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Details on Person UniProt:Q9NZ42 PSENEN
| Class:Id | ReferenceGeneProduct:98017 |
|---|---|
| _chainChangeLog | chain:1-101 added on Fri February 6 2015 |
| _displayName | UniProt:Q9NZ42 PSENEN |
| _timestamp | 2024-11-03 20:02:24 |
| chain | chain:1-101 |
| checksum | FDBA4D299488EA02 |
| comment | FUNCTION 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:12679784, PubMed:12740439, PubMed:12763021, PubMed:24941111, PubMed:30598546, PubMed:30630874). 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:12679784, PubMed:12740439, PubMed:12763021, PubMed:24941111).SUBUNIT The functional gamma-secretase complex is composed of at least four polypeptides: a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PSENEN.INTERACTION Predominantly located in the endoplasmic reticulum and in the cis-Golgi.TISSUE SPECIFICITY Widely expressed. Expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, skeletal muscle, heart and brain.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the PEN-2 family.CAUTION The high-resolution electron microscopy structures indicate that the N-terminus is cytoplasmic, followed by two short helices that dip into the membrane, but do not cross it (PubMed:26280335). In contrast, results based on mutagenesis to create N-glycosylation sites indicate that the N-terminus is lumenal (PubMed:12639958, PubMed:30598546, PubMed:30630874). Both studies indicate that the C-terminus is lumenal (PubMed:12639958, PubMed:26280335). |
| description | recommendedName: Gamma-secretase subunit PEN-2 alternativeName: Presenilin enhancer protein 2 |
| geneName | PSENEN PEN2 MDS033 |
| identifier | Q9NZ42 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Cell membrane Endoplasmic reticulum Golgi apparatus Membrane Notch signaling pathway Proteomics identification Reference proteome Transmembrane Transmembrane helix |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | PSENEN |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9002545] ENSEMBL:ENSG00000205155 PSENEN [Homo sapiens] |
| secondaryIdentifier | PEN2_HUMAN B2R5L9 |
| sequenceLength | 101 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:157331] PSENEN [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:9010101] PSENEN [endosome membrane] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q9NZ42 PSENEN (98017)
