Potassium voltage-gated channel subfamily KQT member 1

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• calmodulin binding Source: MGI
• delayed rectifier potassium channel activity Source: UniProtKB
• identical protein binding Source: MGI
• outward rectifier potassium channel activity Source: UniProtKB
• phosphatidylinositol-4,5-bisphosphate binding Source: UniProtKB
• potassium channel activity Source: MGI
• protein kinase A catalytic subunit binding Source: MGI
• protein kinase A regulatory subunit binding Source: MGI
• protein phosphatase 1 binding Source: MGI
• scaffold protein binding Source: MGI
• transmembrane transporter binding Source: MGI
• voltage-gated potassium channel activity Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • Ref.4

    "K(V)LQT1 and IsK (minK) proteins associate to form the I(Ks) cardiac potassium current."
    Barhanin J., Lesage F., Guillemare E., Fink M., Lazdunski M., Romey G.
    Nature 384:78-80(1996) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 31-668 (ISOFORM I), FUNCTION, INTERACTION WITH KCNE1.
• voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization Source: MGI
• voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization Source: MGI
• voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization Source: MGI

GO - Biological processⁱ

• adrenergic receptor signaling pathway Source: MGI <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • Ref.8

    "Kcnq1 contributes to an adrenergic-sensitive steady-state K+ current in mouse heart."
    Knollmann B.C., Sirenko S., Rong Q., Katchman A.N., Casimiro M., Pfeifer K., Ebert S.N.
    Biochem. Biophys. Res. Commun. 360:212-218(2007) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION.
• atrial cardiac muscle cell action potential Source: MGI
• auditory receptor cell development Source: MGIInferred from mutant phenotypeⁱ
  • "Virally mediated Kcnq1 gene replacement therapy in the immature scala media restores hearing in a mouse model of human Jervell and Lange-Nielsen deafness syndrome."
    Chang Q., Wang J., Li Q., Kim Y., Zhou B., Wang Y., Li H., Lin X.
    EMBO Mol Med 7:1077-1086(2015) [PubMed] [Europe PMC] [Abstract]
• cardiac conduction Source: MGIInferred from mutant phenotypeⁱ
  • "Functional suppression of Kcnq1 leads to early sodium channel remodelling and cardiac conduction system dysmorphogenesis."
    de la Rosa A.J., Dominguez J.N., Sedmera D., Sankova B., Hove-Madsen L., Franco D., Aranega A.E.
    Cardiovasc Res 98:504-514(2013) [PubMed] [Europe PMC] [Abstract]
• cardiac muscle contraction Source: MGIInferred from mutant phenotypeⁱ
  • "Phenotypic analysis of vertigo 2 Jackson mice with a Kcnq1 potassium channel mutation."
    Takagi T., Nishio H., Yagi T., Kuwahara M., Tsubone H., Tanigawa N., Suzuki K.
    Exp Anim 56:295-300(2007) [PubMed] [Europe PMC] [Abstract]
• cellular chloride ion homeostasis Source: MGIInferred from direct assayⁱ
  • "The small conductance K+ channel, KCNQ1: expression, function, and subunit composition in murine trachea."
    Grahammer F., Warth R., Barhanin J., Bleich M., Hug M.J.
    J Biol Chem 276:42268-42275(2001) [PubMed] [Europe PMC] [Abstract]
• cellular response to cAMP Source: MGI
• cellular response to epinephrine stimulus Source: MGIInferred from mutant phenotypeⁱ
  • Ref.8

    "Kcnq1 contributes to an adrenergic-sensitive steady-state K+ current in mouse heart."
    Knollmann B.C., Sirenko S., Rong Q., Katchman A.N., Casimiro M., Pfeifer K., Ebert S.N.
    Biochem. Biophys. Res. Commun. 360:212-218(2007) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION.
• cellular response to xenobiotic stimulus Source: MGI
• chloride ion homeostasis Source: MGIInferred from mutant phenotypeⁱ
  • Ref.7

    "KCNQ1-dependent transport in renal and gastrointestinal epithelia."
    Vallon V., Grahammer F., Volkl H., Sandu C.D., Richter K., Rexhepaj R., Gerlach U., Rong Q., Pfeifer K., Lang F.
    Proc. Natl. Acad. Sci. U.S.A. 102:17864-17869(2005) [PubMed] [Europe PMC] [Abstract]

    Cited for: DISRUPTION PHENOTYPE, FUNCTION.
• circulatory system development Source: MGIInferred from mutant phenotypeⁱ
  • Ref.1

    "Isoproterenol exacerbates a long QT phenotype in Kcnq1-deficient neonatal mice: possible roles for human-like Kcnq1 isoform 1 and slow delayed rectifier K+ current."
    Knollmann B.C., Casimiro M.C., Katchman A.N., Sirenko S.G., Schober T., Rong Q., Pfeifer K., Ebert S.N.
    J. Pharmacol. Exp. Ther. 310:311-318(2004) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM I), FUNCTION, DISRUPTION PHENOTYPE.
• cochlea development Source: MGIInferred from mutant phenotypeⁱ
  • "Inner ear abnormalities in a Kcnq1 (Kvlqt1) knockout mouse: a model of Jervell and Lange-Nielsen syndrome."
    Rivas A., Francis H.W.
    Otol Neurotol 26:415-424(2005) [PubMed] [Europe PMC] [Abstract]
• corticosterone secretion Source: MGIInferred from mutant phenotypeⁱ
  • "Phenotypic analysis of vertigo 2 Jackson mice with a Kcnq1 potassium channel mutation."
    Takagi T., Nishio H., Yagi T., Kuwahara M., Tsubone H., Tanigawa N., Suzuki K.
    Exp Anim 56:295-300(2007) [PubMed] [Europe PMC] [Abstract]
• detection of mechanical stimulus involved in sensory perception of sound Source: MGIInferred from mutant phenotypeⁱ
  • "Inner ear abnormalities in a Kcnq1 (Kvlqt1) knockout mouse: a model of Jervell and Lange-Nielsen syndrome."
    Rivas A., Francis H.W.
    Otol Neurotol 26:415-424(2005) [PubMed] [Europe PMC] [Abstract]
• erythrocyte differentiation Source: MGIInferred from mutant phenotypeⁱ
  • Ref.7

    "KCNQ1-dependent transport in renal and gastrointestinal epithelia."
    Vallon V., Grahammer F., Volkl H., Sandu C.D., Richter K., Rexhepaj R., Gerlach U., Rong Q., Pfeifer K., Lang F.
    Proc. Natl. Acad. Sci. U.S.A. 102:17864-17869(2005) [PubMed] [Europe PMC] [Abstract]

    Cited for: DISRUPTION PHENOTYPE, FUNCTION.
• gastric acid secretion Source: MGIInferred from mutant phenotypeⁱ
  • "Heightened susceptibility to chronic gastritis, hyperplasia and metaplasia in Kcnq1 mutant mice."
    Elso C.M., Lu X., Culiat C.T., Rutledge J.C., Cacheiro N.L., Generoso W.M., Stubbs L.J.
    Hum Mol Genet 13:2813-2821(2004) [PubMed] [Europe PMC] [Abstract]
  • Ref.7

    "KCNQ1-dependent transport in renal and gastrointestinal epithelia."
    Vallon V., Grahammer F., Volkl H., Sandu C.D., Richter K., Rexhepaj R., Gerlach U., Rong Q., Pfeifer K., Lang F.
    Proc. Natl. Acad. Sci. U.S.A. 102:17864-17869(2005) [PubMed] [Europe PMC] [Abstract]

    Cited for: DISRUPTION PHENOTYPE, FUNCTION.
  • Ref.9

    "KCNQ1 is the luminal K+ recycling channel during stimulation of gastric acid secretion."
    Song P., Groos S., Riederer B., Feng Z., Krabbenhoeft A., Smolka A., Seidler U.
    J. Physiol. (Lond.) 587:3955-3965(2009) [PubMed] [Europe PMC] [Abstract]

    Cited for: DISRUPTION PHENOTYPE, FUNCTION.
• gastrin-induced gastric acid secretion Source: MGIInferred from mutant phenotypeⁱ
  • "Phenotypic analysis of vertigo 2 Jackson mice with a Kcnq1 potassium channel mutation."
    Takagi T., Nishio H., Yagi T., Kuwahara M., Tsubone H., Tanigawa N., Suzuki K.
    Exp Anim 56:295-300(2007) [PubMed] [Europe PMC] [Abstract]
• gene expression Source: MGIInferred from mutant phenotypeⁱ
  • "Heightened susceptibility to chronic gastritis, hyperplasia and metaplasia in Kcnq1 mutant mice."
    Elso C.M., Lu X., Culiat C.T., Rutledge J.C., Cacheiro N.L., Generoso W.M., Stubbs L.J.
    Hum Mol Genet 13:2813-2821(2004) [PubMed] [Europe PMC] [Abstract]
  • "Phenotypic analysis of vertigo 2 Jackson mice with a Kcnq1 potassium channel mutation."
    Takagi T., Nishio H., Yagi T., Kuwahara M., Tsubone H., Tanigawa N., Suzuki K.
    Exp Anim 56:295-300(2007) [PubMed] [Europe PMC] [Abstract]
  • "The role of KCNQ1 in mouse and human gastrointestinal cancers."
    Than B.L., Goos J.A., Sarver A.L., O'Sullivan M.G., Rod A., Starr T.K., Fijneman R.J., Meijer G.A., Zhao L., Zhang Y., Largaespada D.A., Scott P.M., Cormier R.T.
    Oncogene 33:3861-3868(2014) [PubMed] [Europe PMC] [Abstract]
• glucose metabolic process Source: MGIInferred from mutant phenotypeⁱ
  • "Enhanced insulin sensitivity of gene-targeted mice lacking functional KCNQ1."
    Boini K.M., Graf D., Hennige A.M., Koka S., Kempe D.S., Wang K., Ackermann T.F., Foller M., Vallon V., Pfeifer K., Schleicher E., Ullrich S., Haring H.U., Haussinger D., Lang F.
    Am J Physiol Regul Integr Comp Physiol 296:R1695-701(2009) [PubMed] [Europe PMC] [Abstract]
• heart development Source: MGIInferred from mutant phenotypeⁱ
  • "Targeted point mutagenesis of mouse Kcnq1: phenotypic analysis of mice with point mutations that cause Romano-Ward syndrome in humans."
    Casimiro M.C., Knollmann B.C., Yamoah E.N., Nie L., Vary J.C. Jr., Sirenko S.G., Greene A.E., Grinberg A., Huang S.P., Ebert S.N., Pfeifer K.
    Genomics 84:555-564(2004) [PubMed] [Europe PMC] [Abstract]
• inner ear development Source: UniProtKBInferred from mutant phenotypeⁱ
  • Ref.6

    "Targeted disruption of the Kvlqt1 gene causes deafness and gastric hyperplasia in mice."
    Lee M.P., Ravenel J.D., Hu R.J., Lustig L.R., Tomaselli G., Berger R.D., Brandenburg S.A., Litzi T.J., Bunton T.E., Limb C., Francis H., Gorelikow M., Gu H., Washington K., Argani P., Goldenring J.R., Coffey R.J., Feinberg A.P.
    J. Clin. Invest. 106:1447-1455(2000) [PubMed] [Europe PMC] [Abstract]

    Cited for: DISRUPTION PHENOTYPE, FUNCTION.
• inner ear morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome."
    Casimiro M.C., Knollmann B.C., Ebert S.N., Vary J.C. Jr., Greene A.E., Franz M.R., Grinberg A., Huang S.P., Pfeifer K.
    Proc Natl Acad Sci U S A 98:2526-2531(2001) [PubMed] [Europe PMC] [Abstract]
• intestinal absorption Source: UniProtKB
• iodide transport Source: MGIInferred from mutant phenotypeⁱ
  • "The KCNQ1-KCNE2 K⁺ channel is required for adequate thyroid I⁻ uptake."
    Purtell K., Paroder-Belenitsky M., Reyna-Neyra A., Nicola J.P., Koba W., Fine E., Carrasco N., Abbott G.W.
    FASEB J 26:3252-3259(2012) [PubMed] [Europe PMC] [Abstract]
• membrane repolarization Source: UniProtKBInferred from mutant phenotypeⁱ
  • Ref.7

    "KCNQ1-dependent transport in renal and gastrointestinal epithelia."
    Vallon V., Grahammer F., Volkl H., Sandu C.D., Richter K., Rexhepaj R., Gerlach U., Rong Q., Pfeifer K., Lang F.
    Proc. Natl. Acad. Sci. U.S.A. 102:17864-17869(2005) [PubMed] [Europe PMC] [Abstract]

    Cited for: DISRUPTION PHENOTYPE, FUNCTION.
• membrane repolarization during action potential Source: MGIInferred from direct assayⁱ
  • "Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death."
    Goldman A.M., Glasscock E., Yoo J., Chen T.T., Klassen T.L., Noebels J.L.
    Sci Transl Med 1:2ra6-2ra6(2009) [PubMed] [Europe PMC] [Abstract]
• membrane repolarization during atrial cardiac muscle cell action potential Source: MGI
• membrane repolarization during cardiac muscle cell action potential Source: MGI
• membrane repolarization during ventricular cardiac muscle cell action potential Source: MGI
• negative regulation of delayed rectifier potassium channel activity Source: MGI
• negative regulation of gene expression Source: MGIInferred from mutant phenotypeⁱ
  • "An antisense RNA regulates the bidirectional silencing property of the Kcnq1 imprinting control region."
    Thakur N., Tiwari V.K., Thomassin H., Pandey R.R., Kanduri M., Gondor A., Grange T., Ohlsson R., Kanduri C.
    Mol Cell Biol 24:7855-7862(2004) [PubMed] [Europe PMC] [Abstract]
• negative regulation of insulin secretion Source: MGI
• negative regulation of voltage-gated potassium channel activity Source: MGI
• neuromuscular process Source: MGIInferred from direct assayⁱ
  • "Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death."
    Goldman A.M., Glasscock E., Yoo J., Chen T.T., Klassen T.L., Noebels J.L.
    Sci Transl Med 1:2ra6-2ra6(2009) [PubMed] [Europe PMC] [Abstract]
• non-motile cilium assembly Source: MGIInferred from direct assayⁱ
  • "Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis."
    Slaats G.G., Wheway G., Foletto V., Szymanska K., van Balkom B.W., Logister I., Den Ouden K., Keijzer-Veen M.G., Lilien M.R., Knoers N.V., Johnson C.A., Giles R.H.
    J Cell Sci 128:4550-4559(2015) [PubMed] [Europe PMC] [Abstract]
• positive regulation of cardiac muscle contraction Source: MGI
• positive regulation of gastric acid secretion Source: MGI
• positive regulation of heart rate Source: MGI
• positive regulation of potassium ion transmembrane transport Source: MGI
• potassium ion export across plasma membrane Source: MGI
• potassium ion homeostasis Source: MGIInferred from mutant phenotypeⁱ
  • Ref.7

    "KCNQ1-dependent transport in renal and gastrointestinal epithelia."
    Vallon V., Grahammer F., Volkl H., Sandu C.D., Richter K., Rexhepaj R., Gerlach U., Rong Q., Pfeifer K., Lang F.
    Proc. Natl. Acad. Sci. U.S.A. 102:17864-17869(2005) [PubMed] [Europe PMC] [Abstract]

    Cited for: DISRUPTION PHENOTYPE, FUNCTION.
• potassium ion import across plasma membrane Source: MGIInferred from mutant phenotypeⁱ
  • "Enhanced insulin sensitivity of gene-targeted mice lacking functional KCNQ1."
    Boini K.M., Graf D., Hennige A.M., Koka S., Kempe D.S., Wang K., Ackermann T.F., Foller M., Vallon V., Pfeifer K., Schleicher E., Ullrich S., Haring H.U., Haussinger D., Lang F.
    Am J Physiol Regul Integr Comp Physiol 296:R1695-701(2009) [PubMed] [Europe PMC] [Abstract]
• potassium ion transmembrane transport Source: MGIInferred from direct assayⁱ
  • "The small conductance K+ channel, KCNQ1: expression, function, and subunit composition in murine trachea."
    Grahammer F., Warth R., Barhanin J., Bleich M., Hug M.J.
    J Biol Chem 276:42268-42275(2001) [PubMed] [Europe PMC] [Abstract]
• potassium ion transport Source: MGI
• regulation of atrial cardiac muscle cell membrane repolarization Source: MGI
• regulation of blood pressure Source: MGIInferred from mutant phenotypeⁱ
  • "Phenotypic analysis of vertigo 2 Jackson mice with a Kcnq1 potassium channel mutation."
    Takagi T., Nishio H., Yagi T., Kuwahara M., Tsubone H., Tanigawa N., Suzuki K.
    Exp Anim 56:295-300(2007) [PubMed] [Europe PMC] [Abstract]
• regulation of gastric acid secretion Source: UniProtKBInferred from mutant phenotypeⁱ
  • Ref.7

    "KCNQ1-dependent transport in renal and gastrointestinal epithelia."
    Vallon V., Grahammer F., Volkl H., Sandu C.D., Richter K., Rexhepaj R., Gerlach U., Rong Q., Pfeifer K., Lang F.
    Proc. Natl. Acad. Sci. U.S.A. 102:17864-17869(2005) [PubMed] [Europe PMC] [Abstract]

    Cited for: DISRUPTION PHENOTYPE, FUNCTION.
  • Ref.9

    "KCNQ1 is the luminal K+ recycling channel during stimulation of gastric acid secretion."
    Song P., Groos S., Riederer B., Feng Z., Krabbenhoeft A., Smolka A., Seidler U.
    J. Physiol. (Lond.) 587:3955-3965(2009) [PubMed] [Europe PMC] [Abstract]

    Cited for: DISRUPTION PHENOTYPE, FUNCTION.
• regulation of gene expression by genomic imprinting Source: MGIInferred from mutant phenotypeⁱ
  • "Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1."
    Fitzpatrick G.V., Soloway P.D., Higgins M.J.
    Nat Genet 32:426-431(2002) [PubMed] [Europe PMC] [Abstract]
  • "An antisense RNA regulates the bidirectional silencing property of the Kcnq1 imprinting control region."
    Thakur N., Tiwari V.K., Thomassin H., Pandey R.R., Kanduri M., Gondor A., Grange T., Ohlsson R., Kanduri C.
    Mol Cell Biol 24:7855-7862(2004) [PubMed] [Europe PMC] [Abstract]
• regulation of heart rate Source: MGIInferred from mutant phenotypeⁱ
  • "Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death."
    Goldman A.M., Glasscock E., Yoo J., Chen T.T., Klassen T.L., Noebels J.L.
    Sci Transl Med 1:2ra6-2ra6(2009) [PubMed] [Europe PMC] [Abstract]
• regulation of heart rate by cardiac conduction Source: MGI
• regulation of membrane potential Source: MGI
• regulation of membrane repolarization Source: MGI
• regulation of transporter activity Source: MGIInferred from mutant phenotypeⁱ
  • "KCNQ1, KCNE2, and Na+-coupled solute transporters form reciprocally regulating complexes that affect neuronal excitability."
    Abbott G.W., Tai K.K., Neverisky D.L., Hansler A., Hu Z., Roepke T.K., Lerner D.J., Chen Q., Liu L., Zupan B., Toth M., Haynes R., Huang X., Demirbas D., Buccafusca R., Gross S.S., Kanda V.A., Berry G.T.
    Sci Signal 7:ra22-ra22(2014) [PubMed] [Europe PMC] [Abstract]
• regulation of ventricular cardiac muscle cell membrane repolarization Source: MGIInferred from mutant phenotypeⁱ
  • "Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome."
    Casimiro M.C., Knollmann B.C., Ebert S.N., Vary J.C. Jr., Greene A.E., Franz M.R., Grinberg A., Huang S.P., Pfeifer K.
    Proc Natl Acad Sci U S A 98:2526-2531(2001) [PubMed] [Europe PMC] [Abstract]
• regulation of voltage-gated sodium channel activity Source: MGIInferred from mutant phenotypeⁱ
  • "Functional suppression of Kcnq1 leads to early sodium channel remodelling and cardiac conduction system dysmorphogenesis."
    de la Rosa A.J., Dominguez J.N., Sedmera D., Sankova B., Hove-Madsen L., Franco D., Aranega A.E.
    Cardiovasc Res 98:504-514(2013) [PubMed] [Europe PMC] [Abstract]
• renal absorption Source: UniProtKBInferred from mutant phenotypeⁱ
  • Ref.7

    "KCNQ1-dependent transport in renal and gastrointestinal epithelia."
    Vallon V., Grahammer F., Volkl H., Sandu C.D., Richter K., Rexhepaj R., Gerlach U., Rong Q., Pfeifer K., Lang F.
    Proc. Natl. Acad. Sci. U.S.A. 102:17864-17869(2005) [PubMed] [Europe PMC] [Abstract]

    Cited for: DISRUPTION PHENOTYPE, FUNCTION.
• renal sodium ion absorption Source: MGIInferred from mutant phenotypeⁱ
  • Ref.7

    "KCNQ1-dependent transport in renal and gastrointestinal epithelia."
    Vallon V., Grahammer F., Volkl H., Sandu C.D., Richter K., Rexhepaj R., Gerlach U., Rong Q., Pfeifer K., Lang F.
    Proc. Natl. Acad. Sci. U.S.A. 102:17864-17869(2005) [PubMed] [Europe PMC] [Abstract]

    Cited for: DISRUPTION PHENOTYPE, FUNCTION.
• response to anesthetic Source: MGI
• response to epinephrine Source: MGIInferred from mutant phenotypeⁱ
  • "Nicotine induces a long QT phenotype in Kcnq1-deficient mouse hearts."
    Tosaka T., Casimiro M.C., Rong Q., Tella S., Oh M., Katchman A.N., Pezzullo J.C., Pfeifer K., Ebert S.N.
    J Pharmacol Exp Ther 306:980-987(2003) [PubMed] [Europe PMC] [Abstract]
  • Ref.1

    "Isoproterenol exacerbates a long QT phenotype in Kcnq1-deficient neonatal mice: possible roles for human-like Kcnq1 isoform 1 and slow delayed rectifier K+ current."
    Knollmann B.C., Casimiro M.C., Katchman A.N., Sirenko S.G., Schober T., Rong Q., Pfeifer K., Ebert S.N.
    J. Pharmacol. Exp. Ther. 310:311-318(2004) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM I), FUNCTION, DISRUPTION PHENOTYPE.
• response to insulin Source: MGIInferred from mutant phenotypeⁱ
  • "Enhanced insulin sensitivity of gene-targeted mice lacking functional KCNQ1."
    Boini K.M., Graf D., Hennige A.M., Koka S., Kempe D.S., Wang K., Ackermann T.F., Foller M., Vallon V., Pfeifer K., Schleicher E., Ullrich S., Haring H.U., Haussinger D., Lang F.
    Am J Physiol Regul Integr Comp Physiol 296:R1695-701(2009) [PubMed] [Europe PMC] [Abstract]
• response to nicotine Source: MGIInferred from mutant phenotypeⁱ
  • "Nicotine induces a long QT phenotype in Kcnq1-deficient mouse hearts."
    Tosaka T., Casimiro M.C., Rong Q., Tella S., Oh M., Katchman A.N., Pezzullo J.C., Pfeifer K., Ebert S.N.
    J Pharmacol Exp Ther 306:980-987(2003) [PubMed] [Europe PMC] [Abstract]
• rhythmic behavior Source: MGIInferred from mutant phenotypeⁱ
  • "Inner ear abnormalities in a Kcnq1 (Kvlqt1) knockout mouse: a model of Jervell and Lange-Nielsen syndrome."
    Rivas A., Francis H.W.
    Otol Neurotol 26:415-424(2005) [PubMed] [Europe PMC] [Abstract]
• sensory perception of sound Source: MGIInferred from mutant phenotypeⁱ
  • "Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome."
    Casimiro M.C., Knollmann B.C., Ebert S.N., Vary J.C. Jr., Greene A.E., Franz M.R., Grinberg A., Huang S.P., Pfeifer K.
    Proc Natl Acad Sci U S A 98:2526-2531(2001) [PubMed] [Europe PMC] [Abstract]
  • "Targeted point mutagenesis of mouse Kcnq1: phenotypic analysis of mice with point mutations that cause Romano-Ward syndrome in humans."
    Casimiro M.C., Knollmann B.C., Yamoah E.N., Nie L., Vary J.C. Jr., Sirenko S.G., Greene A.E., Grinberg A., Huang S.P., Ebert S.N., Pfeifer K.
    Genomics 84:555-564(2004) [PubMed] [Europe PMC] [Abstract]
  • "Virally mediated Kcnq1 gene replacement therapy in the immature scala media restores hearing in a mouse model of human Jervell and Lange-Nielsen deafness syndrome."
    Chang Q., Wang J., Li Q., Kim Y., Zhou B., Wang Y., Li H., Lin X.
    EMBO Mol Med 7:1077-1086(2015) [PubMed] [Europe PMC] [Abstract]
• social behavior Source: MGIInferred from mutant phenotypeⁱ
  • "Targeted point mutagenesis of mouse Kcnq1: phenotypic analysis of mice with point mutations that cause Romano-Ward syndrome in humans."
    Casimiro M.C., Knollmann B.C., Yamoah E.N., Nie L., Vary J.C. Jr., Sirenko S.G., Greene A.E., Grinberg A., Huang S.P., Ebert S.N., Pfeifer K.
    Genomics 84:555-564(2004) [PubMed] [Europe PMC] [Abstract]
• sodium ion transport Source: MGIInferred from direct assayⁱ
  • "The small conductance K+ channel, KCNQ1: expression, function, and subunit composition in murine trachea."
    Grahammer F., Warth R., Barhanin J., Bleich M., Hug M.J.
    J Biol Chem 276:42268-42275(2001) [PubMed] [Europe PMC] [Abstract]
• stomach development Source: MGIInferred from mutant phenotypeⁱ
  • "Heightened susceptibility to chronic gastritis, hyperplasia and metaplasia in Kcnq1 mutant mice."
    Elso C.M., Lu X., Culiat C.T., Rutledge J.C., Cacheiro N.L., Generoso W.M., Stubbs L.J.
    Hum Mol Genet 13:2813-2821(2004) [PubMed] [Europe PMC] [Abstract]
• ventricular cardiac muscle cell action potential Source: MGI

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsⁱ

Enzyme and pathway databases

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

• UniProt annotation
• GO - Cellular component

Topology

Keywords - Cellular componentⁱ

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

<p>This subsection of the 'Pathology and Biotech' section describes the in vivo effects caused by ablation of the gene (or one or more transcripts) coding for the protein described in the entry. This includes gene knockout and knockdown, provided experiments have been performed in the context of a whole organism or a specific tissue, and not at the single-cell level.<p><a href='/help/disruption_phenotype' target='_top'>More...</a></p>Disruption phenotypeⁱ

Chemistry databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Amino acid modifications

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationⁱ

Keywords - PTMⁱ

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressionⁱ

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityⁱ

Gene expression databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactionⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

GO - Molecular functionⁱ

• calmodulin binding Source: MGI
• identical protein binding Source: MGI
• protein kinase A catalytic subunit binding Source: MGI
• protein kinase A regulatory subunit binding Source: MGI
• protein phosphatase 1 binding Source: MGI
• scaffold protein binding Source: MGI
• transmembrane transporter binding Source: MGI

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structureⁱ

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

Region

Coiled coil

Motif

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domainⁱ

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)ⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

        10         20         30         40         50
MDTASSPPSA ERKRAGWSRL LGARRGSAVV KKCPFSLELA EGGPEGSTVY 
        60         70         80         90        100
APIAPTGAPG LAPPMSTPVS PAPAPADLGP RPRVSLDPRV SIYSARRPLL 
       110        120        130        140        150
ARTHIQGRVY NFLERPTGWK CFVYHFTVFL IVLVCLIFSV LSTIEQYAAL 
       160        170        180        190        200
ATGTLFWMEI VLVVFFGTEY VVRLWSAGCR SKYVGIWGRL RFARKPISII 
       210        220        230        240        250
DLIVVVASMV VLCVGSKGQV FATSAIRGIR FLQILRMLHV DRQGGTWRLL 
       260        270        280        290        300
GSVVFIHRQE LITTLYIGFL GLIFSSYFVY LAEKDAVNES GRIEFGSYAD 
       310        320        330        340        350
ALWWGVVTVT TIGYGDKVPQ TWVGKTIASC FSVFAISFFA LPAGILGSGF 
       360        370        380        390        400
ALKVQQKQRQ KHFNRQIPAA ASLIQTAWRC YAAENPDSAT WKIYVRKPAR 
       410        420        430        440        450
SHTLLSPSPK PKKSVMVKKK KFKLDKDNGM SPGEKMFNVP HITYDPPEDR 
       460        470        480        490        500
RPDHFSIDGY DSSVRKSPTL LEVSTPHFLR TNSFAEDLDL EGETLLTPIT 
       510        520        530        540        550
HVSQLRDHHR ATIKVIRRMQ YFVAKKKFQQ ARKPYDVRDV IEQYSQGHLN 
       560        570        580        590        600
LMVRIKELQR RLDQSIGKPS LFIPISEKSK DRGSNTIGAR LNRVEDKVTQ 
       610        620        630        640        650
LDQRLVIITD MLHQLLSMQQ GGPTCNSRSQ VVASNEGGSI NPELFLPSNS 
       660 
LPTYEQLTVP QTGPDEGS                                    

        10         20         30         40         50
MHQLPTSILI PKNMPGGFLI VLVCLIFSVL STIEQYAALA TGTLFWMEIV 
        60         70         80         90        100
LVVFFGTEYV VRLWSAGCRS KYVGIWGRLR FARKPISIID LIVVVASMVV 
       110        120        130        140        150
LCVGSKGQVF ATSAIRGIRF LQILRMLHVD RQGGTWRLLG SVVFIHRQEL 
       160        170        180        190        200
ITTLYIGFLG LIFSSYFVYL AEKDAVNESG RIEFGSYADA LWWGVVTVTT 
       210        220        230        240        250
IGYGDKVPQT WVGKTIASCF SVFAISFFAL PAGILGSGFA LKVQQKQRQK 
       260        270        280        290        300
HFNRQIPAAA SLIQTAWRCY AAENPDSATW KIYVRKPARS HTLLSPSPKP 
       310        320        330        340        350
KKSVMVKKKK FKLDKDNGMS PGEKMFNVPH ITYDPPEDRR PDHFSIDGYD 
       360        370        380        390        400
SSVRKSPTLL EVSTPHFLRT NSFAEDLDLE GETLLTPITH VSQLRDHHRA 
       410        420        430        440        450
TIKVIRRMQY FVAKKKFQQA RKPYDVRDVI EQYSQGHLNL MVRIKELQRR 
       460        470        480        490        500
LDQSIGKPSL FIPISEKSKD RGSNTIGARL NRVEDKVTQL DQRLVIITDM 
       510        520        530        540        550
LHQLLSMQQG GPTCNSRSQV VASNEGGSIN PELFLPSNSL PTYEQLTVPQ 

TGPDEGS                                                

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautionⁱ

Experimental Info

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityⁱ

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 100% Identity
• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

Protein family/group databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

Keywords - Technical termⁱ

Documents

1. MGD cross-references
   Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
2. SIMILARITY comments
   Index of protein domains and families