PSENEN
Sign in to saveAlso known as MSTP064, PEN-2, PEN2, MDS033, presenilin enhancer gamma-secretase subunit, ACNINV2, presenilin enhancer, gamma-secretase subunit
PSENEN, formally PEN-2 (presenilin enhancer 2), is a protein that is a regulatory component of the gamma secretase complex, a protease complex responsible for proteolysis of transmembrane proteins such as the Notch protein and amyloid precursor protein (APP). The gamma secretase complex consists of PEN-2, APH-1, nicastrin, and the catalytic subunit presenilin. PEN-2 is a 101-amino acid integral membrane protein likely with a topology such that both the N-terminus and the C-terminus face first the lumen of the endoplasmic reticulum and later the extracellular environment. Biochemical studies ha
Gene data
PSENEN- Name
- presenilin enhancer, gamma-secretase subunit
- Type
- protein-coding
- Position
- 35,745,070–35,747,519 (+)
- Aliases
- ACNINV2, MDS033, MSTP064, PEN-2, PEN2
- Ensembl
- ENSG00000205155
- RefSeq RNA
- NM_001281532.3, NM_018468.4, NM_172341.4
- RefSeq protein
- NP_001268461.1, NP_758844.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
presenilin enhancer, gamma-secretase subunit
- Symbol
- PSENEN
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 19:35,745,070-35,747,519
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 11952
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/55851
- genomic end
- 36237911
- genomic start
- 35745600
- chromosome
- human chromosome 19
- cytogenetic location
- 19q13.12
- genetic association
- hidradenitis
via Wikidata · CC0
~1 min read
Encyclopedic overview
2 sectionsContents
- References
- External links
PSENEN, formally PEN-2 (presenilin enhancer 2), is a protein that is a regulatory component of the gamma secretase complex, a protease complex responsible for proteolysis of transmembrane proteins such as the Notch protein and amyloid precursor protein (APP). The gamma secretase complex consists of PEN-2, APH-1, nicastrin, and the catalytic subunit presenilin. PEN-2 is a 101-amino acid integral membrane protein likely with a topology such that both the N-terminus and the C-terminus face first the lumen of the endoplasmic reticulum and later the extracellular environment. Biochemical studies have shown that a conserved sequence motif D-Y-L-S-F at the C-terminus, as well as the overall length of the C-terminal tail, is required for the formation of an active gamma secretase complex.
PEN-2 binds to metformin at therapeutic concentration and may be responsible for its AMPK-activating effects. PEN2-metformin in turn binds to ATP6AP1 to inhibit v-ATPase activity.
Excerpted from Wikipedia’s “PSENEN” article, available under the CC BY-SA 4.0 licence.