Human Gene Set: BIOCARTA_PS1_PATHWAY

For the Mouse gene set with the same name, see BIOCARTA_PS1_PATHWAY

Standard name BIOCARTA_PS1_PATHWAY
Systematic name M16173
Brief description Presenilin action in Notch and Wnt signaling
Full description or abstract Presenilin-1 (PS1) is associated with gamma secretase activity that cleaves amyloid precursor protein (APP) and is implicated in Alzheimer's disease. Presenilin-1 is also a component in gamma-secretase activity involved in signaling by the transmembrane protein Notch. Active gamma secretase requires PS-1 N-terminal fragment and a C-terminal fragment and is unique in catalyzing proteolysis within the transmembrane region of proteins. Other proteins such as nicastrin may also be components of the gamma-secretase. Binding of the ligand Delta by Notch appears to trigger two proteolytic cleavages of Notch. The first step cleaves an extracellular domain and is catalyzed by a metalloprotease termed alpha-secretase or TACE. The second cleavage step appears to occur within the transmembrane domain of Notch, and releases a Notch intracellular doman (NICD). Once released, NICD moves into the nucleus where it is involved in transcriptional regulation through CSL family transcription factors (CBF1, Su(H), Lag-1) or other transcriptional regulators such as LEF-1. Presenilin is also involved in the Wnt/frizzled signaling pathway through beta-catenin. Beta-catenin is a cytoskeletal component that enters the nucleus to act as a transcriptional cofactor. Binding of WNT to Frizzled causes disheveled (DSH) to inhibit Glycogen synthase kinase 3 beta (GSK-3b) activity. Phosphorylation of Beta-catenin induces the ubiquitination and proteolytic degradation of beta-catenin by the proteasome. Non-phosphorylated beta-catenin is stable and enters the nucleus to regulate transcription with TCF. The beta-catenin/TCF complex activates genes that promote cellular survival, proliferation and differentiation during development. Presenilin stimulates beta-catenin turnover, reducing its transcriptional activation.
Collection C2: Curated
      CP: Canonical Pathways
            CP:BIOCARTA: BioCarta Pathways
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External links https://data.broadinstitute.org/gsea-msigdb/msigdb/biocarta/human/h_ps1Pathway.gif
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Source species Homo sapiens
Contributed by BioCarta
Source platform or
identifier namespace		 HUMAN_SEQ_ACCESSION
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Version history 7.0: Changed members. Upgraded to final version of Biocarta.


License Terms for BioCarta data in MSigDB

MSigDB gene sets derived from BioCarta pathways are protected by copyright, (c) 2000-2017 BioCarta, all rights reserved. They are provided under license to the Broad Institute, Inc. with qualified permission to include in this release, subject to Biocarta's "Disclaimer of Liability and of Warranties" (formerly found at www.biocarta.com). Inclusion of these gene sets is conditioned upon acknowledgment and retention of the aforementioned copyright, and agreement to such disclaimer. The BioCarta derived gene sets are in the MSigDB C2 and M2 collections, and can be recognized by the "BIOCARTA_" prefix in their name.

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