ESR1 [The Human Chemical-Genetic Interaction Map Project]

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======= ESR1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ESR1
  * **<color #00a2e8>Official Name</color>**: estrogen receptor 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2099|2099]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P03372|P03372]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ESR1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ESR1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/133430|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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. {ECO:0000269|PubMed:10681512, ECO:0000269|PubMed:10816575, ECO:0000269|PubMed:11477071, ECO:0000269|PubMed:11682626, ECO:0000269|PubMed:14764652, ECO:0000269|PubMed:15078875, ECO:0000269|PubMed:15891768, ECO:0000269|PubMed:16043358, ECO:0000269|PubMed:16617102, ECO:0000269|PubMed:16684779, ECO:0000269|PubMed:17922032, ECO:0000269|PubMed:17932106, ECO:0000269|PubMed:18247370, ECO:0000269|PubMed:19350539, ECO:0000269|PubMed:20074560, ECO:0000269|PubMed:20705611, ECO:0000269|PubMed:21330404, ECO:0000269|PubMed:22083956, ECO:0000269|PubMed:7651415, ECO:0000269|PubMed:9328340}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Hormone recep|
|zf-C4|
|Oest recep|
|ESR1 C|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|TFIIB-class transcription factor binding|
|prostate epithelial cord elongation|
|epithelial cell proliferation involved in mammary gland duct elongation|
|estrogen response element binding|
|prostate gland morphogenetic growth|
|estrogen receptor activity|
|branch elongation involved in mammary gland duct branching|
|regulation of branching involved in prostate gland morphogenesis|
|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|
|prostate glandular acinus morphogenesis|
|mammary gland branching involved in pregnancy|
|transcriptional preinitiation complex|
|antral ovarian follicle growth|
|nitric-oxide synthase regulator activity|
|vagina development|
|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly|
|negative regulation of production of miRNAs involved in gene silencing by miRNA|
|branching involved in prostate gland morphogenesis|
|prostate gland growth|
|prostate glandular acinus development|
|mammary gland epithelial cell proliferation|
|negative regulation of gene silencing by miRNA|
|regulation of RNA polymerase II transcriptional preinitiation complex assembly|
|cellular response to estrogen stimulus|
|negative regulation of gene silencing by RNA|
|negative regulation of posttranscriptional gene silencing|
|female genitalia development|
|branch elongation of an epithelium|
|mammary gland lobule development|
|mammary gland alveolus development|
|positive regulation of transcription initiation from RNA polymerase II promoter|
|regulation of production of miRNAs involved in gene silencing by miRNA|
|intracellular estrogen receptor signaling pathway|
|regulation of production of small RNA involved in gene silencing by RNA|
|transcription coactivator binding|
|TBP-class protein binding|
|uterus development|
|prostate gland epithelium morphogenesis|
|branching involved in mammary gland duct morphogenesis|
|transcriptionally active chromatin|
|prostate gland morphogenesis|
|protein localization to chromatin|
|positive regulation of DNA-templated transcription, initiation|
|axis elongation|
|regulation of transcription initiation from RNA polymerase II promoter|
|androgen metabolic process|
|steroid binding|
|mammary gland duct morphogenesis|
|negative regulation of gene silencing|
|cellular response to estradiol stimulus|
|regulation of DNA-templated transcription, initiation|
|regulation of intracellular estrogen receptor signaling pathway|
|prostate gland development|
|negative regulation of I-kappaB kinase/NF-kappaB signaling|
|ovulation cycle process|
|positive regulation of phospholipase C activity|
|estrogen receptor binding|
|mammary gland morphogenesis|
|regulation of phospholipase C activity|
|nuclear receptor activity|
|genitalia development|
|positive regulation of fibroblast proliferation|
|ovarian follicle development|
|regulation of morphogenesis of a branching structure|
|mammary gland epithelium development|
|positive regulation of phospholipase activity|
|protein localization to chromosome|
|maternal process involved in female pregnancy|
|ovulation cycle|
|intracellular steroid hormone receptor signaling pathway|
|regulation of toll-like receptor signaling pathway|
|regulation of phospholipase activity|
|positive regulation of lipase activity|
|response to estrogen|
|regulation of intracellular steroid hormone receptor signaling pathway|
|ATPase binding|
|regulation of fibroblast proliferation|
|beta-catenin binding|
|regulation of gene silencing by miRNA|
|epithelial cell proliferation|
|female gonad development|
|regulation of posttranscriptional gene silencing|
|regulation of gene silencing by RNA|
|development of primary female sexual characteristics|
|phospholipase C-activating G protein-coupled receptor signaling pathway|
|organ growth|
|regulation of lipase activity|
|gland morphogenesis|
|female sex differentiation|
|developmental growth involved in morphogenesis|
|steroid hormone mediated signaling pathway|
|cellular hormone metabolic process|
|mammary gland development|
|regulation of gene silencing|
|branching morphogenesis of an epithelial tube|
|male gonad development|
|development of primary male sexual characteristics|
|response to estradiol|
|male sex differentiation|
|stem cell differentiation|
|morphogenesis of a branching epithelium|
|regulation of reproductive process|
|negative regulation of DNA-binding transcription factor activity|
|chromatin remodeling|
|intracellular receptor signaling pathway|
|positive regulation of protein kinase B signaling|
|morphogenesis of a branching structure|
|hormone-mediated signaling pathway|
|transcription initiation from RNA polymerase II promoter|
|regulation of morphogenesis of an epithelium|
|female pregnancy|
|cellular response to steroid hormone stimulus|
|epithelial cell development|
|hormone metabolic process|
|gonad development|
|multi-multicellular organism process|
|development of primary sexual characteristics|
|DNA-templated transcription, initiation|
|regulation of protein kinase B signaling|
|regulation of I-kappaB kinase/NF-kappaB signaling|
|nuclear chromatin|
|positive regulation of protein complex assembly|
|regulation of animal organ morphogenesis|
|steroid metabolic process|
|positive regulation of DNA-binding transcription factor activity|
|sex differentiation|
|rhythmic process|
|protein deubiquitination|
|positive regulation of cytosolic calcium ion concentration|
|protein modification by small protein removal|
|epithelial tube morphogenesis|
|urogenital system development|
|response to steroid hormone|
|regulation of cytosolic calcium ion concentration|
|transcription factor binding|
|regulation of inflammatory response|
|enzyme binding|
|regulation of Wnt signaling pathway|
|developmental growth|
|growth|
|chromatin binding|
|gland development|
|reproductive structure development|
|regulation of DNA-binding transcription factor activity|
|reproductive system development|
|morphogenesis of an epithelium|
|cellular calcium ion homeostasis|
|DNA-binding transcription activator activity, RNA polymerase II-specific|
|calcium ion homeostasis|
|regulation of protein complex assembly|
|regulation of innate immune response|
|protein kinase binding|
|cellular divalent inorganic cation homeostasis|
|transcription by RNA polymerase II|
|divalent inorganic cation homeostasis|
|RNA polymerase II proximal promoter sequence-specific DNA binding|
|negative regulation of intracellular signal transduction|
|positive regulation of cellular component biogenesis|
|cellular response to lipid|
|regulation of response to biotic stimulus|
|regulation of hormone levels|
|cellular response to organic cyclic compound|
|cell population proliferation|
|cellular metal ion homeostasis|
|tissue morphogenesis|
|protein-containing complex|
|cellular response to hormone stimulus|
|metal ion homeostasis|
|cellular cation homeostasis|
|transcription, DNA-templated|
|nucleic acid-templated transcription|
|cellular ion homeostasis|
|RNA biosynthetic process|
|tube morphogenesis|
|developmental process involved in reproduction|
|DNA-binding transcription factor activity|
|epithelial cell differentiation|
|chromatin organization|
|cation homeostasis|
|inorganic ion homeostasis|
|protein localization to organelle|
|cellular chemical homeostasis|
|regulation of defense response|
|positive regulation of hydrolase activity|
|regulation of multi-organism process|
|ion homeostasis|
|multicellular organismal reproductive process|
|zinc ion binding|
|multicellular organism reproduction|
|tube development|
|response to lipid|
|negative regulation of transcription by RNA polymerase II|
|cellular homeostasis|
|response to hormone|
|positive regulation of cell population proliferation|
|response to organic cyclic compound|
|animal organ morphogenesis|
|regulation of cellular component biogenesis|
|Golgi apparatus|
|protein modification by small protein conjugation or removal|
|multi-organism reproductive process|
|positive regulation of intracellular signal transduction|
|cellular response to oxygen-containing compound|
|regulation of anatomical structure morphogenesis|
|chromosome organization|
|identical protein binding|
|regulation of response to external stimulus|
|nucleobase-containing compound biosynthetic process|
|chemical homeostasis|
|epithelium development|
|negative regulation of molecular function|
|regulation of immune response|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|negative regulation of transcription, DNA-templated|
|positive regulation of cellular component organization|
|lipid metabolic process|
|positive regulation of transcription by RNA polymerase II|
|cellular response to endogenous stimulus|
|negative regulation of nucleic acid-templated transcription|
|negative regulation of RNA biosynthetic process|
|negative regulation of signal transduction|
|proteolysis|
|regulation of hydrolase activity|
|organic cyclic compound biosynthetic process|
|G protein-coupled receptor signaling pathway|
|negative regulation of RNA metabolic process|
|negative regulation of cell communication|
|negative regulation of signaling|
|negative regulation of cellular macromolecule biosynthetic process|
|reproductive process|
|reproduction|
|positive regulation of catalytic activity|
|negative regulation of nucleobase-containing compound metabolic process|
|negative regulation of macromolecule biosynthetic process|
|response to endogenous stimulus|
|regulation of response to stress|
|negative regulation of cellular biosynthetic process|
|regulation of apoptotic process|
|positive regulation of transcription, DNA-templated|
|negative regulation of biosynthetic process|
|response to oxygen-containing compound|
|DNA-binding transcription factor activity, RNA polymerase II-specific|
|regulation of programmed cell death|
|cellular protein localization|
|cellular macromolecule localization|
|regulation of cell population proliferation|
|negative regulation of response to stimulus|
|cellular nitrogen compound biosynthetic process|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|homeostatic process|
|cell development|
|regulation of immune system process|
|positive regulation of signal transduction|
|RNA metabolic process|
|regulation of cell death|
|cellular macromolecule biosynthetic process|
|negative regulation of gene expression|
|positive regulation of RNA metabolic process|
|tissue development|
|macromolecule biosynthetic process|
|positive regulation of molecular function|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of intracellular signal transduction|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|membrane|
|gene expression|
|positive regulation of biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='default' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
No hits were found.
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 6/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|6/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 15758
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.34 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ESR1 Expression in NALM6 Cells: 3.34'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>