NP_000012.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
presenilin-1 isoform I-467
NCBI Official Synonym Full Names
presenilin 1
NCBI Protein Information
presenilin-1
UniProt Protein Name
Presenilin-1
UniProt Synonym Protein Names
Protein S182Cleaved into the following 3 chains:Presenilin-1 NTF subunit; Presenilin-1 CTF subunit; Presenilin-1 CTF12; PS1-CTF12
UniProt Synonym Gene Names
UniProt Entry Name
PSN1_HUMAN
NCBI Summary for PSEN1
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]
UniProt Comments for PSEN1
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.
Protein type: Protease; EC 3.4.23.-; Membrane protein, multi-pass; Cell surface; Membrane protein, integral; Mitochondrial
Chromosomal Location of Human Ortholog: 14q24.3
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; kinetochore; ciliary rootlet; membrane; cell soma; 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
Molecular Function: protein binding; cadherin binding; calcium channel activity; endopeptidase activity; beta-catenin binding; aspartic-type endopeptidase activity; PDZ domain binding
Biological Process: positive regulation of catalytic activity; extracellular matrix organization and biogenesis; activation of MAPKK activity; positive regulation of apoptosis; beta-amyloid formation; regulation of synaptic plasticity; positive regulation of coagulation; Wnt receptor signaling pathway through beta-catenin; choline transport; T cell receptor signaling pathway; T cell activation during immune response; mitochondrial transport; post-embryonic development; positive regulation of MAP kinase activity; extracellular matrix disassembly; cell-cell adhesion; epithelial cell proliferation; negative regulation of axonogenesis; negative regulation of neuron apoptosis; autophagic vacuole formation; embryonic limb morphogenesis; somitogenesis; regulation of phosphorylation; skin morphogenesis; Notch receptor processing; negative regulation of ubiquitin-protein ligase activity; neuron development; hemopoietic progenitor cell differentiation; Cajal-Retzius cell differentiation; response to oxidative stress; negative regulation of apoptosis; regulation of synaptic transmission, glutamatergic; protein maturation; neuron migration; protein amino acid glycosylation; myeloid dendritic cell differentiation; cell fate specification; negative regulation of transcription from RNA polymerase II promoter; amyloid precursor protein catabolic process; protein transport; beta-amyloid metabolic process; 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; neuron apoptosis; endoplasmic reticulum calcium ion homeostasis; cerebral cortex cell migration; skeletal morphogenesis; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; regulation of protein binding; protein processing; synaptic vesicle targeting; response to DNA damage stimulus
Disease: Alzheimer Disease 3; Pick Disease Of Brain; Frontotemporal Dementia; Acne Inversa, Familial, 3; Cardiomyopathy, Dilated, 1u
Research Articles on PSEN1
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Products associated with anti-PSEN1 antibody
Pathways associated with anti-PSEN1 antibody
Diseases associated with anti-PSEN1 antibody
Organs/Tissues associated with anti-PSEN1 antibody
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