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ESR1 Gene

protein-coding   GIFtS: 76
GCID: GC06P151988

Estrogen Receptor 1


(Previous symbol: ESR)
  See ESR1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Estrogen Receptor 11 2     ESTRR2 5
ESR1 2 3 5     ESRA2
Estradiol Receptor2 3     Era2
Nuclear Receptor Subfamily 3 Group A Member 12 3     Estrogen Nuclear Receptor Alpha2
ER2 3     Estrogen Receptor2
ER-alpha2 3     Estrogen Receptor Alpha E1-E2-1-22
NR3A12 3     Estrogen Receptor Alpha E1-N2-E2-1-22

External Ids:    HGNC: 34671   Entrez Gene: 20992   Ensembl: ENSG000000918317   OMIM: 1334305   UniProtKB: P033723   

Export aliases for ESR1 gene to outside databases

Previous GC identifers: GC06P151689 GC06P152023 GC06P152159 GC06P152220 GC06P149573 GC06P151978 GC06P151980 GC06P151985


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ESR1 Gene:
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)

GeneCards Summary for ESR1 Gene:
ESR1 (estrogen receptor 1) is a protein-coding gene. Diseases associated with ESR1 include atherosclerosis, and hdl response to hormone replacement, augmented. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is NR4A3.

UniProtKB/Swiss-Prot: ESR1_HUMAN, P03372
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. Isoform 3 can bind to
ERE and inhibit isoform 1

summary for ESR1 Gene:
Estrogen controls many cellular processes including growth, differentiation and function of the reproductive
system. In females, estrogen's main targets are the ovaries, uterus, vagina and mammary glands. In the male,
target organs are the testes, prostate and epididymis. Estrogen is also responsible for the growth and
maintenance of the skeleton and the normal functioning of the cardiovascular and nervous systems. Estrogen
exerts most of its actions via estrogen receptors (ER). Estrogen receptors are ligand-activated
transcription factors belonging to the nuclear hormone receptor superfamily. Today, two estrogen receptors
are known, ERalpha and ERbeta. ERalpha protein is highly homologous to ERbeta protein, especially in the DNA
and ligand binding domains, although divergence exists in the N-terminal transactivation domain. Both
receptors interact with the same DNA response element and show a similar ligand binding profile. Upon ligand
binding estrogen receptors undergo a conformational change allowing spontaneous dimerization to form either
homo- or heterodimers. As a dimer, the estrogen receptor binds to the estrogen response element (ERE) in the
promoter region of target genes. ERalpha and ERbeta which are present in a broad spectrum of tissues.

Gene Wiki entry for ESR1 (Estrogen receptor alpha) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ESR1 gene promoter:
         TBP   AhR   HFH-1   E4BP4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): ESR1 promoter sequence
   Search Chromatin IP Primers for ESR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ESR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q25.1   Ensembl cytogenetic band:  6q25.1   HGNC cytogenetic band: 6q24-q27

ESR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ESR1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P151988:  view genomic region     (about GC identifiers)

Start:
151,977,826 bp from pter      End:
152,450,754 bp from pter
Size:
472,929 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ESR1_HUMAN, P03372 (See protein sequence)
Recommended Name: Estrogen receptor  
Size: 595 amino acids; 66216 Da
Subunit: 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 DYX1C1. 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 ESE1 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
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
Selected PDB 3D structures from and Proteopedia for ESR1 (see all 95):
1A52 (3D)        1AKF (3D)        1ERE (3D)        1ERR (3D)        1G50 (3D)        1GWQ (3D)    
Secondary accessions: Q13511 Q14276 Q5T5H7 Q6MZQ9 Q9NU51 Q9UDZ7 Q9UIS7
Alternative promoter usage, Alternative splicing: 4 isoforms:  P03372-1   P03372-2   P03372-3   P03372-4   (Produced by alternative splicing of isoform 3)

Explore the universe of human proteins at neXtProt for ESR1: NX_P03372

Explore proteomics data for ESR1 at MOPED

Post-translational modifications: 

  • 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
    activity1
  • Glycosylated; contains N-acetylglucosamine, probably O-linked1
  • Ubiquitinated. Deubiquitinated by OTUB11
  • Dimethylated by PRMT1 at Arg-260. The methylation may favor cytoplasmic localization1
  • Palmitoylated (isoform 3). Not biotinylated (isoform 3)1
  • 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 receptor1
  • Glycosylation2 at Ser10
  • Modification sites at PhosphoSitePlus

  • See ESR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_000116.2  NP_001116212.1  NP_001116213.1  NP_001116214.1  NP_001278159.1  NP_001278170.1  

    ENSEMBL proteins: 
     ENSP00000385373   ENSP00000342630   ENSP00000411105   ENSP00000206249   ENSP00000384064  
     ENSP00000394721   ENSP00000401995   ENSP00000405330   ENSP00000415934   ENSP00000387500  
    Reactome Protein details: P03372

    ESR1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for ESR1
    OriGene Protein Over-expression Lysate for ESR1
    OriGene MassSpec for ESR1
    OriGene Custom Protein Services for ESR1
    GenScript Custom Purified and Recombinant Proteins Services for ESR1
    Novus Biologicals ESR1 Proteins
    Novus Biologicals ESR1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for ESR1
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for ESR1 

    ESR1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ESR1
    R&D Systems Antibodies for ESR1 (ER alpha/NR3A1)
    Cell Signaling Technology (CST) Antibodies for ESR1  (ER-alpha)
    OriGene Antibodies for ESR1
    OriGene Custom Antibody Services for ESR1
    Novus Biologicals ESR1 Antibodies
    Abcam antibodies for ESR1
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for ESR1
    LSBio Antibodies in human, mouse, rat for ESR1

    ESR1 Assay Products:

    EMD Millipore Kits and Assays for the Analysis of ESR1
    OriGene Custom Assay Services for ESR1
    R&D Systems ELISAs for ESR1 (ER alpha/NR3A1)
    GenScript Custom Assay Services for ESR1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for ESR1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    NR: Nuclear hormone receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: Estrogen receptor-alpha
    3A. Estrogen receptors

    Selected InterPro protein domains (see all 8):
     IPR008946 Nucl_hormone_rcpt_ligand-bd
     IPR001292 Oestr_rcpt
     IPR001723 Str_hrmn_rcpt
     IPR024178 Oest_rcpt/oest-rel_rcp
     IPR013088 Znf_NHR/GATA

    Graphical View of Domain Structure for InterPro Entry P03372

    ProtoNet protein and cluster: P03372

    2 Blocks protein domains:
    IPB001292 Oestrogen receptor signature
    IPB001723 Steroid hormone receptor signature


    UniProtKB/Swiss-Prot: ESR1_HUMAN, P03372
    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
    Similarity: Belongs to the nuclear hormone receptor family. NR3 subfamily
    Similarity: Contains 1 nuclear receptor DNA-binding domain


    Find genes that share domains with ESR1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ESR1_HUMAN, P03372
    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. Isoform 3 can bind to
    ERE and inhibit isoform 1

         Genatlas biochemistry entry for ESR1:
    estrogen receptor 1 alpha,steroid/thyroid hormone receptor superfamily,coactivated by PPARBP

         Gene Ontology (GO): Selected molecular function terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001046core promoter sequence-specific DNA binding IDA15345745
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity NAS12552091
    GO:0003707steroid hormone receptor activity TAS10749889
         
    Find genes that share ontologies with ESR1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for ESR1:
     Increased cell death in breast  Increased cell number in G1, s 

         Selected MGI mutant phenotypes (inferred from 25 alleles(MGI details for Esr1) (see all 23):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  liver/biliary system  mortality/aging 

    Find genes that share phenotypes with ESR1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ESR1: Esr1tm1.1Mma Esr1tm1.1Rake Esr1tm1.1Pws Esr1tm4.2Ksk Esr1tm1.1Awo Esr1tm1.1Gust
                                                         Esr1tm1Ksk

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ESR1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ESR1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ESR1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ESR1

    Transcription Factor Targeting: 
    Selected GeneGlobe predicted Target genes for ESR1 (see all 519):
    A3GALT2,  ACPP,  ADAM6,  ADAMTS15,  ADM2,  AGA,  AK2,  AKAP2,  AKNA,  ALKBH1

    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  AAGGTCACNGTGACC 

    miRNA
    Products:
        
    miRTarBase miRNAs that target ESR1:
    hsa-mir-20b-5p (MIRT004313), hsa-mir-29b-3p (MIRT004308), hsa-mir-222-3p (MIRT005321), hsa-mir-18a-5p (MIRT000703), hsa-mir-19b-3p (MIRT004309), hsa-mir-221-3p (MIRT005320), hsa-mir-22-3p (MIRT002474), hsa-mir-26a-5p (MIRT006389), hsa-mir-206 (MIRT000700), hsa-mir-193b-3p (MIRT000701), hsa-mir-130a-3p (MIRT006356), hsa-mir-19a-3p (MIRT003214), hsa-mir-302c-3p (MIRT000699), hsa-mir-18b-5p (MIRT000702)

    Block miRNA regulation of human, mouse, rat ESR1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ESR1 (see all 94):
    hsa-miR-520e hsa-miR-520f hsa-miR-300 hsa-miR-188-5p hsa-miR-219-5p hsa-miR-632 hsa-miR-759 hsa-miR-3122
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ESR1
    Predesigned siRNA for gene silencing in human, mouse, rat ESR1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ESR1

    Clone
    Products:
         
    OriGene clones in human, mouse for ESR1 (see all 24)
    OriGene ORF clones in mouse, rat for ESR1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): ESR1 (NM_000125)
    Sino Biological Human cDNA Clone for ESR1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ESR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ESR1
    Addgene plasmids for ESR1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ESR1
    Browse ESI BIO Cell Lines and PureStem Progenitors for ESR1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ESR1

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-11503 VA4-11581 VA6-13257) for ESR1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ESR1_HUMAN, P03372: Isoform 1: Nucleus. Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side.
    Note=A minor fraction is associated with the inner membrane
    ESR1_HUMAN, P03372: 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
    ESR1_HUMAN, P03372: 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: 

    CompartmentConfidence
    golgi apparatus5
    nucleus5
    plasma membrane5
    cytoskeleton3
    cytosol3
    extracellular3
    endoplasmic reticulum2
    endosome2
    mitochondrion2
    peroxisome2
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA15569929
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm ----
    GO:0005794Golgi apparatus IEA--
    GO:0005886plasma membrane IDA15569929

    Find genes that share ontologies with ESR1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ESR1 About   (see all 38)  
    See pathways by source

    SuperPathContained pathways About
    1Nuclear Receptor transcription pathway
    Nuclear Receptor transcription pathway0.67
    Nuclear Receptors0.67
    2Prolactin Signaling Pathway
    Leptin signaling pathway0.35
    Prolactin signaling pathway0.33
    3Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40
    4Transcription Ligand dependent activation of the ESR1 SP pathway
    Transcription Ligand dependent activation of the ESR1 SP pathway0.37
    Development Ligand dependent activation of the ESR1 AP 1 pathway0.37
    5Development VEGF signaling and activation
    Development VEGF signaling and activation0.75


    Find genes that share SuperPaths with ESR1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for ESR1
        TGF-beta Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ESR1 (see all 7)
        AHR Pathway
    ERK Signaling
    Estrogen-mediated S-Phase Entry
    eNOS Signaling
    Estrogen Pathway

    Selected GeneGo (Thomson Reuters) Pathways for ESR1 (see all 7)
        Development Ligand-independent activation of ESR1 and ESR2
    Transcription Ligand-dependent activation of the ESR1/SP pathway
    Cell cycle ESR1 regulation of G1/S transition
    Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1
    Apoptosis and survival Anti-apoptotic action of nuclear ESR1 and ESR2

    Selected BioSystems Pathways for ESR1 (see all 14)
        Nuclear Receptors
    Estrogen signaling pathway
    Integrated Breast Cancer Pathway
    TGF-beta Receptor Signaling Pathway
    Integrated Pancreatic Cancer Pathway


    2 Reactome Pathways for ESR1
        Nuclear Receptor transcription pathway
    Nuclear signaling by ERBB4

    1 PharmGKB Pathway for ESR1
        Aromatase Inhibitor Pathway (Breast Cell), Pharmacodynamics

    5 Kegg Pathways  (Kegg details for ESR1):
        Estrogen signaling pathway
    Prolactin signaling pathway
    Thyroid hormone signaling pathway
    Endocrine and other factor-regulated calcium reabsorption
    Proteoglycans in cancer

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ESR1 (see all 13): 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Autophagy in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat
              Cancer Drug Targets in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ESR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ESR1 (P033721, 2, 3 ENSP000002062494) via UniProtKB, MINT, STRING, and/or I2D (see all 756)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000243594P280652, 3, ENSP000003727214MINT-3291999 I2D: score=1 STRING: ENSP00000372721
    ENSG00000237724P081073, ENSP000004063594I2D: score=1 STRING: ENSP00000406359
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 38):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001547antral ovarian follicle growth IEA--
    GO:0002064epithelial cell development IEA--
    GO:0006338chromatin remodeling NAS12351687
    GO:0006351transcription, DNA-templated TAS2040605
    GO:0006355regulation of transcription, DNA-templated NAS3753802

    Find genes that share ontologies with ESR1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for ESR1
      Browse compounds at ApexBio 

    Compounds for ESR1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    (Z)-4-HydroxytamoxifenMetabolite of tamoxifen (Cat. No. 0999)[68047-06-3]
    ICI 182,780 Estrogen receptor antagonist[129453-61-8]
    DPNHighly potent ERbeta agonist[1428-67-7]
    PPTSubtype-selective ERalpha agonist[263717-53-9]
    PHTPPSelective ERbeta antagonist[805239-56-9]

    6 HMDB Compounds for ESR1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Danazol(17a)-Pregna-2,4-dien-20-yno[2,3-d]isoxazol-17-ol (see all 16)17230-88-5--
    Estradiol(+)-3,17b-Estradiol (see all 83)50-28-2--
    Estriol13b-Methyl-1,3,5(10)-gonatriene-3,16a,17b-triol (see all 50)50-27-1--
    Estrone(+)-Estrone (see all 7)53-16-7--
    Medroxyprogesterone17-Hydroxy-6a-methylprogesterone (see all 13)520-85-4--
    Progesterone17a-Progesterone (see all 114)57-83-0--

    Selected DrugBank Compounds for ESR1 (see all 60)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Toremifene-- 89778-26-7targetmodulator17503894 18279543 11752352 16917142 11747628 16595024 15369444 17062721 16503765 16515478 12870885
    ClomifeneChlomaphene (see all 11)911-45-5targetantagonist agonist19821295 20091498 15878925 18320435 19761360 20379036 11752352 17055820 2011412
    Fulvestrant-- 129453-61-8targetantagonist20151846 12113237 15865850 15018596 11752352 12542403 12080538 11922402 11398912
    RaloxifeneLY-139481 (see all 6)84449-90-1targetagonist10418979 10376571 10485477 16951478 11752352 10068418 10477535 18778124 10507743
    Ethinyl Estradiol17 alpha-Ethinylestradiol (see all 17)57-63-6targetagonist19434891 17138652 17095591 17125913 17124377 11752352 19237207 17142999
    DienestrolDehydrostilbestrol (see all 4)84-17-3targetagonist9558716 15276617 9048584 3622377 18976723 11752352 3334987
    DiethylstilbestrolDES (see all 10)56-53-1targetagonist17320868 17314305 17306201 17317669 20387803 11752352 17308373
    Allylestrenol-- 432-60-0targetagonist17415709 17103262 17341305 17203775 17118173 8820988
    Conjugated EstrogensEstrogens (see all 10)438-67-5targetagonist16985877 16982590 16955786 16884174 16876190
    FluoxymesteroneAndrofluorene (see all 8)76-43-7targetantagonist8622076 7044524 3058238 10637238 16538529

    Selected IUPHAR Ligands for ESR1 (Estrogen receptor-alpha) (see all 12)    About this table
    LigandTypeActionAffinityPubmed IDs
    diethylstilbestrol
    AgonistAgonist10.49048584
    hexestrol
    AntagonistAntagonist10.39048584
    4-hydroxy?aetamoxifen
    AntagonistAntagonist9.859048584
    17beta-estradiol
    AgonistAgonist9.829048584
    PPT
    AgonistAgonist9.6411014206 11150164
    fulvestrant
    AntagonistAntagonist9.6--
    raloxifene
    AntagonistAntagonist9.59048584
    estriol
    AgonistAgonist8.679048584
    methyl-piperidino-pyrazole
    AntagonistAntagonist8.5711861516
    estrone
    AgonistAgonist8.59048584

    Selected Novoseek inferred chemical compound relationships for ESR1 gene (see all 125)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    estrogen 99 32377 10478843 (11), 19875957 (11), 8149515 (10), 11278648 (10) (see all 99)
    progesterone 95.6 5011 8633638 (6), 1947231 (6), 8745507 (5), 17535263 (5) (see all 99)
    tamoxifen 95.4 2547 8742702 (7), 7614468 (7), 16455819 (7), 16010412 (7) (see all 99)
    raloxifene 93.4 650 20083158 (5), 17299137 (4), 19059307 (4), 12904179 (3) (see all 99)
    estradiol 92.8 1896 10466435 (11), 9160720 (8), 18644889 (6), 17068199 (6) (see all 99)
    4-hydroxytamoxifen 92.4 310 9010327 (4), 18663360 (4), 1632645 (3), 9817599 (3) (see all 99)
    fulvestrant 91.4 414 16459337 (6), 15813510 (5), 19212635 (5), 19815064 (4) (see all 99)
    steroid 91 2190 8841503 (7), 1657132 (5), 2368630 (5), 10080679 (5) (see all 99)
    arzoxifene 82.5 27 15328178 (3), 19477949 (3), 15149724 (2), 15328166 (1) (see all 17)
    toremifene 82.2 75 1463871 (2), 8339385 (2), 12619932 (2), 1385761 (2) (see all 55)

    Selected PharmGKB related drug/compound annotations for ESR1 gene (see all 11)    About this table
    Drug/compound PharmGKB Annotation
    Alkylating AgentsCA  
    anastrozole  CA  
    cisplatinCA  
    conjugated estrogensCA  
    everolimus
    exemestane
    fulvestrant
    leflunomideCA  
    letrozole  CA  
    medroxyprogesteroneCA  



    Find genes that share compounds with ESR1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

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    REFSEQ mRNAs for ESR1 gene (6 alternative transcripts): 
    NM_000125.3  NM_001122740.1  NM_001122741.1  NM_001122742.1  NM_001291230.1  NM_001291241.1  

    Unigene Cluster for ESR1:

    Estrogen receptor 1
    Hs.208124  [show with all ESTs]
    Unigene Representative Sequence: NM_001122742
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000473497 ENST00000404742 ENST00000338799(uc021zgz.1 uc010kit.1)
    ENST00000446550 ENST00000206249(uc010kir.3 uc003qoo.4 uc010kiq.3)
    ENST00000406599 ENST00000488573 ENST00000427531 ENST00000415488 ENST00000482101
    ENST00000440973(uc021zgx.1 uc021zgy.1 uc003qom.4) ENST00000456483(uc011eeu.2 uc011eev.2 uc011eew.2 uc011eet.2 uc010kis.3 uc021zha.1)
    ENST00000443427(uc010kin.3 uc010kio.3 uc010kip.3 uc003qon.4 uc011eex.2 uc011eey.2)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ESR1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ESR1 (see all 94):
    hsa-miR-520e hsa-miR-520f hsa-miR-300 hsa-miR-188-5p hsa-miR-219-5p hsa-miR-632 hsa-miR-759 hsa-miR-3122
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ESR1
    Predesigned siRNA for gene silencing in human, mouse, rat ESR1
    Clone
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    OriGene clones in human, mouse for ESR1 (see all 24)
    OriGene ORF clones in mouse, rat for ESR1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): ESR1 (NM_000125)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ESR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ESR1
    Addgene plasmids for ESR1 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ESR1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ESR1
      QuantiTect SYBR Green Assays in human, mouse, rat ESR1
      Search QuantiFast Probe-based Assays in human, mouse, rat ESR1
    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-11503 VA4-11581 VA6-13257) for ESR1 

    Additional mRNA sequence: 

    AB307713.1 AB588629.1 AB588630.1 AB685814.1 AB685815.1 AB685817.1 AB685818.1 AB685819.1 
    AB685820.1 AF120105.1 AF258449.1 AF258450.1 AF258451.1 AK293019.1 AK304600.1 AK304833.1 
    AK309580.1 AK311064.1 AK313644.1 AY750962.1 BC128573.1 BC128574.1 BX640939.1 DQ163909.1 
    EF491789.1 EU921455.1 EU982838.1 EU982839.1 EU982840.1 FJ011556.1 FJ011557.1 FJ011558.1 
    FJ011559.1 FJ011560.1 FJ147552.1 FJ147553.1 FJ147554.1 FJ147555.1 FJ147556.1 FJ147557.1 
    FJ147558.1 FJ169500.1 FJ169501.1 FJ169502.1 FJ169503.1 FJ169504.1 FJ668387.1 FJ712305.1 
    FJ712306.1 FJ712307.1 FJ716811.1 FJ716812.1 FJ716813.1 FJ716814.1 FJ716815.1 GQ366704.1 
    GQ389792.1 GQ411250.1 GQ411251.1 GQ411252.1 GQ411253.1 GQ411254.1 GQ411255.1 GQ411256.1 
    GQ411257.1 GQ411258.1 GQ438789.1 GQ438790.1 GQ438791.1 GQ438793.1 JF810888.1 M12674.1 
    M69297.1 S80316.1 U47678.1 U68067.1 U68068.1 X03635.1 X73067.1 X74439.1 
    X86816.1 Z75126.1 

    7 DOTS entries:

    DT.95375749  DT.114164  DT.121384518  DT.100773916  DT.91992136  DT.95375747  DT.100667313 

    Selected AceView cDNA sequences (see all 108):

    AI274727 AA299347 AI370308 AI654018 AA291749 AI673252 U68068 AI524356 
    CA435528 AI888116 AW440601 AW438839 AW591562 AI910598 AI565481 AI654044 
    AI888281 AA164586 AI669577 X86816 AI675862 AW951857 AI202659 AW473925 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ESR1    About this scheme

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


    ECgene alternative splicing isoforms for ESR1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ESR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCAGGTGCC
    ESR1 Expression
    About this image


    ESR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Theca Cells Antral Follicle
             Oviduct
     
     Kidney (Urinary System)
             Metanephros
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Eye (Sensory Organs)
             Lens
     
     Neural Tube (Nervous System)
             Metencephalon
    ESR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ESR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.208124

    UniProtKB/Swiss-Prot: ESR1_HUMAN, P03372
    Tissue specificity: Widely expressed. Isoform 3 is not expressed in the pituitary gland

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ESR1 (see all 13): 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Autophagy in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat
              Cancer Drug Targets in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ESR1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ESR1
    QuantiTect SYBR Green Assays in human, mouse, rat ESR1
    Search QuantiFast Probe-based Assays in human, mouse, rat ESR1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ESR1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ESR1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Esr11 , 5 estrogen receptor 1 (alpha)1, 5 85.6(n)1
    88.91(a)1
      10 (2.03 cM)5
    139821  NM_007956.41  NP_031982.11 
     46115935 
    chicken
    (Gallus gallus)
    Aves ESR11 estrogen receptor 1 75.95(n)
    79.55(a)
      396099  NM_205183.2  NP_990514.1 
    lizard
    (Anolis carolinensis)
    Reptilia ESR16
    estrogen receptor 1
    71(a)
    1 ↔ 1
    GL343259.1(1338818-1578780)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3987342 estrogen receptor alpha 1 74.81(n)    L20735.1 
    zebrafish
    (Danio rerio)
    Actinopterygii esr11 estrogen receptor 1 62.36(n)
    60.78(a)
      259252  NM_152959.1  NP_694491.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ERR6
    estrogen-related receptor
    25(a)
    1 → many
    3L(8176461-8179771)


    ENSEMBL Gene Tree for ESR1 (if available)
    TreeFam Gene Tree for ESR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ESR1 gene
    NR4A32  ESRRA2  NR3C22  NR4A12  PGR2  ESR22  NR3C12  AR2  
    NR4A22  ESRRB2  ESRRG2  
    Selected SIMAP similar genes for ESR1 using alignment to 62 protein entries:     ESR1_HUMAN (see all proteins) (see all similar genes):
    estrogen receptor    ESR2    NR2A2    NR3A1    ESRRA    THRA
    PR    HNF4alpha    NR2F6    DKFZp761C0417    NR1B1    NR1B3
    PML-RAR    ESRRB    ERRgamma    NR2A1    NR2A3    ESRRG

    Find genes that share paralogs with ESR1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    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, disrutption 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


    Selected SNPs for ESR1 (see all 8334)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1399609131,2,,4
    C,FA breast cancer sample4 --152128019(+) CCCTCC/TACACC 8 H Y mis12Minor allele frequency- T:0.00NA EU 5765
    VAR_0330294
    A breast cancer sample4--see VAR_0330292 M I mis40--------
    VAR_0700724
    Estrogen resistance (ESTRR)4--see VAR_0700722 Q H mis40--------
    VAR_0046724
    Estrogen resistance (ESTRR)4--see VAR_0046722 V E mis40--------
    rs1048939561,2
    Cpathogenic1152162697(+) ATAATC/TGACGC 8 R * stg10--------
    rs351294081,2
    C--149576801(+) CTTCC-/CTT   
      C
    /TTCC
    ATCAT
    1 -- int11NA 2
    rs345358041,2
    F--149687413(+) CCCNNG/AAGTGA 2 -- int1 us2k15Minor allele frequency- A:0.19MN 176
    rs359038301,2
    C,F--149687413(+) AGCCCAA/-RAGTG 2 -- int1 us2k16Minor allele frequency- -:0.50MN NA 178
    rs1490911671,2
    C--149706686(+) CTACA-/ATGAC 
            
    ATTGC
    4 -- int10--------
    rs354517221,2
    C,F--149714110(+) AGACA-/GTTTTT 4 -- int16Minor allele frequency- G:0.16MN CSA 246

    HapMap Linkage Disequilibrium report for ESR1 (151977826 - 152227826 bp, first 250kb of ESR1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ESR1 (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2732904CNV Deletion23290073
    esv3558CNV Deletion18987735
    esv2673247CNV Deletion23128226
    esv2553510CNV Deletion19546169
    esv1932842CNV Deletion18987734
    esv1599352CNV Deletion17803354
    esv989075CNV Deletion20482838
    nsv507368CNV Insertion20534489
    nsv519010CNV Loss19592680
    esv25879CNV Loss19812545

    Human Gene Mutation Database (HGMD): ESR1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ESR1
    DNA2.0 Custom Variant and Variant Library Synthesis for ESR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 133430   
    OMIM disorders: 615363  157300  608446  114480  
    UniProtKB/Swiss-Prot: ESR1_HUMAN, P03372
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for ESR1 (see all 59):    
    About MalaCards
    atherosclerosis    hdl response to hormone replacement, augmented    vulvar syringoma    estrogen resistance
    trigeminal autonomic cephalalgia    migraine    trigonitis    progesterone resistance
    progesterone-receptor positive breast cancer    skin tag    glassy cell carcinoma of the cervix    uterine disease
    catamenial pneumothorax    intravenous leiomyomatosis    endometrial carcinoma    leiomyoma
    sebaceous adenoma    leiomyomatosis    syringoma    breast disease

    15 diseases from the University of Copenhagen DISEASES database for ESR1:
    Breast cancer     Osteoporosis     Endometrial cancer     Ductal carcinoma in situ
    Carcinoma     Endometriosis     Ovarian cancer     Uterine fibroid
    Leiomyoma     Prostate cancer     Breast disease     Vascular disease
    Infertility     Breast fibroadenoma     Ovarian disease

    Find genes that share disorders with ESR1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ESR1 gene (see all 95)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 96.1 7291 15709176 (8), 15777504 (7), 12790328 (7), 18056179 (7) (see all 99)
    breast carcinoma 91.1 829 11478269 (6), 17415810 (6), 15363297 (5), 15301464 (4) (see all 99)
    carcinoma ductal 86.5 155 10690532 (2), 11758715 (2), 17522367 (2), 17940078 (2) (see all 99)
    tumors 85.8 5398 15248927 (10), 11042568 (9), 15823713 (8), 7515390 (7) (see all 99)
    endometrial carcinoma 81.7 340 18720455 (7), 15573770 (5), 14674143 (4), 15600187 (4) (see all 99)
    endometrial cancer 81.4 277 19438492 (4), 16809439 (4), 11081689 (4), 19319135 (4) (see all 99)
    cancer 77.1 785 18085520 (5), 18383260 (4), 15823713 (4), 20146809 (4) (see all 99)
    osteoporosis 77 259 15807179 (3), 10731921 (3), 10914844 (2), 11207873 (2) (see all 99)
    carcinoma lobular 74.7 24 11028811 (2), 19309393 (2), 8291222 (1), 1322387 (1) (see all 18)
    carcinoma 74.7 551 15637090 (7), 17017191 (6), 10022453 (6), 17448017 (4) (see all 99)

    Genetic Association Database (GAD): ESR1
    Human Genome Epidemiology (HuGE) Navigator: ESR1 (634 documents)
    Tumor Gene Database (TGDB): ESR1

    Export disorders for ESR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ESR1 gene, integrated from 10 sources (see all 6909):
    (articles sorted by number of sources associating them with ESR1)
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    1. Human oestrogen receptor cDNA: sequence, expression and homology to v-erb-A. (PubMed id 3754034)1, 2, 3 Green S....Chambon P. (Nature 1986)
    2. Polymorphisms in ER-alpha gene interact with estrogen receptor status in breast cancer survival. (PubMed id 15709176)1, 4, 9 Boyapati S.M....Zheng W. (Clin. Cancer Res. 2005)
    3. A novel 80 kDa human estrogen receptor containing a duplication of exons 6 and 7. (PubMed id 8600466)1, 2, 9 Pink J.J.... Jordan V.C. (Nucleic Acids Res. 1996)
    4. OTU Domain-containing ubiquitin aldehyde-binding protein 1 (OTUB1) deubiquitinates estrogen receptor (ER) alpha and affects ERalpha transcriptional activity. (PubMed id 19383985)1, 2, 9 Stanisic V.... O'Malley B.W. (J. Biol. Chem. 2009)
    5. Estrogen receptor polymorphisms and the risk of endometrial cancer. (PubMed id 19438492)1, 4, 9 Ashton K.A....Scott R.J. (BJOG 2009)
    6. Estrogen receptor alpha gene polymorphism and breast cancer. (PubMed id 18837889)1, 4, 9 Siddig A....Adem A. (Ann. N. Y. Acad. Sci. 2008)
    7. Genotypes of vitamin D and estrogen receptors in pre and perimenopausal women from Cordoba, Argentina. (PubMed id 17408018)1, 4, 9 Ulla M....Tolosa de Talamoni N. (Medicina (B Aires) 2007)
    8. [The XbaI and PvuII gene polymorphisms of the estrogen receptor alpha gene in Chinese women with breast cancer]. (PubMed id 15842934)1, 4, 9 Lu X....Hua B. (Zhonghua Wai Ke Za Zhi 2005)
    9. Polymorphisms of estrogen receptor alpha in prostate cancer. (PubMed id 12891629)1, 4, 9 Tanaka Y....Dahiya R. (Mol. Carcinog. 2003)
    10. Estradiol and phorbol ester cause phosphorylation of serine 118 in the human estrogen receptor. (PubMed id 7476978)1, 2, 9 Joel P.B.... Lannigan D.A. (Mol. Endocrinol. 1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2099 HGNC: 3467 AceView: ESR1 Ensembl:ENSG00000091831 euGenes: HUgn2099
    ECgene: ESR1 Kegg: 2099 H-InvDB: ESR1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ESR1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ESR1 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/esr1/
    Wikipedia http://en.wikipedia.org/wiki/Estrogen_receptor

    (Patent information from GeneIP,
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    Patent Information for ESR1 gene:
    Search GeneIP for patents involving ESR1

    GeneCards and IP:
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