E2F1: Master Regulator of Cell Cycle and Apoptosis
A transcription factor at the crossroads of proliferation and cell death, implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | E2F1 |
|---|---|
| Full Name | E2F transcription factor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 1869 ncbi.nlm.nih.gov/gene/1869 |
| Ensembl ID | ENSG00000101412 |
| UniProt ID | Q01094 |
| OMIM ID | 189971 |
| HGNC ID | 3113 |
| Aliases | RBP3, RBAP1, E2F-1 |
Description
E2F1 is a member of the E2F family of transcription factors that play a crucial role in the control of cell cycle progression and tumor suppressor pathways. It is a downstream target of the retinoblastoma protein (pRB) and regulates the expression of genes required for DNA synthesis and cell cycle progression. E2F1 also has a dual role as an oncogene and tumor suppressor, depending on cellular context, and is involved in apoptosis, DNA damage response, and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression or dysregulation of E2F1 can lead to uncontrolled cell proliferation and tumorigenesis. It can also induce apoptosis in certain contexts, acting as a tumor suppressor. | High expression in multiple cancers; somatic mutations and copy number alterations observed in COSMIC. |
| Retinoblastoma | Loss of RB1 function leads to deregulated E2F1 activity, promoting tumor development. | RB1 mutations are hallmark; E2F1 is a key downstream effector. |
| Proliferative vitreoretinopathy | E2F1-mediated cell cycle activation contributes to retinal pigment epithelial cell proliferation. | Experimental models show E2F1 involvement. |
| Developmental disorders | E2F1 mutations may contribute to neurodevelopmental phenotypes, though rare. | Case reports and functional studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | High | High expression in hematopoietic tissues. |
| Lymph node | High | High expression in lymphoid tissues. |
| Spleen | High | High expression in splenic tissue. |
| Thymus | High | High expression in thymic tissue. |
| Testis | High | High expression in germ cells. |
| Other tissues | Variable | Expression varies with proliferative status. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High | Cervical carcinoma cell line; high proliferative index. |
| K562 | High | Chronic myeloid leukemia cell line. |
| MCF7 | Moderate | Breast cancer cell line; expression dependent on growth conditions. |
| HepG2 | Moderate | Liver cancer cell line. |
| A549 | Moderate | Lung carcinoma cell line. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.250G>A (p.Ala84Thr) | Missense | Rare | Potential loss of function; observed in cancer. |
| c.497C>T (p.Pro166Leu) | Missense | Rare | Uncertain significance; may affect DNA binding. |
| Amplification | Copy number gain | Frequent in cancers | Increased E2F1 expression, promoting proliferation. |
| Deletion | Copy number loss | Rare | Loss of tumor suppressor function in some contexts. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in E2F1 are rare but may impair its pro-apoptotic or tumor suppressor functions, potentially contributing to cancer progression.
Gain of Function (GOF)
Gain-of-function alterations, such as gene amplification or overexpression, enhance E2F1's proliferative activity, acting as an oncogene.
Dominant Negative (DN)
Dominant-negative mutations could interfere with E2F1's ability to regulate target genes, but such variants are not well characterized.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • protein binding | • chromatin binding |
| • transcription coregulator activity | • cell cycle |
| • apoptotic process | • DNA damage response |
| • regulation of cell population proliferation | • G1/S transition of mitotic cell cycle |
Pathways
• Cell Cycle
• G1/S Checkpoint
• pRB-E2F signaling
• Apoptosis
• p53 signaling
• DNA damage response
Protein Summary
E2F1 is a 437-amino acid transcription factor with a conserved DNA-binding domain and a transactivation domain. It forms heterodimers with DP proteins (e.g., TFDP1) to bind E2F recognition sites in the promoters of target genes. Its activity is regulated by pRB binding, which represses transcriptional activation. Post-translational modifications, including phosphorylation and acetylation, modulate its stability and function. E2F1 can induce both cell proliferation and apoptosis, with the latter being mediated through p53-dependent and -independent pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| E2F1 Knockout HEK293 Cell Line | EDJ-KQ1137 | Human | 1869 | Details Get a Quote |
| E2F1 Knockout A-549 Cell Line | EDJ-KQ20351 | Human | 1869 | Details Get a Quote |
| E2F1 Knockout HCT 116 Cell Line | EDJ-KQ20352 | Human | 1869 | Details Get a Quote |
| E2F1 Knockout HeLa Cell Line | EDJ-KQ20353 | Human | 1869 | Details Get a Quote |
| E2F1 Knockout PC-3 Cell Line | EDJ-KZ203 | Human | 1869 | Details Get a Quote |
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