TRA (T cell Receptor Alpha)

2000-07-01   Marie-Paule Lefranc 

IMGT, LIGM, IGH, UPR CNRS 1142, 141 rue de la Cardonille, 34396 Montpellier Cedex 5, France

Identity

HGNC
LOCATION
14q11.2
IMAGE
Atlas Image
LEGEND
for complete Figure, see: chromosome 14, IMGT (The International ImMunoGeneTics information system ®) © Copyright 1995-2017 IMGT, IMGT is a CNRS trademark
IMAGE
Atlas Image
LEGEND
TRA (T cell Receptor Alpha) Top: Probe bA60K12 - Courtesy Mariano Rocchi; Bottom: Hybridization with Vysis TRA/D Break Apart probe (Abbott Molecular, US) showing the gene on 14q11.2 (red-green or a fused yellow signal) - Courtesy Adriana Zamecnikova.
LOCUSID
ALIAS
IMD7,TCRA,TRA@

DNA/RNA

Atlas Image
TRA/TRD
V-GENE: Green box: Functional; Red: Pseudogene.
D-GENE: Blue: Functional.
J-GENE: Yellow: Functional; Pale yellow: Open reading frame; Red: pseudogene.
C-GENE: Blue: Functional.
for complete Figure, see: locus TRA, IMGT (The International ImMunoGeneTics information system ®) © Copyright 1995-2017 IMGT, IMGT is a CNRS trademark

Description

  • The human TRA locus at 14q11.2 spans 1000 kilobases (kb). It consists of 54 TRAV genes belonging to 41 subgroups, 61 TRAJ segments localized on 71 kb, and a unique TRAC gene.
  • The most 5 TRAV genes occupy the most centromeric position, whereas the TRAC genes, 3 of the locus, is the most telomeric gene in the TRA locus.
  • The organization of the TRAJ segments on a large area is quite unusual and has not been observed in the other immunoglobulin or T cell receptor loci.
  • Moreover the TRD locus is nestled in the TRA locus between the TRAV and TRAJ segments. V-J-rearrangements in the TRA locus therefore result in deletion of the TRD genes localized on the same chromosome. That deletion occurs in two steps, that is a deletion of the TRD genes, involving specific sequences located upstream from TRDC (sequence pseudo J alpha) would take place before the TRAV-J rearrangement.
  • The potentiel genomic TRA repertoire comprises 45-47 functional TRAV genes belonging to 33-35 subgroups, 50 functional TRAJ segments, and the unique TRAC gene.
  • Among the variable genes are included five genes designated as TRAV/DV which belong to five different subgroups and which have been found rearranged either to TRAJ or to TRDD segments and can therefore be used in the synthesis of alpha or delta chains.
  • The total number of human TRA genes per haploid genome is 116 of which 96 to 98 genes are functional. Enhancer sequences have been characterized 4.5kb 3 from TRAC.
  • List of the human TRA genes
  • Mutations

    Note

    Mutations which correspond to allelic polymorphisms of the functional germline TRAV, TRAJ and TRAC genes are described in the IMGT database: (IMGT Repertoire>Alignments of alleles)

    Implicated in

    Entity name
    Translocations which frequently result from errors of the recombinase enzyme complex (RAG1, RAG2, etc.), which is responsable of the Immunoglobulin and T cell receptor V-J and V-D-J rearrangements. TRAV or TRAJ recombination signals or isolated heptamer are observed at the breakpoints.
    Atlas Image
    TRA (T cell Receptor Alpha) Hybridization with Vysis TRA/D Break Apart probe (Abbott Molecular, US) showing the gene on 14q11.2 (red-green or a fused yellow signal) - Courtesy Adriana Zamecnikova.
    Entity name
    t(1;14)(p32;q11); involve TRA - TAL1 in 1p32
    Prognosis
    median survival > 5 yrs in children
    Entity name
    t(8;14)(q24;q11); involve TRA - MYC in 8q24
    Disease
    T-cell acute lymphocytic leukemia (ALL); rare
    Entity name
    t(10;14)(q24;q11); involve TRA - HOX11 in 10q24
    Disease
    T- cell acute lymphoblastic leukemia (ALL) and non-Hodgkin lymphoma (NHL)
    Prognosis
    not unfavourable
    Entity name
    t(11;14)(p13;q11); involve RBTN2 in 11p13
    Disease
    T-cell acute lymphocytic leukemia (ALL)
    Entity name
    Disease
    T-cell prolymphocytic leukemia (T-PLL) and adult T cell leukemia/lymphoma
    Prognosis
    poor
    Entity name
    t(14;21)(q11;q22); involve TRA - OLIG2 in 21q22
    Disease
    T-cell acute lymphoblastic leukemia (ALL)
    Prognosis
    unknown

    Breakpoints

    Atlas Image

    Bibliography

    Pubmed IDLast YearTitleAuthors
    95194061998Crystal structure of p14TCL1, an oncogene product involved in T-cell prolymphocytic leukemia, reveals a novel beta-barrel topology.Hoh F et al

    Other Information

    Locus ID:

    NCBI: 6955
    HGNC: 12027

    Variants:

    dbSNP: 6955
    ClinVar: 6955
    COSMIC: TRA

    References

    Pubmed IDYearTitleCitations
    194121762009Narcolepsy is strongly associated with the T-cell receptor alpha locus.138
    194121762009Narcolepsy is strongly associated with the T-cell receptor alpha locus.138
    250493332014MR1-restricted MAIT cells display ligand discrimination and pathogen selectivity through distinct T cell receptor usage.74
    169688992007Efficiency of T-cell receptor expression in dual-specific T cells is controlled by the intrinsic qualities of the TCR chains within the TCR-CD3 complex.59
    205195032010Serine residues in the cytosolic tail of the T-cell antigen receptor alpha-chain mediate ubiquitination and endoplasmic reticulum-associated degradation of the unassembled protein.47
    183787922008A minimal binding footprint on CD1d-glycolipid is a basis for selection of the unique human NKT TCR.46
    238782182013Dietary gluten triggers concomitant activation of CD4+ and CD8+ αβ T cells and γδ T cells in celiac disease.46
    216733452011Novel adoptive T-cell immunotherapy using a WT1-specific TCR vector encoding silencers for endogenous TCRs shows marked antileukemia reactivity and safety.39
    254224322014Molecular architecture of the αβ T cell receptor-CD3 complex.37
    190566902009An early decrease in Notch activation is required for human TCR-alphabeta lineage differentiation at the expense of TCR-gammadelta T cells.33

    Citation

    Marie-Paule Lefranc

    TRA (T cell Receptor Alpha)

    Atlas Genet Cytogenet Oncol Haematol. 2000-07-01

    Online version: http://atlasgeneticsoncology.org/gene/39/tra-(t-cell-receptor-alpha)