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POLE (gene)

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From Wikipedia, the free encyclopedia

Protein-coding gene in humans

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	132,623,753bp^[1]
Band	12q24.33	End	132,687,376bp^[1]

Gene location (Mouse)

Chr.	Chromosome 5 (mouse)^[2]

Band	5 F\|5 53.45 cM	Start	110,434,172bp^[2]
Band	5 F\|5 53.45 cM	End	110,485,340bp^[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

View/Edit Human

View/Edit Mouse

DNA polymerase epsilon catalytic subunit is anenzyme that in humans is encoded by thePOLEgene.^[5]^[6] It is the central catalytic subunit ofDNA polymerase epsilon.

Clinical significance

[edit]

POLE, along withPOLD1, has in 2013 been associated with multiple adenoma.^[7]

Interactions

[edit]

POLE has been shown tointeract withRAD17.^[8]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000177084 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000007080 –Ensembl, May 2017
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^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.
^"Entrez Gene: POLE polymerase (DNA directed), epsilon".
^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.
^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.

Popanda O, Thielmann HW (1992). "The function of DNA polymerases in DNA repair synthesis of ultraviolet-irradiated human fibroblasts".Biochim. Biophys. Acta.1129 (2):155–60.doi:10.1016/0167-4781(92)90480-N.PMID 1730053.
Kesti T, Frantti H, Syväoja JE (1993)."Molecular cloning of the cDNA for the catalytic subunit of human DNA polymerase epsilon".J. Biol. Chem.268 (14):10238–45.doi:10.1016/S0021-9258(18)82195-0.PMID 8486689.
Mozzherin DJ, Fisher PA (1996). "Human DNA polymerase epsilon: enzymologic mechanism and gap-filling synthesis".Biochemistry.35 (11):3572–7.doi:10.1021/bi952142p.PMID 8639508.
Cujec TP, Cho H, Maldonado E, Meyer J, Reinberg D, Peterlin BM (1997)."The human immunodeficiency virus transactivator Tat interacts with the RNA polymerase II holoenzyme".Mol. Cell. Biol.17 (4):1817–23.doi:10.1128/mcb.17.4.1817.PMC 232028.PMID 9121429.
Coll JM, Hickey RJ, Cronkey EA, Jiang HY, Schnaper L, Lee MY, Uitto L, Syvaoja JE, Malkas LH (1998). "Mapping specific protein-protein interactions within the core component of the breast cell DNA synthesome".Oncol. Res.9 (11–12):629–39.PMID 9563011.
Huang D, Pospiech H, Kesti T, Syväoja JE (1999)."Structural organization and splice variants of the POLE1 gene encoding the catalytic subunit of human DNA polymerase epsilon".Biochem. J.339 (3):657–65.doi:10.1042/0264-6021:3390657.PMC 1220202.PMID 10215605.
Araújo SJ, Tirode F, Coin F, Pospiech H, Syväoja JE, Stucki M, Hübscher U, Egly JM, Wood RD (2000)."Nucleotide excision repair of DNA with recombinant human proteins: definition of the minimal set of factors, active forms of TFIIH, and modulation by CAK".Genes Dev.14 (3):349–59.doi:10.1101/gad.14.3.349.PMC 316364.PMID 10673506.
Li Y, Pursell ZF, Linn S (2000)."Identification and cloning of two histone fold motif-containing subunits of HeLa DNA polymerase epsilon".J. Biol. Chem.275 (30):23247–52.doi:10.1074/jbc.M002548200.PMID 10801849.
Mäkiniemi M, Hillukkala T, Tuusa J, Reini K, Vaara M, Huang D, Pospiech H, Majuri I, Westerling T, Mäkelä TP, Syväoja JE (2001)."BRCT domain-containing protein TopBP1 functions in DNA replication and damage response".J. Biol. Chem.276 (32):30399–406.doi:10.1074/jbc.M102245200.PMID 11395493.
Fuss J, Linn S (2002)."Human DNA polymerase epsilon colocalizes with proliferating cell nuclear antigen and DNA replication late, but not early, in S phase".J. Biol. Chem.277 (10):8658–66.doi:10.1074/jbc.M110615200.PMID 11741962.
Ohta S, Shiomi Y, Sugimoto K, Obuse C, Tsurimoto T (2002)."A proteomics approach to identify proliferating cell nuclear antigen (PCNA)-binding proteins in human cell lysates. Identification of the human CHL12/RFCs2-5 complex as a novel PCNA-binding protein".J. Biol. Chem.277 (43):40362–7.doi:10.1074/jbc.M206194200.PMID 12171929.
Post SM, Tomkinson AE, Lee EY (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):5568–75.doi:10.1093/nar/gkg765.PMC 206465.PMID 14500819.
Lehner B, Semple JI, Brown SE, Counsell D, Campbell RD, Sanderson CM (2004). "Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region".Genomics.83 (1):153–67.doi:10.1016/S0888-7543(03)00235-0.PMID 14667819.
Clark AG, Glanowski S, Nielsen R, Thomas PD, Kejariwal A, Todd MA, Tanenbaum DM, Civello D, Lu F, Murphy B, Ferriera S, Wang G, Zheng X, White TJ, Sninsky JJ, Adams MD, Cargill M (2003). "Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios".Science.302 (5652):1960–3.Bibcode:2003Sci...302.1960C.doi:10.1126/science.1088821.PMID 14671302.S2CID 6682593.
Rytkönen AK, Vaara M, Nethanel T, Kaufmann G, Sormunen R, Läärä E, Nasheuer HP, Rahmeh A, Lee MY, Syväoja JE, Pospiech H (2006). "Distinctive activities of DNA polymerases during human DNA replication".FEBS J.273 (13):2984–3001.doi:10.1111/j.1742-4658.2006.05310.x.PMID 16762037.S2CID 32819159.
Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007)."Large-scale mapping of human protein-protein interactions by mass spectrometry".Mol. Syst. Biol.3 (1): 89.doi:10.1038/msb4100134.PMC 1847948.PMID 17353931.

DNA replication (comparingprokaryotic toeukaryotic)

Initiation

Prokaryotic (initiation)	Pre-replication complex dnaC Helicase dnaA dnaB T7 Primase dnaG
Eukaryotic (preparation in G1 phase)	Pre-replication complex Origin recognition complex ORC1 ORC2 ORC3 ORC4 ORC5 ORC6 Cdc6 Cdt1 Minichromosome maintenance MCM2 MCM3 MCM4 MCM5 MCM6 MCM7 Licensing factor Autonomously replicating sequence Single-strand binding protein SSBP2 SSBP3 SSBP4 RNase H RNASEH1 RNASEH2A Helicase:HFM1 Primase:PRIM1 PRIM2
Both	Origin of replication/Ori/Replicon Replication fork Lagging andleading strands Okazaki fragments Primer

Replication

Prokaryotic (elongation)	DNA polymerase III holoenzyme dnaC dnaE dnaH dnaN dnaQ dnaT dnaX holA holB holC holD holE Replisome DNA ligase DNA clamp Topoisomerase DNA gyrase Prokaryotic DNA polymerase:DNA polymerase I Klenow fragment
Eukaryotic (synthesis in S phase)	Replication factor C RFC1 Flap endonuclease FEN1 Topoisomerase Replication protein A RPA1 Eukaryotic DNA polymerase: alpha POLA1 POLA2 PRIM1 PRIM2 delta POLD1 POLD2 POLD3 POLD4 epsilon POLE POLE2 POLE3 POLE4 DNA clamp PCNA Control of chromosome duplication
Both	Movement:Processivity DNA ligase

Termination

Telomere:Telomerase

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Clinical significance

Interactions

References

Further reading