KCNQ1

Summary

Gene Symbol: KCNQ1
Description: potassium voltage-gated channel subfamily Q member 1
Alias: ATFB1, ATFB3, JLNS1, KCNA8, KCNA9, KVLQT1, Kv1.9, Kv7.1, LQT, LQT1, RWS, SQT2, WRS, potassium voltage-gated channel subfamily KQT member 1, IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1, kidney and cardiac voltage dependend K+ channel, potassium channel, voltage gated KQT-like subfamily Q, member 1, potassium voltage-gated channel, KQT-like subfamily, member 1, slow delayed rectifier channel subunit, voltage-gated potassium channel subunit Kv7.1
Species: human
Products:     KCNQ1

Top Publications

  1. Liu W, Yang J, Hu D, Kang C, Li C, Zhang S, et al. KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. Hum Mutat. 2002;20:475-6 pubmed
    ..in ion channel genes including the cardiac sodium channel gene SCN5A, and potassium channel subunit genes KCNQ1, KCNH2, KCNE1, and KCNE2. Little information is available about LQTS mutations in the Chinese population...
  2. Smith J, Vanoye C, George A, Meiler J, Sanders C. Structural models for the KCNQ1 voltage-gated potassium channel. Biochemistry. 2007;46:14141-52 pubmed
    Mutations in the human voltage-gated potassium channel KCNQ1 are associated with predisposition to deafness and various cardiac arrhythmia syndromes including congenital long QT syndrome, familial atrial fibrillation, and sudden infant ..
  3. Chen Y, Xu S, Bendahhou S, Wang X, Wang Y, Xu W, et al. KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science. 2003;299:251-4 pubmed
    ..We studied a family with hereditary persistent AF and identified the causative mutation (S140G) in the KCNQ1 (KvLQT1) gene on chromosome 11p15.5...
  4. Chan P, Osteen J, Xiong D, Bohnen M, Doshi D, Sampson K, et al. Characterization of KCNQ1 atrial fibrillation mutations reveals distinct dependence on KCNE1. J Gen Physiol. 2012;139:135-44 pubmed publisher
    The I(Ks) potassium channel, critical to control of heart electrical activity, requires assembly of ? (KCNQ1) and ? (KCNE1) subunits. Inherited mutations in either I(Ks) channel subunit are associated with cardiac arrhythmia syndromes...
  5. Zhou J, Yang J, Zhao L, Xin Z. Variants in KCNQ1, AP3S1, MAN2A1, and ALDH7A1 and the risk of type 2 diabetes in the Chinese Northern Han population: a case-control study and meta-analysis. Med Sci Monit. 2010;16:BR179-83 pubmed
    Recent studies have explored several novel type 2 diabetes (T2D) susceptibility variants in the KCNQ1 (rs2237892), AP3S1 (rs3756555), MAN2A1 (rs2015698), and ALDH7A1 (rs2306617) genes in Japan and Western Africa...
  6. Franqueza L, Lin M, Shen J, Splawski I, Keating M, Sanguinetti M. Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits. J Biol Chem. 1999;274:21063-70 pubmed
    ..is an inherited disorder of cardiac repolarization caused by mutations in cardiac ion channel genes, including KVLQT1. In this study, the functional consequences of three long QT-associated missense mutations in KvLQT1 (R243C, W248R,..
  7. Saif Ali R, Ismail I, Al Hamodi Z, Al Mekhlafi H, Siang L, Alabsi A, et al. KCNQ1 haplotypes associate with type 2 diabetes in Malaysian Chinese Subjects. Int J Mol Sci. 2011;12:5705-18 pubmed publisher
    ..nucleotide polymorphisms (SNPs) and haplotypes of potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1) with type 2 diabetes (T2D) in Malaysian Chinese subjects...
  8. Liu J, Wang F, Wu Y, Huang X, Sheng L, Xu J, et al. Meta-analysis of the effect of KCNQ1 gene polymorphism on the risk of type 2 diabetes. Mol Biol Rep. 2013;40:3557-67 pubmed publisher
    The potassium voltage-gated channel, KQT-like subfamily member 1 (KCNQ1) is a member of 11 mammalian Kv channel families that plays a key role for the repolarization of the cardiac action potential as well as water and salt transport...
  9. Crotti L, Spazzolini C, Schwartz P, Shimizu W, Denjoy I, Schulze Bahr E, et al. The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification. Circulation. 2007;116:2366-75 pubmed
    ..In a South African (SA) founder population, we identified a common LQTS type 1 (LQT1)-causing mutation (KCNQ1-A341V) associated with high clinical severity...

More Information

Publications142 found, 100 shown here

  1. Zareba W, Moss A, Sheu G, Kaufman E, Priori S, Vincent G, et al. Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. J Cardiovasc Electrophysiol. 2003;14:1149-53 pubmed
    ..The aim of this study was to determine whether there is an association between the location of mutations in the KCNQ1 gene and cardiac events in LQT1 patients...
  2. Osteen J, Gonzalez C, Sampson K, Iyer V, Rebolledo S, Larsson H, et al. KCNE1 alters the voltage sensor movements necessary to open the KCNQ1 channel gate. Proc Natl Acad Sci U S A. 2010;107:22710-5 pubmed publisher
    The delayed rectifier I(Ks) potassium channel, formed by coassembly of ?- (KCNQ1) and ?- (KCNE1) subunits, is essential for cardiac function...
  3. Lundby A, Ravn L, Svendsen J, Olesen S, Schmitt N. KCNQ1 mutation Q147R is associated with atrial fibrillation and prolonged QT interval. Heart Rhythm. 2007;4:1532-41 pubmed
    ..1 encoded by the KCNQ1 gene. The purpose of this study was functional assessment of a mutation in Kv7...
  4. Restier L, Cheng L, Sanguinetti M. Mechanisms by which atrial fibrillation-associated mutations in the S1 domain of KCNQ1 slow deactivation of IKs channels. J Physiol. 2008;586:4179-91 pubmed publisher
    ..I(Ks) channels are formed by coassembly of pore-forming KCNQ1 alpha-subunits and ancillary KCNE1 beta-subunits...
  5. Chen Z, Yin Q, Ma G, Qian Q. KCNQ1 gene polymorphisms are associated with lipid parameters in a Chinese Han population. Cardiovasc Diabetol. 2010;9:35 pubmed publisher
    Four single nucleotide polymorphisms (SNPs) (rs2237892, rs2237895, rs2237897, and rs2283228) in KCNQ1 are reported to be associated with type 2 diabetes mellitus (T2DM), possibly caused by a reduction in insulin secretion and higher ..
  6. Moss A, Shimizu W, Wilde A, Towbin J, Zareba W, Robinson J, et al. Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation. 2007;115:2481-9 pubmed
    Type-1 long-QT syndrome (LQTS) is caused by loss-of-function mutations in the KCNQ1-encoded I(Ks) cardiac potassium channel...
  7. Napolitano C, Priori S, Schwartz P, Bloise R, Ronchetti E, Nastoli J, et al. Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005;294:2975-80 pubmed
    ..We investigated whether the detection of a set of frequently mutated codons in the KCNQ1, KCNH2, and SCN5A genes may translate in a novel strategy for rapid efficient genetic testing of 430 consecutive ..
  8. Tan J, Ng D, Nurbaya S, Ye S, Lim X, Leong H, et al. Polymorphisms identified through genome-wide association studies and their associations with type 2 diabetes in Chinese, Malays, and Asian-Indians in Singapore. J Clin Endocrinol Metab. 2010;95:390-7 pubmed publisher
    ..To examine the effects of SNPs in CDKAL1, CDKN2A/B, IGF2BP2, HHEX, SLC30A8, PKN2, LOC387761, and KCNQ1 on risk of T2DM in Chinese, Malays, and Asian-Indians in Singapore...
  9. Silva J, Rudy Y. Subunit interaction determines IKs participation in cardiac repolarization and repolarization reserve. Circulation. 2005;112:1384-91 pubmed
    ..We develop a detailed Markov model of IKs and its alpha-subunit KCNQ1 and examine their kinetic properties during the cardiac ventricular action potential at different rates...
  10. Ghosh S, Nunziato D, Pitt G. KCNQ1 assembly and function is blocked by long-QT syndrome mutations that disrupt interaction with calmodulin. Circ Res. 2006;98:1048-54 pubmed
    ..Here we show that CaM is a constitutive component of KCNQ1 K+ channels, the most commonly mutated long-QT syndrome (LQTS) locus...
  11. Liu Y, Zhou D, Zhang D, Chen Z, Zhao T, Zhang Z, et al. Variants in KCNQ1 are associated with susceptibility to type 2 diabetes in the population of mainland China. Diabetologia. 2009;52:1315-21 pubmed publisher
    ..association studies have identified several novel type 2 diabetes susceptibility variants in intron 15 of the KCNQ1 gene...
  12. Liu X, Zhang M, Jiang M, Wu D, Tseng G. Probing the interaction between KCNE2 and KCNQ1 in their transmembrane regions. J Membr Biol. 2007;216:117-27 pubmed
    ..Other than the KCNQ1/KCNE1 complex, little is known about how KCNE proteins work...
  13. Tinel N, Diochot S, Borsotto M, Lazdunski M, Barhanin J. KCNE2 confers background current characteristics to the cardiac KCNQ1 potassium channel. EMBO J. 2000;19:6326-30 pubmed
    Mutations in HERG and KCNQ1 (or KVLQT1) genes cause the life-threatening Long QT syndrome...
  14. Hu C, Wang C, Zhang R, Ma X, Wang J, Lu J, et al. Variations in KCNQ1 are associated with type 2 diabetes and beta cell function in a Chinese population. Diabetologia. 2009;52:1322-5 pubmed publisher
    ..genome-wide association studies in East Asian populations reported that single nucleotide polymorphisms (SNPs) in KCNQ1 are associated with type 2 diabetes. The aim of this study was to validate this finding in a Chinese population...
  15. Neyroud N, Richard P, Vignier N, Donger C, Denjoy I, Demay L, et al. Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. Circ Res. 1999;84:290-7 pubmed
    The voltage-gated K+ channel KVLQT1 is essential for the repolarization phase of the cardiac action potential and for K+ homeostasis in the inner ear...
  16. Bartos D, Duchatelet S, Burgess D, Klug D, Denjoy I, Peat R, et al. R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation. Heart Rhythm. 2011;8:48-55 pubmed publisher
    Loss-of-function mutations in the gene KCNQ1 encoding the Kv7.1 K(+) channel cause long QT syndrome type 1 (LQT1), whereas gain-of-function mutations are associated with short QT syndrome as well as familial atrial fibrillation (FAF)...
  17. Schwartz P, Priori S, Spazzolini C, Moss A, Vincent G, Napolitano C, et al. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation. 2001;103:89-95 pubmed
    ..We identified 670 LQTS patients of known genotype (LQT1, n=371; LQT2, n=234; LQT3, n=65) who had symptoms (syncope, cardiac arrest, sudden death) and examined whether 3 ..
  18. Schmitt N, Schwarz M, Peretz A, Abitbol I, Attali B, Pongs O. A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly. EMBO J. 2000;19:332-40 pubmed
    ..LQT patients suffer from syncopal episodes and high risk of sudden death. The KCNQ1 gene encodes KvLQT1 alpha-subunits, which together with auxiliary IsK (KCNE1, minK) subunits form IK(s) K(+) channels...
  19. Angelo K, Jespersen T, Grunnet M, Nielsen M, Klaerke D, Olesen S. KCNE5 induces time- and voltage-dependent modulation of the KCNQ1 current. Biophys J. 2002;83:1997-2006 pubmed
    ..Here we show that KCNE5 induces both a time- and voltage-dependent modulation of the KCNQ1 current...
  20. Abraham R, Yang T, Blair M, Roden D, Darbar D. Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation. J Mol Cell Cardiol. 2010;48:181-90 pubmed publisher
    ..Among 231 participants in the Vanderbilt AF Registry, we found a mutation in KCNQ1 (encoding the alpha-subunit of slow delayed rectifier potassium current [I(Ks)]) and separately a mutation in ..
  21. Modell S, Lehmann M. The long QT syndrome family of cardiac ion channelopathies: a HuGE review. Genet Med. 2006;8:143-55 pubmed
    ..The "family" concept of syndromes has been applied to the multiple LQTS genotypes, LQT1-8, which exhibit converging mechanisms leading to QT prolongation and slowed ventricular repolarization...
  22. Splawski I, Shen J, Timothy K, Lehmann M, Priori S, Robinson J, et al. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000;102:1178-85 pubmed
    ..Five genes have been implicated in Romano-Ward syndrome, the autosomal dominant form of LQTS: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2...
  23. Chen Z, Zhang X, Ma G, Qian Q, Yao Y. Association study of four variants in KCNQ1 with type 2 diabetes mellitus and premature coronary artery disease in a Chinese population. Mol Biol Rep. 2010;37:207-12 pubmed publisher
    Four single nucleotide polymorphisms (SNPs, rs2237892, rs2237895, rs2237897, rs2283228) in KCNQ1 are associated with type 2 diabetes mellitus in different ancestral groups...
  24. Cui B, Zhu X, Xu M, Guo T, Zhu D, Chen G, et al. A genome-wide association study confirms previously reported loci for type 2 diabetes in Han Chinese. PLoS ONE. 2011;6:e22353 pubmed publisher
    ..We validated the associations of KCNQ1 (rs163182, p?=?2.085×10(-17), OR 1.28) and C2CD4A/B (rs1370176, p?=?3.677×10(-4), OR 1.124; rs1436953, p?=?7...
  25. Müssig K, Staiger H, Machicao F, Kirchhoff K, Guthoff M, Schäfer S, et al. Association of type 2 diabetes candidate polymorphisms in KCNQ1 with incretin and insulin secretion. Diabetes. 2009;58:1715-20 pubmed publisher
    b>KCNQ1 gene polymorphisms are associated with type 2 diabetes. This linkage appears to be mediated by altered beta-cell function...
  26. Roura Ferrer M, Sole L, Oliveras A, Dahan R, Bielanska J, Villarroel A, et al. Impact of KCNE subunits on KCNQ1 (Kv7.1) channel membrane surface targeting. J Cell Physiol. 2010;225:692-700 pubmed publisher
    The KCNQ1 (Kv7.1) channel plays an important role in cardiovascular physiology. Cardiomyocytes co-express KCNQ1 with KCNE1-5 proteins...
  27. Manderfield L, George A. KCNE4 can co-associate with the I(Ks) (KCNQ1-KCNE1) channel complex. FEBS J. 2008;275:1336-49 pubmed publisher
    ..studies have demonstrated diverse functional effects of KCNE subunits on several K(V) channels, including KCNQ1 (K(V)7...
  28. Panaghie G, Tai K, Abbott G. Interaction of KCNE subunits with the KCNQ1 K+ channel pore. J Physiol. 2006;570:455-67 pubmed
    b>KCNQ1 alpha subunits form functionally distinct potassium channels by coassembling with KCNE ancillary subunits MinK and MiRP2. MinK-KCNQ1 channels generate the slowly activating, voltage-dependent cardiac IKs current...
  29. Chouabe C, Neyroud N, Richard P, Denjoy I, Hainque B, Romey G, et al. Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. Cardiovasc Res. 2000;45:971-80 pubmed
    ..pointing out the critical role of these positively charged residues in the modulation of the gating properties of KvLQT1 by IsK. The positive shift induced by R533W was merely 15%...
  30. Westenskow P, Splawski I, Timothy K, Keating M, Sanguinetti M. Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004;109:1834-41 pubmed
    ..The mechanism of this phenotypic variability is not understood. Genetic analyses of KVLQT1, HERG, KCNE1, KCNE2, and SCN5A detected compound mutations in 20 of 252 LQTS probands (7.9%)...
  31. Sharma D, Glatter K, Timofeyev V, Tuteja D, Zhang Z, Rodriguez J, et al. Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing. J Mol Cell Cardiol. 2004;37:79-89 pubmed
    ..Mutations in several ion channel genes have been discovered in different families with LQTS: KCNQ1 (KVLQT1, LQT1), KCNH2 (HERG, LQT2), SCN5A (LQT3), KCNE1 (minK, LQT5), and KCNE2 (MiRP1, LQT6)...
  32. Been L, Ralhan S, Wander G, Mehra N, Singh J, Mulvihill J, et al. Variants in KCNQ1 increase type II diabetes susceptibility in South Asians: a study of 3,310 subjects from India and the US. BMC Med Genet. 2011;12:18 pubmed publisher
    Polymorphisms in intron 15 of potassium voltage-gated channel, KQT-like subfamily member 1 (KCNQ1) gene have been associated with type II diabetes (T2D) in Japanese genome-wide association studies (GWAS)...
  33. Hara K, Fujita H, Johnson T, Yamauchi T, Yasuda K, Horikoshi M, et al. Genome-wide association study identifies three novel loci for type 2 diabetes. Hum Mol Genet. 2014;23:239-46 pubmed publisher
    ..20). This study demonstrates that GWASs based on the imputation of genotypes using modern reference haplotypes such as that from the 1000 Genomes Project data can assist in identification of new loci for common diseases. ..
  34. Krumerman A, Gao X, Bian J, Melman Y, Kagan A, McDonald T. An LQT mutant minK alters KvLQT1 trafficking. Am J Physiol Cell Physiol. 2004;286:C1453-63 pubmed
    ..activated delayed-rectifier K(+) current, is produced by the protein complex composed of alpha- and beta-subunits: KvLQT1 and minK...
  35. Winbo A, Diamant U, Rydberg A, Persson J, Jensen S, Stattin E. Origin of the Swedish long QT syndrome Y111C/KCNQ1 founder mutation. Heart Rhythm. 2011;8:541-7 pubmed publisher
    The Y111C/KCNQ1 mutation causes a dominant-negative effect in vitro but a benign clinical phenotype in a Swedish long QT syndrome population...
  36. Bhuiyan Z, Momenah T, Amin A, Al Khadra A, Alders M, Wilde A, et al. An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome. Prog Biophys Mol Biol. 2008;98:319-27 pubmed publisher
    ..JLNs) are two inherited arrhythmia disorders caused by monoallelic or bi-allelic mutations, respectively, in the KCNQ1 or KCNE1 genes. Both disorders could cause Long QT syndrome either without deafness (RWs), or with deafness (JLNs)...
  37. Millat G, Kugener B, Chevalier P, Chahine M, Huang H, Malicier D, et al. Contribution of long-QT syndrome genetic variants in sudden infant death syndrome. Pediatr Cardiol. 2009;30:502-9 pubmed publisher
    ..After a standardized autopsy protocol, a blinded molecular screening of the KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 genes was performed on each case...
  38. Jonsson A, Isomaa B, Tuomi T, Taneera J, Salehi A, Nilsson P, et al. A variant in the KCNQ1 gene predicts future type 2 diabetes and mediates impaired insulin secretion. Diabetes. 2009;58:2409-13 pubmed publisher
    ..association studies for type 2 diabetes in Japanese subjects have recently identified common variants in the KCNQ1 gene that are strongly associated with type 2 diabetes...
  39. Bartos D, Anderson J, Bastiaenen R, Johnson J, Gollob M, Tester D, et al. A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation. J Cardiovasc Electrophysiol. 2013;24:562-9 pubmed publisher
    ..Candidate gene sequencing in 5 unrelated families with familial AF identified the KCNQ1 missense mutation p.Arg231His (R231H)...
  40. Tranebjaerg L, Bathen J, Tyson J, Bitner Glindzicz M. Jervell and Lange-Nielsen syndrome: a Norwegian perspective. Am J Med Genet. 1999;89:137-46 pubmed
    ..Nowhere is the prevalence so high as in Norway, where we estimate a prevalence of at least 1:200,000. The KCNQ1 and KCNE1 proteins coassemble in a potassium channel, and mutations in either the KCNQ1 gene or the KCNE1 gene ..
  41. Lai L, Su Y, Hsieh F, Chiang F, Juang J, Liu Y, et al. Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms. J Hum Genet. 2005;50:490-6 pubmed
    ..With this method, we identified the mutation(s) in all four patients with congenital LQTS (KCNQ1 A341V, KCNH2 N633D, KCNH2 2768Cdel and KCNE1 K70 N Y81C double mutations)...
  42. Rice K, Dickson G, Lane M, Crawford J, Chung S, Rees M, et al. Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: a marker of severe KCNQ1 dysfunction?. Heart Rhythm. 2011;8:551-4 pubmed publisher
    The potassium channel I(Ks), which is encoded by the KCNQ1 gene, is expressed in organ systems including the inner ear, kidneys, lungs, intestine, and stomach in addition to the heart...
  43. Zheng R, Thompson K, Obeng Gyimah E, Alessi D, Chen J, Cheng H, et al. Analysis of the interactions between the C-terminal cytoplasmic domains of KCNQ1 and KCNE1 channel subunits. Biochem J. 2010;428:75-84 pubmed publisher
    Ion channel subunits encoded by KCNQ1 and KCNE1 produce the slowly activating K+ current (IKs) that plays a central role in myocardial repolarization...
  44. Neyroud N, Tesson F, Denjoy I, Leibovici M, Donger C, Barhanin J, et al. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet. 1997;15:186-9 pubmed
    ..Recombinants allowed us to map the JLN gene between D11S922 and D11S4146, to a 6-cM interval where KVLQT1, a potassium channel gene causing Romano-Ward (RW) syndrome, the dominant form of long QT syndrome, has been ..
  45. Bianchi L, Shen Z, Dennis A, Priori S, Napolitano C, Ronchetti E, et al. Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome. Hum Mol Genet. 1999;8:1499-507 pubmed
    ..Mutations in the minK gene KCNE1 have been linked to the LQT5 variant of human long QT syndrome. MinK assembles with KvLQT1 to produce the slow delayed rectifier K+ current IKs and may assemble with HERG to modulate the rapid delayed ..
  46. Mank Seymour A, Richmond J, Wood L, Reynolds J, Fan Y, Warnes G, et al. Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. Am Heart J. 2006;152:1116-22 pubmed
    ..Six novel mutations--4 in ANK2, 1 in KCNQ1, and 1 in SCN5A--were found in the patients with TdP...
  47. Han X, Luo Y, Ren Q, Zhang X, Wang F, Sun X, et al. Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in type 2 diabetes in a Chinese population. BMC Med Genet. 2010;11:81 pubmed publisher
    ..genetic loci for type 2 diabetes (T2D); among these genes, CDKAL1, IGF2BP2, SLC30A8, CDKN2A/B, HHEX, FTO, TCF2, KCNQ1, and WFS1 are the most important...
  48. Ma L, Ohmert I, Vardanyan V. Allosteric features of KCNQ1 gating revealed by alanine scanning mutagenesis. Biophys J. 2011;100:885-94 pubmed publisher
    ..Here, we describe the peculiarities of the KCNQ1 gating process in parallel comparison to Shaker...
  49. Zhang Y, Chang B, Hu S, Wang D, Fang Q, Huang X, et al. Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia. Ann Noninvasive Electrocardiol. 2008;13:180-90 pubmed publisher
    ..were selected for association study, and a total of 19 previously reported SNPs in four cardiac ion channel genes (KCNQ1, KCNH2, SCN5A, KCNE1) were genotyped...
  50. Stancakova A, Kuulasmaa T, Paananen J, Jackson A, Bonnycastle L, Collins F, et al. Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men. Diabetes. 2009;58:2129-36 pubmed publisher
    ..SLC30A8, HHEX, LOC387761, CDKN2B, IGF2BP2, CDKAL1, HNF1B, WFS1, JAZF1, CDC123, TSPAN8, THADA, ADAMTS9, NOTCH2, KCNQ1, and MTNR1B were performed. HNF1B rs757210 was excluded because of failure to achieve Hardy-Weinberg equilibrium...
  51. Peroz D, Rodriguez N, Choveau F, Baró I, Merot J, Loussouarn G. Kv7.1 (KCNQ1) properties and channelopathies. J Physiol. 2008;586:1785-9 pubmed publisher
    b>KCNQ1 is the pore-forming subunit of a channel complex whose expression and function have been rather well characterized in the heart...
  52. Ohshige T, Tanaka Y, Araki S, Babazono T, Toyoda M, Umezono T, et al. A single nucleotide polymorphism in KCNQ1 is associated with susceptibility to diabetic nephropathy in japanese subjects with type 2 diabetes. Diabetes Care. 2010;33:842-6 pubmed publisher
    Genetic factors have been considered to contribute to the development and progression of diabetic nephropathy. The KCNQ1 gene (potassium voltage-gated channel, KQT-like subfamily, member 1) was originally identified as a strong ..
  53. Chen J, Zheng R, Melman Y, McDonald T. Functional interactions between KCNE1 C-terminus and the KCNQ1 channel. PLoS ONE. 2009;4:e5143 pubmed publisher
    The KCNE1 gene product (minK protein) associates with the cardiac KvLQT1 potassium channel (encoded by KCNQ1) to create the cardiac slowly activating delayed rectifier, I(Ks)...
  54. Yu W, Ma R, Hu C, So W, Zhang R, Wang C, et al. Association between KCNQ1 genetic variants and obesity in Chinese patients with type 2 diabetes. Diabetologia. 2012;55:2655-2659 pubmed publisher
    ..The aim of this study is to explore the association between the established type 2 diabetes locus KCNQ1 and obesity in Han Chinese...
  55. Tan J, Nurbaya S, Gardner D, Ye S, Tai E, Ng D. Genetic variation in KCNQ1 associates with fasting glucose and beta-cell function: a study of 3,734 subjects comprising three ethnicities living in Singapore. Diabetes. 2009;58:1445-9 pubmed publisher
    The potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1) has been found through a genome-wide association study to be a strong candidate for conferring susceptibility to type 2 diabetes in East Asian and European ..
  56. Kapplinger J, Tester D, Salisbury B, Carr J, Harris Kerr C, Pollevick G, et al. Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009;6:1297-303 pubmed publisher
    ..age at testing 23 +/- 17 years, range 0 to 90 years) scanned for mutations in 5 of the LQTS-susceptibility genes: KCNQ1 (LQT1), KCNH2 (LQT2), SCN5A (LQT3), KCNE1 (LQT5), and KCNE2 (LQT6)...
  57. Tanaka T, Nagai R, Tomoike H, Takata S, Yano K, Yabuta K, et al. Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. Circulation. 1997;95:565-7 pubmed
    ..Three genes responsible for this syndrome (KVLQT1, HERG, and SCN5A) have been identified so far. We investigated mutations of these genes in LQTS families...
  58. Ruscic K, Miceli F, Villalba Galea C, Dai H, Mishina Y, Bezanilla F, et al. IKs channels open slowly because KCNE1 accessory subunits slow the movement of S4 voltage sensors in KCNQ1 pore-forming subunits. Proc Natl Acad Sci U S A. 2013;110:E559-66 pubmed publisher
    ..I(Ks) channels are composed of KCNQ1 (Q1) pore-forming subunits that carry S4 voltage-sensor segments and KCNE1 (E1) accessory subunits...
  59. Li Y, Gao J, Lu Z, McFarland K, Shi J, Bock K, et al. Intracellular ATP binding is required to activate the slowly activating K+ channel I(Ks). Proc Natl Acad Sci U S A. 2013;110:18922-7 pubmed publisher
    ..The slowly activating K(+) channel I(Ks) in cardiac myocytes is formed by KCNQ1 and KCNE1 subunits that conduct K(+) to repolarize the action potential...
  60. Chouabe C, Neyroud N, Guicheney P, Lazdunski M, Romey G, Barhanin J. Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. EMBO J. 1997;16:5472-9 pubmed
    Mutations in the delayed rectifier K+ channel subunit KvLQT1 have been identified as responsible for both Romano-Ward (RW) and Jervell and Lange-Nielsen (JLN) inherited long QT syndromes...
  61. Berge K, Haugaa K, Früh A, Anfinsen O, Gjesdal K, Siem G, et al. Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest. 2008;68:362-8 pubmed publisher
    Mutations in the KCNQ1, HERG, SCN5A, minK and MiRP1 genes cause long QT syndrome (LQTS), of which there are two forms: the Romano Ward syndrome and the Jervell and Lange-Nielsen syndrome...
  62. Zeng Z, Tan C, Teng S, Chen J, Su S, Zhou X, et al. The single nucleotide polymorphisms of I(Ks) potassium channel genes and their association with atrial fibrillation in a Chinese population. Cardiology. 2007;108:97-103 pubmed
    ..We investigated the association between AF and the single nucleotide polymorphisms (SNPs) of genes KCNQ1, KCNE1 and KCNE4 associated with this channel...
  63. Nishio H, Kuwahara M, Tsubone H, Koda Y, Sato T, Fukunishi S, et al. Identification of an ethnic-specific variant (V207M) of the KCNQ1 cardiac potassium channel gene in sudden unexplained death and implications from a knock-in mouse model. Int J Legal Med. 2009;123:253-7 pubmed publisher
    We performed mutation analysis for genes implicated in long QT syndrome (KCNQ1, KCNH2, and SCN5A) in 17 sudden unexplained death autopsy cases...
  64. Splawski I, Tristani Firouzi M, Lehmann M, Sanguinetti M, Keating M. Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nat Genet. 1997;17:338-40 pubmed
    ..Recent physiological studies suggest that KCNE1 encodes beta-subunits (hminK) that co-assemble with KvLQT1 alpha-subunits to form the slowly activating delayed rectifier K+ (IKs) channel...
  65. Panaghie G, Abbott G. The role of S4 charges in voltage-dependent and voltage-independent KCNQ1 potassium channel complexes. J Gen Physiol. 2007;129:121-33 pubmed
    ..MinK slows the activation of channels formed with KCNQ1 alpha subunits to generate the voltage-dependent I(Ks) channel in human heart; MiRP1 and MiRP2 remove the voltage ..
  66. Tsevi I, Vicente R, Grande M, Lopez Iglesias C, Figueras A, Capella G, et al. KCNQ1/KCNE1 channels during germ-cell differentiation in the rat: expression associated with testis pathologies. J Cell Physiol. 2005;202:400-10 pubmed
    b>KCNQ1/KCNE1 channels are responsible for the Jervell-Lange-Nielsen cardiac syndrome, which is also characterized by congenital deafness. KCNQ1/KCNE1 is crucial for K+ transport in the inner ear...
  67. Peretz A, Schottelndreier H, Aharon Shamgar L, Attali B. Modulation of homomeric and heteromeric KCNQ1 channels by external acidification. J Physiol. 2002;545:751-66 pubmed
    ..It consists of an assembly of two structurally distinct alpha and beta subunits called KCNQ1 and KCNE1, respectively...
  68. Nakajo K, Ulbrich M, Kubo Y, Isacoff E. Stoichiometry of the KCNQ1 - KCNE1 ion channel complex. Proc Natl Acad Sci U S A. 2010;107:18862-7 pubmed publisher
    The KCNQ1 voltage-gated potassium channel and its auxiliary subunit KCNE1 play a crucial role in the regulation of the heartbeat...
  69. Labro A, Boulet I, Choveau F, Mayeur E, Bruyns T, Loussouarn G, et al. The S4-S5 linker of KCNQ1 channels forms a structural scaffold with the S6 segment controlling gate closure. J Biol Chem. 2011;286:717-25 pubmed publisher
    In vivo, KCNQ1 ?-subunits associate with the ?-subunit KCNE1 to generate the slowly activating cardiac potassium current (I(Ks))...
  70. Manderfield L, Daniels M, Vanoye C, George A. KCNE4 domains required for inhibition of KCNQ1. J Physiol. 2009;587:303-14 pubmed publisher
    ..KCNE4 has a dramatic inhibitory effect on KCNQ1 that differs substantially from the activating effects of KCNE1 and KCNE3...
  71. Takeuchi F, Serizawa M, Yamamoto K, Fujisawa T, Nakashima E, Ohnaka K, et al. Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population. Diabetes. 2009;58:1690-9 pubmed publisher
    ..4 x 10(-5)) and three previously reported-were identified; the association of CDKAL1, CDKN2A/CDKN2B, and KCNQ1 were confirmed (P < 10(-19))...
  72. Splawski I, Timothy K, Vincent G, Atkinson D, Keating M. Molecular basis of the long-QT syndrome associated with deafness. N Engl J Med. 1997;336:1562-7 pubmed
  73. Holmkvist J, Banasik K, Andersen G, Unoki H, Jensen T, Pisinger C, et al. The type 2 diabetes associated minor allele of rs2237895 KCNQ1 associates with reduced insulin release following an oral glucose load. PLoS ONE. 2009;4:e5872 pubmed publisher
    Polymorphisms in the potassium channel, voltage-gated, KQT-like subfamily, member 1 (KCNQ1) have recently been reported to associate with type 2 diabetes...
  74. Qi Q, Li H, Loos R, Liu C, Wu Y, Hu F, et al. Common variants in KCNQ1 are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population. Hum Mol Genet. 2009;18:3508-15 pubmed publisher
    Common variants in KCNQ1 have recently been reported to be associated with type 2 diabetes in East Asians...
  75. Shalaby F, Levesque P, Yang W, Little W, Conder M, Jenkins West T, et al. Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. Circulation. 1997;96:1733-6 pubmed
    Mutations that map to the KvLQT1 gene on human chromosome 11 account for more than 50% of inherited long QT syndrome (LQTS)...
  76. Paulussen A, Gilissen R, Armstrong M, Doevendans P, Verhasselt P, Smeets H, et al. Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl). 2004;82:182-8 pubmed
    ..Five cLQTS genes ( KCNH2, KCNQ1, SCN5A, KCNE1, KCNE2) were thoroughly screened for genetic variations in 32 drug-induced aLQTS patients with ..
  77. Shamgar L, Ma L, Schmitt N, Haitin Y, Peretz A, Wiener R, et al. Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations. Circ Res. 2006;98:1055-63 pubmed
    ..IKS K+ channel plays a major role in repolarizing the cardiac action potential and consists of the assembly of KCNQ1 and KCNE1 subunits...
  78. Das S, Makino S, Melman Y, Shea M, Goyal S, Rosenzweig A, et al. Mutation in the S3 segment of KCNQ1 results in familial lone atrial fibrillation. Heart Rhythm. 2009;6:1146-53 pubmed publisher
    ..Evidence of linkage was obtained with marker D11S4088 located within KCNQ1, and a highly conserved serine in the third transmembrane region was found to be mutated to a proline (S209P)...
  79. Winbo A, Diamant U, Stattin E, Jensen S, Rydberg A. Low incidence of sudden cardiac death in a Swedish Y111C type 1 long-QT syndrome population. Circ Cardiovasc Genet. 2009;2:558-64 pubmed publisher
    ..The Y111C-KCNQ1 mutation causes a severe phenotype in vitro, suggesting a high-risk mutation...
  80. Albert C, Macrae C, Chasman D, VanDenburgh M, Buring J, Manson J, et al. Common variants in cardiac ion channel genes are associated with sudden cardiac death. Circ Arrhythm Electrophysiol. 2010;3:222-9 pubmed publisher
    ..5 noncoding SNPs associated with QT interval duration, and 5 nonsynonymous SNPs) in 5 cardiac ion channel genes, KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2, and sudden and/or arrhythmic death in a combined nested case-control analysis ..
  81. Mall M, Wissner A, Schreiber R, Kuehr J, Seydewitz H, Brandis M, et al. Role of K(V)LQT1 in cyclic adenosine monophosphate-mediated Cl(-) secretion in human airway epithelia. Am J Respir Cell Mol Biol. 2000;23:283-9 pubmed
    ..Cl(-) secretion was significantly inhibited by the chromanol 293B (10 micromol/liter), a specific inhibitor of K(V)LQT1 K(+) channels. Inhibition was increased after cAMP-dependent stimulation...
  82. Marx S, Kurokawa J, Reiken S, Motoike H, D ARMIENTO J, Marks A, et al. Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel. Science. 2002;295:496-9 pubmed
    ..Yotiao binds to hKCNQ1 by a leucine zipper motif, which is disrupted by an LQTS mutation (hKCNQ1-G589D). Identification of the hKCNQ1 macromolecular complex provides a mechanism for SNS modulation of cardiac APD through IKS. ..
  83. Liang L, Du Z, Cai L, Wu J, Zheng T, Qi T. [A novel KCNQ1 mutation in Chinese with congenital long QT syndrome]. Zhonghua Er Ke Za Zhi. 2003;41:724-7 pubmed
    ..One of these genes, KCNQ1, encodes an alpha-subunit of cardiac slowly activated delayed rectifier potassium channel...
  84. Thakur N, Tiwari V, Thomassin H, Pandey R, Kanduri M, Göndör A, et al. An antisense RNA regulates the bidirectional silencing property of the Kcnq1 imprinting control region. Mol Cell Biol. 2004;24:7855-62 pubmed
    The Kcnq1 imprinting control region (ICR) located in intron 10 of the Kcnq1 gene is unmethylated on the paternal chromosome and methylated on the maternal chromosome and has been implicated in the manifestation of parent-of-origin-..
  85. Tester D, Will M, Haglund C, Ackerman M. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005;2:507-17 pubmed
    ..A cardiac channel gene screen for LQTS-causing mutations in KCNQ1 (LQT1), KCNH2 (LQT2), SCN5A (LQT3), KCNE1 (LQT5), and KCNE2 (LQT6) was performed for 541 consecutive, unrelated ..
  86. Gouas L, Nicaud V, Berthet M, Forhan A, Tiret L, Balkau B, et al. Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population. Eur J Hum Genet. 2005;13:1213-22 pubmed
    ..Neither allele nor haplotype frequencies of the 10 KCNQ1 SNPs showed a significant difference between the two groups...
  87. Chang Y, Chiu Y, Liu P, Shih K, Lin M, Sheu W, et al. Replication of genome-wide association signals of type 2 diabetes in Han Chinese in a prospective cohort. Clin Endocrinol (Oxf). 2012;76:365-72 pubmed publisher
    ..polymorphisms (SNPs) near the protein tyrosine phosphatase, receptor type, D (PTPRD), SRR, MAF/WWOX, and KCNQ1 genes were genotyped in 1138 subjects of Chinese origin from the Stanford Asia-Pacific Program for Hypertension ..
  88. Heijman J, Spätjens R, Seyen S, Lentink V, Kuijpers H, Boulet I, et al. Dominant-negative control of cAMP-dependent IKs upregulation in human long-QT syndrome type 1. Circ Res. 2012;110:211-9 pubmed publisher
    The mutation A341V in the S6 transmembrane segment of KCNQ1, the ?-subunit of the slowly activating delayed-rectifier K(+) (I(Ks)) channel, predisposes to a severe long-QT1 syndrome with sympathetic-triggered ventricular tachyarrhythmias ..
  89. Saif Ali R, Muniandy S, Al Hamodi Z, Lee C, Ahmed K, Al Mekhlafi A, et al. KCNQ1 variants associate with type 2 diabetes in Malaysian Malay subjects. Ann Acad Med Singapore. 2011;40:488-92 pubmed
    Type 2 diabetes (T2D) candidate gene: potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1) was suggested by conducting a genome wide association study (GWAS) in Japanese population...
  90. Sun Q, Song K, Shen X, Cai Y. The association between KCNQ1 gene polymorphism and type 2 diabetes risk: a meta-analysis. PLoS ONE. 2012;7:e48578 pubmed publisher
    ..channel KQT-like sub-family, member 1) encodes a pore-forming subunit of a voltage-gated K(+) channel (KvLQT1) that plays a key role for the repolarization of the cardiac action potential as well as water and salt transport ..
  91. Pfeufer A, Jalilzadeh S, Perz S, Mueller J, Hinterseer M, Illig T, et al. Common variants in myocardial ion channel genes modify the QT interval in the general population: results from the KORA study. Circ Res. 2005;96:693-701 pubmed
    ..Using a two-step design we analyzed 174 SNPs from the KCNQ1, KCNH2, KCNE1, and KCNE2 genes in 689 individuals from the population-based KORA study and 14 SNPs with results ..
  92. Arnestad M, Crotti L, Rognum T, Insolia R, Pedrazzini M, Ferrandi C, et al. Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007;115:361-7 pubmed
    ..Molecular screening of 7 genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CAV3) associated with LQTS was performed with denaturing high-performance ..