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MGP000988

Record overview

MGPD IDMGP000988
Gene ID2099
SpeciesHomo sapiens (Human)
Gene Nameestrogen receptor 1
Gene Symbol ESR1
SynonymsER; ESR; Era; ESRA; ESTRR; NR3A1;
Alternate namesestrogen receptor; ER-alpha; estradiol receptor; estrogen nuclear receptor alpha; estrogen receptor alpha E1-E2-1-2; estrogen receptor alpha E1-N2-E2-1-2; nuclear receptor subfamily 3 group A member 1;
Chromosome6
Map Location6q25.1
SummaryThis 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]
OrthologsView orthologs and multiple alignments for ESR1

Proteins

estrogen receptor isoform 1
Refseq ID:NP_001116212
Protein GI:170295800
UniProt ID:P03372
mRNA ID:NM_001122740
Length:595
RefSeq Status:
MTMTLHTKASGMALLHQIQGNELEPLNRPQLKIPLERPLGEVYLDSSKPAVYNYPEGAAYEFNAAAAANAQVYGQTGLPYGPGSEAAAFGSNGLGGFPPL
NSVSPSPLMLLHPPPQLSPFLQPHGQQVPYYLENEPSGYTVREAGPPAFYRPNSDNRRQGGRERLASTNDKGSMAMESAKETRYCAVCNDYASGYHYGVW
SCEGCKAFFKRSIQGHNDYMCPATNQCTIDKNRRKSCQACRLRKCYEVGMMKGGIRKDRRGGRMLKHKRQRDDGEGRGEVGSAGDMRAANLWPSPLMIKR
SKKNSLALSLTADQMVSALLDAEPPILYSEYDPTRPFSEASMMGLLTNLADRELVHMINWAKRVPGFVDLTLHDQVHLLECAWLEILMIGLVWRSMEHPG
KLLFAPNLLLDRNQGKCVEGMVEIFDMLLATSSRFRMMNLQGEEFVCLKSIILLNSGVYTFLSSTLKSLEEKDHIHRVLDKITDTLIHLMAKAGLTLQQQ
HQRLAQLLLILSHIRHMSNKGMEHLYSMKCKNVVPLYDLLLEMLDAHRLHAPTSRGGASVEETDQSHLATAGSTSSHSLQKYYITGEAEGFPATV
 
estrogen receptor isoform 1
Refseq ID:NP_000116
Protein GI:62821794
UniProt ID:P03372
mRNA ID:NM_000125
Length:595
RefSeq Status:
Protein sequence is identical to GI:170295800 (mRNA isoform)
 
estrogen receptor isoform 1
Refseq ID:NP_001116214
Protein GI:170295804
UniProt ID:P03372
mRNA ID:NM_001122742
Length:595
RefSeq Status:
Protein sequence is identical to GI:170295800 (mRNA isoform)
 
estrogen receptor isoform 1
Refseq ID:NP_001116213
Protein GI:170295802
UniProt ID:P03372
mRNA ID:NM_001122741
Length:595
RefSeq Status:
Protein sequence is identical to GI:170295800 (mRNA isoform)
 
estrogen receptor isoform 2
Refseq ID:NP_001278159
Protein GI:601984548
UniProt ID:P03372
mRNA ID:NM_001291230
Length:597
RefSeq Status:
MTMTLHTKASGMALLHQIQGNELEPLNRPQLKIPLERPLGEVYLDSSKPAVYNYPEGAAYEFNAAAAANAQVYGQTGLPYGPGSEAAAFGSNGLGGFPPL
NSVSPSPLMLLHPPPQLSPFLQPHGQQVPYYLENEPSGYTVREAGPPAFYRPNSDNRRQGGRERLASTNDKGSMAMESAKETRYCAVCNDYASGYHYGVW
SCEGCKAFFKRSIQGNRHNDYMCPATNQCTIDKNRRKSCQACRLRKCYEVGMMKGGIRKDRRGGRMLKHKRQRDDGEGRGEVGSAGDMRAANLWPSPLMI
KRSKKNSLALSLTADQMVSALLDAEPPILYSEYDPTRPFSEASMMGLLTNLADRELVHMINWAKRVPGFVDLTLHDQVHLLECAWLEILMIGLVWRSMEH
PGKLLFAPNLLLDRNQGKCVEGMVEIFDMLLATSSRFRMMNLQGEEFVCLKSIILLNSGVYTFLSSTLKSLEEKDHIHRVLDKITDTLIHLMAKAGLTLQ
QQHQRLAQLLLILSHIRHMSNKGMEHLYSMKCKNVVPLYDLLLEMLDAHRLHAPTSRGGASVEETDQSHLATAGSTSSHSLQKYYITGEAEGFPATV
 
estrogen receptor isoform 3
Refseq ID:NP_001278170
Protein GI:602617469
UniProt ID:P03372
mRNA ID:NM_001291241
Length:594
RefSeq Status:
MTMTLHTKASGMALLHQIQGNELEPLNRPQLKIPLERPLGEVYLDSSKPAVYNYPEGAAYEFNAAAAANAQVYGQTGLPYGPGSEAAAFGSNGLGGFPPL
NSVSPSPLMLLHPPPQLSPFLQPHGQQVPYYLENEPSGYTVREAGPPAFYRPNSDNRRQGGRERLASTNDKGSMAMESAKETRYCAVCNDYASGYHYGVW
SCEGCKAFFKRSIQGHNDYMCPATNQCTIDKNRRKSCQACRLRKCYEVGMMKGIRKDRRGGRMLKHKRQRDDGEGRGEVGSAGDMRAANLWPSPLMIKRS
KKNSLALSLTADQMVSALLDAEPPILYSEYDPTRPFSEASMMGLLTNLADRELVHMINWAKRVPGFVDLTLHDQVHLLECAWLEILMIGLVWRSMEHPGK
LLFAPNLLLDRNQGKCVEGMVEIFDMLLATSSRFRMMNLQGEEFVCLKSIILLNSGVYTFLSSTLKSLEEKDHIHRVLDKITDTLIHLMAKAGLTLQQQH
QRLAQLLLILSHIRHMSNKGMEHLYSMKCKNVVPLYDLLLEMLDAHRLHAPTSRGGASVEETDQSHLATAGSTSSHSLQKYYITGEAEGFPATV
 
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