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P51787

- KCNQ1_HUMAN

UniProt

P51787 - KCNQ1_HUMAN

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Protein

Potassium voltage-gated channel subfamily KQT member 1

Gene
KCNQ1, KCNA8, KCNA9, KVLQT1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  1. calmodulin binding Source: BHF-UCL
  2. delayed rectifier potassium channel activity Source: BHF-UCL
  3. ion channel binding Source: BHF-UCL
  4. outward rectifier potassium channel activity Source: Ensembl
  5. protein binding Source: IntAct
  6. protein kinase A catalytic subunit binding Source: BHF-UCL
  7. protein kinase A regulatory subunit binding Source: BHF-UCL
  8. protein phosphatase 1 binding Source: BHF-UCL
  9. scaffold protein binding Source: BHF-UCL
  10. voltage-gated potassium channel activity Source: BHF-UCL
  11. voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization Source: BHF-UCL
  12. voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization Source: BHF-UCL
  13. voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization Source: BHF-UCL

GO - Biological processi

  1. atrial cardiac muscle cell action potential Source: BHF-UCL
  2. cardiac muscle contraction Source: BHF-UCL
  3. cardiovascular system development Source: Ensembl
  4. cellular response to cAMP Source: BHF-UCL
  5. cellular response to drug Source: BHF-UCL
  6. cellular response to epinephrine stimulus Source: BHF-UCL
  7. gene silencing Source: Ensembl
  8. male gonad development Source: Ensembl
  9. membrane repolarization during action potential Source: BHF-UCL
  10. membrane repolarization during cardiac muscle cell action potential Source: BHF-UCL
  11. negative regulation of insulin secretion Source: Ensembl
  12. positive regulation of gastric acid secretion Source: Ensembl
  13. positive regulation of potassium ion transmembrane transport Source: BHF-UCL
  14. potassium ion export Source: BHF-UCL
  15. potassium ion transmembrane transport Source: BHF-UCL
  16. regulation of atrial cardiac muscle cell membrane repolarization Source: BHF-UCL
  17. regulation of gene expression by genetic imprinting Source: Ensembl
  18. regulation of heart contraction Source: BHF-UCL
  19. regulation of heart rate by cardiac conduction Source: BHF-UCL
  20. regulation of membrane repolarization Source: BHF-UCL
  21. regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL
  22. sensory perception of sound Source: ProtInc
  23. synaptic transmission Source: Reactome
  24. ventricular cardiac muscle cell action potential Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Potassium channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Potassium transport, Transport

Keywords - Ligandi

Calmodulin-binding, Potassium

Enzyme and pathway databases

ReactomeiREACT_75770. Voltage gated Potassium channels.
SignaLinkiP51787.

Protein family/group databases

TCDBi1.A.1.15.6. the voltage-gated ion channel (vic) superfamily.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:KCNQ1
Synonyms:KCNA8, KCNA9, KVLQT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:6294. KCNQ1.

Subcellular locationi

Cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei122 – 14221Helical; Name=Segment S1; Reviewed predictionAdd
BLAST
Topological domaini143 – 1475Extracellular Reviewed prediction
Transmembranei148 – 16821Helical; Name=Segment S2; Reviewed predictionAdd
BLAST
Topological domaini169 – 19628Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei197 – 21721Helical; Name=Segment S3; Reviewed predictionAdd
BLAST
Topological domaini218 – 2258Extracellular Reviewed prediction
Transmembranei226 – 24823Helical; Voltage-sensor; Name=Segment S4; Reviewed predictionAdd
BLAST
Topological domaini249 – 26113Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei262 – 28221Helical; Name=Segment S5; Reviewed predictionAdd
BLAST
Topological domaini283 – 29917Extracellular Reviewed predictionAdd
BLAST
Intramembranei300 – 32021Pore-forming; Name=Segment H5; Reviewed predictionAdd
BLAST
Topological domaini321 – 3277Extracellular Reviewed prediction
Transmembranei328 – 34821Helical; Name=Segment S6; Reviewed predictionAdd
BLAST
Topological domaini349 – 676328Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. basolateral plasma membrane Source: BHF-UCL
  2. early endosome Source: BHF-UCL
  3. late endosome Source: BHF-UCL
  4. lysosome Source: BHF-UCL
  5. plasma membrane Source: Reactome
  6. sarcolemma Source: Ensembl
  7. voltage-gated potassium channel complex Source: BHF-UCL
  8. zymogen granule membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasmic vesicle, Membrane

Pathology & Biotechi

Involvement in diseasei

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.28 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti71 – 733Missing in LQT1.
VAR_009917
Natural varianti73 – 731P → T in LQT1. 1 Publication
VAR_068287
Natural varianti111 – 1111Y → C in LQT1.
VAR_009918
Natural varianti115 – 1151E → G in LQT1. 1 Publication
VAR_068288
Natural varianti122 – 1221C → Y in LQT1. 1 Publication
VAR_068289
Natural varianti133 – 1331V → I in LQT1. 1 Publication
VAR_068290
Natural varianti136 – 1361C → F in LQT1. 1 Publication
VAR_068291
Natural varianti157 – 1571F → C in LQT1. 1 Publication
VAR_008124
Natural varianti160 – 1601E → K in LQT1. 1 Publication
VAR_009919
Natural varianti167 – 1682FG → W in LQT1.
VAR_001515
Natural varianti168 – 1681G → R in LQT1. 2 Publications
Corresponds to variant rs179489 [ dbSNP | Ensembl ].
VAR_001516
Natural varianti174 – 1741R → C in LQT1. 1 Publication
VAR_001517
Natural varianti174 – 1741R → H in LQT1. 1 Publication
VAR_008939
Natural varianti178 – 1781A → P in LQT1; loss of channel activity. 1 Publication
VAR_001518
Natural varianti178 – 1781A → T in LQT1. 1 Publication
VAR_009920
Natural varianti179 – 1791G → S in LQT1.
VAR_009921
Natural varianti184 – 1841Y → S in LQT1. 1 Publication
VAR_008125
Natural varianti189 – 1891G → R in LQT1; familial sudden death. 1 Publication
VAR_001519
Natural varianti190 – 1901R → Q in LQT1; loss of channel activity. 2 Publications
VAR_001520
Natural varianti194 – 1941A → P in LQT1.
VAR_009922
Natural varianti204 – 2041I → F in LQT1. 1 Publication
VAR_068292
Natural varianti216 – 2161G → R in LQT1. 1 Publication
VAR_001521
Natural varianti225 – 2251S → L in LQT1. 2 Publications
VAR_009923
Natural varianti235 – 2351I → N in LQT1. 1 Publication
VAR_068293
Natural varianti242 – 2421D → N in LQT1. 1 Publication
VAR_008940
Natural varianti243 – 2431R → C in LQT1; slower rate of activation and voltage dependence of activation-inactivation shifted to more positive potentials (homomultimers); channels non-functional (heteromultimers). 2 Publications
VAR_010933
Natural varianti248 – 2481W → R in LQT1; slower rate of activation and voltage dependence of activation-inactivation shifted to more positive potentials (homomultimers); channels non-functional (heteromultimers). 1 Publication
VAR_008942
Natural varianti250 – 2501L → H in LQT1.
VAR_008943
Natural varianti254 – 2563Missing in LQT1.
VAR_068294
Natural varianti254 – 2541V → M in LQT1; associated with M-417 in a patient. 2 Publications
VAR_001522
Natural varianti259 – 2591R → C in LQT1. 1 Publication
VAR_068295
Natural varianti259 – 2591R → L in LQT1. 1 Publication
VAR_068296
Natural varianti261 – 2611E → K in LQT1; loss of channel activity and no interaction with wt KVLQT1 or MINK subunits. 1 Publication
VAR_001523
Natural varianti266 – 2661L → P in LQT1. 1 Publication
VAR_009924
Natural varianti269 – 2691G → D in LQT1. 1 Publication
VAR_001524
Natural varianti269 – 2691G → S in LQT1. 1 Publication
VAR_009925
Natural varianti273 – 2731L → F in LQT1; functional channel with reduced macroscopic conductance (homomultimers); alteration of normal KVLQT1 function (mut/wt homomultimers). 2 Publications
VAR_001525
Natural varianti273 – 2731L → R in LQT1. 1 Publication
VAR_068297
Natural varianti276 – 2761Missing in LQT1. 1 Publication
VAR_068298
Natural varianti277 – 2771S → L in LQT1; loss of function mutation acting in a dominant-negative manner. 2 Publications
VAR_065777
Natural varianti278 – 2781Y → H in LQT1. 1 Publication
VAR_068299
Natural varianti281 – 2811Y → C in LQT1. 1 Publication
VAR_008945
Natural varianti290 – 2901E → K in LQT1. 1 Publication
VAR_068300
Natural varianti292 – 2921G → D in LQT1. 1 Publication
VAR_068301
Natural varianti293 – 2931R → C in LQT1. 1 Publication
VAR_068302
Natural varianti300 – 3001A → T in LQT1. 1 Publication
VAR_001526
Natural varianti302 – 3021A → V in LQT1. 1 Publication
VAR_068303
Natural varianti304 – 3041W → R in LQT1. 1 Publication
VAR_068304
Natural varianti306 – 3061G → R in LQT1.
VAR_001528
Natural varianti309 – 3091T → R in LQT1.
VAR_001529
Natural varianti310 – 3101V → I in LQT1.
VAR_009926
Natural varianti311 – 3111T → I in LQT1. 1 Publication
VAR_009927
Natural varianti312 – 3121T → I in LQT1; loss of channel activity. 2 Publications
VAR_001530
Natural varianti313 – 3131I → M in LQT1. 1 Publication
VAR_001531
Natural varianti314 – 3141G → D in LQT1. 1 Publication
VAR_068305
Natural varianti314 – 3141G → R in LQT1. 1 Publication
VAR_068306
Natural varianti314 – 3141G → S in LQT1. 4 Publications
VAR_001532
Natural varianti315 – 3151Y → C in LQT1. 3 Publications
VAR_008946
Natural varianti315 – 3151Y → S in LQT1. 1 Publication
VAR_001533
Natural varianti316 – 3161G → R in LQT1. 1 Publication
VAR_068307
Natural varianti317 – 3171D → N in LQT1. 2 Publications
VAR_001534
Natural varianti318 – 3181K → N in LQT1. 1 Publication
VAR_008947
Natural varianti320 – 3201P → A in LQT1; loss of function mutation acting in a dominant-negative manner. 1 Publication
VAR_001535
Natural varianti320 – 3201P → H in LQT1; loss of function mutation acting in a dominant-negative manner. 1 Publication
VAR_065778
Natural varianti322 – 3221T → A in LQT1. 1 Publication
VAR_068308
Natural varianti325 – 3251G → R in LQT1. 1 Publication
VAR_001536
Natural varianti339 – 3391Missing in LQT1. 2 Publications
VAR_001537
Natural varianti341 – 3411A → E in LQT1.
Corresponds to variant rs12720459 [ dbSNP | Ensembl ].
VAR_001538
Natural varianti341 – 3411A → V in LQT1. 4 Publications
Corresponds to variant rs12720459 [ dbSNP | Ensembl ].
VAR_001539
Natural varianti342 – 3421L → F in LQT1.
VAR_001540
Natural varianti343 – 3431P → S in LQT1. 1 Publication
VAR_068309
Natural varianti344 – 3441A → E in LQT1. 1 Publication
VAR_068310
Natural varianti344 – 3441A → V in LQT1. 1 Publication
VAR_001541
Natural varianti345 – 3451G → E in LQT1. 1 Publication
VAR_001542
Natural varianti345 – 3451G → R in LQT1; familial sudden death. 1 Publication
VAR_008126
Natural varianti349 – 3491S → W in LQT1. 1 Publication
VAR_009928
Natural varianti353 – 3531L → P in LQT1. 2 Publications
VAR_009180
Natural varianti362 – 3621K → R in LQT1. 1 Publication
Corresponds to variant rs12720458 [ dbSNP | Ensembl ].
VAR_048025
Natural varianti366 – 3661R → P in LQT1. 1 Publication
VAR_001543
Natural varianti366 – 3661R → Q in LQT1.
VAR_009929
Natural varianti366 – 3661R → W in LQT1. 2 Publications
VAR_008948
Natural varianti371 – 3711A → T in LQT1.
VAR_001544
Natural varianti373 – 3731S → P in LQT1. 1 Publication
VAR_008127
Natural varianti374 – 3741L → H in LQT1. 1 Publication
VAR_068311
Natural varianti380 – 3801R → S in LQT1. 1 Publication
VAR_068312
Natural varianti389 – 3891S → Y in LQT1. 1 Publication
VAR_068313
Natural varianti391 – 3911T → I in LQT1.
VAR_009930
Natural varianti392 – 3921W → R in LQT1. 1 Publication
VAR_008128
Natural varianti417 – 4171V → M in LQT1; associated with M-254 in a patient. 1 Publication
VAR_010934
Natural varianti448 – 4481P → R in LQT1.
Corresponds to variant rs12720449 [ dbSNP | Ensembl ].
VAR_009931
Natural varianti452 – 4521R → W in LQT1. 1 Publication
VAR_068314
Natural varianti524 – 5241V → G in LQT1. 1 Publication
VAR_068315
Natural varianti525 – 5251A → T in LQT1. 1 Publication
VAR_009181
Natural varianti526 – 5261K → E in LQT1. 1 Publication
VAR_068316
Natural varianti533 – 5331R → W in LQT1; minor changes of wt current (homomultimers); positive voltage shift of the channel activation (heteromultimers). 1 Publication
VAR_008949
Natural varianti539 – 5391R → W in LQT1; minor changes of wt current (homomultimers); positive voltage shift of the channel activation (heteromultimers). 2 Publications
VAR_008950
Natural varianti546 – 5461S → L in LQT1. 1 Publication
VAR_068317
Natural varianti555 – 5551R → C in LQT1; associated with a fruste phenotype. 1 Publication
VAR_001545
Natural varianti555 – 5551R → H in LQT1. 1 Publication
VAR_068318
Natural varianti566 – 5661S → F in LQT1.
VAR_009932
Natural varianti566 – 5661S → Y in LQT1. 1 Publication
VAR_068319
Natural varianti567 – 5671I → S in LQT1. 1 Publication
VAR_068320
Natural varianti568 – 5681G → R in LQT1. 1 Publication
VAR_068321
Natural varianti583 – 5831R → C in LQT1.
Corresponds to variant rs17221854 [ dbSNP | Ensembl ].
VAR_009933
Natural varianti587 – 5871T → M in LQT1. 2 Publications
VAR_008951
Natural varianti589 – 5891G → D in LQT1; reduced cell surface expression and strongly reduced potassium current. 1 Publication
VAR_008952
Natural varianti590 – 5901A → T in LQT1. 1 Publication
VAR_068322
Natural varianti591 – 5911R → H in LQT1. 2 Publications
VAR_008953
Natural varianti594 – 5941R → Q in LQT1. 1 Publication
VAR_009934
Natural varianti619 – 6191L → M in LQT1. 1 Publication
VAR_068323
Natural varianti626 – 6261G → S in LQT1. 1 Publication
VAR_068324
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.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti243 – 2431R → H in JLNS1; minor changes of wt current (homomultimers); positive voltage shift of the channel activation (heteromultimers). 2 Publications
VAR_008941
Natural varianti261 – 2611E → D in JLNS1. 1 Publication
VAR_008944
Natural varianti305 – 3051W → S in JLNS1. 2 Publications
VAR_001527
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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti140 – 1401S → G in ATFB3; gain of function. 1 Publication
VAR_015742
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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti307 – 3071V → L in SQT2; gain of function. 1 Publication
VAR_023841
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.3 Publications

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi589 – 5891G → M: No effect. 1 Publication
Mutagenesisi590 – 5901A → W: Reduced cell surface expression and strongly reduced potassium current. 1 Publication
Mutagenesisi593 – 5931N → G: Reduced cell surface expression and moderately reduced potassium current. 1 Publication

Keywords - Diseasei

Atrial fibrillation, Deafness, Diabetes mellitus, Disease mutation, Long QT syndrome, Short QT syndrome

Organism-specific databases

MIMi125853. phenotype.
192500. phenotype.
220400. phenotype.
607554. phenotype.
609621. phenotype.
Orphaneti334. Familial atrial fibrillation.
51083. Familial short QT syndrome.
90647. Jervell and Lange-Nielsen syndrome.
101016. Romano-Ward syndrome.
PharmGKBiPA223.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 676676Potassium voltage-gated channel subfamily KQT member 1PRO_0000054022Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi289 – 2891N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP51787.
PRIDEiP51787.

PTM databases

PhosphoSiteiP51787.

Expressioni

Tissue specificityi

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

Gene expression databases

ArrayExpressiP51787.
BgeeiP51787.
CleanExiHS_KCNQ1.
GenevestigatoriP51787.

Organism-specific databases

HPAiCAB018656.
HPA048553.

Interactioni

Subunit structurei

Heterotetramer with KCNE1 (MinK) or KCNE3 (MiRP2). Interacts with CALM.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
KCNE1P153824EBI-359667,EBI-7043557

Protein-protein interaction databases

BioGridi109985. 16 interactions.
DIPiDIP-27591N.
IntActiP51787. 4 interactions.
MINTiMINT-1145466.
STRINGi9606.ENSP00000155840.

Structurei

Secondary structure

1
676
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi588 – 60922

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3BJ4X-ray2.00A/B574-622[»]
3HFCX-ray2.45A/B/C583-611[»]
3HFEX-ray1.70A/B/C583-611[»]
ProteinModelPortaliP51787.
SMRiP51787. Positions 147-357, 584-621.

Miscellaneous databases

EvolutionaryTraceiP51787.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni589 – 62032Subunits assembly domainAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili585 – 62137Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi312 – 3176Selectivity filter By similarity

Domaini

The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.1 Publication
The coiled-coil domain mediates tetramerization.

Sequence similaritiesi

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1226.
HOVERGENiHBG059014.
InParanoidiP51787.
KOiK04926.
OMAiEHHRAAI.
OrthoDBiEOG73804Z.
PhylomeDBiP51787.
TreeFamiTF315186.

Family and domain databases

InterProiIPR005821. 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]
PANTHERiPTHR11537. PTHR11537. 1 hit.
PTHR11537:SF109. PTHR11537:SF109. 1 hit.
PfamiPF00520. Ion_trans. 1 hit.
PF03520. KCNQ_channel. 1 hit.
[Graphical view]
PRINTSiPR00169. KCHANNEL.
PR01460. KCNQ1CHANNEL.
PR01459. KCNQCHANNEL.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: P51787-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MAAASSPPRA ERKRWGWGRL PGARRGSAGL AKKCPFSLEL AEGGPAGGAL    50
YAPIAPGAPG PAPPASPAAP AAPPVASDLG PRPPVSLDPR VSIYSTRRPV 100
LARTHVQGRV YNFLERPTGW KCFVYHFAVF LIVLVCLIFS VLSTIEQYAA 150
LATGTLFWME IVLVVFFGTE YVVRLWSAGC RSKYVGLWGR LRFARKPISI 200
IDLIVVVASM VVLCVGSKGQ VFATSAIRGI RFLQILRMLH VDRQGGTWRL 250
LGSVVFIHRQ ELITTLYIGF LGLIFSSYFV YLAEKDAVNE SGRVEFGSYA 300
DALWWGVVTV TTIGYGDKVP QTWVGKTIAS CFSVFAISFF ALPAGILGSG 350
FALKVQQKQR QKHFNRQIPA AASLIQTAWR CYAAENPDSS TWKIYIRKAP 400
RSHTLLSPSP KPKKSVVVKK KKFKLDKDNG VTPGEKMLTV PHITCDPPEE 450
RRLDHFSVDG YDSSVRKSPT LLEVSMPHFM RTNSFAEDLD LEGETLLTPI 500
THISQLREHH RATIKVIRRM QYFVAKKKFQ QARKPYDVRD VIEQYSQGHL 550
NLMVRIKELQ RRLDQSIGKP SLFISVSEKS KDRGSNTIGA RLNRVEDKVT 600
QLDQRLALIT DMLHQLLSLH GGSTPGSGGP PREGGAHITQ PCGSGGSVDP 650
ELFLPSNTLP TYEQLTVPRR GPDEGS 676
Length:676
Mass (Da):74,699
Last modified:July 15, 1999 - v3
Checksum:iADFCA9E2B9763B21
GO
Isoform 2 (identifier: P51787-2) [UniParc]FASTAAdd to Basket

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.

Show »
Length:549
Mass (Da):61,474
Checksum:i78BF5A267E74AC96
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti71 – 733Missing in LQT1.
VAR_009917
Natural varianti73 – 731P → T in LQT1. 1 Publication
VAR_068287
Natural varianti111 – 1111Y → C in LQT1.
VAR_009918
Natural varianti115 – 1151E → G in LQT1. 1 Publication
VAR_068288
Natural varianti122 – 1221C → Y in LQT1. 1 Publication
VAR_068289
Natural varianti133 – 1331V → I in LQT1. 1 Publication
VAR_068290
Natural varianti136 – 1361C → F in LQT1. 1 Publication
VAR_068291
Natural varianti140 – 1401S → G in ATFB3; gain of function. 1 Publication
VAR_015742
Natural varianti157 – 1571F → C in LQT1. 1 Publication
VAR_008124
Natural varianti160 – 1601E → K in LQT1. 1 Publication
VAR_009919
Natural varianti167 – 1682FG → W in LQT1.
VAR_001515
Natural varianti168 – 1681G → R in LQT1. 2 Publications
Corresponds to variant rs179489 [ dbSNP | Ensembl ].
VAR_001516
Natural varianti174 – 1741R → C in LQT1. 1 Publication
VAR_001517
Natural varianti174 – 1741R → H in LQT1. 1 Publication
VAR_008939
Natural varianti178 – 1781A → P in LQT1; loss of channel activity. 1 Publication
VAR_001518
Natural varianti178 – 1781A → T in LQT1. 1 Publication
VAR_009920
Natural varianti179 – 1791G → S in LQT1.
VAR_009921
Natural varianti184 – 1841Y → S in LQT1. 1 Publication
VAR_008125
Natural varianti189 – 1891G → R in LQT1; familial sudden death. 1 Publication
VAR_001519
Natural varianti190 – 1901R → Q in LQT1; loss of channel activity. 2 Publications
VAR_001520
Natural varianti194 – 1941A → P in LQT1.
VAR_009922
Natural varianti204 – 2041I → F in LQT1. 1 Publication
VAR_068292
Natural varianti216 – 2161G → R in LQT1. 1 Publication
VAR_001521
Natural varianti225 – 2251S → L in LQT1. 2 Publications
VAR_009923
Natural varianti235 – 2351I → N in LQT1. 1 Publication
VAR_068293
Natural varianti242 – 2421D → N in LQT1. 1 Publication
VAR_008940
Natural varianti243 – 2431R → C in LQT1; slower rate of activation and voltage dependence of activation-inactivation shifted to more positive potentials (homomultimers); channels non-functional (heteromultimers). 2 Publications
VAR_010933
Natural varianti243 – 2431R → H in JLNS1; minor changes of wt current (homomultimers); positive voltage shift of the channel activation (heteromultimers). 2 Publications
VAR_008941
Natural varianti248 – 2481W → R in LQT1; slower rate of activation and voltage dependence of activation-inactivation shifted to more positive potentials (homomultimers); channels non-functional (heteromultimers). 1 Publication
VAR_008942
Natural varianti250 – 2501L → H in LQT1.
VAR_008943
Natural varianti254 – 2563Missing in LQT1.
VAR_068294
Natural varianti254 – 2541V → M in LQT1; associated with M-417 in a patient. 2 Publications
VAR_001522
Natural varianti259 – 2591R → C in LQT1. 1 Publication
VAR_068295
Natural varianti259 – 2591R → L in LQT1. 1 Publication
VAR_068296
Natural varianti261 – 2611E → D in JLNS1. 1 Publication
VAR_008944
Natural varianti261 – 2611E → K in LQT1; loss of channel activity and no interaction with wt KVLQT1 or MINK subunits. 1 Publication
VAR_001523
Natural varianti266 – 2661L → P in LQT1. 1 Publication
VAR_009924
Natural varianti269 – 2691G → D in LQT1. 1 Publication
VAR_001524
Natural varianti269 – 2691G → S in LQT1. 1 Publication
VAR_009925
Natural varianti273 – 2731L → F in LQT1; functional channel with reduced macroscopic conductance (homomultimers); alteration of normal KVLQT1 function (mut/wt homomultimers). 2 Publications
VAR_001525
Natural varianti273 – 2731L → R in LQT1. 1 Publication
VAR_068297
Natural varianti276 – 2761Missing in LQT1. 1 Publication
VAR_068298
Natural varianti277 – 2771S → L in LQT1; loss of function mutation acting in a dominant-negative manner. 2 Publications
VAR_065777
Natural varianti278 – 2781Y → H in LQT1. 1 Publication
VAR_068299
Natural varianti281 – 2811Y → C in LQT1. 1 Publication
VAR_008945
Natural varianti290 – 2901E → K in LQT1. 1 Publication
VAR_068300
Natural varianti292 – 2921G → D in LQT1. 1 Publication
VAR_068301
Natural varianti293 – 2931R → C in LQT1. 1 Publication
VAR_068302
Natural varianti300 – 3001A → T in LQT1. 1 Publication
VAR_001526
Natural varianti302 – 3021A → V in LQT1. 1 Publication
VAR_068303
Natural varianti304 – 3041W → R in LQT1. 1 Publication
VAR_068304
Natural varianti305 – 3051W → S in JLNS1. 2 Publications
VAR_001527
Natural varianti306 – 3061G → R in LQT1.
VAR_001528
Natural varianti307 – 3071V → L in SQT2; gain of function. 1 Publication
VAR_023841
Natural varianti309 – 3091T → R in LQT1.
VAR_001529
Natural varianti310 – 3101V → I in LQT1.
VAR_009926
Natural varianti311 – 3111T → I in LQT1. 1 Publication
VAR_009927
Natural varianti312 – 3121T → I in LQT1; loss of channel activity. 2 Publications
VAR_001530
Natural varianti313 – 3131I → M in LQT1. 1 Publication
VAR_001531
Natural varianti314 – 3141G → D in LQT1. 1 Publication
VAR_068305
Natural varianti314 – 3141G → R in LQT1. 1 Publication
VAR_068306
Natural varianti314 – 3141G → S in LQT1. 4 Publications
VAR_001532
Natural varianti315 – 3151Y → C in LQT1. 3 Publications
VAR_008946
Natural varianti315 – 3151Y → S in LQT1. 1 Publication
VAR_001533
Natural varianti316 – 3161G → R in LQT1. 1 Publication
VAR_068307
Natural varianti317 – 3171D → N in LQT1. 2 Publications
VAR_001534
Natural varianti318 – 3181K → N in LQT1. 1 Publication
VAR_008947
Natural varianti320 – 3201P → A in LQT1; loss of function mutation acting in a dominant-negative manner. 1 Publication
VAR_001535
Natural varianti320 – 3201P → H in LQT1; loss of function mutation acting in a dominant-negative manner. 1 Publication
VAR_065778
Natural varianti322 – 3221T → A in LQT1. 1 Publication
VAR_068308
Natural varianti325 – 3251G → R in LQT1. 1 Publication
VAR_001536
Natural varianti339 – 3391Missing in LQT1. 2 Publications
VAR_001537
Natural varianti341 – 3411A → E in LQT1.
Corresponds to variant rs12720459 [ dbSNP | Ensembl ].
VAR_001538
Natural varianti341 – 3411A → V in LQT1. 4 Publications
Corresponds to variant rs12720459 [ dbSNP | Ensembl ].
VAR_001539
Natural varianti342 – 3421L → F in LQT1.
VAR_001540
Natural varianti343 – 3431P → S in LQT1. 1 Publication
VAR_068309
Natural varianti344 – 3441A → E in LQT1. 1 Publication
VAR_068310
Natural varianti344 – 3441A → V in LQT1. 1 Publication
VAR_001541
Natural varianti345 – 3451G → E in LQT1. 1 Publication
VAR_001542
Natural varianti345 – 3451G → R in LQT1; familial sudden death. 1 Publication
VAR_008126
Natural varianti349 – 3491S → W in LQT1. 1 Publication
VAR_009928
Natural varianti353 – 3531L → P in LQT1. 2 Publications
VAR_009180
Natural varianti362 – 3621K → R in LQT1. 1 Publication
Corresponds to variant rs12720458 [ dbSNP | Ensembl ].
VAR_048025
Natural varianti366 – 3661R → P in LQT1. 1 Publication
VAR_001543
Natural varianti366 – 3661R → Q in LQT1.
VAR_009929
Natural varianti366 – 3661R → W in LQT1. 2 Publications
VAR_008948
Natural varianti371 – 3711A → T in LQT1.
VAR_001544
Natural varianti373 – 3731S → P in LQT1. 1 Publication
VAR_008127
Natural varianti374 – 3741L → H in LQT1. 1 Publication
VAR_068311
Natural varianti380 – 3801R → S in LQT1. 1 Publication
VAR_068312
Natural varianti389 – 3891S → Y in LQT1. 1 Publication
VAR_068313
Natural varianti391 – 3911T → I in LQT1.
VAR_009930
Natural varianti392 – 3921W → R in LQT1. 1 Publication
VAR_008128
Natural varianti393 – 3931K → N.
Corresponds to variant rs12720457 [ dbSNP | Ensembl ].
VAR_048026
Natural varianti417 – 4171V → M in LQT1; associated with M-254 in a patient. 1 Publication
VAR_010934
Natural varianti448 – 4481P → R in LQT1.
Corresponds to variant rs12720449 [ dbSNP | Ensembl ].
VAR_009931
Natural varianti452 – 4521R → W in LQT1. 1 Publication
VAR_068314
Natural varianti524 – 5241V → G in LQT1. 1 Publication
VAR_068315
Natural varianti525 – 5251A → T in LQT1. 1 Publication
VAR_009181
Natural varianti526 – 5261K → E in LQT1. 1 Publication
VAR_068316
Natural varianti533 – 5331R → W in LQT1; minor changes of wt current (homomultimers); positive voltage shift of the channel activation (heteromultimers). 1 Publication
VAR_008949
Natural varianti539 – 5391R → W in LQT1; minor changes of wt current (homomultimers); positive voltage shift of the channel activation (heteromultimers). 2 Publications
VAR_008950
Natural varianti546 – 5461S → L in LQT1. 1 Publication
VAR_068317
Natural varianti555 – 5551R → C in LQT1; associated with a fruste phenotype. 1 Publication
VAR_001545
Natural varianti555 – 5551R → H in LQT1. 1 Publication
VAR_068318
Natural varianti566 – 5661S → F in LQT1.
VAR_009932
Natural varianti566 – 5661S → Y in LQT1. 1 Publication
VAR_068319
Natural varianti567 – 5671I → S in LQT1. 1 Publication
VAR_068320
Natural varianti568 – 5681G → R in LQT1. 1 Publication
VAR_068321
Natural varianti583 – 5831R → C in LQT1.
Corresponds to variant rs17221854 [ dbSNP | Ensembl ].
VAR_009933
Natural varianti587 – 5871T → M in LQT1. 2 Publications
VAR_008951
Natural varianti589 – 5891G → D in LQT1; reduced cell surface expression and strongly reduced potassium current. 1 Publication
VAR_008952
Natural varianti590 – 5901A → T in LQT1. 1 Publication
VAR_068322
Natural varianti591 – 5911R → H in LQT1. 2 Publications
VAR_008953
Natural varianti594 – 5941R → Q in LQT1. 1 Publication
VAR_009934
Natural varianti619 – 6191L → M in LQT1. 1 Publication
VAR_068323
Natural varianti626 – 6261G → S in LQT1. 1 Publication
VAR_068324
Natural varianti643 – 6431G → S.1 Publication
Corresponds to variant rs1800172 [ dbSNP | Ensembl ].
VAR_008954

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 127127Missing in isoform 2. VSP_000981Add
BLAST
Alternative sequencei128 – 1292AV → MD in isoform 2. VSP_000982

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti64 – 652PA → HV in CAB44649. 1 Publication
Sequence conflicti96 – 10611TRRPVLARTHV → METRGSRLTGG in AAC51781. 1 PublicationAdd
BLAST
Sequence conflicti370 – 3701Missing in AAC05705. 1 Publication
Sequence conflicti607 – 6082AL → VI in AAM94040. 1 Publication
Sequence conflicti619 – 64426LHGGS…QPCGS → MQQGGPTCNSRSQVVASNE in AAM94040. 1 PublicationAdd
BLAST
Sequence conflicti648 – 6492VD → IN in AAM94040. 1 Publication
Sequence conflicti658 – 6581T → S in AAM94040. 1 Publication
Sequence conflicti669 – 6702RR → QT in AAM94040. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
AK290618 mRNA. Translation: BAF83307.1.
CH471158 Genomic DNA. Translation: EAX02517.1.
BC113545 mRNA. Translation: AAI13546.1.
CCDSiCCDS7736.1. [P51787-1]
RefSeqiNP_000209.2. NM_000218.2. [P51787-1]
NP_861463.1. NM_181798.1. [P51787-2]
UniGeneiHs.95162.

Genome annotation databases

EnsembliENST00000155840; ENSP00000155840; ENSG00000053918. [P51787-1]
ENST00000335475; ENSP00000334497; ENSG00000053918. [P51787-2]
GeneIDi3784.
KEGGihsa:3784.
UCSCiuc001lwn.3. human. [P51787-1]

Polymorphism databases

DMDMi6166005.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

KvLQT1 entry

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF000571 mRNA. Translation: