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transcription factor E3 (TFE3)
Function:
- positive-acting transcription factor
- binds to immunoglobulin enchancer MUE3 motif
- also binds very well to a USF/MLTF site
- binding of TFE3 to DNA induces DNA binding efficient DNA binding requires dimerization with another bHLH protein
Structure:
- belongs to the MiT/TFE family
- contains 1 basic helix-loop-helix (bHLH) domain
Compartment: nucleus
Expression: ubiquitous in fetal & adult tissues
Pathology:
- chromosomal translocation t(X;17)(p11;q25) involving TFE3 with ASPSCR1 forms a ASPSCR1-TFE3 fusion protein, associated with alveolar soft part sarcoma
- chromosomal translocation t(X;1)(p11.2;q21.2) involving TFE3 with PRCC may be a cause of papillary renal cell carcinoma
- translocation t(X;1)(p11.2;p34) with PSF
- inversion inv(X)(p11.2;q12) that fuses NONO to TFE3
General
basic helix loop helix (bHLH) family transcription factor
phosphoprotein
Properties
SIZE: entity length = 575 aa
MW = 62 kD
COMPARTMENT: cell nucleus
MOTIF: Breakpoint {178-179}
transcriptional activation domain
SITE: 260-271
MOTIF: Breakpoint {260-261}
Breakpoint {295-296}
DNA-binding motif
SITE: 344-359
helix-loop-helix
NAME: helix-loop-helix
SITE: 360-400
FOR-BINDING-VIA: helix-loop-helix
leucine zipper
SITE: 409-430
FOR-BINDING-VIA: leucine zipper
Ser phosphorylation site {S568}
Database Correlations
OMIM correlations
UniProt P19532
Pfam PF00010
Kegg hsa:7030
References
- UniProt :accession P19532
- Atlas of genetics & cytogenetics in oncology & haematology
http://atlasgeneticsoncology.org/genes/TFE3ID86.html