LOCUS       NM_152683               2164 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens primase and DNA directed polymerase (PRIMPOL),
            transcript variant 1, mRNA.
ACCESSION   NM_152683
VERSION     NM_152683.4
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 2164)
  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 2164)
  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 2164)
  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 2164)
  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 2164)
  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 2164)
  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 2164)
  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 2164)
  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 2164)
  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 2164)
  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 BP245596.1 and BC064600.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_152683.3.
            
            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].
            
            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 :: BC064600.1, SRR1803615.31776.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000314970.11/ ENSP00000313816.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-34                BP245596.1         126-159
            35-2164             BC064600.1         1-2130
FEATURES             Location/Qualifiers
     source          1..2164
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.1"
     gene            1..2164
                     /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..488
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     CDS             309..1991
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /EC_number="2.7.7.7"
                     /EC_number="2.7.7.102"
                     /note="isoform 1 is encoded by transcript variant 1;
                     coiled-coil domain-containing protein 111; DNA-directed
                     primase/polymerase protein; hPrimpol1"
                     /codon_start=1
                     /product="DNA-directed primase/polymerase protein isoform
                     1"
                     /protein_id="NP_689896.1"
                     /db_xref="CCDS:CCDS3837.1"
                     /db_xref="GeneID:201973"
                     /db_xref="HGNC:HGNC:26575"
                     /db_xref="MIM:615421"
                     /translation="MNRKWEAKLKQIEERASHYERKPLSSVYRPRLSKPEEPPSIWRL
                     FHRQAQAFNFVKSCKEDVHVFALECKVGDGQRIYLVTTYAEFWFYYKSRKNLLHCYEV
                     IPENAVCKLYFDLEFNKPANPGADGKKMVALLIEYVCKALQELYGVNCSAEDVLNLDS
                     STDEKFSRHLIFQLHDVAFKDNIHVGNFLRKILQPALDLLGSEDDDSAPETTGHGFPH
                     FSEAPARQGFSFNKMFTEKATEESWTSNSKKLERLGSAEQSSPDLSFLVVKNNMGEKH
                     LFVDLGVYTRNRNFRLYKSSKIGKRVALEVTEDNKFFPIQSKDVSDEYQYFLSSLVSN
                     VRFSDTLRILTCEPSQNKQKGVGYFNSIGTSVETIEGFQCSPYPEVDHFVLSLVNKDG
                     IKGGIRRWNYFFPEELLVYDICKYRWCENIGRAHKSNNIMILVDLKNEVWYQKCHDPV
                     CKAENFKSDCFPLPAEVCLLFLFKEEEEFTTDEADETRSNETQNPHKPSPSRLSTGAS
                     ADAVWDNGIDDAYFLEATEDAELAEAAENSLLSYNSEVDEIPDELIIEVLQE"
     exon            489..586
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     exon            587..716
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     exon            717..864
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     exon            865..1152
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     exon            1153..1315
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     exon            1316..1404
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     exon            1405..1494
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     exon            1495..1603
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     exon            1604..1686
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     exon            1687..1733
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     exon            1734..2164
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2141..2146
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /note="hexamer: ATTAAA"
     polyA_site      2164
                     /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 agtaattgat agaaatatta cgtgggatag gatttattct ctccacactt
      301 ctgaaccaat gaatagaaaa tgggaagcaa aactgaagca aattgaagaa cgagcatctc
      361 attatgagag gaaaccgttg tcctcagtgt atagaccaag attgtccaag ccagaagaac
      421 caccctccat ctggagacta tttcatcgac aagctcaagc ttttaatttt gttaaaagct
      481 gtaaagaaga cgttcatgta tttgctttgg aatgcaaagt aggagatgga caacgtattt
      541 accttgtgac aacctatgct gaattttggt tttactataa atccagaaaa aatctcttac
      601 actgctatga agttattcct gaaaatgctg tgtgcaagct ttattttgat ttggaattta
      661 acaaacctgc caacccagga gctgatggga aaaagatggt tgcattactc attgagtatg
      721 tgtgtaaagc acttcaagag ttatacggtg ttaattgctc agctgaagat gttttgaact
      781 tggattctag cactgatgaa aaattcagcc ggcatttaat atttcagctc catgatgtgg
      841 catttaaaga taatattcat gttggtaatt ttttgagaaa aattttgcag cctgctcttg
      901 acttgcttgg cagtgaagat gatgatagcg ctccagagac aacaggccat ggatttcccc
      961 atttttcaga agcacctgca agacaaggat tttctttcaa taaaatgttc acagaaaagg
     1021 ctacagagga aagctggaca tcgaattcaa agaaactgga gaggctgggg tcagctgagc
     1081 aaagcagtcc tgacctttca tttctagttg tgaagaataa catgggagag aagcatcttt
     1141 ttgtagatct cggagtttat acaagaaata gaaactttcg gctatataaa tcatcaaaaa
     1201 ttggaaagcg tgtggctttg gaggttactg aagataacaa attttttcct atacagtcaa
     1261 aagatgtttc tgacgaatat caatattttc tctcttcttt ggtcagcaat gtcaggttct
     1321 cagatacttt acgaattctt acatgtgagc catctcagaa taaacaaaaa ggagttggat
     1381 attttaacag tatcggcact tcagtagaaa ccattgaagg ttttcagtgt tctccctatc
     1441 ctgaagttga tcattttgtt ctttctttgg tgaataaaga tggcattaaa ggaggaattc
     1501 ggcgttggaa ctactttttc ccagaagaat tactggttta tgatatttgt aaatatcggt
     1561 ggtgtgaaaa cattggaaga gcccataaga gtaataatat aatgattctg gttgatctga
     1621 aaaatgaagt ttggtatcaa aaatgtcatg accctgtatg taaagcagaa aacttcaaat
     1681 ctgactgttt cccattacct gctgaagtat gtctcctgtt tcttttcaaa gaggaagaag
     1741 agtttacaac agatgaagca gatgaaacta ggagcaatga aacccagaat cctcataaac
     1801 catcacctag caggctgtca acaggtgcat ctgctgatgc tgtctgggat aatggcattg
     1861 atgatgctta ttttttagaa gctactgaag atgctgaatt agctgaagct gcagagaaca
     1921 gtcttctcag ttataacagt gaagtggatg aaattcctga tgaactaatt atagaagtat
     1981 tacaagagta actaattcac tatgaacact tttgtcacca ggctataatt tgcctgatgt
     2041 ctgtgagatt tgataaatat atcattcaac ctgtttatat aaactaagtt ttattacttt
     2101 gctttccaat ttttgttttt tacttctgta aaccaatttc attaaaaatt agctttggtg
     2161 taaa
//
