PSEN1 and NOTCH2

Data Source:
HPRD (in vivo)

		PSEN1	NOTCH2
Description		presenilin 1	notch receptor 2
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GO Annotations	Cellular Component	Golgi Membrane Kinetochore Nucleus Nuclear Outer Membrane Nucleoplasm Mitochondrion Mitochondrial Inner Membrane Lysosomal Membrane Endoplasmic Reticulum Endoplasmic Reticulum Membrane Smooth Endoplasmic Reticulum Rough Endoplasmic Reticulum Golgi Apparatus Centrosome Plasma Membrane Integral Component Of Plasma Membrane Cell Cortex Synaptic Vesicle Cell Surface Membrane Integral Component Of Membrane Aggresome Apical Plasma Membrane Z Disc Cell Junction Growth Cone Neuromuscular Junction Early Endosome Membrane Nuclear Membrane Protein-containing Complex Ciliary Rootlet Azurophil Granule Membrane Sarcolemma Neuron Projection Neuronal Cell Body Dendritic Shaft Membrane Raft Perinuclear Region Of Cytoplasm Gamma-secretase Complex Integral Component Of Presynaptic Membrane	Golgi Membrane Extracellular Region Nucleus Nucleoplasm Endoplasmic Reticulum Membrane Plasma Membrane Integral Component Of Plasma Membrane Cilium Cell Surface Membrane Receptor Complex
	Molecular Function	Endopeptidase Activity Aspartic-type Endopeptidase Activity Calcium Channel Activity Protein Binding Beta-catenin Binding PDZ Domain Binding Aspartic Endopeptidase Activity, Intramembrane Cleaving Cadherin Binding ATPase Binding Growth Factor Receptor Binding	Calcium Ion Binding Protein Binding Enzyme Binding Signaling Receptor Activity NF-kappaB Binding
	Biological Process	Autophagosome Assembly Negative Regulation Of Transcription By RNA Polymerase II Activation Of MAPKK Activity 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 Neural Retina Development Protein Glycosylation Membrane Protein Ectodomain Proteolysis Calcium Ion Transport Mitochondrial Transport Cellular Response To DNA Damage Stimulus Response To Oxidative Stress Negative Regulation Of Epidermal Growth Factor-activated Receptor Activity Notch Receptor Processing Learning Or Memory Memory Post-embryonic Development 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 Embryonic Limb Morphogenesis Membrane Protein Intracellular Domain Proteolysis Positive Regulation Of Protein Binding Positive Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Endoplasmic Reticulum Calcium Ion Homeostasis Positive Regulation Of Tumor Necrosis Factor Production Amyloid-beta Formation Notch Receptor Processing, Ligand-dependent Intracellular Signal Transduction Positive Regulation Of Protein Import Into Nucleus Regulation Of Phosphorylation Positive 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 Positive Regulation Of Catalytic Activity Neutrophil Degranulation Positive Regulation Of MAP Kinase Activity Negative Regulation Of Neuron Apoptotic Process Skin Morphogenesis Positive Regulation Of Glycolytic Process Positive Regulation Of Transcription, DNA-templated Ephrin Receptor Signaling Pathway 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 Negative Regulation Of Ubiquitin-protein Transferase Activity Smooth Endoplasmic Reticulum Calcium Ion Homeostasis Regulation Of Synaptic Transmission, Glutamatergic Regulation Of Resting Membrane Potential Regulation Of Canonical Wnt Signaling Pathway Positive Regulation Of Dendritic Spine Development Calcium Ion Transmembrane Transport Modulation Of Age-related Behavioral Decline Cell-cell Adhesion L-glutamate Import Across Plasma Membrane Cellular Response To Amyloid-beta Negative Regulation Of Core Promoter Binding Negative Regulation Of Low-density Lipoprotein Receptor Activity Positive Regulation Of Amyloid Fibril Formation Neuron Projection Maintenance Negative Regulation Of Ubiquitin-dependent Protein Catabolic Process Negative Regulation Of Apoptotic Signaling Pathway	Negative Regulation Of Transcription By RNA Polymerase II In Utero Embryonic Development Cell Fate Determination Heart Looping Morphogenesis Of An Epithelial Sheet Marginal Zone B Cell Differentiation Inflammatory Response To Antigenic Stimulus Pulmonary Valve Morphogenesis Transcription Initiation From RNA Polymerase II Promoter Apoptotic Process Humoral Immune Response Cell Cycle Arrest Notch Signaling Pathway Multicellular Organism Development Nervous System Development Axon Guidance Animal Organ Morphogenesis Negative Regulation Of Gene Expression Positive Regulation Of Keratinocyte Proliferation Stem Cell Population Maintenance Hemopoiesis Embryonic Limb Morphogenesis Positive Regulation Of BMP Signaling Pathway Multicellular Organism Growth Intrahepatic Bile Duct Development Wound Healing Defense Response To Bacterium Myeloid Dendritic Cell Differentiation Positive Regulation Of Apoptotic Process Negative Regulation Of Apoptotic Process Positive Regulation Of Osteoclast Differentiation Negative Regulation Of Growth Rate Positive Regulation Of Ras Protein Signal Transduction Bone Remodeling Atrial Septum Morphogenesis Placenta Blood Vessel Development Ciliary Body Morphogenesis Notch Signaling Involved In Heart Development Positive Regulation Of ERK1 And ERK2 Cascade Left/right Axis Specification Proximal Tubule Development Glomerular Visceral Epithelial Cell Development Glomerular Capillary Formation Hepatocyte Proliferation Cholangiocyte Proliferation Regulation Of Actin Cytoskeleton Reorganization Regulation Of Osteoclast Development
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	Pre-NOTCH Processing in the Endoplasmic Reticulum Pre-NOTCH Transcription and Translation Pre-NOTCH Processing in Golgi Pre-NOTCH Processing in Golgi NOTCH2 intracellular domain regulates transcription NOTCH2 intracellular domain regulates transcription NOTCH2 Activation and Transmission of Signal to the Nucleus NOTCH2 Activation and Transmission of Signal to the Nucleus Notch-HLH transcription pathway Defective LFNG causes SCDO3 NOTCH4 Intracellular Domain Regulates Transcription
Drugs
Diseases		Acne inversa; Hidradenitis supprativa 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) Alzheimer's disease (AD)	Alagille syndrome Type II diabetes mellitus Hajdu-Cheney syndrome
GWAS		Apolipoprotein B levels ( 32203549) Red cell distribution width ( 32888494) Refractive error ( 32231278) Reticulocyte fraction of red cells ( 32888494)	Blood protein levels ( 30072576) Hepatocyte growth factor levels ( 25998175) Nevus count or cutaneous melanoma ( 32341527) Systemic lupus erythematosus ( 28714469) Type 2 diabetes ( 18372903 30054458 30297969)
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	31 interacting genes: ANKRD28 CCR2 CNTN1 CRKL CST6 DLL1 DTX1 DTX3 EGFL7 EPSTI1 GSK3B IL13RA2 IL24 ITIH5 JAG1 JAG2 KLK5 LFNG LRATD2 MAML1 MAML2 MAML3 MFNG MTA3 MYOC PSEN1 PSEN2 PSMC3IP RBPJ SMAD1 ST14
Entrez ID		5663	4853
HPRD ID		00087	02606
Ensembl ID		ENSG00000080815	ENSG00000134250
Uniprot IDs		A0A024R6A3 A0A0S2Z4D2 P49768	Q04721 Q6IQ50 Q9UFD5
PDB IDs		2KR6 4UIS 5A63 5FN2 5FN3 5FN4 5FN5 6IDF 6IYC	2OO4 5MWB
Enriched GO Terms of Interacting Partners?
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