Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ESR1 Gene

protein-coding   GIFtS: 75
GCID: GC06P151985

Estrogen Receptor 1


(Previous symbol: ESR)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
Estrogen Receptor 11 2     Estrogen Nuclear Receptor Alpha2
ESR1 2 3 5     Estrogen Receptor2
Estradiol Receptor2 3     Estrogen Receptor Alpha 3*,4,5,6,7*/822 Isoform2
Nuclear Receptor Subfamily 3 Group A Member 12 3     Estrogen Receptor Alpha Delta 3*,4,5,6,7*,8*/941 Isoform2
ER2 3     Estrogen Receptor Alpha Delta 3*,4,5,6,7*/819-2 Isoform2
ER-alpha2 3     Estrogen Receptor Alpha Delta 4 +49 Isoform2
NR3A12 3     Estrogen Receptor Alpha Delta 4*,5,6,7*/654 Isoform2
ESRA2     Estrogen Receptor Alpha Delta 4*,5,6,7,8*/901 Isoform2
ESTRR2     Estrogen Receptor Alpha E1-E2-1-22
Era2     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


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 splicing results in several transcript variants, which differ in their 5' UTRs and use
different promoters. (provided by RefSeq, Jul 2008)

GeneCards Summary for ESR1 Gene: 
ESR1 (estrogen receptor 1) is a protein-coding gene. Diseases associated with ESR1 include estrogen resistance syndrome, and uterine disease, and among its related super-pathways are Nuclear Receptors and Development Prolactin receptor signaling. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ESRRA.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_025741.15  NC_018917.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ESR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC06P151985:  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Isoform 1: Nucleus. Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side.
Note=A minor fraction is associated with the inner membrane
Subcellular location: 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
Subcellular location: 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
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
6/95 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:

  • UniProtKB: Phosphorylated by cyclin A/CDK2 and CK1. Phosphorylation probably enhances transcriptional activity.
    Self-association induces phosphorylation
  • UniProtKB: Glycosylated; contains N-acetylglucosamine, probably O-linked
  • UniProtKB: Ubiquitinated. Deubiquitinated by OTUB1
  • UniProtKB: Dimethylated by PRMT1 at Arg-260. The methylation may favor cytoplasmic localization
  • UniProtKB: Palmitoylated (isoform 3). Not biotinylated (isoform 3)
  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P03372

  • ESR1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ESR1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_000116.2  NP_001116212.1  NP_001116213.1  NP_001116214.1  

    ENSEMBL proteins: 
     ENSP00000385373   ENSP00000342630   ENSP00000411105   ENSP00000206249   ENSP00000384064  
     ENSP00000394721   ENSP00000401995   ENSP00000405330   ENSP00000415934   ENSP00000387500  
     ENSP00000445454  
    Reactome Protein details: P03372
    Human Recombinant Protein Products for ESR1: 
    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 Protein 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. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (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

    ESR1 for ontologies           About GeneDecksing



    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
    GenScript Superior Antibodies 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 

    Assay Products for ESR1: 
    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.


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

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

    5/8 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


    ESR1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/18 molecular function terms (GO ID links to tree view) (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
         
    ESR1 for ontologies           About GeneDecksing


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

         15/23 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  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  liver/biliary system  mortality/aging 

    ESR1 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ESR1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

    10/530 SABiosciences Target genes for ESR1 (see all 530):
    A3GALT2 ACPP ADAM6 ADAMTS15 ADM2 AGA AK2 AKAP2 AKNA ALKBH1

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

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ESR1
    8/94 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ESR1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ESR1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ESR1
    Sirion Biotech Customized adenovirus for overexpression of ESR1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ESR1 (see all 21)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of ESR1 
                         Customized lentivirus expression plasmids for stable overexpression of ESR1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ESR1
    Search LifeMap BioReagents cell lines for ESR1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ESR1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ESR1 About   (see all 37)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Nuclear Receptor transcription pathway
    Nuclear Receptor transcription pathway0.68
    Nuclear Receptors0.68
    2Development Prolactin receptor signaling
    Leptin signaling pathway0.35
    Prolactin signaling pathway0.33
    3Generic Transcription Pathway
    Gene Expression0.47
    Generic Transcription Pathway0.47
    4Development Ligand-dependent activation of the ESR1/AP-1 pathway
    Development Ligand-dependent activation of the ESR1/AP-1 pathway0.37
    Transcription Ligand-dependent activation of the ESR1/SP pathway0.37
    5Development VEGF signaling via VEGFR2 - generic cascades
    Development VEGF signaling and activation0.75

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/8 EMD Millipore Pathways for ESR1 (see all 8)
        Development VEGF signaling and activation
    Selected targets of ESR1
    Development Ligand-independent activation of ESR1 and ESR2
    Transcription Ligand-dependent activation of the ESR1/SP pathway
    Apoptosis and survival Anti-apoptotic action of nuclear ESR1 and ESR2

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

    5/7 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ESR1 (see all 7)
        AHR Pathway
    ERK Signaling
    Estrogen-mediated S-Phase Entry
    eNOS Signaling
    Estrogen Pathway

    5/7 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

    5/14 BioSystems Pathways for ESR1 (see all 14)
        Estrogen signaling pathway
    Nuclear Receptors
    Integrated Breast Cancer Pathway
    TGF-beta Receptor Signaling Pathway
    Leptin signaling pathway


    5/6        Reactome Pathways for ESR1 (see all 6)
        Generic Transcription Pathway
    Nuclear Receptor transcription pathway
    Signal Transduction
    Gene Expression
    Signaling by ERBB4

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

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


    ESR1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ESR1

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

    5/751 Interacting proteins for ESR1 (P033721, 2, 3 ENSP000002062494) via UniProtKB, MINT, STRING, and/or I2D (see all 751)
    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): 5/38 biological process terms (GO ID links to tree view) (see all 38):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001547antral ovarian follicle growth IEA--
    GO:0002064epithelial cell development IEA--
    GO:0006351transcription, DNA-dependent TAS2040605
    GO:0006355regulation of transcription, DNA-dependent NAS3753802
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--

    ESR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ESR1 for compounds           About GeneDecksing

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

    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--

    10/60 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

    10/12 IUPHAR Ligands for ESR1 (Estrogen receptor-&alpha) (see all 12)    About this table 
    LigandTypeActionAffinityPubmed IDs
    diethylstilbestrol
    Agonist10.49048584
    hexestrol
    AntagonistAntagonist10.39048584
    4-hydroxy?àëtamoxifen
    AntagonistAntagonist9.859048584
    17β-estradiol
    AgonistAgonist9.829048584
    PPT
    AgonistAgonist9.6411014206 11150164
    fulvestrant
    AntagonistAntagonist9.6--
    raloxifene
    AntagonistAntagonist9.59048584
    estriol
    AgonistAgonist8.679048584
    methyl-piperidino-pyrazole
    AntagonistAntagonist8.5711861516
    estrone
    AgonistAgonist8.59048584

    10/125 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)

    7 PharmGKB related drug/compound annotations for ESR1 gene    About this table
    Drug/compound PharmGKB Annotation
    conjugated estrogensCA  
    exemestane
    fulvestrant
    leflunomideCA  
    letrozole
    medroxyprogesteroneCA  
    tamoxifen  CA  

    Search CenterWatch for drugs/clinical trials and news about ESR1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ESR1 gene (4 alternative transcripts): 
    NM_000125.3  NM_001122740.1  NM_001122741.1  NM_001122742.1  

    Unigene Cluster for ESR1:

    Estrogen receptor 1
    Hs.208124  [show with all ESTs]
    Unigene Representative Sequence: NM_001122742
    14 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)
    ENST00000544394
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ESR1
    8/94 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ESR1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ESR1
    Clone
    Products:
         
    OriGene clones in human, mouse for ESR1 (see all 21)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of ESR1 
                         Customized lentivirus expression plasmids for stable overexpression of ESR1 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ESR1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ESR1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ESR1
      Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat 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 

    24/108 AceView cDNA sequences (see all 108):

    AW514102 AI202659 BX472142 AI673252 BX472164 U68068 U68067 AW591562 
    AI654018 AW951857 AA164585 X86816 AI073549 AW193584 AI888281 AI784397 
    CA435528 AW438839 AW440601 AI910598 AI565481 AI370308 AI888116 AI654044 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ESR1 expression in normal human tissues (normalized intensities)      ESR1 embryonic expression: see
    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 
     5/18 selected tissues (see all 18) fully expand
     
     Uterus (Reproductive System)    fully expand to see all 7 entries
             uterus, post-menopause ; glandular cells   
             Uterus Corpus   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Medulla Oblongata
             ganglion/cranial   
     
     Breast (Uncategorized)    fully expand to see all 2 entries
             breast ; glandular cells   
             breast lobular cells   
     
     Epithelium (Reproductive System)    fully expand to see all 2 entries
             vagina ; squamous epithelial cells   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   

    See ESR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ESR1

    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

        SABiosciences Expression via Pathway-Focused 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
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for ESR1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ESR1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ESR1
    Search QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ESR1 gene from 7/15 species (see all 15)    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 86.05(n)1
    89.58(a)1
      10 (2.03 cM)5
    139821  NM_007956.41  NP_031982.11 
     46115935 
    chicken
    (Gallus gallus)
    Aves ESR11 estrogen receptor 1 76(n)
    79.55(a)
      396099  NM_205183.1  NP_990514.1 
    lizard
    (Anolis carolinensis)
    Reptilia ESR16
    Estrogen receptor
    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 60.46(n)
    58.24(a)
      259252  NM_152959.1  NP_694491.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hr836
    Hr786
    Hormone-receptor-like in 78
    23(a)
    12(a)
    possible ortholog
    possible ortholog
    3R(2174965-2176234)
    3L(21487119-21490594)
    worm
    (Caenorhabditis elegans)
    Secernentea nhr-2366
    nhr-2396
    (see all 6)
    Protein NHR-239
    (see all 6)
    24(a)
    21(a)
    (see all 6)
    possible ortholog
    many ↔ many
    (see all 6)
    IV(2327126-2329640)
    III(2561710-2566589)


    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)
    About This Section
    Paralogs for ESR1 gene
    ESRRA2  NR3C22  PGR2  ESR22  NR3C12  AR2  ESRRB2  ESRRG2  
    18/61 SIMAP similar genes for ESR1 using alignment to 63 protein entries:     ESR1_HUMAN (see all proteins) (see all similar genes):
    estrogen receptor    ESR2    NR2A2    NR3A1    THRA    PR
    ESRRA    HNF4alpha    NR2F6    DKFZp761C0417    NR1B1    NR1B3
    PML-RAR    NR2A1    NR2A3    ESRRB    ERRgamma    NR5A2

    ESR1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: ESR1_HUMAN, P03372
    Polymorphism: 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


    10/8333 SNPs in ESR1 are shown (see all 8333)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0330294
    A breast cancer sample4--see VAR_0330292 M I mis40--------
    rs1399609131,2,4
    C,FA breast cancer sample4 --152128019(+) CCCTCC/TACACC 8 H Y mis12Minor allele frequency- T:0.00NA EU 5765
    rs1048939561,2
    Cpathogenic1152162697(+) ATAATC/TGACGC 8 R * stg10--------
    VAR_0046724
    ----see VAR_0046722 V E mis40--------
    VAR_0046734
    ----see VAR_0046732 G V mis40--------
    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) 10/18 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 133430   
    OMIM disorders: 157300  608446  
    20/299 diseases for ESR1 (see all 299):    About MalaCards
    estrogen resistance syndrome    uterine disease    endometrial carcinoma    progesterone resistance
    trigeminal autonomic cephalalgia    vulvar syringoma    leiomyoma    breast disease
    sebaceous adenoma    catamenial pneumothorax    glassy cell carcinoma of the cervix    intravenous leiomyomatosis
    trigonitis    cellular leiomyoma    leiomyomatosis    progesterone-receptor positive breast cancer
    hidradenocarcinoma    adenosarcoma    progesterone-receptor negative breast cancer    syringoma

    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

    ESR1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/95 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)
    About This Section

    PubMed articles for ESR1 gene, integrated from 9 sources (see all 6823):
    (articles sorted by number of sources associating them with ESR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human oestrogen receptor cDNA: sequence, expression and homology to v-erb-A. (PubMed id 3754034)1, 2, 3 Green S....Chambon P. (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. (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. (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. (2009)
    5. Estrogen receptor polymorphisms and the risk of endom etrial cancer. (PubMed id 19438492)1, 4, 9 Ashton K.A....Scott R.J. (2009)
    6. Estrogen receptor alpha gene polymorphism and breast cancer. (PubMed id 18837889)1, 4, 9 Siddig A....Adem A. (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....de Talamoni N.T. (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. (2005)
    9. Polymorphisms of estrogen receptor alpha in prostate cancer. (PubMed id 12891629)1, 4, 9 Tanaka Y....Dahiya R. (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. (1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2099 HGNC: 3467 AceView: ESR1 Ensembl:ENSG00000091831 euGenes: HUgn2099
    ECgene: ESR1 Kegg: 2099 H-InvDB: ESR1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ESR1 gene:
    Search GeneIP for patents involving ESR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     Browse for Gene Knock-down Tools from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse Small Molecules at EMD Millipore
     EMD Millipore Kits and Assays for the Analysis of ESR1
     EMD Millipore Mono- and Polyclonal Antibodies for the study of ESR1
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for ESR1 (ER alpha/NR3A1)   Browse Cell Culture Products  
     ELISAs for ESR1 (ER alpha/NR3A1)   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for ESR1   OriGene RNAi products in human, mouse, rat for ESR1  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for ESR1  
     OriGene MassSpec something-or-other for ESR1   OriGene clones in human, mouse for ESR1  
     OriGene qSTAR qPCR primer pairs in human, mouse for ESR1   OriGene Purified Protein for ESR1  
     OriGene ORF clones in mouse, rat for ESR1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ESR1   OriGene Custom Protein Services for ESR1  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ESR1
     QIAGEN SeqTarget long-range PCR primers for resequencing ESR1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ESR1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ESR1
     Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ESR1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ESR1
     GenScript Custom Purified and Recombinant Proteins Services for ESR1 GenScript cDNA clones with any tag delivered in your preferred vector for ESR1
     GenScript Custom Assay Services for ESR1 GenScript Superior Antibodies for ESR1
     GenScript Custom overexpressing Cell Line Services for ESR1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Antibodies & Assays for ESR1  (ER-alpha)

     Regulatory tfbs in ESR1 promoter
     Search Chromatin IP Primers for ESR1
     RT2 qPCR Primer Assay in human, mouse, rat ESR1
     GNC Network for ESR1
     SABiosciences PCR Arrays including human, mouse, rat ESR1
     Tocris compounds for ESR1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     cDNA Clones for ESR1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Drugs for ESR1
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     ESR1 antibodies
     ESR1 proteins
     ESR1 lysates
     Antibodies for ESR1
     See all of Abcam's Antibodies, Kits and Proteins for ESR1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for ESR1




     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.
     Search LifeMap BioReagents cell lines for ESR1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ESR1
     Browse SwitchGear 3'UTR luciferase reporter plasmids for ESR1
     SwitchGear Promoter luciferase reporter plasmids for ESR1
     ThermoFisher Antibody for ESR1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ESR1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for ESR1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ESR1
    Customized:
     lentivirus for stable overexpression of ESR1
     lentivirus expression plasmids for stable overexpression of ESR1
     adenovirus for overexpression of ESR1
     LSBio Antibodies in human, mouse, rat for ESR1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ESR1 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4