Human Presenilin 1, PS-1 ELI

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) (PubMed: 15274632, PubMed: 10545183, PubMed: 10593990, PubMed: 10206644, PubMed: 10899933, PubMed: 10811883, PubMed: 12679784, PubMed: 12740439, PubMed: 25043039, PubMed: 26280335, PubMed: 30598546, PubMed: 30630874, PubMed: 28269784, PubMed: 20460383).

Requires the presence of the other members of the gamma-secretase complex for protease activity (PubMed: 15274632, PubMed: 25043039, PubMed: 26280335, PubMed: 30598546, PubMed: 30630874).

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 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) (PubMed: 11953314).

Under conditions of apoptosis or calcium influx, cleaves CDH1 (PubMed: 11953314).

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 (PubMed: 9738936, PubMed: 11953314).

Required for normal embryonic brain and skeleton development, and for normal angiogenesis (By similarity).

Mediates the proteolytic cleavage of EphB2/CTF1 into EphB2/CTF2 (PubMed: 17428795, PubMed: 28269784).

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 (PubMed: 25394380, PubMed: 16959576).

Involved in the regulation of neurite outgrowth (PubMed: 15004326, PubMed: 20460383).

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 (By similarity).