LOCUS       NM_015972                693 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens RNA polymerase I and III subunit D (POLR1D),
            transcript variant 1, mRNA.
ACCESSION   NM_015972
VERSION     NM_015972.4
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 693)
  AUTHORS   Yuan,Z., Wang,Y., Yang,Y. and Qin,X.
  TITLE     POLR1D silencing suppresses lung cancer cells proliferation and
            migration via inhibition of PI3K-Akt pathway
  JOURNAL   J Cardiothorac Surg 19 (1), 322 (2024)
   PUBMED   38844975
  REMARK    GeneRIF: POLR1D silencing suppresses lung cancer cells
            proliferation and migration via inhibition of PI3K-Akt pathway.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 693)
  AUTHORS   Palumbo,R.J., Belkevich,A.E., Pascual,H.G. and Knutson,B.A.
  TITLE     A clinically-relevant residue of POLR1D is required for Drosophila
            development
  JOURNAL   Dev Dyn 251 (11), 1780-1797 (2022)
   PUBMED   35656583
  REMARK    GeneRIF: A clinically-relevant residue of POLR1D is required for
            Drosophila development.
REFERENCE   3  (bases 1 to 693)
  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   4  (bases 1 to 693)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   5  (bases 1 to 693)
  AUTHORS   Dauwerse,J.G., Dixon,J., Seland,S., Ruivenkamp,C.A., van
            Haeringen,A., Hoefsloot,L.H., Peters,D.J., Boers,A.C.,
            Daumer-Haas,C., Maiwald,R., Zweier,C., Kerr,B., Cobo,A.M.,
            Toral,J.F., Hoogeboom,A.J., Lohmann,D.R., Hehr,U., Dixon,M.J.,
            Breuning,M.H. and Wieczorek,D.
  TITLE     Mutations in genes encoding subunits of RNA polymerases I and III
            cause Treacher Collins syndrome
  JOURNAL   Nat Genet 43 (1), 20-22 (2011)
   PUBMED   21131976
  REMARK    GeneRIF: heterozygous mutations of POLR1D in 252 individuals with
            Treacher Collins syndrome
REFERENCE   6  (bases 1 to 693)
  AUTHORS   Hirschler-Laszkiewicz,I., Cavanaugh,A.H., Mirza,A., Lun,M., Hu,Q.,
            Smink,T. and Rothblum,L.I.
  TITLE     Rrn3 becomes inactivated in the process of ribosomal DNA
            transcription
  JOURNAL   J Biol Chem 278 (21), 18953-18959 (2003)
   PUBMED   12646563
REFERENCE   7  (bases 1 to 693)
  AUTHORS   Dundr,M., Hoffmann-Rohrer,U., Hu,Q., Grummt,I., Rothblum,L.I.,
            Phair,R.D. and Misteli,T.
  TITLE     A kinetic framework for a mammalian RNA polymerase in vivo
  JOURNAL   Science 298 (5598), 1623-1626 (2002)
   PUBMED   12446911
  REMARK    GeneRIF: analyzed the kinetics of assembly and elongation of the
            RNA polymerase I complex on endogenous ribosomal genes in the
            nuclei of living cells with the use of in vivo microscopy
REFERENCE   8  (bases 1 to 693)
  AUTHORS   Hu,P., Wu,S., Sun,Y., Yuan,C.C., Kobayashi,R., Myers,M.P. and
            Hernandez,N.
  TITLE     Characterization of human RNA polymerase III identifies orthologues
            for Saccharomyces cerevisiae RNA polymerase III subunits
  JOURNAL   Mol Cell Biol 22 (22), 8044-8055 (2002)
   PUBMED   12391170
REFERENCE   9  (bases 1 to 693)
  AUTHORS   Yao,Y., Yamamoto,K., Nishi,Y., Nogi,Y. and Muramatsu,M.
  TITLE     Mouse RNA polymerase I 16-kDa subunit able to associate with 40-kDa
            subunit is a homolog of yeast AC19 subunit of RNA polymerases I and
            III
  JOURNAL   J Biol Chem 271 (51), 32881-32885 (1996)
   PUBMED   8955128
  REMARK    GeneRIF: Characterization of the homologous mouse protein.
REFERENCE   10 (bases 1 to 693)
  AUTHORS   Barbosa,M., Jabs,E.W. and Huston,S.
  TITLE     Treacher Collins Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301704
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC000889.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_015972.3.
            
            Summary: The protein encoded by this gene is a component of the RNA
            polymerase I and RNA polymerase III complexes, which function in
            the synthesis of ribosomal RNA precursors and small RNAs,
            respectively. Mutations in this gene are a cause of Treacher
            Collins syndrome (TCS), a craniofacial development disorder.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Apr 2011].
            
            Transcript Variant: This variant (1) represents the shortest
            transcript but encodes the longest 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 :: AF077044.1, SRR1163655.684133.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000302979.5/ ENSP00000302478.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-693               BC000889.1         18-710
FEATURES             Location/Qualifiers
     source          1..693
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.2"
     gene            1..693
                     /gene="POLR1D"
                     /gene_synonym="AC19; POLR1C; RPA16; RPA9; RPAC2; RPC16;
                     RPO1-3; TCS2"
                     /note="RNA polymerase I and III subunit D"
                     /db_xref="GeneID:51082"
                     /db_xref="HGNC:HGNC:20422"
                     /db_xref="MIM:613715"
     exon            1..118
                     /gene="POLR1D"
                     /gene_synonym="AC19; POLR1C; RPA16; RPA9; RPAC2; RPC16;
                     RPO1-3; TCS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             93..494
                     /gene="POLR1D"
                     /gene_synonym="AC19; POLR1C; RPA16; RPA9; RPAC2; RPC16;
                     RPO1-3; TCS2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     DNA-directed RNA polymerases I and III subunit RPAC2; RNA
                     polymerase I subunit D; RNA polymerases I and III subunit
                     AC2; polymerase (RNA) I polypeptide D, 16kDa; DNA-directed
                     RNA polymerase I subunit D; polymerase (RNA) I subunit D;
                     Protein POLR1D"
                     /codon_start=1
                     /product="DNA-directed RNA polymerases I and III subunit
                     RPAC2 isoform 1"
                     /protein_id="NP_057056.1"
                     /db_xref="CCDS:CCDS9325.1"
                     /db_xref="GeneID:51082"
                     /db_xref="HGNC:HGNC:20422"
                     /db_xref="MIM:613715"
                     /translation="MEEDQELERKISGLKTSMAEGERKTALEMVQAAGTDRHCVTFVL
                     HEEDHTLGNSLRYMIMKNPEVEFCGYTTTHPSESKINLRIQTRGTLPAVEPFQRGLNE
                     LMNVCQHVLDKFEASIKDYKDQKASRNESTF"
     exon            119..693
                     /gene="POLR1D"
                     /gene_synonym="AC19; POLR1C; RPA16; RPA9; RPAC2; RPC16;
                     RPO1-3; TCS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      670..675
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POLR1D"
                     /gene_synonym="AC19; POLR1C; RPA16; RPA9; RPAC2; RPC16;
                     RPO1-3; TCS2"
                     /note="hexamer: AATAAA"
     polyA_site      693
                     /gene="POLR1D"
                     /gene_synonym="AC19; POLR1C; RPA16; RPA9; RPAC2; RPC16;
                     RPO1-3; TCS2"
                     /note="major polyA site"
ORIGIN      
        1 ccttgcttcc tgcttcgcct ccgcgcctcg cgctatggga cagagccccc gatccgccag
       61 caccacctga ggatccagaa accgccccag cgatggaaga ggatcaggag ctggagagaa
      121 aaatatctgg attgaagacc tcaatggctg aaggcgagag gaagacagcc ctggaaatgg
      181 tccaggcagc tggaacagat agacactgtg tgacatttgt attgcacgag gaagaccata
      241 ccctaggaaa ttctctacgt tacatgatca tgaagaaccc ggaagtggaa ttttgtggtt
      301 acactacgac ccatccttca gagagcaaaa ttaatttacg cattcagact cgaggtaccc
      361 ttccagctgt tgagccattt cagagaggcc tgaatgagct catgaatgtc tgccaacatg
      421 tgcttgacaa gtttgaggcc agcataaagg actataagga tcaaaaagca agcagaaatg
      481 aatccacatt ctagtccttt atgcagtata caaggagaac tgtcctgtag gatattctct
      541 tcctgatggt gcagaaccca gaattagaag tttgtggtta cagcatactc tgtccttcag
      601 aaaggcgtga ttctagctgt tgaccccttg cagctgttgg aatctctgca agaacctctg
      661 tattcttcta ataaattccc tcttttattt aaa
//
