Gamma-secretase subunit PEN-2
Details
- Name
- Gamma-secretase subunit PEN-2
- Synonyms
- PEN2
- Presenilin enhancer protein 2
- Gene Name
- PSENEN
- Organism
- Humans
- Amino acid sequence
>lcl|BSEQ0017092|Gamma-secretase subunit PEN-2 MNLERVSNEEKLNLCRKYYLGGFAFLPFLWLVNIFWFFREAFLVPAYTEQSQIKGYVWRS AVGFLFWVIVLTSWITIFQIYRPRWGALGDYLSFTIPLGTP
- Number of residues
- 101
- Molecular Weight
- 12029.01
- Theoretical pI
- 9.45
- GO Classification
- Processesamyloid precursor protein catabolic process / apoptotic signaling pathway / axon guidance / ephrin receptor signaling pathway / membrane protein ectodomain proteolysis / membrane protein intracellular domain proteolysis / neurotrophin TRK receptor signaling pathway / Notch receptor processing / Notch signaling pathway / positive regulation of apoptotic process / positive regulation of catalytic activity / protein processingComponentsendoplasmic reticulum / endoplasmic reticulum membrane / gamma-secretase complex / Golgi apparatus / Golgi cisterna membrane / integral component of plasma membrane / plasma membrane
- General Function
- Not Available
- Specific 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 (beta-amyloid precursor protein). Probably represents the last step of maturation of gamma-secretase, facilitating endoproteolysis of presenilin and conferring gamma-secretase activity.
- Pfam Domain Function
- PEN-2 (PF10251)
- Transmembrane Regions
- 18-38 61-81
- Cellular Location
- Endoplasmic reticulum membrane
- Gene sequence
>lcl|BSEQ0017093|Gamma-secretase subunit PEN-2 (PSENEN) ATGAACCTGGAGCGAGTGTCCAATGAGGAGAAATTGAACCTGTGCCGGAAGTACTACCTG GGGGGGTTTGCTTTCCTGCCTTTTCTCTGGTTGGTCAACATCTTCTGGTTCTTCCGAGAG GCCTTCCTTGTCCCAGCCTACACAGAACAGAGCCAAATCAAAGGCTATGTCTGGCGCTCA GCTGTGGGCTTCCTCTTCTGGGTGATAGTGCTCACCTCCTGGATCACCATCTTCCAGATC TACCGGCCCCGCTGGGGTGCCCTTGGGGACTACCTCTCCTTCACCATACCCCTGGGCACC CCCTGA
- Chromosome Location
- 19
- Locus
- 19q13.12
- External Identifiers
Resource Link UniProtKB ID Q9NZ42 UniProtKB Entry Name PEN2_HUMAN GenBank Gene ID AF220053 GenAtlas ID PSENEN HGNC ID HGNC:30100 - General References
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- Steiner H, Winkler E, Edbauer D, Prokop S, Basset G, Yamasaki A, Kostka M, Haass C: PEN-2 is an integral component of the gamma-secretase complex required for coordinated expression of presenilin and nicastrin. J Biol Chem. 2002 Oct 18;277(42):39062-5. Epub 2002 Aug 26. [Article]
- 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: aph-1 and pen-2 are required for Notch pathway signaling, gamma-secretase cleavage of betaAPP, and presenilin protein accumulation. Dev Cell. 2002 Jul;3(1):85-97. [Article]
- Luo WJ, Wang H, Li H, Kim BS, Shah S, Lee HJ, Thinakaran G, Kim TW, Yu G, Xu H: PEN-2 and APH-1 coordinately regulate proteolytic processing of presenilin 1. J Biol Chem. 2003 Mar 7;278(10):7850-4. Epub 2003 Jan 8. [Article]
- Crystal AS, Morais VA, Pierson TC, Pijak DS, Carlin D, Lee VM, Doms RW: Membrane topology of gamma-secretase component PEN-2. J Biol Chem. 2003 May 30;278(22):20117-23. Epub 2003 Mar 14. [Article]
- Marlow L, Canet RM, Haugabook SJ, Hardy JA, Lahiri DK, Sambamurti K: APH1, PEN2, and Nicastrin increase Abeta levels and gamma-secretase activity. Biochem Biophys Res Commun. 2003 Jun 6;305(3):502-9. [Article]
- Kimberly WT, LaVoie MJ, Ostaszewski BL, Ye W, Wolfe MS, Selkoe DJ: Gamma-secretase is a membrane protein complex comprised of presenilin, nicastrin, Aph-1, and Pen-2. Proc Natl Acad Sci U S A. 2003 May 27;100(11):6382-7. Epub 2003 May 9. [Article]
- Edbauer D, Winkler E, Regula JT, Pesold B, Steiner H, Haass C: Reconstitution of gamma-secretase activity. Nat Cell Biol. 2003 May;5(5):486-8. [Article]
- Wang B, Yang W, Wen W, Sun J, Su B, Liu B, Ma D, Lv D, Wen Y, Qu T, Chen M, Sun M, Shen Y, Zhang X: Gamma-secretase gene mutations in familial acne inversa. Science. 2010 Nov 19;330(6007):1065. doi: 10.1126/science.1196284. Epub 2010 Oct 7. [Article]