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POLE (gene)

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(Redirected from POLE1)
POLE
Identifiers
AliasesPOLE, CRCS12, FILS, POLE1, polymerase (DNA) epsilon, catalytic subunit, DNA polymerase epsilon, catalytic subunit, IMAGEI
External IDsOMIM: 174762; MGI: 1196391; HomoloGene: 4539; GeneCards: POLE; OMA:POLE - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006231

NM_011132

RefSeq (protein)

NP_006222

NP_035262

Location (UCSC)Chr 12: 132.62 – 132.69 MbChr 5: 110.43 – 110.49 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.

Clinical significance

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

Interactions

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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000177084Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000007080Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Szpirer J, Pedeutour F, Kesti T, Riviere M, Syväoja JE, Turc-Carel C, Szpirer C (Aug 1994). "Localization of the gene for DNA polymerase epsilon (POLE) to human chromosome 12q24.3 and rat chromosome 12 by somatic cell hybrid panels and fluorescence in situ hybridization". Genomics. 20 (2): 223–6. doi:10.1006/geno.1994.1156. PMID 8020968.
  6. ^ "Entrez Gene: POLE polymerase (DNA directed), epsilon".
  7. ^ Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, Kemp Z, Spain SL, Guarino E, Guarino Almeida E, Salguero I, Sherborne A, Chubb D, Carvajal-Carmona LG, Ma Y, Kaur K, Dobbins S, Barclay E, Gorman M, Martin L, Kovac MB, Humphray S, Lucassen A, Holmes CC, Bentley D, Donnelly P, Taylor J, Petridis C, Roylance R, Sawyer EJ, Kerr DJ, Clark S, Grimes J, Kearsey SE, Thomas HJ, McVean G, Houlston RS, Tomlinson I (2013). "Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas". Nat. Genet. 45 (2): 136–44. doi:10.1038/ng.2503. PMC 3785128. PMID 23263490.
  8. ^ Post SM, Tomkinson AE, Lee EY (Oct 2003). "The human checkpoint Rad protein Rad17 is chromatin-associated throughout the cell cycle, localizes to DNA replication sites, and interacts with DNA polymerase epsilon". Nucleic Acids Res. 31 (19). England: 5568–75. doi:10.1093/nar/gkg765. PMC 206465. PMID 14500819.

Further reading

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