| Gene Symbol | PSEN1 |
|---|---|
| Entrez Gene | 5663 |
| Alt Symbol | AD3, FAD, PS-1, PS1, S182 |
| Species | Human |
| Gene Type | protein-coding |
| Description | presenilin 1 |
| Other Description | presenilin-1 |
| Swissprots | P49768 Q96P33 Q14762 Q15719 B2R6D3 Q9UIF0 O95465 Q15720 |
| Accessions | AAB46371 AAC97960 AAF19253 AAF19254 BAA20883 BAD30017 CAC88544 CAC88578 CDH92546 EAW81091 EAW81092 EAW81093 EAW81094 EAW81095 EAW81096 EAW81097 P49768 AF416717 AAL16811 AJ008005 CAA07825 AK094186 AK094256 AK122722 AK223173 BAD96893 AK303876 BAH14071 AK312531 BAG35430 AW069286 BC002708 BC011729 AAH11729 DA670846 DB075605 DB203403 HQ447260 ADQ31747 L42110 AAB46416 L76517 AAB46370 U40379 AAB05894 U40380 AAB05895 XM_005267864 XP_005267921 XM_005267866 XP_005267923 XM_011536971 XP_011535273 XM_011536972 XP_011535274 XM_011536973 XP_011535275 XM_011536974 XP_011535276 NM_000021 NP_000012 NM_007318 NP_015557 NM_007319 |
| 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. {ECO:0000269|PubMed:10206644, ECO:0000269|PubMed:10545183, ECO:0000269|PubMed:10593990, ECO:0000269|PubMed:10811883, ECO:0000269|PubMed:10899933, ECO:0000269|PubMed:11226248, ECO:0000269|PubMed:15341515, ECO:0000269|PubMed:16305 |
| Subcellular 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. {ECO:0000269|PubMed:11987239, ECO:0000269|PubMed:8574969}. |
| Top Pathways | Wnt signaling pathway, Notch signaling pathway, Alzheimer's disease, Neurotrophin signaling pathway |