CD247, CD3Z, T3Z, TCRZ, T-cell surface glycoprotein CD3 zeta chain, T-cell receptor T3 zeta chain, CD antigen CD247
The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008],disease:Defects in CD247 are a cause of primary T-cell immunodeficiency [MIM:610163]. Affected individuals suffer of recurrent infections. Patients T-cell counts are very low and B-cell counts are normal.,domain:The ITAM domains mediate interaction with SHB.,function:Probable role in assembly and expression of the TCR complex as well as signal transduction upon antigen triggering.,online information:CD247 mutation db,PTM:Phosphorylated on Tyr residues after T-cell receptor triggering.,similarity:Belongs to the CD3Z/FCER1G family.,similarity:Contains 3 ITAM domains.,subunit:The TCR/CD3 complex of T-lymphocytes consists of either a TCR alpha/beta or TCR gamma/delta heterodimer coexpressed at the cell surface with the invariant subunits of CD3 labeled gamma, delta, epsilon, zeta, and eta. CD3-zeta forms either homodimers or heterodimers with CD3-eta. Interacts with SLA and SLA2. Interacts with DOCK2 and TRAT1. Interacts with HIV-1 Nef protein. Interacts with SHB.,
