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PSEN1
probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. Regulates epithelial- cadherin function. Five alternative splice isoforms have been identified. Note: This description may include information from UniProtKB.
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| Protein type: Protease; Membrane protein, integral; Cell surface; Mitochondrial; EC 3.4.23.- |
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Cellular Component: Golgi apparatus; nuclear outer membrane; centrosome; cell surface; smooth endoplasmic reticulum; mitochondrion; lysosomal membrane; integral to plasma membrane; integral to membrane; lipid raft; ciliary rootlet; kinetochore; cell soma; membrane; perinuclear region of cytoplasm; mitochondrial inner membrane; apical plasma membrane; dendritic shaft; cytoplasmic vesicle; neuromuscular junction; endoplasmic reticulum membrane; nuclear membrane; rough endoplasmic reticulum; endoplasmic reticulum; cell cortex; Z disc; Golgi membrane; growth cone; axon; plasma membrane
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Molecular Function: protein binding; cadherin binding; calcium channel activity; endopeptidase activity; beta-catenin binding; aspartic-type endopeptidase activity; PDZ domain binding
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Biological Process: positive regulation of catalytic activity; activation of MAPKK activity; nerve growth factor receptor signaling pathway; positive regulation of apoptosis; regulation of synaptic plasticity; positive regulation of coagulation; choline transport; T cell receptor signaling pathway; mitochondrial transport; post-embryonic development; T cell activation during immune response; positive regulation of MAP kinase activity; epithelial cell proliferation; cell-cell adhesion; negative regulation of axonogenesis; negative regulation of neuron apoptosis; embryonic limb morphogenesis; autophagic vacuole formation; somitogenesis; membrane protein intracellular domain proteolysis; skin morphogenesis; regulation of phosphorylation; Notch receptor processing; negative regulation of ubiquitin-protein ligase activity; neuron development; Cajal-Retzius cell differentiation; hemopoietic progenitor cell differentiation; response to oxidative stress; anagen; negative regulation of apoptosis; regulation of synaptic transmission, glutamatergic; apoptosis; neuron migration; protein amino acid glycosylation; cell fate specification; negative regulation of transcription from RNA polymerase II promoter; amyloid precursor protein catabolic process; protein transport; beta-amyloid metabolic process; calcium ion transport; regulation of resting membrane potential; brain morphogenesis; heart looping; positive regulation of receptor recycling; dorsoventral neural tube patterning; blood vessel development; Notch signaling pathway; L-glutamate transport; thymus development; membrane protein ectodomain proteolysis; memory; negative regulation of epidermal growth factor receptor activity; smooth endoplasmic reticulum calcium ion homeostasis; endoplasmic reticulum calcium ion homeostasis; neuron apoptosis; cerebral cortex cell migration; skeletal morphogenesis; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; regulation of protein binding; myeloid leukocyte differentiation; protein processing; synaptic vesicle targeting; response to DNA damage stimulus
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Reference #:
P49768 (UniProtKB)
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| Alt. Names/Synonyms: AD3; FAD; presenilin 1; Presenilin-1; Presenilin-1 CTF subunit; Presenilin-1 CTF12; Presenilin-1 NTF subunit; Protein S182; PS-1; PS1; PS1-CTF12; PSEN1; PSN1; PSNL1; S182 |
| Gene Symbols: PSEN1 |
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Molecular weight: 52,668 Da
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Basal Isoelectric point: 5.18
Predict pI for various phosphorylation states
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CST Pathways:
Alzheimer's Disease
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ErbB/HER Signaling
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ESC Pluripotency and Differentiation
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Notch Signaling
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Protein-Specific Antibodies or siRNAs from Cell Signaling Technology®
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