ETV1
ETS translocation variant 1
Also known as: ER81, ETV1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P50549
- Gene
- ETV1
- Ensembl
- ENSG00000006468
- Chromosome
- 7
- Canonical length
- 477 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
477 residues, UniProt reviewed canonical sequence.
>P50549|ETV1
1 MDGFYDQQVP YMVTNSQRGR NCNEKPTNVR KRKFINRDLA HDSEELFQDL SQLQETWLAE
61 AQVPDNDEQF VPDYQAESLA FHGLPLKIKK EPHSPCSEIS SACSQEQPFK FSYGEKCLYN
121 VSAYDQKPQV GMRPSNPPTP SSTPVSPLHH ASPNSTHTPK PDRAFPAHLP PSQSIPDSSY
181 PMDHRFRRQL SEPCNSFPPL PTMPREGRPM YQRQMSEPNI PFPPQGFKQE YHDPVYEHNT
241 MVGSAASQSF PPPLMIKQEP RDFAYDSEVP SCHSIYMRQE GFLAHPSRTE GCMFEKGPRQ
301 FYDDTCVVPE KFDGDIKQEP GMYREGPTYQ RRGSLQLWQF LVALLDDPSN SHFIAWTGRG
361 MEFKLIEPEE VARRWGIQKN RPAMNYDKLS RSLRYYYEKG IMQKVAGERY VYKFVCDPEA
421 LFSMAFPDNQ RPLLKTDMER HINEEDTVPL SHFDESMAYM PEGGCCNPHP YNEGYVYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ETV1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.63
- Highest tissue expression
- 124 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 124 nTPM
- salivary gland: 85 nTPM
- cerebral cortex: 55 nTPM
- heart muscle: 33 nTPM
- lung: 27 nTPM
- adrenal gland: 21 nTPM
Single-cell type
- salivary acinar cells: 300 nCPM
- oligodendrocyte progenitor cells: 260 nCPM
- brain excitatory neurons: 257 nCPM
- corticotrophs: 233 nCPM
- alveolar cells type 2: 219 nCPM
- neuroendocrine cells: 171 nCPM
Immune cell
- T-reg: 0.7 nTPM
- intermediate monocyte: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
Brain region
- cerebellum: 236 nTPM
- thalamus: 74 nTPM
- midbrain: 38 nTPM
- cerebral cortex: 37 nTPM
- amygdala: 35 nTPM
- hippocampal formation: 34 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ETV1.
Disease | AllUniProt
Conditions ETV1 is implicated in, by any mechanism.
- Ewing sarcoma (ES) MIM:612219
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.35
- gnomAD pLI
- 0.94
- gnomAD missense Z
- 0.87
- DepMap mean gene effect
- 0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- axon guidance
- cell differentiation
- mechanosensory behavior
- muscle organ development
- peripheral nervous system neuron development
- positive regulation of transcription by RNA polymerase II
- regulation of transcription by RNA polymerase II
- transcription by RNA polymerase II
Molecular functions
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ETV1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ETV1 as an antibody target. Whether an autoantibody or antibody against ETV1 could matter depends on whether native ETV1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ETV1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ETV1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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