Presenilin-1 - CISMeF

Preferred Label : Presenilin-1;

NCIt synonyms : PS-1; Protein S182; EC 3.4.23.-; Presenilin 1; PSEN1;

NCIt definition : Presenilin-1 (467 aa, 53 kDa) is encoded by the human PSEN1 gene. This protein plays a role in the mediation of proteolysis.;

NCIt note : Presenilin-1 is autocatalytically processed to an amino terminal fragment (NTF) and a carboxyl terminal fragment (CTF). The NTF and CTF are maintained as a disulfide-linked heterodimer. This cleavage is required for gamma secretase activity.;

Details

Origin ID

C95117;

UMLS CUI

C1311407;

Currated CISMeF NLP mapping
- Presenilin-1 [MeSH Descriptor]
- Presenilin-1 [MeSH concept]
OMIM relation
- Presenilin 1 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- PSEN1 protein, human [MeSH Supplementary Concept]
- PSEN1 protein, human [MeSH concept]
- Presenilin-1 [MeSH concept]
- Presenilin-1 [MeSH Descriptor]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- Hydrolase Gene [NCIt concept]
- PSEN1 Gene [NCIt concept]
- Peptidase Gene [NCIt concept]
gene_product_has_chemical_classification
- Aspartyl Peptidase [NCIt concept]
- Transmembrane Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Protease Domain [NCIt concept]
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Amyloid Beta-Peptide Pathway [NCIt concept]
- Gamma-Secretase Mediated ErbB4 Signaling Pathway [NCIt concept]
- Nerve Growth Factor Receptor Signaling Pathway [NCIt concept]
- Neurotrophin Signaling Pathway [NCIt concept]
- Notch Proteolysis and Signaling Pathway [NCIt concept]
- Notch Signaling Pathway [NCIt concept]
- Notch and Wnt Signaling Pathway [NCIt concept]
- Presenilin Action in Notch and Wnt Signaling Pathways [NCIt concept]
- Segmentation Clock Pathway [NCIt concept]
- Syndecan-3-Mediated Signaling Pathway [NCIt concept]
- Wnt Signaling Pathway KEGG [NCIt concept]
gene_product_is_physical_part_of
- Gamma Secretase [NCIt concept]
gene_product_malfunction_associated_with_disease
- Alzheimer's Disease [NCIt concept]
gene_product_plays_role_in_biological_process
- Hydrolysis [NCIt concept]
- Positive Regulation of Apoptosis [NCIt concept]
- Proteolysis [NCIt concept]
- Proteolytic Processing [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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