ID   Q9H2M1_HUMAN            Unreviewed;       334 AA.
AC   Q9H2M1;
DT   01-MAR-2001, integrated into UniProtKB/TrEMBL.
DT   01-MAR-2001, sequence version 1.
DT   27-MAR-2024, entry version 158.
DE   RecName: Full=Estrogen receptor {ECO:0000256|ARBA:ARBA00015934};
DE   AltName: Full=ER-alpha {ECO:0000256|ARBA:ARBA00031973};
DE   AltName: Full=Estradiol receptor {ECO:0000256|ARBA:ARBA00031699};
DE   AltName: Full=Nuclear receptor subfamily 3 group A member 1 {ECO:0000256|ARBA:ARBA00032418};
GN   Name=ESR1 {ECO:0000313|Ensembl:ENSP00000384064.1};
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606 {ECO:0000313|EMBL:AAG41359.1};
RN   [1] {ECO:0000313|EMBL:AAG41359.1}
RP   NUCLEOTIDE SEQUENCE.
RC   TISSUE=Breast {ECO:0000313|EMBL:AAG41359.1};
RX   PubMed=11004670;
RX   DOI=10.1002/1097-0215(20001015)88:2<209::AID-IJC10>3.0.CO;2-M;
RA   Anandappa S.Y., Sibson R., Platt-Higgins A., Winstanley J.H., Rudland P.S.,
RA   Barraclough R.;
RT   "Variant estrogen receptor alpha mRNAs in human breast cancer specimens.";
RL   Int. J. Cancer 88:209-216(2000).
RN   [2] {ECO:0000313|Ensembl:ENSP00000384064.1, ECO:0000313|Proteomes:UP000005640}
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=14574404; DOI=10.1038/nature02055;
RA   Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA   Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA   Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA   Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA   Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA   Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA   Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA   Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA   Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA   Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA   French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA   Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA   Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA   Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA   Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA   Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA   Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA   Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA   Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA   Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA   Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA   Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA   Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA   Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA   Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA   Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA   West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA   Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA   Bentley D.R., Coulson A., Durbin R., Hubbard T., Sulston J.E., Dunham I.,
RA   Rogers J., Beck S.;
RT   "The DNA sequence and analysis of human chromosome 6.";
RL   Nature 425:805-811(2003).
RN   [3] {ECO:0000313|Ensembl:ENSP00000384064.1}
RP   IDENTIFICATION.
RG   Ensembl;
RL   Submitted (NOV-2023) to UniProtKB.
CC   -!- SIMILARITY: Belongs to the nuclear hormone receptor family. NR3
CC       subfamily. {ECO:0000256|ARBA:ARBA00005413}.
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DR   EMBL; AL035695; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL049821; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL356311; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL590993; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; KF454881; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; KF458326; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; KF458327; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AF258450; AAG41359.1; -; mRNA.
DR   ProteomicsDB; 80566; -.
DR   Antibodypedia; 739; 4927 antibodies from 55 providers.
DR   Ensembl; ENST00000406599.5; ENSP00000384064.1; ENSG00000091831.25.
DR   UCSC; uc010kir.4; human.
DR   HGNC; HGNC:3467; ESR1.
DR   VEuPathDB; HostDB:ENSG00000091831; -.
DR   GeneTree; ENSGT00940000158133; -.
DR   HOGENOM; CLU_831438_0_0_1; -.
DR   ChiTaRS; ESR1; human.
DR   Proteomes; UP000005640; Chromosome 6.
DR   Bgee; ENSG00000091831; Expressed in oviduct epithelium and 160 other cell types or tissues.
DR   GO; GO:0005654; C:nucleoplasm; IEA:UniProt.
DR   GO; GO:0030284; F:nuclear estrogen receptor activity; IEA:InterPro.
DR   GO; GO:0003707; F:nuclear steroid receptor activity; NAS:UniProtKB.
DR   GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IEA:UniProt.
DR   GO; GO:0005496; F:steroid binding; IEA:UniProtKB-KW.
DR   GO; GO:0006355; P:regulation of DNA-templated transcription; IEA:InterPro.
DR   Gene3D; 1.10.565.10; Retinoid X Receptor; 1.
DR   InterPro; IPR001292; Estr_rcpt.
DR   InterPro; IPR046944; Estr_rcpt_N.
DR   InterPro; IPR035500; NHR-like_dom_sf.
DR   InterPro; IPR000536; Nucl_hrmn_rcpt_lig-bd.
DR   InterPro; IPR001723; Nuclear_hrmn_rcpt.
DR   InterPro; IPR024736; Oestrogen-typ_rcpt_final_C_dom.
DR   PANTHER; PTHR48092:SF16; ESTROGEN RECEPTOR; 1.
DR   PANTHER; PTHR48092; KNIRPS-RELATED PROTEIN-RELATED; 1.
DR   Pfam; PF12743; ESR1_C; 1.
DR   Pfam; PF00104; Hormone_recep; 1.
DR   Pfam; PF02159; Oest_recep; 1.
DR   PRINTS; PR00543; OESTROGENR.
DR   PRINTS; PR00398; STRDHORMONER.
DR   SUPFAM; SSF48508; Nuclear receptor ligand-binding domain; 1.
DR   PROSITE; PS51843; NR_LBD; 1.
PE   1: Evidence at protein level;
KW   DNA-binding {ECO:0000256|ARBA:ARBA00023125};
KW   Lipid-binding {ECO:0000256|ARBA:ARBA00022665};
KW   Nucleus {ECO:0000256|ARBA:ARBA00023242};
KW   Proteomics identification {ECO:0007829|EPD:Q9H2M1,
KW   ECO:0007829|MaxQB:Q9H2M1};
KW   Receptor {ECO:0000256|ARBA:ARBA00023170, ECO:0000313|EMBL:AAG41359.1};
KW   Reference proteome {ECO:0000313|Proteomes:UP000005640};
KW   Steroid-binding {ECO:0000256|ARBA:ARBA00022665};
KW   Transcription {ECO:0000256|ARBA:ARBA00023163};
KW   Transcription regulation {ECO:0000256|ARBA:ARBA00023015}.
FT   DOMAIN          1..286
FT                   /note="NR LBD"
FT                   /evidence="ECO:0000259|PROSITE:PS51843"
FT   REGION          292..312
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        297..312
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ   SEQUENCE   334 AA;  36685 MW;  135763A473757216 CRC64;
     MTMTLHTKAS GMALLHQIQG NELEPLNRPQ LKIPLERPLG EVYLDSSKPA VYNYPEGAAY
     EFNAAAAANA QVYGQTGLPY GPGSEAAAFG SNGLGGFPPL NSVSPSPLML LHPPPQLSPF
     LQPHGQQVPY YLENEPSGYT VREAGPPAFY RNQGKCVEGM VEIFDMLLAT SSRFRMMNLQ
     GEEFVCLKSI ILLNSGVYTF LSSTLKSLEE KDHIHRVLDK ITDTLIHLMA KAGLTLQQQH
     QRLAQLLLIL SHIRHMSNKG MEHLYSMKCK NVVPLYDLLL EMLDAHRLHA PTSRGGASVE
     ETDQSHLATA GSTSSHSLQK YYITGEAEGF PATV
//