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

More general terms

• basic helix loop helix (bHLH) family transcription factor
• phosphoprotein

Database

• UniProt: http://www.uniprot.org/uniprot/P19532.html
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:7030
• OMIM: https://mirror.omim.org/entry/314310
• OMIM: https://mirror.omim.org/entry/605074
• OMIM: https://mirror.omim.org/entry/606243