Alternative titles; symbols
HGNC Approved Gene Symbol: TFEC
Cytogenetic location: 7q31.2 Genomic coordinates (GRCh38) : 7:115,935,152-116,159,896 (from NCBI)
Zhao et al. (1993) identified in rat a transcriptional repressor with a basic helix-loop-helix and leucine zipper (bHLH/LZ) structure closely related to that in human microphthalmia-associated transcription factor (MITF; 156845) and TFE3 (314310). By screening a THP-1 human monocytic leukemia cell line with an MITF cDNA fragment coding for the bHLH/LZ region, Yasumoto and Shibahara (1997) cloned a TFEC cDNA, which they symbolized TFECL. The TFEC cDNA encodes a deduced 347-amino acid protein with a bHLH/LZ region that binds a CANNTG motif, known as an E box, and shares high homology to rat TFEC, mouse Tfe3, and MITF. Human TFEC contains an acidic domain that corresponds to a transcriptional activation domain of TFE3, but its equivalent region is deleted in rat TFEC.
By transient coexpression assays, Yasumoto and Shibahara (1997) showed that human TFEC can either activate or inhibit promoters of melanocyte-specific tyrosinase and the ubiquitously expressed heme oxygenase-1 gene (141250), depending on cell type.
Gross (2014) mapped the TFEC gene to chromosome 7q31.2 based on an alignment of the TFEC sequence (GenBank BC029891) with the genomic sequence (GRCh37).
Gross, M. B. Personal Communication. Baltimore, Md. 7/17/2014.
Yasumoto, K., Shibahara, S. Molecular cloning of cDNA encoding a human TFEC isoform, a newly identified transcriptional regulator. Biochim. Biophys. Acta 1353: 23-31, 1997. [PubMed: 9256061] [Full Text: https://doi.org/10.1016/s0167-4781(97)00034-1]
Zhao, G.-Q., Zhao, Q., Zhou, X., Mattei, M.-G., de Crombrugghe, B. TFEC, a basic helix-loop-helix protein, forms heterodimers with TFE3 and inhibits TFE3-dependent transcription activation. Molec. Cell Biol. 13: 4505-4512, 1993. [PubMed: 8336698] [Full Text: https://doi.org/10.1128/mcb.13.8.4505-4512.1993]