POLE (gene)

DNA polymerase epsilon catalytic subunit is an enzyme that in humans is encoded by the POLE gene.^[5][6] It is the central catalytic subunit of DNA polymerase epsilon.

POLE
Identifiers
Aliases	POLE, CRCS12, FILS, POLE1, polymerase (DNA) epsilon, catalytic subunit, DNA polymerase epsilon, catalytic subunit, IMAGEI
External IDs	OMIM: 174762; MGI: 1196391; HomoloGene: 4539; GeneCards: POLE; OMA:POLE - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q24.33 Start 132,623,753 bp[1] End 132,687,376 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 F|5 53.45 cM Start 110,434,172 bp[2] End 110,485,340 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum right testis left testis sural nerve ventricular zone spleen skin of abdomen skin of leg ganglionic eminence right lobe of liver Top expressed in otic vesicle otic placode saccule tail of embryo internal carotid artery epiblast genital tubercle endothelial cell of lymphatic vessel ventricular zone maxillary prominence More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity nucleotide binding DNA binding 4 iron, 4 sulfur cluster binding nucleotidyltransferase activity iron-sulfur cluster binding zinc ion binding chromatin binding metal ion binding nucleic acid binding DNA-directed DNA polymerase activity single-stranded DNA 3'-5' exodeoxyribonuclease activity protein binding Cellular component plasma membrane nucleoplasm nucleus epsilon DNA polymerase complex Biological process nucleotide-excision repair, DNA gap filling DNA synthesis involved in DNA repair DNA biosynthetic process embryonic organ development nucleic acid phosphodiester bond hydrolysis cellular response to DNA damage stimulus base-excision repair, gap-filling DNA repair DNA replication leading strand elongation DNA replication proofreading G1/S transition of mitotic cell cycle mitotic cell cycle DNA replication initiation telomere maintenance via semi-conservative replication Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5426 18973 Ensembl ENSG00000177084 ENSMUSG00000007080 UniProt Q07864 Q9WVF7 RefSeq (mRNA) NM_006231 NM_011132 RefSeq (protein) NP_006222 NP_035262 Location (UCSC) Chr 12: 132.62 – 132.69 Mb Chr 5: 110.43 – 110.49 Mb PubMed search [3] [4]
Wikidata
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Clinical significance

POLE, along with POLD1, has in 2013 been associated with multiple adenoma.^[7]

Interactions

POLE has been shown to interact with RAD17.^[8]