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Description for Protein TFE3

transcription factor binding to IGHM enhancer 3
23 total interacting proteins; 13 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The microphthalmia transcription factor/transcription factor E (MITF-TFE) family of basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factors includes four family members: MITF, TFE3, TFEB and TFEC. The TEF3 protein encoded by this gene activates transcription through binding to the muE3 motif of the immunoglobulin heavy-chain enhancer. The TFEC protein forms heterodimers with the TEF3 protein and inhibits TFE3-dependent transcription activation. The TEF3 protein interacts with transcription regulators such as E2F3, SMAD3, and LEF-1, and is involved in TGF-beta-induced transcription, playing important roles in cell growth, proliferation, and osteoclast and macrophage differentiation. The TFE3 protein also activates hepatic IRS-2 gene, and induces hexokinase II (HK2) and insulin-induced gene 1 (INSIG1); it participates in insulin signaling and could be a therapeutic target for diabetes. This gene is also involved in chromosomal translocations, resulting in different fusion gene products in papillary renal cell carcinomas and alveolar soft part sarcomas, such as PRCC-TFE3, RCC17-TFE3, PSF-TFE3, NonO (p54nrb)-TFE3 and ASPL-TFE3. (PubMed Links)
Domains and Motifs:
  • HLH: helix loop helix domain
  • LZ: Leucine Zipper
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K09105
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Transcription factor for immunoglobulin heavy chain enhancer 3; Transcription factor binding to IGHM enhancer 3; TFE3/ASPSCR1 fusion gene; TFE3/PRCC fusion gene; TFE3/SFPQ fusion gene; Transcription factor for IgH enhancer
    Approved Symbol:
    TFE3
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 12
    Human (de-) phosphorylation sites: 12; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

    None Available
    		Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02439 Entrez Gene ID: 7030 OMIM ID: 314310 Swissprot Accession: P19532;