PSEN1 elisa kit
Phospho-PSEN1 (Ser357) Colorimetric Cell-Based ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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 Description
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: Cell surface; EC 3.4.23.-; Membrane protein, integral; Membrane protein, multi-pass; Mitochondrial; Protease
Chromosomal Location of Human Ortholog: 14q24.2
Cellular Component: aggresome; axon; cell cortex; cell junction; cell soma; cell surface; centrosome; ciliary rootlet; dendritic shaft; endoplasmic reticulum; endoplasmic reticulum membrane; Golgi apparatus; Golgi membrane; growth cone; integral component of membrane; integral component of plasma membrane; kinetochore; lysosomal membrane; membrane; membrane raft; mitochondrial inner membrane; mitochondrion; neuromuscular junction; nuclear membrane; nuclear outer membrane; nucleus; perinuclear region of cytoplasm; plasma membrane; presynapse; protein complex; rough endoplasmic reticulum; smooth endoplasmic reticulum; Z disc
Molecular Function: aspartic endopeptidase activity, intramembrane cleaving; aspartic-type endopeptidase activity; beta-catenin binding; cadherin binding; calcium channel activity; endopeptidase activity; PDZ domain binding; protein binding
Biological Process: activation of MAPKK activity; amyloid precursor protein catabolic process; amyloid precursor protein metabolic process; amyloid-beta formation; astrocyte activation; astrocyte activation during immune response; autophagosome assembly; blood vessel development; brain morphogenesis; Cajal-Retzius cell differentiation; cell fate specification; cellular response to amyloid-beta; cellular response to DNA damage stimulus; cerebral cortex cell migration; choline transport; dorsal/ventral neural tube patterning; embryonic limb morphogenesis; endoplasmic reticulum calcium ion homeostasis; ephrin receptor signaling pathway; epithelial cell proliferation; heart looping; hemopoietic progenitor cell differentiation; L-glutamate transport; learning and/or memory; membrane protein ectodomain proteolysis; membrane protein intracellular domain proteolysis; memory; mitochondrial transport; myeloid dendritic cell differentiation; negative regulation of apoptosis; negative regulation of apoptotic signaling pathway; negative regulation of axonogenesis; negative regulation of core promoter binding; negative regulation of epidermal growth factor receptor activity; negative regulation of low-density lipoprotein receptor activity; negative regulation of neuron apoptosis; negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process; negative regulation of transcription from RNA polymerase II promoter; negative regulation of ubiquitin-protein ligase activity; neural retina development; neuron apoptosis; neuron development; neuron migration; neutrophil degranulation; Notch receptor processing; Notch signaling pathway; positive regulation of amyloid fibril formation; positive regulation of apoptosis; positive regulation of catalytic activity; positive regulation of coagulation; positive regulation of phosphorylation; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of protein binding; positive regulation of protein import into nucleus, translocation; positive regulation of receptor recycling; positive regulation of transcription, DNA-templated; post-embryonic development; protein glycosylation; protein processing; protein transport; regulation of phosphorylation; regulation of resting membrane potential; regulation of synaptic plasticity; regulation of synaptic transmission, glutamatergic; response to oxidative stress; skeletal morphogenesis; skin morphogenesis; smooth endoplasmic reticulum calcium ion homeostasis; somitogenesis; synapse organization; synaptic vesicle targeting; T cell activation involved in immune response; T cell receptor signaling pathway; thymus development; Wnt receptor signaling pathway through beta-catenin
Disease: Acne Inversa, Familial, 3; Alzheimer Disease 3; Cardiomyopathy, Dilated, 1u; Frontotemporal Dementia; Pick Disease Of Brain
