AutismKB 2.0

Annotation Details for KCNQ1


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Basic Information Top
Gene Symbol:KCNQ1 ( ATFB1,ATFB3,FLJ26167,JLNS1,KCNA8,KCNA9,KVLQT1,Kv1.9,Kv7.1,LQT,LQT1,RWS,SQT2,WRS )
Gene Full Name: potassium voltage-gated channel, KQT-like subfamily, member 1
Band: 11p15.5-p15.4
Quick LinksEntrez ID:3784; OMIM: 607542; Uniprot ID:KCNQ1_HUMAN; ENSEMBL ID: ENSG00000053918; HGNC ID: 6294
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IDA-cytoplasm25037568
GO:0005764IDA-lysosome21957902
GO:0005769IDA-early endosome21957902
GO:0005769IMPcolocalizes_withearly endosome23529131
GO:0005770IDA-late endosome21957902
GO:0005783IDA-endoplasmic reticulum21228319
GO:0005783IPIcolocalizes_withendoplasmic reticulum24855057
GO:0005886IDA-plasma membrane10646604
GO:0005886TAS-plasma membrane-
GO:0008076IC-voltage-gated potassium channel complex8900283
GO:0008076IDA-voltage-gated potassium channel complex16002409
GO:0016323IDA-basolateral plasma membrane21228319
GO:0030659IEA-cytoplasmic vesicle membrane-
GO:0034702IPI-ion channel complex24855057
GO:0045121IDA-membrane raft20533308
GO ID Evidence Qualifier GO_term References
GO:0005249IDA-voltage-gated potassium channel activity8900283
GO:0005249IDAcontributes_tovoltage-gated potassium channel activity16002409
GO:0005251IDA-delayed rectifier potassium channel activity12522251
GO:0005251IDAcontributes_todelayed rectifier potassium channel activity8900283
GO:0005515IPI-protein binding19521339
GO:0005516IDA-calmodulin binding18165683
GO:0005546IDA-phosphatidylinositol-4,5-bisphosphate binding25037568
GO:0008157IDA-protein phosphatase 1 binding11799244
GO:0015271IDA-outward rectifier potassium channel activity9312006
GO:0034236IDA-protein kinase A catalytic subunit binding11799244
GO:0034237IDA-protein kinase A regulatory subunit binding11799244
GO:0044325IPI-ion channel binding11101505
GO:0086008IMP-voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization12522251
GO:0086089IMP-voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization12522251
GO:0097110IPI-scaffold protein binding11799244
GO:1902282IMP-voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization8528244
GO ID Evidence Qualifier GO_term References
GO:0006349IEA-regulation of gene expression by genetic imprinting-
GO:0007605TAS-sensory perception of sound9020846
GO:0008016IC-regulation of heart contraction8900283
GO:0010460IMP-positive regulation of heart rate19646991
GO:0016458IEA-gene silencing-
GO:0035690IDA-cellular response to drug9108097
GO:0048839ISS-inner ear development-
GO:0050892ISS-intestinal absorption-
GO:0060048IMP-cardiac muscle contraction8528244
GO:0060306IDA-regulation of membrane repolarization11299204
GO:0060306IMP-regulation of membrane repolarization8900283
GO:0060307IMP-regulation of ventricular cardiac muscle cell membrane repolarization8528244
GO:0060372IMP-regulation of atrial cardiac muscle cell membrane repolarization12522251
GO:0060452IMP-positive regulation of cardiac muscle contraction19646991
GO:0060453ISS-regulation of gastric acid secretion-
GO:0061337TAS-cardiac conduction-
GO:0070293ISS-renal absorption-
GO:0071320IDA-cellular response to cAMP11299204
GO:0071320IMP-cellular response to cAMP18093912
GO:0071435IDA-potassium ion export8900283
GO:0071805IDA-potassium ion transmembrane transport9354802
GO:0071872TAS-cellular response to epinephrine stimulus11799244
GO:0072358IEA-cardiovascular system development-
GO:0086005IMP-ventricular cardiac muscle cell action potential8528244
GO:0086011IDA-membrane repolarization during action potential8900283
GO:0086013IMP-membrane repolarization during cardiac muscle cell action potential8528244
GO:0086013TAS-membrane repolarization during cardiac muscle cell action potential11299204
GO:0086014IMP-atrial cardiac muscle cell action potential12522251
GO:0086091IMP-regulation of heart rate by cardiac conduction8528244
GO:0097623IDA-potassium ion export across plasma membrane17289006
GO:0098914IMP-membrane repolarization during atrial cardiac muscle cell action potential12522251
GO:0098915IMP-membrane repolarization during ventricular cardiac muscle cell action potential8528244
GO:1901381IDA-positive regulation of potassium ion transmembrane transport8900283
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
KCNQ1KCNE110998511101505 Reconstituted Complex
KCNQ1KCNE110995511101505 Reconstituted Complex
KCNE2KCNQ111531311101505 Reconstituted Complex
KCNE2KCNQ110998511101505 Reconstituted Complex
PRKAR2AKCNQ110998511799244 Affinity Capture-Western
PRKAR2AKCNQ111156211799244 Affinity Capture-Western
AKAP9KCNQ111544511799244 Affinity Capture-Western; Reconstituted Complex
AKAP9KCNQ110998511799244 Affinity Capture-Western; Reconstituted Complex
PPP1CAKCNQ110998511799244 Affinity Capture-Western; Reconstituted Complex
PPP1CAKCNQ111149311799244 Affinity Capture-Western; Reconstituted Complex
PRKACAKCNQ111155311799244 Affinity Capture-Western; Reconstituted Complex
PRKACAKCNQ110998511799244 Affinity Capture-Western; Reconstituted Complex
KCNQ2KCNQ110998512524525 Affinity Capture-Western
KCNQ2KCNQ110998612524525 Affinity Capture-Western
TRAF6KCNQ110998514743216 Affinity Capture-MS
TRAF6KCNQ111304114743216 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:108083
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-061214-5'