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    POLD3 DNA polymerase delta 3, accessory subunit [ Homo sapiens (human) ]

    Gene ID: 10714, updated on 27-Nov-2024

    Summary

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    Official Symbol
    POLD3provided by HGNC
    Official Full Name
    DNA polymerase delta 3, accessory subunitprovided by HGNC
    Primary source
    HGNC:HGNC:20932
    See related
    Ensembl:ENSG00000077514 MIM:611415; AllianceGenome:HGNC:20932
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    P66; P68; IMD122; PPP1R128
    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]
    Expression
    Ubiquitous expression in testis (RPKM 7.5), colon (RPKM 6.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See POLD3 in Genome Data Viewer
    Location:
    11q13.4
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (74592582..74669341)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (74521975..74598819)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (74303627..74354121)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902712 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:74249649-74250198 Neighboring gene uncharacterized LOC105369386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5253 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:74303289-74303922 Neighboring gene RAN pseudogene 3 Neighboring gene RN7SK pseudogene 297 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:74407669-74408868 Neighboring gene uncharacterized LOC124902713 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:74410705-74411205 Neighboring gene chordin like 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome. Riestra MR, et al. J Clin Immunol, 2023 Dec 15. PMID 38099988, Free PMC Article
    2. Multiple Forms of Human DNA Polymerase Delta Sub-Assembling in Cellular DNA Transactions. Zhang Q, et al. Curr Protein Pept Sci, 2016. PMID 26916162
    3. In vivo evidence for translesion synthesis by the replicative DNA polymerase δ. Hirota K, et al. Nucleic Acids Res, 2016 Sep 6. PMID 27185888, Free PMC Article
    4. Spatiotemporal recruitment of human DNA polymerase delta to sites of UV damage. Chea J, et al. Cell Cycle, 2012 Aug 1. PMID 22801543, Free PMC Article
    5. Phosphorylation of the C subunit (p66) of human DNA polymerase delta. Lemmens L, et al. Biochem Biophys Res Commun, 2008 Mar 7. PMID 18157942

    See all (104) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment.
      Title: POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment.
    2. Interaction of human HelQ with DNA polymerase delta halts DNA synthesis and stimulates DNA single-strand annealing.
      Title: Interaction of human HelQ with DNA polymerase delta halts DNA synthesis and stimulates DNA single-strand annealing.
    3. Interaction of CCND2, CDKN1A, and POLD3 Variants in Mexican Patients with Colorectal Cancer.
      Title: Interaction of CCND2, CDKN1A, and POLD3 Variants in Mexican Patients with Colorectal Cancer.
    4. Polymerase delta promotes chromosomal rearrangements and imprecise double-strand break repair.
      Title: Polymerase δ promotes chromosomal rearrangements and imprecise double-strand break repair.
    5. ROS-induced telomeric R-loops promote repair of telomeric DSBs through CSB-RAD52-POLD3-mediated BIR, a previously unknown pathway protecting telomeres from ROS. ROS-induced telomeric SSBs may not only give rise to DSBs indirectly, but also promote DSB repair by inducing R-loops, revealing an unexpected interplay between distinct ROS-induced DNA lesions.
      Title: An R-loop-initiated CSB-RAD52-POLD3 pathway suppresses ROS-induced telomeric DNA breaks.
    6. findings demonstrate a key role of POLD1 and POLD3 in genome stability and S-phase progression revealing RNA-DNA hybrids-dependent effects for POLD3 that might be partly due to its Pol zeta interaction.
      Title: Roles of human POLD1 and POLD3 in genome stability.
    7. The proofreading activity of DNA polymerase delta plays a role in shunting DNA mismatch repair to an EXO1-dependent excision pathway as opposed to directly participating in gap formation via its 3'-5' exonuclease activity.
      Title: Human DNA polymerase delta double-mutant D316A;E318A interferes with DNA mismatch repair in vitro.
    8. The mitotic DNA synthesis is RAD52 dependent, and RAD52 is required for the timely recruitment of MUS81 and POLD3 to common fragile sites in early mitosis.
      Title: RAD52 Facilitates Mitotic DNA Synthesis Following Replication Stress.
    9. data support Poldelta contributing to translesion synthesis in vivo and suggest that the mutagenesis resulting from loss of Poldelta proofreading activity may in part be explained by enhanced lesion bypass
      Title: In vivo evidence for translesion synthesis by the replicative DNA polymerase δ.
    10. Studies indicate that DNA polymerase delta 3 (Pol delta3) exhibits significant differences in properties with a major impact on cellular processes in genomic surveillance, DNA replication and DNA repair.
      Title: Multiple Forms of Human DNA Polymerase Delta Sub-Assembling in Cellular DNA Transactions.
    Submit: New GeneRIF Correction See all GeneRIFs (23)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0039, MGC119642, MGC119643

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to DNA-directed DNA polymerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-macromolecule adaptor activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in DNA strand elongation involved in DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA synthesis involved in DNA repair NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in DNA synthesis involved in UV-damage excision repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA-templated DNA replication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in error-prone translesion synthesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mismatch repair NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in nucleotide-excision repair, DNA gap filling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nucleotide-excision repair, DNA gap filling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of delta DNA polymerase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of delta DNA polymerase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of delta DNA polymerase complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    part_of zeta DNA polymerase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of zeta DNA polymerase complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    DNA polymerase delta subunit 3
    Names
    DNA polymerase delta subunit C
    DNA polymerase delta subunit p66
    DNA polymerase delta subunit p68
    Pol delta C subunit (p66)
    polymerase (DNA) delta 3, accessory subunit
    polymerase (DNA-directed), delta 3, accessory subunit
    protein phosphatase 1, regulatory subunit 128

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001363597.2 → NP_001350526.1  DNA polymerase delta subunit 3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AP001104, AP001324
      Consensus CDS
      CCDS86228.1
      UniProtKB/TrEMBL
      B7ZAQ5
      Related
      ENSP00000432951.1, ENST00000527458.5
      Conserved Domains (1) summary
      pfam09507
      Location:1 → 427
      CDC27; DNA polymerase subunit Cdc27

    2. NM_006591.3 → NP_006582.1  DNA polymerase delta subunit 3 isoform 1

      See identical proteins and their annotated locations for NP_006582.1

      Status: REVIEWED

      Source sequence(s)
      AK316301, AP001324, D26018, DC402448
      Consensus CDS
      CCDS8233.1
      UniProtKB/Swiss-Prot
      B7ZAI6, Q15054, Q32MZ9, Q32N00
      UniProtKB/TrEMBL
      B4DYZ7, B7ZAQ5
      Related
      ENSP00000263681.2, ENST00000263681.7
      Conserved Domains (1) summary
      pfam09507
      Location:19 → 466
      CDC27; DNA polymerase subunit Cdc27

    RNA

    1. NR_046409.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP001324, BC108908, DC402448

    2. NR_046410.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AK302677, AP001104, AP001324, BC108909

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      74592582..74669341
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273716.1 → XP_005273773.1  DNA polymerase delta subunit 3 isoform X2

      UniProtKB/TrEMBL
      B4DYZ7, B7ZAQ5
      Conserved Domains (1) summary
      pfam09507
      Location:19 → 400
      CDC27; DNA polymerase subunit Cdc27

    2. XM_011544734.4 → XP_011543036.1  DNA polymerase delta subunit 3 isoform X1

      UniProtKB/TrEMBL
      B7ZAQ5
      Conserved Domains (1) summary
      pfam09507
      Location:3 → 448
      CDC27; DNA polymerase subunit Cdc27

    3. XM_047426295.1 → XP_047282251.1  DNA polymerase delta subunit 3 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      74521975..74598819
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367516.1 → XP_054223491.1  DNA polymerase delta subunit 3 isoform X2

    2. XM_054367517.1 → XP_054223492.1  DNA polymerase delta subunit 3 isoform X3

    3. XM_054367515.1 → XP_054223490.1  DNA polymerase delta subunit 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15054.2 GenPept UniProtKB/Swiss-Prot:Q15054

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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