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Esr1
Gene Detail
Symbol

Name
ID
Esr1
estrogen receptor 1 (alpha)
MGI:1352467
Synonyms
ERa, ER[a], ERalpha, ER-alpha, ESR, Estr, Estra, Nr3a1
Feature Type
protein coding gene
Genetic Map
Chromosome 10
2.03 cM
Detailed Genetic Map ± 1 cM


Mapping data(12)
Sequence Map
Chr10:4611593-5005614 bp, + strand
From VEGA annotation of GRCm38

  394022 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:47906  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: ESR1
Protein SuperFamily: ER-like_NR
Gene Tree: Esr1

Human
homologs
ESR1, estrogen receptor 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 2099
neXtProt AC: NX_P03372

Human Synonyms: ER, Era, ESR, ESRA, ESTRR, NR3A1

Human Chr (Location): 6q25.1; chr6:151690496-152103274 (+)  GRCh38.p2

Disease Associations: (5) Diseases Associated with Human ESR1

Mutations,
alleles, and
phenotypes
All mutations/alleles(33) : Gene trapped(1) Targeted(30) Transgenic(2)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for targeted null mutations have reduced skeletal growth and are infertile. Females exhibit hypoplastic uteri and nonovulatory ovaries, while males produce few sperm of low motility and fertilizing capacity.
 
Human Diseases Modeled in Mice Using Esr1 (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(3)
Interactions
Esr1 interacts with 392 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (106 annotations)
Process androgen metabolic process, antral ovarian follicle growth, ...
Component cytoplasm, cytosol, ...
Function ATPase binding, beta-catenin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (61 records)
Data Summary: Results (611)    Tissues (412)    Images (58)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 173
RNA in situ 272
In situ reporter (knock in) 2
RT-PCR 164
cDNA source data(25)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA ESR1 ; Xenbase esr1 ; ZFIN esr1    NEW 
Molecular
reagents
All nucleic(45) Genomic(5) cDNA(30) Primer pair(8) Other(2)
Microarray probesets(9)
Other database
links
VEGA Gene Model OTTMUSG00000020886 (Evidence)
Ensembl Gene Model ENSMUSG00000019768 (Evidence)
Entrez Gene 13982 (Evidence)
DFCI TC1584052, TC1606765, TC1646616, TC1644244, TC1672805, TC1651684
DoTS DT.94245603, DT.91362571, DT.94254079, DT.91352685, DT.527869, DT.110614480, DT.489700, DT.110614470, DT.101348784, DT.101348783
Consensus CDS Project CCDS56678.1
International Mouse Phenotyping Consortium Status Esr1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000020886 VEGA Gene Model | MGI Sequence Detail 394022 C57BL/6J ±  kb
transcript OTTMUST00000049380 VEGA | MGI Sequence Detail 6339 Not Applicable 
polypeptide OTTMUSP00000022868 VEGA | MGI Sequence Detail 599 Not Applicable 

For the selected sequences
All sequences(121) RefSeq(23) UniProt(8)
Polymorphisms
RFLP(1) : SNPs within 2kb(1978 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008946 Nuclear hormone receptor, ligand-binding
InterPro IPR000536 Nuclear hormone receptor, ligand-binding, core
InterPro IPR001292 Oestrogen receptor
InterPro IPR024178 Oestrogen receptor/oestrogen-related receptor
InterPro IPR024736 Oestrogen-type nuclear receptor final C-terminal domain
InterPro IPR001723 Steroid hormone receptor
InterPro IPR013088 Zinc finger, NHR/GATA-type
InterPro IPR001628 Zinc finger, nuclear hormone receptor-type
Protein Ontology PR:000007204 estrogen receptor
References
(Earliest) J:113710 Greene GL, et al., Sequence and expression of human estrogen receptor complementary DNA. Science. 1986 Mar 7;231(4742):1150-4
(Latest) J:221928 Dubois SL, et al., Positive, but not negative feedback actions of estradiol in adult female mice require estrogen receptor alpha in kisspeptin neurons. Endocrinology. 2015 Mar;156(3):1111-20
All references(568)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-38393, MGD-MRK-9655, MGI:109348, MGI:2143478, MGI:3034239

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory