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FLASH GENE
Symbol CD3E contributors: mct - updated : 01-09-2017
HGNC name CD3E antigen, epsilon polypeptide (TiT3 complex)
HGNC id 1674
Corresponding disease
IMD18 immunodeficiency 18 , severe, combined lacking T cell expression
SCIDTE severe combined immunodeficiency lacking T cells
Location 11q23.3      Physical location : 118.175.294 - 118.186.889
Synonym name cell differentiation antigen CD3E (gp16),epsilon polypeptide
Synonym symbol(s) TCRE, T3E, IMD18
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
text
  • see CD3@
  • clustered with CD3delta, CD3gamma
  • STRUCTURE 11.60 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see CD3@
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1534 - 207 - 2011 21669059
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen   highly
     thymus   highly
    Reproductivefemale systemplacenta  moderately Homo sapiensFetal
    Urinarykidneytubuleconvoluted tubule  Homo sapiensFetal
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneT cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text highly expresed in umbilical cord blood
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an Ig extracellular domain
  • a cytoplasmic tail with the immunoreceptor tyrosine based activation motif (ITAM)
  • a short extracellular stalk connecting its Ig-like domains to its transmembrane regions
  • HOMOLOGY
    interspecies ortholog to murine Cd3e
    homolog to rattus Rn.23767
    homolog to C.elegans B0281.5
    Homologene
    FAMILY immunoglobuline superfamily
    CATEGORY regulatory , antigen , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • type I membrane protein
  • bind to the inner leaflet of the plasma membrane (PM)
  • basic FUNCTION
  • acting as a T-cell receptor
  • the stalks of the CD3G, CD3E, CD3D, CD247 may be critical in transmitting part of the activation signal directly through the membrane
  • membrane association of the CD3E signaling domain is required for optimal thymocyte development and peripheral T cell function
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS immunity/defense
    text positive regulation of cell proliferation
    PATHWAY
    metabolism hormone
    signaling signal transduction
    a component
  • with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • strong binding of CD3epsilon to EPS8L1 and NCK1 SH3 domains
  • binds EPS8L1 SH3 in a class II orientation, but neither adopts a polyproline II helical conformation nor engages the first proline-binding pocket of the SH3 ligand binding interface
  • NCK1 recruitment to the TCR is fundamental to mount an efficient T cell response, and the NCK1-CD3E interaction may represent a target for pharmacological modulation of the immune response
  • CD3E recruits NUMB to promote TCR degradation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IMD18 , SCIDTE
    related resource CD3Ebase: Mutation registry for autosomal recessive CD3epsilon immunodeficiency
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in patients with aplastic anemia (AA)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • CD3epsilon transgenic mice, tgepsilon26, exhibits severe immunodeficiency associated with early arrest of T cell development
  • mice lacking a functional Cd3e-basic-rich stretch (BRS) exhibited substantial reductions in thymic cellularity and limited CD4- CD8- double-negative (DN) 3 to DN4 thymocyte transition