TMC1
| Transcription factor E3 | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | ? | ||||||
| NCBI gene | 7030 | ||||||
| HGNC | 11766 | ||||||
| OMIM | 314310 | ||||||
| RefSeq | NM_006512 | ||||||
| UniProt | P19532 | ||||||
| |||||||
Transcription factor E3 (TFE3) is a protein encoded by the TFE3 gene in humans. TFE3 is a member of the MiT/TFE family of transcription factors, which also includes TFEB, TFEC, and MITF. These transcription factors are involved in the regulation of various cellular processes, including autophagy, lysosome biogenesis, and metabolism.
Structure[edit | edit source]
TFE3 is a basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factor. This structure allows TFE3 to bind DNA and regulate gene expression. The protein contains a basic region that facilitates DNA binding, a helix-loop-helix motif for dimerization, and a leucine zipper that stabilizes the dimer.
Function[edit | edit source]
TFE3 plays a crucial role in the regulation of gene expression in response to various physiological signals. It is involved in the regulation of genes associated with cell growth, proliferation, and differentiation. TFE3 is also implicated in the cellular response to nutrient availability and stress.
TFE3 can translocate to the nucleus in response to certain signals, where it binds to specific DNA sequences to activate or repress target genes. It is known to interact with other transcription factors and co-regulators to modulate its activity.
Clinical Significance[edit | edit source]
Mutations and translocations involving the TFE3 gene have been associated with several types of cancer, including renal cell carcinoma and alveolar soft part sarcoma. In particular, TFE3 gene fusions, such as those with the ASPSCR1 gene, result in the production of chimeric proteins that can drive oncogenesis.
TFE3-related renal cell carcinoma is characterized by the presence of TFE3 gene fusions and is classified as a distinct subtype of renal cell carcinoma. These tumors often occur in younger patients and may have unique histological features.
Research[edit | edit source]
Ongoing research is focused on understanding the precise mechanisms by which TFE3 regulates gene expression and contributes to disease. Studies are also exploring the potential of targeting TFE3 and its pathways for therapeutic purposes, particularly in cancer treatment.
Also see[edit | edit source]
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