The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development.[3]
Clinical significance
Defects in this gene cause severe immunodeficiency.[4][5] This gene has also been linked to a susceptibility to type I diabetes in women.[6]
↑Gold DP, Puck JM, Pettey CL, Cho M, Coligan J, Woody JN, Terhorst C (1986). "Isolation of cDNA clones encoding the 20K non-glycosylated polypeptide chain of the human T-cell receptor/T3 complex". Nature. 321 (6068): 431–4. doi:10.1038/321431a0. PMID3012357.
↑Soudais C, de Villartay JP, Le Deist F, Fischer A, Lisowska-Grospierre B (January 1993). "Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency". Nature Genetics. 3 (1): 77–81. doi:10.1038/ng0193-77. PMID8490660.
↑Nakano H, Yamazaki T, Miyatake S, Nozaki N, Kikuchi A, Saito T (March 1996). "Specific interaction of topoisomerase II beta and the CD3 epsilon chain of the T cell receptor complex". The Journal of Biological Chemistry. 271 (11): 6483–9. doi:10.1074/jbc.271.11.6483. PMID8626450.
↑Yamazaki T, Hamano Y, Tashiro H, Itoh K, Nakano H, Miyatake S, Saito T (June 1999). "CAST, a novel CD3epsilon-binding protein transducing activation signal for interleukin-2 production in T cells". The Journal of Biological Chemistry. 274 (26): 18173–80. doi:10.1074/jbc.274.26.18173. PMID10373416.
↑Gil D, Schamel WW, Montoya M, Sánchez-Madrid F, Alarcón B (June 2002). "Recruitment of Nck by CD3 epsilon reveals a ligand-induced conformational change essential for T cell receptor signaling and synapse formation". Cell. 109 (7): 901–12. doi:10.1016/S0092-8674(02)00799-7. PMID12110186.
Further reading
Li CJ (December 2006). "Therapeutic biology: checkpoint pathway activation therapy, HIV Tat, and transkingdom RNA interference". Journal of Cellular Physiology. 209 (3): 695–700. doi:10.1002/jcp.20817. PMID17001685.
Thoenes G, Soudais C, le Deist F, Griscelli C, Fischer A, Lisowska-Grospierre B (January 1992). "Structural analysis of low TCR-CD3 complex expression in T cells of an immunodeficient patient". The Journal of Biological Chemistry. 267 (1): 487–93. PMID1370449.
Luzzati AL, Giacomini E, Giordani L, Pugliese O, Viora M, Chersi A (August 1992). "The antigen-specific induction of normal human lymphocytes in vitro is down-regulated by a conserved HIV p24 epitope". Immunology Letters. 33 (3): 307–14. doi:10.1016/0165-2478(92)90078-3. PMID1385321.
Lanier LL, Chang C, Spits H, Phillips JH (September 1992). "Expression of cytoplasmic CD3 epsilon proteins in activated human adult natural killer (NK) cells and CD3 gamma, delta, epsilon complexes in fetal NK cells. Implications for the relationship of NK and T lymphocytes". Journal of Immunology. 149 (6): 1876–80. PMID1387664.
Ruegg CL, Strand M (October 1991). "A synthetic peptide with sequence identity to the transmembrane protein GP41 of HIV-1 inhibits distinct lymphocyte activation pathways dependent on protein kinase C and intracellular calcium influx". Cellular Immunology. 137 (1): 1–13. doi:10.1016/0008-8749(91)90051-C. PMID1832084.
Luzzati AL, Pugliese O, Giacomini E, Giordani L, Quintieri F, Hraba T, Mach O, Krchnák V, Vágner J (1990). "Immunoregulatory effect of a synthetic peptide corresponding to a region of protein p24 of HIV". Folia Biologica. 36 (1): 71–7. PMID2111780.
Koning F, Maloy WL, Coligan JE (February 1990). "The implications of subunit interactions for the structure of the T cell receptor-CD3 complex". European Journal of Immunology. 20 (2): 299–305. doi:10.1002/eji.1830200211. PMID2138083.
van den Elsen P, Shepley BA, Cho M, Terhorst C (1985). "Isolation and characterization of a cDNA clone encoding the murine homologue of the human 20K T3/T-cell receptor glycoprotein". Nature. 314 (6011): 542–4. doi:10.1038/314542a0. PMID2859526.
Gold DP, Puck JM, Pettey CL, Cho M, Coligan J, Woody JN, Terhorst C (1986). "Isolation of cDNA clones encoding the 20K non-glycosylated polypeptide chain of the human T-cell receptor/T3 complex". Nature. 321 (6068): 431–4. doi:10.1038/321431a0. PMID3012357.
Beecher MS, Baiocchi RA, Linett ML, Krajewski CA, Caligiuri MA (May 1994). "Expression of the zeta protein subunit in CD3- NK effectors derived from human thymus". Cellular Immunology. 155 (2): 508–16. doi:10.1006/cimm.1994.1143. PMID7514106.
Luzzati AL, Giacomini E, Giordani L, Viora M, Chersi A, Camponeschi B, Pugliese O (July 1994). "An HIV p24 heptapeptide down-regulates antigen-specific responses in vitro interfering at the level of the T3-Ti complex". Cellular Immunology. 156 (2): 286–95. doi:10.1006/cimm.1994.1175. PMID7517794.
Dianzani U, Bragardo M, Buonfiglio D, Redoglia V, Funaro A, Portoles P, Rojo J, Malavasi F, Pileri A (May 1995). "Modulation of CD4 lateral interaction with lymphocyte surface molecules induced by HIV-1 gp120". European Journal of Immunology. 25 (5): 1306–11. doi:10.1002/eji.1830250526. PMID7539755.
Müller B, Cooper L, Terhorst C (January 1995). "Interplay between the human TCR/CD3 epsilon and the B-cell antigen receptor associated Ig-beta (B29)". Immunology Letters. 44 (2–3): 97–103. doi:10.1016/0165-2478(94)00199-2. PMID7541024.
