InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TFE3

Summary

InnateDB Protein

IDBP-65191.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TFE3

Protein Name

transcription factor binding to IGHM enhancer 3

Synonyms

bHLHe33; RCCP2; RCCX1; TFEA;

Species

Homo sapiens

Ensembl Protein

ENSP00000314129

InnateDB Gene

IDBG-65189 (TFE3)

Protein Structure

UniProt Annotation

Function

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.

Subcellular Localization

Nucleus.

Disease Associations

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.

Tissue Specificity

Ubiquitous in fetal and adult tissues.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	23 [view]
Protein-Protein	22 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0044212	transcription regulatory region DNA binding
GO:0046983	protein dimerization activity

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006959	humoral immune response
GO:0045670	regulation of osteoclast differentiation
GO:0045785	positive regulation of cell adhesion
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter