LOCUS       NM_203290               1275 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens RNA polymerase I and III subunit C (POLR1C),
            transcript variant 1, mRNA.
ACCESSION   NM_203290
VERSION     NM_203290.4
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 1275)
  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   2  (bases 1 to 1275)
  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   3  (bases 1 to 1275)
  AUTHORS   Hou,H., Li,Y., Wang,M., Liu,A., Yu,Z., Chen,K., Zhao,D. and Xu,Y.
  TITLE     Structural insights into RNA polymerase III-mediated transcription
            termination through trapping poly-deoxythymidine
  JOURNAL   Nat Commun 12 (1), 6135 (2021)
   PUBMED   34675218
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1275)
  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   5  (bases 1 to 1275)
  AUTHORS   Jansa,P., Mason,S.W., Hoffmann-Rohrer,U. and Grummt,I.
  TITLE     Cloning and functional characterization of PTRF, a novel protein
            which induces dissociation of paused ternary transcription
            complexes
  JOURNAL   EMBO J 17 (10), 2855-2864 (1998)
   PUBMED   9582279
REFERENCE   6  (bases 1 to 1275)
  AUTHORS   Dammann,R. and Pfeifer,G.P.
  TITLE     Cloning and characterization of the human RNA polymerase I subunit
            hRPA40
  JOURNAL   Biochim Biophys Acta 1396 (2), 153-157 (1998)
   PUBMED   9540830
REFERENCE   7  (bases 1 to 1275)
  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   8  (bases 1 to 1275)
  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
REFERENCE   9  (bases 1 to 1275)
  AUTHORS   Bernard,G. and Vanderver,A.
  TITLE     POLR3-Related Leukodystrophy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   22855961
REFERENCE   10 (bases 1 to 1275)
  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 DW415914.1 and BC008863.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_203290.3.
            
            Summary: The protein encoded by this gene is a subunit of both RNA
            polymerase I and RNA polymerase III complexes. The encoded protein
            is part of the Pol core element. Mutations in this gene have been
            associated with Treacher Collins syndrome (TCS) and hypomyelinating
            leukodystrophy 11. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (1) 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 :: BC008863.2, AF008442.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000642195.1/ ENSP00000496044.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 DW415914.1         85-93
            10-1275             BC008863.2         1-1266
FEATURES             Location/Qualifiers
     source          1..1275
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..1275
                     /gene="POLR1C"
                     /gene_synonym="AC40; HLD11; RPA39; RPA40; RPA5; RPAC1;
                     RPC40; TCS3"
                     /note="RNA polymerase I and III subunit C"
                     /db_xref="GeneID:9533"
                     /db_xref="HGNC:HGNC:20194"
                     /db_xref="MIM:610060"
     exon            1..90
                     /gene="POLR1C"
                     /gene_synonym="AC40; HLD11; RPA39; RPA40; RPA5; RPAC1;
                     RPC40; TCS3"
                     /inference="alignment:Splign:2.1.0"
     CDS             22..1062
                     /gene="POLR1C"
                     /gene_synonym="AC40; HLD11; RPA39; RPA40; RPA5; RPAC1;
                     RPC40; TCS3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     DNA-directed RNA polymerases I and III subunit RPAC1; RNA
                     polymerase I subunit C; RNA polymerases I and III subunit
                     AC1; DNA-directed RNA polymerase I subunit C; DNA-directed
                     RNA polymerases I and III 40 kDa polypeptide; polymerase
                     (RNA) I polypeptide C, 30kDa; polymerase (RNA) I subunit
                     C"
                     /codon_start=1
                     /product="DNA-directed RNA polymerases I and III subunit
                     RPAC1 isoform 1"
                     /protein_id="NP_976035.1"
                     /db_xref="CCDS:CCDS4901.1"
                     /db_xref="GeneID:9533"
                     /db_xref="HGNC:HGNC:20194"
                     /db_xref="MIM:610060"
                     /translation="MAASQAVEEMRSRVVLGEFGVRNVHTTDFPGNYSGYDDAWDQDR
                     FEKNFRVDVVHMDENSLEFDMVGIDAAIANAFRRILLAEVPTMAVEKVLVYNNTSIVQ
                     DEILAHRLGLIPIHADPRLFEYRNQGDEEGTEIDTLQFRLQVRCTRNPHAAKDSSDPN
                     ELYVNHKVYTRHMTWIPLGNQADLFPEGTIRPVHDDILIAQLRPGQEIDLLMHCVKGI
                     GKDHAKFSPVATASYRLLPDITLLEPVEGEAAEELSRCFSPGVIEVQEVQGKKVARVA
                     NPRLDTFSREIFRNEKLKKVVRLARVRDHYIFSVESTGVLPPDVLVSEAIKVLMGKCR
                     RFLDELDAVQMD"
     exon            91..162
                     /gene="POLR1C"
                     /gene_synonym="AC40; HLD11; RPA39; RPA40; RPA5; RPAC1;
                     RPC40; TCS3"
                     /inference="alignment:Splign:2.1.0"
     exon            163..270
                     /gene="POLR1C"
                     /gene_synonym="AC40; HLD11; RPA39; RPA40; RPA5; RPAC1;
                     RPC40; TCS3"
                     /inference="alignment:Splign:2.1.0"
     exon            271..403
                     /gene="POLR1C"
                     /gene_synonym="AC40; HLD11; RPA39; RPA40; RPA5; RPAC1;
                     RPC40; TCS3"
                     /inference="alignment:Splign:2.1.0"
     exon            404..523
                     /gene="POLR1C"
                     /gene_synonym="AC40; HLD11; RPA39; RPA40; RPA5; RPAC1;
                     RPC40; TCS3"
                     /inference="alignment:Splign:2.1.0"
     exon            524..676
                     /gene="POLR1C"
                     /gene_synonym="AC40; HLD11; RPA39; RPA40; RPA5; RPAC1;
                     RPC40; TCS3"
                     /inference="alignment:Splign:2.1.0"
     exon            677..826
                     /gene="POLR1C"
                     /gene_synonym="AC40; HLD11; RPA39; RPA40; RPA5; RPAC1;
                     RPC40; TCS3"
                     /inference="alignment:Splign:2.1.0"
     exon            827..943
                     /gene="POLR1C"
                     /gene_synonym="AC40; HLD11; RPA39; RPA40; RPA5; RPAC1;
                     RPC40; TCS3"
                     /inference="alignment:Splign:2.1.0"
     exon            944..1275
                     /gene="POLR1C"
                     /gene_synonym="AC40; HLD11; RPA39; RPA40; RPA5; RPAC1;
                     RPC40; TCS3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1252..1257
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POLR1C"
                     /gene_synonym="AC40; HLD11; RPA39; RPA40; RPA5; RPAC1;
                     RPC40; TCS3"
                     /note="hexamer: AATAAA"
     polyA_site      1275
                     /gene="POLR1C"
                     /gene_synonym="AC40; HLD11; RPA39; RPA40; RPA5; RPAC1;
                     RPC40; TCS3"
                     /note="major polyA site"
ORIGIN      
        1 agtctcgtgg agagattgaa gatggcggct tctcaggcgg tggaggaaat gcggagccgc
       61 gtggttctgg gggagtttgg ggttcgcaat gtccatacta ctgactttcc cggtaactat
      121 tccggttatg atgatgcctg ggaccaggac cgcttcgaga agaatttccg tgtggatgta
      181 gtacacatgg atgaaaactc actggagttt gacatggtgg gaattgacgc agccattgcc
      241 aatgcttttc gacgaattct gctagctgag gtgccaacta tggctgtgga gaaggtcctg
      301 gtgtacaata atacatccat tgttcaggat gagattcttg ctcaccgtct ggggctcatt
      361 cccattcatg ctgatccccg tctttttgag tatcggaacc aaggagatga agaaggcaca
      421 gagatagata ctctacagtt tcgtctccag gtcagatgca ctcggaaccc ccatgctgct
      481 aaagattcct ctgaccccaa cgaactgtac gtgaaccaca aagtgtatac caggcatatg
      541 acatggatcc ccctggggaa ccaggctgat ctctttccag agggcactat ccgaccagtg
      601 catgatgata tcctcatcgc tcagctgcgg cctggccaag aaattgacct gctcatgcac
      661 tgtgtcaagg gcattggcaa agatcatgcc aagttttcac cagtggcaac agccagttac
      721 aggctcctgc cagacatcac cctgcttgag cccgtggaag gggaggcagc tgaggagttg
      781 agcaggtgct tctcacctgg tgttattgag gtgcaggaag tccaaggtaa aaaggtggcc
      841 agagttgcca acccccggct ggataccttc agcagagaaa tcttccggaa tgagaagcta
      901 aagaaggttg tgaggcttgc ccgggttcga gatcattata tcttctctgt tgagtcaacg
      961 ggggtgttgc caccagatgt gctggtgagt gaagccatca aagtactgat ggggaagtgc
     1021 cggcgcttct tggatgaact agatgcggtt cagatggact gagcttggat gcttctgagg
     1081 caagctgaag ctttgggttc tgactgaccc accctacagg actgctgaac agagagccca
     1141 gtgtgactag ggatcctgag ttttctggga caattccagc tttaatcaat acattttgtt
     1201 aaatgtgcca taaaatgaga ctttttacgc ctttataagg ccttagatgt aaataaactc
     1261 acccaaacaa aaaaa
//
