PSENEN
Summary: Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. Mutations resulting in haploinsufficiency for this gene cause familial acne inversa-2 (ACNINV2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| presenilin enhancer, gamma-secretase subunit | MIM:607632 | Ensembl:ENSG00000205155 | HGNC:HGNC:30100 | PA142671122 | 19q13.12 |
Gene Categories:
DRUGGABLE GENOMEGO terms in PSENEN
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| CC | IDA | GO:0005783 | endoplasmic reticulum |
| CC | IEA | GO:0005789 | endoplasmic reticulum membrane |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005887 | integral component of plasma membrane |
| CC | IDA | GO:0016021 | integral component of membrane |
| CC | IEA | GO:0032580 | Golgi cisterna membrane |
| CC | IBA | GO:0070765 | gamma-secretase complex |
| CC | IDA | GO:0070765 | gamma-secretase complex |
| BP | IDA | GO:0006509 | membrane protein ectodomain proteolysis |
| BP | TAS | GO:0007219 | Notch signaling pathway |
| BP | IBA | GO:0007220 | Notch receptor processing |
| BP | TAS | GO:0007220 | Notch receptor processing |
| BP | IDA | GO:0016485 | protein processing |
| BP | IMP | GO:0034205 | amyloid-beta formation |
| BP | TAS | GO:0035333 | Notch receptor processing, ligand-dependent |
| BP | IDA | GO:0042982 | amyloid precursor protein metabolic process |
| BP | TAS | GO:0042987 | amyloid precursor protein catabolic process |
| BP | IDA | GO:0043085 | positive regulation of catalytic activity |
Gene expression in normal tissue: PSENEN
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PSENEN
| 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-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-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-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 |
| 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 | hsa04330 | Notch signaling pathway - Homo sapiens (human) |
| kegg | hsa05010 | Alzheimer,s disease - Homo sapiens (human) |
| netpath | Pathway_Notch | Notch |
| wikipathways | WP2059 | Alzheimers Disease |
| wikipathways | WP61 | Notch Signaling Pathway |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PSENEN
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