NUP98 and KCNQ1

		NUP98	KCNQ1
Description		nucleoporin 98 and 96 precursor	potassium voltage-gated channel subfamily Q member 1
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GO Annotations	Cellular Component	Kinetochore Nucleus Nuclear Envelope Nuclear Pore Nucleoplasm Cytosol Membrane Nuclear Body Nuclear Pore Outer Ring Nuclear Membrane Nuclear Periphery Nuclear Inclusion Body Nuclear Pore Cytoplasmic Filaments Nuclear Pore Nuclear Basket Ribonucleoprotein Complex	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	Transcription Coactivator Activity RNA Binding MRNA Binding Protein Binding Nuclear Localization Sequence Binding Peptidase Activity Serine-type Peptidase Activity Hydrolase Activity Structural Constituent Of Nuclear Pore Peptide Binding Molecular Condensate Scaffold Activity Promoter-specific Chromatin Binding	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	Post-transcriptional Tethering Of RNA Polymerase II Gene DNA At Nuclear Periphery RNA Export From Nucleus Proteolysis Protein Import Into Nucleus Nucleocytoplasmic Transport Nuclear Pore Organization Protein Transport Telomere Tethering At Nuclear Periphery Positive Regulation Of DNA-templated Transcription Positive Regulation Of MRNA Splicing, Via Spliceosome MRNA Transport Nuclear Pore Complex Assembly	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		Malaria ( 31844061) Metabolite levels (Dihydroxy docosatrienoic acid) ( 23934736)	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)
Interacting Genes		19 interacting genes: APC CREBBP CSNK2A1 EP300 HDAC1 IPO5 KPNB1 NUP133 NUP188 NUP205 NUP62 NUP88 NXF1 RAE1 RCC1 SEC13 TNPO1 TNPO2 TPR	7 interacting genes: AKAP9 KCNE1 KCNE2 KCNE4 PPP1CA PRKACA TRAF6
Entrez ID		4928	3784
HPRD ID		03012	06341
Ensembl ID		ENSG00000110713	ENSG00000053918
Uniprot IDs		A0A8V8TR21 H0YCR0 H0YEN4 P52948	P51787 Q96AI9
PDB IDs		1KO6 2Q5X 2Q5Y 3MMY 4OWR 5A9Q 6BZM 7F60 7F90 7MNI 7PEQ 7Q64 7Q65 7Q66 7Q67 7VPG 7VPH 8CI8	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?		Nuclear Pore Nuclear Transport Nucleocytoplasmic Transport Protein Import Into Nucleus Import Into Nucleus Nuclear Envelope RNA Transport Structural Constituent Of Nuclear Pore Protein Localization To Nucleus MRNA Transport Nucleobase-containing Compound Transport Establishment Of Protein Localization To Organelle RNA Export From Nucleus Protein Localization To Organelle Intracellular Transport Nuclear Export Intracellular Protein Transport Protein Transport Nuclear Localization Sequence Binding Cellular Localization Establishment Of Protein Localization Establishment Of Localization In Cell MRNA Export From Nucleus Intracellular Protein Localization Regulation Of Mitotic Spindle Organization Nuclear Import Signal Receptor Activity Regulation Of Microtubule Cytoskeleton Organization Nucleoplasm Cytosol Nuclear Pore Organization Histone H3K27 Acetyltransferase Activity Regulation Of Cytoskeleton Organization Nucleus Regulation Of Microtubule-based Process Nuclear Membrane Regulation Of Mitotic Spindle Assembly Histone H3K18 Acetyltransferase Activity N-terminal Peptidyl-lysine Acetylation Peptide Lactyltransferase (CoA-dependent) Activity Nuclear Pore Inner Ring Small GTPase Binding Regulation Of Cell Cycle Kinetochore Ribosomal Protein Import Into Nucleus RNA Import Into Nucleus Nucleus Organization Regulation Of Spindle Assembly Positive Regulation Of Protein Localization To Nucleus Regulation Of Cell Cycle Process Positive Regulation Of Protein Import Into Nucleus	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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