Aliases for TFE3 Gene
External Ids for TFE3 Gene
Previous GeneCards Identifiers for TFE3 Gene
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]
GeneCards Summary for TFE3 Gene
TFE3 (Transcription Factor Binding To IGHM Enhancer 3) is a Protein Coding gene. Diseases associated with TFE3 include Renal Cell Carcinoma, Xp11-Associated and Alveolar Soft Part Sarcoma. Among its related pathways are TGF-beta Receptor Signaling (WikiPathways) and E2F transcription factor network. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription regulatory region DNA binding. An important paralog of this gene is MITF.
UniProtKB/Swiss-Prot Summary for TFE3 Gene
Transcription factor that specifically recognizes and binds E-box sequences (5'-CANNTG-3') (By similarity). Efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFEB or MITF (By similarity). In association with TFEB, activates the expression of CD40L in T-cells, thereby playing a role in T-cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity (By similarity). Specifically recognizes the MUE3 box, a subset of E-boxes, present in the immunoglobulin enhancer (PubMed:2338243). It also binds very well to a USF/MLTF site (PubMed:2338243). May regulate lysosomal positioning in response to nutrient deprivation by promoting the expression of PIP4P1 (PubMed:29146937).