ESR1 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | ESR1 |
| Official Name | estrogen receptor 1 [Source:HGNC Symbol;Acc:HGNC:3467] |
| Ensembl ID | ENSG00000091831 |
| Bio databases IDs | |
| Aliases | estrogen receptor 1, nuclear receptor subfamily 3 group A member 1, estrogen receptor alpha, oestrogen receptor alpha, E2 receptor alpha |
| Synonyms | Alpha estrogen receptor, ER, ERa, ER-alpha, Er alpha (46 kDa isoform), ER-α, Er α (46 kDa isoform), ESR, ESRA, Estr, Estra, estrogen receptor, estrogen receptor 1, estrogen receptor 1 (alpha), estrogen receptor 1 (α), Estrogen receptor α, ESTRR, NR3A1, RNESTROR, TERP-1, α estrogen receptor |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ESR1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- zinc finger DNA binding domain
- estrogen receptor alpha D domain
- steroid hormone receptor
- A/B region
- Coactivator binding pocket
- transcription factor binding
- identical protein binding
- fxfp sequence
- TATA-binding protein binding
- hormone binding domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- nuclear receptor ligand binding domain
- ligand-dependent nuclear receptor
- Oestrogen-type nuclear receptor final C-terminal
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- hormone binding
- activation domain
- palmitoylation site
- protein kinase binding
- nuclear export signal
- estrogen receptor C domain
- DNA binding domain
- calmodulin binding
- beta-catenin binding
- nucleic acid binding
- calmodulin binding domain
- estrogen receptor A domain
- protein binding
- sequence-specific DNA binding
- Erk1/2 phosphorylation site
- estrogen receptor alpha E/F domain
- striatin binding domain
- hinge domain
- tyrosine phosphorylation site
- LXXLL motif
- transcription regulator
- DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
- G-protein-coupled receptor binding
- transcription activation domain
- AF-2 transcription activation domain
- chromatin binding
- estrogen receptor binding
- F domain
- estrogen binding domain
- AF-1 domain
- ligand-binding domain
- estrogen receptor
- Hinge/AF-2a domain
- A domain
- dimerization domain
- estrogen receptor A/B domain
- BRCA1-binding domain
- alpha helix
- nuclear localization sequence
- enzyme binding
- Oestrogen receptor
- receptor binding
- DNA binding
- steroid binding
- phosphorylation site
- a/b hammerhead domain
- ATPase binding
- phosphoinositide 3-kinase binding
- binding protein
- double-stranded DNA binding
- zinc finger domain
- PXXP motif
- estrogen receptor B domain
- Ligand-binding domain of nuclear hormone receptor
- C-terminal extension
Pathways
Biological processes and signaling networks where the ESR1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- infection
- schizophrenia
- bipolar I disorder
- schizophreniform psychosis
- pain
- osteoarthritis
- metastatic breast cancer
- major depression
- diabetes mellitus
- depressive disorder
role in cell
- phosphorylation in
- activation in
- cell viability
- expression in
- induction in
- degradation in
- quantity
- apoptosis
- proliferation
- upregulation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- plasma membrane fraction
- nuclear fraction
- nucleoplasmic fraction
- soluble fraction
- chromatin fraction
- nuclear matrix fraction
- membrane fraction
- mitochondrial fraction
- Cytoplasm
- presynaptic regions
- cell surface
- perinuclear region
- postsynaptic region
- cellular membrane
- filamentous network
- actin cytoskeleton
- Plasma Membrane
- vesicles
- Mitochondria
- microtubules
- granules
- cytosol
- caveolar membranes
- caveolae
- mitochondrial membrane
- nuclear foci
- nucleoplasm
- nucleoli
- nuclear speckles
- nuclear matrix
- dendritic spines
- dendritic spine head
- synaptic vesicles
- dense-core vesicles
- endolysosomes
- transverse tubules
- microsomal membrane
- membrane rafts
- chromatin
- perikaryon
- axons
- dendrites
- axon terminals
- presynaptic terminals
- cytoplasmic fraction
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ESR1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of smooth muscle cell apoptotic process
- vagina development
- response to estrogen stimulus
- male gonad development
- uterus development
- mammary gland branching involved in pregnancy
- epithelial cell development
- prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis
- negative regulation of I-kappaB kinase/NF-kappaB cascade
- positive regulation of sequence-specific DNA binding transcription factor activity
- positive regulation of transcription from RNA polymerase II promoter
- regulation of branching involved in prostate gland morphogenesis
- prostate epithelial cord elongation
- fibroblast proliferation
- negative regulation of transcription from RNA polymerase II promoter
- RNA polymerase II transcriptional preinitiation complex assembly
- cellular response to estradiol stimulus
- chromatin remodeling
- stem cell differentiation
- mammary gland alveolus development
- positive regulation of transcription, DNA-dependent
- antral ovarian follicle growth
- positive regulation of fibroblast proliferation
- intracellular estrogen receptor signaling pathway
- epithelial cell proliferation involved in mammary gland duct elongation
- signal transduction
- regulation of toll-like receptor signaling pathway
- regulation of transcription, DNA-dependent
- negative regulation of sequence-specific DNA binding transcription factor activity
- phospholipase C-activating G-protein coupled receptor signaling pathway
- cellular response to estrogen stimulus
- elevation of cytosolic calcium ion concentration
- regulation of transcription from RNA polymerase II promoter
- negative regulation of gene expression
- androgen metabolic process
- intracellular steroid hormone receptor signaling pathway
- protein localization to chromatin
- response to estradiol stimulus
- regulation of inflammatory response
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- euchromatin
- cytoplasm
- membrane
- cytosol
- macromolecular complex
- Golgi apparatus
- chromatin
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- estrogen response element binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- steroid binding
- transcription coactivator binding
- sequence-specific DNA binding transcription factor activity
- ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity
- TFIIB-class transcription factor binding
- TBP-class protein binding
- protein kinase binding
- zinc ion binding
- identical protein binding
- estrogen receptor activity
- chromatin binding
- beta-catenin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- transcription corepressor binding
- transcription cofactor binding
- calmodulin binding
- protein binding
- estrogen receptor binding
- nitric-oxide synthase regulator activity
- 14-3-3 protein binding
- enzyme binding
- ATPase binding