LOCUS       NM_001328100            5436 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens estrogen receptor 1 (ESR1), transcript variant 7,
            mRNA.
ACCESSION   NM_001328100
VERSION     NM_001328100.2
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 5436)
  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 5436)
  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 5436)
  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 5436)
  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 5436)
  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 5436)
  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 5436)
  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 5436)
  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 5436)
  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 5436)
  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 AL356311.6, AL590993.14,
            AL049821.6 and AL078582.13.
            
            On Jun 2, 2019 this sequence version replaced NM_001328100.1.
            
            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 (7) differs in the both UTRs, has
            a shorter 5' coding region and differs in the 3' coding region
            compared to variant 1. The encoded isoform (4) is shorter at the
            N-terminus and has a distinct C-terminus compared to isoform 1.
            
            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 :: BX640939.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-165               AL356311.6         50806-50970
            166-356             AL590993.14        18950-19140
            357-473             AL590993.14        57008-57124
            474-809             AL590993.14        120526-120861
            810-948             AL049821.6         50322-50460
            949-1082            AL078582.13        12052-12185
            1083-5436           AL078582.13        76327-80680
FEATURES             Location/Qualifiers
     source          1..5436
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.1-q25.2"
     gene            1..5436
                     /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..165
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /inference="alignment:Splign:2.1.0"
     exon            166..356
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /inference="alignment:Splign:2.1.0"
     CDS             233..1165
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="isoform 4 is encoded by transcript variant 7;
                     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 4"
                     /protein_id="NP_001315029.1"
                     /db_xref="CCDS:CCDS87457.1"
                     /db_xref="GeneID:2099"
                     /db_xref="HGNC:HGNC:3467"
                     /db_xref="MIM:133430"
                     /translation="MAMESAKETRYCAVCNDYASGYHYGVWSCEGCKAFFKRSIQGHN
                     DYMCPATNQCTIDKNRRKSCQACRLRKCYEVGMMKGGIRKDRRGGRMLKHKRQRDDGE
                     GRGEVGSAGDMRAANLWPSPLMIKRSKKNSLALSLTADQMVSALLDAEPPILYSEYDP
                     TRPFSEASMMGLLTNLADRELVHMINWAKRVPGFVDLTLHDQVHLLECAWLEILMIGL
                     VWRSMEHPGKLLFAPNLLLDRNQGKCVEGMVEIFDMLLATSSRFRMMNLQGEEFVCLK
                     SIILLNSGISHVEAKKRILNLHPKIFGNKWFPRV"
     exon            357..473
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /inference="alignment:Splign:2.1.0"
     exon            474..809
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /inference="alignment:Splign:2.1.0"
     exon            810..948
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /inference="alignment:Splign:2.1.0"
     exon            949..1082
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1083..5436
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gcttaaaaat aatctcctgc cagcccagtg acaagcctgt cccacccggg gagaatgccc
       61 cggagtggcg tgcgggtcag ccagggtctg cgcctcgcag ccactgtgga aggagcgcgg
      121 ccggtccagg acacaggaga ccactttgtg acttcaatgg cgaaggccaa attcagataa
      181 tcgacgccag ggtggcagag aaagattggc cagtaccaat gacaagggaa gtatggctat
      241 ggaatctgcc aaggagactc gctactgtgc agtgtgcaat gactatgctt caggctacca
      301 ttatggagtc tggtcctgtg agggctgcaa ggccttcttc aagagaagta ttcaaggaca
      361 taacgactat atgtgtccag ccaccaacca gtgcaccatt gataaaaaca ggaggaagag
      421 ctgccaggcc tgccggctcc gtaaatgcta cgaagtggga atgatgaaag gtgggatacg
      481 aaaagaccga agaggaggga gaatgttgaa acacaagcgc cagagagatg atggggaggg
      541 caggggtgaa gtggggtctg ctggagacat gagagctgcc aacctttggc caagcccgct
      601 catgatcaaa cgctctaaga agaacagcct ggccttgtcc ctgacggccg accagatggt
      661 cagtgccttg ttggatgctg agcccccgat actctattcc gagtatgatc ctaccagacc
      721 cttcagtgaa gcttcgatga tgggcttact gaccaacctg gcagacaggg agctggttca
      781 catgatcaac tgggcgaaga gggtgccagg ctttgtggat ttgaccctcc atgatcaggt
      841 ccaccttcta gaatgtgcct ggctagagat cctgatgatt ggtctcgtct ggcgctccat
      901 ggagcaccca gggaagctac tgtttgctcc taacttgctc ttggacagga accagggaaa
      961 atgtgtagag ggcatggtgg agatcttcga catgctgctg gctacatcat ctcggttccg
     1021 catgatgaat ctgcagggag aggagtttgt gtgcctcaaa tctattattt tgcttaattc
     1081 tggtatctca catgtagaag caaagaagag aatcctgaac ttgcatccta aaatatttgg
     1141 aaacaagtgg tttcctcgtg tctaaagcct ctggtcataa ggcctcacag tatcctgcag
     1201 atcatcaaat ccgtgtgtgg acgtggggac attttgtttt gaggcagtta catgaccatg
     1261 ggcaagtaaa ttagtctctc tggccttcag ttttctcatt tgcaatgatt caatggtttg
     1321 ccttaaagtg tcttaagaag gataggatag ctacccacaa actttggatc aaattttctt
     1381 caaaacatcc ttcccctgac tttaaaatat gccctggcaa ccaacactca acacctgtag
     1441 ctagatgagt tataacagag tgactgaaga gagctcccac aattcctagt tattaaatac
     1501 ctgactaatt ttcattagga gacatttaag aactttagtg atgggaagat ttacatatat
     1561 aattgatagt acaatctgac agagctgaat agctcctgtt tgtcaactgt taaattcttt
     1621 gtgcaattag gtcaaagatc aagatcaaaa caagggctgc ccattgacct gttcactcct
     1681 gagaaaaatg gcaaaccatt gaatcataaa tcatgacagc caaaataatt ttaggatatt
     1741 aatgcacccc tcatctttgc aaatgagaaa actgaaggcc agagagacta atttacttgc
     1801 ccatttttga taaaaatgtc accatttaca gaatgtggac tcctatgttg gagtctgttg
     1861 aaggacatgg cacatttaac agcatcagag cattttttat taaaatttaa tttgtgcatg
     1921 acttctaatg ctgaagaacg ccaagctagg aagaagtcat gggctgagat ggggacagag
     1981 agaacacaca atattcagtg actgtccgtg cagctggctg cccttgaaaa tatccgaact
     2041 atccactggg aaaatgcctg tccccttggg gtaattacca gagtttcaac atgcccaaag
     2101 ctgcctcatc ttcaggggga acttgttcta gcgattttag tatcaagaag ctaatggtcc
     2161 cagggaaagg gttattttta atatttagct actgtgctaa aaatcaccta agtttctaga
     2221 gtcttgggaa atttcataag ggaaagaaca aaggcaactt gttgactacc cactggtcat
     2281 tctcctctgg tcttattaca tacatggatg ccagtttaga ttgtgtttat ataggaaaaa
     2341 ttaaatgtgt gagcctcctt aaggaacatc atcaatacag atatatcaga tagttctgtc
     2401 cagcaaaaaa cgtgcttatt tgctacaagt aaatttttat ttatttttct cacttccctc
     2461 actccttcaa atttccaggt aaatagctgc ccaggagttg cttcatctct gtcccaaaat
     2521 acctagacaa ttgcgggata aggagaatgg cagggaggga gtagtggcta aaatcacacc
     2581 cttcaaaaga aagtgtgtag gacacacaat tgtgagaagt ctgaatgcca tgcacatagg
     2641 gtatgactca ctttgaaaat tgtttataat caaggaaatg aaaatgagtt aatttcgtgc
     2701 atgcatcatt taaagccaaa tgagaagaaa cttctaattt attttgttac ttttcggcta
     2761 acactggcag tatgtaacag atttattttg cagaaacatc tagattgtcc gtgatcttga
     2821 tcctgccctt atgtgtcttg tctttgaaac ccagtgtttc ctggatatat ggttcaggag
     2881 acaagtttcc agaatcaagt taggacccag gtcttctttt tttccaaacc aaacattctt
     2941 gctaatccta aactacctga ggcagcctgt ggtggcctca gctctaaaac cattgtttaa
     3001 aggcttctac ccatcaatgg cccttcagca gagtggtacg gttaacgggg tagggtctgg
     3061 agtcagggga gacctgggtt caaatcctac atctttacac ctctaatccc cagtgtcctt
     3121 gtctataaat tgggaatata gccatgtcat gggattcttg tgagggttaa atgaggtaaa
     3181 acacatacaa tgcttagcat gtatacaatt aagcactaaa taattgaaac acattaagta
     3241 ctaaatgaat gtcagcagct tatcactatt atctgtataa tgataccaag ggtgtgccga
     3301 ctcataccct taggggttgg ctggattcgg ccttttctct cgggaaaaca tacctgattt
     3361 attaatagtg ctttcaagca tgtgataaat ttctcaaact gcctgtcttg ttccctagaa
     3421 acaccaggaa ggcctacctc aaatagcaac agagaaacct atcggagcct taccctacag
     3481 ctttccttgg ggcacgggtg agcaatctgc cttagagggg agaggctctg tgctgaggct
     3541 ctttgaatgc tttgaataaa tagatcccca gataatgaaa agacttcaaa acaaattcta
     3601 caagaaactg agtagtgttt atagtgaggc cctagtgtac atgcaaaaaa cccccactgc
     3661 ccttgcttaa atgtatctga ttaacttgaa tacattttta aatgagggct tttttccctc
     3721 tttcagtgtt tcggccagtc atttgccact tctcattcca tcttagttct ctgtaaagaa
     3781 ggtgccagag acctaaggtg cccaaggcaa ttttgcattt tacaattcta agctttagaa
     3841 tgaagtcatc aatttgctac atccggacta cagtgcaatt attcctttgc cttgctggaa
     3901 attggagtga aatctttcta gctgtcaatt tcaactcagt tgcagtagtg ttttgaagaa
     3961 ttaatggcga taaggttaga aaattttaag tcaaacgtag ggaaaaagta ccagctagac
     4021 catcataagc atttgctttg aaagcatgct tctaaagtgt gtttaacctc aaataacagt
     4081 cacaaatatg gttattatga atgtatgcac agatttttat gtttctaatt ttaagaagtt
     4141 ctagggagct ccctgtaacg atttagggaa tctctagatt ctgatatact gcaagtcttt
     4201 taatggtagg aatcacattg aattaatttt gtaggcccag ggcctaaatt tagtaggtgt
     4261 tcagtaccta ttggcatcaa ttcatatgta ggtttaaaat actgtatgaa gatacagaat
     4321 caccaccatc aaatcaaatt gaaatatgta acaggctagt ataatattaa catctgactt
     4381 taaacaacaa caaagaaacc aaatgagtaa ctcctccctt caaactaata gtcagtttct
     4441 tccaactcag tctctttctc ctctcaggaa gaatgcgtat ctaaaaattt cccattgcag
     4501 actgctggaa acaacattct aaactattta tgcttctgca ataacctttc caatttgctg
     4561 gaccagtgca agattaaaca cgagatatct caagtctcaa tgtaaaggaa caccacgaca
     4621 gcctggactg tgggtgaagt tcattcttcc ccagcagact ctgcctttca ttctcggggt
     4681 tgggtgtgcc ccaaacagag gtaccgacgg taacgaagcc caagaatgtt caaccacaac
     4741 ctgtctgtga aggtgttgga tgacgtttgc cattcaggtg aagattattt atgttccagt
     4801 cccacctgag tagcaaagtg aacactgtgc tgaatgctca gaaagatgtt aatgaaccgt
     4861 gctggacaga gcagagctga aaggcgcctt gcgagtgtcg tagtgagaat gtggctgtcc
     4921 cagctgcaaa gccctgttag gaggcatgag gaagcacttg ctgccctaag aaacgatgcc
     4981 ttcgacattt tcaaaagatc tatgtggctg tctgaaacaa tgcggagagc agatagacgc
     5041 aatatttggg aaccaaagag tgactgctgt tggcgttgca tcataacata agcgctttcc
     5101 cccttctcgt cactatcatt tgtatcaacc aaagaactga tctctggtat cctcgaagga
     5161 atgctgtggg gatattcttc atctctgttc atggtacatc agcaatttgt ggggaaaaga
     5221 tggactatat aacacaatga tctgcctaaa agaaactgtc tctacttata gggggctgag
     5281 caaaccttag agcatctgcg gatgctcgtc attatcttca aaagtcccca agagtttttc
     5341 tccatacttt attattgcta ttttgtttag gctagaaaaa aaaaaactca taaaattgtc
     5401 ttcaaaccaa accaaaggaa atgaaaagaa aaaaaa
//
