ESR1 Gene (Protein Coding)

Estrogen Receptor 1

GC06P151656
GIFtS:
53
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 r... See more...

Aliases for ESR1 Gene

Aliases for ESR1 Gene

  • Estrogen Receptor 1 2 3 5
  • Nuclear Receptor Subfamily 3 Group A Member 1 2 3 4
  • ER-Alpha 2 3 4
  • NR3A1 2 3 4
  • Oestrogen Receptor Alpha 2 3
  • Estradiol Receptor 3 4
  • E2 Receptor Alpha 2 3
  • Estrogen Receptor 3 4
  • ESR 3 4
  • Era 2 3
  • ER 3 4
  • Estrogen Receptor Alpha E1-N2-E2-1-2 3
  • Estrogen Receptor Alpha E1-E2-1-2 3
  • Estrogen Nuclear Receptor Alpha 3
  • Estrogen Receptor Alpha 2
  • ESTRR 3
  • ESRA 3
  • ESR1 5

External Ids for ESR1 Gene

Previous HGNC Symbols for ESR1 Gene

  • ESR

Previous GeneCards Identifiers for ESR1 Gene

  • GC06P151689
  • GC06P152023
  • GC06P152159
  • GC06P152220
  • GC06P149573
  • GC06P151978
  • GC06P151980
  • GC06P151985
  • GC06P151988

Summaries for ESR1 Gene

Entrez Gene Summary for ESR1 Gene

  • 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]

CIViC Summary for ESR1 Gene

  • ESR1 has been a focus in breast cancer for quite some time, but is also clinically relevant in endometrial, ovarian and other cancer types. The identification of ER-positive breast cancers that are resistant to hormone therapy have inspired clinical sequencing efforts to shed light on the mechanisms of this resistance. A number of mutations in the ligand binding domain of ESR1 have been implicated in hormone resistance and anti-estrogen therapies. These observations have spurred efforts to develop therapeutics that stimulate ESR1 protein degradation (e.g. Fulvestrant), rather than acting as a small molecule antagonist. These agents are currently in clinical trials and have seen some success.

GeneCards Summary for ESR1 Gene

ESR1 (Estrogen Receptor 1) is a Protein Coding gene. Diseases associated with ESR1 include Estrogen Resistance and Breast Cancer. Among its related pathways are Apoptosis and survival_Anti-apoptotic action of nuclear ESR1 and ESR2 and Lamotrigine Pathway, Pharmacokinetics and Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and identical protein binding. An important paralog of this gene is ESR2.

UniProtKB/Swiss-Prot Summary for ESR1 Gene

  • 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.

Tocris Summary for ESR1 Gene

  • Estrogen controls many cellular processes including growth, differentiation and function of the reproductive system. Estrogen is also responsible for the growth and maintenance of the skeleton and the normal function of the cardiovascular and nervous systems.

Gene Wiki entry for ESR1 Gene

Additional gene information for ESR1 Gene

No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ESR1 Gene

Genomics for ESR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ESR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH06J151689 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 252.2 +37.4 37366 3.8 BCLAF1 SP1 JUND YY1 BCL11A TRIM22 CUX1 SMC3 IRF4 EBF1 ESR1 ENSG00000233823 ZBTB2 CCDC170 HSALNG0054376 lnc-ESR1-3 HSALNG0054377 SYNE1
GH06J151806 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 250.1 +154.5 154532 3.4 ZIC2 ZBTB10 SIN3A HNF4A FOXA1 POLR2A RAD21 GLIS1 SP1 CREB1 ESR1 ARMT1 HSALNG0054378 HSALNG0054381 lnc-ESR1-3 SYNE1
GH06J151804 Promoter/Enhancer 0.9 EPDnew ENCODE 250.1 +151.2 151156 1.1 ZIC2 FEZF1 ZNF341 ZBTB48 ZNF547 ZNF366 OSR2 ZBTB17 ZKSCAN1 EP300 HSALNG0054378 ESR1 KR153194-174 lnc-ESR1-3 SYNE1
GH06J151652 Enhancer 0.7 Ensembl dbSUPER 250.7 -1.7 -1696 0.5 FOXA2 CTBP1 RXRA THRB FOXA1 SP1 ZNF687 MNT ZNF24 ZNF592 ESR1 lnc-RMND1-2 CCDC170
GH06J151641 Promoter 0.7 EPDnew 250.4 -12.8 -12814 0.1 YY1 FOXA2 RXRA ZBTB33 JUND HNF4A REST MAX SP1 ESR1 lnc-RMND1-2 HSALNG0054372 CCDC170
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ESR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ESR1

Top Transcription factor binding sites by QIAGEN in the ESR1 gene promoter:
  • AhR
  • E4BP4
  • HFH-1
  • TBP

Genomic Locations for ESR1 Gene

Latest Assembly
chr6:151,654,148-152,129,619
(GRCh38/hg38)
Size:
475,472 bases
Orientation:
Plus strand

Previous Assembly
chr6:151,977,807-152,450,754
(GRCh37/hg19 by Entrez Gene)
Size:
472,948 bases
Orientation:
Plus strand

chr6:151,977,826-152,450,754
(GRCh37/hg19 by Ensembl)
Size:
472,929 bases
Orientation:
Plus strand

Genomic View for ESR1 Gene

Genes around ESR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ESR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ESR1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ESR1 Gene

Proteins for ESR1 Gene

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  • Protein details for ESR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P03372-ESR1_HUMAN
    Recommended name:
    Estrogen receptor
    Protein Accession:
    P03372
    Secondary Accessions:
    • Q13511
    • Q14276
    • Q5T5H7
    • Q6MZQ9
    • Q9NU51
    • Q9UDZ7
    • Q9UIS7

    Protein attributes for ESR1 Gene

    Size:
    595 amino acids
    Molecular mass:
    66216 Da
    Quaternary structure:
    • Binds DNA as a homodimer. Can form a heterodimer with ESR2. Isoform 3 can probably homodimerize or heterodimerize with isoform 1 and ESR2. Interacts with FOXC2, MAP1S, SLC30A9, UBE1C and NCOA3 coactivator (By similarity). Interacts with EP300; the interaction is estrogen-dependent and enhanced by CITED1. Interacts with CITED1; the interaction is estrogen-dependent. Interacts with NCOA5 and NCOA6 coactivators. Interacts with NCOA7; the interaction is a ligand-inducible. Interacts with PHB2, PELP1 and UBE1C. Interacts with AKAP13. Interacts with CUEDC2. Interacts with KDM5A. Interacts with SMARD1. Interacts with HEXIM1. Interacts with PBXIP1. Interaction with MUC1 is stimulated by 7 beta-estradiol (E2) and enhances ERS1-mediated transcription. Interacts with DNTTIP2, FAM120B and UIMC1. Interacts with isoform 4 of TXNRD1. Interacts with KMT2D/MLL2. Interacts with ATAD2 and this interaction is enhanced by estradiol. Interacts with KIF18A and LDB1. Interacts with RLIM (via C-terminus). Interacts with MACROD1. Interacts with SH2D4A and PLCG. Interaction with SH2D4A blocks binding to PLCG and inhibits estrogen-induced cell proliferation. Interacts with DYNLL1. Interacts with CCDC62 in the presence of estradiol/E2; this interaction seems to enhance the transcription of target genes. Interacts with NR2C1; the interaction prevents homodimerization of ESR1 and suppresses its transcriptional activity and cell growth. Interacts with DNAAF4. Interacts with PRMT2. Interacts with PI3KR1 or PI3KR2, SRC and PTK2/FAK1. Interacts with RBFOX2. Interacts with STK3/MST2 only in the presence of SAV1 and vice-versa. Binds to CSNK1D. Interacts with NCOA2; NCOA2 can interact with ESR1 AF-1 and AF-2 domains simultaneously and mediate their transcriptional synergy. Interacts with DDX5. Interacts with NCOA1; the interaction seems to require a self-association of N-terminal and C-terminal regions. Interacts with ZNF366, DDX17, NFKB1, RELA, SP1 and SP3. Interacts with NRIP1 (By similarity). Interacts with GPER1; the interaction occurs in an estrogen-dependent manner. Interacts with CLOCK and the interaction is stimulated by estrogen. Interacts with BCAS3. Interacts with TRIP4 (ufmylated); estrogen dependent. Interacts with LMTK3; the interaction phosphorylates ESR1 (in vitro) and protects it against proteasomal degradation. Interacts with CCAR2 (via N-terminus) in a ligand-independent manner. Interacts with ZFHX3. Interacts with SFR1 in a ligand-dependent and -independent manner (PubMed:23874500). Interacts with DCAF13, LATS1 and DCAF1; regulates ESR1 ubiquitination and ubiquitin-mediated proteasomal degradation (PubMed:28068668). Interacts (via DNA-binding domain) with POU4F2 (C-terminus); this interaction increases the estrogen receptor ESR1 transcriptional activity in a DNA- and ligand 17-beta-estradiol-independent manner (By similarity). Interacts with ESRRB isoform 1 (PubMed:19755138). Interacts with UBE3A and WBP2 (PubMed:16772533). Interacts with GTF2B (PubMed:1517211). Interacts with RBM39 (By similarity). In the absence of hormonal ligand, interacts with TACC1 (PubMed:20078863).
    SequenceCaution:
    • Sequence=AAB00115.1; Type=Miscellaneous discrepancy; Note=contains an in-frame duplication of exons 6 and 7.; Evidence={ECO:0000305};
    Miscellaneous:
    • Selective estrogen receptor modulators (SERMs), such as tamoxifen, raloxifene, toremifene, lasofoxifene, clomifene, femarelle and ormeloxifene, have tissue selective agonistic and antagonistic effects on the estrogen receptor (ER). They interfere with the ER association with coactivators or corepressors, mainly involving the AF-2 domain.
    • [Isoform 3]: Produced by alternative promoter usage.
    • [Isoform 4]: Produced by alternative splicing of isoform 3.

    Three dimensional structures from OCA and Proteopedia for ESR1 Gene

    Alternative splice isoforms for ESR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ESR1 Gene

Protein Expression for ESR1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ESR1 Gene

  • Phosphorylated by cyclin A/CDK2 and CK1. Phosphorylation probably enhances transcriptional activity. Self-association induces phosphorylation. Dephosphorylation at Ser-118 by PPP5C inhibits its transactivation activity. Phosphorylated by LMTK3 in vitro.
  • Glycosylated; contains N-acetylglucosamine, probably O-linked.
  • Ubiquitinated; regulated by LATS1 via DCAF1 it leads to ESR1 proteasomal degradation (PubMed:21602804, PubMed:28068668). Deubiquitinated by OTUB1 (PubMed:19383985).
  • Dimethylated by PRMT1 at Arg-260. The methylation may favor cytoplasmic localization (PubMed:18657504, PubMed:24498420). Demethylated by JMJD6 at Arg-260 (PubMed:24498420).
  • Palmitoylated (isoform 3). Not biotinylated (isoform 3).
  • Palmitoylated by ZDHHC7 and ZDHHC21. Palmitoylation is required for plasma membrane targeting and for rapid intracellular signaling via ERK and AKT kinases and cAMP generation, but not for signaling mediated by the nuclear hormone receptor.
  • Glycosylation at Ser10
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • ESR1_HUMAN (144)

Other Protein References for ESR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for ESR1 Gene

Domains & Families for ESR1 Gene

Gene Families for ESR1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • FDA approved drug targets
  • Nuclear receptors
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ESR1 Gene

InterPro:
Blocks:
  • Steroid hormone receptor signature
  • Oestrogen receptor signature

Suggested Antigen Peptide Sequences for ESR1 Gene

GenScript: Design optimal peptide antigens:
  • Estrogen receptor 1 (B0QYW6_HUMAN)
  • Estrogen receptor 1 (B0QYW7_HUMAN)
  • Estrogen receptor alpha delta 3,4,5,6 isoform (B5LY05_HUMAN)
  • Estrogen receptor alpha delta 1*,2,3*/663 choroid plexus isoform (B5M0Y2_HUMAN)
  • Estrogen receptor alpha substantia nigra isoform (B5TKC0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P03372

UniProtKB/Swiss-Prot:

ESR1_HUMAN :
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain. The modulating domain, also known as A/B or AF-1 domain has a ligand-independent transactivation function. The C-terminus contains a ligand-dependent transactivation domain, also known as E/F or AF-2 domain which overlaps with the ligand binding domain. AF-1 and AF-2 activate transcription independently and synergistically and act in a promoter- and cell-specific manner. AF-1 seems to provide the major transactivation function in differentiated cells.
  • Belongs to the nuclear hormone receptor family. NR3 subfamily.
Domain:
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain. The modulating domain, also known as A/B or AF-1 domain has a ligand-independent transactivation function. The C-terminus contains a ligand-dependent transactivation domain, also known as E/F or AF-2 domain which overlaps with the ligand binding domain. AF-1 and AF-2 activate transcription independently and synergistically and act in a promoter- and cell-specific manner. AF-1 seems to provide the major transactivation function in differentiated cells.
Family:
  • Belongs to the nuclear hormone receptor family. NR3 subfamily.
genes like me logo Genes that share domains with ESR1: view

Function for ESR1 Gene

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Molecular function for ESR1 Gene

UniProtKB/Swiss-Prot Function:
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.
GENATLAS Biochemistry:
estrogen receptor 1 alpha,steroid/thyroid hormone receptor superfamily,coactivated by PPARBP

Phenotypes From GWAS Catalog for ESR1 Gene

Gene Ontology (GO) - Molecular Function for ESR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 12047722
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001093 TFIIB-class transcription factor binding IPI 9841876
GO:0001223 transcription coactivator binding IPI 21642474
GO:0001226 RNA polymerase II transcription corepressor binding IPI 12535528
genes like me logo Genes that share ontologies with ESR1: view
genes like me logo Genes that share phenotypes with ESR1: view

Human Phenotype Ontology for ESR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ESR1 Gene

MGI Knock Outs for ESR1:
  • Esr1 Esr1<tm1Ksk>
  • Esr1 Esr1<tm1.1Mma>
  • Esr1 Esr1<tm4.2Ksk>
  • Esr1 Esr1<tm1.1Gust>
  • Esr1 Esr1<tm1.1Pws>
  • Esr1 Esr1<tm1.1Awo>
  • Esr1 Esr1<tm1.1Rake>

Animal Models for research

miRNA for ESR1 Gene

miRTarBase miRNAs that target ESR1

Transcription Factor Targets for ESR1 Gene

Selected GeneGlobe predicted Target genes for ESR1
Targeted motifs for ESR1 Gene
HOMER Transcription Factor Regulatory Elements motif ESR1
  • Consensus sequence: AAGGTCACNGTGACC Submotif: IR3 Cell Type: MCF7

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ESR1

Clone products for research

  • Addgene plasmids for ESR1

No data available for Enzyme Numbers (IUBMB) for ESR1 Gene

Localization for ESR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ESR1 Gene

[Isoform 1]: Nucleus. Cytoplasm. Cell membrane. Peripheral membrane protein. Cytoplasmic side. Note=A minor fraction is associated with the inner membrane.
[Isoform 3]: Nucleus. Cytoplasm. Cell membrane. Peripheral membrane protein. Cytoplasmic side. Cell membrane. Single-pass type I membrane protein. Note=Associated with the inner membrane via palmitoylation (Probable). At least a subset exists as a transmembrane protein with a N-terminal extracellular domain. {ECO:0000305}.
Nucleus. Golgi apparatus. Cell membrane. Note=Colocalizes with ZDHHC7 and ZDHHC21 in the Golgi apparatus where most probably palmitoylation occurs. Associated with the plasma membrane when palmitoylated.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ESR1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
golgi apparatus 5
extracellular 3
cytoskeleton 3
mitochondrion 3
endoplasmic reticulum 3
peroxisome 2
endosome 2
lysosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ESR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA,ISA --
GO:0005634 nucleus IEA,IDA 9841876
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 17505058
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with ESR1: view

Pathways & Interactions for ESR1 Gene

genes like me logo Genes that share pathways with ESR1: view

Pathways by source for ESR1 Gene

7 GeneGo (Thomson Reuters) pathways for ESR1 Gene
  • Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1
  • Apoptosis and survival_Anti-apoptotic action of nuclear ESR1 and ESR2
  • Cell cycle ESR1 regulation of G1/S transition
  • Development Ligand-dependent activation of the ESR1/AP-1 pathway
  • Development Ligand-independent activation of ESR1 and ESR2
1 R&D Systems pathway for ESR1 Gene
7 Qiagen pathways for ESR1 Gene
  • AHR Pathway
  • Crosstalk Between CARM1 and ESRs
  • eNOS Signaling
  • ERK Signaling
  • Estrogen Pathway

SIGNOR curated interactions for ESR1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for ESR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 20388878
GO:0001547 antral ovarian follicle growth IEA --
GO:0002064 epithelial cell development IEA --
GO:0006338 chromatin remodeling NAS 12351687
GO:0006355 regulation of transcription, DNA-templated IEA,NAS 3753802
genes like me logo Genes that share ontologies with ESR1: view

Drugs & Compounds for ESR1 Gene

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(247) Drugs for ESR1 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fulvestrant Approved, Investigational Pharma Antagonist, Target, inhibitor Estrogen receptor antagonist,high affinity, Hormone therapy 331
Tamoxifen Approved Pharma Agonist, Antagonist, Target, Biomarker TGF-β modulatory and PKC inhibitory effects, ER antagonist, Anti-Estrogens 469
Diethylstilbestrol Approved, Investigational Pharma Agonist, Target 7
Estrone Approved Pharma Agonist, Target Estrogenic hormone 24
raloxifene Approved, Investigational Pharma Agonist, Antagonist, Target, modulator 0

(48) Additional Compounds for ESR1 Gene - From: Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-hydroxy?àëtamoxifen
Agonist, Antagonist
AC 186
1421854-16-1
beta-Estradiol
50-28-2
ICI 182,780
129453-61-8

(5) Tocris Compounds for ESR1 Gene

Compound Action Cas Number
AC 186 Potent and selective ERbeta agonist; neuroprotective 1421854-16-1
beta-Estradiol Endogenous ER agonist 50-28-2
ICI 182,780 Estrogen receptor antagonist 129453-61-8
PPT Subtype-selective ERalpha agonist 263717-53-9
Tamoxifen citrate Estrogen receptor partial agonist/antagonist 54965-24-1

(52) ApexBio Compounds for ESR1 Gene

Compound Action Cas Number
(E)-2-Decenoic acid Fatty acid identified in royal jelly 334-49-6
(R)-DPN 524047-78-7
(R,R)-THC 138090-06-9
(Z)-4-Hydroxytamoxifen ER modulator, potent and selective 68047-06-3
Altrenogest 850-52-2
Bazedoxifene Estrogen receptor modulator 198481-32-2
Bazedoxifene acetate Estrogen receptor modulator 198481-33-3
Bazedoxifene HCl 198480-56-7
Chlorotrianisene Estrogen agonist 569-57-3
Clomiphene citrate 50-41-9
Cyclofenil 2624-43-3
Diethylstilbestrol 56-53-1
DPN 1428-67-7
Endoxifen 112093-28-4
Equol 531-95-3
ERB 041 524684-52-4
Erteberel (LY500307) 533884-09-2
Estradiol Sex hormone 50-28-2
Estradiol Benzoate 50-50-0
Estradiol Cypionate 313-06-4
Estriol 50-27-1
Estrone Estrogenic hormone 53-16-7
Estropipate 7280-37-7
Ethinyl Estradiol Oral contraceptive 57-63-6
Ethisterone Progestogen hormone 434-03-7
Ethynodiol diacetate 297-76-7
Etonogestrel 54048-10-1
FERb 033 1111084-78-6
Fulvestrant Estrogen receptor antagonist,high affinity 129453-61-8
G-36 1392487-51-2
Gestodene 60282-87-3
GSK 4716 101574-65-6
Hexestrol 84-16-2
Medroxyprogesterone acetate Steroidal progestin 71-58-9
Megestrol Acetate Anti-estrogen agent 595-33-5
Mestranol Estrogen used in contraceptives 72-33-3
MPP dihydrochloride 911295-24-4
Ospemifene 128607-22-7
PHTPP 805239-56-9
PPT 263717-53-9
Raloxifene HCl Estrogen receptor (ER) 82640-04-8
RU 58668 151555-47-4
Tamoxifen TGF-β modulatory and PKC inhibitory effects 10540-29-1
Tamoxifen Citrate Antiestrogen drug 54965-24-1
Toremifene Estrogen-receptor modulator 89778-26-7
Toremifene Citrate 89778-27-8
Ulipristal 159811-51-5
WAY 200070 440122-66-7
Y 134 849662-80-2
Zearalenone 17924-92-4
ZK 164015 177583-70-9
α-Estradiol 57-91-0
genes like me logo Genes that share compounds with ESR1: view

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Transcripts for ESR1 Gene

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mRNA/cDNA for ESR1 Gene

12 REFSEQ mRNAs :
99 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ESR1

Clone products for research

  • Addgene plasmids for ESR1

Alternative Splicing Database (ASD) splice patterns (SP) for ESR1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b
SP1:
SP2: - - -
SP3: - - - -

Relevant External Links for ESR1 Gene

GeneLoc Exon Structure for
ESR1

Expression for ESR1 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ESR1 Gene

mRNA expression in normal human tissues for ESR1 Gene
mRNA expression by BioGPS for ESR1 GenemRNA expression by GTEx for ESR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ESR1 Gene

This gene is overexpressed in Uterus (x9.4), Cervix - Endocervix (x8.4), Cervix - Ectocervix (x8.0), Vagina (x7.1), and Fallopian Tube (x5.2).

Protein differential expression in normal tissues from HIPED for ESR1 Gene

This gene is overexpressed in Breast (61.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ESR1 Gene



Protein tissue co-expression partners for ESR1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ESR1

SOURCE GeneReport for Unigene cluster for ESR1 Gene:

Hs.208124

mRNA Expression by UniProt/SwissProt for ESR1 Gene:

P03372-ESR1_HUMAN
Tissue specificity: Widely expressed. Isoform 3 is not expressed in the pituitary gland.

Evidence on tissue expression from TISSUES for ESR1 Gene

  • Liver(3.4)
  • Lymph node(3.1)
  • Nervous system(3)
  • Blood(2.9)
  • Thyroid gland(2.9)
  • Kidney(2.8)
  • Intestine(2.8)
  • Muscle(2.8)
  • Skin(2.8)
  • Heart(2.6)
  • Bone(2.6)
  • Adrenal gland(2.6)
  • Lung(2.4)
  • Pancreas(2.3)
  • Bone marrow(2.3)
  • Stomach(2.2)
  • Urine(2.2)
  • Spleen(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ESR1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • endocrine
  • reproductive
  • skeleton
Regions:
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • ovary
  • pelvis
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ESR1: view

Primer products for research

Orthologs for ESR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ESR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ESR1 29 30
  • 99.22 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ESR1 29 30
  • 89.58 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ESR1 29 30
  • 89.15 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ESR1 30
  • 87 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Esr1 29 16 30
  • 85.6 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Esr1 29
  • 84.65 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia ESR1 30
  • 73 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ESR1 29 30
  • 75.95 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ESR1 30
  • 71 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia esr1 29
  • 68.54 (n)
LOC394461 29
African clawed frog
(Xenopus laevis)
 Amphibia LOC398734 29
Zebrafish
(Danio rerio)
 Actinopterygii esr1 29 30
  • 62.36 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta ERR 30
  • 25 (a)
 OneToMany
Species where no ortholog for ESR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ESR1 Gene

ENSEMBL:
Gene Tree for ESR1 (if available)
TreeFam:
Gene Tree for ESR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ESR1: view image
Alliance of Genome Resources:
Additional Orthologs for ESR1

Paralogs for ESR1 Gene

Paralogs for ESR1 Gene

(61) SIMAP similar genes for ESR1 Gene using alignment to 62 proteins:

  • ESR1_HUMAN
  • B0QYW7_HUMAN
  • B5LY05_HUMAN
  • B5M0Y2_HUMAN
  • B5TKC0_HUMAN
  • B5TKC1_HUMAN
  • B5TKC2_HUMAN
  • B5TZ77_HUMAN
  • B5TZ78_HUMAN
  • B5TZ79_HUMAN
  • B5TZ80_HUMAN
  • B5TZ81_HUMAN
  • B5TZ82_HUMAN
  • B5TZ83_HUMAN
  • B6DP71_HUMAN
  • B6DP72_HUMAN
  • B6DP73_HUMAN
  • B6DP74_HUMAN
  • B6DP75_HUMAN
  • B6DU66_HUMAN
  • B6DU67_HUMAN
  • B6DU68_HUMAN
  • B6DU69_HUMAN
  • B6DU70_HUMAN
  • C0L927_HUMAN
  • C0LJA7_HUMAN
  • C0LJA8_HUMAN
  • C0LJA9_HUMAN
  • C0LLI5_HUMAN
  • C0LLI6_HUMAN
  • C0LLI7_HUMAN
  • C0LLI8_HUMAN
  • C0LLI9_HUMAN
  • C7FFR5_HUMAN
  • C8CD01_HUMAN
  • C8CJK8_HUMAN
  • C8CJK9_HUMAN
  • C8CJL0_HUMAN
  • C8CJL1_HUMAN
  • C8CJL2_HUMAN
  • C8CJL3_HUMAN
  • C8CJL4_HUMAN
  • C8CJL5_HUMAN
  • C8CJL6_HUMAN
  • C9E0E9_HUMAN
  • C9E0F0_HUMAN
  • C9E0F1_HUMAN
  • C9E0F2_HUMAN
  • C9E0F3_HUMAN
  • E3WH18_HUMAN
  • E3WH19_HUMAN
  • G4XH65_HUMAN
  • H0Y4W6_HUMAN
  • K4PX46_HUMAN
  • K4PXX0_HUMAN
  • K4Q331_HUMAN
  • K7R989_HUMAN
  • L8E8A8_HUMAN
  • Q0H8T6_HUMAN
  • Q5T5H8_HUMAN
  • Q9H1Z6_HUMAN
  • Q9H2M1_HUMAN
genes like me logo Genes that share paralogs with ESR1: view

Variants for ESR1 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Polymorphic Variants from UniProtKB/Swiss-Prot for ESR1 Gene

ESR1_HUMAN-P03372
Genetic variations in ESR1 are correlated with bone mineral density (BMD). Low BMD is a risk factor for osteoporotic fracture. Osteoporosis is characterized by reduced bone mineral density, disruption of bone microarchitecture, and the alteration of the amount and variety of non-collagenous proteins in bone. Osteoporotic bones are more at risk of fracture.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ESR1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
1024748 Uncertain Significance: Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 152,122,615(+) C/T
NM_182961.4(SYNE1):c.26215G>A (p.Gly8739Ser) 		MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON
1033002 Uncertain Significance: Emery-Dreifuss muscular dystrophy 4, autosomal dominant 152,125,266(+) G/C
NM_182961.4(SYNE1):c.26154-2590C>G 		MISSENSE_VARIANT,INTRON
1042408 Uncertain Significance: Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 152,122,686(+) G/T
NM_182961.4(SYNE1):c.26154-10C>A 		INTRON
1047425 Uncertain Significance: Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 152,122,455(+) T/C
NM_182961.4(SYNE1):c.26375A>G (p.Asn8792Ser) 		MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON
16594 Risk Factor: Myocardial infarction; Myocardial infarction, susceptibility to 151,842,200(+) T/C
NM_000125.4(ESR1):c.453-397T>C 		INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ESR1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ESR1 Gene

Variant ID Type Subtype PubMed ID
dgv1068n67 CNV loss 20364138
dgv10970n54 CNV loss 21841781
dgv10971n54 CNV loss 21841781
dgv10972n54 CNV loss 21841781
dgv10973n54 CNV loss 21841781
dgv10974n54 CNV loss 21841781
dgv164e180 CNV loss 20482838
dgv1841e212 CNV loss 25503493
dgv1842e212 CNV loss 25503493
dgv1843e212 CNV loss 25503493
dgv3413n106 CNV deletion 24896259
esv1599352 CNV deletion 17803354
esv1932842 CNV deletion 18987734
esv2553510 CNV deletion 19546169
esv25879 CNV loss 19812545
esv2673247 CNV deletion 23128226
esv2732904 CNV deletion 23290073
esv2761004 CNV gain+loss 21179565
esv3283051 CNV deletion 24192839
esv3344212 CNV insertion 20981092
esv3540656 CNV deletion 23714750
esv3540657 CNV deletion 23714750
esv3558 CNV loss 18987735
esv3571468 CNV loss 25503493
esv3571477 CNV loss 25503493
esv3611272 CNV loss 21293372
esv3611273 CNV loss 21293372
esv3611274 CNV loss 21293372
esv3611275 CNV loss 21293372
esv3611276 CNV loss 21293372
esv3611277 CNV loss 21293372
esv3611278 CNV loss 21293372
esv5694 CNV loss 19470904
esv989075 CNV deletion 20482838
nsv1029193 CNV gain 25217958
nsv349546 CNV deletion 16902084
nsv472954 CNV novel sequence insertion 20440878
nsv474882 CNV novel sequence insertion 20440878
nsv475855 CNV novel sequence insertion 20440878
nsv477117 CNV novel sequence insertion 20440878
nsv507368 OTHER sequence alteration 20534489
nsv517009 CNV loss 19592680
nsv519010 CNV loss 19592680
nsv521296 CNV loss 19592680
nsv604890 CNV gain 21841781
nsv830844 CNV gain 17160897
nsv830845 CNV loss 17160897
nsv955792 CNV deletion 24416366

Variation tolerance for ESR1 Gene

Residual Variation Intolerance Score: 17.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.66; 45.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ESR1 Gene

Human Gene Mutation Database (HGMD)
ESR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ESR1
Leiden Open Variation Database (LOVD)
ESR1

SNP Genotyping and Copy Number Assays for research

Disorders for ESR1 Gene

MalaCards: The human disease database

(235) MalaCards diseases for ESR1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
estrogen resistance
  • estrr
breast cancer
  • breast cancer, familial
arthrogryposis multiplex congenita 3, myogenic type
  • amc3
myocardial infarction
  • myocardial infarction, susceptibility to
migraine with or without aura 1
  • migraine with or without aura, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
Search ESR1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ESR1_HUMAN
  • Estrogen resistance (ESTRR) [MIM:615363]: A disorder characterized by partial or complete resistance to estrogens, in the presence of elevated estrogen serum levels. Clinical features include absence of the pubertal growth spurt, delayed bone maturation, unfused epiphyses, reduced bone mineral density, osteoporosis, continued growth into adulthood and very tall adult stature. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present. {ECO:0000269 PubMed:23841731, ECO:0000269 PubMed:27754803}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ESR1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ESR1: view

No data available for Genatlas for ESR1 Gene

Publications for ESR1 Gene

  1. Genetic variation in sex-steroid receptors and synthesizing enzymes and colorectal cancer risk in women. (PMID: 20148360) Lin J … Cook NR (Cancer causes & control : CCC 2010) 3 22 40
  2. Interaction between estrogens and androgen receptor genes microsatellites, prostate-specific antigen and androgen receptor expressions in breast cancer. (PMID: 20353269) Narita D … Ursoniu S (Neoplasma 2010) 3 22 40
  3. Combined genetic effect of CDK7 and ESR1 polymorphisms on breast cancer. (PMID: 19941161) Jeon S … Kang D (Breast cancer research and treatment 2010) 3 22 40
  4. Pharmacogenetic risk factors for altered bone mineral density and body composition in pediatric acute lymphoblastic leukemia. (PMID: 20015871) te Winkel ML … van den Heuvel-Eibrink MM (Haematologica 2010) 3 22 40
  5. Role of genetic polymorphism of estrogen receptor-alpha gene and risk of prostate cancer in north Indian population. (PMID: 19904497) Gupta L … Singh SK (Molecular and cellular biochemistry 2010) 3 22 40

ExternalLinks

View latest publications for ESR1 gene in Mastermind

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