PSEN1 and SCN1A

Number of citations of the paper that reports this interaction (PubMedID 21163940)
58

Data Source:
BioGRID (two hybrid)

		PSEN1	SCN1A
Description		presenilin 1	sodium voltage-gated channel alpha subunit 1
Image
GO Annotations	Cellular Component	Golgi Membrane Kinetochore Nucleus Nuclear Outer Membrane Nucleoplasm Cytoplasm Mitochondrion Mitochondrial Inner Membrane Lysosomal Membrane Endosome Early Endosome Endoplasmic Reticulum Endoplasmic Reticulum Membrane Smooth Endoplasmic Reticulum Rough Endoplasmic Reticulum Golgi Apparatus Centrosome Plasma Membrane Cell Cortex Synaptic Vesicle Cell Surface Membrane Aggresome Cell Junction Axon Dendrite Growth Cone Cytoplasmic Vesicle Neuromuscular Junction Early Endosome Membrane Nuclear Membrane Protein-containing Complex Ciliary Rootlet Azurophil Granule Membrane Sarcolemma Presynaptic Membrane Cell Projection Neuron Projection Neuronal Cell Body Dendritic Shaft Membrane Raft Synapse Gamma-secretase Complex Synaptic Membrane Postsynapse Glutamatergic Synapse	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	Endopeptidase Activity Aspartic-type Endopeptidase Activity Calcium Channel Activity Protein Binding Beta-catenin Binding Peptidase Activity Hydrolase Activity PDZ Domain Binding Aspartic Endopeptidase Activity, Intramembrane Cleaving Cadherin Binding ATPase Binding Growth Factor Receptor Binding	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	Autophagosome Assembly Negative Regulation Of Transcription By RNA Polymerase II Blood Vessel Development Cell Fate Specification Somitogenesis Neuron Migration Positive Regulation Of Receptor Recycling Heart Looping Positive Regulation Of L-glutamate Import Across Plasma Membrane Hematopoietic Progenitor Cell Differentiation Astrocyte Activation Involved In Immune Response T Cell Activation Involved In Immune Response Myeloid Leukocyte Differentiation Neural Retina Development Protein Glycosylation Proteolysis Membrane Protein Ectodomain Proteolysis Mitochondrial Transport Intracellular Calcium Ion Homeostasis Autophagy Apoptotic Process DNA Damage Response Response To Oxidative Stress Cell Adhesion Notch Signaling Pathway Notch Receptor Processing Brain Development Heart Development Learning Or Memory Memory Post-embryonic Development Gene Expression Regulation Of Gene Expression Positive Regulation Of Gene Expression Negative Regulation Of Gene Expression Regulation Of Neuron Projection Development Protein Transport Choline Transport Synaptic Vesicle Targeting Protein Processing Cerebellum Development Cerebral Cortex Cell Migration Cajal-Retzius Cell Differentiation Dorsal/ventral Neural Tube Patterning Cerebral Cortex Development Neurogenesis Neuron Differentiation Embryonic Limb Morphogenesis Forebrain Development Positive Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Endoplasmic Reticulum Calcium Ion Homeostasis Positive Regulation Of Tumor Necrosis Factor Production Amyloid-beta Formation Segmentation Intracellular Signal Transduction Locomotion Negative Regulation Of Epidermal Growth Factor Receptor Signaling Pathway Positive Regulation Of Protein Import Into Nucleus Regulation Of Phosphorylation Amyloid Precursor Protein Metabolic Process Amyloid Precursor Protein Catabolic Process Myeloid Dendritic Cell Differentiation Positive Regulation Of Apoptotic Process Negative Regulation Of Apoptotic Process Negative Regulation Of Neuron Apoptotic Process Skin Morphogenesis Positive Regulation Of Glycolytic Process Positive Regulation Of DNA-templated Transcription Astrocyte Activation Regulation Of Synaptic Plasticity Thymus Development Neuron Development Skeletal System Morphogenesis Brain Morphogenesis Amyloid-beta Metabolic Process Epithelial Cell Proliferation Negative Regulation Of Axonogenesis Synapse Organization Positive Regulation Of Coagulation T Cell Receptor Signaling Pathway Sequestering Of Calcium Ion Neuron Apoptotic Process Smooth Endoplasmic Reticulum Calcium Ion Homeostasis Protein Maturation Regulation Of Synaptic Transmission, Glutamatergic Calcium Ion Homeostasis Regulation Of Resting Membrane Potential Regulation Of Canonical Wnt Signaling Pathway Positive Regulation Of Dendritic Spine Development Neuron Cellular Homeostasis Calcium Ion Transmembrane Transport Apoptotic Signaling Pathway Cell-cell Adhesion Regulation Of Synaptic Vesicle Cycle L-glutamate Import Across Plasma Membrane Regulation Of Postsynapse Organization Protein Catabolic Process At Postsynapse Cellular Response To Amyloid-beta Negative Regulation Of Core Promoter Binding Positive Regulation Of Amyloid Fibril Formation Neuron Projection Maintenance Negative Regulation Of Ubiquitin-dependent Protein Catabolic Process Negative Regulation Of Apoptotic Signaling Pathway	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		Nuclear signaling by ERBB4 Degradation of the extracellular matrix Regulated proteolysis of p75NTR NRIF signals cell death from the nucleus Activated NOTCH1 Transmits Signal to the Nucleus Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants NOTCH2 Activation and Transmission of Signal to the Nucleus EPH-ephrin mediated repulsion of cells Neutrophil degranulation NOTCH3 Activation and Transmission of Signal to the Nucleus NOTCH4 Activation and Transmission of Signal to the Nucleus Noncanonical activation of NOTCH3 TGFBR3 PTM regulation	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		Alzheimer's disease (AD) Frontotemporal lobar degeneration (FTLD), including: Pick disease of brain; Frontotemporal dementia (FTD); Ubiquitin-positive frontotemporal dementia (UP-FTD); Progressive supranuclear palsy type 1 (PSNP1); Inclusion body myopathy with early-onset paget disease and frontotemporal dementia (IBMPFD); Frontotemporal dementia, chromosome 3-linked (FTD3) Acne inversa; Hidradenitis supprativa	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		Apolipoprotein B levels ( 32203549) Glycated hemoglobin levels ( 34059833) Red cell distribution width ( 32888494) Refractive error ( 32231278) Reticulocyte fraction of red cells ( 32888494)	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)
Interacting Genes		92 interacting genes: ACTN1 AP1M2 APBA1 APH1A APH1B APOE APP BACE1 BCL2 BCL2L1 CASP1 CASP3 CASP4 CASP6 CASP7 CASP8 CDH1 CDK5 CFL1 CIB1 CTNNA1 CTNNB1 CTNND1 CTNND2 CYP2C18 CYP2C8 DLL1 DOCK3 ECSIT EFHD1 EFNB2 ENSA EPB41L3 ERN1 ETFA FBXL12 FBXW7 FGF13 FLNA FLNB GAPDH GCDH GDI1 GFAP GSK3B HERPUD1 HMGB1 ICAM5 ITSN2 JUP KANK2 KCNIP3 KCNIP4 MAPK9 MAPT METTL2B MTCH1 NCSTN NOS3 NOTCH1 NOTCH2 NOTCH3 NOTCH4 OXCT1 PDCD4 PIK3R1 PKP4 PRAM1 PRDX2 PRKACA PRKCZ PSENEN PSMA5 PSMB1 RAB11A RAB3A RAD23A RHEB RMDN3 RNF32 RYR2 SCAF11 SCN1A SLC10A6 ST13 STAMBPL1 TCF7L2 TDP2 TUBA1B UBQLN1 UMPS YME1L1	5 interacting genes: CALM1 NEDD4 PSEN1 SNTA1 YAP1
Entrez ID		5663	6323
HPRD ID		00087	01669
Ensembl ID		ENSG00000080815	ENSG00000144285
Uniprot IDs		A0A024R6A3 A0A0S2Z4D2 P49768	A0A286YF26 P35498
PDB IDs		2KR6 4UIS 5A63 5FN2 5FN3 5FN4 5FN5 6IDF 6IYC 6LQG 6LR4 7C9I 7D8X 7Y5T 8IM7 8K8E 8KCO 8KCP 8KCS 8KCT 8KCU 8OQY 8OQZ 8X52 8X53 8X54	7DTD
Enriched GO Terms of Interacting Partners?		Regulation Of Cell Communication Regulation Of Programmed Cell Death Regulation Of Signaling Regulation Of Apoptotic Process Plasma Membrane Positive Regulation Of Neuron Apoptotic Process Cell Surface Receptor Signaling Pathway Positive Regulation Of Apoptotic Process Positive Regulation Of Programmed Cell Death Apoptotic Process Regulation Of Protein Localization Regulation Of Cell Development Neuron Projection Development Cytoplasm Regulation Of Cell Differentiation Programmed Cell Death Regulation Of Developmental Process Cell Death Negative Regulation Of Developmental Process Regulation Of Transport Protein Processing Cellular Response To Oxygen-containing Compound Notch Signaling Pathway Cytosol Amyloid-beta Formation Regulation Of Signal Transduction Positive Regulation Of Cell Communication Positive Regulation Of Signaling Regulation Of Neuron Apoptotic Process Positive Regulation Of Signal Transduction Regulation Of Biological Quality Amyloid Precursor Protein Metabolic Process Apoptotic Signaling Pathway Negative Regulation Of Cell Development Cellular Response To Indole-3-methanol Cell Junction Organization Regulation Of Establishment Of Protein Localization Response To Indole-3-methanol Cellular Localization Modulation Of Chemical Synaptic Transmission Cell-cell Junction Regulation Of Synaptic Plasticity Positive Regulation Of Proteolysis Regulation Of Autophagy Regulation Of Multicellular Organismal Process Positive Regulation Of Protein Localization Regulation Of Intracellular Signal Transduction Protein Maturation Regulation Of Developmental Growth Amyloid Precursor Protein Catabolic Process	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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