Tripeptidyl peptidase II
Template:Short description An Error has occurred retrieving Wikidata item for infobox Tripeptidyl-peptidase 2 is an enzyme that in humans is encoded by the TPP2 gene.[1][2] Among other things it is heavily implicated in MHC (HLA) class-I processing, as it has both endopeptidase and exopeptidase activity.[3]
Clinical significance and genetic deficiency
Biallelic deleterious variants in the TPP2 gene may result in a recessive disorder with immune deficiency, autoimmune disease and intellectual disability.[4][5] Some genetic variants may result in a milder disease with sterile brain inflammation mimicking multiple sclerosis.[6] These observations underline the fundamental role of TPP2 in cells of the immune system.
References
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- ^ Page Module:Citation/CS1/styles.css has no content.Tomkinson B, Jonsson AK (January 1991). "Characterization of cDNA for human tripeptidyl peptidase II: the N-terminal part of the enzyme is similar to subtilisin". Biochemistry. 30 (1): 168–174. doi:10.1021/bi00215a025. PMID 1670990.
- ^ Page Module:Citation/CS1/styles.css has no content."Entrez Gene: TPP2 tripeptidyl peptidase II".
- ^ Page Module:Citation/CS1/styles.css has no content.Reits E, Neijssen J, Herberts C, Benckhuijsen W, Janssen L, Drijfhout JW, Neefjes J (April 2004). "A major role for TPPII in trimming proteasomal degradation products for MHC class I antigen presentation". Immunity. 20 (4): 495–506. doi:10.1016/S1074-7613(04)00074-3. PMID 15084277.
- ^ Page Module:Citation/CS1/styles.css has no content.Lu W, Zhang Y, McDonald DO, Jing H, Carroll B, Robertson N, et al. (December 2014). "Dual proteolytic pathways govern glycolysis and immune competence". Cell. 159 (7): 1578–1590. doi:10.1016/j.cell.2014.12.001. PMC 4297473. PMID 25525876.
- ^ Page Module:Citation/CS1/styles.css has no content.Atallah I, Quinodoz M, Campos-Xavier B, Peter VG, Fouriki A, Bonvin C, et al. (June 2021). "Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene". Clinical Genetics. 99 (6): 780–788. doi:10.1111/cge.13942. PMID 33586135. S2CID 231926886.
- ^ Page Module:Citation/CS1/styles.css has no content.Reinthaler EM, Graf E, Zrzavy T, Wieland T, Hotzy C, Kopecky C, et al. (December 2018). "TPP2 mutation associated with sterile brain inflammation mimicking MS". Neurology. Genetics. 4 (6): e285. doi:10.1212/NXG.0000000000000285. PMC 6244017. PMID 30533531.
External links
Further reading
Page Template:Refbegin/styles.css has no content.
- Page Module:Citation/CS1/styles.css has no content.Tomkinson B, Zetterqvist O (April 1990). "Immunological cross-reactivity between human tripeptidyl peptidase II and fibronectin". The Biochemical Journal. 267 (1): 149–154. doi:10.1042/bj2670149. PMC 1131257. PMID 1691635.
- Page Module:Citation/CS1/styles.css has no content.Tomkinson B (1992). "Nucleotide sequence of cDNA covering the N-terminus of human tripeptidyl peptidase II". Biomedica Biochimica Acta. 50 (4–6): 727–729. PMID 1840501.
- Page Module:Citation/CS1/styles.css has no content.Tomkinson B, Wernstedt C, Hellman U, Zetterqvist O (November 1987). "Active site of tripeptidyl peptidase II from human erythrocytes is of the subtilisin type". Proceedings of the National Academy of Sciences of the United States of America. 84 (21): 7508–7512. Bibcode:1987PNAS...84.7508T. doi:10.1073/pnas.84.21.7508. PMC 299325. PMID 3313395.
- Page Module:Citation/CS1/styles.css has no content.Wilson C, Gibson AM, McDermott JR (July 1993). "Purification and characterization of tripeptidylpeptidase-II from post-mortem human brain". Neurochemical Research. 18 (7): 743–749. doi:10.1007/BF00966768. PMID 8396212. S2CID 21957759.
- Page Module:Citation/CS1/styles.css has no content.Martinsson T, Vujic M, Tomkinson B (August 1993). "Localization of the human tripeptidyl peptidase II gene (TPP2) to 13q32-q33 by nonradioactive in situ hybridization and somatic cell hybrids". Genomics. 17 (2): 493–495. doi:10.1006/geno.1993.1353. PMID 8406500.
- Page Module:Citation/CS1/styles.css has no content.Rose C, Vargas F, Facchinetti P, Bourgeat P, Bambal RB, Bishop PB, et al. (April 1996). "Characterization and inhibition of a cholecystokinin-inactivating serine peptidase". Nature. 380 (6573): 403–409. Bibcode:1996Natur.380..403R. doi:10.1038/380403a0. PMID 8602240. S2CID 4269327.
- Page Module:Citation/CS1/styles.css has no content.Geier E, Pfeifer G, Wilm M, Lucchiari-Hartz M, Baumeister W, Eichmann K, Niedermann G (February 1999). "A giant protease with potential to substitute for some functions of the proteasome". Science. 283 (5404): 978–981. doi:10.1126/science.283.5404.978. PMID 9974389.
- Page Module:Citation/CS1/styles.css has no content.Ganellin CR, Bishop PB, Bambal RB, Chan SM, Law JK, Marabout B, et al. (February 2000). "Inhibitors of tripeptidyl peptidase II. 2. Generation of the first novel lead inhibitor of cholecystokinin-8-inactivating peptidase: a strategy for the design of peptidase inhibitors". Journal of Medicinal Chemistry. 43 (4): 664–674. doi:10.1021/jm990226g. PMID 10691692.
- Page Module:Citation/CS1/styles.css has no content.Lévy F, Burri L, Morel S, Peitrequin AL, Lévy N, Bachi A, et al. (October 2002). "The final N-terminal trimming of a subaminoterminal proline-containing HLA class I-restricted antigenic peptide in the cytosol is mediated by two peptidases". Journal of Immunology. 169 (8): 4161–4171. doi:10.4049/jimmunol.169.8.4161. PMID 12370345.
- Page Module:Citation/CS1/styles.css has no content.Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, et al. (December 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences of the United States of America. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Page Module:Citation/CS1/styles.css has no content.Lindås AC, Tomkinson B (January 2005). "Identification and characterization of the promoter for the gene encoding human tripeptidyl-peptidase II". Gene. 345 (2): 249–257. doi:10.1016/j.gene.2004.11.042. PMID 15716107.
- Page Module:Citation/CS1/styles.css has no content.Stavropoulou V, Vasquez V, Cereser B, Freda E, Masucci MG (July 2006). "TPPII promotes genetic instability by allowing the escape from apoptosis of cells with activated mitotic checkpoints". Biochemical and Biophysical Research Communications. 346 (2): 415–425. doi:10.1016/j.bbrc.2006.05.141. PMID 16762321.
- Page Module:Citation/CS1/styles.css has no content.York IA, Bhutani N, Zendzian S, Goldberg AL, Rock KL (August 2006). "Tripeptidyl peptidase II is the major peptidase needed to trim long antigenic precursors, but is not required for most MHC class I antigen presentation". Journal of Immunology. 177 (3): 1434–1443. doi:10.4049/jimmunol.177.3.1434. PMID 16849449.
- Page Module:Citation/CS1/styles.css has no content.Lindås AC, Tomkinson B (May 2007). "Characterization of the promoter of the gene encoding human tripeptidyl-peptidase II and identification of upstream silencer elements". Gene. 393 (1–2): 62–69. doi:10.1016/j.gene.2007.01.015. PMID 17343995.
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