Pold1 polymerase (DNA directed), delta 1, catalytic subunit [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pold1provided by MGI
Official Full Name: polymerase (DNA directed), delta 1, catalytic subunitprovided by MGI
Primary source: MGI:MGI:97741
See related: Ensembl:ENSMUSG00000038644 AllianceGenome:MGI:97741
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 125kDa
Summary: Enables 3'-5' exonuclease activity and enzyme binding activity. Involved in DNA biosynthetic process. Acts upstream of or within DNA replication proofreading and base-excision repair, gap-filling. Part of delta DNA polymerase complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Orthologous to human POLD1 (DNA polymerase delta 1, catalytic subunit). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in thymus adult (RPKM 45.8), spleen adult (RPKM 30.6) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B3; 7 28.83 cM

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (44182168..44198239, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (44532744..44548815, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

reducing expression of individual PRMT7 target DNA repair genes showed that only the catalytic subunit of DNA polymerase, POLD1, was able to resensitize PRMT7 knock-down cells to DNA-damaging agents.
Title: Protein arginine methyltransferase 7 regulates cellular response to DNA damage by methylating promoter histones H2A and H4 of the polymerase δ catalytic subunit gene, POLD1.
Findings distinguish Pol epsilon and delta functions in vivo and reveal tissue-specific requirements for DNA replication fidelity.
Title: DNA polymerase epsilon and delta proofreading suppress discrete mutator and cancer phenotypes in mice.
DNA polymerase delta is essential for mammalian early embryogenesis, and the 3'-5' exonuclease activity of DNA polymerase delta is dispensable for normal development but necessary to suppress tumorigenesis
Title: DNA polymerase delta is required for early mammalian embryogenesis.
Heterozygous mutation at L604 in the polymerase active site of DNA polymerase delta reduces life span, increases genomic instability, and accelerates tumorigenesis in an allele-specific manner, novel findings that have implications for human cancer.
Title: Mutation at the polymerase active site of mouse DNA polymerase delta increases genomic instability and accelerates tumorigenesis.
A point mutation (D400A) in the proofreading domain of DNA polymerase delta, encoded by the Pold1 gene, inactivates the 3' --> 5' exonuclease of poldelta and causes a mutator and epithelial cancer phenotype in a recessive manner.
Title: High incidence of epithelial cancers in mice deficient for DNA polymerase delta proofreading.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (5)
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Pold1 (e-PCR), detects polymorphism
- UniSTS:507165

Pold1 (e-PCR), detects polymorphism
- UniSTS:144234

AI194859 (e-PCR)
- UniSTS:185708

AJ132602 (e-PCR)
- UniSTS:185710

AA891955 (e-PCR)
- UniSTS:250032

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 3'-5' exonuclease activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables 3'-5'-DNA exonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables 4 iron, 4 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables DNA binding	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
enables chromatin binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	ISS Inferred from Sequence or Structural Similarity more info
enables damaged DNA binding	ISO Inferred from Sequence Orthology more info
enables damaged DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in DNA replication	ISO Inferred from Sequence Orthology more info
involved_in DNA replication proofreading	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within DNA replication proofreading	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA synthesis involved in DNA repair	ISO Inferred from Sequence Orthology more info
involved_in DNA synthesis involved in DNA repair	ISS Inferred from Sequence or Structural Similarity more info
involved_in DNA-templated DNA replication	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA-templated DNA replication	ISO Inferred from Sequence Orthology more info
involved_in base-excision repair, gap-filling	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within base-excision repair, gap-filling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in base-excision repair, gap-filling	ISO Inferred from Sequence Orthology more info
involved_in cellular response to UV	ISO Inferred from Sequence Orthology more info
involved_in cellular response to UV	ISS Inferred from Sequence or Structural Similarity more info
involved_in error-free translesion synthesis	ISO Inferred from Sequence Orthology more info
involved_in error-free translesion synthesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in fatty acid homeostasis	ISO Inferred from Sequence Orthology more info
involved_in fatty acid homeostasis	ISS Inferred from Sequence or Structural Similarity more info
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	IEA Inferred from Electronic Annotation more info
involved_in nucleotide-excision repair, DNA gap filling	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in aggresome	IEA Inferred from Electronic Annotation more info
located_in aggresome	ISO Inferred from Sequence Orthology more info
located_in chromosome, telomeric region	IEA Inferred from Electronic Annotation more info
colocalizes_with chromosome, telomeric region	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
part_of nucleotide-excision repair complex	IEA Inferred from Electronic Annotation more info
part_of nucleotide-excision repair complex	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: DNA polymerase delta catalytic subunit

Names: 3'-5' exodeoxyribonuclease; DNA polymerase delta 1, catalytic domain

NP_035261.3

EC 2.7.7.7

XP_030098080.1

EC 2.7.7.7

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_011131.3 → NP_035261.3 DNA polymerase delta catalytic subunit

See identical proteins and their annotated locations for NP_035261.3

Status: VALIDATED

Source sequence(s)

AK167569, BX634546, CJ173955

Consensus CDS

CCDS21210.1

UniProtKB/Swiss-Prot

O54883, P52431, Q3TFX6

UniProtKB/TrEMBL

Q91VT0

Related

ENSMUSP00000039776.9, ENSMUST00000049343.15

Conserved Domains (1) summary

PTZ00166
Location:78 → 1098

PTZ00166; DNA polymerase delta catalytic subunit; Provisional

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

44182168..44198239 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030242220.2 → XP_030098080.1 DNA polymerase delta catalytic subunit isoform X1

UniProtKB/Swiss-Prot

O54883, P52431, Q3TFX6

UniProtKB/TrEMBL

Q91VT0

Conserved Domains (1) summary

PTZ00166
Location:78 → 1098

PTZ00166; DNA polymerase delta catalytic subunit; Provisional