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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.
Protein type: Cell surface; EC 3.4.23.-; Membrane protein, integral; Membrane protein, multi-pass; Mitochondrial; Protease
Chromosomal Location of Human Ortholog: 14q24.2
Cellular Component: axon; cell cortex; cell junction; cell soma; cell surface; centrosome; ciliary rootlet; dendritic shaft; endoplasmic reticulum; Golgi apparatus; growth cone; integral to membrane; integral to plasma membrane; kinetochore; lipid raft; lysosomal membrane; membrane; mitochondrial inner membrane; mitochondrion; neuromuscular junction; nuclear membrane; nuclear outer membrane; nucleus; perinuclear region of cytoplasm; plasma membrane; protein complex; rough endoplasmic reticulum; smooth endoplasmic reticulum; Z disc
Molecular Function: aspartic endopeptidase activity, intramembrane cleaving; beta-catenin binding; cadherin binding; calcium channel activity; endopeptidase activity; PDZ domain binding; protein binding
Biological Process: amyloid precursor protein catabolic process; amyloid precursor protein metabolic process; astrocyte activation; astrocyte activation during immune response; beta-amyloid formation; cell-cell adhesion; endoplasmic reticulum calcium ion homeostasis; learning and/or memory; membrane protein ectodomain proteolysis; negative regulation of apoptosis; negative regulation of transcription from RNA polymerase II promoter; neutrophil degranulation; Notch receptor processing; positive regulation of catalytic activity; positive regulation of protein import into nucleus, translocation; positive regulation of transcription, DNA-dependent; protein processing; regulation of phosphorylation; smooth endoplasmic reticulum calcium ion homeostasis; synapse organization and biogenesis; Wnt receptor signaling pathway through beta-catenin
Disease: Acne Inversa, Familial, 3; Alzheimer Disease 3; Cardiomyopathy, Dilated, 1u; Frontotemporal Dementia; Pick Disease Of Brain
Reference #:  P49768 (UniProtKB)
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
Molecular weight: 52,668 Da
Basal Isoelectric point: 5.18  Predict pI for various phosphorylation states
CST Pathways:  Alzheimer's Disease  |  ErbB/HER Signaling  |  ESC Pluripotency and Differentiation  |  Notch Signaling
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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