| This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta) signaling. This gene may be involved in chromosomal translocations in renal cell carcinomas and other cancers, resulting in the production of fusion proteins. Translocation partners include PRCC (papillary renal cell carcinoma), NONO (non-POU domain containing, octamer-binding), and ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1), among other genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013],disease:Chromosomal aberrations involving TFE3 are recurrent in alveolar soft part sarcoma (ASPS) [MIM:606243]. Translocation t(X,17)(p11,q25) with ASPSCR1 forms a ASPSCR1-TFE3 fusion protein.,disease:Chromosomal aberrations involving TFE3 are recurrent in alveolar soft part sarcoma (ASPS). Translocation t(X,17)(p11,q25) with ASPSCR1 forms a ASPSCR1-TFE3 fusion protein.,disease:Chromosomal aberrations involving TFE3 may be a cause of papillary renal cell carcinoma (PRCC) [MIM:605074]. 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.,function:Positive-acting transcription factor that binds to the immunoglobulin enchancer MUE3 motif. It also binds very well to a USF/MLTF site. Binding of TFE3 to DNA induces DNA binding.,similarity:Belongs to the MiT/TFE family.,similarity:Contains 1 basic helix-loop-helix (bHLH) domain.,subunit:Efficient DNA binding requires dimerization with another bHLH protein.,tissue specificity:Ubiquitous in fetal and adult tissues., |
