TFE3 Gene Summary [Human]
This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta) signaling. This gene may be involved in chromosomal translocations in renal cell carcinomas and other cancers, resulting in the production of fusion proteins. Translocation partners include PRCC (papillary renal cell carcinoma), NONO (non-POU domain containing, octamer-binding), and ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1), among other genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | TFE3 |
| Official Name | transcription factor binding to IGHM enhancer 3 [Source:HGNC Symbol;Acc:HGNC:11752] |
| Ensembl ID | ENSG00000068323 |
| Bio databases IDs | |
| Aliases | transcription factor binding to IGHM enhancer 3 |
| Synonyms | bHLHe33, F830016E06Rik, MRXSPF, mTFE3, RCCP2, RCCX1, RGD1559642, TCFE3, TFEA, transcription factor binding to IGHM enhancer 3, transcription factor E3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TFE3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- dimerization domain
- nucleic acid binding
- basic Helix Loop Helix (bHLH) domain superfamily
- protein binding
- sequence-specific DNA binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- basic helix-loop-helix-leucine zipper domain
- double-stranded DNA binding
- helix loop helix domain
- MITF/TFEB/TFEC/TFE3 N-terminus
- Domain of unknown function (DUF3371)
- Helix-loop-helix DNA-binding domain
- basic domain
- transcription factor activity
- protein heterodimerization
Pathways
Biological processes and signaling networks where the TFE3 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- neoplasia
- epithelial neoplasia
- epithelial cancer
- X-linked syndromic intellectual developmental disorder with pigmentary mosaicism and coarse facies
- hereditary disorder
- papillary type II renal carcinoma
- non-clear cell renal cell cancer
- papillary renal cell neoplasia
- hereditary cancer
role in cell
- growth
- phosphorylation in
- expression in
- adhesion
- number
- organization
- autophagy in
- accumulation in
- proliferation
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- endosomes
- cytosol
- lysosome membrane
- nucleoplasm
- perinuclear space
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TFE3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lysosome organization
- positive regulation of brown fat cell differentiation
- positive regulation of transcription, DNA-dependent
- regulation of osteoclast differentiation
- humoral immune response
- adaptive immune response
- positive regulation of cell adhesion
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
- chromatin
- lysosomal membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- protein dimerization activity
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity