Rabbit anti-Human PSEN1 Polyclonal Antibody

Uniprot Id

P49768

Target Species

Human

Target Name

PSEN1

Target Full Name

Presenilin-1

Target Function

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 (amyloid-beta precursor protein). Requires the presence of the other members of the gamma-secretase complex for protease activity. Plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels. Stimulates cell-cell adhesion via its interaction with CDH1; this stabilizes the complexes between CDH1 (E-cadherin) and its interaction partners CTNNB1 (beta-catenin), CTNND1 and JUP (gamma-catenin). Under conditions of apoptosis or calcium influx, cleaves CDH1. This promotes the disassembly of the complexes between CDH1 and CTNND1, JUP and CTNNB1, increases the pool of cytoplasmic CTNNB1, and thereby negatively regulates Wnt signaling. Required for normal embryonic brain and skeleton development, and for normal angiogenesis. Mediates the proteolytic cleavage of EphB2/CTF1 into EphB2/CTF2. The holoprotein functions as a calcium-leak channel that allows the passive movement of calcium from endoplasmic reticulum to cytosol and is therefore involved in calcium homeostasis. Involved in the regulation of neurite outgrowth. Is a regulator of presynaptic facilitation, spike transmission and synaptic vesicles replenishment in a process that depends on gamma-secretase activity. It acts through the control of SYT7 presynaptic expression.

Target Involvement

Alzheimer disease 3 (AD3); Frontotemporal dementia (FTD); Cardiomyopathy, dilated 1U (CMD1U); Acne inversa, familial, 3 (ACNINV3)

Target Subcellular Location

Endoplasmic reticulum. Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Cytoplasmic granule. Cell membrane; Multi-pass membrane protein. Cell projection, growth cone. Early endosome. Early endosome membrane; Multi-pass membrane protein. Cell projection, neuron projection. Cell projection, axon. Cell junction, synapse.

Target Protein Families

Peptidase A22A family

Target Tissue Specificity

Detected in azurophile granules in neutrophils and in platelet cytoplasmic granules (at protein level). Expressed in a wide range of tissues including various regions of the brain, liver, spleen and lymph nodes.

Target Synonyms

AD3; Ad3h; FAD; Homo Sapiens Clone CC44 Senilin 1; Presenilin-1 CTF12; Protein S182; PS 1; PS-1; PS1-CTF12; PSEN1; PSN1_HUMAN; PSNL1; S182

Target Background

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.