PSENEN [The Human Chemical-Genetic Interaction Map Project]

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======= PSENEN =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: PSENEN
  * **<color #00a2e8>Official Name</color>**: presenilin enhancer, gamma-secretase subunit
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=55851|55851]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9NZ42|Q9NZ42]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PSENEN&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PSENEN|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607632|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:12522139, PubMed:12763021, PubMed:12740439, PubMed:12679784, PubMed:24941111). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (Probable). PSENEN modulates both endoproteolysis of presenilin and gamma-secretase activity (PubMed:12522139, PubMed:12763021, PubMed:12740439, PubMed:12679784, PubMed:24941111). {ECO:0000269|PubMed:12522139, ECO:0000269|PubMed:12679784, ECO:0000269|PubMed:12740439, ECO:0000269|PubMed:12763021, ECO:0000269|PubMed:24941111, ECO:0000305}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|PEN-2|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|Notch receptor processing, ligand-dependent|
|gamma-secretase complex|
|amyloid-beta formation|
|amyloid precursor protein catabolic process|
|Notch receptor processing|
|amyloid precursor protein metabolic process|
|amyloid-beta metabolic process|
|membrane protein intracellular domain proteolysis|
|membrane protein ectodomain proteolysis|
|membrane protein proteolysis|
|ephrin receptor signaling pathway|
|Golgi cisterna membrane|
|Notch signaling pathway|
|protein processing|
|endosome membrane|
|protein maturation|
|transmembrane receptor protein tyrosine kinase signaling pathway|
|peptide metabolic process|
|positive regulation of apoptotic process|
|positive regulation of programmed cell death|
|positive regulation of cell death|
|enzyme linked receptor protein signaling pathway|
|cellular amide metabolic process|
|endoplasmic reticulum membrane|
|Golgi apparatus|
|endoplasmic reticulum|
|proteolysis|
|integral component of plasma membrane|
|positive regulation of catalytic activity|
|regulation of apoptotic process|
|regulation of programmed cell death|
|regulation of cell death|
|positive regulation of molecular function|
|gene expression|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp416|Tubacin 1.6μM R07 exp416]]|-2.73|
|[[:results:exp84|UM0125461 0.74μM R02 exp84]]|-2.46|
|[[:results:exp379|MSC2530818 10μM R07 exp379]]|-2.37|
|[[:results:exp434|Vemurafenib 6.6μM R08 exp434]]|-2.29|
|[[:results:exp89|Vemurafenib 6.6μM R02 exp89]]|-1.97|
|[[:results:exp507|Monensin 0.3μM R08 exp507]]|-1.88|
|[[:results:exp510|Nicotine 3000μM R08 exp510]]|-1.75|
|[[:results:exp226|Cerivastatin 0.15μM R05 exp226]]|1.71|
|[[:results:exp106|UM131593 0.2μM R03 exp106]]|1.81|
|[[:results:exp220|BAY-598 4μM R05 exp220]]|1.92|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:p:polr2j3|POLR2J3]]|0.43|
|[[:human genes:g:gch1|GCH1]]|0.403|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 2/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 7185
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.39 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='PSENEN Expression in NALM6 Cells: 4.39'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>