PEN-2

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]

PSENEN
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPSENEN, MSTP064, PEN-2, PEN2, MDS033, presenilin enhancer gamma-secretase subunit, ACNINV2, presenilin enhancer, gamma-secretase subunit
External IDsOMIM: 607632 MGI: 1913590 HomoloGene: 11952 GeneCards: PSENEN
Gene location (Human)
Chr.Chromosome 19 (human)[1]
Band19q13.12Start35,745,600 bp[1]
End35,747,519 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

55851

66340

Ensembl

ENSG00000205155

ENSMUSG00000036835

UniProt

Q9NZ42

Q9CQR7

RefSeq (mRNA)

NM_172341
NM_001281532

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 MbChr 7: 30.56 – 30.56 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

References

  1. GRCh38: Ensembl release 89: ENSG00000205155 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000036835 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Kaether C, Haass C, Steiner H (2006). "Assembly, trafficking and function of gamma-secretase" (PDF). Neuro-Degenerative Diseases. 3 (4–5): 275–83. doi:10.1159/000095267. PMID 17047368. S2CID 17324271.
  6. Francis R, McGrath G, Zhang J, Ruddy DA, Sym M, Apfeld J, Nicoll M, Maxwell M, Hai B, Ellis MC, Parks AL, Xu W, Li J, Gurney M, Myers RL, Himes CS, Hiebsch R, Ruble C, Nye JS, Curtis D (July 2002). "aph-1 and pen-2 are required for Notch pathway signaling, gamma-secretase cleavage of betaAPP, and presenilin protein accumulation". Developmental Cell. 3 (1): 85–97. doi:10.1016/S1534-5807(02)00189-2. PMID 12110170.
  7. Hasegawa H, Sanjo N, Chen F, Gu YJ, Shier C, Petit A, Kawarai T, Katayama T, Schmidt SD, Mathews PM, Schmitt-Ulms G, Fraser PE, St George-Hyslop P (November 2004). "Both the sequence and length of the C terminus of PEN-2 are critical for intermolecular interactions and function of presenilin complexes". The Journal of Biological Chemistry. 279 (45): 46455–63. doi:10.1074/jbc.M406289200. PMID 15322109.


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