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

Gene ID: 10714, updated on 3-Apr-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; 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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (74592582..74669341)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (74521975..74598819)
105.20220307 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. POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment. Mehawej C, et al. Clin Immunol, 2023 Jun. PMID 37030525
  2. 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
  3. Multiple Forms of Human DNA Polymerase Delta Sub-Assembling in Cellular DNA Transactions. Zhang Q, et al. Curr Protein Pept Sci, 2016. PMID 26916162
  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 (97) 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)

Genotypes

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 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_2023_10

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

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