TFE3
Description
The TFE3 (transcription factor binding to IGHM enhancer 3) is a protein-coding gene located on chromosome X.
Transcription factor E3 is a protein that in humans is encoded by the TFE3 gene.
TFE3 is a transcription factor that plays a critical role in lysosomal biogenesis and immune response. It binds to specific DNA sequences known as E-boxes and CLEAR-boxes, activating the expression of genes involved in lysosome function. TFE3 activity is regulated by the nutrient sensing pathway mTOR, with phosphorylation by mTOR leading to inactivation and dephosphorylation activating the transcription factor. TFE3 is involved in maintaining pluripotency in embryonic and hematopoietic stem cells and also plays a role in inhibiting neuronal differentiation. Additionally, TFE3 promotes browning of adipose tissue and regulates lysosomal positioning in response to nutrient deprivation. In the immune system, TFE3 interacts with TFEB to activate the expression of CD40L in T-cells, contributing to T-cell-dependent antibody responses.
TFE3 is also known as MRXSPF, RCCP2, RCCX1, TFEA, bHLHe33.
Associated Diseases
- Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
- Renal cell carcinoma, xp11-associated
