KCNQ1

Description		potassium voltage-gated channel subfamily Q member 1
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GO Annotations	Cellular Component	Cytoplasm Lysosome Endosome Early Endosome Late Endosome Endoplasmic Reticulum Cytosol Plasma Membrane Voltage-gated Potassium Channel Complex Endomembrane System Membrane Basolateral Plasma Membrane Apical Plasma Membrane Transport Vesicle Cytoplasmic Vesicle Membrane Cytoplasmic Vesicle Monoatomic Ion Channel Complex Potassium Channel Complex Neuron Projection Neuronal Cell Body Membrane Raft Apical Part Of Cell Basal Part Of Cell Ciliary Base Lumenal Side Of Membrane Basolateral Part Of Cell
	Molecular Function	Monoatomic Ion Channel Activity Voltage-gated Potassium Channel Activity Delayed Rectifier Potassium Channel Activity Potassium Channel Activity Protein Binding Calmodulin Binding Phosphatidylinositol-4,5-bisphosphate Binding Protein Phosphatase 1 Binding Outward Rectifier Potassium Channel Activity Ubiquitin Protein Ligase Binding Protein Kinase A Catalytic Subunit Binding Protein Kinase A Regulatory Subunit Binding Transmembrane Transporter Binding Voltage-gated Potassium Channel Activity Involved In Cardiac Muscle Cell Action Potential Repolarization Voltage-gated Potassium Channel Activity Involved In Atrial Cardiac Muscle Cell Action Potential Repolarization Scaffold Protein Binding Voltage-gated Potassium Channel Activity Involved In Ventricular Cardiac Muscle Cell Action Potential Repolarization
	Biological Process	Action Potential Gastric Acid Secretion Gastrin-induced Gastric Acid Secretion Regulation Of Heart Rate System Process Glucose Metabolic Process Monoatomic Ion Transport Potassium Ion Transport Sodium Ion Transport Heart Development Sensory Perception Of Sound Rhythmic Behavior Regulation Of Heart Contraction Regulation Of Blood Pressure Positive Regulation Of Heart Rate Iodide Transport Digestive System Process Erythrocyte Differentiation Intracellular Chloride Ion Homeostasis Response To Insulin Monoatomic Ion Transmembrane Transport Social Behavior Corticosterone Secretion Regulation Of Membrane Potential Inner Ear Morphogenesis Inner Ear Development Intestinal Absorption Detection Of Mechanical Stimulus Involved In Sensory Perception Of Sound Regulation Of Transport Chloride Ion Homeostasis Potassium Ion Homeostasis Transmembrane Transport Cardiac Muscle Contraction Auditory Receptor Cell Development Regulation Of Membrane Repolarization Regulation Of Ventricular Cardiac Muscle Cell Membrane Repolarization Regulation Of Atrial Cardiac Muscle Cell Membrane Repolarization Positive Regulation Of Cardiac Muscle Contraction Regulation Of Gastric Acid Secretion Cardiac Conduction Stomach Development Renal Absorption Renal Sodium Ion Absorption Cellular Response To CAMP Cellular Response To Xenobiotic Stimulus Potassium Ion Transmembrane Transport Cellular Response To Epinephrine Stimulus Adrenergic Receptor Signaling Pathway Cardiac Muscle Cell Contraction Ventricular Cardiac Muscle Cell Action Potential Membrane Repolarization Membrane Repolarization During Action Potential Membrane Repolarization During Cardiac Muscle Cell Action Potential Atrial Cardiac Muscle Cell Action Potential Regulation Of Heart Rate By Cardiac Conduction Cochlea Development Potassium Ion Export Across Plasma Membrane Membrane Repolarization During Atrial Cardiac Muscle Cell Action Potential Membrane Repolarization During Ventricular Cardiac Muscle Cell Action Potential Positive Regulation Of Potassium Ion Transmembrane Transport Negative Regulation Of Delayed Rectifier Potassium Channel Activity Negative Regulation Of Voltage-gated Potassium Channel Activity Non-motile Cilium Assembly Potassium Ion Import Across Plasma Membrane
Pathways		Voltage gated Potassium channels Phase 3 - rapid repolarisation Phase 2 - plateau phase
Drugs		Enflurane Promethazine Miconazole Bepridil Dronedarone Azimilide ICA-105665 Isavuconazole
Diseases		Short QT syndrome Long QT syndrome, including: Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome (JLNS) Atrial fibrillation Type II diabetes mellitus
GWAS		Appendicular lean mass ( 33097823) Birth weight ( 31043758) Blood pressure measurement (high sodium intervention) ( 24165912) Blood sugar levels ( 29403010) Body mass index ( 24861553 28892062 29381148) Childhood onset type 2 diabetes ( 33479058) Chronic kidney disease ( 29124443) Creatinine levels ( 29124443) Electrocardiogram morphology (amplitude at temporal datapoints) ( 32916098) Electrocardiographic traits ( 20062063 25055868) Electrocardiographic traits (multivariate) ( 32602732) Estimated glomerular filtration rate ( 29124443 31451708 31152163 30604766) Estimated glomerular filtration rate in non-diabetics ( 31451708) Fasting glucose ( 34059833) Glomerular filtration rate (creatinine) ( 28452372) Glomerular filtration rate in non diabetics (creatinine) ( 26831199) Glucose homeostasis traits ( 25524916) Glycated hemoglobin levels ( 28898252 34059833) Gout ( 25967671) Height ( 25429064 20881960 28552196 31562340 25282103) Hemoglobin A1c levels ( 29403010) High light scatter reticulocyte percentage of red cells ( 32888494) Hip circumference adjusted for BMI ( 34021172) Hyperuricemia ( 29124443) Long QT syndrome ( 32429735) Malaria ( 31844061) Medication use (drugs used in diabetes) ( 31015401) Mosaic loss of chromosome Y (Y chromosome dosage) ( 31624269) Mosquito bite size ( 28199695) Offspring birth weight ( 31043758) Plasma amyloid beta peptide concentrations (ABx-40) ( 24535457) Platelet aggregation ( 20526338) Platelet count ( 32888494) Plateletcrit ( 32888494) Protein quantitative trait loci ( 18464913) QT interval ( 23166209 29213071 19305409 19305408 24952745 29874175 30679814) Serum uric acid levels ( 29124443) T wave morphology restitution during exercise (MTAG) ( 31607149) T wave morphology restitution during recovery from exercise ( 31607149) T wave morphology restitution during recovery from exercise (MTAG) ( 31607149) Two-hour glucose ( 34059833) Type 2 diabetes ( 24509480 18711366 18711367 19401414 20174558 20581827 21573907 21799836 22885922 22961080 23945395 32794382 24101674 32499647 24390345 30297969 25102180 26818947 26961502 28254843 28406950 31118516 28869590 30054458 30718926) Urate levels ( 31578528) Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) ( 28448500) Waist circumference adjusted for BMI in active individuals ( 28448500) Waist circumference adjusted for body mass index ( 28448500 34021172) Waist-to-hip ratio adjusted for BMI ( 28552196)
Novel Interacting Genes		2 novel interacting genes: HRAS NUP98
Interacting Genes		7 interacting genes: AKAP9 KCNE1 KCNE2 KCNE4 PPP1CA PRKACA TRAF6
Entrez ID		3784
HPRD ID		06341
Ensembl ID		ENSG00000053918
Uniprot IDs		P51787 Q96AI9
PDB IDs		3BJ4 3HFC 3HFE 4UMO 4V0C 6MIE 6UZZ 6V00 6V01 7VUO 7VVD 7VVH 7XNI 7XNK 7XNL 7XNN 8SIK 8SIM 8SIN
Enriched GO Terms of Interacting Partners?		Regulation Of Ventricular Cardiac Muscle Cell Membrane Repolarization Regulation Of Heart Rate Regulation Of Membrane Repolarization Regulation Of Heart Rate By Cardiac Conduction Potassium Channel Regulator Activity Cardiac Conduction Regulation Of Heart Contraction Membrane Repolarization During Ventricular Cardiac Muscle Cell Action Potential Voltage-gated Potassium Channel Activity Involved In Ventricular Cardiac Muscle Cell Action Potential Repolarization Ventricular Cardiac Muscle Cell Membrane Repolarization Potassium Ion Export Across Plasma Membrane Voltage-gated Potassium Channel Complex Ventricular Cardiac Muscle Cell Action Potential Regulation Of Blood Circulation Membrane Repolarization During Cardiac Muscle Cell Action Potential Delayed Rectifier Potassium Channel Activity Membrane Repolarization During Action Potential Membrane Repolarization Transmembrane Transporter Binding Cardiac Muscle Cell Action Potential Involved In Contraction Cardiac Muscle Cell Action Potential Regulation Of Biological Quality Voltage-gated Potassium Channel Activity Export Across Plasma Membrane Glutamatergic Synapse Regulation Of System Process Negative Regulation Of Delayed Rectifier Potassium Channel Activity Negative Regulation Of Potassium Ion Transmembrane Transporter Activity Negative Regulation Of Voltage-gated Potassium Channel Activity Potassium Channel Activity Regulation Of Delayed Rectifier Potassium Channel Activity T-helper 1 Type Immune Response Action Potential Monoatomic Ion Channel Complex Regulation Of Neurotransmitter Receptor Localization To Postsynaptic Specialization Membrane Regulation Of Membrane Potential Potassium Ion Transmembrane Transport Negative Regulation Of Potassium Ion Transmembrane Transport Potassium Ion Transport Protein Kinase A Regulatory Subunit Binding Negative Regulation Of Transporter Activity Regulation Of Protein Localization To Synapse Regulation Of Cellular Localization Regulation Of Receptor Localization To Synapse Negative Regulation Of Potassium Ion Transport Regulation Of Multicellular Organismal Process Regulation Of Protein Targeting To Membrane Positive Regulation Of Glucose Metabolic Process Regulation Of Monoatomic Cation Transmembrane Transport Regulation Of Monoatomic Ion Transmembrane Transport
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