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POLD1 DNA polymerase delta 1, catalytic subunit [ Homo sapiens (human) ]

Gene ID: 5424, updated on 12-Apr-2026
Official Symbol
POLD1provided by HGNC
Official Full Name
DNA polymerase delta 1, catalytic subunitprovided by HGNC
Primary source
HGNC:HGNC:9175
See related
Ensembl:ENSG00000062822 MIM:174761; AllianceGenome:HGNC:9175
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
CDC2; MDPL; POLD; CRCS10; IMD120
Summary
This gene encodes the 125-kDa catalytic 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. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012]
Expression
Broad expression in bone marrow (RPKM 7.5), testis (RPKM 4.7) and 24 other tissues See more
Orthologs
all
Try the new Gene page
Try the new Transcripts and proteins table
See POLD1 in Genome Data Viewer
Location:
19q13.33
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (50384323..50418018)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (53471875..53505574)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50887580..50921275)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14984 Neighboring gene napsin A aspartic peptidase Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50879623-50880434 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10959 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10961 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50888337-50888838 Neighboring gene nuclear receptor subfamily 1 group H member 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50918101-50918885 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50918886-50919670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10966 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:50921334-50921502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14987 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50930914-50931487 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50931488-50932060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10968 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50935955-50936713 Neighboring gene Spi-B transcription factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50937528-50938028 Neighboring gene myosin binding protein C2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50954383-50954951

Go to nucleotide: Graphics FASTA GenBank

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Discovery of recessive effect of human polymerase delta proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells.
    Title: Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells.
  2. DNA polymerase epsilon and delta variants drive mutagenesis in polypurine tracts in human tumors.
    Title: DNA polymerase ε and δ variants drive mutagenesis in polypurine tracts in human tumors.
  3. Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases epsilon and delta in glioma families.
    Title: Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.
  4. POLD1 Is Required for Cell Cycle Progression by Overcoming DNA Damage in Malignant Pleural Mesothelioma.
    Title: POLD1 Is Required for Cell Cycle Progression by Overcoming DNA Damage in Malignant Pleural Mesothelioma.
  5. Race, Prevalence of POLE and POLD1 Alterations, and Survival Among Patients With Endometrial Cancer.
    Title: Race, Prevalence of POLE and POLD1 Alterations, and Survival Among Patients With Endometrial Cancer.
  6. DNA polymerase POLD1 promotes proliferation and metastasis of bladder cancer by stabilizing MYC.
    Title: DNA polymerase POLD1 promotes proliferation and metastasis of bladder cancer by stabilizing MYC.
  7. DNA Polymerase Delta Exhibits Altered Catalytic Properties on Lysine Acetylation.
    Title: DNA Polymerase Delta Exhibits Altered Catalytic Properties on Lysine Acetylation.
  8. Functional landscapes of POLE and POLD1 mutations in checkpoint blockade-dependent antitumor immunity.
    Title: Functional landscapes of POLE and POLD1 mutations in checkpoint blockade-dependent antitumor immunity.
  9. POLE/POLD1 mutation and tumor immunotherapy.
    Title: POLE/POLD1 mutation and tumor immunotherapy.
  10. Scrutinizing Deleterious Nonsynonymous SNPs and Their Effect on Human POLD1 Gene.
    Title: Scrutinizing Deleterious Nonsynonymous SNPs and Their Effect on Human POLD1 Gene.
Submit: New GeneRIF Correction See all GeneRIFs (83)

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
Colorectal cancer, susceptibility to, 10
MedGen: C2675481 OMIM: 612591 GeneReviews: Not available
not available
Immunodeficiency 120
MedGen: C5935622 OMIM: 620836 GeneReviews: Not available
not available
Mandibular hypoplasia-deafness-progeroid syndrome
MedGen: C3715192 OMIM: 615381 GeneReviews: Not available
not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-06-05)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2020-06-05)

ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 3'-5' exonuclease activity IEA
Inferred from Electronic Annotation
more info
  
enables 3'-5'-DNA exonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables DNA binding TAS
Traceable Author Statement
more info
 PubMed 
enables DNA polymerase activity IEA
Inferred from Electronic Annotation
more info
  
enables DNA-directed DNA polymerase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-directed DNA polymerase activity IEA
Inferred from Electronic Annotation
more info
  
enables DNA-directed DNA polymerase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables DNA-directed DNA polymerase activity TAS
Traceable Author Statement
more info
 PubMed 
enables chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables damaged DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables enzyme binding IEA
Inferred from Electronic Annotation
more info
  
enables nucleic acid binding IEA
Inferred from Electronic Annotation
more info
  
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding 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 repair TAS
Traceable Author Statement
more info
 PubMed 
involved_in DNA replication IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in DNA replication TAS
Traceable Author Statement
more info
 PubMed 
involved_in DNA replication proofreading IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in DNA synthesis involved in DNA repair IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in DNA synthesis involved in DNA repair IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in DNA-templated DNA replication 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 DNA-templated DNA replication IEA
Inferred from Electronic Annotation
more info
  
involved_in base-excision repair, gap-filling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in base-excision repair, gap-filling IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in error-free translesion synthesis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in fatty acid homeostasis IMP
Inferred from Mutant Phenotype
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 IC
Inferred by Curator
more info
 PubMed 
involved_in nucleotide-excision repair, DNA gap filling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to UV TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
colocalizes_with chromosome, telomeric region IDA
Inferred from Direct Assay
more info
 PubMed 
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
  
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
part_of nucleotide-excision repair complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
Preferred Names
DNA polymerase delta catalytic subunit
Names
3'-5' exodeoxyribonuclease
CDC2 homolog
DNA polymerase subunit delta p125
polymerase (DNA directed), delta 1, catalytic subunit 125kDa
polymerase (DNA) delta 1, catalytic subunit
NP_001243778.1
NP_001295561.1
NP_001425139.1
NP_001425140.1
NP_001425141.1
NP_001425142.1
NP_002682.2
XP_011525340.1
XP_047294903.1
XP_047294904.1
XP_047294905.1
XP_047294906.1
XP_054177208.1
XP_054177209.1
XP_054177211.1
XP_054177213.1
XP_054177214.1

NEW Try the new Transcript table

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.

Genomic

  1. NG_033800.1 RefSeqGene

    Range
    5001..38696
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_785

mRNA and Protein(s)

  1. NM_001256849.1 → NP_001243778.1  DNA polymerase delta catalytic subunit isoform 1

    See identical proteins and their annotated locations for NP_001243778.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) contains an alternate exon in the 5' UTR and uses an alternate splice site in the 3' coding region, compared to variant 4. The encoded isoform (1) is shorter than isoform 2.
    Source sequence(s)
    AA236879, BC008800, CD101690
    Consensus CDS
    CCDS12795.1
    UniProtKB/Swiss-Prot
    P28340, Q8NER3, Q96H98
    UniProtKB/TrEMBL
    Q308M6
    Related
    ENSP00000473052.1, ENST00000599857.7
    Conserved Domains (1) summary
    PTZ00166
    Location:81 → 1100
    PTZ00166; DNA polymerase delta catalytic subunit; Provisional

  2. NM_001308632.1 → NP_001295561.1  DNA polymerase delta catalytic subunit isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes the longer isoform (2).
    Source sequence(s)
    AC008655, AC020909, DQ234348
    Consensus CDS
    CCDS82381.1
    UniProtKB/TrEMBL
    M0R2B7, Q308M6
    Related
    ENSP00000472445.1, ENST00000595904.6
    Conserved Domains (4) summary
    cd05777
    Location:304 → 533
    DNA_polB_delta_exo; DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase delta, a family-B DNA polymerase
    cd05533
    Location:579 → 1000
    POLBc_delta; DNA polymerase type-B delta subfamily catalytic domain. Three DNA-dependent DNA polymerases type B (alpha, delta, and epsilon) have been identified as essential for nuclear DNA replication in eukaryotes. Presently, no direct data is available regarding ...
    PTZ00166
    Location:81 → 1126
    PTZ00166; DNA polymerase delta catalytic subunit; Provisional
    pfam14260
    Location:1038 → 1108
    zf-C4pol; C4-type zinc-finger of DNA polymerase delta

  3. NM_001438210.1 → NP_001425139.1  DNA polymerase delta catalytic subunit isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC008655, AC020909
    UniProtKB/TrEMBL
    A0A087WYJ2, A0A2R8Y705
    Related
    ENSP00000481858.2, ENST00000613923.6

  4. NM_001438211.1 → NP_001425140.1  DNA polymerase delta catalytic subunit isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC008655, AC020909
    UniProtKB/TrEMBL
    A0A087WYJ2, A0A2R8Y705
    Related
    ENSP00000539835.1, ENST00000869776.1

  5. NM_001438212.1 → NP_001425141.1  DNA polymerase delta catalytic subunit isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC008655, AC020909
    UniProtKB/Swiss-Prot
    P28340, Q8NER3, Q96H98
    UniProtKB/TrEMBL
    Q308M6
    Related
    ENSP00000605903.1, ENST00000935844.1

  6. NM_001438213.1 → NP_001425142.1  DNA polymerase delta catalytic subunit isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC008655, AC020909
    UniProtKB/Swiss-Prot
    P28340, Q8NER3, Q96H98
    UniProtKB/TrEMBL
    Q308M6
    Related
    ENSP00000472600.2, ENST00000601098.6

  7. NM_002691.4 → NP_002682.2  DNA polymerase delta catalytic subunit isoform 1

    See identical proteins and their annotated locations for NP_002682.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR and uses an alternate splice site in the 3' coding region, compared to variant 4. The encoded isoform (1) is shorter than isoform 2.
    Source sequence(s)
    AB209560, CD101690, M81735
    Consensus CDS
    CCDS12795.1
    UniProtKB/Swiss-Prot
    P28340, Q8NER3, Q96H98
    UniProtKB/TrEMBL
    Q308M6
    Related
    ENSP00000406046.1, ENST00000440232.7
    Conserved Domains (1) summary
    PTZ00166
    Location:81 → 1100
    PTZ00166; DNA polymerase delta catalytic subunit; Provisional

RNA

  1. NR_046402.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate first exon and lacks an internal exon in the 3' region, compared to variant 4. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 4, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA236879, AB209560, CD101690
    Related
    ENST00000600859.5

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

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    50384323..50418018
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047438947.1 → XP_047294903.1  DNA polymerase delta catalytic subunit isoform X1

    UniProtKB/Swiss-Prot
    P28340, Q8NER3, Q96H98
    UniProtKB/TrEMBL
    Q308M6
    Related
    ENSP00000605902.1, ENST00000935843.1

  2. XM_047438949.1 → XP_047294905.1  DNA polymerase delta catalytic subunit isoform X2

    UniProtKB/TrEMBL
    A0A087WYJ2, A0A2R8Y705

  3. XM_047438948.1 → XP_047294904.1  DNA polymerase delta catalytic subunit isoform X2

    UniProtKB/TrEMBL
    A0A087WYJ2, A0A2R8Y705
    Related
    ENSP00000605914.1, ENST00000935855.1

  4. XM_011527038.2 → XP_011525340.1  DNA polymerase delta catalytic subunit isoform X1

    See identical proteins and their annotated locations for XP_011525340.1

    UniProtKB/Swiss-Prot
    P28340, Q8NER3, Q96H98
    UniProtKB/TrEMBL
    Q308M6
    Related
    ENSP00000605918.1, ENST00000935859.1
    Conserved Domains (1) summary
    PTZ00166
    Location:81 → 1100
    PTZ00166; DNA polymerase delta catalytic subunit; Provisional

  5. XM_047438950.1 → XP_047294906.1  DNA polymerase delta catalytic subunit isoform X2

    UniProtKB/TrEMBL
    A0A087WYJ2, A0A2R8Y705
    Related
    ENSP00000639707.1, ENST00000969648.1

RNA

  1. XR_935835.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    53471875..53505574
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054321233.1 → XP_054177208.1  DNA polymerase delta catalytic subunit isoform X1

    UniProtKB/Swiss-Prot
    P28340, Q8NER3, Q96H98
    UniProtKB/TrEMBL
    Q308M6

  2. XM_054321238.1 → XP_054177213.1  DNA polymerase delta catalytic subunit isoform X2

    UniProtKB/TrEMBL
    A0A087WYJ2, A0A2R8Y705

  3. XM_054321236.1 → XP_054177211.1  DNA polymerase delta catalytic subunit isoform X2

    UniProtKB/TrEMBL
    A0A087WYJ2, A0A2R8Y705

  4. XM_054321234.1 → XP_054177209.1  DNA polymerase delta catalytic subunit isoform X1

    UniProtKB/Swiss-Prot
    P28340, Q8NER3, Q96H98
    UniProtKB/TrEMBL
    Q308M6

  5. XM_054321239.1 → XP_054177214.1  DNA polymerase delta catalytic subunit isoform X2

    UniProtKB/TrEMBL
    A0A087WYJ2, A0A2R8Y705

RNA

  1. XR_008485165.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P28340.2 GenPept UniProtKB/Swiss-Prot:P28340

Gene LinkOut

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