Version: 8.0.0Date: Tue Jan 28 2025
Gene
ESR1
- Species
- Homo sapiens
- Symbol
- ESR1
- Name
- estrogen receptor 1
- Synonyms
- DKFZp686N23123
- E2 receptor alpha
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; general transcription initiation factor binding activity; and transcription coregulator binding activity. Involved in several processes, including RNA polymerase II preinitiation complex assembly; cellular response to estradiol stimulus; and regulation of DNA-templated transcription. Acts upstream of or within positive regulation of transcription by RNA polymerase II. Located in several cellular components, including euchromatin; nucleus; and plasma membrane. Part of transcription regulator complex. Implicated in several diseases, including artery disease (multiple); bone disease (multiple); breast cancer (multiple); type 2 diabetes mellitus; and vitiligo. Biomarker of several diseases, including breast cancer (multiple); lymphangioleiomyomatosis; osteoporosis; pulmonary hypertension; and reproductive organ cancer (multiple).
- RGD Description
- This gene encodes an estrogen receptor and ligand-activated transcription factor. The canonical protein contains an N-terminal ligand-independent transactivation domain, a central DNA binding domain, a hinge domain, and a C-terminal ligand-dependent transactivation domain. The protein localizes to the nucleus where it may form either a homodimer or a heterodimer with estrogen receptor 2. The protein encoded by this gene regulates the transcription of many estrogen-inducible genes that play a role in growth, metabolism, sexual development, gestation, and other reproductive functions and is expressed in many non-reproductive tissues. The receptor encoded by this gene plays a key role in breast cancer, endometrial cancer, and osteoporosis. This gene is reported to have dozens of transcript variants due to the use of alternate promoters and alternative splicing, however, the full-length nature of many of these variants remain uncertain. [provided by RefSeq, Jul 2020]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR48092
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
- Chr6:151656672...152129619 + (472.95 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.