LOCUS       NM_013284               2806 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens DNA polymerase mu (POLM), transcript variant 1, mRNA.
ACCESSION   NM_013284 XM_498189
VERSION     NM_013284.4
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 2806)
  AUTHORS   Guo,M., Wang,Y., Tang,Y., Chen,Z., Hou,J., Dai,J., Wang,Y.,
            Wang,L., Xu,H., Tian,B., Hua,Y. and Zhao,Y.
  TITLE     Mechanism of genome instability mediated by human DNA polymerase mu
            misincorporation
  JOURNAL   Nat Commun 12 (1), 3759 (2021)
   PUBMED   34145298
  REMARK    GeneRIF: Mechanism of genome instability mediated by human DNA
            polymerase mu misincorporation.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2806)
  AUTHORS   Shilkin,E.S., Gromova,A.S., Smal,M.P. and Makarova,A.V.
  TITLE     DNA Polymerase and dRP-lyase activities of polymorphic variants of
            human Pol iota
  JOURNAL   Biochem J 478 (7), 1399-1412 (2021)
   PUBMED   33600564
  REMARK    GeneRIF: DNA Polymerase and dRP-lyase activities of polymorphic
            variants of human Pol iota.
REFERENCE   3  (bases 1 to 2806)
  AUTHORS   Kaminski,A.M., Bebenek,K., Pedersen,L.C. and Kunkel,T.A.
  TITLE     DNA polymerase mu: An inflexible scaffold for substrate flexibility
  JOURNAL   DNA Repair (Amst) 93, 102932 (2020)
   PUBMED   33087269
  REMARK    GeneRIF: DNA polymerase mu: An inflexible scaffold for substrate
            flexibility.
            Review article
REFERENCE   4  (bases 1 to 2806)
  AUTHORS   Caglayan,M. and Wilson,S.H.
  TITLE     Pol mu dGTP mismatch insertion opposite T coupled with ligation
            reveals promutagenic DNA repair intermediate
  JOURNAL   Nat Commun 9 (1), 4213 (2018)
   PUBMED   30310068
  REMARK    GeneRIF: pol mu-mediated deoxyguanosine triphosphate mismatch
            insertion opposite template base T coupled with ligation could be a
            feature of mutation prone nonhomologous end joining during
            double-strand break repair.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2806)
  AUTHORS   Sastre-Moreno,G., Pryor,J.M., Diaz-Talavera,A., Ruiz,J.F.,
            Ramsden,D.A. and Blanco,L.
  TITLE     Polmu tumor variants decrease the efficiency and accuracy of NHEJ
  JOURNAL   Nucleic Acids Res 45 (17), 10018-10031 (2017)
   PUBMED   28973441
  REMARK    GeneRIF: Polmu point mutations affecting 2 conserved adjacent
            residues located in the 8 kDa domain, G174S and R175H, limit the
            efficiency of accurate NHEJ by Polmu in vitro and in vivo due to
            decreased template dependency during NHEJ, which renders the
            error-rate of the mutants higher due to the ability of Polmu to
            randomly incorporate nucleotides at DSBs.
REFERENCE   6  (bases 1 to 2806)
  AUTHORS   Duvauchelle,J.B., Blanco,L., Fuchs,R.P. and Cordonnier,A.M.
  TITLE     Human DNA polymerase mu (Pol mu) exhibits an unusual replication
            slippage ability at AAF lesion
  JOURNAL   Nucleic Acids Res 30 (9), 2061-2067 (2002)
   PUBMED   11972346
  REMARK    GeneRIF: DNA polymerase mu performs DNA synthesis at a AAF lesion
REFERENCE   7  (bases 1 to 2806)
  AUTHORS   Shimazaki,N., Fujita,K. and Koiwai,O.
  TITLE     [Expression and function of terminal deoxynucleotidyl-transferase
            and discovery of novel DNA polymerase mu]
  JOURNAL   Seikagaku 74 (3), 227-232 (2002)
   PUBMED   11974916
  REMARK    GeneRIF: role in DNA repair
            Review article
REFERENCE   8  (bases 1 to 2806)
  AUTHORS   Haracska,L., Johnson,R.E., Unk,I., Phillips,B.B., Hurwitz,J.,
            Prakash,L. and Prakash,S.
  TITLE     Targeting of human DNA polymerase iota to the replication machinery
            via interaction with PCNA
  JOURNAL   Proc Natl Acad Sci U S A 98 (25), 14256-14261 (2001)
   PUBMED   11724965
REFERENCE   9  (bases 1 to 2806)
  AUTHORS   Aoufouchi,S., Flatter,E., Dahan,A., Faili,A., Bertocci,B.,
            Storck,S., Delbos,F., Cocea,L., Gupta,N., Weill,J.C. and
            Reynaud,C.A.
  TITLE     Two novel human and mouse DNA polymerases of the polX family
  JOURNAL   Nucleic Acids Res 28 (18), 3684-3693 (2000)
   PUBMED   10982892
REFERENCE   10 (bases 1 to 2806)
  AUTHORS   Dominguez,O., Ruiz,J.F., Lain de Lera,T., Garcia-Diaz,M.,
            Gonzalez,M.A., Kirchhoff,T., Martinez-A,C., Bernad,A. and Blanco,L.
  TITLE     DNA polymerase mu (Pol mu), homologous to TdT, could act as a DNA
            mutator in eukaryotic cells
  JOURNAL   EMBO J 19 (7), 1731-1742 (2000)
   PUBMED   10747040
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AU309799.1, AF176097.1 and AA917987.1.
            
            On Nov 23, 2018 this sequence version replaced NM_013284.3.
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: AJ131891.2, AF176097.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000242248.10/ ENSP00000242248.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-50                AU309799.1         11-60
            51-2611             AF176097.1         1-2561
            2612-2806           AA917987.1         10-204              c
FEATURES             Location/Qualifiers
     source          1..2806
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p13"
     gene            1..2806
                     /gene="POLM"
                     /gene_synonym="Pol Mu; Tdt-N"
                     /note="DNA polymerase mu"
                     /db_xref="GeneID:27434"
                     /db_xref="HGNC:HGNC:9185"
                     /db_xref="MIM:606344"
     exon            1..280
                     /gene="POLM"
                     /gene_synonym="Pol Mu; Tdt-N"
                     /inference="alignment:Splign:2.1.0"
     CDS             93..1577
                     /gene="POLM"
                     /gene_synonym="Pol Mu; Tdt-N"
                     /EC_number="2.7.7.7"
                     /note="isoform 1 is encoded by transcript variant 1;
                     polymerase (DNA-directed), mu; Pol iota; polymerase (DNA)
                     mu; DNA-directed DNA/RNA polymerase mu; terminal
                     transferase"
                     /codon_start=1
                     /product="DNA-directed DNA/RNA polymerase mu isoform 1"
                     /protein_id="NP_037416.1"
                     /db_xref="CCDS:CCDS34625.1"
                     /db_xref="GeneID:27434"
                     /db_xref="HGNC:HGNC:9185"
                     /db_xref="MIM:606344"
                     /translation="MLPKRRRARVGSPSGDAASSTPPSTRFPGVAIYLVEPRMGRSRR
                     AFLTGLARSKGFRVLDACSSEATHVVMEETSAEEAVSWQERRMAAAPPGCTPPALLDI
                     SWLTESLGAGQPVPVECRHRLEVAGPRKGPLSPAWMPAYACQRPTPLTHHNTGLSEAL
                     EILAEAAGFEGSEGRLLTFCRAASVLKALPSPVTTLSQLQGLPHFGEHSSRVVQELLE
                     HGVCEEVERVRRSERYQTMKLFTQIFGVGVKTADRWYREGLRTLDDLREQPQKLTQQQ
                     KAGLQHHQDLSTPVLRSDVDALQQVVEEAVGQALPGATVTLTGGFRRGKLQGHDVDFL
                     ITHPKEGQEAGLLPRVMCRLQDQGLILYHQHQHSCCESPTRLAQQSHMDAFERSFCIF
                     RLPQPPGAAVGGSTRPCPSWKAVRVDLVVAPVSQFPFALLGWTGSKLFQRELRRFSRK
                     EKGLWLNSHGLFDPEQKTFFQAASEEDIFRHLGLEYLPPEQRNA"
     exon            281..464
                     /gene="POLM"
                     /gene_synonym="Pol Mu; Tdt-N"
                     /inference="alignment:Splign:2.1.0"
     exon            465..563
                     /gene="POLM"
                     /gene_synonym="Pol Mu; Tdt-N"
                     /inference="alignment:Splign:2.1.0"
     exon            564..734
                     /gene="POLM"
                     /gene_synonym="Pol Mu; Tdt-N"
                     /inference="alignment:Splign:2.1.0"
     exon            735..806
                     /gene="POLM"
                     /gene_synonym="Pol Mu; Tdt-N"
                     /inference="alignment:Splign:2.1.0"
     exon            807..927
                     /gene="POLM"
                     /gene_synonym="Pol Mu; Tdt-N"
                     /inference="alignment:Splign:2.1.0"
     exon            928..1060
                     /gene="POLM"
                     /gene_synonym="Pol Mu; Tdt-N"
                     /inference="alignment:Splign:2.1.0"
     exon            1061..1163
                     /gene="POLM"
                     /gene_synonym="Pol Mu; Tdt-N"
                     /inference="alignment:Splign:2.1.0"
     exon            1164..1406
                     /gene="POLM"
                     /gene_synonym="Pol Mu; Tdt-N"
                     /inference="alignment:Splign:2.1.0"
     exon            1407..1490
                     /gene="POLM"
                     /gene_synonym="Pol Mu; Tdt-N"
                     /inference="alignment:Splign:2.1.0"
     exon            1491..2806
                     /gene="POLM"
                     /gene_synonym="Pol Mu; Tdt-N"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2591..2596
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POLM"
                     /gene_synonym="Pol Mu; Tdt-N"
                     /note="hexamer: ATTAAA"
     polyA_site      2621
                     /gene="POLM"
                     /gene_synonym="Pol Mu; Tdt-N"
                     /note="major polyA site"
     regulatory      2780..2785
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POLM"
                     /gene_synonym="Pol Mu; Tdt-N"
                     /note="hexamer: AATAGA"
     polyA_site      2806
                     /gene="POLM"
                     /gene_synonym="Pol Mu; Tdt-N"
ORIGIN      
        1 acccgcttcc gtcagcctca ctggggcttc cttccgtctc gctcggagtt tccctctgcg
       61 ttcgctccgc gctgctggag gctgtcgtcc caatgctccc caaacggcgg cgagcgcggg
      121 tcgggtcccc tagcggcgat gccgcttcct ccacgccgcc ctcgacgcgc ttcccgggag
      181 tcgccatcta cctggtcgag cctcgcatgg gtcgcagccg ccgggccttc ctcacaggcc
      241 tggcgcgctc caaaggcttc cgcgtccttg acgcctgcag ctccgaagcg acacatgttg
      301 tgatggaaga gacctcagca gaggaggccg tcagctggca ggagcgcagg atggcagctg
      361 ctcccccggg ttgcaccccc ccagctctgc tggacataag ctggttaaca gagagcctgg
      421 gagctgggca gcctgtacct gtggagtgcc ggcaccgcct ggaggtggct gggccaagga
      481 aggggcctct gagcccagca tggatgcctg cctatgcctg ccagcgccct acgcccctca
      541 cacaccacaa cactggcctc tccgaggctc tggagatact ggccgaggca gcaggctttg
      601 aaggcagtga gggccgcctc ctcaccttct gcagagcagc ctcggtgctc aaggcccttc
      661 ccagccctgt cacaaccctg agccagctgc aggggcttcc ccactttgga gaacactcct
      721 ctagggttgt ccaggagctg ctggagcatg gagtgtgtga ggaggtggag agagttcggc
      781 gctcagagag gtaccagacc atgaagctct tcacccagat cttcggggtc ggtgtgaaga
      841 ctgctgaccg gtggtaccgg gaaggactgc gaaccttaga tgacctccga gagcagcccc
      901 agaaactaac ccaacagcag aaagcggggc tccagcacca ccaggacctg agcaccccag
      961 tcctgcggtc cgatgtagat gccctgcagc aggtggtgga ggaagctgtg gggcaggccc
     1021 tgcctggggc caccgtcacg ctgaccggcg gcttccgcag ggggaagttg cagggccatg
     1081 acgtggactt cctcatcacc caccccaagg agggtcagga ggcggggctg ctgcctagag
     1141 tgatgtgccg cctgcaggac cagggcctca tcctgtacca ccagcaccag cacagctgct
     1201 gtgagtcccc tacccgcctg gcccaacaga gccacatgga cgcttttgag agaagtttct
     1261 gcattttccg cctaccacaa cctccagggg ctgctgtggg gggatccacg aggccctgcc
     1321 catcctggaa ggccgtgaga gtggacttgg tagttgcacc cgtcagccag ttccctttcg
     1381 ccctgctcgg ttggactggc tccaagcttt tccagcggga gctgcgccgc ttcagccgga
     1441 aggagaaggg cctgtggctg aacagccatg ggctgtttga cccggagcag aagacatttt
     1501 tccaagcggc ttcagaggaa gacatcttca gacacctggg ccttgagtac cttcctccag
     1561 agcagagaaa cgcctgagcc tgcctgtgtc ccccacttcc actcaggaaa ttgggctgcc
     1621 cccaacctgg ccactgaatg tctccaggca gatatgctgc cccctgaccc ccaccttcac
     1681 ccctccccgc caaggcctgg ctcttccgga ggtcaattgt gcctgcagga tcagttgagc
     1741 ccctgctggt gtgctgcagg gtgtgatgag gtgggagccc tcagtgccag cctcatcact
     1801 gtgtgaccct gggtctgctc ttagcctccc catggctcac gttcctgccc tggatgggat
     1861 gtgagtgggg cccacatcgt ggagctgtgg tggggcctgc agtcatgaat ggcaagtggt
     1921 ccctgatgtg cagtgtctca ttagttgcac tgcagttaac tgtggctcct gcagggcacc
     1981 ctgcccagaa tgcccagaag agaaccatgc atacctgcac tgcatttgag agccatgagc
     2041 tggaggctgt ggttcgtgcc agcaaggagc ctactgtctg gtgtgctgta ggcatctgga
     2101 gagggagagg gcctgggtag gagctgggag gaagataatt ttcaactatg gggcttcagt
     2161 actgcagcgc cccgagccag gctctgtgct tctgccttta aggcctgttc tcagcacaat
     2221 gtctcaaaaa taggtcatat cctgccactc ccgtcgcaga gccctttaat ggttccaaac
     2281 cctaagtcca cacatagccc ctggctctgg catctctcca gccccactgg ccccgagctg
     2341 cttgactcac cggcttccta tttgatgcac ccaggccccc ttgtggccaa ctccctcccc
     2401 ttctcactga ggcagaagca ctgaggtggg ctggacatgg gtgccctcca cgtccctcat
     2461 atccccaggc acactctggc ctcaggtttt gccctggcca tgtcatctac ctggagtggg
     2521 ccctcccctt cttcaggcct tgaatcaaaa gccactttgt taggcgagga tttcccagac
     2581 cactcatcac attaaaaaat attttgaaaa catgcagtaa agttgactct tggggtgcag
     2641 tttttgcaca cgtagggcac accaggtcca tccccagaac acttcccatg ctgtcctatt
     2701 gtggtcatgt gcttctccac ccccacccac ttagcggtgc tacatcccta tagttttgct
     2761 ttctctagaa tgtcatgtaa atagaaccaa actatattta accttt
//
