PSENEN

Gene Information

Official Symbol: PSENEN
Official Name: presenilin enhancer, gamma-secretase subunit
Aliases and Previous Symbols: N/A
Entrez ID: 55851
UniProt: Q9NZ42
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez 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].
UniProt Summary: 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}.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Screen	Score
Tubacin 1.6μM R07 exp416	-2.73
UM0125461 0.74μM R02 exp84	-2.46
MSC2530818 10μM R07 exp379	-2.37
Vemurafenib 6.6μM R08 exp434	-2.29
Vemurafenib 6.6μM R02 exp89	-1.97
Monensin 0.3μM R08 exp507	-1.88
Nicotine 3000μM R08 exp510	-1.75
Cerivastatin 0.15μM R05 exp226	1.71
UM131593 0.2μM R03 exp106	1.81
BAY-598 4μM R05 exp220	1.92

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

Essentiality in NALM6

Essentiality Rank: 7185
Expression level (log2 read counts): 4.39

Expression Distribution

Gene	Correlation
POLR2J3	0.43
GCH1	0.403

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