LOCUS       NM_181808               3253 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens DNA polymerase nu (POLN), mRNA.
ACCESSION   NM_181808
VERSION     NM_181808.4
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 3253)
  AUTHORS   Xiao,R.W., Wang,F., Wang,T.M., Zhang,J.B., Wu,Z.Y., Deng,C.M.,
            Liao,Y., Zhou,T., Yang,D.W., Dong,S.Q., Xue,W.Q., He,Y.Q.,
            Zheng,X.H., Li,X.Z., Zhang,P.F., Zhang,S.D., Hu,Y.Z., Liu,Y.Y.,
            Xia,Y.F., Gao,S., Mu,J.B., Feng,L. and Jia,W.H.
  TITLE     Rare POLN mutations confer risk for familial nasopharyngeal
            carcinoma through weakened Epstein-Barr virus lytic replication
  JOURNAL   EBioMedicine 84, 104267 (2022)
   PUBMED   36116213
  REMARK    GeneRIF: Rare POLN mutations confer risk for familial
            nasopharyngeal carcinoma through weakened Epstein-Barr virus lytic
            replication.
REFERENCE   2  (bases 1 to 3253)
  AUTHORS   Liu,Y., Zhu,X., Wang,Z., Dai,X. and You,C.
  TITLE     Next-Generation Sequencing-Based Analysis of the Roles of DNA
            Polymerases nu and theta; in the Replicative Bypass of
            8-Oxo-7,8-dihydroguanine in Human Cells
  JOURNAL   ACS Chem Biol 17 (8), 2315-2319 (2022)
   PUBMED   35815634
  REMARK    GeneRIF: Next-Generation Sequencing-Based Analysis of the Roles of
            DNA Polymerases nu and theta in the Replicative Bypass of
            8-Oxo-7,8-dihydroguanine in Human Cells.
REFERENCE   3  (bases 1 to 3253)
  AUTHORS   Ghodke,P.P. and Guengerich,F.P.
  TITLE     DNA polymerases eta and kappa bypass N2-guanine-O6-alkylguanine DNA
            alkyltransferase cross-linked DNA-peptides
  JOURNAL   J Biol Chem 297 (4), 101124 (2021)
   PUBMED   34461101
  REMARK    GeneRIF: DNA polymerases eta and kappa bypass
            N(2)-guanine-O(6)-alkylguanine DNA alkyltransferase cross-linked
            DNA-peptides.
REFERENCE   4  (bases 1 to 3253)
  AUTHORS   Gregory,M.T., Gao,Y., Cui,Q. and Yang,W.
  TITLE     Multiple deprotonation paths of the nucleophile 3'-OH in the DNA
            synthesis reaction
  JOURNAL   Proc Natl Acad Sci U S A 118 (23) (2021)
   PUBMED   34088846
  REMARK    GeneRIF: Multiple deprotonation paths of the nucleophile 3'-OH in
            the DNA synthesis reaction.
REFERENCE   5  (bases 1 to 3253)
  AUTHORS   Jung,H., Rayala,N.K. and Lee,S.
  TITLE     Translesion synthesis of the major nitrogen mustard-induced DNA
            lesion by human DNA polymerase eta
  JOURNAL   Biochem J 477 (23), 4543-4558 (2020)
   PUBMED   33175093
  REMARK    GeneRIF: Translesion synthesis of the major nitrogen
            mustard-induced DNA lesion by human DNA polymerase eta.
REFERENCE   6  (bases 1 to 3253)
  AUTHORS   Yamanaka,K., Minko,I.G., Takata,K., Kolbanovskiy,A., Kozekov,I.D.,
            Wood,R.D., Rizzo,C.J. and Lloyd,R.S.
  TITLE     Novel enzymatic function of DNA polymerase nu in translesion DNA
            synthesis past major groove DNA-peptide and DNA-DNA cross-links
  JOURNAL   Chem Res Toxicol 23 (3), 689-695 (2010)
   PUBMED   20102227
  REMARK    GeneRIF: Described is a novel translesion DNA synthesis substrate
            specificity of pol nu, demonstrating that it is able to bypass
            exceptionally large DNA lesions whose linkages are through the DNA
            major groove.
REFERENCE   7  (bases 1 to 3253)
  AUTHORS   Moldovan,G.L., Madhavan,M.V., Mirchandani,K.D., McCaffrey,R.M.,
            Vinciguerra,P. and D'Andrea,A.D.
  TITLE     DNA polymerase POLN participates in cross-link repair and
            homologous recombination
  JOURNAL   Mol Cell Biol 30 (4), 1088-1096 (2010)
   PUBMED   19995904
  REMARK    GeneRIF: The recently discovered polymerase POLN identified here is
            involved in repair of DNA cross-links.
REFERENCE   8  (bases 1 to 3253)
  AUTHORS   Zietlow,L., Smith,L.A., Bessho,M. and Bessho,T.
  TITLE     Evidence for the involvement of human DNA polymerase N in the
            repair of DNA interstrand cross-links
  JOURNAL   Biochemistry 48 (49), 11817-11824 (2009)
   PUBMED   19908865
  REMARK    GeneRIF: The DNA cross-linking agent mitomycin C hypersensitivity
            of PolN knockdown cells is rescued by overexpression of DNA
            polymerase-proficient PolN but not by DNA polymerase-deficient
            PolN.
REFERENCE   9  (bases 1 to 3253)
  AUTHORS   Arana,M.E., Takata,K., Garcia-Diaz,M., Wood,R.D. and Kunkel,T.A.
  TITLE     A unique error signature for human DNA polymerase nu
  JOURNAL   DNA Repair (Amst) 6 (2), 213-223 (2007)
   PUBMED   17118716
  REMARK    GeneRIF: pol nu error rates for all 12 single base-base mismatches
            and for insertion and deletion errors
REFERENCE   10 (bases 1 to 3253)
  AUTHORS   Marini,F., Kim,N., Schuffert,A. and Wood,R.D.
  TITLE     POLN, a nuclear PolA family DNA polymerase homologous to the DNA
            cross-link sensitivity protein Mus308
  JOURNAL   J Biol Chem 278 (34), 32014-32019 (2003)
   PUBMED   12794064
  REMARK    GeneRIF: identification as homolog to Mus308
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB098342.1, AK303673.1,
            AY136549.1, AL122048.1 and AL136360.21.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_181808.3.
            
            Summary: This gene encodes a DNA polymerase type-A family member.
            The encoded protein plays a role in DNA repair and homologous
            recombination. This gene shares its 5' exons with some transcripts
            from overlapping GeneID: 79441, which encodes an augmentin-like
            protein complex subunit. [provided by RefSeq, Dec 2014].
            
            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##
            CDS exon combination :: AY136549.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000511885.6/ ENSP00000435506.1
            RefSeq Select criteria    :: based on single protein-coding
                                         transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-594               DB098342.1         2-595
            595-717             AK303673.1         586-708
            718-3212            AY136549.1         364-2858
            3213-3213           AL122048.1         988-988
            3214-3253           AL136360.21        101713-101752
FEATURES             Location/Qualifiers
     source          1..3253
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..3253
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /note="DNA polymerase nu"
                     /db_xref="GeneID:353497"
                     /db_xref="HGNC:HGNC:18870"
                     /db_xref="MIM:610887"
     exon            1..71
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            72..342
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            343..487
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     CDS             355..3057
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /EC_number="2.7.7.7"
                     /note="DNA polymerase POL4P; DNA polymerase N; polymerase
                     (DNA directed) nu; polymerase (DNA) nu"
                     /codon_start=1
                     /product="DNA polymerase nu"
                     /protein_id="NP_861524.2"
                     /db_xref="CCDS:CCDS3360.1"
                     /db_xref="GeneID:353497"
                     /db_xref="HGNC:HGNC:18870"
                     /db_xref="MIM:610887"
                     /translation="MENYEALVGFDLCNTPLSSVAQKIMSAMHSGDLVDSKTWGKSTE
                     TMEVINKSSVKYSVQLEDRKTQSPEKKDLKSLRSQTSRGSAKLSPQSFSVRLTDQLSA
                     DQKQKSISSLTLSSCLIPQYNQEASVLQKKGHKRKHFLMENINNENKGSINLKRKHIT
                     YNNLSEKTSKQMALEEDTDDAEGYLNSGNSGALKKHFCDIRHLDDWAKSQLIEMLKQA
                     AALVITVMYTDGSTQLGADQTPVSSVRGIVVLVKRQAEGGHGCPDAPACGPVLEGFVS
                     DDPCIYIQIEHSAIWDQEQEAHQQFARNVLFQTMKCKCPVICFNAKDFVRIVLQFFGN
                     DGSWKHVADFIGLDPRIAAWLIDPSDATPSFEDLVEKYCEKSITVKVNSTYGNSSRNI
                     VNQNVRENLKTLYRLTMDLCSKLKDYGLWQLFRTLELPLIPILAVMESHAIQVNKEEM
                     EKTSALLGARLKELEQEAHFVAGERFLITSNNQLREILFGKLKLHLLSQRNSLPRTGL
                     QKYPSTSEAVLNALRDLHPLPKIILEYRQVHKIKSTFVDGLLACMKKGSISSTWNQTG
                     TVTGRLSAKHPNIQGISKHPIQITTPKNFKGKEDKILTISPRAMFVSSKGHTFLAADF
                     SQIELRILTHLSGDPELLKLFQESERDDVFSTLTSQWKDVPVEQVTHADREQTKKVVY
                     AVVYGAGKERLAACLGVPIQEAAQFLESFLQKYKKIKDFARAAIAQCHQTGCVVSIMG
                     RRRPLPRIHAHDQQLRAQAERQAVNFVVQGSAADLCKLAMIHVFTAVAASHTLTARLV
                     AQIHDELLFEVEDPQIPECAALVRRTMESLEQVQALELQLQVPLKVSLSAGRSWGHLV
                     PLQEAWGPPPGPCRTESPSNSLAAPGSPASTQPPPLHFSPSFCL"
     exon            488..567
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            568..1068
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            1069..1262
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            1263..1375
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            1376..1533
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            1534..1602
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            1603..1663
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            1664..1728
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            1729..1812
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            1813..1908
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            1909..1965
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            1966..2019
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            2020..2085
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            2086..2143
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            2144..2221
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            2222..2336
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            2337..2419
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            2420..2551
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            2552..2662
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            2663..2741
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            2742..2809
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            2810..2871
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     exon            2872..3253
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3188..3193
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /note="hexamer: AGTAAA"
     polyA_site      3215
                     /gene="POLN"
                     /gene_synonym="POL4P"
                     /note="major polyA site"
ORIGIN      
        1 agtgcgaggc gcgcggggca cggagggcgg tggcggcggg ctcctgcgag aagcaagcgg
       61 aacttcctga gcgtgcttag gtgtcacagc tgggtgaccc tccgaaggaa ggttttgccg
      121 ctggcgcgtc tggtgtatcg cggccttggg gccgcggatc cctggggctt gccgctgcct
      181 ctggggttcg cgcggccctg gcgtcggggc tgcctcagcg ctggctgaag gccggcccga
      241 agcaccctta attgtggccg cgcgcttccc tgctgctcct gctgttctcc gcgtcgcggt
      301 ggtggactct ggaggtggag ccttgcccgg cgagacgttg aggattttgt gaaaatggaa
      361 aattatgagg cattggtagg ctttgatctc tgtaatacac cgctctccag tgttgctcag
      421 aagattatgt ctgctatgca ttcaggtgat ttagtggatt ctaagacttg gggaaagagt
      481 acagagacta tggaagtgat aaacaagtcc agtgttaagt attcagtaca acttgaagac
      541 aggaagactc aatcaccaga aaaaaaggat cttaaatctt taagaagtca gacatcaaga
      601 ggttctgcca agctgtctcc tcagtccttc agtgtcaggc tcacagatca gctgtctgct
      661 gaccaaaaac agaagagcat cagctcattg actctttcaa gttgtttaat tccacagtat
      721 aatcaagagg cttcagttct acagaaaaag gggcataaaa gaaagcattt cctaatggag
      781 aatataaata atgaaaataa aggaagcatt aatcttaaaa gaaaacatat tacatataat
      841 aatttgtcag agaaaacaag taaacaaatg gcattggaag aagatactga tgacgccgaa
      901 ggctacctaa attctgggaa ctcaggagca ttgaaaaaac atttttgtga tattaggcat
      961 ttggatgatt gggcaaaaag ccagctgatt gaaatgctca aacaggcagc agccctggtg
     1021 ataactgtga tgtatactga tggttccacc cagctaggag ctgaccagac ccccgtttct
     1081 tctgttagag gaattgtggt gttagtaaaa cgccaagcag agggtggcca tggctgtcca
     1141 gatgccccgg cctgtggtcc tgttctggag ggctttgtgt cagatgatcc atgcatctac
     1201 attcaaatag agcactctgc tatctgggac caagaacagg aggcacatca acaatttgcc
     1261 cggaacgtgc tatttcaaac aatgaaatgt aaatgtcctg ttatttgttt taatgctaag
     1321 gattttgtga gaatagtgct gcagtttttt ggcaatgatg gcagttggaa gcatgttgct
     1381 gattttatag ggctagatcc cagaattgct gcatggctta tagatcctag tgatgccaca
     1441 ccctcttttg aagatttagt agaaaaatac tgtgaaaaat ccattacagt taaagtgaac
     1501 agcacatatg gaaattcctc aagaaatatt gtgaatcaga atgtacgtga gaacctgaag
     1561 acactctaca gacttacaat ggacctttgc tctaaactga aggattatgg tttatggcaa
     1621 ctatttcgta ctttggagct tcctctgata ccaattttgg cagtgatgga aagccatgcc
     1681 attcaggtga acaaagagga gatggagaag acgtcagcac ttcttggggc tcgtctcaag
     1741 gaattggagc aagaagctca ttttgttgca ggagaacggt ttcttataac gagcaataac
     1801 cagcttcgag agatcctctt tggcaagtta aagctgcacc tgctgagtca aaggaacagt
     1861 ctccccagaa cggggttgca gaaatacccg tctacatcag aagcagtgtt aaatgctctg
     1921 cgagaccttc atccattacc caagataatt ttggaataca ggcaggttca caagatcaag
     1981 tcaacctttg tagatggatt actagcttgc atgaaaaagg gctccatttc ctctacatgg
     2041 aatcagactg gaactgtgac tggaagactt tcagccaagc atcctaatat ccaaggtatc
     2101 tccaagcacc caattcagat tactacacct aagaatttta aaggtaaaga agacaagatt
     2161 ctcacgatct ccccgagggc catgtttgtt tcatccaaag gccacacctt tctagcagca
     2221 gacttttcac agattgaatt gcgcattctt acacatttat ctggagatcc ggaacttctg
     2281 aagttattcc aggaatctga aagagatgat gtattttcta ctctgacttc acagtggaag
     2341 gatgtgcccg tggaacaggt gacacacgca gacagagagc aaaccaagaa ggtggtgtac
     2401 gcggtggtct atggagcagg gaaggagcgg ctggctgctt gccttggagt tcctattcag
     2461 gaagctgccc agtttttgga gagttttttg cagaagtaca agaaaatcaa ggacttcgcc
     2521 cgagcagcta ttgcccagtg tcaccagaca ggctgtgtgg tgtccatcat gggcagaagg
     2581 agacccctgc caaggattca cgctcatgac cagcaactcc gggcacaagc agagcgacag
     2641 gcagtgaact tcgtggtgca aggctccgct gctgacctct gcaagctggc catgatccat
     2701 gtcttcactg cagtggctgc ttcccacacc ttgacggcca ggctggtggc ccagatccat
     2761 gatgagctgc tgtttgaagt ggaagatccg cagatcccgg agtgtgcagc tctcgtcagg
     2821 aggaccatgg agtccttgga acaggtgcag gcattggagc tgcagcttca ggtacccctc
     2881 aaggtgagcc tgagtgccgg ccgctcatgg ggacacctgg tgccactgca ggaggcctgg
     2941 ggccctccgc caggcccatg tcgcactgag tctcccagca acagcctggc tgcccctggg
     3001 tcccctgcca gcacccagcc cccacccctg catttttcgc cttcattttg tctgtagccc
     3061 caggcaacag tgggaggaga gaactggttt ccagcagtcc attgtgtggc cttccccaag
     3121 gtcaccagct ctgtacgccc caggacgcat taaccctttg gggctggggt ggcccgccat
     3181 cccctggagt aaatgcctgt gcaaagccct cctcatcctt gtctgagtga attcttcctg
     3241 tgagtgggaa gtg
//
