ESR1


Summary: 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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
estrogen receptor 1MIM:133430Ensembl:ENSG00000091831HGNC:HGNC:3467PA1566q25.1-q25.2

GO terms in ESR1


Term TypeEvidence TypeGO Term IDGO Des.
MFIDAGO:0000978RNA polymerase II proximal promoter sequence-specific DNA binding
MFISAGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFISMGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFNASGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFIDAGO:0001077transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding
MFIPIGO:0001093TFIIB-class transcription factor binding
MFIPIGO:0001223transcription coactivator binding
MFIDAGO:0003682chromatin binding
MFNASGO:0003700DNA-binding transcription factor activity
MFTASGO:0003707steroid hormone receptor activity
MFISSGO:0005496steroid binding
MFIPIGO:0005515protein binding
MFIPIGO:0008013beta-catenin binding
MFIPIGO:0008134transcription factor binding
MFIEAGO:0008270zinc ion binding
MFIPIGO:0017025TBP-class protein binding
MFIPIGO:0019899enzyme binding
MFIPIGO:0019901protein kinase binding
MFNASGO:0030235nitric-oxide synthase regulator activity
MFIDAGO:0030284estrogen receptor activity
MFNASGO:0030284estrogen receptor activity
MFTASGO:0030284estrogen receptor activity
MFIPIGO:0030331estrogen receptor binding
MFIDAGO:0034056estrogen response element binding
MFIDAGO:0038052RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding
MFIGIGO:0038052RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding
MFIPIGO:0042802identical protein binding
MFTASGO:0046934phosphatidylinositol-4,5-bisphosphate 3-kinase activity
MFIDAGO:0051117ATPase binding
CCIDAGO:0000790nuclear chromatin
CCIDAGO:0005634nucleus
CCTASGO:0005654nucleoplasm
CCIDAGO:0005737cytoplasm
CCIEAGO:0005794Golgi apparatus
CCTASGO:0005829cytosol
CCIDAGO:0005886plasma membrane
CCNASGO:0016020membrane
CCIEAGO:0016021integral component of membrane
CCIMPGO:0032991protein-containing complex
CCIDAGO:0035327transcriptionally active chromatin
CCIDAGO:0097550transcriptional preinitiation complex
BPIMPGO:0000122negative regulation of transcription by RNA polymerase II
BPIEAGO:0001547antral ovarian follicle growth
BPIEAGO:0002064epithelial cell development
BPNASGO:0006338chromatin remodeling
BPTASGO:0006351transcription, DNA-templated
BPNASGO:0006355regulation of transcription, DNA-templated
BPTASGO:0006357regulation of transcription by RNA polymerase II
BPIDAGO:0006366transcription by RNA polymerase II
BPTASGO:0006367transcription initiation from RNA polymerase II promoter
BPTASGO:0007165signal transduction
BPISSGO:0007200phospholipase C-activating G-protein coupled receptor signaling pathway
BPISSGO:0007204positive regulation of cytosolic calcium ion concentration
BPIEAGO:0008209androgen metabolic process
BPIEAGO:0008584male gonad development
BPIDAGO:0010629negative regulation of gene expression
BPISSGO:0010863positive regulation of phospholipase C activity
BPTASGO:0016579protein deubiquitination
BPTASGO:0030111regulation of Wnt signaling pathway
BPISSGO:0030518intracellular steroid hormone receptor signaling pathway
BPIDAGO:0030520intracellular estrogen receptor signaling pathway
BPNASGO:0030520intracellular estrogen receptor signaling pathway
BPIDAGO:0032355response to estradiol
BPTASGO:0033146regulation of intracellular estrogen receptor signaling pathway
BPIEAGO:0034121regulation of toll-like receptor signaling pathway
BPIEAGO:0042981regulation of apoptotic process
BPIDAGO:0043124negative regulation of I-kappaB kinase/NF-kappaB signaling
BPIDAGO:0043433negative regulation of DNA-binding transcription factor activity
BPIDAGO:0043627response to estrogen
BPIDAGO:0045893positive regulation of transcription, DNA-templated
BPIDAGO:0045899positive regulation of RNA polymerase II transcriptional preinitiation complex assembly
BPIDAGO:0045944positive regulation of transcription by RNA polymerase II
BPIEAGO:0046854phosphatidylinositol phosphorylation
BPIEAGO:0048146positive regulation of fibroblast proliferation
BPIEAGO:0048863stem cell differentiation
BPIEAGO:0050727regulation of inflammatory response
BPIDAGO:0051091positive regulation of DNA-binding transcription factor activity
BPTASGO:0051897positive regulation of protein kinase B signaling
BPIEAGO:0060065uterus development
BPIEAGO:0060068vagina development
BPIEAGO:0060523prostate epithelial cord elongation
BPIEAGO:0060527prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis
BPIEAGO:0060687regulation of branching involved in prostate gland morphogenesis
BPIEAGO:0060745mammary gland branching involved in pregnancy
BPIEAGO:0060749mammary gland alveolus development
BPIEAGO:0060750epithelial cell proliferation involved in mammary gland duct elongation
BPIMPGO:0071168protein localization to chromatin
BPIEAGO:0071391cellular response to estrogen stimulus
BPIDAGO:0071392cellular response to estradiol stimulus
BPISSGO:0071392cellular response to estradiol stimulus
BPIMPGO:1903799negative regulation of production of miRNAs involved in gene silencing by miRNA

Gene expression in normal tissue: ESR1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in ESR1


DatabasePathway IDPathway Des.
biocartacarmerpathwaycarm1 and regulation of the estrogen receptor
biocartaefppathwayestrogen responsive protein efp controls cell cycle and breast tumors growth
biocartaher2pathwayrole of erbb2 in signal transduction and oncology
biocartamta3pathwaydownregulated of mta-3 in er-negative breast tumors
biocartapelp1pathwaypelp1 modulation of estrogen receptor activity
biocartatertpathwayoverview of telomerase protein component gene htert transcriptional regulation
reactomeR-HSA-1236394Signaling by ERBB4
reactomeR-HSA-1251985Nuclear signaling by ERBB4
reactomeR-HSA-1257604PIP3 activates AKT signaling
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-1643685Disease
reactomeR-HSA-199418Negative regulation of the PI3K/AKT network
reactomeR-HSA-212436Generic Transcription Pathway
reactomeR-HSA-212436Generic Transcription Pathway
reactomeR-HSA-2219528PI3K/AKT Signaling in Cancer
reactomeR-HSA-2219530Constitutive Signaling by Aberrant PI3K in Cancer
reactomeR-HSA-2990846SUMOylation
reactomeR-HSA-3108232SUMO E3 ligases SUMOylate target proteins
reactomeR-HSA-383280Nuclear Receptor transcription pathway
reactomeR-HSA-392499Metabolism of proteins
reactomeR-HSA-4090294SUMOylation of intracellular receptors
reactomeR-HSA-5663202Diseases of signal transduction
reactomeR-HSA-5688426Deubiquitination
reactomeR-HSA-5689896Ovarian tumor domain proteases
reactomeR-HSA-597592Post-translational protein modification
reactomeR-HSA-6811558PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
reactomeR-HSA-73857RNA Polymerase II Transcription
reactomeR-HSA-73857RNA Polymerase II Transcription
reactomeR-HSA-74160Gene expression (Transcription)
reactomeR-HSA-74160Gene expression (Transcription)
reactomeR-HSA-8864260Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
reactomeR-HSA-8866910TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
reactomeR-HSA-8878166Transcriptional regulation by RUNX2
reactomeR-HSA-8878166Transcriptional regulation by RUNX2
reactomeR-HSA-8878171Transcriptional regulation by RUNX1
reactomeR-HSA-8931987RUNX1 regulates estrogen receptor mediated transcription
reactomeR-HSA-8939211ESR-mediated signaling
reactomeR-HSA-8939256RUNX1 regulates transcription of genes involved in WNT signaling
reactomeR-HSA-8939902Regulation of RUNX2 expression and activity
reactomeR-HSA-8939902Regulation of RUNX2 expression and activity
reactomeR-HSA-9006925Intracellular signaling by second messengers
reactomeR-HSA-9006931Signaling by Nuclear Receptors
reactomeR-HSA-9006934Signaling by Receptor Tyrosine Kinases
reactomeR-HSA-9018519Estrogen-dependent gene expression
netpathPathway_AndrogenReceptorAndrogenReceptor
netpathPathway_LeptinLeptin
netpathPathway_ProlactinProlactin
netpathPathway_TGF_beta_ReceptorTGF_beta_Receptor
kegghsa04915Estrogen signaling pathway - Homo sapiens (human)
kegghsa04917Prolactin signaling pathway - Homo sapiens (human)
kegghsa04919Thyroid hormone signaling pathway - Homo sapiens (human)
kegghsa04961Endocrine and other factor-regulated calcium reabsorption - Homo sapiens (human)
kegghsa05200Pathways in cancer - Homo sapiens (human)
kegghsa05205Proteoglycans in cancer - Homo sapiens (human)
kegghsa05224Breast cancer - Homo sapiens (human)
wikipathwaysWP170Nuclear Receptors
wikipathwaysWP1984Integrated Breast Cancer Pathway
wikipathwaysWP2005miR-targeted genes in muscle cell - TarBase
wikipathwaysWP2034Leptin signaling pathway
wikipathwaysWP2586Aryl Hydrocarbon Receptor
wikipathwaysWP2593JAK-STAT
wikipathwaysWP2881Estrogen Receptor Pathway
wikipathwaysWP2882Nuclear Receptors Meta-Pathway
wikipathwaysWP4086Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
wikipathwaysWP712Estrogen signaling pathway
smpdbSMP00471Tamoxifen Action Pathway
smpdbSMP00606Tamoxifen Metabolism Pathway
pidap1_pathwayAP-1 transcription factor network
pidatf2_pathwayATF-2 transcription factor network
pider_nongenomic_pathwayPlasma membrane estrogen receptor signaling
pidera_genomic_pathwayValidated nuclear estrogen receptor alpha network
pidfoxm1pathwayFOXM1 transcription factor network
pidhdac_classii_pathwaySignaling events mediated by HDAC Class II
pidhnf3apathwayFOXA1 transcription factor network
pidlkb1_pathwayLKB1 signaling events
pidp38alphabetadownstreampathwaySignaling mediated by p38-alpha and p38-beta
pidsmad2_3nuclearpathwayRegulation of nuclear SMAD2/3 signaling
pidtelomerasepathwayRegulation of Telomerase
pharmgkbPA145011120Aromatase Inhibitor Pathway (Breast Cell), Pharmacodynamics

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD126Tipifarnib2
iGMDRD818anti-estrogens9
iGMDRD420Leucascandrolide A2
iGMDRD772BRD47702
iGMDRD1008SR-II-138A3
iGMDRD70LHRH analogues or antagonist1
iGMDRD546BMS-7548073
iGMDRD142NSC748592
iGMDRD902Endocrine therapy21
iGMDRD61Kinetin riboside1
iGMDRD466Chaetocin2
iGMDRD280CYTOCHALASIN B5
iGMDRD359OSW-13
iGMDRD138PX 123
iGMDRD8024-methylfasudil1
iGMDRD260FQI-21
iGMDRD284Palbociclib2
iGMDRD885Compound 1105
iGMDRD188Piperlongumine2
iGMDRD100Zebularine2
iGMDRD399Selumetinib3
iGMDRD562Navitoclax5
iGMDRD731GDC-08109
iGMDRD919Hormone Therapy5
iGMDRD23Gossypol3
iGMDRD524ISX-95
iGMDRD424Tamatinib2
iGMDRD523Cyanoquinoline, 113
iGMDRD57Chloropentafluorobenzene5
iGMDRD101Fulvestrant8
iGMDRD28Letrozole2
iGMDRD202Curcumin4
iGMDRD310Everolimus1
iGMDRD221Tamoxifen15
iGMDRD434BMS-5369243
iGMDRD481Dactolisib5
iGMDRD871BRD63683
iGMDRD286Nsc 6328392
iGMDRD8Anastrozole1
iGMDRD650Abemaciclib1
iGMDRD960novel estrogen receptor degrader2
iGMDRD505Pevonedistat2
iGMDRD82Quiflapon1
iGMDRD9Aromatase ihibitor1
iGMDRD783BRD-K93923542-001-01-93

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ESR1

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