Pole
Gene Detail

Symbol Name ID

Pole polymerase (DNA directed), epsilon MGI:1196391

Synonyms

pol-epsilon

Feature Type

protein coding gene

Genetic Map

Chromosome 5

53.45 cM, cytoband E3-E5
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr5:110286306-110337474 bp, + strand From VEGA annotation of GRCm38   51169 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:4539  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: DNA-directed DNA polymerase II
Gene Tree: Pole

Human homologs

Human Homolog		POLE, polymerase (DNA directed), epsilon, catalytic subunit
NCBI Gene ID		5426
neXtProt AC		NX_Q07864
Human Synonyms		CRCS12, FILS, POLE1
Human Chr (Location)		12q24.3; chr12:132623762-132687524 (-)  GRCh38
Disease Associations		(2) Diseases Associated with Human POLE

Alleles and phenotypes

All alleles(14) : Gene trapped(12) Targeted(1) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF )
 

Mice homozygous for a knock-in allele exhibit increased incidence of tumors and premature death. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7.

 

Gene Ontology (GO) classifications

All GO classifications: (26 annotations)

Process	base-excision repair, gap-filling, cellular response to DNA damage stimulus, ...
Component	cytoplasm, epsilon DNA polymerase complex, ...
Function	4 iron, 4 sulfur cluster binding, chromatin binding, ...

External Resources: FuncBase

Expression

Literature Summary: (1 records)

Data Summary: Results (94)    Tissues (94)    Images (1)
Theiler Stages: 22

Assay Type	Results
RNA in situ	94

cDNA source data(169)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(174) Genomic(2) cDNA(171) Primer pair(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000026219 (Evidence)
Ensembl Gene Model	ENSMUSG00000007080 (Evidence)
Entrez Gene	18973 (Evidence)
UniGene	35061
DFCI	TC1574920, TC1591827
DoTS	DT.101184488, DT.101359998, DT.101379355, DT.488031, DT.97341089
NIA Mouse Gene Index	U005973
EC	2.7.7.7
Consensus CDS Project	CCDS19525.1
International Mouse Knockout Project Status	Pole

Sequences

Length	Strain/Species
genomic	OTTMUSG00000026219	VEGA Gene Model | MGI Sequence Detail	51169	C57BL/6J
transcript	OTTMUST00000064842	VEGA | MGI Sequence Detail	7163	Not Applicable
polypeptide	OTTMUSP00000032240	VEGA | MGI Sequence Detail	2283	Not Applicable

All sequences(82) RefSeq(4) UniProt(10)

Polymorphisms

PCR(1) : SNPs within 2kb(352 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
InterPro	IPR006172	DNA-directed DNA polymerase, family B
InterPro	IPR006133	DNA-directed DNA polymerase, family B, exonuclease domain
InterPro	IPR006134	DNA-directed DNA polymerase, family B, multifunctional domain
InterPro	IPR013697	DNA polymerase epsilon, catalytic subunit A, C-terminal
InterPro	IPR012337	Ribonuclease H-like domain
Protein Ontology	PR:000012969	DNA polymerase epsilon catalytic subunit A

References

(Earliest) J:44457 Kamel D, et al., Role of deoxyribonucleic acid polymerase epsilon in spermatogenesis in mice. Biol Reprod. 1997 Dec;57(6):1367-74
(Latest) J:153684 Albertson TM, et al., DNA polymerase epsilon and delta proofreading suppress discrete mutator and cancer phenotypes in mice. Proc Natl Acad Sci U S A. 2009 Oct 6;106(40):17101-4
All references(36)