background:
The DNA-binding factor TFE3 contains adjacent helix-loop-helix (HLH) and leucine zipper (LZ) domains flanked by an upstream basic region. These protein motifs are frequently observed in other transcription factors and are particularly common to members of the Myc family. TFE3 is ubiquitously expressed and can directly associates with DNA as either homodimers or heterodimers formed with two related proteins, TFEB or TFEC. TFE3 binds to and activates the microE3 motif of the immunoglobulin heavy-chain enhancer to induce B-cell-specific gene transcription and DNA recombination. TFEB binds to the major late promoter of adenovirus and specifically associates with DNA as both a homodimer and a heterodimer with TFE3. TFEB is expressed at low levels in the embryo but at high levels in the trophoblast cells of the placenta, where it plays a critical role in regulating normal vascularization of the placenta. TFEC shares a bHLH/LZ structure with TFE3 and a closely related protein microphthalmia-associated transcription factor (MITF), which is critically involved in melanocyte differentiation. Unlike TFE3, the expression of TFEC is largely restricted to fibroblasts, myoblasts, chondrosarcoma cells, and myeloma cells.
Function:
Transcription factor that specifically recognizes and binds E-box sequences (3'-CANNTG-5'). 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.
Subunit:
Homodimer and heterodimer; with TFEB or MITF.
Subcellular Location:
Nucleus.
Tissue Specificity:
Ubiquitous in fetal and adult tissues.
Post-translational modifications:
Sumoylated; does not affect dimerization with MITF.
[DISEASE] Note=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.
DISEASE:
Note=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.
Note=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.
Similarity:
Belongs to the MiT/TFE family.
Contains 1 basic helix-loop-helix (bHLH) domain.
Database links:
Entrez Gene: 7030 Human
Entrez Gene: 209446 Mouse
Entrez Gene: 317376 Rat
Omim: 314310 Human
SwissProt: Q05B92 Cow
SwissProt: P19532 Human
SwissProt: Q12892 Mouse
Unigene: 249142 Mouse
Unigene: 9231 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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