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P51787 (KCNQ1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 159. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Potassium voltage-gated channel subfamily KQT member 1
Alternative name(s):
IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1
KQT-like 1
Voltage-gated potassium channel subunit Kv7.1
Gene names
Name:KCNQ1
Synonyms:KCNA8, KCNA9, KVLQT1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length676 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probably important in cardiac repolarization. Associates with KCNE1 (MinK) to form the I(Ks) cardiac potassium current. Elicits a rapidly activating, potassium-selective outward current. Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current in CHO cells in which cloned KCNQ1/KCNE1 channels were coexpressed with M1 muscarinic receptors. May associate also with KCNE3 (MiRP2) to form the potassium channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions, which is reduced in cystic fibrosis and pathologically stimulated in cholera and other forms of secretory diarrhea.

Subunit structure

Heterotetramer with KCNE1 (MinK) or KCNE3 (MiRP2). Interacts with CALM. Ref.11 Ref.12 Ref.13

Subcellular location

Cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein Ref.13.

Tissue specificity

Abundantly expressed in heart, pancreas, prostate, kidney, small intestine and peripheral blood leukocytes. Less abundant in placenta, lung, spleen, colon, thymus, testis and ovaries.

Domain

The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Ref.11

Involvement in disease

Long QT syndrome 1 (LQT1) [MIM:192500]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.3 Ref.7 Ref.9 Ref.13 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.25 Ref.26 Ref.27 Ref.29 Ref.30 Ref.31 Ref.32 Ref.33 Ref.34 Ref.36 Ref.37 Ref.40 Ref.44 Ref.45

Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400]: An autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.24 Ref.28 Ref.36

Atrial fibrillation, familial, 3 (ATFB3) [MIM:607554]: An autosomal dominant form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.38

Short QT syndrome 2 (SQT2) [MIM:609621]: A heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It causes syncope and sudden death.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.39

Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.41 Ref.42 Ref.43

Miscellaneous

Mutagenesis experiments were carried out by expressing in Xenopus oocytes or COS-7 cells KCNQ1 mutants either individually (homomultimers) or in combination with both wild-type KCNQ1 (mut/wt homomultimers) and minK (heteromultimers).

Sequence similarities

Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.1/KCNQ1 sub-subfamily. [View classification]

Sequence caution

The sequence BAA34739.1 differs from that shown. Reason: Frameshift at positions 129 and 159.

Ontologies

Keywords
   Biological processIon transport
Potassium transport
Transport
   Cellular componentCell membrane
Cytoplasmic vesicle
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseAtrial fibrillation
Deafness
Diabetes mellitus
Disease mutation
Long QT syndrome
Short QT syndrome
   DomainTransmembrane
Transmembrane helix
   LigandCalmodulin-binding
Potassium
   Molecular functionIon channel
Potassium channel
Voltage-gated channel
   PTMGlycoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processatrial cardiac muscle cell action potential

Inferred from mutant phenotype Ref.38. Source: BHF-UCL

cardiac muscle contraction

Inferred from mutant phenotype Ref.7. Source: BHF-UCL

cardiovascular system development

Inferred from electronic annotation. Source: Ensembl

cellular response to cAMP

Inferred from direct assay PubMed 11299204. Source: BHF-UCL

cellular response to drug

Inferred from direct assay Ref.5. Source: BHF-UCL

cellular response to epinephrine stimulus

Traceable author statement PubMed 11799244. Source: BHF-UCL

gene silencing

Inferred from electronic annotation. Source: Ensembl

male gonad development

Inferred from electronic annotation. Source: Ensembl

membrane repolarization during action potential

Inferred from direct assay PubMed 11299204Ref.6. Source: BHF-UCL

membrane repolarization during cardiac muscle cell action potential

Inferred from mutant phenotype Ref.7. Source: BHF-UCL

negative regulation of insulin secretion

Inferred from electronic annotation. Source: Ensembl

positive regulation of gastric acid secretion

Inferred from electronic annotation. Source: Ensembl

positive regulation of potassium ion transmembrane transport

Inferred from direct assay Ref.6. Source: BHF-UCL

potassium ion export

Inferred from direct assay PubMed 10400998PubMed 17289006Ref.6. Source: BHF-UCL

potassium ion transmembrane transport

Inferred from direct assay PubMed 11299204PubMed 9354802. Source: BHF-UCL

regulation of atrial cardiac muscle cell membrane repolarization

Inferred from mutant phenotype Ref.38. Source: BHF-UCL

regulation of gene expression by genetic imprinting

Inferred from electronic annotation. Source: Ensembl

regulation of heart contraction

Inferred by curator Ref.6. Source: BHF-UCL

regulation of heart rate by cardiac conduction

Inferred from mutant phenotype Ref.7. Source: BHF-UCL

regulation of membrane repolarization

Inferred from direct assay PubMed 11299204. Source: BHF-UCL

regulation of ventricular cardiac muscle cell membrane repolarization

Inferred from mutant phenotype Ref.7. Source: BHF-UCL

sensory perception of sound

Traceable author statement PubMed 9020846. Source: ProtInc

synaptic transmission

Traceable author statement. Source: Reactome

ventricular cardiac muscle cell action potential

Inferred from mutant phenotype Ref.7. Source: BHF-UCL

   Cellular_componentbasolateral plasma membrane

Inferred from direct assay PubMed 21957902. Source: BHF-UCL

early endosome

Inferred from direct assay PubMed 21957902. Source: BHF-UCL

late endosome

Inferred from direct assay PubMed 21957902. Source: BHF-UCL

lysosome

Inferred from direct assay PubMed 21957902. Source: BHF-UCL

plasma membrane

Traceable author statement. Source: Reactome

sarcolemma

Inferred from electronic annotation. Source: Ensembl

voltage-gated potassium channel complex

Inferred from direct assay PubMed 17289006. Source: BHF-UCL

zymogen granule membrane

Inferred from electronic annotation. Source: Ensembl

   Molecular_functioncalmodulin binding

Inferred from direct assay Ref.13. Source: BHF-UCL

delayed rectifier potassium channel activity

Inferred from direct assay Ref.38. Source: BHF-UCL

ion channel binding

Inferred from physical interaction PubMed 12324418. Source: BHF-UCL

outward rectifier potassium channel activity

Inferred from electronic annotation. Source: Ensembl

protein kinase A catalytic subunit binding

Inferred from direct assay PubMed 11799244. Source: BHF-UCL

protein kinase A regulatory subunit binding

Inferred from direct assay PubMed 11799244. Source: BHF-UCL

protein phosphatase 1 binding

Inferred from direct assay PubMed 11799244. Source: BHF-UCL

scaffold protein binding

Inferred from physical interaction PubMed 11799244. Source: BHF-UCL

voltage-gated potassium channel activity

Inferred from direct assay PubMed 17289006Ref.6. Source: BHF-UCL

voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization

Inferred from mutant phenotype Ref.38. Source: BHF-UCL

voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization

Inferred from mutant phenotype Ref.38. Source: BHF-UCL

voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization

Inferred from mutant phenotype Ref.7. Source: BHF-UCL

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

KCNE1P153824EBI-359667,EBI-7043557

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: P51787-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P51787-2)

Also known as: TKvLQT1;

The sequence of this isoform differs from the canonical sequence as follows:
     1-127: Missing.
     128-129: AV → MD
Note: Truncated isoform that is non-functional alone but modulatory when coexpressed with the full-length isoform 1.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 676676Potassium voltage-gated channel subfamily KQT member 1
PRO_0000054022

Regions

Transmembrane122 – 14221Helical; Name=Segment S1; Potential
Topological domain143 – 1475Extracellular Potential
Transmembrane148 – 16821Helical; Name=Segment S2; Potential
Topological domain169 – 19628Cytoplasmic Potential
Transmembrane197 – 21721Helical; Name=Segment S3; Potential
Topological domain218 – 2258Extracellular Potential
Transmembrane226 – 24823Helical; Voltage-sensor; Name=Segment S4; Potential
Topological domain249 – 26113Cytoplasmic Potential
Transmembrane262 – 28221Helical; Name=Segment S5; Potential
Topological domain283 – 29917Extracellular Potential
Intramembrane300 – 32021Pore-forming; Name=Segment H5; Potential
Topological domain321 – 3277Extracellular Potential
Transmembrane328 – 34821Helical; Name=Segment S6; Potential
Topological domain349 – 676328Cytoplasmic Potential
Region589 – 62032Subunits assembly domain
Motif312 – 3176Selectivity filter By similarity

Amino acid modifications

Glycosylation2891N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 127127Missing in isoform 2.
VSP_000981
Alternative sequence128 – 1292AV → MD in isoform 2.
VSP_000982
Natural variant71 – 733Missing in LQT1.
VAR_009917
Natural variant731P → T in LQT1. Ref.40
VAR_068287
Natural variant1111Y → C in LQT1.
VAR_009918
Natural variant1151E → G in LQT1. Ref.40
VAR_068288
Natural variant1221C → Y in LQT1. Ref.40
VAR_068289
Natural variant1331V → I in LQT1. Ref.40
VAR_068290
Natural variant1361C → F in LQT1. Ref.40
VAR_068291
Natural variant1401S → G in ATFB3; gain of function. Ref.38
VAR_015742
Natural variant1571F → C in LQT1. Ref.33
VAR_008124
Natural variant1601E → K in LQT1. Ref.40
VAR_009919
Natural variant167 – 1682FG → W in LQT1.
VAR_001515
Natural variant1681G → R in LQT1. Ref.25 Ref.40
Corresponds to variant rs179489 [ dbSNP | Ensembl ].
VAR_001516
Natural variant1741R → C in LQT1. Ref.40
VAR_001517
Natural variant1741R → H in LQT1. Ref.29
VAR_008939
Natural variant1781A → P in LQT1; loss of channel activity. Ref.9
VAR_001518
Natural variant1781A → T in LQT1. Ref.18
VAR_009920
Natural variant1791G → S in LQT1.
VAR_009921
Natural variant1841Y → S in LQT1. Ref.32
VAR_008125
Natural variant1891G → R in LQT1; familial sudden death. Ref.32
VAR_001519
Natural variant1901R → Q in LQT1; loss of channel activity. Ref.36 Ref.40
VAR_001520
Natural variant1941A → P in LQT1.
VAR_009922
Natural variant2041I → F in LQT1. Ref.40
VAR_068292
Natural variant2161G → R in LQT1. Ref.20
VAR_001521
Natural variant2251S → L in LQT1. Ref.30 Ref.40
VAR_009923
Natural variant2351I → N in LQT1. Ref.40
VAR_068293
Natural variant2421D → N in LQT1. Ref.40
VAR_008940
Natural variant2431R → C in LQT1; slower rate of activation and voltage dependence of activation-inactivation shifted to more positive potentials (homomultimers); channels non-functional (heteromultimers). Ref.34 Ref.40
VAR_010933
Natural variant2431R → H in JLNS1; minor changes of wt current (homomultimers); positive voltage shift of the channel activation (heteromultimers). Ref.28 Ref.36
VAR_008941
Natural variant2481W → R in LQT1; slower rate of activation and voltage dependence of activation-inactivation shifted to more positive potentials (homomultimers); channels non-functional (heteromultimers). Ref.34
VAR_008942
Natural variant2501L → H in LQT1.
VAR_008943
Natural variant254 – 2563Missing in LQT1.
VAR_068294
Natural variant2541V → M in LQT1; associated with M-417 in a patient. Ref.17 Ref.40
VAR_001522
Natural variant2591R → C in LQT1. Ref.40
VAR_068295
Natural variant2591R → L in LQT1. Ref.40
VAR_068296
Natural variant2611E → D in JLNS1. Ref.40
VAR_008944
Natural variant2611E → K in LQT1; loss of channel activity and no interaction with wt KVLQT1 or MINK subunits. Ref.34
VAR_001523
Natural variant2661L → P in LQT1. Ref.40
VAR_009924
Natural variant2691G → D in LQT1. Ref.40
VAR_001524
Natural variant2691G → S in LQT1. Ref.40
VAR_009925
Natural variant2731L → F in LQT1; functional channel with reduced macroscopic conductance (homomultimers); alteration of normal KVLQT1 function (mut/wt homomultimers). Ref.9 Ref.40
VAR_001525
Natural variant2731L → R in LQT1. Ref.40
VAR_068297
Natural variant2761Missing in LQT1. Ref.40
VAR_068298
Natural variant2771S → L in LQT1; loss of function mutation acting in a dominant-negative manner. Ref.40 Ref.45
VAR_065777
Natural variant2781Y → H in LQT1. Ref.40
VAR_068299
Natural variant2811Y → C in LQT1. Ref.30
VAR_008945
Natural variant2901E → K in LQT1. Ref.40
VAR_068300
Natural variant2921G → D in LQT1. Ref.40
VAR_068301
Natural variant2931R → C in LQT1. Ref.40
VAR_068302
Natural variant3001A → T in LQT1. Ref.23
VAR_001526
Natural variant3021A → V in LQT1. Ref.40
VAR_068303
Natural variant3041W → R in LQT1. Ref.40
VAR_068304
Natural variant3051W → S in JLNS1. Ref.24 Ref.40
VAR_001527
Natural variant3061G → R in LQT1.
VAR_001528
Natural variant3071V → L in SQT2; gain of function. Ref.39
VAR_023841
Natural variant3091T → R in LQT1.
VAR_001529
Natural variant3101V → I in LQT1.
VAR_009926
Natural variant3111T → I in LQT1. Ref.26
VAR_009927
Natural variant3121T → I in LQT1; loss of channel activity. Ref.9 Ref.40
VAR_001530
Natural variant3131I → M in LQT1. Ref.18
VAR_001531
Natural variant3141G → D in LQT1. Ref.40
VAR_068305
Natural variant3141G → R in LQT1. Ref.40
VAR_068306
Natural variant3141G → S in LQT1. Ref.15 Ref.25 Ref.32 Ref.40
VAR_001532
Natural variant3151Y → C in LQT1. Ref.25 Ref.30 Ref.40
VAR_008946
Natural variant3151Y → S in LQT1. Ref.32
VAR_001533
Natural variant3161G → R in LQT1. Ref.40
VAR_068307
Natural variant3171D → N in LQT1. Ref.21 Ref.26
VAR_001534
Natural variant3181K → N in LQT1. Ref.25
VAR_008947
Natural variant3201P → A in LQT1; loss of function mutation acting in a dominant-negative manner. Ref.44
VAR_001535
Natural variant3201P → H in LQT1; loss of function mutation acting in a dominant-negative manner. Ref.44
VAR_065778
Natural variant3221T → A in LQT1. Ref.40
VAR_068308
Natural variant3251G → R in LQT1. Ref.18
VAR_001536
Natural variant3391Missing in LQT1. Ref.27 Ref.40
VAR_001537
Natural variant3411A → E in LQT1.
Corresponds to variant rs12720459 [ dbSNP | Ensembl ].
VAR_001538
Natural variant3411A → V in LQT1. Ref.15 Ref.16 Ref.22 Ref.40
Corresponds to variant rs12720459 [ dbSNP | Ensembl ].
VAR_001539
Natural variant3421L → F in LQT1.
VAR_001540
Natural variant3431P → S in LQT1. Ref.40
VAR_068309
Natural variant3441A → E in LQT1. Ref.40
VAR_068310
Natural variant3441A → V in LQT1. Ref.40
VAR_001541
Natural variant3451G → E in LQT1. Ref.40
VAR_001542
Natural variant3451G → R in LQT1; familial sudden death. Ref.32
VAR_008126
Natural variant3491S → W in LQT1. Ref.40
VAR_009928
Natural variant3531L → P in LQT1. Ref.25 Ref.40
VAR_009180
Natural variant3621K → R in LQT1. Ref.40
Corresponds to variant rs12720458 [ dbSNP | Ensembl ].
VAR_048025
Natural variant3661R → P in LQT1. Ref.18
VAR_001543
Natural variant3661R → Q in LQT1.
VAR_009929
Natural variant3661R → W in LQT1. Ref.25 Ref.40
VAR_008948
Natural variant3711A → T in LQT1.
VAR_001544
Natural variant3731S → P in LQT1. Ref.32
VAR_008127
Natural variant3741L → H in LQT1. Ref.40
VAR_068311
Natural variant3801R → S in LQT1. Ref.40
VAR_068312
Natural variant3891S → Y in LQT1. Ref.40
VAR_068313
Natural variant3911T → I in LQT1.
VAR_009930
Natural variant3921W → R in LQT1. Ref.32
VAR_008128
Natural variant3931K → N.
Corresponds to variant rs12720457 [ dbSNP | Ensembl ].
VAR_048026
Natural variant4171V → M in LQT1; associated with M-254 in a patient. Ref.17
VAR_010934
Natural variant4481P → R in LQT1.
Corresponds to variant rs12720449 [ dbSNP | Ensembl ].
VAR_009931
Natural variant4521R → W in LQT1. Ref.40
VAR_068314
Natural variant5241V → G in LQT1. Ref.40
VAR_068315
Natural variant5251A → T in LQT1. Ref.31
VAR_009181
Natural variant5261K → E in LQT1. Ref.40
VAR_068316
Natural variant5331R → W in LQT1; minor changes of wt current (homomultimers); positive voltage shift of the channel activation (heteromultimers). Ref.36
VAR_008949
Natural variant5391R → W in LQT1; minor changes of wt current (homomultimers); positive voltage shift of the channel activation (heteromultimers). Ref.36 Ref.40
VAR_008950
Natural variant5461S → L in LQT1. Ref.40
VAR_068317
Natural variant5551R → C in LQT1; associated with a fruste phenotype. Ref.40
VAR_001545
Natural variant5551R → H in LQT1. Ref.40
VAR_068318
Natural variant5661S → F in LQT1.
VAR_009932
Natural variant5661S → Y in LQT1. Ref.40
VAR_068319
Natural variant5671I → S in LQT1. Ref.40
VAR_068320
Natural variant5681G → R in LQT1. Ref.40
VAR_068321
Natural variant5831R → C in LQT1.
Corresponds to variant rs17221854 [ dbSNP | Ensembl ].
VAR_009933
Natural variant5871T → M in LQT1. Ref.3 Ref.40
VAR_008951
Natural variant5891G → D in LQT1; reduced cell surface expression and strongly reduced potassium current. Ref.13
VAR_008952
Natural variant5901A → T in LQT1. Ref.40
VAR_068322
Natural variant5911R → H in LQT1. Ref.3 Ref.40
VAR_008953
Natural variant5941R → Q in LQT1. Ref.40
VAR_009934
Natural variant6191L → M in LQT1. Ref.40
VAR_068323
Natural variant6261G → S in LQT1. Ref.40
VAR_068324
Natural variant6431G → S. Ref.2
Corresponds to variant rs1800172 [ dbSNP | Ensembl ].
VAR_008954

Experimental info

Mutagenesis5891G → M: No effect. Ref.13
Mutagenesis5901A → W: Reduced cell surface expression and strongly reduced potassium current. Ref.13
Mutagenesis5931N → G: Reduced cell surface expression and moderately reduced potassium current. Ref.13
Sequence conflict64 – 652PA → HV in CAB44649. Ref.3
Sequence conflict96 – 10611TRRPVLARTHV → METRGSRLTGG in AAC51781. Ref.6
Sequence conflict3701Missing in AAC05705. Ref.8
Sequence conflict607 – 6082AL → VI in AAM94040. Ref.4
Sequence conflict619 – 64426LHGGS…QPCGS → MQQGGPTCNSRSQVVASNE in AAM94040. Ref.4
Sequence conflict648 – 6492VD → IN in AAM94040. Ref.4
Sequence conflict6581T → S in AAM94040. Ref.4
Sequence conflict669 – 6702RR → QT in AAM94040. Ref.4

Secondary structure

... 676
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 15, 1999. Version 3.
Checksum: ADFCA9E2B9763B21

FASTA67674,699
        10         20         30         40         50         60 
MAAASSPPRA ERKRWGWGRL PGARRGSAGL AKKCPFSLEL AEGGPAGGAL YAPIAPGAPG 

        70         80         90        100        110        120 
PAPPASPAAP AAPPVASDLG PRPPVSLDPR VSIYSTRRPV LARTHVQGRV YNFLERPTGW 

       130        140        150        160        170        180 
KCFVYHFAVF LIVLVCLIFS VLSTIEQYAA LATGTLFWME IVLVVFFGTE YVVRLWSAGC 

       190        200        210        220        230        240 
RSKYVGLWGR LRFARKPISI IDLIVVVASM VVLCVGSKGQ VFATSAIRGI RFLQILRMLH 

       250        260        270        280        290        300 
VDRQGGTWRL LGSVVFIHRQ ELITTLYIGF LGLIFSSYFV YLAEKDAVNE SGRVEFGSYA 

       310        320        330        340        350        360 
DALWWGVVTV TTIGYGDKVP QTWVGKTIAS CFSVFAISFF ALPAGILGSG FALKVQQKQR 

       370        380        390        400        410        420 
QKHFNRQIPA AASLIQTAWR CYAAENPDSS TWKIYIRKAP RSHTLLSPSP KPKKSVVVKK 

       430        440        450        460        470        480 
KKFKLDKDNG VTPGEKMLTV PHITCDPPEE RRLDHFSVDG YDSSVRKSPT LLEVSMPHFM 

       490        500        510        520        530        540 
RTNSFAEDLD LEGETLLTPI THISQLREHH RATIKVIRRM QYFVAKKKFQ QARKPYDVRD 

       550        560        570        580        590        600 
VIEQYSQGHL NLMVRIKELQ RRLDQSIGKP SLFISVSEKS KDRGSNTIGA RLNRVEDKVT 

       610        620        630        640        650        660 
QLDQRLALIT DMLHQLLSLH GGSTPGSGGP PREGGAHITQ PCGSGGSVDP ELFLPSNTLP 

       670 
TYEQLTVPRR GPDEGS 

« Hide

Isoform 2 (TKvLQT1) [UniParc].

Checksum: 78BF5A267E74AC96
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FASTA54961,474

References

[1]"Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias."
Chouabe C., Neyroud N., Guicheney P., Lazdunski M., Romey G., Barhanin J.
EMBO J. 16:5472-5479(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Kidney.
[2]"Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome."
Itoh T., Tanaka T., Nagai R., Kikuchi K., Ogawa S., Okada S., Yamagata S., Yano K., Yazaki Y., Nakamura Y.
Hum. Genet. 103:290-294(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2), VARIANTS LQT1, VARIANT SER-643.
[3]"Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome."
Neyroud N., Richard P., Vignier N., Donger C., Denjoy I., Demay L., Shkolnikova M., Pesce R., Chevalier P., Hainque B., Coumel P., Schwartz K., Guicheney P.
Circ. Res. 84:290-297(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2), VARIANTS LQT1 MET-587 AND HIS-591.
[4]Seebohm G.
Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Heart.
[5]"KvLQT1, a voltage-gated potassium channel responsible for human cardiac arrhythmias."
Yang W.-P., Levesque P.C., Little W.A., Conder M.L., Shalaby F.Y., Blanar M.A.
Proc. Natl. Acad. Sci. U.S.A. 94:4017-4021(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-129.
[6]"Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel."
Sanguinetti M.C., Curran M.E., Zou A., Shen J., Spector P.S., Atkinson D.L., Keating M.T.
Nature 384:80-83(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 96-156.
Tissue: Pancreas.
[7]"Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias."
Wang Q., Curran M.E., Splawski I., Burn T.C., Millholland J.M., Vanraay T.J., Shen J., Timothy K.W., Vincent G.M., de Jager T., Schwartz P.J., Towbin J.A., Moss A.J., Atkinson D.L., Landes G.M., Connors T.D., Keating M.T.
Nat. Genet. 12:17-23(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 130-676, VARIANTS LQT1.
[8]"Suppression of slow delayed rectifier current by a truncated isoform of KvLQT1 cloned from normal human heart."
Jiang M., Tseng-Crank J., Tseng G.-N.
J. Biol. Chem. 272:24109-24112(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Heart.
[9]"Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome."
Shalaby F.Y., Levesque P.C., Yang W.-P., Little W.A., Conder M.L., Jenkins-West T., Blanar M.A.
Circulation 96:1733-1736(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANTS LQT1 PRO-178; PHE-273 AND ILE-312.
[10]"Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors."
Selyanko A.A., Hadley J.K., Wood I.C., Abogadie F.C., Jentsch T.J., Brown D.A.
J. Physiol. (Lond.) 522:349-355(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: INHIBITION BY M1 MUSCARINIC RECEPTORS.
[11]"A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly."
Schmitt N., Schwarz M., Peretz A., Abitbol I., Attali B., Pongs O.
EMBO J. 19:332-340(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION OF A SUBUNITS ASSEMBLY DOMAIN.
[12]"A constitutively open potassium channel formed by KCNQ1 and KCNE3."
Schroeder B.C., Waldegger S., Fehr S., Bleich M., Warth R., Greger R., Jentsch T.J.
Nature 403:196-199(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: POSSIBLE INTERACTION WITH KCNE3.
[13]"The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction."
Wiener R., Haitin Y., Shamgar L., Fernandez-Alonso M.C., Martos A., Chomsky-Hecht O., Rivas G., Attali B., Hirsch J.A.
J. Biol. Chem. 283:5815-5830(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 574-622, INTERACTION WITH CALM, SUBCELLULAR LOCATION, MUTAGENESIS OF GLY-589; ALA-590 AND ASN-593, CHARACTERIZATION OF VARIANT LQT1 ASP-589, SUBUNIT.
[14]"Jervell and Lange-Nielsen syndrome: a Norwegian perspective."
Tranebjaerg L., Bathen J., Tyson J., Bitner-Glindzicz M.
Am. J. Med. Genet. 89:137-146(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW ON VARIANTS.
[15]"KVLQT1 mutations in three families with familial or sporadic long QT syndrome."
Russell M.W., Dick M. II, Collins F.S., Brody L.C.
Hum. Mol. Genet. 5:1319-1324(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LQT1 SER-314 AND VAL-341.
[16]"Evidence of a long QT founder gene with varying phenotypic expression in South African families."
de Jager T., Corbett C.H., Badenhorst J.C., Brink P.A., Corfield V.A.
J. Med. Genet. 33:567-573(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LQT1 VAL-341.
[17]"A severe form of long-QT syndrome caused by KVLQT1 mutations located in cis (Abstract #2051)."
Wedekind H., Schulze-Bahr E., Lange S., Rubie C., Haverkamp W., Hoerdt M., Borggrefe M., Assmann G., Breithardt G., Funke H.
Am. J. Hum. Genet. Suppl. 61:A350-A350(1997)
Cited for: VARIANTS LQT1 MET-254 AND MET-417.
[18]"Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome."
Tanaka T., Nagai R., Tomoike H., Takata S., Yano K., Yabuta K., Haneda N., Nakano O., Shibata A., Sawayama T., Kasai H., Yazaki Y., Nakamura Y.
Circulation 95:565-567(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LQT1 THR-178; MET-313; ARG-325 AND PRO-366.
[19]"KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome."
Donger C., Denjoy I., Berthet M., Neyroud N., Cruaud C., Bennaceur M., Chivoret G., Schwartz K., Coumel P., Guicheney P.
Circulation 96:2778-2781(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LQT1.
[20]"The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene."
van den Berg M.H., Wilde A.A.M., Robles de Medina E.O., Meyer H., Geelen J.L.M.C., Jongbloed R.J.E., Wellens H.J., Geraedts J.P.M.
Hum. Genet. 100:356-361(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LQT1 ARG-216.
[21]"Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias."
Wollnik B., Schroeder B.C., Kubisch C., Esperer H.D., Wieacker P., Jentsch T.J.
Hum. Mol. Genet. 6:1943-1949(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LQT1 ASN-317.
[22]"New mutations in the KVLQT1 potassium channel that cause long-QT syndrome."
Li H., Chen Q., Moss A.J., Robinson J.L., Goytia V., Perry J.C., Vincent G.M., Priori S.G., Lehmann M.H., Denfield S.W., Duff D., Kaine S., Shimizu W., Schwartz P.J., Wang Q., Towbin J.A.
Circulation 97:1264-1269(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LQT1 VAL-341.
[23]"A recessive variant of the Romano-Ward Long-QT syndrome?"
Priori S.G., Schwartz P.J., Napolitano C., Bianchi L., Dennis A.T., de Fusco M., Brown A.M., Casari G.
Circulation 97:2420-2425(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LQT1 THR-300.
[24]"Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome."
Neyroud N., Denjoy I., Donger C., Gary F., Villain E., Leenhardt A., Benali K., Schwartz K., Coumel P., Guicheney P.
Eur. J. Hum. Genet. 6:129-133(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT JLNS1 SER-305.
[25]"Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1."
Splawski I., Shen J., Timothy K.W., Vincent G.M., Lehmann M.H., Keating M.T.
Genomics 51:86-97(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LQT1 ARG-168; SER-314; CYS-315; ASN-318; PRO-353 AND TRP-366.
[26]"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."
Saarinen K., Swan H., Kainulainen K., Toivonen L., Viitasalo M., Kontula K.
Hum. Mutat. 11:158-165(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LQT1 ILE-311 AND ASN-317.
[27]"A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family."
Ackerman M.J., Schroeder J.J., Berry R., Schaid D.J., Porter C.-B.J., Michels V.V., Thibodeau S.N.
Pediatr. Res. 44:148-153(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LQT1 PHE-339 DEL.
[28]"Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias."
Mohammad-Panah R., Demolombe S., Neyroud N., Guicheney P., Kyndt F., van den Hoff M., Baro I., Escande D.
Am. J. Hum. Genet. 64:1015-1023(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT JLNS1 HIS-243.
[29]"Congenital long QT syndrome. The value of genetics in prognostic evaluation."
Denjoy I., Lupoglazoff J.M., Donger C., Berthet M., Richard P., Neyroud N., Villain E., Lucet V., Coumel P., Guicheney P.
Arch. Mal. Coeur Vaiss. 92:557-563(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LQT1 HIS-174.
[30]"Low penetrance in the long-QT syndrome: clinical impact."
Priori S.G., Napolitano C., Schwartz P.J.
Circulation 99:529-533(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LQT1 LEU-225; CYS-281 AND CYS-315.
[31]"Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene."
Larsen L.A., Fosdal I., Andersen P.S., Kanters J.K., Vuust J., Wettrell G., Christiansen M.
Eur. J. Hum. Genet. 7:724-728(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LQT1 THR-525.
[32]"Novel KCNQ1 and HERG missense mutations in Dutch long-QT families."
Jongbloed R.J.E., Wilde A.A.M., Geelen J.L.M.C., Doevendans P., Schaap C., van Langen I., van Tintelen J.P., Cobben J.M., Beaufort-Krol G.C.M., Geraedts J.P.M., Smeets H.J.M.
Hum. Mutat. 13:301-310(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LQT1 SER-184; ARG-189; SER-314; SER-315; ARG-345; PRO-373 AND ARG-392.
[33]"High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants."
Larsen L.A., Christiansen M., Vuust J., Andersen P.S.
Hum. Mutat. 13:318-327(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LQT1 CYS-157.
[34]"Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits."
Franqueza L., Lin M., Shen J., Keating M.T., Sanguinetti M.C.
J. Biol. Chem. 274:21063-21070(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANTS LQT1 CYS-243; ARG-248 AND LYS-261.
[35]Erratum
Franqueza L., Lin M., Shen J., Keating M.T., Sanguinetti M.C.
J. Biol. Chem. 274:25188-25188(1999)
[36]"Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk."
Chouabe C., Neyroud N., Richard P., Denjoy I., Hainque B., Romey G., Drici M.-D., Guicheney P., Barhanin J.
Cardiovasc. Res. 45:971-980(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LQT1 GLN-190; TRP-533 AND TRP-539, VARIANT JLNS1 HIS-243, CHARACTERIZATION OF VARIANTS LQT1 GLN-190; TRP-533 AND TRP-539, CHARACTERIZATION OF VARIANT JLNS1 HIS-243.
[37]"Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2."
Splawski I., Shen J., Timothy K.W., Lehmann M.H., Priori S.G., Robinson J.L., Moss A.J., Schwartz P.J., Towbin J.A., Vincent G.M., Keating M.T.
Circulation 102:1178-1185(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LQT1.
[38]"KCNQ1 gain-of-function mutation in familial atrial fibrillation."
Chen Y.-H., Xu S.-J., Bendahhou S., Wang X.-L., Wang Y., Xu W.-Y., Jin H.-W., Sun H., Su X.-Y., Zhuang Q.-N., Yang Y.-Q., Li Y.-B., Liu Y., Xu H.-J., Li X.-F., Ma N., Mou C.-P., Chen Z., Barhanin J., Huang W.
Science 299:251-254(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ATFB3 GLY-140.
[39]"Mutation in the KCNQ1 gene leading to the short QT-interval syndrome."
Bellocq C., van Ginneken A.C.G., Bezzina C.R., Alders M., Escande D., Mannens M.M.A.M., Baro I., Wilde A.A.M.
Circulation 109:2394-2397(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SQT2 LEU-307, CHARACTERIZATION OF VARIANT SQT2 LEU-307.
[40]"Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing."
Tester D.J., Will M.L., Haglund C.M., Ackerman M.J.
Heart Rhythm 2:507-517(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LQT1 71-ALA--PRO-73 DEL; THR-73; GLY-115; TYR-122; ILE-133; PHE-136; LYS-160; ARG-168; CYS-174; GLN-190; PHE-204; LEU-225; ASN-235; ASN-242; CYS-243; MET-254; 254-VAL--PHE-256 DEL; CYS-259; LEU-259; ASP-261; PRO-266; SER-269; ASP-269; PHE-273; ARG-273; SER-276 DEL; LEU-277; HIS-278; LYS-290; ASP-292; CYS-293; VAL-302; ARG-304; SER-305; ILE-312; SER-314; ARG-314; ASP-314; CYS-315; ARG-316; ALA-322; PHE-339 DEL; VAL-341; SER-343; GLU-344; VAL-344; GLU-345; TRP-349; PRO-353; ARG-362; TRP-366; HIS-374; SER-380; TYR-389; TRP-452; GLY-524; GLU-526; TRP-539; LEU-546; CYS-555; HIS-555; TYR-566; SER-567; ARG-568; MET-587; THR-590; HIS-591; GLN-594; MET-619 AND SER-626.
[41]"Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus."
Yasuda K., Miyake K., Horikawa Y., Hara K., Osawa H., Furuta H., Hirota Y., Mori H., Jonsson A., Sato Y., Yamagata K., Hinokio Y., Wang H.Y., Tanahashi T., Nakamura N., Oka Y., Iwasaki N., Iwamoto Y. expand/collapse author list , Yamada Y., Seino Y., Maegawa H., Kashiwagi A., Takeda J., Maeda E., Shin H.D., Cho Y.M., Park K.S., Lee H.K., Ng M.C., Ma R.C., So W.Y., Chan J.C., Lyssenko V., Tuomi T., Nilsson P., Groop L., Kamatani N., Sekine A., Nakamura Y., Yamamoto K., Yoshida T., Tokunaga K., Itakura M., Makino H., Nanjo K., Kadowaki T., Kasuga M.
Nat. Genet. 40:1092-1097(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN NIDDM.
[42]"SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations."
Unoki H., Takahashi A., Kawaguchi T., Hara K., Horikoshi M., Andersen G., Ng D.P., Holmkvist J., Borch-Johnsen K., Jorgensen T., Sandbaek A., Lauritzen T., Hansen T., Nurbaya S., Tsunoda T., Kubo M., Babazono T., Hirose H. expand/collapse author list , Hayashi M., Iwamoto Y., Kashiwagi A., Kaku K., Kawamori R., Tai E.S., Pedersen O., Kamatani N., Kadowaki T., Kikkawa R., Nakamura Y., Maeda S.
Nat. Genet. 40:1098-1102(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN NIDDM.
[43]"Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico."
The SIGMA Type 2 Diabetes Consortium
Nature 506:97-101(2014) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN NIDDM.
[44]"Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1."
Thomas D., Khalil M., Alter M., Schweizer P.A., Karle C.A., Wimmer A.B., Licka M., Katus H.A., Koenen M., Ulmer H.E., Zehelein J.
J. Mol. Cell. Cardiol. 48:230-237(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LQT1 HIS-320, CHARACTERIZATION OF VARIANTS LQT1 ALA-320 AND HIS-320.
[45]"Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability."
Aidery P., Kisselbach J., Schweizer P.A., Becker R., Katus H.A., Thomas D.
Biochim. Biophys. Acta 1812:488-494(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LQT1 LEU-277, CHARACTERIZATION OF VARIANT LQT1 LEU-277.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF000571 mRNA. Translation: AAC51776.1.
AB015163 Genomic DNA. Translation: BAA34738.1.
AB015163 Genomic DNA. Translation: BAA34739.1. Frameshift.
AJ006345 Genomic DNA. Translation: CAB44649.1.
AJ006345 Genomic DNA. Translation: CAB44650.1.
AY114213 mRNA. Translation: AAM94040.1.
U86146 mRNA. Translation: AAB53974.1.
U89364 mRNA. Translation: AAC51781.1.
AF051426 mRNA. Translation: AAC05705.1.
RefSeqNP_000209.2. NM_000218.2.
NP_861463.1. NM_181798.1.
UniGeneHs.95162.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3BJ4X-ray2.00A/B574-622[»]
3HFCX-ray2.45A/B/C583-611[»]
3HFEX-ray1.70A/B/C583-611[»]
ProteinModelPortalP51787.
SMRP51787. Positions 106-358, 584-621.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109985. 16 interactions.
DIPDIP-27591N.
IntActP51787. 4 interactions.
MINTMINT-1145466.
STRING9606.ENSP00000155840.

Chemistry

BindingDBP51787.
ChEMBLCHEMBL2363063.
DrugBankDB01244. Bepridil.
DB00808. Indapamide.
GuidetoPHARMACOLOGY560.

Protein family/group databases

TCDB1.A.1.15.6. the voltage-gated ion channel (vic) superfamily.

PTM databases

PhosphoSiteP51787.

Polymorphism databases

DMDM6166005.

Proteomic databases

PaxDbP51787.
PRIDEP51787.

Protocols and materials databases

DNASU3784.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000155840; ENSP00000155840; ENSG00000053918. [P51787-1]
ENST00000335475; ENSP00000334497; ENSG00000053918. [P51787-2]
GeneID3784.
KEGGhsa:3784.
UCSCuc001lwn.3. human. [P51787-1]

Organism-specific databases

CTD3784.
GeneCardsGC11P002466.
HGNCHGNC:6294. KCNQ1.
HPACAB018656.
HPA048553.
MIM125853. phenotype.
192500. phenotype.
220400. phenotype.
607542. gene.
607554. phenotype.
609621. phenotype.
neXtProtNX_P51787.
Orphanet334. Familial atrial fibrillation.
51083. Familial short QT syndrome.
90647. Jervell and Lange-Nielsen syndrome.
101016. Romano-Ward syndrome.
PharmGKBPA223.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1226.
HOVERGENHBG059014.
InParanoidP51787.
KOK04926.
OMAGWGRLPG.
OrthoDBEOG73804Z.
PhylomeDBP51787.
TreeFamTF315186.

Enzyme and pathway databases

ReactomeREACT_13685. Neuronal System.
SignaLinkP51787.

Gene expression databases

ArrayExpressP51787.
BgeeP51787.
CleanExHS_KCNQ1.
GenevestigatorP51787.

Family and domain databases

InterProIPR005821. Ion_trans_dom.
IPR003091. K_chnl.
IPR003937. K_chnl_volt-dep_KCNQ.
IPR013821. K_chnl_volt-dep_KCNQ_C.
IPR005827. K_chnl_volt-dep_KCQN1.
IPR028325. VG_K_chnl.
[Graphical view]
PANTHERPTHR11537. PTHR11537. 1 hit.
PTHR11537:SF9. PTHR11537:SF9. 1 hit.
PfamPF00520. Ion_trans. 1 hit.
PF03520. KCNQ_channel. 1 hit.
[Graphical view]
PRINTSPR00169. KCHANNEL.
PR01460. KCNQ1CHANNEL.
PR01459. KCNQCHANNEL.
ProtoNetSearch...

Other

ChiTaRSKCNQ1. human.
EvolutionaryTraceP51787.
GeneWikiKvLQT1.
GenomeRNAi3784.
NextBio14853.
PROP51787.
SOURCESearch...

Entry information

Entry nameKCNQ1_HUMAN
AccessionPrimary (citable) accession number: P51787
Secondary accession number(s): O00347 expand/collapse secondary AC list , O60607, O94787, Q7Z6G9, Q92960, Q9UMN8, Q9UMN9
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: July 15, 1999
Last modified: April 16, 2014
This is version 159 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM