| GENE NAME | PSEN1 |
| CHROMOSOME | 14 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000080815 |
| UNIPROT ACCESSION NUMBER | P49768 |
| GO MOLECULAR FUNCTION | ['ATPase binding', 'beta-catenin binding', 'calcium channel activity', 'PDZ domain binding', 'growth factor receptor binding', 'cadherin binding', 'endopeptidase activity', 'aspartic endopeptidase activity, intramembrane cleaving', 'aspartic-type endopeptidase activity', 'protein binding'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa04310; hsa04330; hsa04722; hsa05010; hsa05022; hsa05165; hsa04310; hsa04330; hsa04722; hsa05010; hsa05022; hsa05165; R-HSA-1236394; R-HSA-1251985; R-HSA-1266738; R-HSA-1474228; R-HSA-1474244; R-HSA-157118; R-HSA-162582; R-HSA-1643685; R-HSA-168249; R-HSA-168256; R-HSA-193692; R-HSA-193704; R-HSA-1980143; R-HSA-1980145; R-HSA-204998; R-HSA-205043; R-HSA-2122948; R-HSA-2644602; R-HSA-2644603; R-HSA-2644606; R-HSA-2682334; R-HSA-2894858; R-HSA-2894862; R-HSA-2979096; R-HSA-3928665; R-HSA-422475; R-HSA-5663202; R-HSA-6798695; R-HSA-73887; R-HSA-9006934; R-HSA-9012852; R-HSA-9013507; R-HSA-9013694; R-HSA-9013700; R-HSA-9017802; R-HSA-9675108 |
| 2 combinations linked to PSEN1 | OLI1471; OLI1470 |
| 1 variant linked to PSEN1 | PSEN1:c.868+16G>A, |
| 1 disease linked to PSEN1 | NON RARE IN EUROPE: Alzheimer disease |