LOCUS       NM_002690               1290 bp    mRNA    linear   PRI 11-SEP-2024
DEFINITION  Homo sapiens DNA polymerase beta (POLB), mRNA.
ACCESSION   NM_002690
VERSION     NM_002690.3
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 1290)
  AUTHORS   Alnajjar,K.S., Wang,K., Alvarado-Cruz,I., Chavira,C., Negahbani,A.,
            Nakhjiri,M., Minard,C., Garcia-Barboza,B., Kashemirov,B.A.,
            McKenna,C.E., Goodman,M.F. and Sweasy,J.B.
  TITLE     Modifying the Basicity of the dNTP Leaving Group Modulates
            Precatalytic Conformational Changes of DNA Polymerase beta
  JOURNAL   Biochemistry 63 (11), 1412-1422 (2024)
   PUBMED   38780930
  REMARK    GeneRIF: Modifying the Basicity of the dNTP Leaving Group Modulates
            Precatalytic Conformational Changes of DNA Polymerase beta.
REFERENCE   2  (bases 1 to 1290)
  AUTHORS   Kladova,O.A., Tyugashev,T.E., Miroshnikov,A.A., Novopashina,D.S.,
            Kuznetsov,N.A. and Kuznetsova,A.A.
  TITLE     SNP-Associated Substitutions of Amino Acid Residues in the dNTP
            Selection Subdomain Decrease Polbeta Polymerase Activity
  JOURNAL   Biomolecules 14 (5), 547 (2024)
   PUBMED   38785954
  REMARK    GeneRIF: SNP-Associated Substitutions of Amino Acid Residues in the
            dNTP Selection Subdomain Decrease Polbeta Polymerase Activity.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1290)
  AUTHORS   Kladova,O.A., Tyugashev,T.E., Yakimov,D.V., Mikushina,E.S.,
            Novopashina,D.S., Kuznetsov,N.A. and Kuznetsova,A.A.
  TITLE     The Impact of SNP-Induced Amino Acid Substitutions L19P and G66R in
            the dRP-Lyase Domain of Human DNA Polymerase beta on Enzyme
            Activities
  JOURNAL   Int J Mol Sci 25 (8), 4182 (2024)
   PUBMED   38673769
  REMARK    GeneRIF: The Impact of SNP-Induced Amino Acid Substitutions L19P
            and G66R in the dRP-Lyase Domain of Human DNA Polymerase beta on
            Enzyme Activities.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1290)
  AUTHORS   Almohdar,D., Gulkis,M., Ortiz,A., Tang,Q., Sobol,R.W. and
            Caglayan,M.
  TITLE     Impact of polbeta/XRCC1 Interaction Variants on the Efficiency of
            Nick Sealing by DNA Ligase IIIalpha in the Base Excision Repair
            Pathway
  JOURNAL   J Mol Biol 436 (4), 168410 (2024)
   PUBMED   38135179
  REMARK    GeneRIF: Impact of polbeta/XRCC1 Interaction Variants on the
            Efficiency of Nick Sealing by DNA Ligase IIIalpha in the Base
            Excision Repair Pathway.
REFERENCE   5  (bases 1 to 1290)
  AUTHORS   Chen,S., Zhang,W., Li,X., Cao,Z. and Liu,C.
  TITLE     DNA polymerase beta connects tumorigenicity with the circadian
            clock in liver cancer through the epigenetic demethylation of Per1
  JOURNAL   Cell Death Dis 15 (1), 78 (2024)
   PUBMED   38245510
  REMARK    GeneRIF: DNA polymerase beta connects tumorigenicity with the
            circadian clock in liver cancer through the epigenetic
            demethylation of Per1.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1290)
  AUTHORS   Date,T., Tanihara,K., Yamamoto,S., Nomura,N. and Matsukage,A.
  TITLE     Two regions in human DNA polymerase beta mRNA suppress translation
            in Escherichia coli
  JOURNAL   Nucleic Acids Res 20 (18), 4859-4864 (1992)
   PUBMED   1408801
REFERENCE   7  (bases 1 to 1290)
  AUTHORS   Wang,L., Patel,U., Ghosh,L. and Banerjee,S.
  TITLE     DNA polymerase beta mutations in human colorectal cancer
  JOURNAL   Cancer Res 52 (17), 4824-4827 (1992)
   PUBMED   1511447
REFERENCE   8  (bases 1 to 1290)
  AUTHORS   Tokui,T., Inagaki,M., Nishizawa,K., Yatani,R., Kusagawa,M.,
            Ajiro,K., Nishimoto,Y., Date,T. and Matsukage,A.
  TITLE     Inactivation of DNA polymerase beta by in vitro phosphorylation
            with protein kinase C
  JOURNAL   J Biol Chem 266 (17), 10820-10824 (1991)
   PUBMED   2040602
REFERENCE   9  (bases 1 to 1290)
  AUTHORS   Zmudzka,B.Z., Fornace,A., Collins,J. and Wilson,S.H.
  TITLE     Characterization of DNA polymerase beta mRNA: cell-cycle and growth
            response in cultured human cells
  JOURNAL   Nucleic Acids Res 16 (20), 9587-9596 (1988)
   PUBMED   2460824
REFERENCE   10 (bases 1 to 1290)
  AUTHORS   SenGupta,D.N., Zmudzka,B.Z., Kumar,P., Cobianchi,F., Skowronski,J.
            and Wilson,S.H.
  TITLE     Sequence of human DNA polymerase beta mRNA obtained through cDNA
            cloning
  JOURNAL   Biochem Biophys Res Commun 136 (1), 341-347 (1986)
   PUBMED   2423078
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP370570.1, D29013.1 and
            BM678092.1.
            
            On Nov 23, 2018 this sequence version replaced NM_002690.2.
            
            Summary: The protein encoded by this gene is a DNA polymerase
            involved in base excision and repair, also called gap-filling DNA
            synthesis. The encoded protein, acting as a monomer, is normally
            found in the cytoplasm, but it translocates to the nucleus upon DNA
            damage. Several transcript variants of this gene exist, but the
            full-length nature of only one has been described to date.
            [provided by RefSeq, Sep 2011].
            
            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 :: BC100288.1, AK223537.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265421.9/ ENSP00000265421.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                BP370570.1         40-57
            19-1277             D29013.1           1-1259
            1278-1290           BM678092.1         23-35               c
FEATURES             Location/Qualifiers
     source          1..1290
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.21"
     gene            1..1290
                     /gene="POLB"
                     /note="DNA polymerase beta"
                     /db_xref="GeneID:5423"
                     /db_xref="HGNC:HGNC:9174"
                     /db_xref="MIM:174760"
     exon            1..192
                     /gene="POLB"
                     /inference="alignment:Splign:2.1.0"
     CDS             132..1139
                     /gene="POLB"
                     /EC_number="2.7.7.7"
                     /EC_number="4.2.99.18"
                     /note="DNA polymerase beta subunit; polymerase (DNA
                     directed), beta; DNA pol beta; polymerase (DNA) beta; AP
                     lyase; 5'-dRP lyase; 5'-deoxyribose-phosphate lyase"
                     /codon_start=1
                     /product="DNA polymerase beta"
                     /protein_id="NP_002681.1"
                     /db_xref="CCDS:CCDS6129.1"
                     /db_xref="GeneID:5423"
                     /db_xref="HGNC:HGNC:9174"
                     /db_xref="MIM:174760"
                     /translation="MSKRKAPQETLNGGITDMLTELANFEKNVSQAIHKYNAYRKAAS
                     VIAKYPHKIKSGAEAKKLPGVGTKIAEKIDEFLATGKLRKLEKIRQDDTSSSINFLTR
                     VSGIGPSAARKFVDEGIKTLEDLRKNEDKLNHHQRIGLKYFGDFEKRIPREEMLQMQD
                     IVLNEVKKVDSEYIATVCGSFRRGAESSGDMDVLLTHPSFTSESTKQPKLLHQVVEQL
                     QKVHFITDTLSKGETKFMGVCQLPSKNDEKEYPHRRIDIRLIPKDQYYCGVLYFTGSD
                     IFNKNMRAHALEKGFTINEYTIRPLGVTGVAGEPLPVDSEKDIFDYIQWKYREPKDRS
                     E"
     exon            193..250
                     /gene="POLB"
                     /inference="alignment:Splign:2.1.0"
     exon            251..317
                     /gene="POLB"
                     /inference="alignment:Splign:2.1.0"
     exon            318..392
                     /gene="POLB"
                     /inference="alignment:Splign:2.1.0"
     exon            393..451
                     /gene="POLB"
                     /inference="alignment:Splign:2.1.0"
     exon            452..501
                     /gene="POLB"
                     /inference="alignment:Splign:2.1.0"
     exon            502..553
                     /gene="POLB"
                     /inference="alignment:Splign:2.1.0"
     exon            554..608
                     /gene="POLB"
                     /inference="alignment:Splign:2.1.0"
     exon            609..681
                     /gene="POLB"
                     /inference="alignment:Splign:2.1.0"
     exon            682..752
                     /gene="POLB"
                     /inference="alignment:Splign:2.1.0"
     exon            753..839
                     /gene="POLB"
                     /inference="alignment:Splign:2.1.0"
     exon            840..904
                     /gene="POLB"
                     /inference="alignment:Splign:2.1.0"
     exon            905..1044
                     /gene="POLB"
                     /inference="alignment:Splign:2.1.0"
     exon            1045..1290
                     /gene="POLB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1269..1274
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POLB"
                     /note="hexamer: AATAAA"
     polyA_site      1290
                     /gene="POLB"
                     /note="major polyA site"
ORIGIN      
        1 attgttccgc cggtcgcgcc ggagctgggt tgctcctgct cccgtctcca agtcctggta
       61 cctccttcaa gctgggagag ggctctagtc cctggttctg aacactctgg ggttctcggg
      121 tgcaggccgc catgagcaaa cggaaggcgc cgcaggagac tctcaacggg ggaatcaccg
      181 acatgctcac agaactcgca aactttgaga agaacgtgag ccaagctatc cacaagtaca
      241 atgcttacag aaaagcagca tctgttatag caaaataccc acacaaaata aagagtggag
      301 ctgaagctaa gaaattgcct ggagtaggaa caaaaattgc tgaaaagatt gatgagtttt
      361 tagcaactgg aaaattacgt aaactggaaa agattcggca ggatgatacg agttcatcca
      421 tcaatttcct gactcgagtt agtggcattg gtccatctgc tgcaaggaag tttgtagatg
      481 aaggaattaa aacactagaa gatctcagaa aaaatgaaga taaattgaac catcatcagc
      541 gaattgggct gaaatatttt ggggactttg aaaaaagaat tcctcgtgaa gagatgttac
      601 aaatgcaaga tattgtacta aatgaagtta aaaaagtgga ttctgaatac attgctacag
      661 tctgtggcag tttcagaaga ggtgcagagt ccagtggtga catggatgtt ctcctgaccc
      721 atcccagctt cacttcagaa tcaaccaaac agccaaaact gttacatcag gttgtggagc
      781 agttacaaaa ggttcatttt atcacagata ccctgtcaaa gggtgagaca aagttcatgg
      841 gtgtttgcca gcttcccagt aaaaatgatg aaaaagaata tccacacaga agaattgata
      901 tcaggttgat acccaaagat cagtattact gtggtgttct ctatttcact gggagtgata
      961 ttttcaataa gaatatgagg gctcatgccc tagaaaaggg tttcacaatc aatgagtaca
     1021 ccatccgtcc cttgggagtc actggagttg caggagaacc cctgccagtg gatagtgaaa
     1081 aagacatctt tgattacatc cagtggaaat accgggaacc caaggaccgg agcgaatgag
     1141 gcctgtatcc tccctggcag acacaaccca ataggagtct taatttattt cttaaccttt
     1201 gctatgtaag ggtctttggt gtttttaaat gattgtttct tcttcatgct tttgcttgca
     1261 atgtagtcaa taaaacctca tgtactatta
//
