LOCUS       NM_006591               3788 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens DNA polymerase delta 3, accessory subunit (POLD3),
            transcript variant 1, mRNA.
ACCESSION   NM_006591 XM_166243
VERSION     NM_006591.3
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 3788)
  AUTHORS   Krishnamoorthy,V., Foglizzo,M., Dilley,R.L., Wu,A., Datta,A.,
            Dutta,P., Campbell,L.J., Degtjarik,O., Musgrove,L.J.,
            Calabrese,A.N., Zeqiraj,E. and Greenberg,R.A.
  TITLE     The SPATA5-SPATA5L1 ATPase complex directs replisome proteostasis
            to ensure genome integrity
  JOURNAL   Cell 187 (9), 2250-2268 (2024)
   PUBMED   38554706
REFERENCE   2  (bases 1 to 3788)
  AUTHORS   Riestra,M.R., Pillay,B.A., Willemsen,M., Kienapfel,V., Ehlers,L.,
            Delafontaine,S., Pinton,A., Wouters,M., Hombrouck,A., Sauer,K.,
            Bossuyt,X., Voet,A., Soenen,S.J., Conde,C.D., Bucciol,G.,
            Boztug,K., Humblet-Baron,S., Touzart,A., Rieux-Laucat,F.,
            Notarangelo,L.D., Moens,L. and Meyts,I.
  TITLE     Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency
            Presenting as Omenn Syndrome
  JOURNAL   J Clin Immunol 44 (1), 2 (2023)
   PUBMED   38099988
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3788)
  AUTHORS   Mehawej,C., Chouery,E., Azar-Atallah,S., Shebaby,W., Delague,V.,
            Mansour,I., Mustapha,M., Lefranc,G. and Megarbane,A.
  TITLE     POLD3 deficiency is associated with severe combined
            immunodeficiency, neurodevelopmental delay, and hearing impairment
  JOURNAL   Clin Immunol 251, 109326 (2023)
   PUBMED   37030525
  REMARK    GeneRIF: POLD3 deficiency is associated with severe combined
            immunodeficiency, neurodevelopmental delay, and hearing impairment.
REFERENCE   4  (bases 1 to 3788)
  AUTHORS   He,L., Lever,R., Cubbon,A., Tehseen,M., Jenkins,T.,
            Nottingham,A.O., Horton,A., Betts,H., Fisher,M., Hamdan,S.M.,
            Soultanas,P. and Bolt,E.L.
  TITLE     Interaction of human HelQ with DNA polymerase delta halts DNA
            synthesis and stimulates DNA single-strand annealing
  JOURNAL   Nucleic Acids Res 51 (4), 1740-1749 (2023)
   PUBMED   36718939
  REMARK    GeneRIF: Interaction of human HelQ with DNA polymerase delta halts
            DNA synthesis and stimulates DNA single-strand annealing.
REFERENCE   5  (bases 1 to 3788)
  AUTHORS   Alvizo-Rodriguez,C.R., Flores-Lopez,B.A., Ayala-Madrigal,M.L.,
            Partida-Perez,M., Macias-Gomez,N.M., Peregrina-Sandoval,J.,
            Suarez-Villanueva,A.S., Moreno-Ortiz,J.M., Cervantes-Ortiz,S.,
            Maciel-Gutierre,V.M. and Gutierrez-Angulo,M.
  TITLE     Interaction of CCND2, CDKN1A, and POLD3 Variants in Mexican
            Patients with Colorectal Cancer
  JOURNAL   Turk J Gastroenterol 33 (6), 525-531 (2022)
   PUBMED   35786622
  REMARK    GeneRIF: Interaction of CCND2, CDKN1A, and POLD3 Variants in
            Mexican Patients with Colorectal Cancer.
REFERENCE   6  (bases 1 to 3788)
  AUTHORS   Matsumoto,Y., Kim,K., Hurwitz,J., Gary,R., Levin,D.S.,
            Tomkinson,A.E. and Park,M.S.
  TITLE     Reconstitution of proliferating cell nuclear antigen-dependent
            repair of apurinic/apyrimidinic sites with purified human proteins
  JOURNAL   J Biol Chem 274 (47), 33703-33708 (1999)
   PUBMED   10559261
REFERENCE   7  (bases 1 to 3788)
  AUTHORS   Hughes,P., Tratner,I., Ducoux,M., Piard,K. and Baldacci,G.
  TITLE     Isolation and identification of the third subunit of mammalian DNA
            polymerase delta by PCNA-affinity chromatography of mouse FM3A cell
            extracts
  JOURNAL   Nucleic Acids Res 27 (10), 2108-2114 (1999)
   PUBMED   10219083
REFERENCE   8  (bases 1 to 3788)
  AUTHORS   Longley,M.J., Pierce,A.J. and Modrich,P.
  TITLE     DNA polymerase delta is required for human mismatch repair in vitro
  JOURNAL   J Biol Chem 272 (16), 10917-10921 (1997)
   PUBMED   9099749
REFERENCE   9  (bases 1 to 3788)
  AUTHORS   Wood,R.D. and Shivji,M.K.
  TITLE     Which DNA polymerases are used for DNA-repair in eukaryotes?
  JOURNAL   Carcinogenesis 18 (4), 605-610 (1997)
   PUBMED   9111189
  REMARK    Review article
REFERENCE   10 (bases 1 to 3788)
  AUTHORS   Zeng,X.R., Jiang,Y., Zhang,S.J., Hao,H. and Lee,M.Y.
  TITLE     DNA polymerase delta is involved in the cellular response to UV
            damage in human cells
  JOURNAL   J Biol Chem 269 (19), 13748-13751 (1994)
   PUBMED   7910606
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC402448.1, AK316301.1,
            D26018.1 and AP001324.4.
            
            On May 17, 2019 this sequence version replaced NM_006591.2.
            
            Summary: This gene encodes the 66-kDa subunit of DNA polymerase
            delta. DNA polymerase delta possesses both polymerase and 3' to 5'
            exonuclease activity and plays a critical role in DNA replication
            and repair. The encoded protein plays a role in regulating the
            activity of DNA polymerase delta through interactions with other
            subunits and the processivity cofactor proliferating cell nuclear
            antigen (PCNA). Alternatively spliced transcript variants have been
            observed for this gene. [provided by RefSeq, Mar 2012].
            
            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 :: D26018.1, SRR1803615.232454.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263681.7/ ENSP00000263681.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                DC402448.1         53-74
            23-1662             AK316301.1         1-1640
            1663-3037           D26018.1           1661-3035
            3038-3788           AP001324.4         21458-22208
FEATURES             Location/Qualifiers
     source          1..3788
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     gene            1..3788
                     /gene="POLD3"
                     /gene_synonym="IMD122; P66; P68; PPP1R128"
                     /note="DNA polymerase delta 3, accessory subunit"
                     /db_xref="GeneID:10714"
                     /db_xref="HGNC:HGNC:20932"
                     /db_xref="MIM:611415"
     exon            1..137
                     /gene="POLD3"
                     /gene_synonym="IMD122; P66; P68; PPP1R128"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..1478
                     /gene="POLD3"
                     /gene_synonym="IMD122; P66; P68; PPP1R128"
                     /note="isoform 1 is encoded by transcript variant 1; DNA
                     polymerase delta subunit p66; polymerase (DNA-directed),
                     delta 3, accessory subunit; Pol delta C subunit (p66);
                     protein phosphatase 1, regulatory subunit 128; polymerase
                     (DNA) delta 3, accessory subunit; DNA polymerase delta
                     subunit C; DNA polymerase delta subunit p68"
                     /codon_start=1
                     /product="DNA polymerase delta subunit 3 isoform 1"
                     /protein_id="NP_006582.1"
                     /db_xref="CCDS:CCDS8233.1"
                     /db_xref="GeneID:10714"
                     /db_xref="HGNC:HGNC:20932"
                     /db_xref="MIM:611415"
                     /translation="MADQLYLENIDEFVTDQNKIVTYKWLSYTLGVHVNQAKQMLYDY
                     VERKRKENSGAQLHVTYLVSGSLIQNGHSCHKVAVVREDKLEAVKSKLAVTASIHVYS
                     IQKAMLKDSGPLFNTDYDILKSNLQNCSKFSAIQCAAAVPRAPAESSSSSKKFEQSHL
                     HMSSETQANNELTTNGHGPPASKQVSQQPKGIMGMFASKAAAKTQETNKETKTEAKEV
                     TNASAAGNKAPGKGNMMSNFFGKAAMNKFKVNLDSEQAVKEEKIVEQPTVSVTEPKLA
                     TPAGLKKSSKKAEPVKVLQKEKKRGKRVALSDDETKETENMRKKRRRIKLPESDSSED
                     EVFPDSPGAYEAESPSPPPPPSPPLEPVPKTEPEPPSVKSSSGENKRKRKRVLKSKTY
                     LDGEGCIVTEKVYESESCTDSEEELNMKTSSVHRPPAMTVKKEPREERKGPKKGTAAL
                     GKANRQVSITGFFQRK"
     exon            138..193
                     /gene="POLD3"
                     /gene_synonym="IMD122; P66; P68; PPP1R128"
                     /inference="alignment:Splign:2.1.0"
     exon            194..296
                     /gene="POLD3"
                     /gene_synonym="IMD122; P66; P68; PPP1R128"
                     /inference="alignment:Splign:2.1.0"
     exon            297..336
                     /gene="POLD3"
                     /gene_synonym="IMD122; P66; P68; PPP1R128"
                     /inference="alignment:Splign:2.1.0"
     exon            337..469
                     /gene="POLD3"
                     /gene_synonym="IMD122; P66; P68; PPP1R128"
                     /inference="alignment:Splign:2.1.0"
     exon            470..737
                     /gene="POLD3"
                     /gene_synonym="IMD122; P66; P68; PPP1R128"
                     /inference="alignment:Splign:2.1.0"
     exon            738..810
                     /gene="POLD3"
                     /gene_synonym="IMD122; P66; P68; PPP1R128"
                     /inference="alignment:Splign:2.1.0"
     exon            811..976
                     /gene="POLD3"
                     /gene_synonym="IMD122; P66; P68; PPP1R128"
                     /inference="alignment:Splign:2.1.0"
     exon            977..1083
                     /gene="POLD3"
                     /gene_synonym="IMD122; P66; P68; PPP1R128"
                     /inference="alignment:Splign:2.1.0"
     exon            1084..1196
                     /gene="POLD3"
                     /gene_synonym="IMD122; P66; P68; PPP1R128"
                     /inference="alignment:Splign:2.1.0"
     exon            1197..1275
                     /gene="POLD3"
                     /gene_synonym="IMD122; P66; P68; PPP1R128"
                     /inference="alignment:Splign:2.1.0"
     exon            1276..3788
                     /gene="POLD3"
                     /gene_synonym="IMD122; P66; P68; PPP1R128"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3411..3416
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POLD3"
                     /gene_synonym="IMD122; P66; P68; PPP1R128"
                     /note="hexamer: AATAAA"
     polyA_site      3448
                     /gene="POLD3"
                     /gene_synonym="IMD122; P66; P68; PPP1R128"
                     /note="major polyA site"
     regulatory      3749..3754
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POLD3"
                     /gene_synonym="IMD122; P66; P68; PPP1R128"
                     /note="hexamer: AATAAA"
     regulatory      3755..3760
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POLD3"
                     /gene_synonym="IMD122; P66; P68; PPP1R128"
                     /note="hexamer: ACTAAA"
     polyA_site      3769
                     /gene="POLD3"
                     /gene_synonym="IMD122; P66; P68; PPP1R128"
     polyA_site      3788
                     /gene="POLD3"
                     /gene_synonym="IMD122; P66; P68; PPP1R128"
ORIGIN      
        1 aaagacgttt cccgccggcg ggagctgtgg ctgtgattga gagaggggtt agaggcgggt
       61 cccagcgctg ccgcaccatg gcggaccagc tttatctgga aaatatagac gagttcgtca
      121 cggaccaaaa caagatcgtg acatacaaat ggctgagcta tacactaggg gttcatgtta
      181 accaggccaa acagatgctg tatgattatg ttgaaaggaa acgaaaagaa aattcaggag
      241 cccaactgca tgttacctac ttggtgtctg gcagtctcat tcagaatgga cattcctgcc
      301 acaaggttgc agtagtgaga gaagataaat tggaagcagt gaagtccaag ctagctgtga
      361 ctgccagcat ccatgtgtac agcatccaga aagccatgct aaaggacagt gggcctctgt
      421 tcaatactga ctatgacatc cttaaaagca acttgcagaa ctgcagcaaa tttagtgcta
      481 tacaatgtgc agctgccgtc cctagagctc ctgctgaatc ctcttcgtct tccaaaaagt
      541 ttgagcagtc acatcttcac atgtcaagtg agacacaagc caacaatgag ctgaccacca
      601 atggtcatgg cccacctgca tccaagcagg tttcccagca gcccaaagga attatgggaa
      661 tgtttgcctc caaagctgct gctaaaaccc aagaaaccaa caaggaaacg aaaacagagg
      721 ctaaagaagt aacaaatgca tctgcagcag gcaacaaggc accagggaaa gggaatatga
      781 tgagcaactt ttttggaaaa gctgctatga ataaatttaa agtcaatttg gactcagaac
      841 aagcagtgaa agaagaaaaa atagtggagc agcctacagt gtctgtcacg gaaccaaagc
      901 tggcaactcc tgcaggcctg aaaaaatcca gcaaaaaagc agagcctgtt aaggtgctgc
      961 agaaggaaaa aaaaaggggg aagcgagtag cattatctga tgatgagaca aaggaaactg
     1021 aaaacatgag gaaaaagagg agaagaatca aacttcctga atctgatagc agtgaagatg
     1081 aagtctttcc agactctcct ggggcttatg aagctgagtc accatcccca cctcctcctc
     1141 cgtctccacc tcttgaacca gtgccaaaga ctgagcctga acctccttct gtcaagagct
     1201 caagtggaga aaacaaaaga aaacgaaaac gcgtactaaa atctaaaact tacctggatg
     1261 gggaaggctg catagtgact gaaaaagtct acgagagtga atcctgcaca gatagtgaag
     1321 aggagcttaa catgaagaca tcctcagtac acagaccccc tgccatgact gtgaaaaaag
     1381 aacccagaga ggaacgaaag ggccccaaga aagggactgc tgctctgggc aaagccaaca
     1441 gacaggtgtc cattactggc ttcttccaga ggaaataaac tgccatctct ggtagatcag
     1501 agacttggag tggtcaaggg agaagaccaa gaaatgtact cctcacttac tatgtaagtt
     1561 catctagatc tccacctcac ctgtatcaaa agactgttct ttcatcctgt gaggtttata
     1621 ctatttctgg tttttaacca aaaggaaatc atctggaagc aggaggcaaa aagctgttac
     1681 cttctaatga catttaaaaa gcacagtctt tgacctgtcc aggagaagga tttactccaa
     1741 aattatactg gaacagtttt cagaattctc actgaagcca tttagtggct aacccactgt
     1801 gctccactca ccctatgccc tggtccgcat atggcacagg aattattcct tcttgttcct
     1861 ctgtattcta agaattcatg tgggtgtttc ttatccttac attctgctgg atacgtttac
     1921 ccctcttgtc ttcctgcagt accacacttc tgtcccctaa cctcctgagg ctgttctctg
     1981 taagtctttt aagttttggt tggactaaag gctgaagtga aaatctccct gtaatcctct
     2041 tcctccatta tgcagtacac ggacacctgg ctacagacca ggacgtggct tgtgttctgt
     2101 tcctttcaca aaagctctct gggaccttca cttgcaatta gtggttaggg aaaagcctca
     2161 ggcagaacac aaatagaaat ttaatgatgt gttcaactcc accagaaatt acctcgagtc
     2221 agcattgacg atattggagg agctgccgtg ctgctgatac ggggtgtgct ttatgctgct
     2281 ctttgcggtt tgttgatccc ctcctccccc actctcaata cctagagagt gaaacccgta
     2341 caatgagata aagactaaaa agagaaatcc cttcctatat acagtgtgct acatttacaa
     2401 aaaatttctc cttaagaaaa cagaatattc aaaaacagca cttttccagg aagttagtga
     2461 ggaagataag gcacacattt atttataaat ggatgttgct cctttgtatt tttagcttcc
     2521 ctatttgctt aaaagtacag gctccctaag agaggatgga gagggagaga ctgaattgtt
     2581 agtaggtcta aacatcaaag aaaacatttt tattagttac ttatggaaaa tcatctatta
     2641 caatgataac cttcaagtga cttccattat ggctggacag gcggtgagct cagtggattg
     2701 cagtggtgtg ctggtgattt tgcacagtga gctctgcgga aggggtcagg ctcaactgct
     2761 gatgtgtctc acacgtagca gacaaggggt gtctgactgg cttcttttgc ctcaagatgg
     2821 tgtatgtcgt aagtgatgca atcagctgtc tgctttttaa ggttgggatt gtgctgactt
     2881 tgggattaac atgagcttct ttagcaacca agcatgaact tgattaagac cagaagtttg
     2941 ggagatgagt cctggcatta tgtctaggac taaagcagtg gctttgtata gcaagctgag
     3001 taaaggttga catattccaa aacccttctt tttaaaagga aaaaggatgg agagaaggat
     3061 ggaaagcctg gacttaaacc tttagaaaaa acttctggag agaaatccct tttaaacagt
     3121 tacttttgtc attgcctctg gtcatttgtc taaataggaa tggaaaatta aaagaaaagc
     3181 aacaatccaa tcttttttct aaaaattatg ctggggtctc gactaaaact gaatttgaat
     3241 tggaaaattc tggtgttggt tggagttcca tcttgcaagg gataatacaa atcctatgat
     3301 ctctatgccc aatatgctgc ctcaactctg agctgtctgc aaggcttagt aagtattgag
     3361 tggtgttttt tttttctttt tatacaatac catgttaacc acatgagtta aataaatttg
     3421 agaagttgtt ttaaaacagt gcttcaaact gagtatctga tgagtctctt atttgatgga
     3481 tggtaacagt gttgcaatta tttaagctct gaatgggaag aaggctggtt ttcagttgat
     3541 attgttaaaa ctgcataccc acagtctgag atgaacaagt tatttgctgc cttcatcgtt
     3601 tttttcagca ctggggaaat gttagtttca gccaacctca ttttttagtt catctagaag
     3661 aaaatctagc acattgtatt agtttggctt catcacttgc tagctgtatg actgtgggca
     3721 agtttcacag cctcaagttc tttatcaaaa taaaactaaa atgagttacc aagggtgtca
     3781 agactaaa
//
