ETV1 Gene Summary [Human]
This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Ewing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2016]
Details
| Type | Protein Coding |
| Official Symbol | ETV1 |
| Official Name | ETS variant transcription factor 1 [Source:HGNC Symbol;Acc:HGNC:3490] |
| Ensembl ID | ENSG00000006468 |
| Bio databases IDs | |
| Aliases | ETS variant transcription factor 1 |
| Synonyms | ER81, Etsrp81, ets variant 1, ETS variant transcription factor 1, LOC221810 |
| 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 ETV1 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
- activation domain
- transcription regulator
- DNA binding domain
- nucleic acid binding
- negative regulatory domain
- protein binding
- sequence-specific DNA binding
- phosphorylation site
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- Ets-domain
- PEA3 subfamily ETS-domain transcription factor N terminal domain
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- liver cancer
- epithelial cancer
- metastasis
- prostate cancer
- endometriosis
- organismal death
- benign prostatic hyperplasia
- neoplastic cell transformation
- metastatic melanoma
role in cell
- growth
- migration
- expression in
- production in
- proliferation
- invasion by
- activation in
- invasion
- development
- guidance
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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ETV1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mechanosensory behavior
- muscle organ development
- cell differentiation
- transcription from RNA polymerase II promoter
- axon guidance
- positive regulation of transcription from RNA polymerase II promoter
- peripheral nervous system neuron development
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
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
- 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