The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/500. Perform heat mediated antigen retrieval before commencing with IHC staining protocol.
Use a concentration of 1 µg/ml. Detects a band of approximately 53 kDa (predicted molecular weight: 53 kDa).
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. Stimulates cell-cell adhesion though its association with the E-cadherin/catenin complex. Under conditions of apoptosis or calcium influx, cleaves E-cadherin promoting the disassembly of the E-cadherin/catenin complex and increasing the pool of cytoplasmic beta-catenin, thus negatively regulating Wnt signaling. May also play a role in hematopoiesis.
Expressed in a wide range of tissues including various regions of the brain, liver, spleen and lymph nodes.
Involvement in disease
Defects in PSEN1 are a cause of Alzheimer disease type 3 (AD3) [MIM:607822]. AD3 is a familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. Defects in PSEN1 are a cause of frontotemporal dementia [MIM:600274]. Defects in PSEN1 are the cause of cardiomyopathy dilated type 1U (CMD1U) [MIM:613694]. It is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Defects in PSEN1 are the cause of acne inversa familial type 3 (ACNIF3) [MIM:613737]. A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty.
Belongs to the peptidase A22A family.
The PAL motif is required for normal active site conformation.
Heterogeneous proteolytic processing generates N-terminal (NTF) and C-terminal (CTF) fragments of approximately 35 and 20 kDa, respectively. During apoptosis, the C-terminal fragment (CTF) is further cleaved by caspase-3 to produce the fragment, PS1-CTF12. After endoproteolysis, the C-terminal fragment (CTF) is phosphorylated on serine residues by PKA and/or PKC. Phosphorylation on Ser-346 inhibits endoproteolysis.
Endoplasmic reticulum membrane. Golgi apparatus membrane. Cell surface. Bound to NOTCH1 also at the cell surface. Colocalizes with CDH1/2 at sites of cell-cell contact. Colocalizes with CTNNB1 in the endoplasmic reticulum and the proximity of the plasma membrane. Also present in azurophil granules of neutrophils.
Immunohistochemistry (PFA perfusion fixed frozen sections) - Anti-Presenilin 1 antibody (ab65293)This image is courtesy of an abreview submitted by Sophie Pezet, CNRS, Paris, France
Immunohistochemistical detection of Presenilin 1 using ab65293 on PFA perfusion fixed frozen rat brain 30um sections. Primary Antibody Dilution 1/300 for 18 hours @ 20°C in PBS + 0.3 % TritonX100. Secondary Antibody: Goat anti-rabbit Alexa Fluor® 488 (1/1000). ab65293 was used on 30um sections of rat brain tissue in free floating IHC. The antibody produced punctate staining in the plasma membrane and processes of neurons in many brain areas. The image submitted shows staining in the cerebral cortex.
Immunohistochemistry (Formalin/PFA-fixed paraffin-embedded sections) - Anti-Presenilin 1 antibody (ab65293)This image is courtesy of an abreview submitted by Carl Hobbs, King's College London, United Kingdom
ab65293 staining Presenilin 1 in human kidney. The sectioned were ixed in formaldehyde and subjected to heat mediated antigen retrieval using citric acid (pH 6). The tissue was then blocked with 1% BSA for 10 mins at 21 °C. Teh antibody was diluted to 1/500 using TBS/BSA/Azide and incubated for 2 hours at 21°C.
Fornetti J et al. Mammary epithelial cell phagocytosis downstream of TGF-ß3 is characterized by adherens junction reorganization. Cell Death Differ23:185-96 (2016).
Read more (PubMed: 26113040) »
Belal C et al. The homocysteine-inducible endoplasmic reticulum (ER) stress protein Herp counteracts mutant a-synuclein-induced ER stress via the homeostatic regulation of ER-resident calcium release channel proteins. Hum Mol Genet21:963-77 (2012).
Read more (PubMed: 22045699) »