LOCUS       NP_689896                560 aa            linear   PRI 24-SEP-2024
DEFINITION  DNA-directed primase/polymerase protein isoform 1 [Homo sapiens].
ACCESSION   NP_689896
VERSION     NP_689896.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 560)
  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  (residues 1 to 560)
  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  (residues 1 to 560)
  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  (residues 1 to 560)
  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  (residues 1 to 560)
  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  (residues 1 to 560)
  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  (residues 1 to 560)
  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  (residues 1 to 560)
  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  (residues 1 to 560)
  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 (residues 1 to 560)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..560
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.1"
     Protein         1..560
                     /product="DNA-directed primase/polymerase protein isoform
                     1"
                     /EC_number="2.7.7.7"
                     /EC_number="2.7.7.102"
                     /note="coiled-coil domain-containing protein 111;
                     DNA-directed primase/polymerase protein; hPrimpol1"
                     /calculated_mol_wt=64281
     Region          203..223
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96LW4.3)"
     Site            255
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96LW4.3)"
     Region          402..466
                     /region_name="Herpes_UL52"
                     /note="Herpesviridae UL52/UL70 DNA primase; pfam03121"
                     /db_xref="CDD:367342"
     Region          419..452
                     /region_name="Zinc knuckle motif.
                     /evidence=ECO:0000269|PubMed:24240614"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96LW4.3)"
     Region          480..558
                     /region_name="PrimPol_RBD"
                     /note="C-terminal RPA-binding domain (RBD) of DNA-directed
                     primase/polymerase protein and similar proteins; cd22256"
                     /db_xref="CDD:412077"
     Region          480..507
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96LW4.3)"
     Region          481..560
                     /region_name="Interaction with RPA1.
                     /evidence=ECO:0000269|PubMed:24126761"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96LW4.3)"
     Site            order(510..516,518..528)
                     /site_type="other"
                     /note="RBM-A motif"
                     /db_xref="CDD:412077"
     Region          513..527
                     /region_name="RPA1-binding motif 1.
                     /evidence=ECO:0000269|PubMed:28534480"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96LW4.3)"
     Region          548..556
                     /region_name="RPA1-binding motif 2.
                     /evidence=ECO:0000269|PubMed:28534480"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96LW4.3)"
     Site            order(548..551,553..556)
                     /site_type="other"
                     /note="RPA70N binding site [polypeptide binding]"
                     /db_xref="CDD:412077"
     CDS             1..560
                     /gene="PRIMPOL"
                     /gene_synonym="CCDC111; MYP22; Primpol1"
                     /coded_by="NM_152683.4:309..1991"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS3837.1"
                     /db_xref="GeneID:201973"
                     /db_xref="HGNC:HGNC:26575"
                     /db_xref="MIM:615421"
ORIGIN      
        1 mnrkweaklk qieerashye rkplssvyrp rlskpeepps iwrlfhrqaq afnfvkscke
       61 dvhvfaleck vgdgqriylv ttyaefwfyy ksrknllhcy evipenavck lyfdlefnkp
      121 anpgadgkkm vallieyvck alqelygvnc saedvlnlds stdekfsrhl ifqlhdvafk
      181 dnihvgnflr kilqpaldll gsedddsape ttghgfphfs eaparqgfsf nkmftekate
      241 eswtsnskkl erlgsaeqss pdlsflvvkn nmgekhlfvd lgvytrnrnf rlyksskigk
      301 rvalevtedn kffpiqskdv sdeyqyflss lvsnvrfsdt lriltcepsq nkqkgvgyfn
      361 sigtsvetie gfqcspypev dhfvlslvnk dgikggirrw nyffpeellv ydickyrwce
      421 nigrahksnn imilvdlkne vwyqkchdpv ckaenfksdc fplpaevcll flfkeeeeft
      481 tdeadetrsn etqnphkpsp srlstgasad avwdngidda yfleatedae laeaaensll
      541 synsevdeip deliievlqe
//
