Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ESR1 (estrogen receptor 1)

Identity

Other namesER
ESR
ESRA
Era
NR3A1
HGNC (Hugo) ESR1
LocusID (NCBI) 2099
Location 6q25.1
Location_base_pair Starts at 152128814 and ends at 152424408 bp from pter ( according to hg19-Feb_2009)
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

 

External links

Nomenclature
HGNC (Hugo)ESR1   3467
Entrez_Gene (NCBI)ESR1  2099  estrogen receptor 1
Cards
GeneCards (Weizmann)ESR1
Ensembl (Hinxton)ENSG00000091831 [Gene_View]  chr6:152128814-152424408 [Contig_View]  ESR1 [Vega]
AceView (NCBI)ESR1
Genatlas (Paris)ESR1
SOURCE (Stanford)NM_000125 NM_001122740 NM_001122741 NM_001122742
Genomic and cartography
GoldenPath (UCSC)ESR1  -  6q25.1   chr6:152128814-152424408 +  6q25.1   [Description]    (hg19-Feb_2009)
EnsemblESR1 - 6q25.1 [CytoView]
Mapping of homologs : NCBIESR1 [Mapview]
OMIM133430   157300   608446   
Gene and transcription
Genbank (Entrez)AB307713 AB588629 AB588630 AB685815 AB685817
RefSeq transcript (SRS)NM_000125 NM_001122740 NM_001122741 NM_001122742
RefSeq transcript (Entrez)NM_000125 NM_001122740 NM_001122741 NM_001122742
RefSeq genomic (SRS)AC_000138 NC_000006 NC_018917 NG_008493 NT_025741 NW_001838990 NW_004078028
RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NG_008493 NT_025741 NW_001838990 NW_004078028
Consensus coding sequences : CCDS (NCBI)ESR1
Cluster EST : UnigeneHs.208124 [ SRS ] Hs.208124 [ NCBI ]
CGAP (NCI)Hs.208124
Alternative Splicing : Fast-db (Paris)GSHG0026129
Alternative Splicing GalleryENSG00000091831
Gene ExpressionESR1 [ NCBI-GEO ]   ESR1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP03372 (SRS) P03372 (Uniprot)
NextProtP03372
With graphics : InterProP03372
Splice isoforms : SwissVarP03372(Swissvar)
Domaine pattern : Prosite (SRS)NUCLEAR_REC_DBD_1 (PS00031)    NUCLEAR_REC_DBD_2 (PS51030)   
Domaine pattern : Prosite (Expaxy)NUCLEAR_REC_DBD_1 (PS00031)    NUCLEAR_REC_DBD_2 (PS51030)   
Domains : Interpro (SRS)Estrogen-typ_rcpt_C    Nucl_hormone_rcpt_ligand-bd    Nucl_hrmn_rcpt_lig-bd_core    Oestr_rcpt    Oestrogen_rcpt-rel    Str_hrmn_rcpt    Znf_hrmn_rcpt    Znf_NHR/GATA   
Domains : Interpro (EBI)Estrogen-typ_rcpt_C    Nucl_hormone_rcpt_ligand-bd    Nucl_hrmn_rcpt_lig-bd_core    Oestr_rcpt    Oestrogen_rcpt-rel    Str_hrmn_rcpt    Znf_hrmn_rcpt    Znf_NHR/GATA   
Related proteins : CluSTrP03372
Domain families : Pfam (SRS)ESR1_C (PF12743)    Hormone_recep (PF00104)    Oest_recep (PF02159)    zf-C4 (PF00105)   
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)  
DMDM2099
Blocks (Seattle)P03372
PDB (SRS)1A52    1AKF    1ERE    1ERR    1G50    1GWQ    1GWR    1HCP    1HCQ    1L2I    1PCG    1QKT    1QKU    1R5K    1SJ0    1UOM    1X7E    1X7R    1XP1    1XP6    1XP9    1XPC    1XQC    1YIM    1YIN    1ZKY    2AYR    2B1V    2B1Z    2B23    2BJ4    2FAI    2G44    2G5O    2I0J    2IOG    2IOK    2JF9    2JFA    2LLO    2LLQ    2OCF    2OUZ    2P15    2POG    2Q6J    2Q70    2QA6    2QA8    2QAB    2QE4    2QGT    2QGW    2QH6    2QR9    2QSE    2QXM    2QXS    2QZO    2R6W    2R6Y    2YAT    2YJA    3CBM    3CBO    3CBP    3DT3    3ERD    3ERT    3HLV    3HM1    3L03    3OS8    3OS9    3OSA    3Q95    3Q97    3UU7    3UUA    3UUC    3UUD    4AA6    4DMA   
PDB (PDBSum)1A52    1AKF    1ERE    1ERR    1G50    1GWQ    1GWR    1HCP    1HCQ    1L2I    1PCG    1QKT    1QKU    1R5K    1SJ0    1UOM    1X7E    1X7R    1XP1    1XP6    1XP9    1XPC    1XQC    1YIM    1YIN    1ZKY    2AYR    2B1V    2B1Z    2B23    2BJ4    2FAI    2G44    2G5O    2I0J    2IOG    2IOK    2JF9    2JFA    2LLO    2LLQ    2OCF    2OUZ    2P15    2POG    2Q6J    2Q70    2QA6    2QA8    2QAB    2QE4    2QGT    2QGW    2QH6    2QR9    2QSE    2QXM    2QXS    2QZO    2R6W    2R6Y    2YAT    2YJA    3CBM    3CBO    3CBP    3DT3    3ERD    3ERT    3HLV    3HM1    3L03    3OS8    3OS9    3OSA    3Q95    3Q97    3UU7    3UUA    3UUC    3UUD    4AA6    4DMA   
PDB (IMB)1A52    1AKF    1ERE    1ERR    1G50    1GWQ    1GWR    1HCP    1HCQ    1L2I    1PCG    1QKT    1QKU    1R5K    1SJ0    1UOM    1X7E    1X7R    1XP1    1XP6    1XP9    1XPC    1XQC    1YIM    1YIN    1ZKY    2AYR    2B1V    2B1Z    2B23    2BJ4    2FAI    2G44    2G5O    2I0J    2IOG    2IOK    2JF9    2JFA    2LLO    2LLQ    2OCF    2OUZ    2P15    2POG    2Q6J    2Q70    2QA6    2QA8    2QAB    2QE4    2QGT    2QGW    2QH6    2QR9    2QSE    2QXM    2QXS    2QZO    2R6W    2R6Y    2YAT    2YJA    3CBM    3CBO    3CBP    3DT3    3ERD    3ERT    3HLV    3HM1    3L03    3OS8    3OS9    3OSA    3Q95    3Q97    3UU7    3UUA    3UUC    3UUD    4AA6    4DMA   
PDB (RSDB)1A52    1AKF    1ERE    1ERR    1G50    1GWQ    1GWR    1HCP    1HCQ    1L2I    1PCG    1QKT    1QKU    1R5K    1SJ0    1UOM    1X7E    1X7R    1XP1    1XP6    1XP9    1XPC    1XQC    1YIM    1YIN    1ZKY    2AYR    2B1V    2B1Z    2B23    2BJ4    2FAI    2G44    2G5O    2I0J    2IOG    2IOK    2JF9    2JFA    2LLO    2LLQ    2OCF    2OUZ    2P15    2POG    2Q6J    2Q70    2QA6    2QA8    2QAB    2QE4    2QGT    2QGW    2QH6    2QR9    2QSE    2QXM    2QXS    2QZO    2R6W    2R6Y    2YAT    2YJA    3CBM    3CBO    3CBP    3DT3    3ERD    3ERT    3HLV    3HM1    3L03    3OS8    3OS9    3OSA    3Q95    3Q97    3UU7    3UUA    3UUC    3UUD    4AA6    4DMA   
Human Protein AtlasENSG00000091831
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
REACTOMEESR1
Protein Interaction Database2099
BioGRIDESR1
InParanoidP03372
Interologous Interaction database P03372
IntegromeDBESR1
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ESR1
SNP (GeneSNP Utah)ESR1
SNP : HGBaseESR1
Genetic variants : HAPMAPESR1
Somatic Mutations in Cancer : COSMICESR1 
CONAN: Copy Number AnalysisESR1 
Mutations and Diseases : HGMDESR1
OMIM133430    157300    608446   
GENETests133430    157300    608446   
Disease Genetic AssociationESR1
Huge Navigator ESR1 [HugePedia]  ESR1 [HugeCancerGEM]
Genomic VariantsESR1  ESR1 [DGVbeta]
snp3D : Map Gene to Disease2099
General knowledge
Homologs : HomoloGeneESR1
Homology/Alignments : Family Browser (UCSC)ESR1
Phylogenetic Trees/Animal Genes : TreeFamESR1
Chemical/Protein Interactions : CTD2099
Chemical/Pharm GKB GenePA156
Clinical trialESR1
Cancer Resource (Charite)ENSG00000091831
Ontology : AmiGOcore promoter sequence-specific DNA binding  antral ovarian follicle growth  epithelial cell development  osteoblast development  chromatin binding  sequence-specific DNA binding transcription factor activity  steroid hormone receptor activity  steroid binding  protein binding  nucleus  nucleoplasm  Golgi apparatus  plasma membrane  transcription, DNA-dependent  regulation of transcription, DNA-dependent  transcription initiation from RNA polymerase II promoter  signal transduction  beta-catenin binding  transcription factor binding  androgen metabolic process  zinc ion binding  gene expression  negative regulation of gene expression  membrane  integral to membrane  chromatin remodeling complex  enzyme binding  nitric-oxide synthase regulator activity  estrogen receptor activity  T-tubule  intracellular estrogen receptor signaling pathway  type 1 metabotropic glutamate receptor binding  response to estradiol stimulus  protein complex binding  estrogen response element binding  estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity  hormone binding  identical protein binding  regulation of apoptotic process  negative regulation of I-kappaB kinase/NF-kappaB cascade  terminal button  perikaryon  negative regulation of sequence-specific DNA binding transcription factor activity  response to estrogen stimulus  mitochondrial part  positive regulation of nitric oxide biosynthetic process  positive regulation of epidermal growth factor receptor signaling pathway  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  positive regulation of fibroblast proliferation  positive regulation of retinoic acid receptor signaling pathway  perinuclear region of cytoplasm  positive regulation of nitric-oxide synthase activity  positive regulation of sequence-specific DNA binding transcription factor activity  Sertoli cell proliferation  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  positive regulation of ERK1 and ERK2 cascade  cellular response to estrogen stimulus  
Ontology : EGO-EBIcore promoter sequence-specific DNA binding  antral ovarian follicle growth  epithelial cell development  osteoblast development  chromatin binding  sequence-specific DNA binding transcription factor activity  steroid hormone receptor activity  steroid binding  protein binding  nucleus  nucleoplasm  Golgi apparatus  plasma membrane  transcription, DNA-dependent  regulation of transcription, DNA-dependent  transcription initiation from RNA polymerase II promoter  signal transduction  beta-catenin binding  transcription factor binding  androgen metabolic process  zinc ion binding  gene expression  negative regulation of gene expression  membrane  integral to membrane  chromatin remodeling complex  enzyme binding  nitric-oxide synthase regulator activity  estrogen receptor activity  T-tubule  intracellular estrogen receptor signaling pathway  type 1 metabotropic glutamate receptor binding  response to estradiol stimulus  protein complex binding  estrogen response element binding  estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity  hormone binding  identical protein binding  regulation of apoptotic process  negative regulation of I-kappaB kinase/NF-kappaB cascade  terminal button  perikaryon  negative regulation of sequence-specific DNA binding transcription factor activity  response to estrogen stimulus  mitochondrial part  positive regulation of nitric oxide biosynthetic process  positive regulation of epidermal growth factor receptor signaling pathway  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  positive regulation of fibroblast proliferation  positive regulation of retinoic acid receptor signaling pathway  perinuclear region of cytoplasm  positive regulation of nitric-oxide synthase activity  positive regulation of sequence-specific DNA binding transcription factor activity  Sertoli cell proliferation  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  positive regulation of ERK1 and ERK2 cascade  cellular response to estrogen stimulus  
Pathways : BIOCARTARole of ERBB2 in Signal Transduction and Oncology [Genes]    Estrogen-responsive protein Efp controls cell cycle and breast tumors growth [Genes]    Pelp1 Modulation of Estrogen Receptor Activity [Genes]    CARM1 and Regulation of the Estrogen Receptor [Genes]    Downregulated of MTA-3 in ER-negative Breast Tumors [Genes]   
Other databases
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
PubGeneESR1
iHOPESR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:21:40 CEST 2013
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