PSEN1
Summary: Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| presenilin 1 | MIM:104311 | Ensembl:ENSG00000080815 | HGNC:HGNC:9508 | PA33855 | 14q24.2 |
GO terms in PSEN1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0000139 | Golgi membrane |
| CC | IDA | GO:0000776 | kinetochore |
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | IMP | GO:0005634 | nucleus |
| CC | IDA | GO:0005640 | nuclear outer membrane |
| CC | IDA | GO:0005739 | mitochondrion |
| CC | IBA | GO:0005783 | endoplasmic reticulum |
| CC | IDA | GO:0005783 | endoplasmic reticulum |
| CC | IEA | GO:0005789 | endoplasmic reticulum membrane |
| CC | IDA | GO:0005790 | smooth endoplasmic reticulum |
| CC | IDA | GO:0005790 | smooth endoplasmic reticulum |
| CC | IDA | GO:0005791 | rough endoplasmic reticulum |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IDA | GO:0005813 | centrosome |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0005887 | integral component of plasma membrane |
| CC | IDA | GO:0005887 | integral component of plasma membrane |
| CC | IDA | GO:0016020 | membrane |
| CC | IDA | GO:0016021 | integral component of membrane |
| CC | TAS | GO:0016021 | integral component of membrane |
| CC | IDA | GO:0016235 | aggresome |
| CC | IDA | GO:0030054 | cell junction |
| CC | IDA | GO:0031965 | nuclear membrane |
| CC | IMP | GO:0032991 | protein-containing complex |
| CC | TAS | GO:0035577 | azurophil granule membrane |
| CC | IDA | GO:0045121 | membrane raft |
| CC | IDA | GO:0070765 | gamma-secretase complex |
| CC | IEA | GO:0098793 | presynapse |
| BP | IEA | GO:0000045 | autophagosome assembly |
| BP | IMP | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0000186 | activation of MAPKK activity |
| BP | IEA | GO:0001568 | blood vessel development |
| BP | IEA | GO:0001708 | cell fate specification |
| BP | IEA | GO:0001756 | somitogenesis |
| BP | IEA | GO:0001764 | neuron migration |
| BP | IEA | GO:0001921 | positive regulation of receptor recycling |
| BP | IEA | GO:0001947 | heart looping |
| BP | IEA | GO:0002038 | positive regulation of L-glutamate import across plasma membrane |
| BP | IEA | GO:0002244 | hematopoietic progenitor cell differentiation |
| BP | IGI | GO:0002265 | astrocyte activation involved in immune response |
| BP | IEA | GO:0002286 | T cell activation involved in immune response |
| BP | IEA | GO:0003407 | neural retina development |
| BP | IEA | GO:0006486 | protein glycosylation |
| BP | IDA | GO:0006509 | membrane protein ectodomain proteolysis |
| BP | IEA | GO:0006839 | mitochondrial transport |
| BP | IEA | GO:0006974 | cellular response to DNA damage stimulus |
| BP | IEA | GO:0006979 | response to oxidative stress |
| BP | IEA | GO:0007175 | negative regulation of epidermal growth factor-activated receptor activity |
| BP | TAS | GO:0007219 | Notch signaling pathway |
| BP | TAS | GO:0007220 | Notch receptor processing |
| BP | IGI | GO:0007611 | learning or memory |
| BP | TAS | GO:0007611 | learning or memory |
| BP | IGI | GO:0007613 | memory |
| BP | IEA | GO:0009791 | post-embryonic development |
| BP | IEA | GO:0015031 | protein transport |
| BP | IEA | GO:0015871 | choline transport |
| BP | IEA | GO:0016080 | synaptic vesicle targeting |
| BP | IDA | GO:0016485 | protein processing |
| BP | IEA | GO:0021795 | cerebral cortex cell migration |
| BP | IEA | GO:0021870 | Cajal-Retzius cell differentiation |
| BP | IEA | GO:0021904 | dorsal/ventral neural tube patterning |
| BP | IEA | GO:0030326 | embryonic limb morphogenesis |
| BP | IGI | GO:0032092 | positive regulation of protein binding |
| BP | IEA | GO:0032436 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process |
| BP | IDA | GO:0032469 | endoplasmic reticulum calcium ion homeostasis |
| BP | IGI | GO:0032469 | endoplasmic reticulum calcium ion homeostasis |
| BP | IMP | GO:0033160 | positive regulation of protein import into nucleus, translocation |
| BP | IMP | GO:0034205 | amyloid-beta formation |
| BP | TAS | GO:0035333 | Notch receptor processing, ligand-dependent |
| BP | IEA | GO:0035556 | intracellular signal transduction |
| BP | IDA | GO:0042325 | regulation of phosphorylation |
| BP | IGI | GO:0042327 | positive regulation of phosphorylation |
| BP | IDA | GO:0042982 | amyloid precursor protein metabolic process |
| BP | TAS | GO:0042987 | amyloid precursor protein catabolic process |
| BP | IEA | GO:0043011 | myeloid dendritic cell differentiation |
| BP | IEA | GO:0043065 | positive regulation of apoptotic process |
| BP | IDA | GO:0043066 | negative regulation of apoptotic process |
| BP | IMP | GO:0043066 | negative regulation of apoptotic process |
| BP | IDA | GO:0043085 | positive regulation of catalytic activity |
| BP | TAS | GO:0043312 | neutrophil degranulation |
| BP | IEA | GO:0043524 | negative regulation of neuron apoptotic process |
| BP | IEA | GO:0043589 | skin morphogenesis |
| BP | IMP | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IGI | GO:0048143 | astrocyte activation |
| BP | IEA | GO:0048167 | regulation of synaptic plasticity |
| BP | IEA | GO:0048538 | thymus development |
| BP | IEA | GO:0048666 | neuron development |
| BP | IEA | GO:0048705 | skeletal system morphogenesis |
| BP | IEA | GO:0048854 | brain morphogenesis |
| BP | IEA | GO:0050673 | epithelial cell proliferation |
| BP | IEA | GO:0050771 | negative regulation of axonogenesis |
| BP | IGI | GO:0050808 | synapse organization |
| BP | IEA | GO:0050820 | positive regulation of coagulation |
| BP | IEA | GO:0050852 | T cell receptor signaling pathway |
| BP | IEA | GO:0051402 | neuron apoptotic process |
| BP | IEA | GO:0051444 | negative regulation of ubiquitin-protein transferase activity |
| BP | IBA | GO:0051563 | smooth endoplasmic reticulum calcium ion homeostasis |
| BP | IEA | GO:0051966 | regulation of synaptic transmission, glutamatergic |
| BP | IBA | GO:0060070 | canonical Wnt signaling pathway |
| BP | IEA | GO:0060075 | regulation of resting membrane potential |
| BP | ISS | GO:0060828 | regulation of canonical Wnt signaling pathway |
| BP | IMP | GO:0060999 | positive regulation of dendritic spine development |
| BP | IEA | GO:0070588 | calcium ion transmembrane transport |
| BP | IGI | GO:0090647 | modulation of age-related behavioral decline |
| BP | TAS | GO:0090647 | modulation of age-related behavioral decline |
| BP | IMP | GO:0098609 | cell-cell adhesion |
| BP | IGI | GO:1904646 | cellular response to amyloid-beta |
| BP | IMP | GO:1904797 | negative regulation of core promoter binding |
| BP | IGI | GO:1905598 | negative regulation of low-density lipoprotein receptor activity |
| BP | IGI | GO:1905908 | positive regulation of amyloid fibril formation |
| BP | IGI | GO:1990535 | neuron projection maintenance |
| BP | IEA | GO:2000059 | negative regulation of ubiquitin-dependent protein catabolic process |
| BP | IEA | GO:2001234 | negative regulation of apoptotic signaling pathway |
| MF | IBA | GO:0004175 | endopeptidase activity |
| MF | IDA | GO:0004175 | endopeptidase activity |
| MF | NAS | GO:0004190 | aspartic-type endopeptidase activity |
| MF | TAS | GO:0004190 | aspartic-type endopeptidase activity |
| MF | IMP | GO:0005262 | calcium channel activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0008013 | beta-catenin binding |
| MF | IPI | GO:0008013 | beta-catenin binding |
| MF | IPI | GO:0030165 | PDZ domain binding |
| MF | IDA | GO:0042500 | aspartic endopeptidase activity, intramembrane cleaving |
| MF | IBA | GO:0045296 | cadherin binding |
Gene expression in normal tissue: PSEN1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PSEN1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1236394 | Signaling by ERBB4 |
| reactome | R-HSA-1251985 | Nuclear signaling by ERBB4 |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1474228 | Degradation of the extracellular matrix |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-157118 | Signaling by NOTCH |
| reactome | R-HSA-157118 | Signaling by NOTCH |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-193692 | Regulated proteolysis of p75NTR |
| reactome | R-HSA-193704 | p75 NTR receptor-mediated signalling |
| reactome | R-HSA-1980143 | Signaling by NOTCH1 |
| reactome | R-HSA-1980145 | Signaling by NOTCH2 |
| reactome | R-HSA-204998 | Cell death signalling via NRAGE, NRIF and NADE |
| reactome | R-HSA-205043 | NRIF signals cell death from the nucleus |
| reactome | R-HSA-2122948 | Activated NOTCH1 Transmits Signal to the Nucleus |
| reactome | R-HSA-2644602 | Signaling by NOTCH1 PEST Domain Mutants in Cancer |
| reactome | R-HSA-2644603 | Signaling by NOTCH1 in Cancer |
| reactome | R-HSA-2644606 | Constitutive Signaling by NOTCH1 PEST Domain Mutants |
| reactome | R-HSA-2682334 | EPH-Ephrin signaling |
| reactome | R-HSA-2894858 | Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer |
| reactome | R-HSA-2894862 | Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants |
| reactome | R-HSA-2979096 | NOTCH2 Activation and Transmission of Signal to the Nucleus |
| reactome | R-HSA-3928665 | EPH-ephrin mediated repulsion of cells |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-5663202 | Diseases of signal transduction |
| reactome | R-HSA-6798695 | Neutrophil degranulation |
| reactome | R-HSA-73887 | Death Receptor Signalling |
| reactome | R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases |
| reactome | R-HSA-9012852 | Signaling by NOTCH3 |
| reactome | R-HSA-9013507 | NOTCH3 Activation and Transmission of Signal to the Nucleus |
| reactome | R-HSA-9013694 | Signaling by NOTCH4 |
| reactome | R-HSA-9013700 | NOTCH4 Activation and Transmission of Signal to the Nucleus |
| reactome | R-HSA-9017802 | Noncanonical activation of NOTCH3 |
| biocarta | apppathway | generation of amyloid b-peptide by ps1 |
| biocarta | erbb4pathway | g-secretase mediated erbb4 signaling pathway |
| biocarta | hespathway | segmentation clock |
| biocarta | hivnefpathway | hiv-1 nef: negative effector of fas and tnf |
| biocarta | notchpathway | proteolysis and signaling pathway of notch |
| pid | fgf_pathway | FGF signaling pathway |
| pid | notch_pathway | Notch signaling pathway |
| pid | p75ntrpathway | p75(NTR)-mediated signaling |
| pid | ps1pathway | Presenilin action in Notch and Wnt signaling |
| pid | syndecan_3_pathway | Syndecan-3-mediated signaling events |
| kegg | hsa04310 | Wnt signaling pathway - Homo sapiens (human) |
| kegg | hsa04330 | Notch signaling pathway - Homo sapiens (human) |
| kegg | hsa04722 | Neurotrophin signaling pathway - Homo sapiens (human) |
| kegg | hsa05010 | Alzheimer,s disease - Homo sapiens (human) |
| kegg | hsa05165 | Human papillomavirus infection - Homo sapiens (human) |
| netpath | Pathway_Notch | Notch |
| wikipathways | WP2059 | Alzheimers Disease |
| wikipathways | WP268 | Notch Signaling Pathway |
| wikipathways | WP3845 | Canonical and Non-canonical Notch signaling |
| wikipathways | WP4242 | Notch Signaling Pathway |
| wikipathways | WP61 | Notch Signaling Pathway |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD271 | Brefeldin A | 3 |
| iGMDRD318 | PAC-1 | 3 |
| iGMDRD782 | DC-45-A2 | 2 |
| iGMDRD192 | CIL56 | 4 |
| iGMDRD289 | Parthenolide | 2 |
| iGMDRD221 | Tamoxifen | 4 |
| iGMDRD562 | Navitoclax | 2 |
| iGMDRD662 | JQ-1 | 1 |
| iGMDRD414 | MST-312 | 2 |
| iGMDRD630 | ML203 | 3 |
| iGMDRD64 | Parbendazole | 3 |
| iGMDRD60 | Quinoclamine | 2 |
| iGMDRD772 | BRD4770 | 1 |
| iGMDRD248 | BRD4354 | 1 |
| iGMDRD425 | ERASTIN | 1 |
| iGMDRD554 | CHEMBL1434137 | 1 |
| iGMDRD193 | Fqi1 | 1 |
| iGMDRD237 | ABT-751 | 2 |
| iGMDRD154 | NSC23766 | 2 |
| iGMDRD945 | ML214 | 3 |
| iGMDRD466 | Chaetocin | 2 |
| iGMDRD297 | Austocystin D | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PSEN1
CLASSFICATION
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