T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed... See more...

Aliases for TRAV12-1 Gene

Aliases for TRAV12-1 Gene

  • T Cell Receptor Alpha Variable 12-1 2 3 4 5
  • TCRAV12S1 3
  • TCRAV2S3 3
  • TRAV12-1 5
  • TRAV121 3

External Ids for TRAV12-1 Gene

Previous GeneCards Identifiers for TRAV12-1 Gene

  • GC14U990311
  • GC14P020299
  • GC14P021379
  • GC14P022310

Summaries for TRAV12-1 Gene

Entrez Gene Summary for TRAV12-1 Gene

  • T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

GeneCards Summary for TRAV12-1 Gene

TRAV12-1 (T Cell Receptor Alpha Variable 12-1) is a Protein Coding gene. An important paralog of this gene is TRAV12-3.

UniProtKB/Swiss-Prot Summary for TRAV12-1 Gene

  • V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).

Additional gene information for TRAV12-1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRAV12-1 Gene

Genomics for TRAV12-1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TRAV12-1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J021840 Promoter 0.6 Ensembl 600.7 +0.3 261 0.6 ZNF248 CTCF ZNF544 TRAV12-1 SALL2 TRAV8-2 lnc-ABHD4-12 TRA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TRAV12-1 on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for TRAV12-1 Gene

Genomic Locations for TRAV12-1 Gene
chr14:21,841,240-21,841,774
(GRCh38/hg38)
Size:
535 bases
Orientation:
Plus strand
chr14:22,309,422-22,309,956
(GRCh37/hg19)
Size:
535 bases
Orientation:
Plus strand

Genomic View for TRAV12-1 Gene

Genes around TRAV12-1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRAV12-1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRAV12-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRAV12-1 Gene

Proteins for TRAV12-1 Gene

  • Protein details for TRAV12-1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A0A0B4J245-TVAL1_HUMAN
    Recommended name:
    T cell receptor alpha variable 12-1
    Protein Accession:
    A0A0B4J245

    Protein attributes for TRAV12-1 Gene

    Size:
    112 amino acids
    Molecular mass:
    12865 Da
    Quaternary structure:
    • Alpha-beta TR is a heterodimer composed of an alpha and beta chain; disulfide-linked. The alpha-beta TR is associated with the transmembrane signaling CD3 coreceptor proteins to form the TR-CD3 (TcR or TCR). The assembly of alpha-beta TR heterodimers with CD3 occurs in the endoplasmic reticulum where a single alpha-beta TR heterodimer associates with one CD3D-CD3E heterodimer, one CD3G-CD3E heterodimer and one CD247 homodimer forming a stable octomeric structure. CD3D-CD3E and CD3G-CD3E heterodimers preferentially associate with TR alpha and TR beta chains, respectively. The association of the CD247 homodimer is the last step of TcR assembly in the endoplasmic reticulum and is required for transport to the cell surface.

neXtProt entry for TRAV12-1 Gene

Post-translational modifications for TRAV12-1 Gene

Other Protein References for TRAV12-1 Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for TRAV12-1 Gene

Domains & Families for TRAV12-1 Gene

Gene Families for TRAV12-1 Gene

Protein Domains for TRAV12-1 Gene

genes like me logo Genes that share domains with TRAV12-1: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TRAV12-1 Gene

Function for TRAV12-1 Gene

Molecular function for TRAV12-1 Gene

UniProtKB/Swiss-Prot Function:
V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TRAV12-1 Gene

Localization for TRAV12-1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRAV12-1 Gene

Cell membrane.

Gene Ontology (GO) - Cellular Components for TRAV12-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0042101 T cell receptor complex IEA --
genes like me logo Genes that share ontologies with TRAV12-1: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for TRAV12-1 Gene

Pathways & Interactions for TRAV12-1 Gene

PathCards logo

SuperPathways for TRAV12-1 Gene

No Data Available

Interacting Proteins for TRAV12-1 Gene

Gene Ontology (GO) - Biological Process for TRAV12-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
genes like me logo Genes that share ontologies with TRAV12-1: view

No data available for Pathways by source and SIGNOR curated interactions for TRAV12-1 Gene

Drugs & Compounds for TRAV12-1 Gene

No Compound Related Data Available

Transcripts for TRAV12-1 Gene

mRNA/cDNA for TRAV12-1 Gene

1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for TRAV12-1 Gene

No ASD Table

Relevant External Links for TRAV12-1 Gene

GeneLoc Exon Structure for
TRAV12-1

Expression for TRAV12-1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TRAV12-1 Gene

mRNA differential expression in normal tissues according to GTEx for TRAV12-1 Gene

This gene is overexpressed in Whole Blood (x33.7) and Spleen (x4.8).
genes like me logo Genes that share expression patterns with TRAV12-1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TRAV12-1 Gene

Orthologs for TRAV12-1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for TRAV12-1 Gene

Organism Taxonomy Gene Similarity Type Details
Mouse
(Mus musculus)
Mammalia Trav7-3 31
  • 61 (a)
ManyToMany
Trav7d-3 31
  • 61 (a)
ManyToMany
Trav7-6 31
  • 56 (a)
ManyToMany
Trav7-2 31
  • 54 (a)
ManyToMany
Trav7d-4 31
  • 54 (a)
ManyToMany
Trav7-4 31
  • 53 (a)
ManyToMany
Trav7d-5 31
  • 52 (a)
ManyToMany
Trav7n-6 31
  • 46 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia -- 31
  • 57 (a)
ManyToMany
-- 31
  • 42 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia -- 31
  • 50 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 38 (a)
OneToMany
Species where no ortholog for TRAV12-1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for TRAV12-1 Gene

ENSEMBL:
Gene Tree for TRAV12-1 (if available)
TreeFam:
Gene Tree for TRAV12-1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TRAV12-1: view image

Paralogs for TRAV12-1 Gene

Paralogs for TRAV12-1 Gene

genes like me logo Genes that share paralogs with TRAV12-1: view

Variants for TRAV12-1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TRAV12-1 Gene

TVAL1_HUMAN-A0A0B4J245
There are several alleles. The sequence shown is that of IMGT allele TRAV12-1*01.

Additional Variant Information for TRAV12-1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRAV12-1

No data available for Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for TRAV12-1 Gene

Disorders for TRAV12-1 Gene

Additional Disease Information for TRAV12-1

No disorders were found for TRAV12-1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TRAV12-1 Gene

Publications for TRAV12-1 Gene

  1. The human T-cell receptor TCRAC/TCRDC (C alpha/C delta) region: organization, sequence, and evolution of 97.6 kb of DNA. (PMID: 8188290) Koop BF … Hood L (Genomics 1994) 2 3
  2. T cell antigen receptor recognition of antigen-presenting molecules. (PMID: 25493333) Rossjohn J … McCluskey J (Annual review of immunology 2015) 4
  3. Immunoglobulin and T Cell Receptor Genes: IMGT(®) and the Birth and Rise of Immunoinformatics. (PMID: 24600447) Lefranc MP (Frontiers in immunology 2014) 4
  4. T cell receptor signalling networks: branched, diversified and bounded. (PMID: 23524462) Brownlie RJ … Zamoyska R (Nature reviews. Immunology 2013) 4
  5. Structural biology of the T-cell receptor: insights into receptor assembly, ligand recognition, and initiation of signaling. (PMID: 20452950) Wucherpfennig KW … Call ME (Cold Spring Harbor perspectives in biology 2010) 4

Products for TRAV12-1 Gene

Sources for TRAV12-1 Gene