MGP Database

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MGP000451

UniProt Annotations

Entry Information
Gene NameCD3g molecule, gamma (CD3-TCR complex)
Protein EntryCD3G_HUMAN
UniProt IDP09693
SpeciesHuman
Comments
Comment typeDescription
DiseaseImmunodeficiency 17 (IMD17) [MIM:615607]: An autosomal recessive primary immunodeficiency characterized by highly variable clinical severity. Some patients have onset of severe recurrent infections in early infancy that may be lethal, whereas others may be only mildly affected or essentially asymptomatic into young adulthood. More severely affected patients may have evidence of autoimmune disease or enteropathy. The immunologic pattern is similar among patients, showing partial T-cell lymphopenia, decreased amounts of the CD3 complex, and impaired proliferative responses to T-cell receptor dependent stimuli. The phenotype in some patients is reminiscent of severe combined immunodeficiency. {ECO:0000269|PubMed:1635567, ECO:0000269|PubMed:17277165}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainA di-leucine motif and a tyrosine-based motif are individually sufficient to induce both endocytosis and delivery to lysosomes.
FunctionThe CD3 complex mediates signal transduction.
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}.
Web ResourceName=CD3Gbase; Note=CD3G mutation db; URL="http://structure.bmc.lu.se/idbase/CD3Gbase/";
Web ResourceName=Wikipedia; Note=CD3 receptor entry; URL="http://en.wikipedia.org/wiki/CD3_receptor";
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