Presenilin 1 (PSEN1) Antibody – Rabbit Polyclonal

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]

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: EC 3.4.23.-; Protease; Mitochondrial; Membrane protein, integral; Membrane protein, multi-pass; Cell surface

Chromosomal Location of Human Ortholog: 14q24.3

Cellular Component: axon; cell junction; cell soma; cell surface; centrosome; ciliary rootlet; cytoplasmic vesicle; dendritic shaft; endoplasmic reticulum; endoplasmic reticulum membrane; Golgi apparatus; Golgi membrane; 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; plasma membrane; rough endoplasmic reticulum; smooth endoplasmic reticulum

Molecular Function: 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; autophagic vacuole formation; beta-amyloid formation; blood vessel development; brain morphogenesis; Cajal-Retzius cell differentiation; cell fate specification; cell-cell adhesion; cerebral cortex cell migration; choline transport; dorsoventral neural tube patterning; embryonic limb morphogenesis; endoplasmic reticulum calcium ion homeostasis; epithelial cell proliferation; heart looping; hemopoietic progenitor cell differentiation; L-glutamate transport; membrane protein ectodomain proteolysis; memory; mitochondrial transport; myeloid dendritic cell differentiation; negative regulation of apoptosis; negative regulation of axonogenesis; negative regulation of epidermal growth factor receptor activity; negative regulation of neuron apoptosis; negative regulation of transcription from RNA polymerase II promoter; negative regulation of ubiquitin-protein ligase activity; neuron apoptosis; neuron development; neuron migration; Notch receptor processing; Notch signaling pathway; positive regulation of apoptosis; positive regulation of catalytic activity; positive regulation of coagulation; positive regulation of MAP kinase activity; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of receptor recycling; positive regulation of transcription, DNA-dependent; post-embryonic development; protein amino acid glycosylation; protein processing; protein transport; regulation of phosphorylation; regulation of protein binding; regulation of resting membrane potential; regulation of synaptic plasticity; regulation of synaptic transmission, glutamatergic; response to DNA damage stimulus; response to oxidative stress; skeletal morphogenesis; skin morphogenesis; smooth endoplasmic reticulum calcium ion homeostasis; somitogenesis; synaptic vesicle targeting; T cell activation during 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