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Gene and Protein Information  |
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| Species | TM | AA | Chromosomal Location | Gene Symbol | Gene Name | Reference |
| Human | 9 | 467 | 14q24.2 | PSEN1 | presenilin 1 | |
| Mouse | 9 | 467 | 12 38.84 cM | Psen1 | presenilin 1 | |
| Rat | 9 | 468 | 6q24 | Psen1 | presenilin 1 | |
| Previous and Unofficial Names |
| PS1 | AD3 | Ad3h | FAD |
| Database Links |
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| Specialist databases | |
| MEROPS | A22.001 (Hs) |
| Other databases | |
| Alphafold | P49768 (Hs), P49769 (Mm), P97887 (Rn) |
| BRENDA | 3.4.23.- |
| ChEMBL Target | CHEMBL2473 (Hs) |
| Ensembl Gene | ENSG00000080815 (Hs), ENSMUSG00000019969 (Mm), ENSRNOG00000009110 (Rn) |
| Entrez Gene | 5663 (Hs), 19164 (Mm), 29192 (Rn) |
| Human Protein Atlas | ENSG00000080815 (Hs) |
| KEGG Enzyme | 3.4.23.- |
| KEGG Gene | hsa:5663 (Hs), mmu:19164 (Mm), rno:29192 (Rn) |
| OMIM | 104311 (Hs) |
| Orphanet | ORPHA118099 (Hs) |
| Pharos | P49768 (Hs) |
| RefSeq Nucleotide | NM_000021 (Hs), NM_007318 (Hs), NM_008943 (Mm), NM_019163 (Rn) |
| RefSeq Protein | NP_000012 (Hs), NP_015557 (Hs), NP_032969 (Mm), NP_062036 (Rn) |
| UniProtKB | P49768 (Hs), P49769 (Mm), P97887 (Rn) |
| Wikipedia | PSEN1 (Hs) |
| Enzyme Reaction |
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Download all structure-activity data for this target as a CSV file 
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| Key to terms and symbols | View all chemical structures | Click column headers to sort | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Allosteric Modulators | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Immuno Process Associations | ||
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| Phenotypes, Alleles and Disease Models
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Mouse data from MGI | ||||||||||||||||||||||||
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| Clinically-Relevant Mutations and Pathophysiology
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1. Alzheimer Research Forum. DRUGS IN CLINICAL TRIALS: BMS-708163. Accessed on 06/09/2013. Modified on 06/09/2013. Alzheimer Research Forum, http://www.alzforum.org/drg/drc/detail.asp?id=124
2. Borgegard T, Juréus A, Olsson F, Rosqvist S, Sabirsh A, Rotticci D, Paulsen K, Klintenberg R, Yan H, Waldman M et al.. (2012) First and second generation γ-secretase modulators (GSMs) modulate amyloid-β (Aβ) peptide production through different mechanisms. J Biol Chem, 287 (15): 11810-9. [PMID:22334705]
3. Kreft AF, Martone R, Porte A. (2009) Recent advances in the identification of gamma-secretase inhibitors to clinically test the Abeta oligomer hypothesis of Alzheimer's disease. J Med Chem, 52 (20): 6169-88. [PMID:19694467]
4. Luistro L, He W, Smith M, Packman K, Vilenchik M, Carvajal D, Roberts J, Cai J, Berkofsky-Fessler W, Hilton H et al.. (2009) Preclinical profile of a potent gamma-secretase inhibitor targeting notch signaling with in vivo efficacy and pharmacodynamic properties. Cancer Res, 69 (19): 7672-80. [PMID:19773430]
5. Mahoney CJ, Downey LE, Beck J, Liang Y, Mead S, Perry RJ, Warren JD. (2013) The presenilin 1 P264L mutation presenting as non-fluent/agrammatic primary progressive aphasia. J Alzheimers Dis, 36 (2): 239-43. [PMID:23579325]
6. Martone RL, Zhou H, Atchison K, Comery T, Xu JZ, Huang X, Gong X, Jin M, Kreft A, Harrison B et al.. (2009) Begacestat (GSI-953): a novel, selective thiophene sulfonamide inhibitor of amyloid precursor protein gamma-secretase for the treatment of Alzheimer's disease. J Pharmacol Exp Ther, 331 (2): 598-608. [PMID:19671883]
7. Pettersson M, Johnson DS, Humphrey JM, Am Ende CW, Butler TW, Dorff PH, Efremov IV, Evrard E, Green ME, Helal CJ et al.. (2024) Discovery of Clinical Candidate PF-06648671: A Potent γ-Secretase Modulator for the Treatment of Alzheimer's Disease. J Med Chem, 67 (12): 10248-10262. [PMID:38848667]
8. Probst G, Aubele DL, Bowers S, Dressen D, Garofalo AW, Hom RK, Konradi AW, Marugg JL, Mattson MN, Neitzel ML et al.. (2013) Discovery of (R)-4-cyclopropyl-7,8-difluoro-5-(4-(trifluoromethyl)phenylsulfonyl)-4,5-dihydro-1H-pyrazolo[4,3-c]quinoline (ELND006) and (R)-4-cyclopropyl-8-fluoro-5-(6-(trifluoromethyl)pyridin-3-ylsulfonyl)-4,5-dihydro-2H-pyrazolo[4,3-c]quinoline (ELND007): metabolically stable γ-secretase Inhibitors that selectively inhibit the production of amyloid-β over Notch. J Med Chem, 56 (13): 5261-74. [PMID:23713656]
9. Wu WL, Domalski M, Burnett DA, Josien H, Bara T, Rajagopalan M, Xu R, Clader J, Greenlee WJ, Brunskill A et al.. (2012) Discovery of SCH 900229, a Potent Presenilin 1 Selective γ-Secretase Inhibitor for the Treatment of Alzheimer's Disease. ACS Med Chem Lett, 3 (11): 892-6. [PMID:24900404]
10. Xin Z, Peng H, Zhang A, Talreja T, Kumaravel G, Xu L, Rohde E, Jung MY, Shackett MN, Kocisko D et al.. (2011) Discovery of 4-aminomethylphenylacetic acids as γ-secretase modulators via a scaffold design approach. Bioorg Med Chem Lett, 21 (24): 7277-80. [PMID:22061640]
A22: Presenilin: presenilin 1. Last modified on 10/06/2024. Accessed on 18/01/2025. IUPHAR/BPS Guide to PHARMACOLOGY, https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2402.
