LOCUS       NM_001308382            1623 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens DNA polymerase lambda (POLL), transcript variant 5,
            mRNA.
ACCESSION   NM_001308382 XM_006717778
VERSION     NM_001308382.2
KEYWORDS    RefSeq.
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 1623)
  AUTHORS   Ghazi,M., Khanna,S., Subramaniam,Y., Rengaraju,J., Sultan,F.,
            Gupta,I., Sharma,K., Chandna,S., Gokhale,R.S. and Natarajan,V.T.
  TITLE     Sustained pigmentation causes DNA damage and invokes translesion
            polymerase Polkappa for repair in melanocytes
  JOURNAL   Nucleic Acids Res 51 (19), 10451-10466 (2023)
   PUBMED   37697436
  REMARK    GeneRIF: Sustained pigmentation causes DNA damage and invokes
            translesion polymerase Polkappa for repair in melanocytes.
REFERENCE   2  (bases 1 to 1623)
  AUTHORS   Mentegari,E., Bertoletti,F., Kissova,M., Zucca,E., Galli,S.,
            Tagliavini,G., Garbelli,A., Maffia,A., Bione,S., Ferrari,E.,
            Fagagna,F.D.D., Francia,S., Sabbioneda,S., Chen,L.Y., Lingner,J.,
            Bergoglio,V., Hoffmann,J.S., Hubscher,U., Crespan,E. and Maga,G.
  TITLE     A Role for Human DNA Polymerase lambda in Alternative Lengthening
            of Telomeres
  JOURNAL   Int J Mol Sci 22 (5), 2365 (2021)
   PUBMED   33673424
  REMARK    GeneRIF: A Role for Human DNA Polymerase lambda in Alternative
            Lengthening of Telomeres.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1623)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1623)
  AUTHORS   Craxton,A., Munnur,D., Jukes-Jones,R., Skalka,G., Langlais,C.,
            Cain,K. and Malewicz,M.
  TITLE     PAXX and its paralogs synergistically direct DNA polymerase lambda
            activity in DNA repair
  JOURNAL   Nat Commun 9 (1), 3877 (2018)
   PUBMED   30250067
  REMARK    GeneRIF: PAXX, XLF and XRCC4 synergise in the efficient DNA
            double-strand breaks recruitment, substrate recognition and
            stimulation of Pol lambda enzymatic activity during nonhomologous
            end joining DNA repair.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1623)
  AUTHORS   van Loon,B., Hubscher,U. and Maga,G.
  TITLE     Living on the Edge: DNA Polymerase Lambda between Genome Stability
            and Mutagenesis
  JOURNAL   Chem Res Toxicol 30 (11), 1936-1941 (2017)
   PUBMED   28841305
  REMARK    GeneRIF: When mutated or deregulated, DNA polymerase lambda can
            also be a source of genetic instability. Its multiple roles in DNA
            damage tolerance and its ability in promoting tumor progression
            make it also a possible target for novel anticancer approaches.
            [review]
            Review article
REFERENCE   6  (bases 1 to 1623)
  AUTHORS   Haracska,L., Unk,I., Johnson,R.E., Phillips,B.B., Hurwitz,J.,
            Prakash,L. and Prakash,S.
  TITLE     Stimulation of DNA synthesis activity of human DNA polymerase kappa
            by PCNA
  JOURNAL   Mol Cell Biol 22 (3), 784-791 (2002)
   PUBMED   11784855
REFERENCE   7  (bases 1 to 1623)
  AUTHORS   Garcia-Diaz,M., Bebenek,K., Kunkel,T.A. and Blanco,L.
  TITLE     Identification of an intrinsic 5'-deoxyribose-5-phosphate lyase
            activity in human DNA polymerase lambda: a possible role in base
            excision repair
  JOURNAL   J Biol Chem 276 (37), 34659-34663 (2001)
   PUBMED   11457865
REFERENCE   8  (bases 1 to 1623)
  AUTHORS   Nagasawa,K., Kitamura,K., Yasui,A., Nimura,Y., Ikeda,K., Hirai,M.,
            Matsukage,A. and Nakanishi,M.
  TITLE     Identification and characterization of human DNA polymerase beta 2,
            a DNA polymerase beta -related enzyme
  JOURNAL   J Biol Chem 275 (40), 31233-31238 (2000)
   PUBMED   10887191
REFERENCE   9  (bases 1 to 1623)
  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 1623)
  AUTHORS   Garcia-Diaz,M., Dominguez,O., Lopez-Fernandez,L.A., de Lera,L.T.,
            Saniger,M.L., Ruiz,J.F., Parraga,M., Garcia-Ortiz,M.J.,
            Kirchhoff,T., del Mazo,J., Bernad,A. and Blanco,L.
  TITLE     DNA polymerase lambda (Pol lambda), a novel eukaryotic DNA
            polymerase with a potential role in meiosis
  JOURNAL   J Mol Biol 301 (4), 851-867 (2000)
   PUBMED   10966791
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA107389.1, BI906881.1 and
            AF161019.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001308382.1.
            
            Summary: This gene encodes a DNA polymerase. DNA polymerases
            catalyze DNA-template-directed extension of the 3'-end of a DNA
            strand. This particular polymerase, which is a member of the X
            family of DNA polymerases, likely plays a role in non-homologous
            end joining and other DNA repair processes. Alternatively spliced
            transcript variants have been described. [provided by RefSeq, Mar
            2010].
            
            Transcript Variant: This variant (5) lacks three exons in the 5'
            coding region, compared to variant 1. This results in the use of an
            alternate start codon and a frameshifted 5' coding region. The
            encoded isoform (c) has a shorter and distinct N-terminus compared
            to isoform a.
            
            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 :: SRR3476690.423484.1, BI906881.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2163105 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-44                DA107389.1         14-57
            45-113              BI906881.1         19-87
            114-114             AF161019.1         75-75
            115-547             BI906881.1         88-520
            548-1623            AF161019.1         1285-2360
FEATURES             Location/Qualifiers
     source          1..1623
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.32"
     gene            1..1623
                     /gene="POLL"
                     /gene_synonym="BETAN; POLKAPPA"
                     /note="DNA polymerase lambda"
                     /db_xref="GeneID:27343"
                     /db_xref="HGNC:HGNC:9184"
                     /db_xref="MIM:606343"
     exon            1..54
                     /gene="POLL"
                     /gene_synonym="BETAN; POLKAPPA"
                     /inference="alignment:Splign:2.1.0"
     exon            55..215
                     /gene="POLL"
                     /gene_synonym="BETAN; POLKAPPA"
                     /inference="alignment:Splign:2.1.0"
     CDS             150..1052
                     /gene="POLL"
                     /gene_synonym="BETAN; POLKAPPA"
                     /EC_number="2.7.7.7"
                     /note="isoform c is encoded by transcript variant 5; DNA
                     polymerase beta-2; polymerase (DNA) lambda; DNA polymerase
                     beta-N; polymerase (DNA directed), lambda; DNA polymerase
                     kappa"
                     /codon_start=1
                     /product="DNA polymerase lambda isoform c"
                     /protein_id="NP_001295311.1"
                     /db_xref="CCDS:CCDS76332.1"
                     /db_xref="GeneID:27343"
                     /db_xref="HGNC:HGNC:9184"
                     /db_xref="MIM:606343"
                     /translation="MLMHHQKYLQRFLGGKREKKQKEACSIPGIGKRMAEKIIEILES
                     GHLRKLDHISESVPVLELFSNIWGAGTKTAQMWYQQGFRSLEDIRSQASLTTQQAIGL
                     KHYSDFLERMPREEATEIEQTVQKAAQAFNSGLLCVACGSYRRGKATCGDVDVLITHP
                     DGRSHRGIFSRLLDSLRQEGFLTDDLVSQEENGQQQKYLGVCRLPGPGRRHRRLDIIV
                     VPYSEFACALLYFTGSAHFNRSMRALAKTKGMSLSEHALSTAVVRNTHGCKVGPGRVL
                     PTPTEKDVFRLLGLPYREPAERDW"
     exon            216..389
                     /gene="POLL"
                     /gene_synonym="BETAN; POLKAPPA"
                     /inference="alignment:Splign:2.1.0"
     exon            390..518
                     /gene="POLL"
                     /gene_synonym="BETAN; POLKAPPA"
                     /inference="alignment:Splign:2.1.0"
     exon            519..687
                     /gene="POLL"
                     /gene_synonym="BETAN; POLKAPPA"
                     /inference="alignment:Splign:2.1.0"
     exon            688..1623
                     /gene="POLL"
                     /gene_synonym="BETAN; POLKAPPA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1601..1606
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POLL"
                     /gene_synonym="BETAN; POLKAPPA"
                     /note="hexamer: AGTAAA"
     polyA_site      1623
                     /gene="POLL"
                     /gene_synonym="BETAN; POLKAPPA"
                     /note="major polyA site"
ORIGIN      
        1 attctggcca tttgccctcc ttcccccctt cgtccgctct cattggctct gctgcagccc
       61 tgaccaacgc tccaataggc cgggatccag ccatacttca atggatccca ggggtatctt
      121 gaaggcattt cccaagcggc agaaaattca tgctgatgca tcatcaaaag tacttgcaaa
      181 gattcctagg agggaagagg gagaagaagc agaaggaggc ctgcagtatc cctgggattg
      241 ggaagcggat ggctgagaaa atcatagaga tcctggagag cgggcatttg cggaagctgg
      301 accatatcag tgagagcgtg cctgtcttgg agctcttctc caacatctgg ggagctggga
      361 ccaagactgc ccagatgtgg taccaacagg gcttccgaag tctggaagac atccgcagcc
      421 aggcctccct gacaacccag caggccatcg gcctgaagca ttacagtgac ttcctggaac
      481 gtatgcccag ggaggaggct acagagattg agcagacagt ccagaaagca gcccaggcct
      541 ttaactctgg gctgctgtgt gtggcatgtg gttcataccg acggggaaag gcgacctgtg
      601 gtgatgtcga cgtgctcatc actcacccag atggccggtc ccaccggggt atcttcagcc
      661 gcctccttga cagtcttcgg caggaagggt tcctcacaga tgacttggtg agccaagagg
      721 agaatggtca gcaacagaag tacttggggg tgtgccggct cccagggcca gggcggcggc
      781 accggcgcct ggacatcatc gtggtgccct atagcgagtt tgcctgtgcc ctgctctact
      841 tcaccggctc tgcacacttc aaccgctcca tgcgagccct ggccaaaacc aagggcatga
      901 gtctgtcaga acatgccctc agcactgctg tggtccggaa cacccatggc tgcaaggtgg
      961 ggcctggccg agtgctgccc actcccactg agaaggatgt cttcaggctc ttaggcctcc
     1021 cctaccgaga acctgctgag cgggactggt gacccatggc tgggggtgct gaggagagcc
     1081 gagttggact ggctacccct cctggccacc cagtactccc tccagcctca gctggctgaa
     1141 cctcgccgct ccaaccacca gcttcctcag cgagcagggc ccagggctct gggcctgaag
     1201 caagagccag cccggctccc agtgtctgcc cggctcccag tgtctgccca gccctctccc
     1261 agacaggagc aggctgccac cccttctacc tcaccactgc ccctcgaaga attttgcaaa
     1321 tggccccttg ccccatttta agcaggagca ggtggctggt ttgaagcccc aggtatcccc
     1381 cttccctgct atgggaaagg ccaagctgct gggtggggac agaagctgca ggggagaggg
     1441 aagcagccgt gctgtcaaca tcatccggca ccctctgggg taggagaaca gccattccac
     1501 atgtgttccc tctatccgtc ctgcttcctg ggcagctggt ggtgctggga atggggtgcc
     1561 ccagccttgg tgaggacagt gttgggaggc ccaggggccc agtaaagtgc atttgacatt
     1621 gaa
//
