Version: 8.0.0Date: Tue Jan 28 2025
Gene
E2F1
- Species
- Homo sapiens
- Symbol
- E2F1
- Name
- E2F transcription factor 1
- Synonyms
- E2F-1
- PBR3
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including DNA-binding transcription activator activity; DNA-binding transcription factor activity, RNA polymerase II-specific; and cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including intracellular signal transduction; positive regulation of fibroblast proliferation; and regulation of RNA metabolic process. Located in centrosome; chromatin; and nucleoplasm. Part of Rb-E2F complex. Is active in nucleus. Implicated in lung carcinoma (multiple); osteosarcoma; and pancreatic adenocarcinoma (multiple). Biomarker of several diseases, including high grade glioma (multiple); lung carcinoma (multiple); neurodegenerative disease (multiple); pancreatic ductal adenocarcinoma; and viral encephalitis.
- RGD Description
- The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F2 and E2F3, have an additional cyclin binding domain. This protein binds preferentially to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both cell proliferation and p53-dependent/independent apoptosis. [provided by RefSeq, Jul 2008]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR12081
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr20:33675477...33686385 - (10.91 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.