PSEN1
ENSG00000080815
Target class
Ion channel
Chromosome
14
Approved drugs
2
Clinical candidates (approved and in development)
7
- Approved drugs
- 2
- ClinGen gene-disease validity
- Disputed
- Clinical candidates (approved and in development)
- 7
- Chemical probe available
- Yes
- Target name
- PSEN1
- Gene name
- Presenilin 1
- Gene symbol
- PSEN1
- Previous gene symbols
- AD3
- Protein name
- Presenilin-1 (PS-1) (EC 3.4.23.-) (Protein S182) [Cleaved into: Presenilin-1 NTF subunit; Presenilin-1 CTF subunit; Presenilin-1 CTF12 (PS1-CTF12)]
- FAD
- S182
- PS1
- PS-1
- PSNL1
- Gene biotype
- Protein coding
- Gene family
- Presenilin family|Gamma-secretase complex subunits
- Target class
- Ion channel
- Target type
- Human gene
- Tissues expressed in
- 54
- Protein localisation evidence grade
- Supported
- Highest tissue expression
- 39.25
- Tissue specificity (Gini)
- 0.217
- Tissue specificity (tau)
- 0.663
- KEGG gene identifiers
- hsa:5663
- Protein interaction confidence
- 0.859217
- Protein interaction partners
- 69
- R-HSA-1251985
- R-HSA-1474228
- R-HSA-193692
- R-HSA-205043
- R-HSA-2122948
- R-HSA-2644606
- R-HSA-2894862
- R-HSA-2979096
- R-HSA-3928665
- R-HSA-6798695
- R-HSA-9013507
- R-HSA-9013700
- R-HSA-9017802
- R-HSA-9839383
- End position
- 73223691
- Start position
- 73136418
- Chromosome
- 14
- Strand
- Forward
- Endoplasmic reticulum . Endoplasmic reticulum membrane
- Multi-pass membrane protein . Golgi apparatus membrane
- Multi-pass membrane protein . Cytoplasmic granule . Cell membrane
- Multi-pass membrane protein . Cell projection, growth cone . Early endosome . Early endosome membrane
- Multi-pass membrane protein . Cell projection, neuron projection . Cell projection, axon . Synapse . Note=Translocates with bound NOTCH1 from the endoplasmic reticulum and/or Golgi to the cell surface (PubMed:10593990). Colocalizes with CDH1/2 at sites of cell-cell contact. Colocalizes with CTNNB1 in the endoplasmic reticulum and the proximity of the plasma membrane (PubMed:9738936). Also present in azurophil granules of neutrophils (PubMed:11987239). Colocalizes with UBQLN1 in the cell membrane and in cytoplasmic juxtanuclear structures called aggresomes (PubMed:21143716). Also highly enriched in mitochondria-associated endoplasmic reticulum membrane contact site (By similarity). .
- Golgi apparatus
- PubMed 25394380
- PubMed 10593990
- PubMed 8574969
- PubMed 9738936
- PubMed 10037471
- PubMed 15274632
- PubMed 25043039
- PubMed 25918421
- PubMed 26280335
- PubMed 26623517
- PubMed 30598546
- PubMed 30630874
- PubMed 11987239
- PubMed 11953314
- PubMed 21143716
- PubMed 15004326
- Tissue specificity (tau)
- 0.663079
- Expression inequality (Gini)
- 0.216582
Expression in transcripts per million
- Brain - Spinal cord (cervical c-1)
- 39.25
- Skin - Sun Exposed (Lower leg)
- 25.1
- Skin - Not Sun Exposed (Suprapubic)
- 22.78
- Nerve - Tibial
- 20.54
- Cells - Cultured fibroblasts
- 19.67
Expression in transcripts per million
- Brain - Spinal cord (cervical c-1)39.25
- Skin - Sun Exposed (Lower leg)25.1
- Skin - Not Sun Exposed (Suprapubic)22.78
- Nerve - Tibial20.54
- Cells - Cultured fibroblasts19.67
- Testis18.8
- Whole Blood18.73
- Lung18.48
- Small Intestine - Terminal Ileum18.1
- Adipose - Subcutaneous18
- Thyroid17.69
- Cervix - Endocervix17.49
- Uterus16.31
- Vagina16.05
- Cervix - Ectocervix15.67
- Colon - Transverse15.55
- Ovary15.32
- Cells - EBV-transformed lymphocytes15.02
- Minor Salivary Gland15
- Breast - Mammary Tissue14.86
- Esophagus - Mucosa14.72
- Bladder14.67
- Artery - Tibial14.51
- Spleen14.43
- Fallopian Tube14.13
And 29 more, listed on the interactive page.
- GO:0002265
- GO:0006509
- GO:0006974
- GO:0007220
- GO:0007611
- GO:0007613
- GO:0010468
- GO:0010628
- GO:0010629
- GO:0010975
- GO:0016485
- GO:0032469
- GO:0032760
- GO:0034205
- GO:0035556
- GO:0042982
- GO:0042987
- GO:0043066
- GO:0045821
- GO:0045893
- GO:0048143
- GO:0050808
- GO:0060999
- GO:0098609
- GO:1904646
And 2 more, listed on the interactive page.
- GO:0000139
- GO:0000776
- GO:0005634
- GO:0005640
- GO:0005739
- GO:0005769
- GO:0005783
- GO:0005789
- GO:0005790
- GO:0005791
- GO:0005794
- GO:0005813
- GO:0005886
- GO:0016020
- GO:0016235
- GO:0030425
- GO:0030426
- GO:0031965
- GO:0032991
- GO:0035577
- GO:0043005
- GO:0045121
- GO:0070765
- GO:0004175
- GO:0005262
- GO:0005515
- GO:0008013
- GO:0030165
- GO:0042500
- GO:0051117
- GO:0060090
- GO:0070851
Related records
Trials (117)
- A Dose-escalation Study to Evaluate the Safety and Clinical Activity of PBCAR269A, With or Without Nirogacestat, in Study Participants With Relapsed/Refractory Multiple Myeloma
- A Multicenter, Double Blind, Placebo-Controlled, Safety and Tolerability Study of BMS-708163 in Patients With Prodromal Alzheimer's Disease
- A Phase II, Multicenter, Double Blind, Placebo-Controlled Safety, Tolerability Study of BMS-708163 in Patients With Mild to Moderate Alzheimer's Disease
- A Study Evaluating PF-03084014 In Patients With Advanced Breast Cancer With Or Without Notch Alterations
- A Study Evaluating The PF-03084014 In Combination With Docetaxel In Patients With Advanced Breast Cancer
- A Study of a New Drug, Nirogacestat, for Treating Desmoid Tumors That Cannot be Removed by Surgery
- A Study of Belantamab Mafodotin in Combination With Nirogacestat and Pomalidomide in People With Multiple Myeloma That Has Not Responded to Treatment or Has Come Back After Treatment
- A Study of Healthy Subjects to Assess the Effect of LY450139 on Amyloid Beta Peptide Production Rate and or Dose Response.
- A Study of Nirogacestat in Japanese Adults With Desmoid Tumors/Aggressive Fibromatosis (DT/AF)
- A Study Of PF-03084014 In Japanese Patients With Advanced Solid Tumors
- A Study of RO4929097 in Patients With Advanced Renal Cell Carcinoma That Have Failed Vascular Endothelial Growth Factor (VEGF)/Vascular Endothelial Growth Factor Receptor (VEGFR) Therapy
- A Study of Semagacestat for Alzheimer's Patients
- A Study of Teclistamab With Other Anticancer Therapies in Participants With Multiple Myeloma
- A Study to Assess the Effects of 2 Different Prothrombin Complex Concentrates on the Pharmacodynamics of Rivaroxaban in Healthy Adult Volunteers
- A Study to Assess the Effects of 2 Prothrombin Complex Concentrates on the Pharmacodynamics of Apixaban in Healthy Adult Subjects
- A Study to Examine the Effects of Novel Therapy Linvoseltamab in Combination With Other Cancer Treatments for Adult Participants With Multiple Myeloma That is Resistant to Current Standard of Care Treatments
- A Study to Investigate Safety and Clinical Activity of Belantamab Mafodotin in Combination With Lenalidomide, Dexamethasone and Nirogacestat in Patients With Transplant Ineligible Newly Diagnosed Multiple Myeloma
- A Trial In Patients With Advanced Cancer And Leukemia
- A Two-part Study in Edoxaban-treated Healthy Subjects to Establish a Punch Biopsy Bleeding Model and to Evaluate the Effect of a 4-factor Prothrombin Complex Concentrate on Anticoagulation
- Acute Dose-dependent Effects of DMT in Healthy Subjects
Drugs (7)
- Avagacestat Gamma-secretase inhibitor
- Begacestat Gamma-secretase inhibitor
- Nirogacestat Gamma-secretase inhibitor
- Nirogacestat hydrobromide Gamma-secretase inhibitor
- RG-4733 Gamma-secretase inhibitor
- Semagacestat Gamma-secretase inhibitor
- Tarenflurbil Gamma-secretase modulator