LOCUS       NM_022490               1855 bp    mRNA    linear   PRI 06-DEC-2024
DEFINITION  Homo sapiens RNA polymerase I subunit E (POLR1E), transcript
            variant 1, mRNA.
ACCESSION   NM_022490 XR_108944 XR_113215 XR_114260
VERSION     NM_022490.4
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 1855)
  AUTHORS   McNamar,R., Freeman,E., Baylor,K.N., Fakhouri,A.M., Huang,S.,
            Knutson,B.A. and Rothblum,L.I.
  TITLE     PAF49: An RNA Polymerase I subunit essential for rDNA transcription
            and stabilization of PAF53
  JOURNAL   J Biol Chem 299 (8), 104951 (2023)
   PUBMED   37356716
  REMARK    GeneRIF: PAF49: An RNA Polymerase I subunit essential for rDNA
            transcription and stabilization of PAF53.
REFERENCE   2  (bases 1 to 1855)
  AUTHORS   Daiss,J.L., Pilsl,M., Straub,K., Bleckmann,A., Hocherl,M.,
            Heiss,F.B., Abascal-Palacios,G., Ramsay,E.P., Tluckova,K.,
            Mars,J.C., Furtges,T., Bruckmann,A., Rudack,T., Bernecky,C.,
            Lamour,V., Panov,K., Vannini,A., Moss,T. and Engel,C.
  TITLE     The human RNA polymerase I structure reveals an HMG-like docking
            domain specific to metazoans
  JOURNAL   Life Sci Alliance 5 (11), e202201568 (2022)
   PUBMED   36271492
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1855)
  AUTHORS   Zhao,D., Liu,W., Chen,K., Wu,Z., Yang,H. and Xu,Y.
  TITLE     Structure of the human RNA polymerase I elongation complex
  JOURNAL   Cell Discov 7 (1), 97 (2021)
   PUBMED   34671025
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1855)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 1855)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 1855)
  AUTHORS   Bjerregaard,B., Wrenzycki,C., Strejcek,F., Laurincik,J., Holm,P.,
            Ochs,R.L., Rosenkranz,C., Callesen,H., Rath,D., Niemann,H. and
            Maddox-Hyttel,P.
  TITLE     Expression of nucleolar-related proteins in porcine preimplantation
            embryos produced in vivo and in vitro
  JOURNAL   Biol Reprod 70 (4), 867-876 (2004)
   PUBMED   14585813
REFERENCE   7  (bases 1 to 1855)
  AUTHORS   Scherl,A., Coute,Y., Deon,C., Calle,A., Kindbeiter,K.,
            Sanchez,J.C., Greco,A., Hochstrasser,D. and Diaz,J.J.
  TITLE     Functional proteomic analysis of human nucleolus
  JOURNAL   Mol Biol Cell 13 (11), 4100-4109 (2002)
   PUBMED   12429849
REFERENCE   8  (bases 1 to 1855)
  AUTHORS   Voit,R. and Grummt,I.
  TITLE     Phosphorylation of UBF at serine 388 is required for interaction
            with RNA polymerase I and activation of rDNA transcription
  JOURNAL   Proc Natl Acad Sci U S A 98 (24), 13631-13636 (2001)
   PUBMED   11698641
REFERENCE   9  (bases 1 to 1855)
  AUTHORS   Seither,P., Zatsepina,O., Hoffmann,M. and Grummt,I.
  TITLE     Constitutive and strong association of PAF53 with RNA polymerase I
  JOURNAL   Chromosoma 106 (4), 216-225 (1997)
   PUBMED   9254723
REFERENCE   10 (bases 1 to 1855)
  AUTHORS   Hanada,K., Song,C.Z., Yamamoto,K., Yano,K., Maeda,Y., Yamaguchi,K.
            and Muramatsu,M.
  TITLE     RNA polymerase I associated factor 53 binds to the nucleolar
            transcription factor UBF and functions in specific rDNA
            transcription
  JOURNAL   EMBO J 15 (9), 2217-2226 (1996)
   PUBMED   8641287
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL158156.7.
            
            On Aug 31, 2019 this sequence version replaced NM_022490.3.
            
            Transcript Variant: This variant (1) encodes the longer 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 :: AK023452.1, BC001337.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377798.9/ ENSP00000367029.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-176               AL158156.7         21970-22145
            177-280             AL158156.7         22725-22828
            281-357             AL158156.7         23885-23961
            358-443             AL158156.7         25337-25422
            444-502             AL158156.7         28679-28737
            503-647             AL158156.7         29581-29725
            648-755             AL158156.7         31191-31298
            756-852             AL158156.7         31912-32008
            853-986             AL158156.7         34113-34246
            987-1068            AL158156.7         36862-36943
            1069-1200           AL158156.7         37735-37866
            1201-1855           AL158156.7         39065-39719
FEATURES             Location/Qualifiers
     source          1..1855
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.2"
     gene            1..1855
                     /gene="POLR1E"
                     /gene_synonym="A49; PAF53; PRAF1; RPA49"
                     /note="RNA polymerase I subunit E"
                     /db_xref="GeneID:64425"
                     /db_xref="HGNC:HGNC:17631"
                     /db_xref="MIM:621031"
     exon            1..176
                     /gene="POLR1E"
                     /gene_synonym="A49; PAF53; PRAF1; RPA49"
                     /inference="alignment:Splign:2.1.0"
     CDS             101..1360
                     /gene="POLR1E"
                     /gene_synonym="A49; PAF53; PRAF1; RPA49"
                     /note="isoform 1 is encoded by transcript variant 1;
                     polymerase (RNA) I associated factor 1; polymerase (RNA) I
                     subunit E; DNA-directed RNA polymerase I subunit RPA49;
                     RNA polymerase I subunit A49; RNA polymerase I-associated
                     factor 53; DNA-directed RNA polymerase I subunit E;
                     polymerase (RNA) I polypeptide E, 53kDa"
                     /codon_start=1
                     /product="DNA-directed RNA polymerase I subunit RPA49
                     isoform 1"
                     /protein_id="NP_071935.1"
                     /db_xref="CCDS:CCDS6611.1"
                     /db_xref="GeneID:64425"
                     /db_xref="HGNC:HGNC:17631"
                     /db_xref="MIM:621031"
                     /translation="MAAEVLPSARWQYCGAPDGSQRAVLVQFSNGKLQSPGNMRFTLY
                     ENKDSTNPRKRNQRILAAETDRLSYVGNNFGTGALKCNTLCRHFVGILNKTSGQMEVY
                     DAELFNMQPLFSDVSVESELALESQTKTYREKMDSCIEAFGTTKQKRALNTRRMNRVG
                     NESLNRAVAKAAETIIDTKGVTALVSDAIHNDLQDDSLYLPPCYDDAAKPEDVYKFED
                     LLSPAEYEALQSPSEAFRNVTSEEILKMIEENSHCTFVIEALKSLPSDVESRDRQARC
                     IWFLDTLIKFRAHRVVKRKSALGPGVPHIINTKLLKHFTCLTYNNGRLRNLISDSMKA
                     KITAYVIILALHIHDFQIDLTVLQRDLKLSEKRMMEIAKAMRLKISKRRVSVAAGSEE
                     DHKLGTLSLPLPPAQTSDRLAKRRKIT"
     exon            177..280
                     /gene="POLR1E"
                     /gene_synonym="A49; PAF53; PRAF1; RPA49"
                     /inference="alignment:Splign:2.1.0"
     exon            281..357
                     /gene="POLR1E"
                     /gene_synonym="A49; PAF53; PRAF1; RPA49"
                     /inference="alignment:Splign:2.1.0"
     exon            358..443
                     /gene="POLR1E"
                     /gene_synonym="A49; PAF53; PRAF1; RPA49"
                     /inference="alignment:Splign:2.1.0"
     exon            444..502
                     /gene="POLR1E"
                     /gene_synonym="A49; PAF53; PRAF1; RPA49"
                     /inference="alignment:Splign:2.1.0"
     exon            503..647
                     /gene="POLR1E"
                     /gene_synonym="A49; PAF53; PRAF1; RPA49"
                     /inference="alignment:Splign:2.1.0"
     exon            648..755
                     /gene="POLR1E"
                     /gene_synonym="A49; PAF53; PRAF1; RPA49"
                     /inference="alignment:Splign:2.1.0"
     exon            756..852
                     /gene="POLR1E"
                     /gene_synonym="A49; PAF53; PRAF1; RPA49"
                     /inference="alignment:Splign:2.1.0"
     exon            853..986
                     /gene="POLR1E"
                     /gene_synonym="A49; PAF53; PRAF1; RPA49"
                     /inference="alignment:Splign:2.1.0"
     exon            987..1068
                     /gene="POLR1E"
                     /gene_synonym="A49; PAF53; PRAF1; RPA49"
                     /inference="alignment:Splign:2.1.0"
     exon            1069..1200
                     /gene="POLR1E"
                     /gene_synonym="A49; PAF53; PRAF1; RPA49"
                     /inference="alignment:Splign:2.1.0"
     exon            1201..1855
                     /gene="POLR1E"
                     /gene_synonym="A49; PAF53; PRAF1; RPA49"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1828..1833
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POLR1E"
                     /gene_synonym="A49; PAF53; PRAF1; RPA49"
                     /note="hexamer: TATAAA"
     polyA_site      1855
                     /gene="POLR1E"
                     /gene_synonym="A49; PAF53; PRAF1; RPA49"
                     /note="major polyA site"
ORIGIN      
        1 cttttccggc ccgcagcgcg gcctgggctc ccgcgtgttt aaaagtgcgc ttgtggctgc
       61 tgctgtctta actcctgtgc ttggcggaca gacaggcgag atggcggcgg aggtgttgcc
      121 gagtgcgagg tggcagtatt gtggggcgcc cgacgggagc cagagagctg tactggtcca
      181 gttctccaac gggaagctac agagtccagg caacatgcgc tttaccttgt atgagaacaa
      241 agattccacc aaccccagga agaggaatca acggatcctg gcagctgaaa cagataggct
      301 ctcctatgtg ggaaacaatt ttgggactgg agccctcaaa tgcaacactt tgtgcaggca
      361 ctttgtggga attttgaaca agacctctgg ccaaatggaa gtatatgatg ctgaattgtt
      421 caacatgcag ccactatttt cagatgtatc agttgagagt gaactggcgc tagagagtca
      481 gaccaaaact tacagagaaa agatggattc ttgtattgaa gcctttggta ccaccaaaca
      541 gaagcgagct ctgaacacca ggagaatgaa cagagttggc aatgaatctt tgaatcgtgc
      601 agtggctaaa gctgcagaga ctatcattga tacgaagggt gtgactgctc tggtcagcga
      661 tgctatccac aatgacttgc aagatgactc cctctacctt cctccctgct atgatgatgc
      721 agccaagcct gaagacgtgt ataaatttga agatcttctt tcccctgcgg agtatgaagc
      781 tcttcagagc ccatctgaag ctttcaggaa cgtcacgtca gaagaaatac tgaagatgat
      841 tgaggagaac agccattgca cctttgtcat agaagcgttg aagtctttgc catcagatgt
      901 ggagagccga gaccgccagg cccgatgcat atggtttctg gataccctca tcaaatttcg
      961 agctcatagg gtagttaagc ggaaaagtgc tctgggacct ggagttcccc acatcatcaa
     1021 caccaaactg ctgaagcact ttacttgctt gacctacaac aatggcagat tacggaactt
     1081 aatttcggat tctatgaagg cgaagattac tgcatatgtg atcatacttg ccttgcacat
     1141 acatgacttc caaattgacc tgacagtgtt acagagggac ttgaagctca gtgagaaaag
     1201 gatgatggag atagccaaag ccatgaggct gaagatctcc aaaagaaggg tgtctgtggc
     1261 cgccggcagt gaagaagatc acaagctggg caccctgtcc ctcccgctgc ctccagccca
     1321 gacctcagac cgcctggcaa agcggaggaa gattacctag acgcatgctt tccagacagg
     1381 gcgttttggc tgcatcacag ccactggctg gtcctattca tttccatttt tatgtatgtt
     1441 ttgaaaagaa aaggtccggg gatggtggct cacacctgaa atcccagcac tttgggaggc
     1501 cgaggcagga agatcattga gctcaggagt ttgaaaccag tctggacaac atagggagac
     1561 cccatctcta ccggaggaaa aaaaaaagag tcaggcctgg tggtgtgcgc ctgtaatccc
     1621 agctactcgg gaggctgagg caggacgatt acttgagctt gggaaatcaa ggttgcagtg
     1681 agctatgatt gtgtggccac actccatcct gggtcacaga gtgagacctt gtctcaaaaa
     1741 agtaacataa ggaaaaaaga agccttgctt tagcacaggt atgaagccag aagccagcat
     1801 ctcaactgtg cttgtcttat gcagaaatat aaagcgatgg ccaggttgga cttca
//
