TFEB Gene Summary [Human]
Enables DNA-binding transcription factor activity; enzyme binding activity; and transcription cis-regulatory region binding activity. Involved in several processes, including cellular response to amino acid starvation; lysosome localization; and positive regulation of autophagy. Located in cytosol; lysosomal membrane; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | TFEB |
| Official Name | transcription factor EB [Source:HGNC Symbol;Acc:HGNC:11753] |
| Ensembl ID | ENSG00000112561 |
| Bio databases IDs | |
| Aliases | transcription factor EB |
| Synonyms | ALPHATFEB, BHLHE35, TCFEB, transcription factor EB |
| 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 TFEB often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- nucleic acid binding
- basic Helix Loop Helix (bHLH) domain superfamily
- enzyme binding
- 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
- transcription factor activity
- protein heterodimerization
Pathways
Biological processes and signaling networks where the TFEB 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
- colorectal cancer
- heart disease
- impaired glucose tolerance
- neoplasia
- Duchenne muscular dystrophy
- non-insulin-dependent diabetes mellitus
- Crohn disease
- renal cell carcinoma
- renal cell cancer
- MiT family translocation positive renal cell carcinoma
role in cell
- expression in
- binding in
- differentiation
- apoptosis
- response
- number
- quantity
- downregulation in
- synthesis in
- upregulation in
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
- Cytoplasm
- lysosome
- cytosol
- lysosome membrane
- nucleoplasm
- chromatin
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TFEB gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lysosome organization
- cellular response to amino acid starvation
- adaptive immune response
- regulation of transcription, DNA-dependent
- cellular response to starvation
- positive regulation of transcription from RNA polymerase II promoter
- embryonic placenta development
- regulation of transcription from RNA polymerase II promoter
- lysosome localization
- positive regulation of autophagy
- positive regulation of transcription, DNA-dependent
- autophagy
- humoral immune response
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
- chromatin
- lysosomal membrane
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
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- enzyme binding