This website uses cookies to ensure you get the best experience on our website.
- Table of Contents
Facts about Presenilin-1.
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 (PubMed:9738936, PubMed:10593990, PubMed:10899933, PubMed:10811883). Stimulates cell-cell adhesion through its interaction with CDH1; this stabilizes the complexes between CDH1 (E-cadherin) and its interaction partners CTNNB1 (beta-catenin), CTNND1 and JUP (gamma-catenin) (PubMed:11953314).
Human | |
---|---|
Gene Name: | PSEN1 |
Uniprot: | P49768 |
Entrez: | 5663 |
Belongs to: |
---|
peptidase A22A family |
AD3EC 3.4.23.-; Alzheimer disease 3; EC 3.4.23; FAD; presenilin 1; Presenilin1; Presenilin-1; Protein S182; PS-1; PS1presenilin-1; PSEN1; PSNL1; S182
Mass (kDA):
52.668 kDA
Human | |
---|---|
Location: | 14q24.2 |
Sequence: | 14; NC_000014.9 (73136436..73223691) |
Detected in azurophile granules in neutrophils and in platelet cytoplasmic granules (at protein level) (PubMed:11987239). Expressed in a wide range of tissues including various regions of the brain, liver, spleen and lymph nodes (PubMed:7596406, PubMed:8641442, PubMed:8574969).
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. Translocates with bound NOTCH1 from the endoplasmic reticulum and/or Golgi to the cell surface (PubMed:10593990). Colocalizes with CDH1/2 at sites of cell-cell contact. Colocalizes with CTNNB1 in the endoplasmic r
PMID: 7596406 by Sherrington R., et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
PMID: 8641442 by Sahara N., et al. Identification and characterization of presenilin I-467, I-463 and I- 374.