Homo sapiens Gene: ESR1
Summary
InnateDB Gene IDBG-97997.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ESR1
Gene Name estrogen receptor 1
Synonyms ER; Era; ESR; ESRA; ESTRR; NR3A1
Species Homo sapiens
Ensembl Gene ENSG00000091831
Encoded Proteins
estrogen receptor 1
estrogen receptor 1
estrogen receptor 1
estrogen receptor 1
estrogen receptor 1
estrogen receptor 1
estrogen receptor 1
estrogen receptor 1
estrogen receptor 1
estrogen receptor 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:151656691-152129619
Strand Forward strand
Band q25.1
Transcripts
ENST00000206249 ENSP00000206249
ENST00000338799 ENSP00000342630
ENST00000406599 ENSP00000384064
ENST00000404742 ENSP00000385373
ENST00000440973 ENSP00000405330
ENST00000446550 ENSP00000411105
ENST00000443427 ENSP00000387500
ENST00000456483 ENSP00000415934
ENST00000427531 ENSP00000394721
ENST00000415488 ENSP00000401995
ENST00000473497
ENST00000488573
ENST00000482101
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 764 experimentally validated interaction(s) in this database.
They are also associated with 19 interaction(s) predicted by orthology.
Experimentally validated
Total 764 [view]
Protein-Protein 728 [view]
Protein-DNA 27 [view]
Protein-RNA 1 [view]
DNA-DNA 8 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 19 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001046 core promoter sequence-specific DNA binding
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003707 steroid hormone receptor activity
GO:0004879 ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor 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 estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0042802 identical protein binding
GO:0043565 sequence-specific DNA binding
Biological Process
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: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:0010467 gene expression
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:0042981 regulation of apoptotic process
GO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043401 steroid hormone mediated signaling pathway
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity
GO:0043627 response to estrogen
GO:0045429 positive regulation of nitric oxide biosynthetic process
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048146 positive regulation of fibroblast proliferation
GO:0048386 positive regulation of retinoic acid receptor signaling pathway
GO:0051000 positive regulation of nitric-oxide synthase activity
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:0071391 cellular response to estrogen stimulus
GO:0071392 cellular response to estradiol stimulus
Cellular Component
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
AndrogenReceptor pathway
TGF_beta_Receptor pathway
Leptin pathway
Prolactin pathway
REACTOME
Nuclear signaling by ERBB4 pathway
Signaling by ERBB4 pathway
Nuclear Receptor transcription pathway pathway
Generic Transcription Pathway pathway
Signal Transduction pathway
Gene Expression pathway
KEGG
INOH
PID NCI
Validated nuclear estrogen receptor alpha network
ATF-2 transcription factor network
LKB1 signaling events
AP-1 transcription factor network
Signaling events mediated by HDAC Class II
Regulation of nuclear SMAD2/3 signaling
Signaling mediated by p38-alpha and p38-beta
Plasma membrane estrogen receptor signaling
FOXM1 transcription factor network
FOXA1 transcription factor network
Regulation of Telomerase
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.208124 Hs.605516 Hs.630134
RefSeq NM_000125 NM_001122740 NM_001122741 NM_001122742 NM_001291230 NM_001291241 XM_006715375
HUGO
OMIM
CCDS CCDS5234
HPRD 00589
IMGT
EMBL
GenPept
RNA Seq Atlas