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Potassium Voltage Gated Channel KQT Like Subfamily, Member 1 (KCNQ1)

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KCNA8; ATFB1; JLNS1; KCNA9; KVLQT1; Kv1.9; Kv7.1; LQT1; RWS; SQT2; WRS; Jervell And Lange-Nielsen Syndrome 1; Voltage-gated potassium channel subunit Kv7.1

Potassium Voltage Gated Channel KQT Like Subfamily, Member 1 (KCNQ1)
CCC L051
HGNC 6294
MGI 108083
PubMed 15159330
RGD 621503
UniProt P51787
Wiki KvLQT1
KCNQ1 encodes a protein for a voltage-gated potassium channel required for the repolarization phase of the cardiac action potential. The gene product can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome, Romano-Ward syndrome, Jervell and Lange-Nielsen syndrome and familial atrial fibrillation.
The gene is located in a region of chromosome 11 that contains a large number of contiguous genes that are abnormally imprinted in cancer and the Beckwith-Wiedemann syndrome. Two alternative transcripts encoding distinct isoforms have been described.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Potassium Voltage Gated Channel KQT Like Subfamily, Member 1 (KCNQ1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Potassium Voltage Gated Channel KQT Like Subfamily, Member 1 (KCNQ1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Potassium Voltage Gated Channel KQT Like Subfamily, Member 1 (KCNQ1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Potassium Voltage Gated Channel KQT Like Subfamily, Member 1 (KCNQ1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Potassium Voltage Gated Channel KQT Like Subfamily, Member 1 (KCNQ1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Potassium Voltage Gated Channel KQT Like Subfamily, Member 1 (KCNQ1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Potassium Voltage Gated Channel KQT Like Subfamily, Member 1 (KCNQ1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Potassium Voltage Gated Channel KQT Like Subfamily, Member 1 (KCNQ1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Potassium Voltage Gated Channel KQT Like Subfamily, Member 1 (KCNQ1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Potassium Voltage Gated Channel KQT Like Subfamily, Member 1 (KCNQ1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Potassium Voltage Gated Channel KQT Like Subfamily, Member 1 (KCNQ1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Potassium Voltage Gated Channel KQT Like Subfamily, Member 1 (KCNQ1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Potassium Voltage Gated Channel KQT Like Subfamily, Member 1 (KCNQ1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Potassium Voltage Gated Channel KQT Like Subfamily, Member 1 (KCNQ1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Potassium Voltage Gated Channel KQT Like Subfamily, Member 1 (KCNQ1) ELISA Kit Customized Service Offer
  1. "Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias."EMBO J. 16:5472-5479(1997) [PubMed] [Europe PMC] [Abstract]
  2. "Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome."Hum. Genet. 103:290-294(1998) [PubMed] [Europe PMC] [Abstract]
  3. "Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome."Circ. Res. 84:290-297(1999) [PubMed] [Europe PMC] [Abstract]
  4. "KvLQT1, a voltage-gated potassium channel responsible for human cardiac arrhythmias."Proc. Natl. Acad. Sci. U.S.A. 94:4017-4021(1997) [PubMed] [Europe PMC] [Abstract]
  5. "Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel."Nature 384:80-83(1996) [PubMed] [Europe PMC] [Abstract]
  6. "Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias."Nat. Genet. 12:17-23(1996) [PubMed] [Europe PMC] [Abstract]
  7. "Suppression of slow delayed rectifier current by a truncated isoform of KvLQT1 cloned from normal human heart."J. Biol. Chem. 272:24109-24112(1997) [PubMed] [Europe PMC] [Abstract]
  8. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  10. "KCNE5 induces time- and voltage-dependent modulation of the KCNQ1 current."Biophys. J. 83:1997-2006(2002) [PubMed] [Europe PMC] [Abstract]
  11. "Crystal structure of a trimeric form of the K(V)7.1 (KCNQ1) A-domain tail coiled-coil reveals structural plasticity and context dependent changes in a putative coiled-coil trimerization motif."Protein Sci. 18:2100-2114(2009) [PubMed] [Europe PMC] [Abstract]
  12. "Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome."Circulation 96:1733-1736(1997) [PubMed] [Europe PMC] [Abstract]
  13. "Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors."J. Physiol. (Lond.) 522:349-355(2000) [PubMed] [Europe PMC] [Abstract]
  14. "A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly."EMBO J. 19:332-340(2000) [PubMed] [Europe PMC] [Abstract]
  15. "A constitutively open potassium channel formed by KCNQ1 and KCNE3."Nature 403:196-199(2000) [PubMed] [Europe PMC] [Abstract]
  16. "The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction."J. Biol. Chem. 283:5815-5830(2008) [PubMed] [Europe PMC] [Abstract]
  17. "Jervell and Lange-Nielsen syndrome: a Norwegian perspective."Am. J. Med. Genet. 89:137-146(1999) [PubMed] [Europe PMC] [Abstract]
  18. "KVLQT1 mutations in three families with familial or sporadic long QT syndrome."Hum. Mol. Genet. 5:1319-1324(1996) [PubMed] [Europe PMC] [Abstract]
  19. "Evidence of a long QT founder gene with varying phenotypic expression in South African families."J. Med. Genet. 33:567-573(1996) [PubMed] [Europe PMC] [Abstract]
  20. "A severe form of long-QT syndrome caused by KVLQT1 mutations located in cis (Abstract #2051)."Am. J. Hum. Genet. Suppl. 61:A350-A350(1997)
  21. "Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome."Circulation 95:565-567(1997) [PubMed] [Europe PMC] [Abstract]
  22. "KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome."Circulation 96:2778-2781(1997) [PubMed] [Europe PMC] [Abstract]
  23. "The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene."Hum. Genet. 100:356-361(1997) [PubMed] [Europe PMC] [Abstract]
  24. "Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias."Hum. Mol. Genet. 6:1943-1949(1997) [PubMed] [Europe PMC] [Abstract]
  25. "New mutations in the KVLQT1 potassium channel that cause long-QT syndrome."Circulation 97:1264-1269(1998) [PubMed] [Europe PMC] [Abstract]
  26. "A recessive variant of the Romano-Ward Long-QT syndrome?"Circulation 97:2420-2425(1998) [PubMed] [Europe PMC] [Abstract]
  27. "Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome."Eur. J. Hum. Genet. 6:129-133(1998) [PubMed] [Europe PMC] [Abstract]
  28. "Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1."Genomics 51:86-97(1998) [PubMed] [Europe PMC] [Abstract]
  29. "Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred."Hum. Mutat. 11:158-165(1998) [PubMed] [Europe PMC] [Abstract]
  30. "A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family."Pediatr. Res. 44:148-153(1998) [PubMed] [Europe PMC] [Abstract]
  31. "Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias."Am. J. Hum. Genet. 64:1015-1023(1999) [PubMed] [Europe PMC] [Abstract]
  32. "Congenital long QT syndrome. The value of genetics in prognostic evaluation."Arch. Mal. Coeur Vaiss. 92:557-563(1999) [PubMed] [Europe PMC] [Abstract]
  33. "Low penetrance in the long-QT syndrome: clinical impact."Circulation 99:529-533(1999) [PubMed] [Europe PMC] [Abstract]
  34. "Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene."Eur. J. Hum. Genet. 7:724-728(1999) [PubMed] [Europe PMC] [Abstract]
  35. "Novel KCNQ1 and HERG missense mutations in Dutch long-QT families."Hum. Mutat. 13:301-310(1999) [PubMed] [Europe PMC] [Abstract]
  36. "High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants."Hum. Mutat. 13:318-327(1999) [PubMed] [Europe PMC] [Abstract]
  37. "Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits."J. Biol. Chem. 274:21063-21070(1999) [PubMed] [Europe PMC] [Abstract]
  38. ErratumJ. Biol. Chem. 274:25188-25188(1999)
  39. "Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk."Cardiovasc. Res. 45:971-980(2000) [PubMed] [Europe PMC] [Abstract]
  40. "Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2."Circulation 102:1178-1185(2000) [PubMed] [Europe PMC] [Abstract]
  41. "KCNQ1 gain-of-function mutation in familial atrial fibrillation."Science 299:251-254(2003) [PubMed] [Europe PMC] [Abstract]
  42. "Mutation in the KCNQ1 gene leading to the short QT-interval syndrome."Circulation 109:2394-2397(2004) [PubMed] [Europe PMC] [Abstract]
  43. "Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing."Heart Rhythm 2:507-517(2005) [PubMed] [Europe PMC] [Abstract]
  44. "Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus." Nat. Genet. 40:1092-1097(2008) [PubMed] [Europe PMC] [Abstract]
  45. "SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations." Nat. Genet. 40:1098-1102(2008) [PubMed] [Europe PMC] [Abstract]
  46. "Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico."Nature 506:97-101(2014) [PubMed] [Europe PMC] [Abstract]
  47. "Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1."J. Mol. Cell. Cardiol. 48:230-237(2010) [PubMed] [Europe PMC] [Abstract]
  48. "Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability."Biochim. Biophys. Acta 1812:488-494(2011) [PubMed] [Europe PMC] [Abstract]