MGP Database

MGP000449

UniProt Annotations

Entry Information
Gene NameCD3d molecule, delta (CD3-TCR complex)
Protein EntryCD3D_HUMAN
UniProt IDP04234
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P04234-1; Sequence=Displayed; Name=2; IsoId=P04234-2; Sequence=VSP_045800; Note=No experimental confirmation available.;
DiseaseImmunodeficiency 19 (IMD19) [MIM:615617]: An autosomal recessive form of severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T-cell negative, B-cell positive, NK- cell positive phenotype. {ECO:0000269|PubMed:15546002, ECO:0000269|PubMed:21883749}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseSevere combined immunodeficiency autosomal recessive T- cell-negative/B-cell-positive/NK-cell-positive (T(-)B(+)NK(+) SCID) [MIM:608971]: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. {ECO:0000269|PubMed:14602880}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThe CD3 complex mediates signal transduction.
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:15534202}.
Web ResourceName=CD3Dbase; Note=CD3D mutation db; URL="http://structure.bmc.lu.se/idbase/CD3Dbase/";
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