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ESR1 (estrogen receptor 1)

Identity

Alias_namesESR
Alias_symbol (synonym)NR3A1
Era
Other aliasER
ESRA
ESTRR
HGNC (Hugo) ESR1
LocusID (NCBI) 2099
Atlas_Id 40499
Location 6q25.1  [Link to chromosome band 6q25]
Location_base_pair Starts at 151807679 and ends at 152103273 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
E2F1 (20q11.22) / ESR1 (6q25.1)ESR1 (6q25.1) / ARMT1 (6q25.1)ESR1 (6q25.1) / ASPH (8q12.3)
ESR1 (6q25.1) / BNC2 (9p22.3)ESR1 (6q25.1) / CCDC170 (6q25.1)ESR1 (6q25.1) / LOC100287944 (12q23.3)
ESR1 (6q25.1) / MTHFD1L (6q25.1)ESR1 (6q25.1) / TFB1M (6q25.3)ESR1 (6q25.1) / USP25 (21q21.1)
FASN (17q25.3) / ESR1 (6q25.1)MALAT1 (11q13.1) / ESR1 (6q25.1)TULP4 (6q25.3) / ESR1 (6q25.1)
ESR1 6q25.1 / ASPH 8q12.3ESR1 6q25.1 / BNC2 9p22.3ESR1 6q25.1 C6orf211
ESR1 6q25.1 C6orf97ESR1 6q25.1 / MTHFD1L 6q25.1ESR1 6q25.1 / TFB1M 6q25.3
ESR1 6q25.1 / USP25 21q21.1TULP4 6q25.3 / ESR1 6q25.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(6;9)(p22;q34) DEK/NUP214
t(6;9)(p22;q34) DEK/NUP214 in Childhood
t(9;13)(p12;q21) PAX5/DACH1


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  Soft Tissues: Aggressive angiomyxoma
Soft Tissues: Desmoid-type fibromatosis
Breast: Ductal carcinoma
Uterus: Leiomyoma
Male breast cancer
Thyroid: Medullary carcinoma


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Hereditary breast cancer


External links

Nomenclature
HGNC (Hugo)ESR1   3467
LRG (Locus Reference Genomic)LRG_992
Cards
Entrez_Gene (NCBI)ESR1  2099  estrogen receptor 1
AliasesER; ESR; ESRA; ESTRR; 
Era; NR3A1
GeneCards (Weizmann)ESR1
Ensembl hg19 (Hinxton)ENSG00000091831 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000091831 [Gene_View]  chr6:151807679-152103273 [Contig_View]  ESR1 [Vega]
ICGC DataPortalENSG00000091831
TCGA cBioPortalESR1
AceView (NCBI)ESR1
Genatlas (Paris)ESR1
WikiGenes2099
SOURCE (Princeton)ESR1
Genetics Home Reference (NIH)ESR1
Genomic and cartography
GoldenPath hg38 (UCSC)ESR1  -     chr6:151807679-152103273 +  6q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ESR1  -     6q25.1   [Description]    (hg19-Feb_2009)
EnsemblESR1 - 6q25.1 [CytoView hg19]  ESR1 - 6q25.1 [CytoView hg38]
Mapping of homologs : NCBIESR1 [Mapview hg19]  ESR1 [Mapview hg38]
OMIM114480   133430   157300   608446   615363   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_000125 NM_001122740 NM_001122741 NM_001122742 NM_001291230 NM_001291241 NM_001328100
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ESR1
Cluster EST : UnigeneHs.744830 [ NCBI ]
CGAP (NCI)Hs.744830
Alternative Splicing GalleryENSG00000091831
Gene ExpressionESR1 [ NCBI-GEO ]   ESR1 [ EBI - ARRAY_EXPRESS ]   ESR1 [ SEEK ]   ESR1 [ MEM ]
Gene Expression Viewer (FireBrowse)ESR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2099
GTEX Portal (Tissue expression)ESR1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP03372   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP03372  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP03372
Splice isoforms : SwissVarP03372
PhosPhoSitePlusP03372
Domaine pattern : Prosite (Expaxy)NUCLEAR_REC_DBD_1 (PS00031)    NUCLEAR_REC_DBD_2 (PS51030)   
Domains : Interpro (EBI)Nucl_hrmn_rcpt_lig-bd    Nuclear_hrmn_rcpt    Oest_rcpt/oest-rel_rcp    Oestr_rcpt    Oestrogen-typ_rcpt_final_C_dom    Znf_hrmn_rcpt    Znf_NHR/GATA   
Domain families : Pfam (Sanger)ESR1_C (PF12743)    Hormone_recep (PF00104)    Oest_recep (PF02159)    zf-C4 (PF00105)   
Domain families : Pfam (NCBI)pfam12743    pfam00104    pfam02159    pfam00105   
Domain families : Smart (EMBL)HOLI (SM00430)  ZnF_C4 (SM00399)  
Conserved Domain (NCBI)ESR1
DMDM Disease mutations2099
Blocks (Seattle)ESR1
PDB (SRS)###############################################################################################################################################################################################################################################################   
PDB (PDBSum)###############################################################################################################################################################################################################################################################   
PDB (IMB)###############################################################################################################################################################################################################################################################   
PDB (RSDB)###############################################################################################################################################################################################################################################################   
Structural Biology KnowledgeBase###############################################################################################################################################################################################################################################################   
SCOP (Structural Classification of Proteins)###############################################################################################################################################################################################################################################################   
CATH (Classification of proteins structures)###############################################################################################################################################################################################################################################################   
SuperfamilyP03372
Human Protein AtlasENSG00000091831
Peptide AtlasP03372
HPRD00589
IPIIPI00294982   IPI00218352   IPI01018719   IPI00807600   IPI00942862   IPI01025596   IPI00914846   IPI00969222   IPI00973132   IPI00914643   IPI00025064   IPI00922288   IPI01018934   IPI00914588   IPI00879773   IPI00902535   IPI00878052   
Protein Interaction databases
DIP (DOE-UCLA)P03372
IntAct (EBI)P03372
FunCoupENSG00000091831
BioGRIDESR1
STRING (EMBL)ESR1
ZODIACESR1
Ontologies - Pathways
QuickGOP03372
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  core promoter sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  TFIIB-class transcription factor binding  antral ovarian follicle growth  epithelial cell development  chromatin binding  transcription factor activity, sequence-specific DNA binding  steroid hormone receptor activity  steroid binding  protein binding  nucleus  nucleoplasm  cytoplasm  Golgi apparatus  plasma membrane  chromatin remodeling  transcription, DNA-templated  regulation of transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  signal transduction  phospholipase C-activating G-protein coupled receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  beta-catenin binding  transcription factor binding  androgen metabolic process  zinc ion binding  male gonad development  negative regulation of gene expression  positive regulation of phospholipase C activity  membrane  integral component of membrane  protein deubiquitination  TBP-class protein binding  enzyme binding  protein kinase binding  nitric-oxide synthase regulator activity  estrogen receptor activity  estrogen receptor activity  estrogen receptor activity  estrogen receptor binding  intracellular steroid hormone receptor signaling pathway  intracellular estrogen receptor signaling pathway  intracellular estrogen receptor signaling pathway  response to estradiol  estrogen response element binding  regulation of toll-like receptor signaling pathway  transcriptionally active chromatin  RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding  RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding  identical protein binding  regulation of apoptotic process  negative regulation of I-kappaB kinase/NF-kappaB signaling  protein complex  negative regulation of sequence-specific DNA binding transcription factor activity  response to estrogen  positive regulation of transcription, DNA-templated  positive regulation of RNA polymerase II transcriptional preinitiation complex assembly  positive regulation of transcription from RNA polymerase II promoter  positive regulation of fibroblast proliferation  stem cell differentiation  regulation of inflammatory response  positive regulation of sequence-specific DNA binding transcription factor activity  ATPase binding  uterus development  vagina development  prostate epithelial cord elongation  prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis  regulation of branching involved in prostate gland morphogenesis  mammary gland branching involved in pregnancy  mammary gland alveolus development  epithelial cell proliferation involved in mammary gland duct elongation  protein localization to chromatin  cellular response to estrogen stimulus  cellular response to estradiol stimulus  cellular response to estradiol stimulus  transcriptional preinitiation complex  negative regulation of production of miRNAs involved in gene silencing by miRNA  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  core promoter sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  TFIIB-class transcription factor binding  antral ovarian follicle growth  epithelial cell development  chromatin binding  transcription factor activity, sequence-specific DNA binding  steroid hormone receptor activity  steroid binding  protein binding  nucleus  nucleoplasm  cytoplasm  Golgi apparatus  plasma membrane  chromatin remodeling  transcription, DNA-templated  regulation of transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  signal transduction  phospholipase C-activating G-protein coupled receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  beta-catenin binding  transcription factor binding  androgen metabolic process  zinc ion binding  male gonad development  negative regulation of gene expression  positive regulation of phospholipase C activity  membrane  integral component of membrane  protein deubiquitination  TBP-class protein binding  enzyme binding  protein kinase binding  nitric-oxide synthase regulator activity  estrogen receptor activity  estrogen receptor activity  estrogen receptor activity  estrogen receptor binding  intracellular steroid hormone receptor signaling pathway  intracellular estrogen receptor signaling pathway  intracellular estrogen receptor signaling pathway  response to estradiol  estrogen response element binding  regulation of toll-like receptor signaling pathway  transcriptionally active chromatin  RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding  RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding  identical protein binding  regulation of apoptotic process  negative regulation of I-kappaB kinase/NF-kappaB signaling  protein complex  negative regulation of sequence-specific DNA binding transcription factor activity  response to estrogen  positive regulation of transcription, DNA-templated  positive regulation of RNA polymerase II transcriptional preinitiation complex assembly  positive regulation of transcription from RNA polymerase II promoter  positive regulation of fibroblast proliferation  stem cell differentiation  regulation of inflammatory response  positive regulation of sequence-specific DNA binding transcription factor activity  ATPase binding  uterus development  vagina development  prostate epithelial cord elongation  prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis  regulation of branching involved in prostate gland morphogenesis  mammary gland branching involved in pregnancy  mammary gland alveolus development  epithelial cell proliferation involved in mammary gland duct elongation  protein localization to chromatin  cellular response to estrogen stimulus  cellular response to estradiol stimulus  cellular response to estradiol stimulus  transcriptional preinitiation complex  negative regulation of production of miRNAs involved in gene silencing by miRNA  
Pathways : BIOCARTA [Genes]   
Pathways : KEGGEstrogen signaling pathway    Prolactin signaling pathway    Thyroid hormone signaling pathway    Endocrine and other factor-regulated calcium reabsorption    Proteoglycans in cancer   
NDEx NetworkESR1
Atlas of Cancer Signalling NetworkESR1
Wikipedia pathwaysESR1
Orthology - Evolution
OrthoDB2099
GeneTree (enSembl)ENSG00000091831
Phylogenetic Trees/Animal Genes : TreeFamESR1
HOVERGENP03372
HOGENOMP03372
Homologs : HomoloGeneESR1
Homology/Alignments : Family Browser (UCSC)ESR1
Gene fusions - Rearrangements
Fusion : MitelmanESR1/ARMT1 [6q25.1/6q25.1]  
Fusion : MitelmanESR1/ASPH [6q25.1/8q12.3]  [t(6;8)(q25;q12)]  
Fusion : MitelmanESR1/BNC2 [6q25.1/9p22.3]  [t(6;9)(q25;p22)]  
Fusion : MitelmanESR1/CCDC170 [6q25.1/6q25.1]  [t(6;6)(q25;q25)]  
Fusion : MitelmanESR1/MTHFD1L [6q25.1/6q25.1]  [t(6;6)(q25;q25)]  
Fusion : MitelmanESR1/TFB1M [6q25.1/6q25.3]  [t(6;6)(q25;q25)]  
Fusion : MitelmanESR1/USP25 [6q25.1/21q21.1]  [t(6;21)(q25;q21)]  
Fusion : MitelmanTULP4/ESR1 [6q25.3/6q25.1]  [t(6;6)(q25;q25)]  
Fusion: TCGAESR1 6q25.1 ASPH 8q12.3 BRCA
Fusion: TCGAESR1 6q25.1 BNC2 9p22.3 BRCA
Fusion: TCGAESR1 6q25.1 C6orf211 BRCA
Fusion: TCGAESR1 6q25.1 C6orf97 BRCA
Fusion: TCGAESR1 6q25.1 MTHFD1L 6q25.1 BRCA
Fusion: TCGAESR1 6q25.1 TFB1M 6q25.3 LUSC
Fusion: TCGAESR1 6q25.1 USP25 21q21.1 BRCA
Fusion: TCGATULP4 6q25.3 ESR1 6q25.1 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerESR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ESR1
dbVarESR1
ClinVarESR1
1000_GenomesESR1 
Exome Variant ServerESR1
ExAC (Exome Aggregation Consortium)ESR1 (select the gene name)
Genetic variants : HAPMAP2099
Genomic Variants (DGV)ESR1 [DGVbeta]
DECIPHERESR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisESR1 
Mutations
ICGC Data PortalESR1 
TCGA Data PortalESR1 
Broad Tumor PortalESR1
OASIS PortalESR1 [ Somatic mutations - Copy number]
Cancer Gene: CensusESR1 
Somatic Mutations in Cancer : COSMICESR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDESR1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ESR1
DgiDB (Drug Gene Interaction Database)ESR1
DoCM (Curated mutations)ESR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ESR1 (select a term)
intoGenESR1
Cancer3DESR1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114480    133430    157300    608446    615363   
Orphanet8671   
MedgenESR1
Genetic Testing Registry ESR1
NextProtP03372 [Medical]
TSGene2099
GENETestsESR1
Target ValidationESR1
Huge Navigator ESR1 [HugePedia]
snp3D : Map Gene to Disease2099
BioCentury BCIQESR1
ClinGenESR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2099
Chemical/Pharm GKB GenePA156
Clinical trialESR1
Miscellaneous
canSAR (ICR)ESR1 (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineESR1
EVEXESR1
GoPubMedESR1
iHOPESR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:07:19 CEST 2017

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