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FLASH GENE
Symbol TOX3 contributors: mct/npt/pgu - updated : 06-05-2009
HGNC name TOX high mobility group box family member 3
HGNC id 11972
Location 16q12.1      Physical location : 52.471.917 - 52.581.714
Synonym name
  • trinucleotide repeat containing 9
  • CAG trinucleotide repeat-containing gene F9 protein
  • Synonym symbol(s) CAGF9, TNRC9
    DNA
    TYPE functioning gene
    STRUCTURE 108.90 kb     8 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 3121 - 589 - 2003 12697058
    - - 3123 - 571 - 2003 12697058
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainhindbraincerebellumcerebellar cortexpredominantly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral  predominantly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • HMG-box domain first appeared in invertebrates, duplicated in early vertebrates and likely took on new functions in mammalian species
  • HOMOLOGY
    interspecies ortholog to murine Tnrc9
    Homologene
    FAMILY
  • high mobility group box family
  • CATEGORY regulatory , DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • involved in regulation of transcription, DNA-dependent
  • HMG-box protein involved in T cell development
  • high mobility group box protein involved in mediating calcium-dependent transcription
  • important regulator of calcium-dependent transcription and may exerts its effect on CRE-mediated transcription via its association with the CREBCBP complex
  • regulates Ca(2+)-dependent transcription in neurons through interaction with the cAMP-response-element-binding protein (CREB1)
  • can enhance transcriptional activation from different cytoprotective promoters and this is dependent on the predominance of either phosphorylated CREB1 or CITED1 within the transcriptionally active complex
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • interacts with both cAMP response element (CRE)-binding protein (CREB) and CREB-binding protein (CBP)
  • interacts with native CREB1 and induces the CREB1-responsive BCL2 promoter, which can be inhibited by coexpression of CITED1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to restless legs syndrome
  • Variant & Polymorphism SNP increasing the risk of restless legs syndrome
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS