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

Summary

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

Location:: 11q13.4

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2025_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (74592582..74669341)
RS_2025_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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Polymerase delta promotes chromosomal rearrangements and imprecise double-strand break repair.
Title: Polymerase δ promotes chromosomal rearrangements and imprecise double-strand break repair.
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.
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.
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.
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.
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.
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

Associated conditions

Description	Tests
Immunodeficiency 122 MedGen: C5935632 OMIM: 620869 GeneReviews: Not available	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH121316 (e-PCR)
- UniSTS:135685

D11S4332 (e-PCR)
- UniSTS:22048

RH12784 (e-PCR)
- UniSTS:14892

POLD3_3528 (e-PCR)
- UniSTS:462423

NoName (e-PCR)
- UniSTS:483933

STS-D26018 (e-PCR)
- UniSTS:73879

SHGC-63006 (e-PCR)
- UniSTS:95388

RH25276 (e-PCR)
- UniSTS:80319

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	IEA Inferred from Electronic Annotation more info
involved_in DNA biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA damage response	IEA Inferred from Electronic Annotation more info
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in DNA replication	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
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
located_in nucleus	IEA Inferred from Electronic Annotation 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)

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
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

NR_046409.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AP001324, BC108908, DC402448
NR_046410.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AK302677, AP001104, AP001324, BC108909

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

74592582..74669341

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q569I8

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

74521975..74598819

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B4DYZ7, B7ZAQ5
XM_054367517.1 → XP_054223492.1 DNA polymerase delta subunit 3 isoform X3

UniProtKB/TrEMBL

Q569I8
XM_054367515.1 → XP_054223490.1 DNA polymerase delta subunit 3 isoform X1

UniProtKB/TrEMBL

B7ZAQ5