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HUMAN:KCNQ1

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) KCNQ1 (ECO:0000312 with HGNC:HGNC:6294)
Protein Name(s) Potassium voltage-gated channel subfamily KQT member 1 (ECO:0000305)

IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1 (ECO:0000305 with PMID:9312006[1]) KQT-like 1 (ECO:0000305) Voltage-gated potassium channel subunit Kv7.1 (ECO:0000305 with PMID:20533308[2])

External Links
UniProt P51787
EMBL AF000571
AF051426
AB015163
AB015163
AJ006345
AJ006345
AY114213
AK290618
AC013791
AC021424
AC124055
AC124057
AP006463
KF455303
KF455304
KF455305
KF455306
KF459741
CH471158
BC113545
U86146
U89364
CCDS CCDS7736.1
RefSeq NP_000209.2
NP_861463.1
UniGene Hs.95162
PDB 3BJ4
3HFC
3HFE
4UMO
4V0C
PDBsum 3BJ4
3HFC
3HFE
4UMO
4V0C
ProteinModelPortal P51787
SMR P51787
BioGrid 109985
DIP DIP-27591N
DIP-29941N
IntAct P51787
MINT MINT-1145466
STRING 9606.ENSP00000155840
BindingDB P51787
ChEMBL CHEMBL1866
DrugBank DB04957
DB01244
DB06089
DB00808
GuidetoPHARMACOLOGY 560
TCDB 1.A.1.15.6
iPTMnet P51787
PhosphoSitePlus P51787
BioMuta KCNQ1
DMDM 6166005
PaxDb P51787
PeptideAtlas P51787
PRIDE P51787
DNASU 3784
Ensembl ENST00000155840
ENST00000335475
GeneID 3784
KEGG hsa:3784
UCSC uc001lwn.4
CTD 3784
DisGeNET 3784
GeneCards KCNQ1
GeneReviews KCNQ1
HGNC HGNC:6294
HPA CAB018656
HPA048553
MalaCards KCNQ1
MIM 125853
192500
220400
607542
607554
609621
neXtProt NX_P51787
OpenTargets ENSG00000053918
Orphanet 334
51083
90647
101016
PharmGKB PA223
eggNOG KOG1419
COG1226
GeneTree ENSGT00550000074513
HOGENOM HOG000220839
HOVERGEN HBG059014
InParanoid P51787
KO K04926
OMA EVSTPHF
OrthoDB EOG091G02ZT
PhylomeDB P51787
TreeFam TF315186
Reactome [www.reactome.org/content/detail/R-HSA-1296072 R-HSA-1296072]
[www.reactome.org/content/detail/R-HSA-5576890 R-HSA-5576890]
[www.reactome.org/content/detail/R-HSA-5576893 R-HSA-5576893]
SignaLink P51787
ChiTaRS KCNQ1
EvolutionaryTrace P51787
GeneWiki KvLQT1
GenomeRNAi 3784
PRO PR:P51787
Proteomes UP000005640
Bgee ENSG00000053918
CleanEx HS_KCNQ1
ExpressionAtlas P51787
Genevisible P51787
GO GO:0016323
GO:0005737
GO:0030659
GO:0005769
GO:0005783
GO:0034702
GO:0005770
GO:0005764
GO:0045121
GO:0005886
GO:0008076
GO:0005516
GO:0005251
GO:0044325
GO:0015271
GO:0005546
GO:0034236
GO:0034237
GO:0008157
GO:0097110
GO:0005249
GO:0086089
GO:0086008
GO:1902282
GO:0086014
GO:0061337
GO:0060048
GO:0072358
GO:0071320
GO:0035690
GO:0071872
GO:0016458
GO:0048839
GO:0050892
GO:0086011
GO:0098914
GO:0086013
GO:0098915
GO:1902260
GO:1903817
GO:0060452
GO:0010460
GO:1901381
GO:0071435
GO:0097623
GO:0071805
GO:0060372
GO:0060453
GO:0006349
GO:0008016
GO:0086091
GO:0060306
GO:0060307
GO:0070293
GO:0007605
GO:0086005
Gene3D 1.20.120.350
InterPro IPR027359
IPR005821
IPR003937
IPR013821
IPR005827
IPR028325
PANTHER PTHR11537
PTHR11537:SF189
Pfam PF00520
PF03520
PRINTS PR00169
PR01460
PR01459

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

involved_in

GO:0098914

membrane repolarization during atrial cardiac muscle cell action potential

PMID:12522251[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0086089

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

PMID:25786344[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

GO:0006813

potassium ion transport

PMID:28264985[5]

ECO:0000315

P

Maintains potassium uptake, dysfunction causes disease.

complete
CACAO 12783

involved_in

GO:0098914

membrane repolarization during atrial cardiac muscle cell action potential

PMID:25786344[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0045121

membrane raft

PMID:20533308[2]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0015271

outward rectifier potassium channel activity

PMID:25705178[6]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0045121

membrane raft

PMID:24855057[7]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005783

endoplasmic reticulum

PMID:24855057[7]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0034702

ion channel complex

PMID:24855057[7]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q9NR82

C

Seeded From UniProt

complete

colocalizes_with

GO:0005783

endoplasmic reticulum

PMID:24855057[7]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q9NR82

C

Seeded From UniProt

complete

enables

GO:0044325

ion channel binding

PMID:24855057[7]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q9NR82

F

Seeded From UniProt

complete

enables

GO:0005546

phosphatidylinositol-4,5-bisphosphate binding

PMID:25037568[8]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

PMID:25037568[8]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0005251

delayed rectifier potassium channel activity

PMID:25037568[8]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

PMID:25037568[8]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0044325

ion channel binding

PMID:25037568[8]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P15382

F

Seeded From UniProt

complete

enables

GO:0005251

delayed rectifier potassium channel activity

PMID:24184248[9]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

PMID:24184248[9]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0044325

ion channel binding

PMID:20196769[10]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P15382

F

Seeded From UniProt

complete

enables

GO:0015271

outward rectifier potassium channel activity

PMID:9312006[1]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

PMID:22024150[11]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

PMID:10646604[12]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005783

endoplasmic reticulum

PMID:21228319[13]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

PMID:21228319[13]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0048839

inner ear development

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97414

P

Seeded From UniProt

complete

involved_in

GO:0050892

intestinal absorption

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q9Z0N7

P

Seeded From UniProt

complete

involved_in

GO:0070293

renal absorption

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97414

P

Seeded From UniProt

complete

involved_in

GO:0060453

regulation of gastric acid secretion

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97414

P

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

PMID:25705178[6]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0005251

delayed rectifier potassium channel activity

PMID:24269949[14]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0016323

basolateral plasma membrane

PMID:21228319[13]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0098915

membrane repolarization during ventricular cardiac muscle cell action potential

PMID:8528244[15]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0005249

voltage-gated potassium channel activity

PMID:24855057[7]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0044325

ion channel binding

PMID:11101505[16]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P15382
UniProtKB:Q9Y6J6

F

Seeded From UniProt

complete

enables

GO:0044325

ion channel binding

PMID:11101505[16]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P15382

F

Seeded From UniProt

complete

enables

GO:0015271

outward rectifier potassium channel activity

PMID:11101505[16]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0008076

voltage-gated potassium channel complex

PMID:19646991[17]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0010460

positive regulation of heart rate

PMID:19646991[17]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0086011

membrane repolarization during action potential

PMID:19646991[17]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

contributes_to

GO:0005251

delayed rectifier potassium channel activity

PMID:19646991[17]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0060452

positive regulation of cardiac muscle contraction

PMID:19646991[17]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0071320

cellular response to cAMP

PMID:18093912[18]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0097110

scaffold protein binding

PMID:18093912[18]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q99996

F

Seeded From UniProt

complete

involved_in

GO:0071805

potassium ion transmembrane transport

PMID:16002409[19]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

contributes_to

GO:0005249

voltage-gated potassium channel activity

PMID:16002409[19]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0008076

voltage-gated potassium channel complex

PMID:16002409[19]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0071320

cellular response to cAMP

PMID:16002409[19]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0097110

scaffold protein binding

PMID:16002409[19]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q99996

F

Seeded From UniProt

complete

colocalizes_with

GO:0005769

early endosome

PMID:23529131[20]

ECO:0000315

mutant phenotype evidence used in manual assertion

UniProtKB:P20339

C

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

PMID:23529131[20]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:1902282

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

PMID:8528244[15]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:1901381

positive regulation of potassium ion transmembrane transport

PMID:8900283[21]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0097110

scaffold protein binding

PMID:11799244[22]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q99996

F

occurs_in:(UBERON:0000948)

Seeded From UniProt

complete

involved_in

GO:0086091

regulation of heart rate by cardiac conduction

PMID:8528244[15]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0086089

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

PMID:12522251[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0086014

atrial cardiac muscle cell action potential

PMID:12522251[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0086013

membrane repolarization during cardiac muscle cell action potential

PMID:8528244[15]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0086011

membrane repolarization during action potential

PMID:11299204[23]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0086011

membrane repolarization during action potential

PMID:8900283[21]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0086008

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

PMID:12522251[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0086005

ventricular cardiac muscle cell action potential

PMID:8528244[15]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0071805

potassium ion transmembrane transport

PMID:11299204[23]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0071805

potassium ion transmembrane transport

PMID:9354802[24]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0097623

potassium ion export across plasma membrane

PMID:17289006[25]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0097623

potassium ion export across plasma membrane

PMID:10400998[26]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0097623

potassium ion export across plasma membrane

PMID:8900283[21]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0071320

cellular response to cAMP

PMID:11299204[23]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0060372

regulation of atrial cardiac muscle cell membrane repolarization

PMID:12522251[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0060307

regulation of ventricular cardiac muscle cell membrane repolarization

PMID:8528244[15]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0060306

regulation of membrane repolarization

PMID:8900283[21]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

occurs_in:(CL:0000746)

Seeded From UniProt

complete

involved_in

GO:0060306

regulation of membrane repolarization

PMID:11299204[23]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0060048

cardiac muscle contraction

PMID:8528244[15]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0044325

ion channel binding

PMID:12324418[27]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q9UJ90

F

Seeded From UniProt

complete

involved_in

GO:0035690

cellular response to drug

PMID:9108097[28]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0034237

protein kinase A regulatory subunit binding

PMID:11799244[22]

ECO:0000314

direct assay evidence used in manual assertion

F

occurs_in:(UBERON:0000948)

Seeded From UniProt

complete

enables

GO:0034236

protein kinase A catalytic subunit binding

PMID:11799244[22]

ECO:0000314

direct assay evidence used in manual assertion

F

occurs_in:(UBERON:0000948)

Seeded From UniProt

complete

part_of

GO:0016323

basolateral plasma membrane

PMID:21957902[29]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0008157

protein phosphatase 1 binding

PMID:11799244[22]

ECO:0000314

direct assay evidence used in manual assertion

F

occurs_in:(UBERON:0000948)

Seeded From UniProt

complete

part_of

GO:0008076

voltage-gated potassium channel complex

PMID:17289006[25]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0008076

voltage-gated potassium channel complex

PMID:8900283[21]

ECO:0000305

curator inference used in manual assertion

GO:0005251

C

Seeded From UniProt

complete

involved_in

GO:0008016

regulation of heart contraction

PMID:8900283[21]

ECO:0000305

curator inference used in manual assertion

GO:0005251

P

Seeded From UniProt

complete

part_of

GO:0005770

late endosome

PMID:21957902[29]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005769

early endosome

PMID:21957902[29]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005764

lysosome

PMID:21957902[29]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0005516

calmodulin binding

PMID:18165683[30]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

contributes_to

GO:0005251

delayed rectifier potassium channel activity

PMID:11299204[23]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

contributes_to

GO:0005251

delayed rectifier potassium channel activity

PMID:9354802[24]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

contributes_to

GO:0005251

delayed rectifier potassium channel activity

PMID:10400998[26]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0005251

delayed rectifier potassium channel activity

PMID:12522251[3]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

contributes_to

GO:0005251

delayed rectifier potassium channel activity

PMID:8900283[21]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0005249

voltage-gated potassium channel activity

PMID:17289006[25]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0005249

voltage-gated potassium channel activity

PMID:8900283[21]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:1902282

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

PMID:21873635[31]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000165609
UniProtKB:P51787

F

Seeded From UniProt

complete

involved_in

GO:0097623

potassium ion export across plasma membrane

PMID:21873635[31]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000165609
UniProtKB:P51787

P

Seeded From UniProt

complete

enables

GO:0086089

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

PMID:21873635[31]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000165609
UniProtKB:P51787

F

Seeded From UniProt

complete

involved_in

GO:0071805

potassium ion transmembrane transport

PMID:21873635[31]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:102663
MGI:MGI:1336181
MGI:MGI:96654
MGI:MGI:96659
MGI:MGI:96666
PANTHER:PTN000164970
RGD:2949
RGD:2950
RGD:2951
RGD:2952
RGD:2953
RGD:2954
RGD:2955
RGD:62083
RGD:621349
RGD:621504
RGD:628829
RGD:631416
RGD:68393
RGD:69222
UniProtKB:O43525
UniProtKB:O43526
UniProtKB:P16389
UniProtKB:P17658
UniProtKB:P22459
UniProtKB:P22460
UniProtKB:P51787
UniProtKB:Q09470
UniProtKB:Q14003
UniProtKB:Q14721
UniProtKB:Q8TAE7
UniProtKB:Q8TDN1
UniProtKB:Q9NR82
UniProtKB:Q9NZV8
UniProtKB:Q9UIX4
WB:WBGene00001374
WB:WBGene00014261

P

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

PMID:21873635[31]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0003380
FB:FBgn0033494
PANTHER:PTN000164970
RGD:2952

C

Seeded From UniProt

complete

enables

GO:0015271

outward rectifier potassium channel activity

PMID:21873635[31]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000165609
RGD:621503
UniProtKB:P51787

F

Seeded From UniProt

complete

part_of

GO:0008076

voltage-gated potassium channel complex

PMID:21873635[31]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0003380
MGI:MGI:102663
MGI:MGI:1197011
MGI:MGI:1197019
MGI:MGI:1309503
MGI:MGI:1336181
MGI:MGI:96654
MGI:MGI:96659
MGI:MGI:96666
PANTHER:PTN001355853
RGD:2949
RGD:2950
RGD:2952
RGD:2953
RGD:2954
RGD:2955
RGD:62083
RGD:621349
RGD:621503
RGD:621504
RGD:628829
RGD:631416
RGD:68393
RGD:68394
RGD:69222
UniProtKB:O43525
UniProtKB:O43526
UniProtKB:P16389
UniProtKB:P22459
UniProtKB:P22460
UniProtKB:P48547
UniProtKB:P51787
UniProtKB:Q09470
UniProtKB:Q14003
UniProtKB:Q14721
UniProtKB:Q8TAE7
UniProtKB:Q8TDN1
UniProtKB:Q96KK3
UniProtKB:Q9NR82
UniProtKB:Q9NZV8
UniProtKB:Q9UIX4
UniProtKB:Q9UK17

C

Seeded From UniProt

complete

enables

GO:0005516

calmodulin binding

PMID:21873635[31]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1309503
MGI:MGI:1336181
PANTHER:PTN000899150
RGD:69222
UniProtKB:O43525
UniProtKB:O43526
UniProtKB:P51787

F

Seeded From UniProt

complete

enables

GO:0005251

delayed rectifier potassium channel activity

PMID:21873635[31]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000899150
RGD:621503
UniProtKB:P51787

F

Seeded From UniProt

complete

enables

GO:0005249

voltage-gated potassium channel activity

PMID:21873635[31]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:108083
MGI:MGI:1924937
MGI:MGI:1926803
MGI:MGI:96654
MGI:MGI:96659
MGI:MGI:96662
PANTHER:PTN000164970
RGD:2949
RGD:2950
RGD:2951
RGD:2952
RGD:2954
RGD:621504
RGD:628829
RGD:628832
RGD:628848
RGD:68393
RGD:68394
RGD:69222
UniProtKB:O43525
UniProtKB:O43526
UniProtKB:P16389
UniProtKB:P22459
UniProtKB:P51787
UniProtKB:Q09470
UniProtKB:Q14003
UniProtKB:Q9NR82
UniProtKB:Q9NZV8
WB:WBGene00004793
ZFIN:ZDB-GENE-030131-5626

F

Seeded From UniProt

complete

involved_in

GO:0086009

membrane repolarization

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97414
ensembl:ENSMUSP00000009689

P

Seeded From UniProt

complete

involved_in

GO:0072358

cardiovascular system development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97414
ensembl:ENSMUSP00000009689

P

Seeded From UniProt

complete

involved_in

GO:0070293

renal absorption

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97414
ensembl:ENSMUSP00000009689

P

Seeded From UniProt

complete

involved_in

GO:0060453

regulation of gastric acid secretion

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97414
ensembl:ENSMUSP00000009689

P

Seeded From UniProt

complete

involved_in

GO:0048839

inner ear development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97414
ensembl:ENSMUSP00000009689

P

Seeded From UniProt

complete

involved_in

GO:0016458

gene silencing

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97414
ensembl:ENSMUSP00000009689

P

Seeded From UniProt

complete

involved_in

GO:0006349

regulation of gene expression by genetic imprinting

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97414
ensembl:ENSMUSP00000009689

P

Seeded From UniProt

complete

enables

GO:0005249

voltage-gated potassium channel activity

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97414
ensembl:ENSMUSP00000009689

F

Seeded From UniProt

complete

enables

GO:0005216

ion channel activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR005821

F

Seeded From UniProt

complete

enables

GO:0005249

voltage-gated potassium channel activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR003937
InterPro:IPR005827
InterPro:IPR028325

F

Seeded From UniProt

complete

involved_in

GO:0006811

ion transport

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR005821

P

Seeded From UniProt

complete

involved_in

GO:0006813

potassium ion transport

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR003937
InterPro:IPR005827
InterPro:IPR028325

P

Seeded From UniProt

complete

part_of

GO:0008076

voltage-gated potassium channel complex

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR005827
InterPro:IPR028325

C

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR003937
InterPro:IPR005821

C

Seeded From UniProt

complete

involved_in

GO:0055085

transmembrane transport

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR005821

P

Seeded From UniProt

complete

enables

GO:0005249

voltage-gated potassium channel activity

PMID:9305853[32]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0071805

potassium ion transmembrane transport

GO_REF:0000108

ECO:0000364

evidence based on logical inference from manual annotation used in automatic assertion

GO:0005249

P

Seeded From UniProt

complete

involved_in

GO:1902260

negative regulation of delayed rectifier potassium channel activity

PMID:9305853[32]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:1903817

negative regulation of voltage-gated potassium channel activity

PMID:9305853[32]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0007605

sensory perception of sound

PMID:9020846[33]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0086013

membrane repolarization during cardiac muscle cell action potential

PMID:11299204[23]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0071872

cellular response to epinephrine stimulus

PMID:11799244[22]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0061337

cardiac conduction

Reactome:R-HSA-5576893
Reactome:R-HSA-5576890

ECO:0000304

author statement supported by traceable reference used in manual assertion


P

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

Reactome:R-HSA-5577050
Reactome:R-HSA-1296127

ECO:0000304

author statement supported by traceable reference used in manual assertion


C

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-1003
UniProtKB-SubCell:SL-0039

C

Seeded From UniProt

complete

involved_in

GO:0006811

ion transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0406

P

Seeded From UniProt

complete

part_of

GO:0005783

endoplasmic reticulum

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0256
UniProtKB-SubCell:SL-0095

C

Seeded From UniProt

complete

part_of

GO:0005768

endosome

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0967

C

Seeded From UniProt

complete

involved_in

GO:0071805

potassium ion transmembrane transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0631

P

Seeded From UniProt

complete

involved_in

GO:0034765

regulation of ion transmembrane transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0851

P

Seeded From UniProt

complete

enables

GO:0005244

voltage-gated ion channel activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0851

F

Seeded From UniProt

complete

enables

GO:0005516

calmodulin binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0112

F

Seeded From UniProt

complete

enables

GO:0005267

potassium channel activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0631

F

Seeded From UniProt

complete

part_of

GO:0031410

cytoplasmic vesicle

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0968

C

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0472

C

Seeded From UniProt

complete

involved_in

GO:0006813

potassium ion transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0633

P

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0812

C

Seeded From UniProt

complete

part_of

GO:0016323

basolateral plasma membrane

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0026

C

Seeded From UniProt

complete

part_of

GO:0005769

early endosome

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0094

C

Seeded From UniProt

complete

part_of

GO:0045121

membrane raft

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0370

C

Seeded From UniProt

complete

part_of

GO:0030659

cytoplasmic vesicle membrane

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0089

C

Seeded From UniProt

complete

Notes

References

See Help:References for how to manage references in GONUTS.

  1. 1.0 1.1 Chouabe, C et al. (1997) Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. EMBO J. 16 5472-9 PubMed GONUTS page
  2. 2.0 2.1 Roura-Ferrer, M et al. (2010) Impact of KCNE subunits on KCNQ1 (Kv7.1) channel membrane surface targeting. J. Cell. Physiol. 225 692-700 PubMed GONUTS page
  3. 3.0 3.1 3.2 3.3 3.4 3.5 Chen, YH et al. (2003) KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science 299 251-4 PubMed GONUTS page
  4. 4.0 4.1 Steffensen, AB et al. (2015) IKs Gain- and Loss-of-Function in Early-Onset Lone Atrial Fibrillation. J. Cardiovasc. Electrophysiol. 26 715-23 PubMed GONUTS page
  5. Kapplinger, JD et al. (2017) KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1. J. Med. Genet. PubMed GONUTS page
  6. 6.0 6.1 Mousavi Nik, A et al. (2015) Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome. Front Cell Neurosci 9 32 PubMed GONUTS page
  7. 7.0 7.1 7.2 7.3 7.4 7.5 Oliveras, A et al. (2014) Functional assembly of Kv7.1/Kv7.5 channels with emerging properties on vascular muscle physiology. Arterioscler. Thromb. Vasc. Biol. 34 1522-30 PubMed GONUTS page
  8. 8.0 8.1 8.2 8.3 8.4 Dvir, M et al. (2014) Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP₂. J. Cell. Sci. 127 3943-55 PubMed GONUTS page
  9. 9.0 9.1 Wu, J et al. (2014) A molecular mechanism for adrenergic-induced long QT syndrome. J. Am. Coll. Cardiol. 63 819-27 PubMed GONUTS page
  10. Zheng, R et al. (2010) Analysis of the interactions between the C-terminal cytoplasmic domains of KCNQ1 and KCNE1 channel subunits. Biochem. J. 428 75-84 PubMed GONUTS page
  11. Krzystanek, K et al. (2012) Deubiquitylating enzyme USP2 counteracts Nedd4-2-mediated downregulation of KCNQ1 potassium channels. Heart Rhythm 9 440-8 PubMed GONUTS page
  12. Schroeder, BC et al. (2000) A constitutively open potassium channel formed by KCNQ1 and KCNE3. Nature 403 196-9 PubMed GONUTS page
  13. 13.0 13.1 13.2 Andersen, MN et al. (2011) Kv7.1 surface expression is regulated by epithelial cell polarization. Am. J. Physiol., Cell Physiol. 300 C814-24 PubMed GONUTS page
  14. Bartos, DC et al. (2014) A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation. Heart Rhythm 11 459-68 PubMed GONUTS page
  15. 15.0 15.1 15.2 15.3 15.4 15.5 15.6 Wang, Q et al. (1996) Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat. Genet. 12 17-23 PubMed GONUTS page
  16. 16.0 16.1 16.2 Tinel, N et al. (2000) KCNE2 confers background current characteristics to the cardiac KCNQ1 potassium channel. EMBO J. 19 6326-30 PubMed GONUTS page
  17. 17.0 17.1 17.2 17.3 17.4 Abraham, RL et al. (2010) Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation. J. Mol. Cell. Cardiol. 48 181-90 PubMed GONUTS page
  18. 18.0 18.1 Chen, L et al. (2007) Mutation of an A-kinase-anchoring protein causes long-QT syndrome. Proc. Natl. Acad. Sci. U.S.A. 104 20990-5 PubMed GONUTS page
  19. 19.0 19.1 19.2 19.3 19.4 Chen, L et al. (2005) Phosphorylation of the A-kinase-anchoring protein Yotiao contributes to protein kinase A regulation of a heart potassium channel. J. Biol. Chem. 280 31347-52 PubMed GONUTS page
  20. 20.0 20.1 Rapetti-Mauss, R et al. (2013) Oestrogen promotes KCNQ1 potassium channel endocytosis and postendocytic trafficking in colonic epithelium. J. Physiol. (Lond.) 591 2813-31 PubMed GONUTS page
  21. 21.0 21.1 21.2 21.3 21.4 21.5 21.6 21.7 Sanguinetti, MC et al. (1996) Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. Nature 384 80-3 PubMed GONUTS page
  22. 22.0 22.1 22.2 22.3 22.4 Marx, SO et al. (2002) Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel. Science 295 496-9 PubMed GONUTS page
  23. 23.0 23.1 23.2 23.3 23.4 23.5 Potet, F et al. (2001) AKAP proteins anchor cAMP-dependent protein kinase to KvLQT1/IsK channel complex. Am. J. Physiol. Heart Circ. Physiol. 280 H2038-45 PubMed GONUTS page
  24. 24.0 24.1 Splawski, I et al. (1997) Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nat. Genet. 17 338-40 PubMed GONUTS page
  25. 25.0 25.1 25.2 Jespersen, T et al. (2007) The KCNQ1 potassium channel is down-regulated by ubiquitylating enzymes of the Nedd4/Nedd4-like family. Cardiovasc. Res. 74 64-74 PubMed GONUTS page
  26. 26.0 26.1 Bianchi, L et al. (1999) Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome. Hum. Mol. Genet. 8 1499-507 PubMed GONUTS page
  27. Angelo, K et al. (2002) KCNE5 induces time- and voltage-dependent modulation of the KCNQ1 current. Biophys. J. 83 1997-2006 PubMed GONUTS page
  28. Yang, WP et al. (1997) KvLQT1, a voltage-gated potassium channel responsible for human cardiac arrhythmias. Proc. Natl. Acad. Sci. U.S.A. 94 4017-21 PubMed GONUTS page
  29. 29.0 29.1 29.2 29.3 Andersen, MN et al. (2012) AMP-activated protein kinase downregulates Kv7.1 cell surface expression. Traffic 13 143-56 PubMed GONUTS page
  30. Wiener, R et al. (2008) The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction. J. Biol. Chem. 283 5815-30 PubMed GONUTS page
  31. 31.0 31.1 31.2 31.3 31.4 31.5 31.6 31.7 31.8 31.9 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  32. 32.0 32.1 32.2 Jiang, M et al. (1997) Suppression of slow delayed rectifier current by a truncated isoform of KvLQT1 cloned from normal human heart. J. Biol. Chem. 272 24109-12 PubMed GONUTS page
  33. Neyroud, N et al. (1997) A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat. Genet. 15 186-9 PubMed GONUTS page