359667,EBI-7043557 MINT-7297878 MINT-7297906 MINT-7297829 MINT-7297854 MINT-7297812 I2D: score=3 STRING: ENSP00000337255
    AKAP9Q999963, ENSP000003485734I2D: score=2 STRING: ENSP00000348573
    KCNE2Q9Y6J63, ENSP000002903104I2D: score=2 STRING: ENSP00000290310
    PPP1CAP621363, ENSP000003260314I2D: score=1 STRING: ENSP00000326031
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 28):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006349regulation of gene expression by genetic imprinting IEA--
    GO:0006811ion transport ----
    GO:0006813potassium ion transport ----
    GO:0007268synaptic transmission TAS--
    GO:0007605sensory perception of sound TAS9020846

    Find genes that share ontologies with KCNQ1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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      Browse compounds at ApexBio 

    Compounds for KCNQ1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    ICA 110381KV7.2/7.3 activator; displays anticonvulsant properties[325457-99-6]
    XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-current [122955-42-4]
    JNJ 303Potent and selective IKs blocker[878489-28-2]
    E-4031 dihydrochlorideKV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr)[113559-13-0]
    ShK-Dap22Extremely potent and selective KV1.3 blocker; suppresses T cell activation in vitro[220384-25-8]

    2 HMDB Compounds for KCNQ1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    PotassiumK+ (see all 16)7440-09-7--

    2 DrugBank Compounds for KCNQ1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Bepridil-- 64706-54-3targetinhibitor14716203 9765513 10860024
    IndapamideIndapamida [INN-Spanish] (see all 2)26807-65-8targetinhibitor11351021 11804849 11752352

    Selected IUPHAR Ligands for KCNQ1 (Kv7.1) (see all 11)    About this table
    LigandTypeActionAffinityPubmed IDs
    IKs124
    Pore BlockerNone8.115579540
    HMR-1556
    Pore BlockerAntagonist7.0816909339
    L735821
    Pore BlockerNone712815162 9397166
    XE991
    Pore BlockerAntagonist6.1110825393
    R-L3
    ActivatorNone69658209
    chromanol 293B
    Pore BlockerAntagonist5.0416909339
    zinc pyrithione
    ActivatorNone517435769
    mefenamic acid
    ActivatorNone511207363
    niflumic acid
    ActivatorPositive57969055
    linopirdine
    InhibitorNone5--

    Selected Novoseek inferred chemical compound relationships for KCNQ1 gene (see all 27)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chromanol 293b 88.4 3 9929573 (1), 16909339 (1), 11739240 (1)
    potassium 81.7 124 12710526 (3), 8528244 (3), 9570196 (2), 12879210 (2) (see all 82)
    chromanol 73.7 8 9396783 (3), 18264812 (1), 15947250 (1), 19139916 (1)
    nap-2 72 1 9268640 (1)
    clofilium 58.8 1 14729507 (1)
    sodium 41.9 19 10613047 (2), 9570196 (1), 11259355 (1), 9445165 (1) (see all 13)
    clotrimazole 39.4 1 14729507 (1)
    cromakalim 15.3 1 9396783 (1)
    86rb 14.9 2 10620287 (2)
    isoleucine 11.8 2 19056345 (1), 11802537 (1)

    1 PharmGKB related drug/compound annotation for KCNQ1 gene    About this table
    Drug/compound PharmGKB Annotation
    repaglinideCA  



    Find genes that share compounds with KCNQ1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

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    REFSEQ mRNAs for KCNQ1 gene (3 alternative transcripts): 
    NM_000218.2  NM_181798.1  NM_181797.1  

    Unigene Cluster for KCNQ1:

    Potassium voltage-gated channel, KQT-like subfamily, member 1
    Hs.95162  [show with all ESTs]
    Unigene Representative Sequence: BX640740
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000496887 ENST00000155840(uc009ydo.1 uc001lwn.3 uc001lwo.3)
    ENST00000345015 ENST00000335475(uc009ydp.1) ENST00000380776 ENST00000526095

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    SwitchGear 3'UTR luciferase reporter plasmidKCNQ1 3' UTR sequence
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    Additional mRNA sequence: 

    AF000571.1 AF003743.1 AF051426.1 AJ006344.1 AK129678.1 AK226077.1 AK290618.1 BC017074.1 
    BC113545.1 BX640740.1 EF010934.1 EF010935.1 NR_040711.2 U86146.1 

    8 DOTS entries:

    DT.311767  DT.100813998  DT.120693177  DT.100000877  DT.120693151  DT.86842863  DT.95168331  DT.100816705 

    Selected AceView cDNA sequences (see all 98):

    NM_181798 AW090819 AW006385 AW136422 BF512683 AW205864 NM_181797 BM821874 
    BF221828 AI738525 AK129678 AI868916 NM_000218 BM852160 AI344116 BM553823 
    AI347525 CR608266 C01650 AF003743 U86146 AU141948 AI769029 AW138991 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KCNQ1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCAGGAGAC
    KCNQ1 Expression
    About this image


    KCNQ1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Adrenal Gland (Endocrine System)    fully expand to see all 3 entries
             adrenal gland ; glandular cells   
             adrenal cortex   
     
     NULL (Cardiovascular System)    fully expand to see all 2 entries
             Early cardiomyocytes
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Early cardiomyocytes
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Granulosa Cells Primary Follicle
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    KCNQ1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNQ1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.95162

    UniProtKB/Swiss-Prot: KCNQ1_HUMAN, P51787
    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

        Pathway & Disease-focused RT2 Profiler PCR Array including KCNQ1: 
              Neuronal Ion Channels in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for KCNQ1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnq11 , 5 potassium voltage-gated channel, subfamily Q, member more1, 5 84.31(n)1
    88.54(a)1
      7 (88.12 cM)5
    165351  NM_008434.21  NP_032460.21 
     1431072545 
    chicken
    (Gallus gallus)
    Aves KCNQ11 potassium voltage-gated channel, KQT-like subfamily, more 72.29(n)
    80.85(a)
      423090  XM_421022.4  XP_421022.3 
    lizard
    (Anolis carolinensis)
    Reptilia KCNQ16
    potassium voltage-gated channel, KQT-like subfamil...
    73(a)
    1 ↔ 1
    1(68987306-69393295)
    African clawed frog
    (Xenopus laevis)
    Amphibia kcnq1-A2 potassium voltage-gated channel, KQT-like subfamily, more 78.14(n)    U71076.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kcnq11 potassium voltage-gated channel, KQT-like subfamily, more 65.65(n)
    70.02(a)
      557498  NM_001123242.2  NP_001116714.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta KCNQ6
    KCNQ potassium channel
    24(a)
    1 ↔ 1
    2R(6033402-6079899)
    worm
    (Caenorhabditis elegans)
    Secernentea kqt-31 , 3 Ion transport proteins3
    kqt-31
    50(a)
    (best of 3)3
    58.82(n)1
    60.48(a)1
      II(13708393-13712637)3
    1916991  NM_001267475.11  NP_001254404.11 


    ENSEMBL Gene Tree for KCNQ1 (if available)
    TreeFam Gene Tree for KCNQ1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNQ1 gene
    KCNQ32  KCNQ22  KCNQ52  KCNQ42  
    5 SIMAP similar genes for KCNQ1 using alignment to 6 protein entries:     KCNQ1_HUMAN (see all proteins):
    KVLQT1-Iso5    KCNQ5    KCNQ4    KCNQ3    KCNQ2

    Find genes that share paralogs with KCNQ1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KCNQ1 (see all 9500)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1794891,2,,4
    C,FLong QT syndrome 1 (LQT1)4 untested12525497(-) CGTCCC/G/TGAAGA 5 R G mis1 ese35MN NA EA 528
    rs127204591,2,,4
    C,F,HLong QT syndrome 1 (LQT1)4 pathogenic12538380(+) CTTTGA/C/G/
            
    GCTCC
    7 E A G V mis1 ese38NS EA 1324
    rs127204581,2,,4
    C,HLong QT syndrome 1 (LQT1)4 untested12540110(+) GCAGAA/GGCACT 3 K R mis15Minor allele frequency- G:0.00NS EA 682
    rs127204491,2,,4
    CLong QT syndrome 1 (LQT1)4 untested12543650(+) CCCCCC/G/TAGAAG 5 P R L mis1 ese33EA EU 2051
    rs172218541,2,,4
    CLong QT syndrome 1 (LQT1)4 pathogenic12732794(+) AGGATC/TGCGGC 3 R C mis1 ese31Minor allele frequency- T:0.00--640
    VAR_0089514
    Long QT syndrome 1 (LQT1)4--see VAR_0089512 T M mis40--------
    VAR_0682904
    Long QT syndrome 1 (LQT1)4--see VAR_0682902 V I mis40--------
    VAR_0683054
    Long QT syndrome 1 (LQT1)4--see VAR_0683052 G D mis40--------
    VAR_0015284
    Long QT syndrome 1 (LQT1)4--see VAR_0015282 G R mis40--------
    VAR_0683124
    Long QT syndrome 1 (LQT1)4--see VAR_0683122 R S mis40--------

    HapMap Linkage Disequilibrium report for KCNQ1 (2465914 - 2715914 bp, first 250kb of KCNQ1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KCNQ1 (see all 46):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv991030CNV Deletion20482838
    esv2744009CNV Deletion23290073
    esv2664758CNV Deletion23128226
    esv2744010CNV Deletion23290073
    esv2744011CNV Deletion23290073
    esv2744012CNV Deletion23290073
    nsv509383CNV Insertion20534489
    nsv7647CNV Insertion18451855
    esv1004234CNV Insertion20482838
    dgv1004n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): KCNQ1
    Locus Specific Mutation Databases (LSDB): KCNQ1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNQ1
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNQ1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607542   
    OMIM disorders: 192500  220400  607554  609621  
    UniProtKB/Swiss-Prot: KCNQ1_HUMAN, P51787
  • 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. 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. 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.
    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. 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. Note=Disease susceptibility is associated with variations affecting the gene
    represented in this entry

  • 13 diseases for KCNQ1:    
    About MalaCards
    short qt syndrome    familial atrial fibrillation    long qt syndrome 1    long qt syndrome 1, acquired
    atrial fibrillation, familial, 3    kcnq1-related familial atrial fibrillation    short qt syndrome 2    jervell-lange nielsen syndrome
    long qt syndrome    secretory diarrhea    beckwith-wiedemann syndrome    atrial fibrillation, familial, 9
    atrioventricular block

    5 diseases from the University of Copenhagen DISEASES database for KCNQ1:
    Long QT syndrome     Beckwith-Wiedemann syndrome     Congenital heart block     Sudden infant death syndrome
    Heart disease

    Find genes that share disorders with KCNQ1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for KCNQ1 gene (see all 26)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    long qt syndrome 96.3 115 17091796 (3), 15935335 (3), 11289718 (2), 12653681 (2) (see all 85)
    romano-ward syndrome 94.7 19 9641694 (1), 10737999 (1), 16929947 (1), 16981927 (1) (see all 17)
    atrial fibrillation, familial 91 3 17467630 (1), 15947250 (1), 12522251 (1)
    death sudden 83.9 19 11289718 (1), 19540844 (1), 9476573 (1), 15746441 (1) (see all 16)
    torsades de pointes 83.8 3 18808722 (1), 10077519 (1), 14769199 (1)
    beckwith-wiedemann syndrome 79.6 4 10393948 (1), 10197590 (1), 10220444 (1), 11120752 (1)
    arrhythmia 75.8 39 8528244 (3), 17360457 (2), 18192214 (1), 18426444 (1) (see all 29)
    congenital deafness 73.3 4 10737999 (1), 16929947 (1), 9302275 (1), 11120752 (1)
    ventricular tachyarrhythmia 72 1 8528244 (1)
    death sudden cardiac 70.6 3 16436635 (1), 16132053 (1), 17905336 (1)

    GeneTests: KCNQ1
    GeneReviews: KCNQ1
    Genetic Association Database (GAD): KCNQ1
    Human Genome Epidemiology (HuGE) Navigator: KCNQ1 (129 documents)

    Export disorders for KCNQ1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KCNQ1 gene, integrated from 10 sources (see all 609):
    (articles sorted by number of sources associating them with KCNQ1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. (PubMed id 8528244)1, 2, 3, 9 Wang Q.... Keating M.T. (Nat. Genet. 1996)
    2. SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations. (PubMed id 18711366)1, 2, 4, 9 Unoki H....Maeda S. (Nat. Genet. 2008)
    3. Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus. (PubMed id 18711367)1, 2, 4 Yasuda K....Kasuga M. (Nat. Genet. 2008)
    4. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. (PubMed id 15840476)1, 2, 4 Tester D.J.... Ackerman M.J. (Heart Rhythm 2005)
    5. New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. (PubMed id 9570196)1, 2, 9 Li H.... Towbin J.A. (Circulation 1998)
    6. Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. (PubMed id 9323054)1, 2, 9 Shalaby F.Y.... Blanar M.A. (Circulation 1997)
    7. The single nucleotide polymorphisms of I(Ks) potassium channel genes and their association with atrial fibrillation in a Chinese population. (PubMed id 17016049)1, 4, 9 Zeng Z....Pu J. (Cardiology 2007)
    8. The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene. (PubMed id 9272155)1, 2, 9 van den Berg M.H.... Geraedts J.P.M. (Hum. Genet. 1997)
    9. Suppression of slow delayed rectifier current by a truncated isoform of KvLQT1 cloned from normal human heart. (PubMed id 9305853)1, 2, 9 Jiang M.... Tseng G.-N. (J. Biol. Chem. 1997)
    10. Genetic variation in KCNQ1 associates with fasting glucose and beta-cell function: a study of 3,734 subjects comprising three ethnicities living in Singapore. (PubMed id 19252135)1, 4, 9 Tan J.T....Ng D.P. (Diabetes 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3784 HGNC: 6294 AceView: KCNQ1 Ensembl:ENSG00000053918 euGenes: HUgn3784
    ECgene: KCNQ1 Kegg: 3784 H-InvDB: KCNQ1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KCNQ1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for KCNQ1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=KCNQ1[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/KvLQT1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KCNQ1 gene:
    Search GeneIP for patents involving KCNQ1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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