Source: PM23856902
Marked as 'Integral membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)

Gene names: PSEN1 , AD3, PS1, PSNL1
Protein names and data: PSN1_HUMAN , Presenilin-1; PS-1; 3.4.23.- , Protein S182; Presenilin-1 NTF subunit; Presenilin-1 CTF subunit; Presenilin-1 CTF12; PS1-CTF12 Lenght: 467 a.a.
Mass: 52668 Da
fasta formatted sequence

Function: 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.
Cellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Cell surface. Note=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.
Tissue specificity: Expressed in a wide range of tissues including various regions of the brain, liver, spleen and lymph nodes.

Genetic variants

Database cross-references

UniProt: P49768
Ensembl: ENST00000261970
Ensembl: ENST00000324501
Ensembl: ENST00000344094
Ensembl: ENST00000357710
Ensembl: ENST00000394157
Ensembl: ENST00000394164
Ensembl: ENST00000553855
Ensembl: ENST00000555386
Ensembl: ENST00000557511
MIM: 104311
MIM: 600274
MIM: 607822
MIM: 613694
MIM: 613737
neXtProt: NX_P49768
Antibodypedia: P49768 (may not find the protein thus also not any antibody)
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