CD247

T-cell surface glycoprotein CD3 zeta chain ;
T-cell receptor T3 zeta chain ;
CD antigen CD247 ;

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.,

activation of immune response, immune response-activating cell surface receptor signaling pathway, positive regulation of immune system process, immune response-activating signal transduction, immune response-regulating signal transduction, immune response-regulating cell surface receptor signaling pathway, cell surface receptor linked signal transduction, positive regulation of response to stimulus, positive regulation of immune response, antigen receptor-mediated signaling pathway, T cell receptor signaling pathway,

Cell membrane ; Single-pass type I membrane protein.

CD3Z is expressed in normal lymphoid tissue and in peripheral blood mononuclear cells (PBMCs) (PubMed:11722641).