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HUMAN:KCNQ1
Contents
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 |
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 |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
GO:0006813 |
potassium ion transport |
ECO:0000315 |
P |
Maintains potassium uptake, dysfunction causes disease. |
complete | |||||
involved_in |
GO:0098914 |
membrane repolarization during atrial cardiac muscle cell action potential |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0045121 |
membrane raft |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0015271 |
outward rectifier potassium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0045121 |
membrane raft |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005783 |
endoplasmic reticulum |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0034702 |
ion channel complex |
ECO:0000353 |
physical interaction evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
colocalizes_with |
GO:0005783 |
endoplasmic reticulum |
ECO:0000353 |
physical interaction evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0044325 |
ion channel binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0005546 |
phosphatidylinositol-4,5-bisphosphate binding |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0005737 |
cytoplasm |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0005251 |
delayed rectifier potassium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0005886 |
plasma membrane |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0044325 |
ion channel binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0005251 |
delayed rectifier potassium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0005886 |
plasma membrane |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0044325 |
ion channel binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0015271 |
outward rectifier potassium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0005886 |
plasma membrane |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005886 |
plasma membrane |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005783 |
endoplasmic reticulum |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005886 |
plasma membrane |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0048839 |
inner ear development |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0050892 |
intestinal absorption |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0070293 |
renal absorption |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0060453 |
regulation of gastric acid secretion |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0005886 |
plasma membrane |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0005251 |
delayed rectifier potassium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0016323 |
basolateral plasma membrane |
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 |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0005249 |
voltage-gated potassium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0044325 |
ion channel binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0044325 |
ion channel binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0015271 |
outward rectifier potassium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0008076 |
voltage-gated potassium channel complex |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0010460 |
positive regulation of heart rate |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0086011 |
membrane repolarization during action potential |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
contributes_to |
GO:0005251 |
delayed rectifier potassium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0060452 |
positive regulation of cardiac muscle contraction |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0071320 |
cellular response to cAMP |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0097110 |
scaffold protein binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0071805 |
potassium ion transmembrane transport |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
contributes_to |
GO:0005249 |
voltage-gated potassium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0008076 |
voltage-gated potassium channel complex |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0071320 |
cellular response to cAMP |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0097110 |
scaffold protein binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
colocalizes_with |
GO:0005769 |
early endosome |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005886 |
plasma membrane |
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 |
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 |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0097110 |
scaffold protein binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
occurs_in:(UBERON:0000948) |
Seeded From UniProt |
complete | ||
involved_in |
GO:0086091 |
regulation of heart rate by cardiac conduction |
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 |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0086014 |
atrial cardiac muscle cell action potential |
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 |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0086011 |
membrane repolarization during action potential |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0086011 |
membrane repolarization during action potential |
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 |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0086005 |
ventricular cardiac muscle cell action potential |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0071805 |
potassium ion transmembrane transport |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0071805 |
potassium ion transmembrane transport |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0097623 |
potassium ion export across plasma membrane |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0097623 |
potassium ion export across plasma membrane |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0097623 |
potassium ion export across plasma membrane |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0071320 |
cellular response to cAMP |
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 |
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 |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0060306 |
regulation of membrane repolarization |
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 |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0060048 |
cardiac muscle contraction |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0044325 |
ion channel binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0035690 |
cellular response to drug |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0034237 |
protein kinase A regulatory subunit binding |
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 |
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 |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0008157 |
protein phosphatase 1 binding |
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 |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0008076 |
voltage-gated potassium channel complex |
ECO:0000305 |
curator inference used in manual assertion |
GO:0005251 |
C |
Seeded From UniProt |
complete | ||
involved_in |
GO:0008016 |
regulation of heart contraction |
ECO:0000305 |
curator inference used in manual assertion |
GO:0005251 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0005770 |
late endosome |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005769 |
early endosome |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005764 |
lysosome |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0005516 |
calmodulin binding |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
contributes_to |
GO:0005251 |
delayed rectifier potassium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
contributes_to |
GO:0005251 |
delayed rectifier potassium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
contributes_to |
GO:0005251 |
delayed rectifier potassium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0005251 |
delayed rectifier potassium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
contributes_to |
GO:0005251 |
delayed rectifier potassium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0005249 |
voltage-gated potassium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0005249 |
voltage-gated potassium channel activity |
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 |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN000165609 |
F |
Seeded From UniProt |
complete | ||
involved_in |
GO:0097623 |
potassium ion export across plasma membrane |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN000165609 |
P |
Seeded From UniProt |
complete | ||
enables |
GO:0086089 |
voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN000165609 |
F |
Seeded From UniProt |
complete | ||
involved_in |
GO:0071805 |
potassium ion transmembrane transport |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:102663 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0016021 |
integral component of membrane |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
FB:FBgn0003380 |
C |
Seeded From UniProt |
complete | ||
enables |
GO:0015271 |
outward rectifier potassium channel activity |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN000165609 |
F |
Seeded From UniProt |
complete | ||
part_of |
GO:0008076 |
voltage-gated potassium channel complex |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
FB:FBgn0003380 |
C |
Seeded From UniProt |
complete | ||
enables |
GO:0005516 |
calmodulin binding |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:1309503 |
F |
Seeded From UniProt |
complete | ||
enables |
GO:0005251 |
delayed rectifier potassium channel activity |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN000899150 |
F |
Seeded From UniProt |
complete | ||
enables |
GO:0005249 |
voltage-gated potassium channel activity |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:108083 |
F |
Seeded From UniProt |
complete | ||
involved_in |
GO:0086009 |
membrane repolarization |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97414 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0072358 |
cardiovascular system development |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97414 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0070293 |
renal absorption |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97414 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0060453 |
regulation of gastric acid secretion |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97414 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0048839 |
inner ear development |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97414 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0016458 |
gene silencing |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97414 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0006349 |
regulation of gene expression by genetic imprinting |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97414 |
P |
Seeded From UniProt |
complete | ||
enables |
GO:0005249 |
voltage-gated potassium channel activity |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97414 |
F |
Seeded From UniProt |
complete | ||
enables |
GO:0005216 |
ion channel activity |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0005249 |
voltage-gated potassium channel activity |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006811 |
ion transport |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006813 |
potassium ion transport |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0008076 |
voltage-gated potassium channel complex |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0016020 |
membrane |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0055085 |
transmembrane transport |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0005249 |
voltage-gated potassium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0071805 |
potassium ion transmembrane transport |
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 |
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 |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0007605 |
sensory perception of sound |
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 |
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 |
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 |
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 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
|
C |
Seeded From UniProt |
complete | |
part_of |
GO:0005886 |
plasma membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006811 |
ion transport |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0005783 |
endoplasmic reticulum |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005768 |
endosome |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0071805 |
potassium ion transmembrane transport |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0034765 |
regulation of ion transmembrane transport |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0005244 |
voltage-gated ion channel activity |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0005516 |
calmodulin binding |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0005267 |
potassium channel activity |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0031410 |
cytoplasmic vesicle |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0016020 |
membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006813 |
potassium ion transport |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0016021 |
integral component of membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0016323 |
basolateral plasma membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005769 |
early endosome |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0045121 |
membrane raft |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0030659 |
cytoplasmic vesicle membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 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
- ↑ 2.0 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
- ↑ 3.0 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
- ↑ 4.0 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
- ↑ 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
- ↑ 6.0 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
- ↑ 7.0 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
- ↑ 8.0 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
- ↑ 9.0 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
- ↑ 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
- ↑ 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
- ↑ Schroeder, BC et al. (2000) A constitutively open potassium channel formed by KCNQ1 and KCNE3. Nature 403 196-9 PubMed GONUTS page
- ↑ 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
- ↑ 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
- ↑ 15.0 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
- ↑ 16.0 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
- ↑ 17.0 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
- ↑ 18.0 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
- ↑ 19.0 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
- ↑ 20.0 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
- ↑ 21.0 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
- ↑ 22.0 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
- ↑ 23.0 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
- ↑ 24.0 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
- ↑ 25.0 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
- ↑ 26.0 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
- ↑ Angelo, K et al. (2002) KCNE5 induces time- and voltage-dependent modulation of the KCNQ1 current. Biophys. J. 83 1997-2006 PubMed GONUTS page
- ↑ 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
- ↑ 29.0 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
- ↑ 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
- ↑ 31.0 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
- ↑ 32.0 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
- ↑ 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
c
- GO:0005516 ! calmodulin binding
- GO:0061337 ! cardiac conduction
- GO:0060048 ! cardiac muscle contraction
- GO:0072358 ! cardiovascular system development
- Catarrhini
- GO:0035690 ! cellular response to drug
- GO:0071872 ! cellular response to epinephrine stimulus
- GO:0071320 ! cellular response to cAMP
- Chordata
- Craniata
- GO:0005737 ! cytoplasm
- GO:0030659 ! cytoplasmic vesicle membrane
- GO:0031410 ! cytoplasmic vesicle
e
i
m
- Mammalia
- GO:0016020 ! membrane
- GO:0045121 ! membrane raft
- GO:0086009 ! membrane repolarization
- GO:0098914 ! membrane repolarization during atrial cardiac muscle cell action potential
- GO:0086011 ! membrane repolarization during action potential
- GO:0086013 ! membrane repolarization during cardiac muscle cell action potential
- GO:0098915 ! membrane repolarization during ventricular cardiac muscle cell action potential
- Metazoa
- GO:0005216 ! monoatomic ion channel activity
- GO:0006811 ! monoatomic ion transport
- GO:0034702 ! monoatomic ion channel complex
n
o
p
- GO:0005546 ! phosphatidylinositol-4,5-bisphosphate binding
- GO:0005886 ! plasma membrane
- GO:0010460 ! positive regulation of heart rate
- GO:0060452 ! positive regulation of cardiac muscle contraction
- GO:1901381 ! positive regulation of potassium ion transmembrane transport
- GO:0005267 ! potassium channel activity
- GO:0097623 ! potassium ion export across plasma membrane
- GO:0006813 ! potassium ion transport
- GO:0071805 ! potassium ion transmembrane transport
- Primates
- GO:0034236 ! protein kinase A catalytic subunit binding
- GO:0034237 ! protein kinase A regulatory subunit binding
- GO:0008157 ! protein phosphatase 1 binding
r
- GO:0060306 ! regulation of membrane repolarization
- GO:0060307 ! regulation of ventricular cardiac muscle cell membrane repolarization
- GO:0034765 ! regulation of monoatomic ion transmembrane transport
- GO:0060372 ! regulation of atrial cardiac muscle cell membrane repolarization
- GO:0008016 ! regulation of heart contraction
- GO:0086091 ! regulation of heart rate by cardiac conduction
- GO:0060453 ! regulation of gastric acid secretion
- GO:0070293 ! renal absorption
v
- GO:0086005 ! ventricular cardiac muscle cell action potential
- Vertebrata
- GO:0086008 ! voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization
- GO:0005249 ! voltage-gated potassium channel activity
- GO:0008076 ! voltage-gated potassium channel complex
- GO:1902282 ! voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization
- GO:0086089 ! voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization
- GO:0005244 ! voltage-gated monoatomic ion channel activity