LOCUS       NM_001385570            6251 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens estrogen receptor 1 (ESR1), transcript variant 10,
            mRNA.
ACCESSION   NM_001385570 XM_006715374
VERSION     NM_001385570.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6251)
  AUTHORS   Liu,X., Matsuyama,Y., Sugiyama,M., Suyama,K., Nose,T.,
            Shimohigashi,M. and Shimohigashi,Y.
  TITLE     The N-terminal activation function AF-1 domain of ERalpha interacts
            directly with the C-terminal AF-2-holding ligand-binding domain to
            recruit the coactivator proteins
  JOURNAL   PLoS One 19 (10), e0312276 (2024)
   PUBMED   39432505
  REMARK    GeneRIF: The N-terminal activation function AF-1 domain of ERalpha
            interacts directly with the C-terminal AF-2-holding ligand-binding
            domain to recruit the coactivator proteins.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6251)
  AUTHORS   Aboelroos,S.A., Segaey,D.G.E., Elgawad,A.K.A., Orabi,M.,
            Mohamed,M.H. and Hassan,N.R.
  TITLE     Association of Estrogen Receptor-alpha and Aryl Hydrocarbon
            Receptor Gene Polymorphisms with Ischemic Stroke in an Egyptian
            Population: A Pilot Study
  JOURNAL   J Mol Neurosci 74 (3), 85 (2024)
   PUBMED   39264466
  REMARK    GeneRIF: Association of Estrogen Receptor-alpha and Aryl
            Hydrocarbon Receptor Gene Polymorphisms with Ischemic Stroke in an
            Egyptian Population: A Pilot Study.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 6251)
  AUTHORS   Zhuang,T., Zhang,S., Liu,D., Li,Z., Li,X., Li,J., Yang,P.,
            Zhang,C., Cui,J., Fu,M., Shen,F., Yuan,L., Zhang,Z., Su,P., Zhu,J.
            and Yang,H.
  TITLE     USP36 promotes tumorigenesis and tamoxifen resistance in breast
            cancer by deubiquitinating and stabilizing ERalpha
  JOURNAL   J Exp Clin Cancer Res 43 (1), 249 (2024)
   PUBMED   39215346
  REMARK    GeneRIF: USP36 promotes tumorigenesis and tamoxifen resistance in
            breast cancer by deubiquitinating and stabilizing ERalpha.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 6251)
  AUTHORS   Ishii,H., Kobayashi,M., Munetomo,A., Miyamoto,T. and Sakuma,Y.
  TITLE     Novel splicing events and post-transcriptional regulation of human
            estrogen receptor alpha E isoforms
  JOURNAL   J Steroid Biochem Mol Biol 133, 120-128 (2013)
   PUBMED   23032375
  REMARK    GeneRIF: the 5'-UTRs of the E isoforms post-transcriptionally
            control ERalpha expression mainly through translational repression
REFERENCE   5  (bases 1 to 6251)
  AUTHORS   Pentecost,B.T., Song,R., Luo,M., DePasquale,J.A. and Fasco,M.J.
  TITLE     Upstream regions of the estrogen receptor alpha proximal promoter
            transcript regulate ER protein expression through a translational
            mechanism
  JOURNAL   Mol Cell Endocrinol 229 (1-2), 83-94 (2005)
   PUBMED   15607532
REFERENCE   6  (bases 1 to 6251)
  AUTHORS   Kos,M., Denger,S., Reid,G. and Gannon,F.
  TITLE     Upstream open reading frames regulate the translation of the
            multiple mRNA variants of the estrogen receptor alpha
  JOURNAL   J Biol Chem 277 (40), 37131-37138 (2002)
   PUBMED   12147702
  REMARK    GeneRIF: Upstream open reading frames regulate the translation of
            the multiple mRNA variants
REFERENCE   7  (bases 1 to 6251)
  AUTHORS   Ing,N.H., Beekman,J.M., Tsai,S.Y., Tsai,M.J. and O'Malley,B.W.
  TITLE     Members of the steroid hormone receptor superfamily interact with
            TFIIB (S300-II)
  JOURNAL   J Biol Chem 267 (25), 17617-17623 (1992)
   PUBMED   1517211
REFERENCE   8  (bases 1 to 6251)
  AUTHORS   Piva,R., Gambari,R., Zorzato,F., Kumar,L. and del Senno,L.
  TITLE     Analysis of upstream sequences of the human estrogen receptor gene
  JOURNAL   Biochem Biophys Res Commun 183 (3), 996-1002 (1992)
   PUBMED   1567414
REFERENCE   9  (bases 1 to 6251)
  AUTHORS   Keaveney,M., Klug,J. and Gannon,F.
  TITLE     Sequence analysis of the 5' flanking region of the human estrogen
            receptor gene
  JOURNAL   DNA Seq 2 (6), 347-358 (1992)
   PUBMED   1476547
  REMARK    Erratum:[DNA Seq 1992;3(3):201]
REFERENCE   10 (bases 1 to 6251)
  AUTHORS   Keaveney,M., Klug,J., Dawson,M.T., Nestor,P.V., Neilan,J.G.,
            Forde,R.C. and Gannon,F.
  TITLE     Evidence for a previously unidentified upstream exon in the human
            oestrogen receptor gene
  JOURNAL   J Mol Endocrinol 6 (1), 111-115 (1991)
   PUBMED   2015052
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL035695.17, AL356311.6,
            AL590993.14, AL049821.6 and AL078582.13.
            
            On Jul 20, 2020 this sequence version replaced XM_006715374.3.
            
            Summary: This gene encodes an estrogen receptor and
            ligand-activated transcription factor. The canonical protein
            contains an N-terminal ligand-independent transactivation domain, a
            central DNA binding domain, a hinge domain, and a C-terminal
            ligand-dependent transactivation domain. The protein localizes to
            the nucleus where it may form either a homodimer or a heterodimer
            with estrogen receptor 2. The protein encoded by this gene
            regulates the transcription of many estrogen-inducible genes that
            play a role in growth, metabolism, sexual development, gestation,
            and other reproductive functions and is expressed in many
            non-reproductive tissues. The receptor encoded by this gene plays a
            key role in breast cancer, endometrial cancer, and osteoporosis.
            This gene is reported to have dozens of transcript variants due to
            the use of alternate promoters and alternative splicing, however,
            the full-length nature of many of these variants remain uncertain.
            [provided by RefSeq, Jul 2020].
            
            Transcript Variant: This variant (10) differs in the 5' UTR, uses a
            different promoter and lacks an exon in the 3' coding region,
            compared to variant 1. It encodes isoform 5 which has a distinct
            C-terminus compared to isoform 1. Variants 10-12 encode the same
            isoform (5).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.1957287.1,
                                           SRR14038192.3556597.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142680
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-138               AL035695.17        67738-67875         c
            139-269             AL035695.17        56397-56527         c
            270-791             AL356311.6         49542-50063
            792-982             AL590993.14        18950-19140
            983-1099            AL590993.14        57008-57124
            1100-1435           AL590993.14        120526-120861
            1436-1574           AL049821.6         50322-50460
            1575-1708           AL078582.13        12052-12185
            1709-6251           AL078582.13        49793-54335
FEATURES             Location/Qualifiers
     source          1..6251
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.1-q25.2"
     gene            1..6251
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="estrogen receptor 1"
                     /db_xref="GeneID:2099"
                     /db_xref="HGNC:HGNC:3467"
                     /db_xref="MIM:133430"
     exon            1..138
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /inference="alignment:Splign:2.1.0"
     exon            139..269
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /inference="alignment:Splign:2.1.0"
     exon            270..791
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /inference="alignment:Splign:2.1.0"
     CDS             340..1740
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="isoform 5 is encoded by transcript variant 10;
                     ER-alpha; estradiol receptor; nuclear receptor subfamily 3
                     group A member 1; estrogen nuclear receptor alpha;
                     estrogen receptor alpha E1-E2-1-2; estrogen receptor alpha
                     E1-N2-E2-1-2; oestrogen receptor alpha; E2 receptor alpha"
                     /codon_start=1
                     /product="estrogen receptor isoform 5"
                     /protein_id="NP_001372499.1"
                     /db_xref="GeneID:2099"
                     /db_xref="HGNC:HGNC:3467"
                     /db_xref="MIM:133430"
                     /translation="MTMTLHTKASGMALLHQIQGNELEPLNRPQLKIPLERPLGEVYL
                     DSSKPAVYNYPEGAAYEFNAAAAANAQVYGQTGLPYGPGSEAAAFGSNGLGGFPPLNS
                     VSPSPLMLLHPPPQLSPFLQPHGQQVPYYLENEPSGYTVREAGPPAFYRPNSDNRRQG
                     GRERLASTNDKGSMAMESAKETRYCAVCNDYASGYHYGVWSCEGCKAFFKRSIQGHND
                     YMCPATNQCTIDKNRRKSCQACRLRKCYEVGMMKGGIRKDRRGGRMLKHKRQRDDGEG
                     RGEVGSAGDMRAANLWPSPLMIKRSKKNSLALSLTADQMVSALLDAEPPILYSEYDPT
                     RPFSEASMMGLLTNLADRELVHMINWAKRVPGFVDLTLHDQVHLLECAWLEILMIGLV
                     WRSMEHPGKLLFAPNLLLDRNQGKCVEGMVEIFDMLLATSSRFRMMNLQGEEFVCLKS
                     IILLNSVTKAWSICTA"
     exon            792..982
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1099
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1100..1435
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1436..1574
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1575..1708
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1709..6251
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6233..6238
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="hexamer: AATAAA"
     polyA_site      6251
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="major polyA site"
ORIGIN      
        1 agaacggatt ttaccaaaac tgaaaatgca ggctccatgc tcagaagctc tttaacaggc
       61 tcgaaaggtc catgctcctt tctcctgccc attctatagc ataagaagac agtctctgag
      121 tgataatctt ctcttcaaga agaagaaaac taggaaggag taagcacaaa gatctcttca
      181 cattctccgg gactgcggta ccaaatatca gcacagcact tcttgaaaaa ggatgtagat
      241 tttaatctga actttgaacc atcactgagg tggcccgccg gtttctgagc cttctgccct
      301 gcggggacac ggtctgcacc ctgcccgcgg ccacggacca tgaccatgac cctccacacc
      361 aaagcatctg ggatggccct actgcatcag atccaaggga acgagctgga gcccctgaac
      421 cgtccgcagc tcaagatccc cctggagcgg cccctgggcg aggtgtacct ggacagcagc
      481 aagcccgccg tgtacaacta ccccgagggc gccgcctacg agttcaacgc cgcggccgcc
      541 gccaacgcgc aggtctacgg tcagaccggc ctcccctacg gccccgggtc tgaggctgcg
      601 gcgttcggct ccaacggcct ggggggtttc cccccactca acagcgtgtc tccgagcccg
      661 ctgatgctac tgcacccgcc gccgcagctg tcgcctttcc tgcagcccca cggccagcag
      721 gtgccctact acctggagaa cgagcccagc ggctacacgg tgcgcgaggc cggcccgccg
      781 gcattctaca ggccaaattc agataatcga cgccagggtg gcagagaaag attggccagt
      841 accaatgaca agggaagtat ggctatggaa tctgccaagg agactcgcta ctgtgcagtg
      901 tgcaatgact atgcttcagg ctaccattat ggagtctggt cctgtgaggg ctgcaaggcc
      961 ttcttcaaga gaagtattca aggacataac gactatatgt gtccagccac caaccagtgc
     1021 accattgata aaaacaggag gaagagctgc caggcctgcc ggctccgtaa atgctacgaa
     1081 gtgggaatga tgaaaggtgg gatacgaaaa gaccgaagag gagggagaat gttgaaacac
     1141 aagcgccaga gagatgatgg ggagggcagg ggtgaagtgg ggtctgctgg agacatgaga
     1201 gctgccaacc tttggccaag cccgctcatg atcaaacgct ctaagaagaa cagcctggcc
     1261 ttgtccctga cggccgacca gatggtcagt gccttgttgg atgctgagcc cccgatactc
     1321 tattccgagt atgatcctac cagacccttc agtgaagctt cgatgatggg cttactgacc
     1381 aacctggcag acagggagct ggttcacatg atcaactggg cgaagagggt gccaggcttt
     1441 gtggatttga ccctccatga tcaggtccac cttctagaat gtgcctggct agagatcctg
     1501 atgattggtc tcgtctggcg ctccatggag cacccaggga agctactgtt tgctcctaac
     1561 ttgctcttgg acaggaacca gggaaaatgt gtagagggca tggtggagat cttcgacatg
     1621 ctgctggcta catcatctcg gttccgcatg atgaatctgc agggagagga gtttgtgtgc
     1681 ctcaaatcta ttattttgct taattctgta acaaaggcat ggagcatctg tacagcatga
     1741 agtgcaagaa cgtggtgccc ctctatgacc tgctgctgga gatgctggac gcccaccgcc
     1801 tacatgcgcc cactagccgt ggaggggcat ccgtggagga gacggaccaa agccacttgg
     1861 ccactgcggg ctctacttca tcgcattcct tgcaaaagta ttacatcacg ggggaggcag
     1921 agggtttccc tgccacggtc tgagagctcc ctggctccca cacggttcag ataatccctg
     1981 ctgcatttta ccctcatcat gcaccacttt agccaaattc tgtctcctgc atacactccg
     2041 gcatgcatcc aacaccaatg gctttctaga tgagtggcca ttcatttgct tgctcagttc
     2101 ttagtggcac atcttctgtc ttctgttggg aacagccaaa gggattccaa ggctaaatct
     2161 ttgtaacagc tctctttccc ccttgctatg ttactaagcg tgaggattcc cgtagctctt
     2221 cacagctgaa ctcagtctat gggttggggc tcagataact ctgtgcattt aagctacttg
     2281 tagagaccca ggcctggaga gtagacattt tgcctctgat aagcactttt taaatggctc
     2341 taagaataag ccacagcaaa gaatttaaag tggctccttt aattggtgac ttggagaaag
     2401 ctaggtcaag ggtttattat agcaccctct tgtattccta tggcaatgca tccttttatg
     2461 aaagtggtac accttaaagc ttttatatga ctgtagcaga gtatctggtg attgtcaatt
     2521 cattccccct ataggaatac aaggggcaca cagggaaggc agatccccta gttggcaaga
     2581 ctattttaac ttgatacact gcagattcag atgtgctgaa agctctgcct ctggctttcc
     2641 ggtcatgggt tccagttaat tcatgcctcc catggaccta tggagagcag caagttgatc
     2701 ttagttaagt ctccctatat gagggataag ttcctgattt ttgtttttat ttttgtgtta
     2761 caaaagaaag ccctccctcc ctgaacttgc agtaaggtca gcttcaggac ctgttccagt
     2821 gggcactgta cttggatctt cccggcgtgt gtgtgcctta cacaggggtg aactgttcac
     2881 tgtggtgatg catgatgagg gtaaatggta gttgaaagga gcaggggccc tggtgttgca
     2941 tttagccctg gggcatggag ctgaacagta cttgtgcagg attgttgtgg ctactagaga
     3001 acaagaggga aagtagggca gaaactggat acagttctga ggcacagcca gacttgctca
     3061 gggtggccct gccacaggct gcagctacct aggaacattc cttgcagacc ccgcattgcc
     3121 ctttgggggt gccctgggat ccctggggta gtccagctct tcttcatttc ccagcgtggc
     3181 cctggttgga agaagcagct gtcacagctg ctgtagacag ctgtgttcct acaattggcc
     3241 cagcaccctg gggcacggga gaagggtggg gaccgttgct gtcactactc aggctgactg
     3301 gggcctggtc agattacgta tgcccttggt ggtttagaga taatccaaaa tcagggtttg
     3361 gtttggggaa gaaaatcctc ccccttcctc ccccgccccg ttccctaccg cctccactcc
     3421 tgccagctca tttccttcaa tttcctttga cctataggct aaaaaagaaa ggctcattcc
     3481 agccacaggg cagccttccc tgggcctttg cttctctagc acaattatgg gttacttcct
     3541 ttttcttaac aaaaaagaat gtttgatttc ctctgggtga ccttattgtc tgtaattgaa
     3601 accctattga gaggtgatgt ctgtgttagc caatgaccca ggtgagctgc tcgggcttct
     3661 cttggtatgt cttgtttgga aaagtggatt tcattcattt ctgattgtcc agttaagtga
     3721 tcaccaaagg actgagaatc tgggagggca aaaaaaaaaa aaaagttttt atgtgcactt
     3781 aaatttgggg acaattttat gtatctgtgt taaggatatg tttaagaaca taattctttt
     3841 gttgctgttt gtttaagaag caccttagtt tgtttaagaa gcaccttata tagtataata
     3901 tatatttttt tgaaattaca ttgcttgttt atcagacaat tgaatgtagt aattctgttc
     3961 tggatttaat ttgactgggt taacatgcaa aaaccaagga aaaatattta gttttttttt
     4021 ttttttttgt atacttttca agctaccttg tcatgtatac agtcatttat gcctaaagcc
     4081 tggtgattat tcatttaaat gaagatcaca tttcatatca acttttgtat ccacagtaga
     4141 caaaatagca ctaatccaga tgcctattgt tggatactga atgacagaca atcttatgta
     4201 gcaaagatta tgcctgaaaa ggaaaattat tcagggcagc taattttgct tttaccaaaa
     4261 tatcagtagt aatatttttg gacagtagct aatgggtcag tgggttcttt ttaatgttta
     4321 tacttagatt ttcttttaaa aaaattaaaa taaaacaaaa aaaaatttct aggactagac
     4381 gatgtaatac cagctaaagc caaacaatta tacagtggaa ggttttacat tattcatcca
     4441 atgtgtttct attcatgtta agatactact acatttgaag tgggcagaga acatcagatg
     4501 attgaaatgt tcgcccaggg gtctccagca actttggaaa tctctttgta tttttacttg
     4561 aagtgccact aatggacagc agatattttc tggctgatgt tggtattggg tgtaggaaca
     4621 tgatttaaaa aaaaactctt gcctctgctt tcccccactc tgaggcaagt taaaatgtaa
     4681 aagatgtgat ttatctgggg ggctcaggta tggtggggaa gtggattcag gaatctgggg
     4741 aatggcaaat atattaagaa gagtattgaa agtatttgga ggaaaatggt taattctggg
     4801 tgtgcaccag ggttcagtag agtccacttc tgccctggag accacaaatc aactagctcc
     4861 atttacagcc atttctaaaa tggcagcttc agttctagag aagaaagaac aacatcagca
     4921 gtaaagtcca tggaatagct agtggtctgt gtttcttttc gccattgcct agcttgccgt
     4981 aatgattcta taatgccatc atgcagcaat tatgagaggc taggtcatcc aaagagaaga
     5041 ccctatcaat gtaggttgca aaatctaacc cctaaggaag tgcagtcttt gatttgattt
     5101 ccctagtaac cttgcagata tgtttaacca agccatagcc catgcctttt gagggctgaa
     5161 caaataaggg acttactgat aatttacttt tgatcacatt aaggtgttct caccttgaaa
     5221 tcttatacac tgaaatggcc attgatttag gccactggct tagagtactc cttcccctgc
     5281 atgacactga ttacaaatac tttcctattc atactttcca attatgagat ggactgtggg
     5341 tactgggagt gatcactaac accatagtaa tgtctaatat tcacaggcag atctgcttgg
     5401 ggaagctagt tatgtgaaag gcaaatagag tcatacagta gctcaaaagg caaccataat
     5461 tctctttggt gcaggtcttg ggagcgtgat ctagattaca ctgcaccatt cccaagttaa
     5521 tcccctgaaa acttactctc aactggagca aatgaacttt ggtcccaaat atccatcttt
     5581 tcagtagcgt taattatgct ctgtttccaa ctgcatttcc tttccaattg aattaaagtg
     5641 tggcctcgtt tttagtcatt taaaattgtt ttctaagtaa ttgctgcctc tattatggca
     5701 cttcaatttt gcactgtctt ttgagattca agaaaaattt ctattctttt ttttgcatcc
     5761 aattgtgcct gaacttttaa aatatgtaaa tgctgccatg ttccaaaccc atcgtcagtg
     5821 tgtgtgttta gagctgtgca ccctagaaac aacatattgt cccatgagca ggtgcctgag
     5881 acacagaccc ctttgcattc acagagaggt cattggttat agagacttga attaataagt
     5941 gacattatgc cagtttctgt tctctcacag gtgataaaca atgctttttg tgcactacat
     6001 actcttcagt gtagagctct tgttttatgg gaaaaggctc aaatgccaaa ttgtgtttga
     6061 tggattaata tgcccttttg ccgatgcata ctattactga tgtgactcgg ttttgtcgca
     6121 gctttgcttt gtttaatgaa acacacttgt aaacctcttt tgcactttga aaaagaatcc
     6181 agcgggatgc tcgagcacct gtaaacaatt ttctcaacct atttgatgtt caaataaaga
     6241 attaaactaa a
//
