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POLD4 DNA polymerase delta 4, accessory subunit [ Homo sapiens (human) ]

Gene ID: 57804, updated on 5-Mar-2024

Summary

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Official Symbol
POLD4provided by HGNC
Official Full Name
DNA polymerase delta 4, accessory subunitprovided by HGNC
Primary source
HGNC:HGNC:14106
See related
Ensembl:ENSG00000175482 MIM:611525; AllianceGenome:HGNC:14106
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
p12; POLDS
Summary
This gene encodes the smallest 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 enhances the activity of DNA polymerase delta and plays a role in fork repair and stabilization through interactions with the DNA helicase Bloom syndrome protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
Expression
Ubiquitous expression in lymph node (RPKM 33.7), small intestine (RPKM 29.8) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
11q13.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (67350765..67353596, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (67344877..67347708, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67118236..67121067, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67057124-67058048 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67058049-67058971 Neighboring gene ankyrin repeat domain 13D Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67070151-67070668 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67070669-67071188 Neighboring gene slingshot protein phosphatase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5085 Neighboring gene uncharacterized LOC100130987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3624 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67119697-67120279 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67120280-67120861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3625 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5089 Neighboring gene RN7SK pseudogene 239 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67134979-67135478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3626 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3627 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3628 Neighboring gene cardiotrophin like cytokine factor 1

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 DNA polymerase delta is a pentameric holoenzyme with a dimeric p12 subunit. Khandagale P, et al. Life Sci Alliance, 2019 Apr. PMID 30885984, Free PMC Article
  2. The tail that wags the dog: p12, the smallest subunit of DNA polymerase δ, is degraded by ubiquitin ligases in response to DNA damage and during cell cycle progression. Lee MY, et al. Cell Cycle, 2014. PMID 24300032, Free PMC Article
  3. Regulation of DNA polymerase POLD4 influences genomic instability in lung cancer. Huang QM, et al. Cancer Res, 2010 Nov 1. PMID 20861182
  4. Roles of POLD4, smallest subunit of DNA polymerase delta, in nuclear structures and genomic stability of human cells. Huang QM, et al. Biochem Biophys Res Commun, 2010 Jan 1. PMID 19931513
  5. A novel DNA damage response: rapid degradation of the p12 subunit of dna polymerase delta. Zhang S, et al. J Biol Chem, 2007 May 25. PMID 17317665

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. POLD4 Promotes Glioma Cell Proliferation and Suppressive Immune Microenvironment: A Pan-Cancer Analysis Integrated with Experimental Validation.
    Title: POLD4 Promotes Glioma Cell Proliferation and Suppressive Immune Microenvironment: A Pan-Cancer Analysis Integrated with Experimental Validation.
  2. Expression Profile, Molecular Association, and Clinical Significance of POLD4 in Glioblastoma.
    Title: Expression Profile, Molecular Association, and Clinical Significance of POLD4 in Glioblastoma.
  3. Circular RNA circ_0026359 Enhances Cisplatin Resistance in Gastric Cancer via Targeting miR-1200/POLD4 Pathway.
    Title: Circular RNA circ_0026359 Enhances Cisplatin Resistance in Gastric Cancer via Targeting miR-1200/POLD4 Pathway.
  4. The role in cellular processes (DNA replication, DNA repair, homologous recombination) and cell cycle regulation of 2 forms of human DNA polymerase delta: delta3 and delta4 was reviewed. (REVIEW)
    Title: Two forms of human DNA polymerase δ: Who does what and why?
  5. Human Poldelta is a pentameric complex with a dimeric p12 subunit. RKR-mediated dimerization plays a vital role in p12 binding to PCNA and Poldelta5 architecture, and the phenomenon appears to be conserved throughout evolution.
    Title: Human DNA polymerase delta is a pentameric holoenzyme with a dimeric p12 subunit.
  6. the p12/Pol delta is a target as a nuclear substrate of mu-calpain in a calcium-triggered apoptosis and appears to be a potential marker in the study of the chemotherapy of cancer therapies.
    Title: Proteolysis of the human DNA polymerase delta smallest subunit p12 by μ-calpain in calcium-triggered apoptotic HeLa cells.
  7. A parallel study of Pol delta4 and Pol delta3 in Okazaki fragment processing provides evidence for a role of Pol delta3 in DNA replication
    Title: The tail that wags the dog: p12, the smallest subunit of DNA polymerase δ, is degraded by ubiquitin ligases in response to DNA damage and during cell cycle progression.
  8. Findings provide evidence for the novel concept that Pol delta3 has a role in lagging strand synthesis, and that both forms of Pol delta3 and 4 may participate in DNA replication in higher eukaryotic cells.
    Title: Dynamics of enzymatic interactions during short flap human Okazaki fragment processing by two forms of human DNA polymerase δ.
  9. ubiquitination of p12 through CRL4(Cdt2) and subsequent degradation form one mechanism by which a cell responds to DNA damage to inhibit fork progression.
    Title: Degradation of p12 subunit by CRL4Cdt2 E3 ligase inhibits fork progression after DNA damage.
  10. Data indicate that CRL4(Cdt2) regulates the degradation of the p12 subunit of Pol delta4.
    Title: A novel function of CRL4(Cdt2): regulation of the subunit structure of DNA polymerase δ in response to DNA damage and during the S phase.
Submit: New GeneRIF Correction See all GeneRIFs (15)

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

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

Potential readthrough

Included gene: CLCF1

Homology

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 
Process Evidence Code Pubs
involved_in DNA synthesis involved in DNA repair IBA
Inferred from Biological aspect of Ancestor
more info
  
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 positive regulation of endothelial cell proliferation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of delta DNA polymerase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of delta DNA polymerase complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
DNA polymerase delta subunit 4
Names
DNA polymerase delta smallest subunit p12
polymerase (DNA) delta 4, accessory subunit
polymerase (DNA-directed), delta 4, accessory subunit

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_001256870.2 → NP_001243799.1  DNA polymerase delta subunit 4 isoform 2

    See identical proteins and their annotated locations for NP_001243799.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AP003419, BG403692, BG576821
    Consensus CDS
    CCDS58149.1
    UniProtKB/Swiss-Prot
    Q9HCU8
    Related
    ENSP00000444780.1, ENST00000539074.1

  2. NM_021173.5 → NP_066996.3  DNA polymerase delta subunit 4 isoform 1

    See identical proteins and their annotated locations for NP_066996.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AF179890, AP003419, BC070250
    Consensus CDS
    CCDS8158.1
    UniProtKB/Swiss-Prot
    F5H506, Q9HCU8
    UniProtKB/TrEMBL
    Q6NSD7
    Related
    ENSP00000311368.3, ENST00000312419.8
    Conserved Domains (1) summary
    pfam04081
    Location:50 → 94
    DNA_pol_delta_4; DNA polymerase delta, subunit 4

RNA

  1. NR_046411.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AP003419, BC001334, BG576821

  2. NR_046412.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AP003419, BG576821, BP263644

  3. NR_046413.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 5' region, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AP003419, BM697399
    Related
    ENST00000529704.5

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
    67350765..67353596 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    67344877..67347708 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HCU8.1 GenPept UniProtKB/Swiss-Prot:Q9HCU8

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