PTPN22
enzima
La protein-tirosin-fosfatasi non recettoriale 22, anche nota con l'acronimo PTPN22, è una proteina con proprietà enzimatiche codificata dal gene PTPN22. Tale gene può essere espresso in varie forme. Essendo coinvolto nella responsività dei recettori dei linfociti B e T, le sue mutazioni possono essere responsabili dell'insorgenza di malattie autoimmuni[1][2].
| PTPN22 | |
|---|---|
 Modello tridimensionale dell'enzima | |
| Numero EC | 3.1.3.48 |
| Classe | Idrolasi |
| Nome sistematico | |
| Protein tyrosine phosphatase, non-receptor type 22 (lymphoid) | |
| Banche dati | BRENDA, EXPASY, GTD, PDB (RCSB PDB PDBe PDBj PDBsum) |
| Fonte: IUBMB | |
Note modifica
- ^ Matthews RJ, Bowne DB, Flores E, Thomas ML, Characterization of hematopoietic intracellular protein tyrosine phosphatases: description of a phosphatase containing an SH2 domain and another enriched in proline-, glutamic acid-, serine-, and threonine-rich sequences, in Mol. Cell. Biol., vol. 12, n. 5, maggio 1992, pp. 2396–405, PMC 364412, PMID 1373816.
- ^ Cohen S, Dadi H, Shaoul E, Sharfe N, Roifman CM, Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp, in Blood, vol. 93, n. 6, marzo 1999, pp. 2013–24, PMID 10068674.
Approfondimenti modifica
- Gregersen PK, Pathways to gene identification in rheumatoid arthritis: PTPN22 and beyond, in Immunol. Rev., vol. 204, aprile 2005, pp. 74–86, DOI:10.1111/j.0105-2896.2005.00243.x, PMID 15790351.
- Brand O, Gough S, Heward J, HLA , CTLA-4 and PTPN22 : the shared genetic master-key to autoimmunity?, in Expert Rev Mol Med, vol. 7, n. 23, ottobre 2005, pp. 1–15, DOI:10.1017/S1462399405009981, PMID 16229750.
- Bottini N, Vang T, Cucca F, Mustelin T, Role of PTPN22 in type 1 diabetes and other autoimmune diseases, in Semin. Immunol., vol. 18, n. 4, agosto 2006, pp. 207–13, DOI:10.1016/j.smim.2006.03.008, PMID 16697661.
- Gjörloff-Wingren A, Saxena M, Han S, et al., Subcellular localization of intracellular protein tyrosine phosphatases in T cells, in Eur. J. Immunol., vol. 30, n. 8, agosto 2000, pp. 2412–21, DOI:10.1002/1521-4141(2000)30:8<2412::AID-IMMU2412>3.0.CO;2-J, PMID 10940933.
- Hill RJ, Zozulya S, Lu YL, Ward K, Gishizky M, Jallal B, The lymphoid protein tyrosine phosphatase Lyp interacts with the adaptor molecule Grb2 and functions as a negative regulator of T-cell activation, in Exp. Hematol., vol. 30, n. 3, marzo 2002, pp. 237–44, PMID 11882361.
- Chien W, Tidow N, Williamson EA, et al., Characterization of a myeloid tyrosine phosphatase, Lyp, and its role in the Bcr-Abl signal transduction pathway, in J. Biol. Chem., vol. 278, n. 30, luglio 2003, pp. 27413–20, DOI:10.1074/jbc.M304575200, PMID 12764153.
- Bottini N, Musumeci L, Alonso A, et al., A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes, in Nat. Genet., vol. 36, n. 4, aprile 2004, pp. 337–8, DOI:10.1038/ng1323, PMID 15004560.
- Begovich AB, Carlton VE, Honigberg LA, et al., A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis, in Am. J. Hum. Genet., vol. 75, n. 2, agosto 2004, pp. 330–7, DOI:10.1086/422827, PMC 1216068, PMID 15208781.
- Kyogoku C, Langefeld CD, Ortmann WA, et al., Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE, in Am. J. Hum. Genet., vol. 75, n. 3, settembre 2004, pp. 504–7, DOI:10.1086/423790, PMC 1182029, PMID 15273934.
- Smyth D, Cooper JD, Collins JE, et al., Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus, in Diabetes, vol. 53, n. 11, novembre 2004, pp. 3020–3, PMID 15504986.
- Ladner MB, Bottini N, Valdes AM, Noble JA, Association of the single nucleotide polymorphism C1858T of the PTPN22 gene with type 1 diabetes, in Hum. Immunol., vol. 66, n. 1, gennaio 2005, pp. 60–4, DOI:10.1016/j.humimm.2004.09.016, PMID 15620463.
- Orozco G, Sánchez E, González-Gay MA, et al., Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus, in Arthritis Rheum., vol. 52, n. 1, gennaio 2005, pp. 219–24, DOI:10.1002/art.20771, PMID 15641066.
- Steer S, Lad B, Grumley JA, Kingsley GH, Fisher SA, Association of R602W in a protein tyrosine phosphatase gene with a high risk of rheumatoid arthritis in a British population: evidence for an early onset/disease severity effect, in Arthritis Rheum., vol. 52, n. 1, gennaio 2005, pp. 358–60, DOI:10.1002/art.20737, PMID 15641088.
- Zheng W, She JX, Genetic association between a lymphoid tyrosine phosphatase (PTPN22) and type 1 diabetes, in Diabetes, vol. 54, n. 3, marzo 2005, pp. 906–8, PMID 15734872.
- Zhernakova A, Eerligh P, Wijmenga C, Barrera P, Roep BO, Koeleman BP, Differential association of the PTPN22 coding variant with autoimmune diseases in a Dutch population, in Genes Immun., vol. 6, n. 6, settembre 2005, pp. 459–61, DOI:10.1038/sj.gene.6364220, PMID 15875058.
