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FLASH GENE
Symbol TFE3 contributors: mct - updated : 13-09-2013
HGNC name transcription factor binding to IGHM enhancer 3
HGNC id 11752
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • DNA binding protein with basic helix- loop- helix and leucine zipper domains
  • myosin tail
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Mitf
    ortholog to murine Tcfe3
    homolog to C.elegans F15C11.1
    intraspecies homolog to microphtalmia (MITF)
    homolog to TFEB
    Homologene
    FAMILY
  • MiT family of basic helix-loop-helix (BHLH) transcription factors
  • BHLH-ZIP subfamily
  • MiT/TFE family
  • CATEGORY regulatory , DNA associated , transcription factor , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,chromatin/chromosome
    text different subcellular regulation of MITF and TFE3 may be due to the different roles that they play during osteoclast and macrophage differentiation
    basic FUNCTION
  • activator of transcription
  • transcriptionally activating hepatic IRS2, participating in insulin signaling and ameliorating diabetes
  • endogenous TFE3 and/or TFEB was required for endogenous CDH1 expression in embryonic kidney cells
  • TFE3 and TFEB are broadly expressed transcription factors related to the transcription factor MITF
  • TFE3 and TFEB are direct, physiological and mutually redundant activators of CD40LG expression in activated CD4(+) T cells critical for T cell-dependent antibody responses
  • involved in chromosomal translocations recurrent in different tumors and it plays, redundantly with MITF, an important role in the process of osteoclast formation, in particular during the transition from mono-nucleated to multi-nucleated osteoclasts
  • bHLH transcription factor that strongly activates various insulin signaling molecules, protecting against the development of insulin resistance and the metabolic syndrome
  • regulates the expression of MAFB during macrophage differentiation
  • regulator of mast cell functions
  • has a regulatory role in myoblast differentiation, and transcriptional suppression of MYOG expression may be part of the mechanism of action
  • transcription factor that binds to E-box motifs and promotes energy metabolism-related genes
  • regulates lipid metabolism by controlling the gene expression related to lipolysis and thermogenesis in adipose tissue
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text
  • melanogenesis
  • activator of transcription
  • PATHWAY
    metabolism
    signaling
    a component
  • dimerization with another BHLH protein
  • INTERACTION
    DNA binding to IgH enhancer motif muE3 and to a USF/MLTF site
    RNA
    small molecule
    protein
  • activating of tyrosinase and TYRP1 promoter
  • IRS2, HK2 and INSIG1 are direct targets of TFE3
  • TFE3 and TFEC proteins may collaborate with MITF to efficiently regulate expression of target genes in osteoclasts
  • negatively regulated myogenin promoter activity by direct binding to an E-box, E2, in the MYOG promoter
  • directly integrates into the pluripotency circuitry through transcriptional regulation of ESRRB
  • directly binds to the insulin receptor substrate-2 promoter in the liver, resulting in increased insulin response
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion translocation    
    t(X;1) (p11.2;q21.2) and fused with PRCC in papillary renal cell carcinoma
    tumoral fusion translocation    
    t(X;17) (p11.2;q25) and fused with ASPSCR1 in alveolar soft part sarcoma
    tumoral fusion      
    with CLTC in t(X;17)(p11.2;q23) in renal adenocarcinoma
    tumoral fusion      
    ASPL-TFE3 gene fusion associated with an acquired t(X,17) in a subset of RCC
    tumoral     --over  
    in clear cell (conventional) carcinoma and in some cases to papillary renal carcinoma
    constitutional     --over  
    during macrophage differentiation
    tumoral fusion      
    YAP1-TFE3 fusions in epithelioid hemangioendothelioma
    tumoral   translocation    
    with CAMTA1 in Epithelioid hemangioendotheliomas
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    diabete  
    could be a therapeutic target for diabetes
    ANIMAL & CELL MODELS
    combined inactivation of Tfe3 and Tfeb in T cells resulted in a hyper-immunoglobulin M syndrome due to impaired expression of CD40 ligand by CD4(+) T cells