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MGP000450

UniProt Annotations

Entry Information
Gene NameCD3e molecule, epsilon (CD3-TCR complex)
Protein EntryCD3E_HUMAN
UniProt IDP07766
SpeciesHuman
Comments
Comment typeDescription
DiseaseImmunodeficiency 18 (IMD18) [MIM:615615]: An autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell- positive, natural killer (NK) cell-positive phenotype, whereas T- cell development is not impaired in the mild form of IMD18. {ECO:0000269|PubMed:15546002, ECO:0000269|PubMed:8490660}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThe CD3 complex mediates signal transduction.
InteractionQ8TE68:EPS8L1; NbExp=6; IntAct=EBI-1211297, EBI-7487998; P16333:NCK1; NbExp=6; IntAct=EBI-1211297, EBI-389883; P43405:SYK; NbExp=6; IntAct=EBI-1211297, EBI-78302; P43403:ZAP70; NbExp=3; IntAct=EBI-1211297, EBI-1211276;
SimilarityContains 1 Ig-like (immunoglobulin-like) domain. {ECO:0000305}.
SimilarityContains 1 ITAM domain. {ECO:0000255|PROSITE- ProRule:PRU00379}.
Subcellular LocationMembrane; Single-pass type I membrane protein.
SubunitThe 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. {ECO:0000269|PubMed:15136729, ECO:0000269|PubMed:15534202, ECO:0000269|PubMed:9698567}.
Web ResourceName=CD3Ebase; Note=CD3E mutation db; URL="http://structure.bmc.lu.se/idbase/CD3Ebase/";
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