SCN1A

Description		sodium voltage-gated channel alpha subunit 1
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GO Annotations	Cellular Component	Voltage-gated Sodium Channel Complex Nucleoplasm Plasma Membrane Intercalated Disc Membrane Nuclear Body Z Disc T-tubule Axon Node Of Ranvier Monoatomic Ion Channel Complex Sodium Channel Complex Neuronal Cell Body Axon Initial Segment
	Molecular Function	Monoatomic Ion Channel Activity Voltage-gated Sodium Channel Activity Monoatomic Cation Channel Activity Sodium Channel Activity Voltage-gated Monoatomic Ion Channel Activity Involved In Regulation Of Presynaptic Membrane Potential
	Biological Process	Action Potential Monoatomic Ion Transport Sodium Ion Transport Adult Walking Behavior Determination Of Adult Lifespan Neuronal Action Potential Propagation Neuronal Action Potential Nerve Development Monoatomic Ion Transmembrane Transport Sodium Ion Transmembrane Transport Regulation Of Membrane Potential Neuromuscular Process Controlling Posture Detection Of Mechanical Stimulus Involved In Sensory Perception Of Pain Establishment Of Localization In Cell Transmembrane Transport Cardiac Muscle Cell Action Potential Involved In Contraction Membrane Depolarization During Action Potential Regulation Of Presynaptic Membrane Potential
Pathways		Interaction between L1 and Ankyrins Phase 0 - rapid depolarisation
Drugs		Ranolazine Phenytoin Topiramate Valproic acid Lamotrigine Carbamazepine Oxcarbazepine Cocaine Zonisamide Promethazine Phenacemide Chloroprocaine Phenazopyridine Nitrazepam Permethrin Tetrodotoxin Brivaracetam Tetracaine Amylocaine Propoxycaine Pramocaine Pentoxyverine Dichlorobenzyl alcohol Bioallethrin Fish oil
Diseases		Familial or sporadic hemiplegic migraine Febrile seizures, including: Febrile convulsions; Generalized epilepsy with febrile seizure plus (GEFS+); Dravet syndrome/ Severe myoclonic epilepsy in infancy (SMEI)
GWAS		Epilepsy ( 25087078 30531953) Febrile seizures ( 25344690) Febrile seizures (MMR vaccine-related) ( 25344690) Febrile seizures (MMR vaccine-unrelated) ( 25344690) Focal epilepsy ( 30531953) Generalized epilepsy ( 22949513 30531953) Mesial temporal lobe epilepsy with hippocampal sclerosis ( 24014518) Whole brain grey matter density ( 31530798)
Novel Interacting Genes		1 novel interacting genes: NAB2
Interacting Genes		5 interacting genes: CALM1 NEDD4 PSEN1 SNTA1 YAP1
Entrez ID		6323
HPRD ID		01669
Ensembl ID		ENSG00000144285
Uniprot IDs		A0A286YF26 P35498
PDB IDs		7DTD
Enriched GO Terms of Interacting Partners?		Regulation Of Membrane Potential Transmembrane Transporter Binding Proline-rich Region Binding Protein-containing Complex Regulation Of Monoatomic Cation Transmembrane Transport Regulation Of Monoatomic Ion Transmembrane Transport Tube Morphogenesis Negative Regulation Of Cation Transmembrane Transport Regulation Of Metal Ion Transport Regulation Of Monoatomic Ion Transport Negative Regulation Of Monoatomic Ion Transmembrane Transport Mesenchyme Development Positive Regulation Of Nucleocytoplasmic Transport Regulation Of Sodium Ion Transport Formation Of Structure Involved In A Symbiotic Process Neuromuscular Junction Negative Regulation Of Core Promoter Binding PDZ Domain Binding ATPase Binding Embryonic Heart Tube Morphogenesis Enterocyte Differentiation Negative Regulation Of DNA-templated Transcription Negative Regulation Of RNA Biosynthetic Process Positive Regulation Of Protein Localization To Nucleus Negative Regulation Of High Voltage-gated Calcium Channel Activity Negative Regulation Of Ryanodine-sensitive Calcium-release Channel Activity Negative Regulation Of Monoatomic Ion Transport Regulation Of Heart Rate Negative Regulation Of Transmembrane Transport Negative Regulation Of RNA Metabolic Process Channel Inhibitor Activity Sarcolemma Smooth Endoplasmic Reticulum Calcium Ion Homeostasis Epithelial Tube Morphogenesis Cajal-Retzius Cell Differentiation Regulation Of Nucleocytoplasmic Transport Transcription Coregulator Activity Negative Regulation Of Nucleobase-containing Compound Metabolic Process Import Into Cell Regulation Of Transport Response To Calcium Ion Regulation Of Plasma Membrane Bounded Cell Projection Organization Positive Regulation Of Intracellular Transport Phosphothreonine Residue Binding Protein Catabolic Process At Postsynapse Negative Regulation Of Transcription Regulatory Region DNA Binding TEAD-YAP Complex Regulation Of Cell Projection Organization Negative Regulation Of Transcription By RNA Polymerase III Nuclear Receptor-mediated Glucocorticoid Signaling Pathway
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