PSENEN
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5A63, 5FN3, 5FN4, 5FN5, 5FN2
Identifiers
Aliases	PSENEN, MSTP064, PEN-2, PEN2, MDS033, presenilin enhancer gamma-secretase subunit, ACNINV2, presenilin enhancer, gamma-secretase subunit
External IDs	OMIM: 607632; MGI: 1913590; HomoloGene: 11952; GeneCards: PSENEN; OMA:PSENEN - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q13.12 Start 35,745,600 bp[1] End 35,747,519 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 B1 Start 30,261,288 bp[2] End 30,263,052 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube olfactory zone of nasal mucosa right testis left testis granulocyte mucosa of transverse colon C1 segment blood hypothalamus apex of heart Top expressed in primary oocyte secondary oocyte zygote thymus urinary bladder adrenal gland white adipose tissue granulocyte islet of Langerhans spleen More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component Golgi apparatus endoplasmic reticulum membrane membrane integral component of plasma membrane Golgi cisterna membrane endoplasmic reticulum integral component of membrane plasma membrane gamma-secretase complex endosome membrane mitochondrion integral component of presynaptic membrane Biological process Notch signaling pathway protein processing positive regulation of catalytic activity membrane protein ectodomain proteolysis Notch receptor processing amyloid precursor protein catabolic process amyloid-beta formation amyloid precursor protein metabolic process Notch receptor processing, ligand-dependent membrane protein intracellular domain proteolysis positive regulation of apoptotic process ephrin receptor signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55851 66340 Ensembl ENSG00000205155 ENSMUSG00000036835 UniProt Q9NZ42 Q9CQR7 RefSeq (mRNA) NM_172341 NM_001281532 NM_018468 NM_025498 NM_001364016 NM_001364017 RefSeq (protein) NP_001268461 NP_758844 NP_079774 NP_001350945 NP_001350946 Location (UCSC) Chr 19: 35.75 – 35.75 Mb Chr 7: 30.26 – 30.26 Mb PubMed search [3] [4]
Wikidata
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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.^[5] 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.^[6] 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.^[7]

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.^[8]

References

External links

• presenilin+enhancer+2,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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