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 |
|---|---|---|---|---|---|
Namepresenilin 1 OMIM IDMIM:104311 Ensembl IDEnsembl:ENSG00000080815 HGNC IDHGNC:HGNC:9508 PHARMGKB IDPA33855 Map Location14q24.2 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PSEN1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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