PSEN1 and NOTCH1

Data Source:
HPRD (in vivo)

		PSEN1	NOTCH1
Description		presenilin 1	notch receptor 1
Image
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 Acrosomal Vesicle MAML1-RBP-Jkappa- ICN1 Complex Extracellular Region Nucleus Nucleoplasm Endoplasmic Reticulum Membrane Cytosol Plasma Membrane Adherens Junction Cell Surface Integral Component Of Membrane Apical Plasma 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	Transcription Coactivator Activity Enzyme Inhibitor Activity Transmembrane Signaling Receptor Activity Notch Binding Calcium Ion Binding Protein Binding Enzyme Binding Chromatin DNA Binding Identical Protein 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 Specification Epithelial To Mesenchymal Transition Liver Development Heart Looping Sprouting Angiogenesis Positive Regulation Of Neuroblast Proliferation Inflammatory Response To Antigenic Stimulus Outflow Tract Morphogenesis Endocardium Development Endocardium Morphogenesis Atrioventricular Node Development Coronary Vein Morphogenesis Aortic Valve Morphogenesis Atrioventricular Valve Morphogenesis Coronary Sinus Valve Morphogenesis Pulmonary Valve Morphogenesis Mitral Valve Formation Epithelial To Mesenchymal Transition Involved In Endocardial Cushion Formation Endocardial Cushion Morphogenesis Cardiac Chamber Formation Cardiac Ventricle Morphogenesis Cardiac Atrium Morphogenesis Cardiac Right Atrium Morphogenesis Cardiac Left Ventricle Morphogenesis Cardiac Right Ventricle Formation Ventricular Trabecula Myocardium Morphogenesis Growth Involved In Heart Morphogenesis Negative Regulation Of Cell Proliferation Involved In Heart Valve Morphogenesis Regulation Of Transcription From RNA Polymerase II Promoter Involved In Myocardial Precursor Cell Differentiation Notch Signaling Pathway Involved In Regulation Of Secondary Heart Field Cardioblast Proliferation Cell Migration Involved In Endocardial Cushion Formation Negative Regulation Of Extracellular Matrix Constituent Secretion Pericardium Morphogenesis Regulation Of Transcription, DNA-templated Transcription Initiation From RNA Polymerase II Promoter Immune Response Humoral Immune Response Cell Cycle Arrest Notch Signaling Pathway Positive Regulation Of Transcription Of Notch Receptor Target Spermatogenesis Determination Of Left/right Symmetry Compartment Pattern Specification Axon Guidance Foregut Morphogenesis Endoderm Development Heart Development Positive Regulation Of Cell Population Proliferation Negative Regulation Of Cell Population Proliferation Auditory Receptor Cell Fate Commitment Negative Regulation Of Cardiac Muscle Hypertrophy Positive Regulation Of Gene Expression Negative Regulation Of Gene Expression Negative Regulation Of Cell-substrate Adhesion Negative Regulation Of Myotube Differentiation Mesenchymal Cell Development Regulation Of Somitogenesis Cell Differentiation In Spinal Cord Neural Tube Development Keratinocyte Differentiation Negative Regulation Of Ossification Lung Development Positive Regulation Of Cell Migration Positive Regulation Of BMP Signaling Pathway Negative Regulation Of BMP Signaling Pathway Forebrain Development Hair Follicle Morphogenesis Animal Organ Regeneration Response To Corticosteroid Response To Muramyl Dipeptide Response To Lipopolysaccharide Embryonic Hindlimb Morphogenesis Tube Formation Skeletal Muscle Cell Differentiation Cellular Response To Vascular Endothelial Growth Factor Stimulus Tissue Regeneration Negative Regulation Of Catalytic Activity Positive Regulation Of Viral Genome Replication Positive Regulation Of Endothelial Cell Differentiation Negative Regulation Of Inner Ear Auditory Receptor Cell Differentiation Positive Regulation Of Keratinocyte Differentiation Negative Regulation Of Myoblast Differentiation Negative Regulation Of Osteoblast Differentiation Positive Regulation Of Notch Signaling Pathway Negative Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription By RNA Polymerase II Negative Regulation Of Calcium Ion-dependent Exocytosis Negative Regulation Of Growth Rate Positive Regulation Of Receptor Signaling Pathway Via JAK-STAT Negative Regulation Of Photoreceptor Cell Differentiation Positive Regulation Of Ras Protein Signal Transduction Somatic Stem Cell Division Astrocyte Differentiation Oligodendrocyte Differentiation Positive Regulation Of Astrocyte Differentiation Negative Regulation Of Oligodendrocyte Differentiation Branching Morphogenesis Of An Epithelial Tube Homeostasis Of Number Of Cells Within A Tissue Positive Regulation Of Epithelial Cell Proliferation Negative Regulation Of Neurogenesis Cardiac Muscle Tissue Morphogenesis Cardiac Muscle Cell Proliferation Positive Regulation Of Cardiac Muscle Cell Proliferation Negative Regulation Of Glial Cell Proliferation Cilium Assembly Cardiac Epithelial To Mesenchymal Transition Negative Regulation Of Cell Adhesion Molecule Production Cardiac Septum Morphogenesis Ventricular Septum Morphogenesis Secretory Columnal Luminar Epithelial Cell Differentiation Involved In Prostate Glandular Acinus Development Prostate Gland Epithelium Morphogenesis Regulation Of Epithelial Cell Proliferation Involved In Prostate Gland Development Arterial Endothelial Cell Differentiation Venous Endothelial Cell Differentiation Cardiac Vascular Smooth Muscle Cell Development Endocardial Cell Differentiation Vasculogenesis Involved In Coronary Vascular Morphogenesis Coronary Artery Morphogenesis Notch Signaling Involved In Heart Development Heart Trabecula Morphogenesis Positive Regulation Of Transcription From RNA Polymerase II Promoter In Response To Hypoxia Positive Regulation Of Cardiac Epithelial To Mesenchymal Transition Negative Regulation Of Biomineral Tissue Development Positive Regulation Of ERK1 And ERK2 Cascade Left/right Axis Specification Cellular Response To Follicle-stimulating Hormone Stimulus Distal Tubule Development Collecting Duct Development Glomerular Mesangial Cell Development Negative Regulation Of Cell Migration Involved In Sprouting Angiogenesis Negative Regulation Of Canonical Wnt Signaling Pathway Neuronal Stem Cell Population Maintenance Negative Regulation Of Cold-induced Thermogenesis Regulation Of Extracellular Matrix Assembly Apoptotic Process Involved In Embryonic Digit Morphogenesis Positive Regulation Of Apoptotic Process Involved In Morphogenesis Positive Regulation Of Aorta Morphogenesis Negative Regulation Of Cell-cell Adhesion Mediated By Cadherin Negative Regulation Of Stem Cell Differentiation Negative Regulation Of Anoikis Negative Regulation Of Pro-B Cell Differentiation Negative Regulation Of Endothelial Cell Chemotaxis
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 Transcription and Translation Pre-NOTCH Processing in Golgi Pre-NOTCH Processing in Golgi Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells NOTCH1 Intracellular Domain Regulates Transcription NOTCH1 Intracellular Domain Regulates Transcription Activated NOTCH1 Transmits Signal to the Nucleus Activated NOTCH1 Transmits Signal to the Nucleus Constitutive Signaling by NOTCH1 PEST Domain Mutants Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant Constitutive Signaling by NOTCH1 HD Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants Notch-HLH transcription pathway Defective LFNG causes SCDO3 RUNX3 regulates NOTCH signaling RUNX3 regulates NOTCH signaling NOTCH3 Intracellular Domain Regulates Transcription NOTCH3 Intracellular Domain Regulates Transcription 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)	Bicuspid aortic valve Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
GWAS		Apolipoprotein B levels ( 32203549) Red cell distribution width ( 32888494) Refractive error ( 32231278) Reticulocyte fraction of red cells ( 32888494)	Chronic inflammatory diseases (ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy) ( 26974007) Coronary artery calcified atherosclerotic plaque (130 HU threshold) in type 2 diabetes ( 29221444) Crohn's disease ( 28067908) Eosinophil counts ( 32888494) Inflammatory bowel disease ( 28067908) Length of menstrual cycle ( 26732621) Mean corpuscular hemoglobin ( 32888494) Red cell distribution width ( 28957414) Triglyceride levels ( 32203549) Ulcerative colitis ( 28067908)
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	81 interacting genes: ADAM17 AKT1 APBA1 ARL6IP5 B3GALT4 BLOC1S1 CACNA1A CAMK4 CASR CBL CCN3 CEP57L1 CNTN1 COL4A6 CTNNB1 DAZAP2 DLL1 DLL4 DTX1 DTX2 EGFL7 EP300 EXT1 FAM185A FBXW7 FURIN GFI1B GOLGA2 GOPC GSK3B HMGN5 ILK ITCH JAG1 JAG2 KAT2A KAT2B KIAA1191 LCK LEF1 LFNG LINC00260 LINC02907 LNX2 MAGEA1 MAGED1 MAML1 MAML2 MAML3 MAP3K1 MDM2 MEF2C MFNG NFKB1 NUMB NUMBL PIK3CG POFUT1 POU2AF1 PRKCD PSEN1 PSEN2 RBP3 RBPJ REL RELA RHOA RUNX3 SMAD3 SNAI1 SNW1 TLE3 USP10 USP12 USP2 USP7 WDR12 WWP1 XIAP XRCC6 YY1
Entrez ID		5663	4851
HPRD ID		00087	01827
Ensembl ID		ENSG00000080815	ENSG00000148400
Uniprot IDs		A0A024R6A3 A0A0S2Z4D2 P49768	P46531
PDB IDs		2KR6 4UIS 5A63 5FN2 5FN3 5FN4 5FN5 6IDF 6IYC	1PB5 1TOZ 1YYH 2F8X 2F8Y 2HE0 2VJ3 3ETO 3I08 3L95 3NBN 3V79 4CUD 4CUE 4CUF 4D0E 4D0F 5FM9 5FMA 5KZO 5L0R 5UB5 6IDF 6PY8
Enriched GO Terms of Interacting Partners?
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