LOCUS       NM_001345892            2197 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens primase and DNA directed polymerase (PRIMPOL),
            transcript variant 5, mRNA.
ACCESSION   NM_001345892 XM_017007864
VERSION     NM_001345892.2
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 2197)
  AUTHORS   Boldinova,E.O., Baranovskiy,A.G., Esyunina,D., Tahirov,T.H. and
            Makarova,A.V.
  TITLE     DNA synthesis across DNA hairpins by human PrimPol
  JOURNAL   DNA Repair (Amst) 142, 103741 (2024)
   PUBMED   39153403
  REMARK    GeneRIF: DNA synthesis across DNA hairpins by human PrimPol.
REFERENCE   2  (bases 1 to 2197)
  AUTHORS   Boldinova,E.O., Baranovskiy,A.G., Filina,Y.V., Miftakhova,R.R.,
            Shamsutdinova,Y.F., Tahirov,T.H. and Makarova,A.V.
  TITLE     PrimPol Variant V102A with Altered Primase and Polymerase
            Activities
  JOURNAL   J Mol Biol 436 (9), 168542 (2024)
   PUBMED   38492718
  REMARK    GeneRIF: PrimPol Variant V102A with Altered Primase and Polymerase
            Activities.
REFERENCE   3  (bases 1 to 2197)
  AUTHORS   Velazquez-Ruiz,C., Blanco,L. and Martinez-Jimenez,M.I.
  TITLE     3'dNTP Binding Is Modulated during Primer Synthesis and Translesion
            by Human PrimPol
  JOURNAL   Int J Mol Sci 25 (1), 51 (2023)
   PUBMED   38203225
  REMARK    GeneRIF: 3'dNTP Binding Is Modulated during Primer Synthesis and
            Translesion by Human PrimPol.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2197)
  AUTHORS   Baranovskiy,A.G., Zhang,Y., Suwa,Y., Gu,J., Babayeva,N.D.,
            Pavlov,Y.I. and Tahirov,T.H.
  TITLE     Insight into the Human DNA Primase Interaction with Template-Primer
  JOURNAL   J Biol Chem 291 (9), 4793-4802 (2016)
   PUBMED   26710848
  REMARK    GeneRIF: Data suggest that, during genetic transcription,
            Prim-Pol-alpha-cat binds the DNA/RNA junction at 5prime-terminus of
            RNA primer (or initiating NTP, nucleoside-triphosphate).
REFERENCE   5  (bases 1 to 2197)
  AUTHORS   Schiavone,D., Jozwiakowski,S.K., Romanello,M., Guilbaud,G.,
            Guilliam,T.A., Bailey,L.J., Sale,J.E. and Doherty,A.J.
  TITLE     PrimPol Is Required for Replicative Tolerance of G Quadruplexes in
            Vertebrate Cells
  JOURNAL   Mol Cell 61 (1), 161-169 (2016)
   PUBMED   26626482
  REMARK    GeneRIF: Implicate PrimPol in promoting restart of DNA synthesis
            downstream of, but closely coupled to, G4 replication impediments.
REFERENCE   6  (bases 1 to 2197)
  AUTHORS   Mouron,S., Rodriguez-Acebes,S., Martinez-Jimenez,M.I.,
            Garcia-Gomez,S., Chocron,S., Blanco,L. and Mendez,J.
  TITLE     Repriming of DNA synthesis at stalled replication forks by human
            PrimPol
  JOURNAL   Nat Struct Mol Biol 20 (12), 1383-1389 (2013)
   PUBMED   24240614
REFERENCE   7  (bases 1 to 2197)
  AUTHORS   Wan,L., Lou,J., Xia,Y., Su,B., Liu,T., Cui,J., Sun,Y., Lou,H. and
            Huang,J.
  TITLE     hPrimpol1/CCDC111 is a human DNA primase-polymerase required for
            the maintenance of genome integrity
  JOURNAL   EMBO Rep 14 (12), 1104-1112 (2013)
   PUBMED   24126761
  REMARK    GeneRIF: PRIMPOL depletion results in increased spontaneous DNA
            damage and defects in the restart of stalled replication forks.
REFERENCE   8  (bases 1 to 2197)
  AUTHORS   Zhao,F., Wu,J., Xue,A., Su,Y., Wang,X., Lu,X., Zhou,Z., Qu,J. and
            Zhou,X.
  TITLE     Exome sequencing reveals CCDC111 mutation associated with high
            myopia
  JOURNAL   Hum Genet 132 (8), 913-921 (2013)
   PUBMED   23579484
  REMARK    GeneRIF: Identification of a novel missense variant of the CCDC111
            gene in a high myopia family.
REFERENCE   9  (bases 1 to 2197)
  AUTHORS   Hosgood,H.D. 3rd, Zhang,L., Shen,M., Berndt,S.I., Vermeulen,R.,
            Li,G., Yin,S., Yeager,M., Yuenger,J., Rothman,N., Chanock,S.,
            Smith,M. and Lan,Q.
  TITLE     Association between genetic variants in VEGF, ERCC3 and
            occupational benzene haematotoxicity
  JOURNAL   Occup Environ Med 66 (12), 848-853 (2009)
   PUBMED   19773279
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 2197)
  AUTHORS   Iyer,L.M., Koonin,E.V., Leipe,D.D. and Aravind,L.
  TITLE     Origin and evolution of the archaeo-eukaryotic primase superfamily
            and related palm-domain proteins: structural insights and new
            members
  JOURNAL   Nucleic Acids Res 33 (12), 3875-3896 (2005)
   PUBMED   16027112
  REMARK    Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079257.7 and KF459591.1.
            
            On May 31, 2019 this sequence version replaced NM_001345892.1.
            
            Summary: This gene encodes a DNA primase-polymerase that belongs to
            a superfamily of archaeao-eukaryotic primases. Members of this
            family have primase activity, catalyzing the synthesis of short RNA
            primers that serve as starting points for DNA synthesis, as well as
            DNA polymerase activity. The encoded protein facilitates DNA damage
            tolerance by mediating uninterrupted fork progression after UV
            irradiation and reinitiating DNA synthesis. An allelic variant in
            this gene is associated with myopia 22. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Sep
            2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR1803616.69502.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-171               AC079257.7         23534-23704
            172-249             AC079257.7         25819-25896
            250-485             AC079257.7         30881-31116
            486-583             AC079257.7         33136-33233
            584-713             AC079257.7         35570-35699
            714-861             KF459591.1         104-251
            862-1149            AC079257.7         45969-46256
            1150-1312           AC079257.7         52028-52190
            1313-1401           AC079257.7         56044-56132
            1402-1488           AC079257.7         59208-59294
            1489-1597           AC079257.7         59372-59480
            1598-1636           AC079257.7         65112-65150
            1637-1719           AC079257.7         65295-65377
            1720-1766           AC079257.7         65462-65508
            1767-2197           AC079257.7         68318-68748
FEATURES             Location/Qualifiers
     source          1..2197
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.1"
     gene            1..2197
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /note="primase and DNA directed polymerase"
                     /db_xref="GeneID:201973"
                     /db_xref="HGNC:HGNC:26575"
                     /db_xref="MIM:615421"
     exon            1..171
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     exon            172..249
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     exon            250..485
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     CDS             306..2024
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /EC_number="2.7.7.7"
                     /EC_number="2.7.7.102"
                     /note="isoform 5 is encoded by transcript variant 5;
                     coiled-coil domain-containing protein 111; DNA-directed
                     primase/polymerase protein; hPrimpol1"
                     /codon_start=1
                     /product="DNA-directed primase/polymerase protein isoform
                     5"
                     /protein_id="NP_001332821.1"
                     /db_xref="GeneID:201973"
                     /db_xref="HGNC:HGNC:26575"
                     /db_xref="MIM:615421"
                     /translation="MNRKWEAKLKQIEERASHYERKPLSSVYRPRLSKPEEPPSIWRL
                     FHRQAQAFNFVKSCKEDVHVFALECKVGDGQRIYLVTTYAEFWFYYKSRKNLLHCYEV
                     IPENAVCKLYFDLEFNKPANPGADGKKMVALLIEYVCKALQELYGVNCSAEDVLNLDS
                     STDEKFSRHLIFQLHDVAFKDNIHVGNFLRKILQPALDLLGSEDDDSAPETTGHGFPH
                     FSEAPARQGFSFNKMFTEKATEESWTSNSKKLERLGSAEQSSPDLSFLVVKNNMGEKH
                     LFVDLGVYTRNRNFRLYKSSKIGKRVALEVTEDNKFFPIQSKDVSDEYQYFLSSLVSN
                     VRFSDTLRILTCEPSQNKQKGVGYFNSIGTSETIEGFQCSPYPEVDHFVLSLVNKDGI
                     KGGIRRWNYFFPEELLVYDICKYRWCENIGRAHKSNNIISFCVIFGNHRFDWILVDLK
                     NEVWYQKCHDPVCKAENFKSDCFPLPAEVCLLFLFKEEEEFTTDEADETRSNETQNPH
                     KPSPSRLSTGASADAVWDNGIDDAYFLEATEDAELAEAAENSLLSYNSEVDEIPDELI
                     IEVLQE"
     exon            486..583
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     exon            584..713
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     exon            714..861
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     exon            862..1149
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     exon            1150..1312
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     exon            1313..1401
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     exon            1402..1488
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     exon            1489..1597
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     exon            1598..1636
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     exon            1637..1719
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     exon            1720..1766
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     exon            1767..2197
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2174..2179
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /note="hexamer: ATTAAA"
     polyA_site      2197
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /note="major polyA site"
ORIGIN      
        1 gtcttcctga gagtccgcgg gcttccgctc ccagcgcggg attctggagg gaaattgagg
       61 gagacttgga aaccgcgcca ggcccaacgg gtacctagaa gggagacaaa gccaggcctg
      121 ctgcccagtt tgagctctgg gaagaagagg agcaggccgg gacgcccacc gaggtatccc
      181 agaggtgaca gaacttgatc tgggcctgga aggggaagaa ttcgggaaaa gcaacgtggg
      241 gcattccagt aattgataga aatattacgt gggataggat ttattctctc cacacttctg
      301 aaccaatgaa tagaaaatgg gaagcaaaac tgaagcaaat tgaagaacga gcatctcatt
      361 atgagaggaa accgttgtcc tcagtgtata gaccaagatt gtccaagcca gaagaaccac
      421 cctccatctg gagactattt catcgacaag ctcaagcttt taattttgtt aaaagctgta
      481 aagaagacgt tcatgtattt gctttggaat gcaaagtagg agatggacaa cgtatttacc
      541 ttgtgacaac ctatgctgaa ttttggtttt actataaatc cagaaaaaat ctcttacact
      601 gctatgaagt tattcctgaa aatgctgtgt gcaagcttta ttttgatttg gaatttaaca
      661 aacctgccaa cccaggagct gatgggaaaa agatggttgc attactcatt gagtatgtgt
      721 gtaaagcact tcaagagtta tacggtgtta attgctcagc tgaagatgtt ttgaacttgg
      781 attctagcac tgatgaaaaa ttcagccggc atttaatatt tcagctccat gatgtggcat
      841 ttaaagataa tattcatgtt ggtaattttt tgagaaaaat tttgcagcct gctcttgact
      901 tgcttggcag tgaagatgat gatagcgctc cagagacaac aggccatgga tttccccatt
      961 tttcagaagc acctgcaaga caaggatttt ctttcaataa aatgttcaca gaaaaggcta
     1021 cagaggaaag ctggacatcg aattcaaaga aactggagag gctggggtca gctgagcaaa
     1081 gcagtcctga cctttcattt ctagttgtga agaataacat gggagagaag catctttttg
     1141 tagatctcgg agtttataca agaaatagaa actttcggct atataaatca tcaaaaattg
     1201 gaaagcgtgt ggctttggag gttactgaag ataacaaatt ttttcctata cagtcaaaag
     1261 atgtttctga cgaatatcaa tattttctct cttctttggt cagcaatgtc aggttctcag
     1321 atactttacg aattcttaca tgtgagccat ctcagaataa acaaaaagga gttggatatt
     1381 ttaacagtat cggcacttca gaaaccattg aaggttttca gtgttctccc tatcctgaag
     1441 ttgatcattt tgttctttct ttggtgaata aagatggcat taaaggagga attcggcgtt
     1501 ggaactactt tttcccagaa gaattactgg tttatgatat ttgtaaatat cggtggtgtg
     1561 aaaacattgg aagagcccat aagagtaata atataatttc attttgtgtg atttttggca
     1621 accaccgttt tgattggatt ctggttgatc tgaaaaatga agtttggtat caaaaatgtc
     1681 atgaccctgt atgtaaagca gaaaacttca aatctgactg tttcccatta cctgctgaag
     1741 tatgtctcct gtttcttttc aaagaggaag aagagtttac aacagatgaa gcagatgaaa
     1801 ctaggagcaa tgaaacccag aatcctcata aaccatcacc tagcaggctg tcaacaggtg
     1861 catctgctga tgctgtctgg gataatggca ttgatgatgc ttatttttta gaagctactg
     1921 aagatgctga attagctgaa gctgcagaga acagtcttct cagttataac agtgaagtgg
     1981 atgaaattcc tgatgaacta attatagaag tattacaaga gtaactaatt cactatgaac
     2041 acttttgtca ccaggctata atttgcctga tgtctgtgag atttgataaa tatatcattc
     2101 aacctgttta tataaactaa gttttattac tttgctttcc aatttttgtt ttttacttct
     2161 gtaaaccaat ttcattaaaa attagctttg gtgtaaa
//
