TFE3 Antibody – Mouse Monoclonal

The microphthalmia transcription factor/transcription factor E (MITF-TFE) family of basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factors includes four family members: MITF, TFE3, TFEB and TFEC. The TEF3 protein encoded by this gene activates transcription through binding to the muE3 motif of the immunoglobulin heavy-chain enhancer. The TFEC protein forms heterodimers with the TEF3 protein and inhibits TFE3-dependent transcription activation. The TEF3 protein interacts with transcription regulators such as E2F3, SMAD3, and LEF-1, and is involved in TGF-beta-induced transcription, playing important roles in cell growth, proliferation, and osteoclast and macrophage differentiation. The TFE3 protein also activates hepatic IRS-2 gene, and induces hexokinase II (HK2) and insulin-induced gene 1 (INSIG1); it participates in insulin signaling and could be a therapeutic target for diabetes. This gene is also involved in chromosomal translocations, resulting in different fusion gene products in papillary renal cell carcinomas and alveolar soft part sarcomas, such as PRCC-TFE3, RCC17-TFE3, PSF-TFE3, NonO (p54nrb)-TFE3 and ASPL-TFE3.[provided by RefSeq, Dec 2009]

TFE3: Transcription factor that specifically recognizes and binds E-box sequences (5'-CANNTG-3'). Efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFEB or MITF. 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. Specifically recognizes the MUE3 box, a subset of E-boxes, present in the immunoglobulin enhancer. It also binds very well to a USF/MLTF site. A chromosomal aberration involving TFE3 is found in patients with alveolar soft part sarcoma. Translocation t(X;17)(p11;q25) with ASPSCR1 forms a ASPSCR1-TFE3 fusion protein. Chromosomal aberrations involving TFE3 are found in patients with papillary renal cell carcinoma. 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. Belongs to the MiT/TFE family.

Protein type: Oncoprotein; Transcription factor; DNA-binding

Chromosomal Location of Human Ortholog: Xp11.22

Cellular Component: nucleoplasm; cytoplasm; nucleus

Molecular Function: protein dimerization activity; transcription factor activity

Biological Process: regulation of osteoclast differentiation; positive regulation of cell adhesion; transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; humoral immune response

Disease: Renal Cell Carcinoma, Xp11-associated