ETS1 Gene - ETS Proto-Oncogene 1, Transcription Factor
Comprehensive genomic and functional analysis of ETS1, a key transcription factor in development, immunity, and cancer.
Gene Information Card
| Symbol | ETS1 |
|---|---|
| Full Name | ETS Proto-Oncogene 1, Transcription Factor |
| Gene Type | protein-coding |
| Chromosomal Location | 11q24.3 |
| NCBI Gene ID | 2113 ncbi.nlm.nih.gov/gene/2113 |
| Ensembl ID | ENSG00000134982 |
| UniProt ID | P14921 |
| OMIM ID | 164720 |
| HGNC ID | 3488 |
| Aliases | ETS-1, p54, c-ets-1 |
Description
ETS1 is a member of the ETS family of transcription factors, characterized by a conserved ETS DNA-binding domain. It regulates the expression of genes involved in cell proliferation, differentiation, angiogenesis, and immune responses. ETS1 is essential for hematopoiesis, vascular development, and T-cell function. Dysregulation of ETS1 is implicated in various cancers, autoimmune diseases, and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia | Chromosomal rearrangements involving ETS1 lead to fusion proteins with altered transcriptional activity, promoting leukemogenesis. | NCBI Gene, COSMIC |
| Breast Cancer | ETS1 overexpression enhances invasion and metastasis by upregulating matrix metalloproteinases (MMPs). | NCBI Gene, PubMed |
| Rheumatoid Arthritis | ETS1 regulates inflammatory cytokine expression in synovial fibroblasts, contributing to joint destruction. | OMIM, ClinVar |
| Systemic Lupus Erythematosus | ETS1 variants affect immune cell development and autoantibody production. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 45.2 | High |
| Spleen | 38.7 | High |
| Lung | 12.1 | Medium |
| Bone marrow | 10.5 | Medium |
| Brain | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 62.8 | High expression; used in immune studies |
| HEK293 (embryonic kidney) | 8.4 | Moderate expression |
| MCF7 (breast cancer) | 15.6 | Overexpressed in invasive lines |
| K562 (chronic myeloid leukemia) | 22.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.511G>A (p.Gly171Arg) | Missense | <0.1% | Altered DNA-binding affinity; reported in lymphoma |
| c.742C>T (p.Arg248Trp) | Missense | <0.1% | Reduced transcriptional activity; associated with autoimmune risk |
| Chromosomal translocation t(11;19)(q24;p13) | Fusion | Rare | Creates ETS1-FLI1 fusion; drives Ewing sarcoma |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the ETS domain (e.g., p.Arg248Trp) reduce DNA binding and transactivation, impairing target gene expression.
Gain of Function (GOF)
Overexpression or amplification of ETS1 in cancers leads to increased transcription of pro-invasive genes.
Dominant Negative (DN)
Truncated isoforms or certain missense variants can interfere with wild-type ETS1 function by competing for DNA binding.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • regulation of cell population proliferation | • angiogenesis |
| • immune system process | • positive regulation of transcription by RNA polymerase II |
Pathways
• MAPK signaling pathway
• Rap1 signaling pathway
• Transcriptional misregulation in cancer
• Th17 cell differentiation
• VEGF signaling pathway
Protein Summary
ETS1 is a 441-amino-acid transcription factor with a conserved ETS domain that binds to DNA sequences containing the core motif 5'-GGAA-3'. It contains a pointed (PNT) domain involved in protein-protein interactions and autoinhibition. Post-translational modifications include phosphorylation by MAP kinases, which modulates its activity. ETS1 is predominantly nuclear and regulates genes critical for development, immunity, and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ETS1 Knockout HEK293 Cell Line | EDJ-KQ1273 | Human | 2113 | Details Get a Quote |
| ETS1 Knockout A-549 Cell Line | EDJ-KQ20653 | Human | 2113 | Details Get a Quote |
| ETS1 Knockout HCT 116 Cell Line | EDJ-KQ20654 | Human | 2113 | Details Get a Quote |
| ETS1 Knockout HeLa Cell Line | EDJ-KQ20655 | Human | 2113 | Details Get a Quote |
| ETS1 (p.L381=) Point Mutation in HAP1 Cell Line | EDC03471 | Human | 2113 | Details Get a Quote |
