PSEN1

Gene Name		presenilin 1
Image
Gene Ontology Annotations	Cellular Component	Golgi Membrane Kinetochore Nuclear Outer Membrane Mitochondrion Mitochondrial Inner Membrane Lysosomal Membrane Endoplasmic Reticulum Endoplasmic Reticulum Membrane Smooth Endoplasmic Reticulum Rough Endoplasmic Reticulum Golgi Apparatus Centrosome Integral Component Of Plasma Membrane Cell Cortex Cell Surface Membrane Integral Component Of Membrane Apical Plasma Membrane Z Disc Axon Growth Cone Cytoplasmic Vesicle Neuromuscular Junction Nuclear Membrane Ciliary Rootlet Neuronal Cell Body Dendritic Shaft Membrane Raft Perinuclear Region Of Cytoplasm Gamma-secretase Complex
	Molecular Function	Endopeptidase Activity Aspartic-type Endopeptidase Activity Calcium Channel Activity Protein Binding Beta-catenin Binding PDZ Domain Binding Cadherin Binding
	Biological Process	Autophagic Vacuole Assembly Negative Regulation Of Transcription From RNA Polymerase II Promoter Activation Of MAPKK Activity Blood Vessel Development Cell Fate Specification Somitogenesis Neuron Migration Positive Regulation Of Receptor Recycling Heart Looping Hematopoietic Progenitor Cell Differentiation T Cell Activation Involved In Immune Response Protein Glycosylation Membrane Protein Ectodomain Proteolysis Mitochondrial Transport Cellular Response To DNA Damage Stimulus Response To Oxidative Stress Negative Regulation Of Epidermal Growth Factor-activated Receptor Activity Notch Signaling Pathway Notch Receptor Processing Memory Post-embryonic Development Protein Transport L-glutamate Transport Choline Transport Synaptic Vesicle Targeting Single Organismal Cell-cell Adhesion Protein Processing Cerebral Cortex Cell Migration Cajal-Retzius Cell Differentiation Dorsal/ventral Neural Tube Patterning Extracellular Matrix Disassembly Extracellular Matrix Organization Embryonic Limb Morphogenesis Positive Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Endoplasmic Reticulum Calcium Ion Homeostasis Beta-amyloid Formation Intracellular Signal Transduction Regulation Of Phosphorylation Amyloid Precursor Protein Catabolic Process Myeloid Dendritic Cell Differentiation Positive Regulation Of Apoptotic Process Negative Regulation Of Apoptotic Process Positive Regulation Of Catalytic Activity Regulation Of Protein Binding Positive Regulation Of MAP Kinase Activity Negative Regulation Of Neuron Apoptotic Process Skin Morphogenesis Regulation Of Synaptic Plasticity Thymus Development Neuron Development Skeletal System Morphogenesis Brain Morphogenesis Beta-amyloid Metabolic Process Epithelial Cell Proliferation Negative Regulation Of Axonogenesis Positive Regulation Of Coagulation T Cell Receptor Signaling Pathway Neuron Apoptotic Process Negative Regulation Of Ubiquitin-protein Transferase Activity Smooth Endoplasmic Reticulum Calcium Ion Homeostasis Regulation Of Synaptic Transmission, Glutamatergic Canonical Wnt Signaling Pathway Regulation Of Resting Membrane Potential Calcium Ion Transmembrane Transport Negative Regulation Of Protein Ubiquitination Involved In Ubiquitin-dependent Protein Catabolic Process Negative Regulation Of Apoptotic Signaling Pathway
Pathways		Degradation of the extracellular matrix
Drugs
Diseases
GWAS
Protein-protein Interactions		91 interactors: 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 DSP 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 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 SCAF11 SCN1A ST13 STAMBPL1 TCF4 TCF7L2 TDP2 TUBA1B UBQLN1 UMPS YME1L1
Entrez ID		5663
HPRD ID		00087
Ensembl ID		ENSG00000080815
Uniprot IDs		P49768
PDB IDs		2KR6
Enriched GO Terms of Interacting Partners?		Apoptotic Process Programmed Cell Death Cell Death Death Regulation Of Cell Death Regulation Of Apoptotic Process Cell Development Notch Receptor Processing Nervous System Development Generation Of Neurons Cell Differentiation Regulation Of Signaling Positive Regulation Of Cell Death Neurogenesis Positive Regulation Of Catalytic Activity Positive Regulation Of Apoptotic Process Positive Regulation Of Programmed Cell Death System Development Execution Phase Of Apoptosis Neuron Differentiation Anatomical Structure Development Multicellular Organismal Development Cellular Response To Stimulus Regulation Of Catalytic Activity Anatomical Structure Morphogenesis Negative Regulation Of Cell Death Developmental Process Neuron Projection Development Negative Regulation Of Programmed Cell Death Neuron Development Signaling Response To Stimulus Regulation Of Signal Transduction Regulation Of Neurogenesis Regulation Of Cell Differentiation Cell Communication Regulation Of Protein Localization Cellular Component Disassembly Involved In Execution Phase Of Apoptosis Response To Stress Regulation Of Establishment Of Protein Localization Notch Signaling Pathway Positive Regulation Of Proteolysis Negative Regulation Of Apoptotic Process Positive Regulation Of Protein Metabolic Process Negative Regulation Of Cell Development Cell Projection Organization Negative Regulation Of Cell Differentiation Positive Regulation Of Signal Transduction Cell Morphogenesis Involved In Differentiation Regulation Of Cellular Localization
Tagcloud ?		1795g 2125g abeta37 abeta39 abeta40 advance dementia dementias doi e599k ejhg fus g709s genetics genotyping granulin grn harbored hek293 journal lewy mapt neuropathological pd publically publication shifted tar variants