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

ESR1 Gene

protein-coding   GIFtS: 74
GCID: GC06P151980

estrogen receptor 1


(Previous symbol: ESR)
 Explore 332 diseases affiliated with
ESR1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ESR1    

Aliases
for ESR1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Estrogen Receptor 11 2     Estrogen Receptor2
ESR1 2 3 5     Estrogen Receptor Alpha 3*,4,5,6,7*/822 Isoform2
NR3A11 2 3     Estrogen Receptor Alpha Delta 3*,4,5,6,7*,8*/941 Isoform2
Era1 2     Estrogen Receptor Alpha Delta 3*,4,5,6,7*/819-2 Isoform2
Estradiol Receptor2 3     Estrogen Receptor Alpha Delta 4 +49 Isoform2
Nuclear Receptor Subfamily 3 Group A Member 12 3     Estrogen Receptor Alpha Delta 4*,5,6,7*/654 Isoform2
ER2 3     Estrogen Receptor Alpha Delta 4*,5,6,7,8*/901 Isoform2
ER-Alpha1     Estrogen Receptor Alpha E1-E2-1-22
ESRA2     Estrogen Receptor Alpha E1-N2-E2-1-22
Estrogen Nuclear Receptor Alpha2     

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


Summaries
for ESR1 gene

(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:
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)

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:
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)


Genomic Views
for ESR1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
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 GC06P151980:  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

Proteins
for ESR1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 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
6/83 PDB 3D structures from and Proteopedia for ESR1 (see all 83):
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

Post-translational modifications:

  • Phosphorylated by cyclin A/CDK2 and CK1. Phosphorylation probably enhances transcriptional activity. Self-association
    • induces phosphorylation1
  • 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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P03372

    • ESR1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
    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: ESR1
    OriGene Protein Over-expression Lysate (see all 4): 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
    ProSpec Recombinant Protein for ESR1
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/15 cellular component terms (GO ID links to tree view) (see all 15):    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 (see all 9): ESR1
    OriGene Custom Antibody Services for ESR1 
    GenScript Superior Antibodies for ESR1
    Novus Biologicals ESR1 Antibodies
    Abcam antibodies for ESR1 
    Browse Antibodies at Uscn
    ThermoFisher Antibody for ESR1

    Assay Products for ESR1: 
    EMD Millipore Kits and Assays for the Analysis of ESR1
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    R&D Systems ELISAs for ESR1 (ER alpha/NR3A1)
    GenScript Custom Assay Services for ESR1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for ESR1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ESR1 for domains           About GeneDecksing

    5/8 InterPro domains/families (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 families:
    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


    Function
    for ESR1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

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

    10/538 SABiosciences Target genes for ESR1 (see all 538):
    ACPP ADAM6 ADAMTS15 ADM2 AGA AK2 AKAP2 AKNA ALKBH1 ANKLE1

    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)

    OriGene 3'-UTR Clone (see all 4): ESR1
    Browse MicroRNA Expression Plasmids
    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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ESR1 (see all 7)
    OriGene shRNA RFP: ESR1
    OriGene siRNA: ESR1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ESR1

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ESR1 (see all 6)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ESR1 (see all 4)
    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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ESR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat 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

    Gene Ontology (GO): 5/21 molecular function terms (GO ID links to tree view) (see all 21):    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


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

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


    Pathways & Interactions
    for ESR1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/34 super-pathways (see all 34) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Development_Ligand-dependent activation of the ESR1/AP-1 pathway
    		Development_Ligand-dependent activation of the ESR1/AP-1 pathway1.00
    		Transcription Ligand-dependent activation of the ESR1/SP pathway0.37
    		Development Ligand-dependent activation of the ESR1/AP-1 pathway1.00
    		Transcription_Ligand-dependent activation of the ESR1/SP pathway0.37
    2Development HGF signaling pathway
    		Apoptosis and survival_Anti-apoptotic action of membrane-bound ESR10.24
    		Apoptosis and survival_Anti-apoptotic action of nuclear ESR1 and ESR20.15
    		Apoptosis and survival Anti-apoptotic action of membrane-bound ESR10.24
    		Apoptosis and survival Anti-apoptotic action of nuclear ESR1 and ESR20.15
    3Development_Ligand-independent activation of ESR1 and ESR2
    		Development_Ligand-independent activation of ESR1 and ESR21.00
    		Development Ligand-independent activation of ESR1 and ESR20.97
    4Nuclear Receptor transcription pathway
    		Nuclear Receptor transcription pathway1.00
    		Nuclear Receptors0.68
    5Generic Transcription Pathway
    		Generic Transcription Pathway1.00
    		Gene Expression0.46

    Pathway sources
    See GeneCards unified pathways
    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

    5/15 BioSystems Pathways for ESR1 (see all 15) 
        Estrogen signaling pathway
    Nuclear Receptors
    Integrated Breast Cancer Pathway
    Integrated Pancreatic Cancer Pathway
    Integrated Pancreatic Cancer 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

    1         Kegg Pathway  (Kegg details for ESR1):
        Endocrine and other factor-regulated calcium reabsorption


    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)

    5/717 Interacting proteins for ESR1 (P033721, 2, 3 ENSP000002062494) via UniProtKB, MINT, STRING, and/or I2D (see all 717)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCOA1Q157881, 2, 3, ENSP000003209404EBI-78473,EBI-455189 MINT-6614398 MINT-5222222 MINT-3292078 MINT-5222208 MINT-5222241 I2D: score=4 STRING: ENSP00000320940
    EGFRP005331, 2, 3, ENSP000002754934EBI-4309277,EBI-297353 MINT-6169656 MINT-6169667 MINT-6169647 I2D: score=2 STRING: ENSP00000275493
    BRCA1P383981, 2, 3, ENSP000003502834EBI-78473,EBI-349905 MINT-13785 MINT-13786 I2D: score=5 STRING: ENSP00000350283
    MTA1Q133302, 3, ENSP000003336334MINT-6613980 MINT-6614361 MINT-6614075 MINT-6613885 I2D: score=4 STRING: ENSP00000333633
    CHD3Q128732, 3, ENSP000003697164MINT-6613980 MINT-6614075 MINT-6614301 MINT-6613885 I2D: score=2 STRING: ENSP00000369716
    About this table

    Gene Ontology (GO): 5/40 biological process terms (GO ID links to tree view) (see all 40):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001547antral ovarian follicle growth IEA--
    GO:0002064epithelial cell development IEA--
    GO:0002076osteoblast development ----
    GO:0006351transcription, DNA-dependent TAS2040605
    GO:0006355regulation of transcription, DNA-dependent NAS3753802


    ESR1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ESR1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 #
    EndoxifenPotent antiestrogen; ERalpha ligand[112093-28-4]
    ICI 182,780 Estrogen receptor antagonist[129453-61-8]
    PPTSubtype-selective ERalpha agonist[263717-53-9]

    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

    10/125 Novoseek 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)

    6 PharmGKB related drug/compound annotations for ESR1 gene
    Drug/compound PharmGKB Annotation
    conjugated estrogensCA  
    exemestaneDL  
    fulvestrantDL  
    leflunomideCA  
    medroxyprogesteroneCA  
    tamoxifenCA  DL  
    About this table

    Search CenterWatch for drugs/clinical trials and news about ESR1 

    Transcripts
    for ESR1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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

    miRNA
    Products:             		 OriGene 3'-UTR Clone (see all 4): ESR1
    Browse OriGene MicroRNA Expression Plasmids
    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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ESR1 (see all 7)
    OriGene shRNA RFP: ESR1
    OriGene siRNA: ESR1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ESR1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ESR1 (see all 6)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ESR1 (see all 4)
    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 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ESR1
    Browse OriGene validated miRNA SYBR primer pairs
    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 cDNA 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 EU930361.1 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):

    AI888281 AI888116 AW193584 AI073549 BX472142 AA299347 U68068 AW571455 
    X86816 CA435528 AI274727 AI654018 AW440601 U68067 AA296578 AW438839 
    AI370308 AA291749 AI669577 AI634735 AI524356 AI910598 AW951857 AI565481 

    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

    Expression
    for ESR1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGCAGGTGCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ESR1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryAntral FollicleTheca CellsOvary
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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 genome-wide validated SYBR primer pairs in human, mouse, rat for ESR1
    Browse OriGene validated miRNA SYBR primer pairs
    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
    for ESR1 gene

    (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 chordates.

    Orthologs for ESR1 gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ESR11 estrogen receptor 1 76(n)
    79.55(a)    		   396099  NM_205183.1  NP_990514.1 
    lizard
    (Anolis carolinensis)    		 Reptilia ESR1_ANOCA6
    		 Estrogen receptor Fragment (ER)(ER-alpha)(Estradio...
    		 79(a)
    		 1 ↔ 1
    		 GL343259.1(1521422-1578780)
    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 


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

    Paralogs
    for ESR1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ESR1 gene
    ESRRA2  RXRG2  PGR2  ESR22  ESRRB2  HNF4G2  NR2F62  NR2E12  
    ESRRG2  NR3C22  RXRA2  NR2F12  NR3C12  NR2F22  AR2  NR2C12  
    HNF4A2  NR2C22  RXRB2  
    18/63 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



    Genomic Variants
    for ESR1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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


    10/7171 NCBI SNPs in ESR1 are shown (see all 7171)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048939561,2
    		Cpathogenic160519862(+) ATAATC/TGACGC 8 R * stg10--------
    rs1163847331,2
    		C,F,--149572564(+) AATAAT/CTGAAA 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs779500451,2
    		C,F,--149572597(+) ATTTCG/ACTTTC 1 -- us2k11Minor allele frequency- A:0.03NA 120
    rs558193741,2
    		F,--149572599(+) TTCGCT/CTTCAA 1 -- us2k12Minor allele frequency- C:0.02NA EA 240
    rs748852881,2
    		C,F,--149572683(+) ATGCTT/AACAGA 1 -- us2k11Minor allele frequency- A:0.07WA 118
    rs94791001,2
    		H,--149572820(+) CTGGAG/AAAGTT 1 -- us2k14Minor allele frequency- A:0.00NS EA 420
    rs1136929041,2
    		C,--149572938(+) GATTAT/CTTATT 1 -- us2k12Minor allele frequency- C:0.04CSA WA 120
    rs624419851,2
    		--149573060(+) TGCCTC/TCGCCC 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs750271161,2
    		C,--149573070(+) CCATTC/ATACCA 1 -- us2k12Minor allele frequency- A:0.16CSA WA 120
    rs801237401,2
    		C,--149573350(+) TATGAC/GAGAAG 1 -- us2k11Minor allele frequency- G:0.01WA 118

    HapMap Linkage Disequilibrium report for ESR1 (151977826 - 152227826 bp, first 250kb of ESR1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 18 variations for ESR1
         14 CNVs: 81657 64686 81655 51824 4512 94112 99757 6518 94113 81654 43439 51825 62588 44234
         4 Indels: 81656 94114 81658 28124
    Human Gene Mutation Database (HGMD): ESR1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ESR1
    DNA2.0 Custom Variant and Variant Library Synthesis for ESR1

    Disorders / Diseases
    for ESR1 gene

    (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.)
    About This Section
    ESR1 for disorders           About GeneDecksing

    OMIM gene information: 133430   
    OMIM disorders: 157300  608446  
    20/332 diseases for ESR1 (see all 332):    About MalaCards
    hdl response to hormone replacement, augmented    ossification of posterior longitudinal ligament of spine    breast cancer    dosage-sensitive sex reversal
    endometrial cancer    osteoporosis    progesterone-receptor negative breast cancer    progesterone-receptor positive breast cancer
    estrogen-receptor negative breast cancer    estrogen-receptor positive breast cancer    gender identity disorder    primary pigmented nodular adrenocortical disease
    open-angle glaucoma    sertoli-leydig cell tumor    smooth muscle tumor    obsessive-compulsive disorder
    serous cystadenocarcinoma    sex reversal    intravenous leiomyomatosis    catamenial pneumothorax

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

    10/95 Novoseek 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

    Publications
    for ESR1 gene

    (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 6719):
    (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. 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)
    3. 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)
    4. [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)
    5. Polymorphisms of estrogen receptor alpha in prostate cancer. (PubMed id 12891629)1, 4, 9 Tanaka Y....Dahiya R. (2003)
    6. 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)
    7. Relationship of estrogen receptor genotypes to bone mineral density and to rates of bone loss in men. (PubMed id 15070949)1, 4, 9 Khosla S....Brandi M.L. (2004)
    8. Estrogen receptor genotypes and haplotypes associated with breast cancer risk. (PubMed id 15604249)1, 4, 9 Gold B....Offit K. (2004)
    9. Distinct association of gene polymorphisms of estrogen receptor and vitamin D receptor with lumbar spondylosis in post-menopausal women. (PubMed id 16362385)1, 4, 9 Koshizuka Y....Kawaguchi H. (2006)
    10. Analysis of estrogen receptor (ERalpha and ERbeta) and progesterone receptor (PR) polymorphisms in uterine leiomyomas. (PubMed id 12552233)1, 4, 9 Massart F....Brandi L. (2003)

    External Searches for ESR1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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    NCBI Bookshelf
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    Genome Databases showing ESR1 gene

    (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

    Other Databases showing ESR1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ESR1 gene

    (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

    Intellectual Property
    for ESR1 gene

    (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



    Products
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    In Situ Hybridization Assays from
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