Details for: KCNQ1

Gene ID: 3784

Symbol: KCNQ1

Ensembl ID: ENSG00000053918

Description: potassium voltage-gated channel subfamily Q member 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 3.03
    Marker Score: 2333
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 2.64
    Marker Score: 15859
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.61
    Marker Score: 1528
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 2.43
    Marker Score: 3269
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 2.37
    Marker Score: 6791.5
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 2.15
    Marker Score: 899
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.13
    Marker Score: 8921
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 2.13
    Marker Score: 1058
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 2.07
    Marker Score: 46178
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.94
    Marker Score: 608
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.91
    Marker Score: 6796
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.85
    Marker Score: 2242.5
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.84
    Marker Score: 968
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.8
    Marker Score: 1989
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.79
    Marker Score: 1243
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.72
    Marker Score: 30455
  • Cell Name: interneuron (CL0000099)
    Fold Change: 1.69
    Marker Score: 774
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.69
    Marker Score: 462
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.66
    Marker Score: 3902
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.61
    Marker Score: 520
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.61
    Marker Score: 1393
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168284
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 1.41
    Marker Score: 508
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.39
    Marker Score: 3735.5
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.32
    Marker Score: 738
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 1.27
    Marker Score: 257
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.27
    Marker Score: 1125
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.17
    Marker Score: 1187
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.17
    Marker Score: 1721
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.16
    Marker Score: 575
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.13
    Marker Score: 2838
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 1.12
    Marker Score: 291
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 1.1
    Marker Score: 317
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.1
    Marker Score: 321
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.1
    Marker Score: 413
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.06
    Marker Score: 1128
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.05
    Marker Score: 334
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.05
    Marker Score: 2998
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.04
    Marker Score: 16658
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.02
    Marker Score: 1953.5
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1
    Marker Score: 2118
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71766
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47990
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.99
    Marker Score: 4118
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30402
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 498
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.96
    Marker Score: 1363
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 453
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.96
    Marker Score: 996
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.95
    Marker Score: 2087
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2408
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.94
    Marker Score: 465
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.92
    Marker Score: 387
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.92
    Marker Score: 1551
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.92
    Marker Score: 992
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2725
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.91
    Marker Score: 287
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.9
    Marker Score: 2266
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.9
    Marker Score: 9292
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.89
    Marker Score: 3712
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 319
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.87
    Marker Score: 4970
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.87
    Marker Score: 1411
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.86
    Marker Score: 436
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.85
    Marker Score: 1922
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.83
    Marker Score: 3373
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.82
    Marker Score: 1957
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.81
    Marker Score: 622
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.8
    Marker Score: 802
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.8
    Marker Score: 319
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.79
    Marker Score: 1312
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.79
    Marker Score: 192
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.76
    Marker Score: 946
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.76
    Marker Score: 369
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.75
    Marker Score: 238
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 388
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.74
    Marker Score: 899
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.74
    Marker Score: 274
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.73
    Marker Score: 768
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.73
    Marker Score: 1327
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.72
    Marker Score: 184
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.72
    Marker Score: 476.5
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.71
    Marker Score: 645
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.71
    Marker Score: 5971
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7
    Marker Score: 2943
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.69
    Marker Score: 218
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 176
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.69
    Marker Score: 198
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.68
    Marker Score: 399
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.67
    Marker Score: 779
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.66
    Marker Score: 662
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.66
    Marker Score: 459
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.65
    Marker Score: 428
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.64
    Marker Score: 234
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 0.62
    Marker Score: 383
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.61
    Marker Score: 34320
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.6
    Marker Score: 954
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.59
    Marker Score: 545
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.58
    Marker Score: 925

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Other Information

**Key characteristics:** - The KCNQ1 gene is located on chromosome 19. - It is a member of the potassium voltage-gated channel subfamily Q. - The protein is a transmembrane protein with a molecular weight of approximately 140 kDa. - It is expressed in a variety of cell types, including cardiac cells, renal cells, and retinal cells. **Pathways and functions:** The KCNQ1 gene product is a potassium voltage-gated channel protein. The protein is expressed in cardiac cells, where it is thought to play a role in cardiac conduction. The protein is also expressed in renal cells, where it is thought to regulate potassium transport. **Clinical significance:** Mutations in the KCNQ1 gene have been linked to a number of human diseases, including hyperkalemia, heart failure, and kidney failure. These diseases are caused by mutations that disrupt the function of the KCNQ1 protein. **Additional information:** - The KCNQ1 gene is a highly conserved gene, with a similar gene found in mammals, birds, and reptiles. - The protein is a member of the potassium channel superfamily, which is the largest family of ion channels in the human genome. - The KCNQ1 gene is a promising target for the treatment of a variety of human diseases.

Genular Protein ID: 2016361307

Symbol: KCNQ1_HUMAN

Name: N/A

UniProtKB Accession Codes:

P51787 O00347 O60607 O94787 Q14D14 Q7Z6G9 Q92960 Q9UMN8 Q9UMN9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 2 DIP 2 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 8 DrugCentral 1 EMBL 22 EMDB 6 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 80 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 11 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 27 PDBsum 19 PRINTS 3 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 3 RefSeq 2 SAM 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9312006

Title: Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.

PubMed ID: 9312006

DOI: 10.1093/emboj/16.17.5472

PubMed ID: 9305853

Title: Suppression of slow delayed rectifier current by a truncated isoform of KvLQT1 cloned from normal human heart.

PubMed ID: 9305853

DOI: 10.1074/jbc.272.39.24109

PubMed ID: 9799083

Title: Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome.

PubMed ID: 9799083

DOI: 10.1007/s004390050819

PubMed ID: 10024302

Title: Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.

PubMed ID: 10024302

DOI: 10.1161/01.res.84.3.290

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9108097

Title: KvLQT1, a voltage-gated potassium channel responsible for human cardiac arrhythmias.

PubMed ID: 9108097

DOI: 10.1073/pnas.94.8.4017

PubMed ID: 8900283

Title: Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel.

PubMed ID: 8900283

DOI: 10.1038/384080a0

PubMed ID: 8528244

Title: Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.

PubMed ID: 8528244

DOI: 10.1038/ng0196-17

PubMed ID: 10654932

Title: A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly.

PubMed ID: 10654932

DOI: 10.1093/emboj/19.3.332

PubMed ID: 11101505

Title: KCNE2 confers background current characteristics to the cardiac KCNQ1 potassium channel.

PubMed ID: 11101505

DOI: 10.1093/emboj/19.23.6326

PubMed ID: 10713961

Title: Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors.

PubMed ID: 10713961

DOI: 10.1111/j.1469-7793.2000.t01-2-00349.x

PubMed ID: 10646604

Title: A constitutively open potassium channel formed by KCNQ1 and KCNE3.

PubMed ID: 10646604

DOI: 10.1038/35003200

PubMed ID: 12324418

Title: KCNE5 induces time- and voltage-dependent modulation of the KCNQ1 current.

PubMed ID: 12324418

DOI: 10.1016/s0006-3495(02)73961-1

PubMed ID: 11799244

Title: Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel.

PubMed ID: 11799244

DOI: 10.1126/science.1066843

PubMed ID: 19687231

Title: Distinct subdomains of the KCNQ1 S6 segment determine channel modulation by different KCNE subunits.

PubMed ID: 19687231

DOI: 10.1085/jgp.200910234

PubMed ID: 20533308

Title: Impact of KCNE subunits on KCNQ1 (Kv7.1) channel membrane surface targeting.

PubMed ID: 20533308

DOI: 10.1002/jcp.22265

PubMed ID: 21228319

Title: Kv7.1 surface expression is regulated by epithelial cell polarization.

PubMed ID: 21228319

DOI: 10.1152/ajpcell.00390.2010

PubMed ID: 22024150

Title: Deubiquitylating enzyme USP2 counteracts Nedd4-2-mediated downregulation of KCNQ1 potassium channels.

PubMed ID: 22024150

DOI: 10.1016/j.hrthm.2011.10.026

PubMed ID: 23529131

Title: Oestrogen promotes KCNQ1 potassium channel endocytosis and postendocytic trafficking in colonic epithelium.

PubMed ID: 23529131

DOI: 10.1113/jphysiol.2013.251678

PubMed ID: 24855057

Title: Functional assembly of Kv7.1/Kv7.5 channels with emerging properties on vascular muscle physiology.

PubMed ID: 24855057

DOI: 10.1161/atvbaha.114.303801

PubMed ID: 24595108

Title: KCNQ1, KCNE2, and Na+-coupled solute transporters form reciprocally regulating complexes that affect neuronal excitability.

PubMed ID: 24595108

DOI: 10.1126/scisignal.2005025

PubMed ID: 18165683

Title: The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction.

PubMed ID: 18165683

DOI: 10.1074/jbc.m707541200

PubMed ID: 19693805

Title: 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.

PubMed ID: 19693805

DOI: 10.1002/pro.224

PubMed ID: 25441029

Title: Structural basis of a Kv7.1 potassium channel gating module: studies of the intracellular c-terminal domain in complex with calmodulin.

PubMed ID: 25441029

DOI: 10.1016/j.str.2014.07.016

PubMed ID: 9323054

Title: Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.

PubMed ID: 9323054

DOI: 10.1161/01.cir.96.6.1733

PubMed ID: 10704188

Title: Jervell and Lange-Nielsen syndrome: a Norwegian perspective.

PubMed ID: 10704188

DOI: 10.1002/(sici)1096-8628(19990924)89:3<137::aid-ajmg4>3.3.co;2-3

PubMed ID: 8872472

Title: KVLQT1 mutations in three families with familial or sporadic long QT syndrome.

PubMed ID: 8872472

DOI: 10.1093/hmg/5.9.1319

PubMed ID: 8818942

Title: Evidence of a long QT founder gene with varying phenotypic expression in South African families.

PubMed ID: 8818942

DOI: 10.1136/jmg.33.7.567

PubMed ID: 9024139

Title: Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.

PubMed ID: 9024139

DOI: 10.1161/01.cir.95.3.565

PubMed ID: 9386136

Title: KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.

PubMed ID: 9386136

DOI: 10.1161/01.cir.96.9.2778

PubMed ID: 9272155

Title: The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene.

PubMed ID: 9272155

DOI: 10.1007/s004390050516

PubMed ID: 9302275

Title: Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.

PubMed ID: 9302275

DOI: 10.1093/hmg/6.11.1943

PubMed ID: 9570196

Title: New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.

PubMed ID: 9570196

DOI: 10.1161/01.cir.97.13.1264

PubMed ID: 9641694

Title: A recessive variant of the Romano-Ward Long-QT syndrome?

PubMed ID: 9641694

DOI: 10.1161/01.cir.97.24.2420

PubMed ID: 9781056

Title: Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome.

PubMed ID: 9781056

DOI: 10.1038/sj.ejhg.5200165

PubMed ID: 9693036

Title: Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

PubMed ID: 9693036

DOI: 10.1006/geno.1998.5361

PubMed ID: 9482580

Title: 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.

PubMed ID: 9482580

DOI: 10.1002/(sici)1098-1004(1998)11:2<158::aid-humu9>3.0.co;2-f

PubMed ID: 9702906

Title: A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family.

PubMed ID: 9702906

DOI: 10.1203/00006450-199808000-00002

PubMed ID: 10090886

Title: Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias.

PubMed ID: 10090886

DOI: 10.1086/302346

PubMed ID: 10367071

Title: Congenital long QT syndrome. The value of genetics in prognostic evaluation.

PubMed ID: 10367071

PubMed ID: 9927399

Title: Low penetrance in the long-QT syndrome: clinical impact.

PubMed ID: 9927399

DOI: 10.1161/01.cir.99.4.529

PubMed ID: 10482963

Title: Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.

PubMed ID: 10482963

DOI: 10.1038/sj.ejhg.5200323

PubMed ID: 10220144

Title: Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

PubMed ID: 10220144

DOI: 10.1002/(sici)1098-1004(1999)13:4<301::aid-humu7>3.0.co;2-v

PubMed ID: 10220146

Title: High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants.

PubMed ID: 10220146

DOI: 10.1002/(sici)1098-1004(1999)13:4<318::aid-humu9>3.0.co;2-f

PubMed ID: 10409658

Title: Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits.

PubMed ID: 10409658

DOI: 10.1074/jbc.274.30.21063

PubMed ID: 10728423

Title: Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.

PubMed ID: 10728423

DOI: 10.1016/s0008-6363(99)00411-3

PubMed ID: 10973849

Title: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

PubMed ID: 10973849

DOI: 10.1161/01.cir.102.10.1178

PubMed ID: 12442276

Title: KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.

PubMed ID: 12442276

DOI: 10.1002/humu.9085

PubMed ID: 12522251

Title: KCNQ1 gain-of-function mutation in familial atrial fibrillation.

PubMed ID: 12522251

DOI: 10.1126/science.1077771

PubMed ID: 15159330

Title: Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.

PubMed ID: 15159330

DOI: 10.1161/01.cir.0000130409.72142.fe

PubMed ID: 15840476

Title: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PubMed ID: 15840476

DOI: 10.1016/j.hrthm.2005.01.020

PubMed ID: 16414944

Title: Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

PubMed ID: 16414944

DOI: 10.1001/jama.294.23.2975

PubMed ID: 16922724

Title: Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

PubMed ID: 16922724

DOI: 10.1111/j.1399-0004.2006.00671.x

PubMed ID: 18400097

Title: Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family.

PubMed ID: 18400097

DOI: 10.1186/1471-2350-9-24

PubMed ID: 18441444

Title: A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family.

PubMed ID: 18441444

DOI: 10.1253/circj.72.687

PubMed ID: 18711367

Title: Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus.

PubMed ID: 18711367

DOI: 10.1038/ng.207

PubMed ID: 18711366

Title: SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations.

PubMed ID: 18711366

DOI: 10.1038/ng.208

PubMed ID: 24390345

Title: Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.

PubMed ID: 24390345

DOI: 10.1038/nature12828

PubMed ID: 19808498

Title: Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.

PubMed ID: 19808498

DOI: 10.1161/circep.109.850149

PubMed ID: 19716085

Title: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PubMed ID: 19716085

DOI: 10.1016/j.hrthm.2009.05.021

PubMed ID: 19540844

Title: Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1.

PubMed ID: 19540844

DOI: 10.1016/j.yjmcc.2009.06.009

PubMed ID: 21241800

Title: Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability.

PubMed ID: 21241800

DOI: 10.1016/j.bbadis.2011.01.008

PubMed ID: 25139741

Title: Long-QT mutation p.K557E-Kv7.1: dominant-negative suppression of IKs, but preserved cAMP-dependent up-regulation.

PubMed ID: 25139741

DOI: 10.1093/cvr/cvu191

PubMed ID: 24269949

Title: A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation.

PubMed ID: 24269949

DOI: 10.1016/j.hrthm.2013.11.021

PubMed ID: 24184248

Title: A molecular mechanism for adrenergic-induced long QT syndrome.

PubMed ID: 24184248

DOI: 10.1016/j.jacc.2013.08.1648

PubMed ID: 25037568

Title: Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP(2).

PubMed ID: 25037568

DOI: 10.1242/jcs.147033

PubMed ID: 24713462

Title: A590T mutation in KCNQ1 C-terminal helix D decreases IKs channel trafficking and function but not Yotiao interaction.

PubMed ID: 24713462

DOI: 10.1016/j.yjmcc.2014.03.019

PubMed ID: 25705178

Title: Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

PubMed ID: 25705178

DOI: 10.3389/fncel.2015.00032

PubMed ID: 34398675

Title: Recurrent pregnancy loss and concealed Long-QT syndrome.

PubMed ID: 34398675

DOI: 10.1161/jaha.121.021236

Sequence Information:

  • Length: 676
  • Mass: 74699
  • Checksum: ADFCA9E2B9763B21
  • Sequence:
    • MAAASSPPRA ERKRWGWGRL PGARRGSAGL AKKCPFSLEL AEGGPAGGAL YAPIAPGAPG 
PAPPASPAAP AAPPVASDLG PRPPVSLDPR VSIYSTRRPV LARTHVQGRV YNFLERPTGW 
KCFVYHFAVF LIVLVCLIFS VLSTIEQYAA LATGTLFWME IVLVVFFGTE YVVRLWSAGC 
RSKYVGLWGR LRFARKPISI IDLIVVVASM VVLCVGSKGQ VFATSAIRGI RFLQILRMLH 
VDRQGGTWRL LGSVVFIHRQ ELITTLYIGF LGLIFSSYFV YLAEKDAVNE SGRVEFGSYA 
DALWWGVVTV TTIGYGDKVP QTWVGKTIAS CFSVFAISFF ALPAGILGSG FALKVQQKQR 
QKHFNRQIPA AASLIQTAWR CYAAENPDSS TWKIYIRKAP RSHTLLSPSP KPKKSVVVKK 
KKFKLDKDNG VTPGEKMLTV PHITCDPPEE RRLDHFSVDG YDSSVRKSPT LLEVSMPHFM 
RTNSFAEDLD LEGETLLTPI THISQLREHH RATIKVIRRM QYFVAKKKFQ QARKPYDVRD 
VIEQYSQGHL NLMVRIKELQ RRLDQSIGKP SLFISVSEKS KDRGSNTIGA RLNRVEDKVT 
QLDQRLALIT DMLHQLLSLH GGSTPGSGGP PREGGAHITQ PCGSGGSVDP ELFLPSNTLP 
TYEQLTVPRR GPDEGS

Genular Protein ID: 917417349

Symbol: Q96AI9_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q96AI9

Database IDs:

ARBA 5 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 2 GO 2 Gene3D 2 Genevisible 1 GenomeRNAi 1 InterPro 4 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 2 PeptideAtlas 1 Pfam 4 RefSeq 1 SAM 2 SUPFAM 1

Sequence Information:

  • Length: 392
  • Mass: 43727
  • Checksum: E0E8CBF2C56FF62C
  • Sequence:
    • KDAVNESGRV EFGSYADALW WGVVTVTTIG YGDKVPQTWV GKTIASCFSV FAISFFALPA 
GILGSGFALK VQQKQRQKHF NRQIPAAASL IQTAWRCYAA ENPDSSTWKI YIRKAPRSHT 
LLSPSPKPKK SVVVKKKKFK LDKDNGVTPG EKMLTVPHIT CDPPEERRLD HFSVDGYDSS 
VRKSPTLLEV SMPHFMRTNS FAEDLDLEGE TLLTPITHIS QLREHHRATI KVIRRMQYFV 
AKKKFQQARK PYDVRDVIEQ YSQGHLNLMV RIKELQRRLD QSIGKPSLFI SVSEKSKDRG 
SNTIGARLNR VEDKVTQLDQ RLALITDMLH QLLSLHGGST PGSGGPPREG GAHITQPCGS 
GGSVDPELFL PSNTLPTYEQ LTVPRRGPDE GS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.