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Aliases for ESR1 Gene

Aliases for ESR1 Gene

  • Estrogen Receptor 1 2 3 5
  • Nuclear Receptor Subfamily 3 Group A Member 1 3 4
  • Estradiol Receptor 3 4
  • ER-Alpha 3 4
  • NR3A1 3 4
  • ESR 3 4
  • ER 3 4
  • Estrogen Receptor Alpha Splice Variant, ERalphai45bL 3
  • Estrogen Receptor Alpha Splice Variant, ERalphai45bS 3
  • Estrogen Receptor Alpha Splice Variant, ERalphaDup5 3
  • Estrogen Receptor Alpha Splice Variant, ERalphai45a 3
  • Estrogen Receptor Alpha Splice Variant, ERalphai45c 3
  • Estrogen Receptor Alpha Splice Variant, ERalphai56 3
  • Estrogen Receptor Alpha Splice Variant, ERalphai67 3
  • Estrogen Receptor Alpha Splice Variant, CTERP-1 3
  • Estrogen Receptor Alpha E1-N2-E2-1-2 3
  • Estrogen Receptor Alpha E1-E2-1-2 3
  • Estrogen Nuclear Receptor Alpha 3
  • ESTRR 3
  • ESRA 3
  • ERA 3

External Ids for ESR1 Gene

Previous HGNC Symbols for ESR1 Gene

  • ESR

Previous GeneCards Identifiers for ESR1 Gene

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

Summaries for ESR1 Gene

Entrez Gene Summary for ESR1 Gene

  • This gene encodes an estrogen receptor, a ligand-activated transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. The protein localizes to the nucleus where it may form a homodimer or a heterodimer with estrogen receptor 2. Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues such as bone. Estrogen receptors are also involved in pathological processes including breast cancer, endometrial cancer, and osteoporosis. Alternative promoter usage and alternative splicing result in dozens of transcript variants, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Mar 2014]

GeneCards Summary for ESR1 Gene

ESR1 (Estrogen Receptor 1) is a Protein Coding gene. Diseases associated with ESR1 include estrogen resistance and migraine with or without aura 1. Among its related pathways are Gene Expression and Signaling by GPCR. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and identical protein binding. An important paralog of this gene is AR.

UniProtKB/Swiss-Prot for ESR1 Gene

  • Nuclear hormone receptor. The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Ligand-dependent nuclear transactivation involves either direct homodimer binding to a palindromic estrogen response element (ERE) sequence or association with other DNA-binding transcription factors, such as AP-1/c-Jun, c-Fos, ATF-2, Sp1 and Sp3, to mediate ERE-independent signaling. Ligand binding induces a conformational change allowing subsequent or combinatorial association with multiprotein coactivator complexes through LXXLL motifs of their respective components. Mutual transrepression occurs between the estrogen receptor (ER) and NF-kappa-B in a cell-type specific manner. Decreases NF-kappa-B DNA-binding activity and inhibits NF-kappa-B-mediated transcription from the IL6 promoter and displace RELA/p65 and associated coregulators from the promoter. Recruited to the NF-kappa-B response element of the CCL2 and IL8 promoters and can displace CREBBP. Present with NF-kappa-B components RELA/p65 and NFKB1/p50 on ERE sequences. Can also act synergistically with NF-kappa-B to activate transcription involving respective recruitment adjacent response elements; the function involves CREBBP. Can activate the transcriptional activity of TFF1. Also mediates membrane-initiated estrogen signaling involving various kinase cascades. Isoform 3 is involved in activation of NOS3 and endothelial nitric oxide production. Isoforms lacking one or several functional domains are thought to modulate transcriptional activity by competitive ligand or DNA binding and/or heterodimerization with the full length receptor. Essential for MTA1-mediated transcriptional regulation of BRCA1 and BCAS3. Isoform 3 can bind to ERE and inhibit isoform 1.

Tocris Summary for ESR1 Gene

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

Gene Wiki entry for ESR1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ESR1 Gene

Genomics for ESR1 Gene

Regulatory Elements for ESR1 Gene

Genomic Location for ESR1 Gene

Chromosome:
6
Start:
151,656,691 bp from pter
End:
152,129,619 bp from pter
Size:
472,929 bases
Orientation:
Plus strand

Genomic View for ESR1 Gene

Genes around ESR1 on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ESR1 Gene

Proteins for ESR1 Gene

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

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

    Protein attributes for ESR1 Gene

    Size:
    595 amino acids
    Molecular mass:
    66216 Da
    Quaternary structure:
    • Binds DNA as a homodimer. Can form a heterodimer with ESR2. Isoform 3 can probably homodimerize or heterodimerize with isoform 1 and ESR2. Interacts with FOXC2, MAP1S, SLC30A9, UBE1C and NCOA3 coactivator (By similarity). Interacts with EP300; the interaction is estrogen-dependent and enhanced by CITED1. Interacts with CITED1; the interaction is estrogen-dependent. Interacts with NCOA5 and NCOA6 coactivators. Interacts with NCOA7; the interaction is a ligand-inducible. Interacts with PHB2, PELP1 and UBE1C. Interacts with AKAP13. Interacts with CUEDC2. Interacts with KDM5A. Interacts with SMARD1. Interacts with HEXIM1. Interacts with PBXIP1. Interaction with MUC1 is stimulated by 7 beta-estradiol (E2) and enhances ERS1-mediated transcription. Interacts with DNTTIP2, FAM120B and UIMC1. Interacts with isoform 4 of TXNRD1. Interacts with KMT2D/MLL2. Interacts with ATAD2 and this interaction is enhanced by estradiol. Interacts with KIF18A and LDB1. Interacts with RLIM (via C-terminus). Interacts with MACROD1. Interacts with SH2D4A and PLCG. Interaction with SH2D4A blocks binding to PLCG and inhibits estrogen-induced cell proliferation. Interacts with DYNLL1. Interacts with CCDC62 in the presence of estradiol/E2; this interaction seems to enhance the transcription of target genes. Interacts with NR2C1; the interaction prevents homodimerization of ESR1 and suppresses its transcriptional activity and cell growth. Interacts with 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 ESR1 AF-1 and AF-2 domains simultaneously and mediate their transcriptional synergy. Interacts with DDX5. Interacts with NCOA1; the interaction seems to require a self-association of N-terminal and C-terminal regions. Interacts with ZNF366, DDX17, NFKB1, RELA, SP1 and SP3. Interacts with NRIP1 (By similarity). Interacts with GPER1; the interaction occurs in an estrogen-dependent manner. Interacts with CLOCK and the interaction is stimulated by estrogen. Interacts with BCAS3. Interacts with TRIP4 (ufmylated); estrogen dependent. Interacts with LMTK3; the interaction phosphorylates ESR1 (in vitro) and protects it against proteasomal degradation. Interacts with CCAR2 (via N-terminus) in a ligand-independent manner. Interacts with ZFHX3. Interacts with SFR1 in a ligand-dependent and -independent manner (PubMed:23874500).
    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.

    Three dimensional structures from OCA and Proteopedia for ESR1 Gene

    Alternative splice isoforms for ESR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ESR1 Gene

Proteomics data for ESR1 Gene at MOPED

Post-translational modifications for ESR1 Gene

  • Dimethylated by PRMT1 at Arg-260. The methylation may favor cytoplasmic localization.
  • Glycosylated; contains N-acetylglucosamine, probably O-linked.
  • Palmitoylated (isoform 3). Not biotinylated (isoform 3).
  • Palmitoylated by ZDHHC7 and ZDHHC21. Palmitoylation is required for plasma membrane targeting and for rapid intracellular signaling via ERK and AKT kinases and cAMP generation, but not for signaling mediated by the nuclear hormone receptor.
  • Phosphorylated by cyclin A/CDK2 and CK1. Phosphorylation probably enhances transcriptional activity. Self-association induces phosphorylation. Dephosphorylation at Ser-118 by PPP5C inhibits its transactivation activity. Phosphorylated by LMTK3 in vitro.
  • Ubiquitinated. Deubiquitinated by OTUB1.
  • Glycosylation at Ser 10
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ESR1 Gene

Domains & Families for ESR1 Gene

Gene Families for ESR1 Gene

Graphical View of Domain Structure for InterPro Entry

P03372

UniProtKB/Swiss-Prot:

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

Function for ESR1 Gene

Molecular function for ESR1 Gene

GENATLAS Biochemistry:
estrogen receptor 1 alpha,steroid/thyroid hormone receptor superfamily,coactivated by PPARBP
UniProtKB/Swiss-Prot Function:
Nuclear hormone receptor. The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Ligand-dependent nuclear transactivation involves either direct homodimer binding to a palindromic estrogen response element (ERE) sequence or association with other DNA-binding transcription factors, such as AP-1/c-Jun, c-Fos, ATF-2, Sp1 and Sp3, to mediate ERE-independent signaling. Ligand binding induces a conformational change allowing subsequent or combinatorial association with multiprotein coactivator complexes through LXXLL motifs of their respective components. Mutual transrepression occurs between the estrogen receptor (ER) and NF-kappa-B in a cell-type specific manner. Decreases NF-kappa-B DNA-binding activity and inhibits NF-kappa-B-mediated transcription from the IL6 promoter and displace RELA/p65 and associated coregulators from the promoter. Recruited to the NF-kappa-B response element of the CCL2 and IL8 promoters and can displace CREBBP. Present with NF-kappa-B components RELA/p65 and NFKB1/p50 on ERE sequences. Can also act synergistically with NF-kappa-B to activate transcription involving respective recruitment adjacent response elements; the function involves CREBBP. Can activate the transcriptional activity of TFF1. Also mediates membrane-initiated estrogen signaling involving various kinase cascades. Isoform 3 is involved in activation of NOS3 and endothelial nitric oxide production. Isoforms lacking one or several functional domains are thought to modulate transcriptional activity by competitive ligand or DNA binding and/or heterodimerization with the full length receptor. Essential for MTA1-mediated transcriptional regulation of BRCA1 and BCAS3. Isoform 3 can bind to ERE and inhibit isoform 1.

Gene Ontology (GO) - Molecular Function for ESR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001046 core promoter sequence-specific DNA binding IDA 15345745
GO:0003682 chromatin binding IDA 17505058
GO:0008013 beta-catenin binding IPI 15304487
GO:0008134 transcription factor binding IPI 17505058
GO:0030235 nitric-oxide synthase regulator activity NAS 12389206
genes like me logo Genes that share ontologies with ESR1: view
genes like me logo Genes that share phenotypes with ESR1: view

Human Phenotype Ontology for ESR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ESR1 Gene

MGI Knock Outs for ESR1:

Animal Model Products

miRNA for ESR1 Gene

miRTarBase miRNAs that target ESR1

Transcription Factor Targets for ESR1 Gene

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

In Situ Assay Products

Flow Cytometry Products

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

Localization for ESR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ESR1 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ESR1 Gene COMPARTMENTS Subcellular localization image for ESR1 gene
Compartment Confidence
golgi apparatus 5
nucleus 5
plasma membrane 5
cytosol 4
mitochondrion 3
cytoskeleton 2
endoplasmic reticulum 2
extracellular 2
lysosome 2
vacuole 2
endosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ESR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol ISS --
GO:0043204 perikaryon IEA --
genes like me logo Genes that share ontologies with ESR1: view

Pathways & Interactions for ESR1 Gene

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

SIGNOR curated interactions for ESR1 Gene

Gene Ontology (GO) - Biological Process for ESR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 20388878
GO:0002064 epithelial cell development IEA --
GO:0006366 transcription from RNA polymerase II promoter IDA 15831516
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0008209 androgen metabolic process IEA --
genes like me logo Genes that share ontologies with ESR1: view

Drugs & Compounds for ESR1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fulvestrant Approved, Investigational Pharma Antagonist, inhibitor, antagonist, Target Estrogen receptor antagonist,high affinity, Hormone therapy 173
Tamoxifen Approved Pharma Antagonist, antagonist, Biomarker, Target, agonist ER antagonist, Anti-Estrogens 350
Diethylstilbestrol Approved Pharma Agonist, agonist, Target 5
Estrone Approved Pharma Agonist, agonist, Target Estrogenic hormone 19
Estriol Approved Pharma Agonist, agonist, Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
17beta-estradiol
Agonist
4-hydroxy?aetamoxifen
Antagonist
N-Desmethyltamoxifen
31750-48-8
17a-Estradiol
  • 1,3,5-Estratriene-3,17a-diol
  • 13b-Methyl-1,3,5(10)-gonatriene-3,17a-diol
  • 17-Epiestradiol
  • 17a-Oestradiol
  • 3,17-Dihydroxyestratriene
57-91-0
DPN
1428-67-7
genes like me logo Genes that share compounds with ESR1: view

Drug Products

Transcripts for ESR1 Gene

Unigene Clusters for ESR1 Gene

Estrogen receptor 1:
Representative Sequences:

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

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

Relevant External Links for ESR1 Gene

GeneLoc Exon Structure for
ESR1
ECgene alternative splicing isoforms for
ESR1

Expression for ESR1 Gene

mRNA expression in normal human tissues for ESR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

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

Protein differential expression in normal tissues from HIPED for ESR1 Gene

This gene is overexpressed in Breast (61.1).

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



SOURCE GeneReport for Unigene cluster for ESR1 Gene Hs.208124

mRNA Expression by UniProt/SwissProt for ESR1 Gene

P03372-ESR1_HUMAN
Tissue specificity: Widely expressed. Isoform 3 is not expressed in the pituitary gland.
genes like me logo Genes that share expression patterns with ESR1: view

Protein tissue co-expression partners for ESR1 Gene

Primer Products

In Situ Assay Products

Orthologs for ESR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ESR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ESR1 35
  • 99.22 (n)
  • 99.16 (a)
ESR1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ESR1 36
  • 90 (a)
OneToOne
ESR1 35
  • 89.58 (n)
  • 91.93 (a)
dog
(Canis familiaris)
Mammalia ESR1 35
  • 89.15 (n)
  • 89.54 (a)
ESR1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Esr1 16
Esr1 35
  • 85.6 (n)
  • 88.91 (a)
Esr1 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ESR1 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ESR1 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Esr1 35
  • 84.65 (n)
  • 88.07 (a)
chicken
(Gallus gallus)
Aves ESR1 36
  • 75 (a)
OneToOne
ESR1 35
  • 75.95 (n)
  • 79.55 (a)
lizard
(Anolis carolinensis)
Reptilia ESR1 36
  • 71 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398734 35
tropical clawed frog
(Silurana tropicalis)
Amphibia esr1 35
  • 68.54 (n)
  • 73.11 (a)
LOC394461 35
zebrafish
(Danio rerio)
Actinopterygii esr1 36
  • 45 (a)
OneToOne
esr1 35
  • 62.36 (n)
  • 60.78 (a)
fruit fly
(Drosophila melanogaster)
Insecta ERR 36
  • 25 (a)
OneToMany
Species with no ortholog for ESR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ESR1 Gene

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

Paralogs for ESR1 Gene

Paralogs for ESR1 Gene

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

Variants for ESR1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ESR1 Gene

P03372-ESR1_HUMAN
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.

Sequence variations from dbSNP and Humsavar for ESR1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs488133 -- 151,804,309(+) ACAGC(C/T)AACCT intron-variant, upstream-variant-2KB
rs532062 -- 151,792,585(-) gtgta(C/T)gtctg intron-variant
rs538098 -- 151,799,734(+) ctcaa(C/T)aggaa intron-variant
rs746432 -- 151,808,173(-) AACGC(C/G)GCAGC upstream-variant-2KB, reference, synonymous-codon
rs862346 -- 151,695,234(-) CTAAA(A/T)CCAAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv830844 CNV Gain 17160897
nsv349546 CNV Loss 16902084
nsv830845 CNV Loss 17160897
nsv521296 CNV Loss 19592680
esv1599352 CNV Deletion 17803354
nsv519010 CNV Loss 19592680
nsv507368 CNV Insertion 20534489
esv2673247 CNV Deletion 23128226
nsv517009 CNV Loss 19592680
esv2553510 CNV Deletion 19546169
esv989075 CNV Deletion 20482838
esv1932842 CNV Deletion 18987734
dgv1068n67 CNV Loss 20364138
esv2732904 CNV Deletion 23290073
esv3558 CNV Deletion 18987735
esv5694 CNV Loss 19470904
dgv164e180 CNV Loss 20482838
esv25879 CNV Loss 19812545

Variation tolerance for ESR1 Gene

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

Relevant External Links for ESR1 Gene

HapMap Linkage Disequilibrium report
ESR1
Human Gene Mutation Database (HGMD)
ESR1

Disorders for ESR1 Gene

MalaCards: The human disease database

(136) MalaCards diseases for ESR1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
estrogen resistance
  • estrogen insensitivity
migraine with or without aura 1
  • migraine
myocardial infarction
  • myocardial infarction, protection against
breast cancer
  • breast cancer, invasive ductal
estrogen-receptor negative breast cancer
- elite association - COSMIC cancer census association via MalaCards
Search ESR1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ESR1_HUMAN
  • Estrogen resistance (ESTRR) [MIM:615363]: A disorder characterized by partial or complete resistance to estrogens, in the presence of elevated estrogen serum levels. Clinical features include absence of the pubertal growth spurt, delayed bone maturation, unfused epiphyses, reduced bone mineral density, osteoporosis, continued growth into adulthood and very tall adult stature. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present. {ECO:0000269 PubMed:23841731, ECO:0000269 PubMed:8961262}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ESR1

Genetic Association Database (GAD)
ESR1
Human Genome Epidemiology (HuGE) Navigator
ESR1
Tumor Gene Database (TGDB):
ESR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ESR1
genes like me logo Genes that share disorders with ESR1: view

No data available for Genatlas for ESR1 Gene

Publications for ESR1 Gene

  1. Human oestrogen receptor cDNA: sequence, expression and homology to v-erb-A. (PMID: 3754034) Green S. … Chambon P. (Nature 1986) 2 3 4 67
  2. Measuring binding kinetics of ligands with tethered receptors by fluorescence polarization and total internal reflection fluorescence. (PMID: 20387803) Kwok K.C. … Cheung N.H. (Anal. Chem. 2010) 23 25 26
  3. Selective estrogen receptor modulators: an update on recent clinical findings. (PMID: 18279543) Shelly W. … Jaffe R.B. (Obstet Gynecol Surv 2008) 23 25 26
  4. Estrogen receptor alpha and the activating protein-1 complex cooperate during insulin-like growth factor-I-induced transcriptional activation of the pS2/TFF1 gene. (PMID: 17317669) Baron S. … Richard-Foy H. (J. Biol. Chem. 2007) 3 25 26
  5. Estrogen receptor-alpha (ER-alpha) and defects in uterine receptivity in women. (PMID: 17118173) Lessey B.A. … Lininger R.A. (Reprod. Biol. Endocrinol. 2006) 3 25 26

Products for ESR1 Gene

Sources for ESR1 Gene

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