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Validated All-in-One™ qPCR Primer for KCNQ1(NM_000218.2) Search again
Product ID:
HQP010046
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
ATFB1, ATFB3, JLNS1, KCNA8, KCNA9, KVLQT1, Kv1.9, Kv7.1, LQT, LQT1, RWS, SQT2, WRS
Gene Description:
potassium voltage-gated channel subfamily Q member 1
Target Gene Accession:
NM_000218.2(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
This gene 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. [provided by RefSeq].
Gene References into function
- common polymorphisms of LQTS-associated genes might modify arrhythmia susceptibility in potential gene carriers.
- regulation by PKA-dependent phosphorylation requires a macromolecular complex that includes PKA, PP1, and the targeting protein yotiao
- Kcnq1 locus that regulates long range repression on the paternally derived p57Kip2 and Kcnq1 alleles in an imprinting domain that includes Igf2 and H19. This ICR appears to possess a unidirectional chromatin insulator function in somatic cells.
- evidence that not only homozygous but also compound heterozygous mutations in KvLQT1 may cause Jervell and Lange-Nielsen syndrome in nonconsanguineous families
- the analysed region of the KVLQT1 gene is not commonly involved in pathogenesis of the long QT syndrome
- Four novel KCNQ1 missense mutations were identified in long QT syndrome in China.
- External acidification acts on homomeric and heteromeric KCNQ1 channels via multiple mechanisms to affect gating and maximum conductance.
- Kcnq1 analysis shows that methylation occurs as a consequence of silencing
- the S140G mutation in KCNQ1 is likely to initiate and maintain atrial fibrillation by reducing action potential duration and effective refractory period in atrial myocytes
- A cytoplasmic carboxy-terminal subunit interaction domain (sid) suffices to transfer assembly properties between KCNQ3 and KCNQ1.
- Co-activation of hKvLQT1 improves CaCC-mediated Cl- secretion in native CF airway epithelia, and may have a therapeutic effect in the treatment of CF lung disease.
- expressed strongly in heart, skeletal muscle, and kidney, less in placenta, lung, and liver, and weakly in brain and blood cells. Electrophysiological study showed that KCNE4 modulates the activation of the KCNQ1 channel.
- missense mutations in KCNQ1 and SCN5A in a case of congenital Long QT Syndrome
- Novel compound heterozygous nonsense mutations in C-terminus of KCNQ1 can cause Jervell and Lange-Nielsen syndrome (JLNS).
- We characterize molecular determinants of R-L3 interaction with KCNQ1 channels, use computer modeling to propose a mechanism for drug-induced changes in channel gating, & determine its effect on several long-QT syndrome-associated mutant KCNQ1 channels
- Two novel deletion mutations and one novel polymorphism of KCNQ1 gene were identified among 6 Chinese families with congenital long QT syndrome(LQTS).
- Long-term follow-up of a LQT1 family with two KCNQ1amino acid alterations in cis (V254M-V417M); the V254M mutation introduced into Xenopus oocytes reduced the IKs current, while the effect of the V417M variant was negligible
- ER quality control prevents minK-L51H/KvLQT1 complexes from trafficking to the plasma membrane, resulting in decreased I(Ks).
- Beta-blockers are widely used to prevent the lethal cardiac events associated with the long QT syndrome (LQTS), especially in KCNQ1-related LQTS (LQT1) patients.
- despite the high degree of homology of the pore region among the various K(+) channels, KCNQ1 channels display significant structural and functional uniqueness.
- LQT1 patients with transmembrane mutations are at higher risk of congenital LQTS-related cardiac events and have greater sensitivity to sympathetic stimulation, as compared with patients with C-terminal mutations.
- a P448R polymorphism in KCNQ1 may have a role in long QT syndrome in Chinese patients
- The unmethylated Kcnq1 imprinting control region harbors bidirectional silencer activity and drives expression of an antisense RNA.
- Expression of KCNQ1 and KCNE1 associated with early stages of spermatogenesis and with presence of undifferentiated healthy or neoplastic germ cells. KCNQ1/KCNE1 may be involved in K+ transport, probably during germ-cell development.
- NF-Y transcription factor as a crucial regulator of antisense promoter-mediated bidirectional silencing and the parent of origin-specific epigenetic marks at the Kcnq1 imprinting control region
- mutational analysis in a family with Romano-Ward syndrome
- These findings indicate the importance of a putative pore helix-S5-S6 interaction for normal KCNQ1 channel deactivation and confirm its role in KCNQ1 inactivation.
- A missense mutation G940A(G314S) in the KCNQ1 gene was identified, which was the 'hot spot' of long QT syndrome mutation.
- Based upon previous studies and the present results, it is concluded that both hKCNE4 and mKCNE4 have a drastic inhibitory impact on both hKCNQ1 and mKCNQ1 currents.
- A variant in intron 1 of the KCNQ1 gene (rs757092, +1.7 ms/allele) is associated with QT interval length.
- hydrophobic or aromatic residues involved in S6 transmembrane domain and the base of the pore helix of KCNQ1
- can function as a repolarization reserve when IKr, the rapid delayed rectifier, is reduced by disease or drug and can prevent excessive action potential prolongation and development of arrhythmogenic early afterdepolarizations
- This suggests that genetic determinants located in KCNQ1, KCNE1, KCNH2 and SCN5A influence QTc length in healthy individuals and may represent risk factors for arrhythmias or cardiac sudden death in patients with cardiovascular diseases.
- KCNQ1-A341V single nucleotide polymorphism is associated with greater risk than that reported for large databases of long QT syndrome.
- A variant in intron 1 of the KCNQ1 gene (rs757092, +1.7 ms/allele) is associated with QT interval length.
- interaction of MiRP2-72 with KCNQ1-338; and MinK-59,58 with KCNQ1-339, 340
- Calmodulin binding to KCNQ1 is essential for correct channel folding and assembly and for conferring Ca(2+)-sensitive IKS-current stimulation, which prevents risk of ventricular arrhythmias.
- Calmodulin is a constitutive component of KCNQ1 K+ channels, the most commonly mutated long-QT syndrome (LQTS) locus.
- supports the involvement of voltage-gated K+ channel in cell proliferation
- These results suggest that KCNE2 can functionally couple to KCNQ1 even in the presence of KCNE1.
- patients who reportedly are genotype negative may benefit from re-examination of those regions susceptible to allelic dropout due to primer-disrupting SNPs, particularly exon 15 in KCNQ1.
- Polymorphisms within the KCNQ1 gene are associated with susceptibility Noise-induced hearing loss.
- Long QT syndrome patients with mutations on the HERG gene have greater QT interval prolongation than patients with mutations of the KCNQ1 gene.
- The identification and characterization of mutations in KCNQ1 specific to Jervell and Lange-Nielsen syndrome in a single family are reported.
- Women affected by the common KCNQ1-A341V mutation are at low risk for cardiac events during pregnancy and without excess risk of miscarriage; their infants delivered by C-section because of fetal distress are extremely likely to also be mutation carriers
- no association between atrial fibrillation and single nucleotide polymorphisms
- identification of secondary structure within the KCNE1 C-terminal domain provides structural scaffold to map protein-protein interactions with the pore-forming KCNQ1 subunit as well as the cytoplasmic regulatory proteins anchored to KCNQ1-KCNE complexes.
- Six novel mutations--4 in ANK2, 1 in KCNQ1, and 1 in SCN5A--were found in the patients with torsades de pointes.
- We demonstrated that 9.5% of cases diagnosed as SIDS carry functionally significant genetic variants in LQTS genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CAV3).
- The unique S4 charge paucity of KCNQ1 facilitates its unique conversion to a leak channel by ancillary subunits such as MiRP2.
- provide a mechanistic basis for the pathogenesis of long QT syndrome caused by a splicing mutation in KCNQ1
- External pH can modify current amplitude and biophysical properties of KCNQ1. KCNE subunits work as molecular switches by modulating the pH sensitivity of human KCNQ1.
- In chronic heart failure (CHF), the relative abundance of KCNE1 compared to KCNQ1 genes might contribute to the prolongation of QT interval through reducing the net outward current during the plateau of the action potential.
- KCNQ1 gene expression is dynamically balanced by transcription factor (Sp1) regulation and miRNA repression.
- Human KCNQ1 S140G is likely to be a causative mutation responsible for atrioventricular blocks.
- In type-1 long-QT syndrome, mutations located in the transmembrane portion of the ion channel protein and the degree of ion channel dysfunction caused by the mutations are important independent risk factors influencing its clinical course.
- LQT1 mutation M520R leads to ER-retention and dysfunctional trafficking of the mutant channel resulting in haploinsufficiency.
- In Australians <35 years with a negative autopsy at sudden death, nine DNA sequence variants were identified in the KCNQ1 gene.
- KCNQ1 may play important physiological roles in the mammary epithelium, regulating cell volume and potentially mediating transepithelial K(+) secretion
- postrepolarization refractoriness to I(Ks) (coassembly of KCNQ1 and KCNE1 )can promote wavebreak formation and fibrillatory conduction during pacing and sustained reentry and may have important implications in tachyarrhythmias
- analysis of data from 186 Jervell and Lange-Nielsen syndrome patients; most mutations (90.5%) are on the KCNQ1 gene; mutations on the KCNE1 gene are associated with a more benign course
- We propose that the KCNE2 TMD adopts an alpha-helical secondary structure with one face making intimate contact with the KCNQ1 pore domain, while the contacts with the KCNQ1 voltage-sensing domain appear more dynamic.
- Suggest that KCNE1 stabilizes KCNQ1 S4 segment in the resting state and slows the rate of transition to the active state, while KCNE3 stabilizes the S4 segment in the active state.
- A woman with a mutation of the KCNQ1 gene was found to have long QT syndrome and primary hyperparathyroidism.
- We conclude that fenofibrate inhibits intestinal cAMP-stimulated Cl(-) secretion through a nongenomic mechanism that involves a selective inhibition of basolateral KCNQ1/KCNE3 channel complexes.
- findings together with the identification of several LQT1 mutations in the S6 C-terminus of KCNQ1 underscore the relevance of the S6 C-terminus region in KCNQ1 and IKs channel gating
- The components of the cardiac slow rectifier channel are discussed.
- the hot spot KCNQ1-A341V predicts high clinical severity of long-QT syndrome independently of the ethnic origin of the families
- Functional assessment of a mutation in Kv7.1 identified in a proband with permanent atrial fibrillation and prolonged QT interval is reported.
- 4 of 5 mutations in KCNQ1 that associate with gain-of-function KCNQ1 defects are predicted to share common interface in open state structure between S1 segment of voltage sensor in 1 subunit & both S5 segment & top of pore helix from another subunit.
- KCNE peptides differently modulate the voltage sensor in KCNQ1 K(+) channels.
- genetic perturbations in AKAP9 disrupt its binding to KCNQ1 and have a role in long-QT syndrome
- Almost 300 mutations of KCNQ1 have been identified in patients and a vast majority of the described mutations are linked to the long QT syndrome [review]
- mRNA levels of all HERG1 and KCNQ1 isoforms were asymmetrically distributed within the heart, being more abundant in the right atria and ventricles relative to the left atria and ventricles
- an I313K mutation within the selectivity filter of KCNQ1 results in a dominant-negative loss of channel function, leading to a long QT interval and subsequent syncope
- KCNE4 directly associates with KCNQ1, and can co-associate together with KCNE1 in the same KCNQ1 complex to form a 'triple subunit' complex (KCNE1-KCNQ1-KCNE4).
- differences in autonomic responses might modify clinical severity in long QT syndrome type 1 (LQT1) patients, those with KCNQ1 mutations and reduced I(Ks)
- Propose that the KCNQ1-KCNE1 channel directly interacts with microtubules and that this interaction plays a major role in coupling PKA-dependent phosphorylation of KCNQ1 with I(Ks) activation.
- results suggest that T322M is a novel mutation that caused Romano-Ward syndrome with high intrafamilial variability in the heterozygous carriers and typical Jervell and Lange-Nielsen syndrome in the homozygous carriers within this Chinese family
- W248F KCNQ1 plus KCNE1 channels reconstitute hardly measurable I(Ks) currents in Jervell and Lange Nielsen syndrome
- Cys145 can form disulfide bonds with 40C and 41C, but not E1 42C or 43C of the KCNE1 suggesting that E1 is located between S1, S4, and S6 of three separate Q1 subunits in the IKs channel complex
- data also identify F340 as a critical hub for KCNQ1 gating processes
- A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia.
- arrhythmia-associated mutations in HERG and KCNQ1 were preferentially found at evolutionarily conserved sites and unevenly distributed among functionally conserved domains
- Report cardiac KCNQ1 gene mutations in sudden infant death syndrome.
- findings suggest that altered charge-pair interactions within the voltage sensor module of KCNQ1 subunits may account for slowed I(Ks) deactivation induced by S140 or V141.
- Data suggests that KCNE1 slows KCNQ1 activation by sitting on and restricting the movement of the S4-S5 linker that connects the voltage sensor to the pore domain.
- Six new mutations in the KCNQ1 gene: C2505734T, A2753831C in exons and C2505846A, G2753881A, T2755854C, T2755875G in introns. Detected intronic mutations in patients after MI were related to a worse clinical course and frequent occurrence of SCA
- we identified KCNQ1 (potassium voltage-gated channel, KQT-like subfamily, member 1) to be a strong candidate for conferring susceptibility to type 2 diabetes.
- Our data thus implicate KCNQ1 as a diabetes susceptibility gene in groups of different ancestries
- comparison of clinical course of Caucasian & Japanese long QT type-1 patients matched for mutations in KCNQ1 gene;data indicate ethnic difference in clinical expression of LQTS can be due to difference in frequency of specific mutations in the population
- Modeling of the adrenergic response of the human IKs current (hKCNQ1/hKCNE1) stably expressed in HEK-293 cells.
- The researchers found an association between gene deletions and duplications in the KCNQ1 gene and the risk of long QT syndrome.
- In post-MI patients two two intronic polymorphisms, in KCNQ1, were detected. H558R was associated with an increase in QT dispersion at minimum and maximum heart rate and QT interval prolongation before premature ventricular beats
- our study identified two novel mutations causing LQTS, the L187P mutation in KCNQ1
- Misexpression of its modulatory wild-type beta-subunit XKCNE1 in the Xenopus embryo resulted in a striking alteration of the behavior of one type of embryonic stem cell: the pigment cell lineage of the neural crest.
- Single nucleotide polymorphism in KCNQ1 is associated with type 2 diabetes.
- These results suggest that although it is expressed in nearly all taste bud cells, the function of KCNQ1 is not required for gross taste bud development or peripheral taste transduction pathways.
- Specific KCNE4 domains responsible for the inhibitory effects on heterologously expressed KCNQ1 were identified. The KCNE4 C-terminus is critical for KCNQ1 modulation and physically interacts with KCNQ1.
- Changes of amino acid residue at the pore center of KCNQ1 may alter the channel function but this depends on the electrical charge or the size of amino acid residue.
- the extracellular flank of the transmembrane helix of E1 is located between S1 and S6 on different subunits of Q1 (Q1 TM helics).
- These results indicate that the F275S KCNQ1 mutation leads to impaired polypeptide trafficking that in turn leads to reduction of channel ion currents and altered gating kinetics.