Gene content    
TFE3 ( by HUGO)
Transcription Factor Binding To IGHM Enhancer 3
Tumor suppressor gene
Transcription Factor Binding To IGHM Enhancer 3
Class E Basic Helix-Loop-Helix Protein 33
bHLHe33
RCCX1
Member A
Transcription Factor E Family
RCCP2
TFEA
Transcription Factor E Family
Member A
Transcription Factor E3
Transcription Factor For IgH Enhancer
Transcription Factor For Immunoglobulin Heavy-Chain Enhancer 3
BHLHE33
NCBI: Xp11.22    Ensembl: Xp11.23
TFE3_HUMANSize: 575 amino acidsMass: 61521 Da

  • Subunit: Homodimer and heterodimer; with TFEB or MITF Sequence caution: Sequence=CAA35714.1; Type=Frameshift; Positions=557; Sequence=CAA65800.1; Type=Erroneous gene model prediction;
  • Tissue specificity: Ubiquitous in fetal and adult tissues [IMAGE] Custom PCR Arrays for TFE3 Primer Products: [IMAGE] OriGene qPCR primer pairs and template standards for TFE3 OriGene qSTAR qPCR primer pairs in human, mouse for TFE3 [IMAGE] Pre-validated RT2 qPCR Primer Assa
  • Function:
    UniProtKB/Swiss-Prot Summary: TFE3_HUMAN, P19532 Function: Transcription factor that specifically recognizes and binds E-box sequences (5'-CANNTG-3'). Efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFEB or MITF. In association with TFEB, activates the expression of CD40L in T-cells, thereby playing a role in T-cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity. Specifically recognizes the MUE3 box, a subset of E-boxes, present in the immunoglobulin enhancer. It also binds very well to a USF/MLTF site
  • Similarity:
    Belongs to the MiT/TFE family
                          
    Contains 1 bHLH (basic helix-loop-helix) domain [IMAGE]

    • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR011598bHLH_domHelix-loop-helix DNA-bindingDomain
    BlocksIPB001092Basic helix-loop-helix dimerization domain bHLHBasic helix-loop-helix dimerization domain bHLH

    Disorder & Mutation    
    Source Disease
    SWISS-PROTNote=A chromosomal aberration involving TFE3 is found in patients with alveolar soft part sarcoma. Translocation t(X;17)(p11;q25) with ASPSCR1 forms a ASPSCR1-TFE3 fusion protein
    SWISS-PROTNote=Chromosomal aberrations involving TFE3 are found in patients with papillary renal cell carcinoma. Translocation t(X;1)(p11.2;q21.2) with PRCC; translocation t(X;1)(p11.2;p34) with PSF; inversion inv(X)(p11.2;q12) that fuses NONO to TFE3

    TFE3 cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene