PEN-2

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
Gene location (Human)
Chr.	Chromosome 19 (human)
End	35,747,519 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	30,563,627 bp
RNA expression pattern
	Top expressed in
	fallopian tube; ; testicle; ; blood; ; lung; ; kidney;
	More reference expression data
	n/a
Gene ontology
Molecular function	GO:0001948 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; GO:0048554 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; cellular protein metabolic process; ephrin receptor signaling pathway;
	Sources:Amigo / QuickGO
Orthologs
	55851
	66340
	ENSG00000205155
	ENSMUSG00000036835
	Q9NZ42
	Q9CQR7
	NM_172341; NM_001281532; NM_018468
	NM_025498; NM_001364016; NM_001364017
	NP_001268461; NP_758844
	NP_079774; NP_001350945; NP_001350946
	Wikidata
View/Edit Human	View/Edit Mouse

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]

References[]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000205155 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000036835 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ 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.

External links[]

presenilin+enhancer+2,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by .

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000205155 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[Kaether-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.

[Francis-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.

[Hasegawa-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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