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P51787

- KCNQ1_HUMAN

UniProt

P51787 - KCNQ1_HUMAN

Protein

Potassium voltage-gated channel subfamily KQT member 1

Gene

KCNQ1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 164 (01 Oct 2014)
      Sequence version 3 (15 Jul 1999)
      Previous versions | rss
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    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

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

    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

    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.25 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.
    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). 1 Publication
    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).
    VAR_008942
    Natural varianti250 – 2501L → H in LQT1.
    VAR_008943
    Natural varianti254 – 2563Missing in LQT1. 1 Publication
    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.
    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). 1 Publication
    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. 1 Publication
    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.
    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.
    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.3 Publications
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

    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...)Sequence Analysis

    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.2 Publications

    Binary interactionsi

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

    Protein-protein interaction databases

    BioGridi109985. 16 interactions.
    DIPiDIP-27591N.
    DIP-29941N.
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP51787.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini143 – 1475ExtracellularSequence Analysis
    Topological domaini169 – 19628CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini218 – 2258ExtracellularSequence Analysis
    Topological domaini249 – 26113CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini283 – 29917ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini321 – 3277ExtracellularSequence Analysis
    Topological domaini349 – 676328CytoplasmicSequence AnalysisAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei300 – 32021Pore-forming; Name=Segment H5Sequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei122 – 14221Helical; Name=Segment S1Sequence AnalysisAdd
    BLAST
    Transmembranei148 – 16821Helical; Name=Segment S2Sequence AnalysisAdd
    BLAST
    Transmembranei197 – 21721Helical; Name=Segment S3Sequence AnalysisAdd
    BLAST
    Transmembranei226 – 24823Helical; Voltage-sensor; Name=Segment S4Sequence AnalysisAdd
    BLAST
    Transmembranei262 – 28221Helical; Name=Segment S5Sequence AnalysisAdd
    BLAST
    Transmembranei328 – 34821Helical; Name=Segment S6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Region

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

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili585 – 621371 PublicationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi312 – 3176Selectivity filterBy 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.
    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti64 – 652PA → HV in CAB44649. (PubMed:10024302)Curated
    Sequence conflicti96 – 10611TRRPVLARTHV → METRGSRLTGG in AAC51781. (PubMed:8900283)CuratedAdd
    BLAST
    Sequence conflicti370 – 3701Missing in AAC05705. (PubMed:9305853)Curated
    Sequence conflicti607 – 6082AL → VI in AAM94040. 1 PublicationCurated
    Sequence conflicti619 – 64426LHGGS…QPCGS → MQQGGPTCNSRSQVVASNE in AAM94040. 1 PublicationCuratedAdd
    BLAST
    Sequence conflicti648 – 6492VD → IN in AAM94040. 1 PublicationCurated
    Sequence conflicti658 – 6581T → S in AAM94040. 1 PublicationCurated
    Sequence conflicti669 – 6702RR → QT in AAM94040. 1 PublicationCurated

    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.
    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). 1 Publication
    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).
    VAR_008942
    Natural varianti250 – 2501L → H in LQT1.
    VAR_008943
    Natural varianti254 – 2563Missing in LQT1. 1 Publication
    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.
    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). 1 Publication
    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. 1 Publication
    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.
    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.
    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