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ESR1 - estrogen receptor 1

Entrez Gene Name: estrogen receptor 1
Synonyms: AA420328, Alpha estrogen receptor, AU041214, DKFZp686N23123, ER, ER ALPHA, Er alpha (46 kDa isoform), ER-α, ER66, ER a , ERA, ESR, ESR1, ESRA, ESTR, ESTRA, ESTROGEN RECEPTOR ALPHA, ESTROGEN RECEPTOR1, NR3A1, RNESTROR, TERP-1

Gene Summary

  • Human (2099): This gene encodes an estrogen receptor, a ligand-activated transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. The protein localizes to the nucleus where it may form a homodimer or a heterodimer with estrogen receptor 2. Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues such as bone. Estrogen receptors are also involved in pathological processes including breast cancer, endometrial cancer, and osteoporosis. Alternative splicing results in several transcript variants, which differ in their 5' UTRs and use different promoters. [provided by RefSeq]
  • Rat (24890): acts as a transcriptional activator when bound to estrogen; may play a role in myocardial regulation [RGD]

Cell Regulation

Regulates:
  • ESR1
  • PGR
  • TFF1
View all 544 in IPA
Regulated by:
  • beta-estradiol
  • ESR1
  • 4-hydroxytamoxifen
View all 548 in IPA
Binds:
  • NCOA1
  • beta-estradiol
  • NCOA2
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Role in cell:
  • proliferation
  • apoptosis
  • growth
View all 65 in IPA
Disease:
  • breast cancer
  • endometriosis
  • Alzheimer's disease
View all 113 in IPA

Biological Process

androgen metabolic process, antral ovarian follicle growth, cell growth, cellular response to estrogen stimulus, epithelial cell development, epithelial cell proliferation involved in mammary gland duct elongation, estrogen receptor signaling pathway, gene expression, male gonad development, mammary gland alveolus development, mammary gland branching involved in pregnancy, negative regulation of mitosis, neuroprotection, osteoblast development, positive regulation of epidermal growth factor receptor signaling pathway, positive regulation of ERK1 and ERK2 cascade, positive regulation of fibroblast proliferation, positive regulation of retinoic acid receptor signaling pathway, positive regulation of survival gene product expression, positive regulation of transcription from RNA polymerase II promoter, prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis, prostate epithelial cord elongation, regulation of apoptosis, regulation of branching involved in prostate gland morphogenesis, regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor, regulation of transcription, DNA-dependent, response to estradiol stimulus, response to estrogen stimulus, Sertoli cell proliferation, signal transduction, steroid hormone mediated signaling pathway, steroid hormone receptor signaling pathway, transcription, DNA-dependent, uterus development, vagina development

Cellular Components

chromatin remodeling complex, cytoplasm, membrane, mitochondrial part, neuron projection, nucleoplasm, nucleus, perikaryon, perinuclear region of cytoplasm, plasma membrane, protein complex, T-tubule, terminal button

Literature References

  • 18998771Andersen KG, Butcher T, Betz AG. Specific Immunosuppression with Inducible Foxp3-Transduced Polyclonal T cells.PLoS Biol 2008 Nov 11;6(11):e276
  • 15538384Tateishi Y, Kawabe Y, Chiba T, Murata S, Ichikawa K, Murayama A, Tanaka K, Baba T, Kato S, Yanagisawa J. Ligand-dependent switching of ubiquitin-proteasome pathways for estrogen receptor.EMBO J 2004 Dec 08;23(24):4813-23
  • 15342491Aiyar SE, Sun JL, Blair AL, Moskaluk CA, Lu YZ, Ye QN, Yamaguchi Y, Mukherjee A, Ren DM, Handa H, Li R. Attenuation of estrogen receptor alpha-mediated transcription through estrogen-stimulated recruitment of a negative elongation factor.Genes Dev 2004 Sep 01;18(17):2134-46
View 12732 categorized literature findings and their references in IPA

Molecular Functions

beta-catenin binding, chromatin binding, DNA binding, enzyme binding, estrogen receptor activity, estrogen response element binding, hormone binding, ligand-dependent nuclear receptor activity, lipid binding, metal ion binding, nitric-oxide synthase regulator activity, protein binding, protein complex binding, receptor activity, sequence-specific DNA binding, sequence-specific DNA binding transcription factor activity, steroid binding, steroid hormone receptor activity, transcription factor binding, type 1 metabotropic glutamate receptor binding, zinc ion binding

Protein Domains

A domain, a/b hammerhead domain, A/B region, activation domain, AF-1 domain, AF-2 transcription activation domain, alpha helix, beta-catenin binding, C-terminal extension, calmodulin binding domain, chromatin binding, Coactivator binding pocket, dimerization domain, DNA binding, DNA binding domain, DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers, enzyme binding, Erk1/2 phosphorylation site, estrogen binding domain, estrogen receptor, estrogen receptor A domain, estrogen receptor A/B domain, estrogen receptor alpha D domain, estrogen receptor alpha E/F domain, estrogen receptor B domain, estrogen receptor C domain, F domain, fxfp sequence, hinge domain, Hinge/AF-2a domain, hormone binding, hormone binding domain, ligand-binding domain, ligand-dependent nuclear receptor, LXXLL motif, nuclear export signal, nuclear localization sequence, nuclear receptor ligand binding domain, Oestrogen receptor, Oestrogen-type nuclear receptor final C-terminal, palmitoylation site, phosphorylation site, protein binding, protein complex binding, steroid binding, steroid hormone receptor, striatin binding domain, transcription activation domain, transcription factor binding, tyrosine phosphorylation site, zinc finger DNA binding domain, zinc finger domain

Subcellular Locations

axon terminals, caveolae, caveolar membranes, cell surface, cellular membrane, chromatin fraction, Cytoplasm, cytoplasmic fraction, cytosol, cytosolic fraction, dendrites, dendritic spines, granules, membrane fraction, microsomal membrane, mitochondria, mitochondrial fraction, neurites, nuclear foci, nuclear fraction, nuclear matrix, nuclear matrix fraction, nucleoli, nucleoplasm, nucleoplasmic fraction, Nucleus, perikaryon, perinuclear region, Plasma Membrane, plasma membrane fraction, presynaptic terminals, soluble fraction, synaptic vesicles, transverse tubules, vesicles