Gene Information
Gene Symbol
Entrez Gene ID
Gene Name
Estrogen receptor 1
Chromosomal Location
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 promoter usage and alternative splicing result in dozens of transcript variants, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Mar 2014]
RefSeq DNA
RefSeq mRNA

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0000122 Biological process Negative regulation of transcription by RNA polymerase II IMP 20388878
GO:0006338 Biological process Chromatin remodeling NAS 12351687
GO:0006351 Biological process Transcription, DNA-templated TAS 2040605
GO:0006355 Biological process Regulation of transcription, DNA-templated NAS 3753802
GO:0006366 Biological process Transcription by RNA polymerase II IDA 15831516
Protein Information
Protein Name
Estrogen receptor, E2 receptor alpha, ER-alpha, estradiol receptor, estrogen nuclear receptor alpha, estrogen receptor alpha E1-E2-1-2, estrogen receptor alpha E1-N2-E2-1-2, nuclear receptor subfamily 3 group A member 1, oestrogen receptor alpha
Nuclear hormone receptor. The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Ligand-dependent nuclear transactivation involves either direct homodimer binding to a palindromic estrogen response element (ERE) sequence or association with other DNA-binding transcription factors, such as AP-1/c-Jun, c-Fos, ATF-2, Sp1 and Sp3, to mediate ERE-independent signaling. Ligand binding induces a conformational change allowing subsequent or combinatorial association with multiprotein coactivator complexes through LXXLL motifs of their respective components. Mutual transrepression occurs between the estrogen receptor (ER) and NF-kappa-B in a cell-type specific manner. Decreases NF-kappa-B DNA-binding activity and inhibits NF-kappa-B-mediated transcription from the IL6 promoter and displace RELA/p65 and associated coregulators from the promoter. Recruited to the NF-kappa-B response element of the CCL2 and IL8 promoters and can displace CREBBP. Present with NF-kappa-B components RELA/p65 and NFKB1/p50 on ERE sequences. Can also act synergistically with NF-kappa-B to activate transcription involving respective recruitment adjacent response elements; the function involves CREBBP. Can activate the transcriptional activity of TFF1. Also mediates membrane-initiated estrogen signaling involving various kinase cascades. Isoform 3 is involved in activation of NOS3 and endothelial nitric oxide production. Isoforms lacking one or several functional domains are thought to modulate transcriptional activity by competitive ligand or DNA binding and/or heterodimerization with the full-length receptor. Essential for MTA1-mediated transcriptional regulation of BRCA1 and BCAS3. Isoform 3 can bind to ERE and inhibit isoform 1.
Refseq Proteins
Pfam Accession Pfam ID
PF12743 ESR1_C
PF00104 Hormone_recep
PF02159 Oest_recep
PF00105 zf-C4

Endocrine resistance
Estrogen signaling pathway
Prolactin signaling pathway
Thyroid hormone signaling pathway
Endocrine and other factor-regulated calcium reabsorption
Pathways in cancer
Proteoglycans in cancer
Breast cancer


Nuclear signaling by ERBB4
PIP3 activates AKT signaling
Constitutive Signaling by Aberrant PI3K in Cancer
Nuclear Receptor transcription pathway
SUMOylation of intracellular receptors
Ovarian tumor domain proteases
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
RUNX1 regulates estrogen receptor mediated transcription
ESR-mediated signaling
RUNX1 regulates transcription of genes involved in WNT signaling
Regulation of RUNX2 expression and activity
Extra-nuclear estrogen signaling
Estrogen-dependent gene expression

ENSP00000373487 P05783 P05783
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Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Myocardial Infarction
Ear Or Mastoid Diseases
Meniere Disease
Endocrine System Diseases
Estrogen Resistance
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
The endometrial histopathological changes and local decrease or absence of ER and PR in PCOS might be one of the causal factors of infertility. 
Abnormal follicular development 
The results of this study demonstrate that there are significant alterations in the expression of ERalpha and ERbeta in PCOS that may be related to abnormal follicular development. 
Er and PR 
Spontaneous abortion 
The decrease of ER and PR of endometrial in the PCOS patients, may be a reason for spontaneous abortion, and the cyclical irregularity of ER and PR in the PCOS patients is another cause of spontaneous abortion. 
Androgen receptor (AR), estrogen receptor beta (ERbeta), co-activators AIB1 and ARA70 
Endometrial hyperplasia 
The PCOS endometrium exhibits a higher sensitivity to steroid action. We can inferred that these alterations could deregulate the transcription of genes involved in the cell cycle, which may lead to the development of endometrial hyperplasia in PCOS women. 
ER and the novel G protein-coupled ER (GPR30) 
Chinese- 15 PCOS and 15 controls 
The study proposes that restored receptor expression might improve endometrial receptivity and help lower infertility associated with PCOS. 

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