GenAge entry for ESR1 (Homo sapiens)

Gene name (HAGRID: 216)

HGNC symbol
ESR1 
Aliases
NR3A1; Era; ESR 
Common name
estrogen receptor 1 

Potential relevance to the human ageing process

Main reason for selection
Entry selected based on evidence linking the gene product to the regulation or control of genes previously linked to ageing
Description

ESR1 is a transcription factor that mediates the actions of estrogen. Mice without ESR1 were infertile and showed a variety of changes [1193]. Polymorphisms in the human ESR1 gene have been associated with cardiovascular disease [1740]. ESR1 has also been found to be upregulated in Alzheimer's disease [1185]. A role for ESR1 in human ageing is plausible though at present largely obscure.

Cytogenetic information

Cytogenetic band
6q25.1
Location
151,807,678 bp to 152,103,273 bp
Orientation
Plus strand
Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology
Process: GO:0000122; negative regulation of transcription from RNA polymerase II promoter
GO:0001547; antral ovarian follicle growth
GO:0002064; epithelial cell development
GO:0006338; chromatin remodeling
GO:0006351; transcription, DNA-templated
GO:0006355; regulation of transcription, DNA-templated
GO:0006366; transcription from RNA polymerase II promoter
GO:0006367; transcription initiation from RNA polymerase II promoter
GO:0007165; signal transduction
GO:0007200; phospholipase C-activating G-protein coupled receptor signaling pathway
GO:0007204; positive regulation of cytosolic calcium ion concentration
GO:0008209; androgen metabolic process
GO:0008584; male gonad development
GO:0010629; negative regulation of gene expression
GO:0010863; positive regulation of phospholipase C activity
GO:0030518; intracellular steroid hormone receptor signaling pathway
GO:0030520; intracellular estrogen receptor signaling pathway
GO:0032355; response to estradiol
GO:0034121; regulation of toll-like receptor signaling pathway
GO:0042981; regulation of apoptotic process
GO:0043124; negative regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043433; negative regulation of sequence-specific DNA binding transcription factor activity
GO:0043627; response to estrogen
GO:0045893; positive regulation of transcription, DNA-templated
GO:0045944; positive regulation of transcription from RNA polymerase II promoter
GO:0048146; positive regulation of fibroblast proliferation
GO:0050727; regulation of inflammatory response
GO:0051091; positive regulation of sequence-specific DNA binding transcription factor activity
GO:0060065; uterus development
GO:0060068; vagina development
GO:0060523; prostate epithelial cord elongation
GO:0060527; prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis
GO:0060687; regulation of branching involved in prostate gland morphogenesis
GO:0060745; mammary gland branching involved in pregnancy
GO:0060749; mammary gland alveolus development
GO:0060750; epithelial cell proliferation involved in mammary gland duct elongation
GO:0071168; protein localization to chromatin
GO:0071391; cellular response to estrogen stimulus
GO:0071392; cellular response to estradiol stimulus
GO:1903799; negative regulation of production of miRNAs involved in gene silencing by miRNA
Cellular component: GO:0000790; nuclear chromatin
GO:0005634; nucleus
GO:0005654; nucleoplasm
GO:0005737; cytoplasm
GO:0005794; Golgi apparatus
GO:0005886; plasma membrane
GO:0016020; membrane
GO:0016021; integral component of membrane
GO:0035327; transcriptionally active chromatin
Function: GO:0000978; RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001046; core promoter sequence-specific DNA binding
GO:0001077; transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003682; chromatin binding
GO:0003700; transcription factor activity, sequence-specific DNA binding
GO:0003707; steroid hormone receptor activity
GO:0005496; steroid binding
GO:0005515; protein binding
GO:0008013; beta-catenin binding
GO:0008134; transcription factor binding
GO:0008270; zinc ion binding
GO:0019899; enzyme binding
GO:0030235; nitric-oxide synthase regulator activity
GO:0030284; estrogen receptor activity
GO:0034056; estrogen response element binding
GO:0038052; RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding
GO:0042802; identical protein binding
GO:0051117; ATPase binding
Hide GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge
SHC1, TP53, IGF1R, STAT3, STAT5A, IRS1, IRS2, AKT1, MYC, EGFR, ERBB2, FOS, HDAC3, PARP1, BRCA1, PTEN, CREBBP, HIF1A, NCOR1, HSP90AA1, TOP2A, TOP2B, TOP1, RAD51, UBE2I, EP300, EEF2, PRKDC, CAT, XRCC5, XRCC6, HSPA8, EMD, FOXO1, AIFM1, SIRT1, HDAC1, HSPD1, SP1, JUN, MED1, FOXO4, PIK3R1, TBP, HBP1, SIN3A, E2F1, HDAC2, MDM2, RELA, VCP, H2AFX, CEBPA, CEBPB, ESR1, CTNNB1, DBN1, PPP1CA, STUB1, PPARGC1A, NCOR2, CDKN1A, PIK3CA, CDK7
STRING interaction network
Protein-Protein network diagram for ESR1

Retrieve sequences for ESR1

Promoter
Promoter
ORF
ORF
CDS
CDS

Homologs in model organisms

Danio rerio
esr1
Mus musculus
Esr1
Rattus norvegicus
Esr1

In other databases

LongevityMap
  • This gene is present as ESR1
CellAge
  • This gene is present as ESR1

Selected references

External links

EPD
HS_ESR1
ORF Accession
NM_000125
CDS Accession
NP_000116
OMIM
133430
HPRD
00589
Ensembl
ESR1
UniProt/Swiss-Prot
ESR1_HUMAN
GeneCards
ESR1
Entrez Gene
2099
UniGene
208124
GenAtlas
ESR1
Internet
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