Pole polymerase (DNA directed), epsilon [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Poleprovided by MGI
Official Full Name: polymerase (DNA directed), epsilonprovided by MGI
Primary source: MGI:MGI:1196391
See related: Ensembl:ENSMUSG00000007080 AllianceGenome:MGI:1196391
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
Summary: Predicted to enable DNA binding activity; catalytic activity, acting on DNA; and chromatin binding activity. Predicted to be involved in DNA repair; G1/S transition of mitotic cell cycle; and leading strand elongation. Predicted to be located in nucleoplasm and plasma membrane. Predicted to be part of epsilon DNA polymerase complex. Is expressed in nervous system. Human ortholog(s) of this gene implicated in colorectal cancer (multiple); endometrial cancer (multiple); lung cancer (multiple); and mismatch repair cancer syndrome. Orthologous to human POLE (DNA polymerase epsilon, catalytic subunit). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in CNS E11.5 (RPKM 7.9), limb E14.5 (RPKM 6.6) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 53.45 cM

Exon count:: 49

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (110434185..110485319)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (110286319..110337468)

Chromosome 5 - NC_000071.7 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: 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?

A PoleP286R mouse model of endometrial cancer recapitulates high mutational burden and immunotherapy response.
Title: A PoleP286R mouse model of endometrial cancer recapitulates high mutational burden and immunotherapy response.
We engineered a conditional PoleP286R allele. PoleP286R/+ embryonic fibroblasts exhibited a striking mutator phenotype and immortalized more efficiently. PoleP286R/+ mice were born at Mendelian ratios but rapidly developed lethal cancers of diverse lineages, yielding the most cancer-prone monoallelic model described to date, to our knowledge.
Title: Polymerase-mediated ultramutagenesis in mice produces diverse cancers with high mutational load.
Loss of DNA Polymerase epsilon is associated with embryonic lethality and extensive developmental abnormalities, leukopenia, and tumor predisposition.
Title: Polε Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis.
A missense mutation in Rev7 disrupts formation of Polzeta, impairing mouse development and repair of genotoxic agent-induced DNA lesions.
Title: A missense mutation in Rev7 disrupts formation of Polζ, impairing mouse development and repair of genotoxic agent-induced DNA lesions.
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.

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Variation

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Alleles

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

Endonuclease-mediated (2) 1 citation
Gene trapped (1)
Targeted (2) 1 citation
Transgenic (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Pole (e-PCR), detects polymorphism
- UniSTS:144235

16.MMHAP23FLF1.seq (e-PCR)
- UniSTS:159413

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 4 iron, 4 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables DNA 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	IEA Inferred from Electronic Annotation more info
enables chromatin binding	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables single-stranded DNA 3'-5' DNA exonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
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
involved_in DNA synthesis involved in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in DNA synthesis involved in DNA repair	ISO Inferred from Sequence Orthology more info
involved_in DNA-templated DNA replication	ISO Inferred from Sequence Orthology more info
involved_in G1/S transition of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in G1/S transition of mitotic cell cycle	ISO Inferred from Sequence Orthology 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	IEA Inferred from Electronic Annotation more info
involved_in base-excision repair, gap-filling	ISO Inferred from Sequence Orthology more info
involved_in embryonic organ development	IEA Inferred from Electronic Annotation more info
involved_in leading strand elongation	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor 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
part_of epsilon DNA polymerase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of epsilon DNA polymerase complex	ISO Inferred from Sequence Orthology more info
part_of epsilon DNA polymerase complex	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: DNA polymerase epsilon catalytic subunit A

Names: 3'-5' exodeoxyribonuclease; DNA polymerase II subunit A; DNA-directed DNA polymerase epsilon; pol-epsilon

NP_035262.2

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_011132.2 → NP_035262.2 DNA polymerase epsilon catalytic subunit A

See identical proteins and their annotated locations for NP_035262.2

Status: VALIDATED

Source sequence(s)

AK141674, BC048166, CJ101052

Consensus CDS

CCDS19525.1

UniProtKB/Swiss-Prot

E9QKW1, Q9QX50, Q9WVF7

UniProtKB/TrEMBL

Q80XH7

Related

ENSMUSP00000007296.6, ENSMUST00000007296.12

Conserved Domains (5) summary

cd05779
Location:268 → 471

DNA_polB_epsilon_exo; DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase epsilon, a family-B DNA polymerase

cd05535
Location:531 → 1153

POLBc_epsilon; DNA polymerase type-B epsilon 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. DNA polymerase (Pol) epsilon has been proposed ...

COG0417
Location:99 → 1165

PolB; DNA polymerase elongation subunit (family B) [Replication, recombination and repair]

pfam08490
Location:1528 → 1924

DUF1744; Domain of unknown function (DUF1744)

cl00013
Location:125 → 231

Lyase_I_like; Lyase class I_like superfamily: contains the lyase class I family, histidine ammonia-lyase and phenylalanine ammonia-lyase, which catalyze similar beta-elimination reactions