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Potassium voltage-gated channel, KQT-like subfamily, member 1

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] (from NCBI)
Top mentioned proteins: KCNE1, HERG, HAD, CAN, SCN5A
Papers using KCNQ1 antibodies
Murine middle ear inflammation and ion homeostasis gene expression.
Juhn Steven K., In PLoS ONE, 2010
... KCNQ1, (Carboxyterminal)Rabbit Affinity Purified Polyclonal AntibodyAbcam Inc ...
Papers on KCNQ1
TGF-β/β2-spectrin/CTCF-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome.
Mishra et al., In J Clin Invest, Feb 2016
Imprinting of the IGF2/H19 locus and the CDKN1C/KCNQ1 locus on chromosome 11p15.5 is mediated by CTCF, and this regulation is lost in BWS, leading to aberrant overexpression of growth-promoting genes.
KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.
Abbott, Irvine, United States. In Gene, Feb 2016
The primary function of KCNE subunits appears to be regulation of voltage-gated potassium (Kv) channels, and the best-understood KCNE complexes are with the KCNQ1 Kv α subunit.
TBX5 mutations contribute to early-onset atrial fibrillation in Chinese and Caucasians.
Tian et al., Shanghai, China. In Cardiovasc Res, Feb 2016
METHODS AND RESULTS: We screened six candidate genes (CAV1, KCNJ2, KCNQ1, NKX2.5, PITX2, and TBX5) for novel mutations in 139 patients of Chinese descent with early-onset AF and 576 controls.
Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.
Cui, Saint Louis, United States. In Biophys J, Feb 2016
KCNQ1 is a voltage-gated potassium (Kv) channel whose distinctive properties have provided novel insights on fundamental principles of voltage-dependent gating.
The residue I257 at S4-S5 linker in KCNQ1 determines KCNQ1/KCNE1 channel sensitivity to 1-alkanols.
Yao et al., Wuhan, China. In Acta Pharmacol Sin, Jan 2016
AIM: KCNQ1 and KCNE1 form a complex in human ventricular cardiomyocytes, which are important in maintaining a normal heart rhythm.
Regulation of SCN3B/scn3b by Interleukin 2 (IL-2): IL-2 modulates SCN3B/scn3b transcript expression and increases sodium current in myocardial cells.
Tu et al., Wuhan, China. In Bmc Cardiovasc Disord, Dec 2015
METHODS: In the present study, we observed the effect of IL-2 by qRT-PCR on the transcription of ion channel genes including SCN2A, SCN3A, SCN4A, SCN5A, SCN9A, SCN10A, SCN1B, SCN2B, SCN3B, KCNN1, KCNJ5, KCNE1, KCNE2, KCNE3, KCND3, KCNQ1, KCNA5, KCNH2 and CACNA1C.
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.
DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium et al., Stanford, United States. In Nat Genet, Dec 2015
We identified 49 distinct association signals at these loci, including five mapping in or near KCNQ1.
Exercise-associated DNA methylation change in skeletal muscle and the importance of imprinted genes: a bioinformatics meta-analysis.
Brown, In Br J Sports Med, Dec 2015
RESULTS: Six imprinted loci (RB1, MEG3, UBE3A, PLAGL1, SGCE, INS) were important for muscle gene networks, while meta-analysis uncovered five exercise-associated imprinted loci (KCNQ1, MEG3, GRB10, L3MBTL1, PLAGL1).
A HuGE Review and Meta-Analyses of Genetic Associations in New Onset Diabetes after Kidney Transplantation.
McKnight et al., Belfast, United Kingdom. In Plos One, Dec 2015
(n = 696 individuals), KCNQ1 rs2237892 p = 0.007 OR = 1.43, 95% CI = 1.10-1.86
Height-reducing variants and selection for short stature in Sardinia.
Cucca et al., Cagliari, Italy. In Nat Genet, Nov 2015
The other variant, in the imprinted KCNQ1 gene (minor allele frequency (MAF) = 7.7% in Sardinia versus <1% elsewhere) reduces height by an average of 1.83 cm (-0.31 s.d.) when maternally inherited.
The KCNQ1 channel - remarkable flexibility in gating allows for functional versatility.
Larsson et al., Miami, United States. In J Physiol, Jul 2015
The KCNQ1 channel (also called Kv7.1 or KvLQT1) belongs to the superfamily of voltage-gated K(+) (Kv) channels.
KCNQ1 channel modulation by KCNE proteins via the voltage-sensing domain.
Kubo et al., Okazaki, Japan. In J Physiol, Jul 2015
The gating of the KCNQ1 potassium channel is drastically regulated by auxiliary subunit KCNE proteins.
Long QT syndrome-associated mutations in intrauterine fetal death.
Ackerman et al., Pavia, Italy. In Jama, 2013
MAIN OUTCOMES AND MEASURES: Comprehensive mutational analyses of KCNQ1 (KV7.1,
T-wave morphology after epinephrine bolus may reveal silent long QT syndrome mutation carriers.
Lauri et al., Helsinki, Finland. In J Electrocardiol, 2012
epinephrine injection helps to distinguish silent LQTS mutation KCNQ1 carriers. This concerns also the LQT3 subtype
Allosteric gating mechanism underlies the flexible gating of KCNQ1 potassium channels.
Larsson et al., New York City, United States. In Proc Natl Acad Sci U S A, 2012
model allows for widely varying gating behavior, depending on the relative strength of the opening transition, and suggests how KCNQ1 could be controlled by coassembly with different KCNE family members.
Regulation of KCNQ1/KCNE1 by β-catenin.
Lang et al., Tübingen, Germany. In Mol Membr Biol, 2012
KCNE1/KCNQ1 was expressed in Xenopus oocytes with and without beta-catenin. Confocal microscopy revealed that beta-catenin enhanced the KCNE1/KCNQ1 protein abundance in the cell membrane.
Several polymorphisms of KCNQ1 gene are associated with plasma lipid levels in general Chinese populations.
Wang et al., Shanghai, China. In Plos One, 2011
polymorphisms of KCNQ1 gene are associated with plasma lipid levels in general Chinese populations
Overlapping cardiac phenotype associated with a familial mutation in the voltage sensor of the KCNQ1 channel.
Seebohm et al., Bochum, Germany. In Cell Physiol Biochem, 2011
KCNQ1 mutation reduced voltage sensitivity of channels, possibly due to neutralization of the positive charge of the arginine side chain substituted by cysteine
Patient-specific induced pluripotent stem-cell models for long-QT syndrome.
Laugwitz et al., München, Germany. In N Engl J Med, 2010
In long-QT syndrome type 1, mutations occur in the KCNQ1 gene, which encodes the repolarizing potassium channel mediating the delayed rectifier I(Ks) current.
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
GIANT Consortium et al., Cambridge, United States. In Nat Genet, 2010
These include a second independent signal at the KCNQ1 locus; the first report, to our knowledge, of an X-chromosomal association (near DUSP9); and a further instance of overlap between loci implicated in monogenic and multifactorial forms of diabetes (at HNF1A).
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