LOCUS       NM_004451               2274 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens estrogen related receptor alpha (ESRRA), transcript
            variant 1, mRNA.
ACCESSION   NM_004451
VERSION     NM_004451.5
KEYWORDS    RefSeq; MANE Select.
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 2274)
  AUTHORS   Nanashima,N., Norikura,T., Nakano,M., Hata,C. and Horie,K.
  TITLE     Silencing of ERRalpha gene represses cell proliferation and induces
            apoptosis in human skin fibroblasts
  JOURNAL   Mol Med Rep 31 (1) (2025)
   PUBMED   39450559
  REMARK    GeneRIF: Silencing of ERRalpha gene represses cell proliferation
            and induces apoptosis in human skin fibroblasts.
REFERENCE   2  (bases 1 to 2274)
  AUTHORS   Sato,K., Takayama,K.I., Saito,Y. and Inoue,S.
  TITLE     ERRalpha and ERRgamma coordinate expression of genes associated
            with Alzheimer's disease, inhibiting DKK1 to suppress tau
            phosphorylation
  JOURNAL   Proc Natl Acad Sci U S A 121 (37), e2406854121 (2024)
   PUBMED   39231208
  REMARK    GeneRIF: ERRalpha and ERRgamma coordinate expression of genes
            associated with Alzheimer's disease, inhibiting DKK1 to suppress
            tau phosphorylation.
REFERENCE   3  (bases 1 to 2274)
  AUTHORS   Chen,W., Song,Y.S., Lee,H.S., Lin,C.W., Lee,J., Kang,Y.E.,
            Kim,S.K., Kim,S.Y., Park,Y.J. and Park,J.I.
  TITLE     Estrogen-related receptor alpha promotes thyroid tumor cell
            survival via a tumor subtype-specific regulation of target gene
            networks
  JOURNAL   Oncogene 43 (31), 2431-2446 (2024)
   PUBMED   38937602
  REMARK    GeneRIF: Estrogen-related receptor alpha promotes thyroid tumor
            cell survival via a tumor subtype-specific regulation of target
            gene networks.
REFERENCE   4  (bases 1 to 2274)
  AUTHORS   Somers,F.M. and Malek,G.
  TITLE     Estrogen related receptor alpha: Potential modulator of age-related
            macular degeneration
  JOURNAL   Curr Opin Pharmacol 75, 102439 (2024)
   PUBMED   38447458
  REMARK    GeneRIF: Estrogen related receptor alpha: Potential modulator of
            age-related macular degeneration.
            Review article
REFERENCE   5  (bases 1 to 2274)
  AUTHORS   Muduli,K., Pradhan,J., Prusty,M., Samal,A.P., Reddy,K.S. and
            Elangovan,S.
  TITLE     Estrogen-related receptor alpha (ERRalpha) promotes the migration,
            invasion and angiogenesis of breast cancer stem cell-like cells
  JOURNAL   Med Oncol 41 (3), 78 (2024)
   PUBMED   38393411
  REMARK    GeneRIF: Estrogen-related receptor alpha (ERRalpha) promotes the
            migration, invasion and angiogenesis of breast cancer stem
            cell-like cells.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2274)
  AUTHORS   Sladek,R., Bader,J.A. and Giguere,V.
  TITLE     The orphan nuclear receptor estrogen-related receptor alpha is a
            transcriptional regulator of the human medium-chain acyl coenzyme A
            dehydrogenase gene
  JOURNAL   Mol Cell Biol 17 (9), 5400-5409 (1997)
   PUBMED   9271417
REFERENCE   7  (bases 1 to 2274)
  AUTHORS   Johnston,S.D., Liu,X., Zuo,F., Eisenbraun,T.L., Wiley,S.R.,
            Kraus,R.J. and Mertz,J.E.
  TITLE     Estrogen-related receptor alpha 1 functionally binds as a monomer
            to extended half-site sequences including ones contained within
            estrogen-response elements
  JOURNAL   Mol Endocrinol 11 (3), 342-352 (1997)
   PUBMED   9058380
REFERENCE   8  (bases 1 to 2274)
  AUTHORS   Yang,N., Shigeta,H., Shi,H. and Teng,C.T.
  TITLE     Estrogen-related receptor, hERR1, modulates estrogen
            receptor-mediated response of human lactoferrin gene promoter
  JOURNAL   J Biol Chem 271 (10), 5795-5804 (1996)
   PUBMED   8621448
REFERENCE   9  (bases 1 to 2274)
  AUTHORS   Wiley,S.R., Kraus,R.J., Zuo,F., Murray,E.E., Loritz,K. and
            Mertz,J.E.
  TITLE     SV40 early-to-late switch involves titration of cellular
            transcriptional repressors
  JOURNAL   Genes Dev 7 (11), 2206-2219 (1993)
   PUBMED   8224847
REFERENCE   10 (bases 1 to 2274)
  AUTHORS   Giguere,V., Yang,N., Segui,P. and Evans,R.M.
  TITLE     Identification of a new class of steroid hormone receptors
  JOURNAL   Nature 331 (6151), 91-94 (1988)
   PUBMED   3267207
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001453.6, DB478332.1 and
            BC063795.1.
            
            On Nov 22, 2018 this sequence version replaced NM_004451.4.
            
            Summary: The protein encoded by this gene is a nuclear receptor
            that is most closely related to the estrogen receptor. This protein
            acts as a site-specific transcription factor and interacts with
            members of the PGC-1 family of transcription cofactors to regulate
            the expression of most genes involved in cellular energy production
            as well as in the process of mitochondrial biogenesis. A processed
            pseudogene of ESRRA is located on chromosome 13q12.1. [provided by
            RefSeq, Jun 2019].
            
            Transcript Variant: This variant (1) and variant 2 encode the same
            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 :: BC063795.1, SRR1163657.158414.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000000442.11/ ENSP00000000442.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 AP001453.6         77706-77709
            5-54                DB478332.1         2-51
            55-2274             BC063795.1         1-2220
FEATURES             Location/Qualifiers
     source          1..2274
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..2274
                     /gene="ESRRA"
                     /gene_synonym="ERR1; ERRa; ERRalpha; ESRL1; NR3B1"
                     /note="estrogen related receptor alpha"
                     /db_xref="GeneID:2101"
                     /db_xref="HGNC:HGNC:3471"
                     /db_xref="MIM:601998"
     exon            1..213
                     /gene="ESRRA"
                     /gene_synonym="ERR1; ERRa; ERRalpha; ESRL1; NR3B1"
                     /inference="alignment:Splign:2.1.0"
     exon            214..550
                     /gene="ESRRA"
                     /gene_synonym="ERR1; ERRa; ERRalpha; ESRL1; NR3B1"
                     /inference="alignment:Splign:2.1.0"
     CDS             226..1497
                     /gene="ESRRA"
                     /gene_synonym="ERR1; ERRa; ERRalpha; ESRL1; NR3B1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     estrogen receptor-like 1; steroid hormone receptor ERR1;
                     estrogen-related nuclear receptor alpha; ERR-alpha;
                     nuclear receptor subfamily 3 group B member 1"
                     /codon_start=1
                     /product="steroid hormone receptor ERR1 isoform 1"
                     /protein_id="NP_004442.3"
                     /db_xref="CCDS:CCDS41667.1"
                     /db_xref="GeneID:2101"
                     /db_xref="HGNC:HGNC:3471"
                     /db_xref="MIM:601998"
                     /translation="MSSQVVGIEPLYIKAEPASPDSPKGSSETETEPPVALAPGPAPT
                     RCLPGHKEEEDGEGAGPGEQGGGKLVLSSLPKRLCLVCGDVASGYHYGVASCEACKAF
                     FKRTIQGSIEYSCPASNECEITKRRRKACQACRFTKCLRVGMLKEGVRLDRVRGGRQK
                     YKRRPEVDPLPFPGPFPAGPLAVAGGPRKTAAPVNALVSHLLVVEPEKLYAMPDPAGP
                     DGHLPAVATLCDLFDREIVVTISWAKSIPGFSSLSLSDQMSVLQSVWMEVLVLGVAQR
                     SLPLQDELAFAEDLVLDEEGARAAGLGELGAALLQLVRRLQALRLEREEYVLLKALAL
                     ANSDSVHIEDAEAVEQLREALHEALLEYEAGRAGPGGGAERRRAGRLLLTLPLLRQTA
                     GKVLAHFYGVKLEGKVPMHKLFLEMLEAMMD"
     exon            551..667
                     /gene="ESRRA"
                     /gene_synonym="ERR1; ERRa; ERRalpha; ESRL1; NR3B1"
                     /inference="alignment:Splign:2.1.0"
     exon            668..796
                     /gene="ESRRA"
                     /gene_synonym="ERR1; ERRa; ERRalpha; ESRL1; NR3B1"
                     /inference="alignment:Splign:2.1.0"
     exon            797..967
                     /gene="ESRRA"
                     /gene_synonym="ERR1; ERRa; ERRalpha; ESRL1; NR3B1"
                     /inference="alignment:Splign:2.1.0"
     exon            968..1237
                     /gene="ESRRA"
                     /gene_synonym="ERR1; ERRa; ERRalpha; ESRL1; NR3B1"
                     /inference="alignment:Splign:2.1.0"
     exon            1238..2274
                     /gene="ESRRA"
                     /gene_synonym="ERR1; ERRa; ERRalpha; ESRL1; NR3B1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2251..2256
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ESRRA"
                     /gene_synonym="ERR1; ERRa; ERRalpha; ESRL1; NR3B1"
                     /note="hexamer: AATATA"
     polyA_site      2274
                     /gene="ESRRA"
                     /gene_synonym="ERR1; ERRa; ERRalpha; ESRL1; NR3B1"
                     /note="major polyA site"
ORIGIN      
        1 gtcagctgga ggaagcggag taggaagcgg ccgcgatgtc cttttgtgtc ctacaagcag
       61 ccggcggcgc cgccgagtga ggggacgcgg cgcggtgggg cggcgcggcc cgaggaggcg
      121 gcggaggagg ggccgcccgc ggcccccggc tcactccggc actccgggcc gctcggcccc
      181 catgcctgcc cgaccgcgct gccggagccc caggtgacca gcgccatgtc cagccaggtg
      241 gtgggcattg agcctctcta catcaaggca gagccggcca gccctgacag tccaaagggt
      301 tcctcggaga cagagaccga gcctcctgtg gccctggccc ctggtccagc tcccactcgc
      361 tgcctcccag gccacaagga agaggaggat ggggaggggg ctgggcctgg cgagcagggc
      421 ggtgggaagc tggtgctcag ctccctgccc aagcgcctct gcctggtctg tggggacgtg
      481 gcctccggct accactatgg tgtggcatcc tgtgaggcct gcaaagcctt cttcaagagg
      541 accatccagg ggagcatcga gtacagctgt ccggcctcca acgagtgtga gatcaccaag
      601 cggagacgca aggcctgcca ggcctgccgc ttcaccaagt gcctgcgggt gggcatgctc
      661 aaggagggag tgcgcctgga ccgcgtccgg ggtgggcggc agaagtacaa gcggcggccg
      721 gaggtggacc cactgccctt cccgggcccc ttccctgctg ggcccctggc agtcgctgga
      781 ggcccccgga agacagcagc cccagtgaat gcactggtgt ctcatctgct ggtggttgag
      841 cctgagaagc tctatgccat gcctgacccc gcaggccctg atgggcacct cccagccgtg
      901 gctaccctct gtgacctctt tgaccgagag attgtggtca ccatcagctg ggccaagagc
      961 atcccaggct tctcatcgct gtcgctgtct gaccagatgt cagtactgca gagcgtgtgg
     1021 atggaggtgc tggtgctggg tgtggcccag cgctcactgc cactgcagga tgagctggcc
     1081 ttcgctgagg acttagtcct ggatgaagag ggggcacggg cagctggcct gggggaactg
     1141 ggggctgccc tgctgcaact agtgcggcgg ctgcaggccc tgcggctgga gcgagaggag
     1201 tatgttctac taaaggcctt ggcccttgcc aattcagact ctgtgcacat cgaagatgcc
     1261 gaggctgtgg agcagctgcg agaagctctg cacgaggccc tgctggagta tgaagccggc
     1321 cgggctggcc ccggaggggg tgctgagcgg cggcgggcgg gcaggctgct gctcacgcta
     1381 ccgctcctcc gccagacagc gggcaaagtg ctggcccatt tctatggggt gaagctggag
     1441 ggcaaggtgc ccatgcacaa gctgttcttg gagatgctcg aggccatgat ggactgaggc
     1501 aaggggtggg actggtgggg gttctggcag gacctgccta gcatggggtc agccccaagg
     1561 gctggggcgg agctggggtc tgggcagtgc cacagcctgc tggcagggcc agggcaatgc
     1621 catcagcccc tgggaacagg ccccacgccc tctcctcccc ctcctagggg gtgtcagaag
     1681 ctgggaacgt gtgtccaggc tctgggcaca gtgctgcccc ttgcaagcca taacgtgccc
     1741 ccagagtgta gggggccttg cggaagccat agggggctgc acgggatgcg tgggaggcag
     1801 aaacctatct cagggaggga aggggatgga ggccagagtc tcccagtggg tgatgctttt
     1861 gctgctgctt aatcctaccc cctcttcaaa gcagagtggg acttggagag caaaggccca
     1921 tgcccccttc gctcctcctc tcatcatttg cattgggcat tagtgtcccc ccttgaagca
     1981 ataactccaa gcagactcca gcccctggac ccctggggtg gccagggctt ccccatcagc
     2041 tcccaacgag cctcctcagg gggtaggaga gcactgcctc tatgccctgc agagcaataa
     2101 cactatattt atttttgggt ttggccaggg aggcgcaggg acatggggca agccagggcc
     2161 cagagccctt ggctgtacag agactctatt ttaatgtata tttgctgcaa agagaaaccg
     2221 cttttggttt taaaccttta atgagaaaaa aatatataat accgagctca aaaa
//
