CD247

Domain

The ITAM domains mediate interaction with SHB.

Function

Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:1384049, PubMed:1385158, PubMed:2470098, PubMed:7509083). CD3Z ITAMs phosphorylation creates multiple docking sites for the protein kinase ZAP70 leading to ZAP70 phosphorylation and its conversion into a catalytically active enzyme (PubMed:7509083). Plays an important role in intrathymic T-cell differentiation. Additionally, participates in the activity-dependent synapse formation of retinal ganglion cells (RGCs) in both the retina and dorsal lateral geniculate nucleus (dLGN) (By similarity).

Involvement in disease

Immunodeficiency 25

IMD25

An immunological deficiency characterized by T-cells impaired immune response to alloantigens, tetanus toxoid and mitogens.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Phosphorylated on Tyr residues after T-cell receptor triggering by LCK in association with CD4/CD8.

Sequence Similarities

Belongs to the CD3Z/FCER1G family.

Tissue Specificity

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

Cellular localization

• Cell membrane
• Single-pass type I membrane protein

Alternative names

CD247, CD3Z, T3Z, TCRZ, T-cell surface glycoprotein CD3 zeta chain, T-cell receptor T3 zeta chain

Database links

swissprot:P20963 omim:186740 omim:186780 omim:186790 omim:186830 swissprot:P09693 swissprot:P07766 swissprot:P04234 entrezGene:915 entrezGene:916 entrezGene:917 entrezGene:919