Reactome | UniProt:Q07864 POLE

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UniProt:Q07864 POLE Show undefined attributes

chain	chain:1-2286
checksum	A213AE1EA8437DEC
comment	FUNCTION Catalytic component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in chromosomal DNA replication (By similarity). Required during synthesis of the leading DNA strands at the replication fork, binds at/or near replication origins and moves along DNA with the replication fork (By similarity). Has 3'-5' proofreading exonuclease activity that corrects errors arising during DNA replication (By similarity). Involved in DNA synthesis during DNA repair (PubMed:20227374, PubMed:27573199). Along with DNA polymerase POLD1 and DNA polymerase POLK, has a role in excision repair (NER) synthesis following UV irradiation (PubMed:20227374).CATALYTIC ACTIVITY DNA(n) + a 2'-deoxyribonucleoside 5'-triphosphate = DNA(n+1) + diphosphateSUBUNIT Component of the DNA polymerase epsilon complex consisting of four subunits: the catalytic subunit POLE and the accessory subunits POLE2, POLE3 and POLE4. Interacts with RAD17 and TOPBP1.INTERACTION The DNA polymerase activity domain resides in the N-terminal half of the protein, while the C-terminus is necessary for maintenance of the complex.DOMAIN The CysA-type zinc finger is required for PCNA-binding.DOMAIN The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes.DISEASE Disease susceptibility is associated with variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the DNA polymerase type-B family.
crossReference	[DatabaseIdentifier:12328488] RefSeq:NP_006222.2 [DatabaseIdentifier:12287753] Pharos - Targets:Q07864 [DatabaseIdentifier:12248347] PRO:Q07864 [DatabaseIdentifier:12147909] PDB:7PFO [DatabaseIdentifier:12175217] PDB:9B8S [DatabaseIdentifier:12143958] PDB:7PLO [DatabaseIdentifier:12175215] PDB:9NE7 [DatabaseIdentifier:12175219] PDB:9F6D [DatabaseIdentifier:12175211] PDB:9NE9 [DatabaseIdentifier:12175226] PDB:9F6F [DatabaseIdentifier:12175207] PDB:9NEA [DatabaseIdentifier:12192699] PDB:5VBN [DatabaseIdentifier:12175218] PDB:9B8T [DatabaseIdentifier:12192701] PDB:9F6L [DatabaseIdentifier:12192703] PDB:9F6J [DatabaseIdentifier:12192700] PDB:9F6K [DatabaseIdentifier:12175213] PDB:9NE8 [DatabaseIdentifier:12175225] PDB:9F6E [DatabaseIdentifier:12192702] PDB:9F6I [DatabaseIdentifier:12175216] PDB:9NE6 [DatabaseIdentifier:12135519] Orphanet:POLE [DatabaseIdentifier:12127524] OpenTargets:ENSG00000177084 [DatabaseIdentifier:11842927] HPA:ENSG00000177084-POLE [DatabaseIdentifier:11830117] HMDB Protein:HMDBP00961 [DatabaseIdentifier:11805651] GlyGen:Q07864 [DatabaseIdentifier:11789905] GeneCards:POLE [DatabaseIdentifier:11667332] ENSEMBL:ENST00000320574 [DatabaseIdentifier:11544633] ENSEMBL:ENSP00000322570 [DatabaseIdentifier:11454444] ENSEMBL:ENSG00000177084
databaseName	UniProt
dbId	89361
description	recommendedName: DNA polymerase epsilon catalytic subunit A ecNumber evidence="2"2.7.7.7 alternativeName: fullName evidence="15"3'-5' exodeoxyribonuclease ecNumber evidence="2"3.1.11.- alternativeName: DNA polymerase II subunit A
displayName	UniProt:Q07864 POLE
geneName	POLE POLE1
identifier	Q07864
isSequenceChanged	false
keyword	3D-structure 4Fe-4S Direct protein sequencing Disease variant DNA damage DNA repair DNA replication DNA-binding DNA-directed DNA polymerase Hydrolase Iron Iron-sulfur Metal-binding Nucleotidyltransferase Nucleus Phosphoprotein Proteomics identification Reference proteome Transferase Zinc Zinc-finger
modified	[InstanceEdit:9939033] Weiser, Joel, 2025-02-21
moleculeType	Protein
name	POLE
otherIdentifier	11719750_s_at 16772625 1726_at 216026_PM_s_at 216026_s_at 3479182 3479183 3479184 3479185 3479186 3479187 3479188 3479189 3479190 3479191 3479192 3479193 3479194 3479195 3479196 3479197 3479198 3479202 3479203 3479204 3479205 3479206 3479207 3479208 3479212 3479213 3479215 3479217 3479218 3479219 3479220 3479221 3479222 3479223 3479224 3479226 3479228 3479229 3479230 3479231 3479234 3479235 3479237 3479238 3479239 3479240 3479241 3479242 3479243 3479244 3479245 3479246 3479248 3479249 3479250 3479251 3479253 3479254 3479255 3479256 3479257 3479258 3479259 3479260 3479263 3479264 3479265 3479266 3479267 3479268 3479269 3479270 3479271 3479272 3479273 3479274 3479275 3479276 3479277 3479279 3479280 40450_at 40451_at 5426 7967736 A_23_P159355 A_24_P918387 A_33_P3255794 A_33_P3695548 GE57596 GO:0000082 GO:0000166 GO:0000278 GO:0000731 GO:0003676 GO:0003677 GO:0003682 GO:0003824 GO:0003887 GO:0005515 GO:0005634 GO:0005654 GO:0005886 GO:0006260 GO:0006261 GO:0006272 GO:0006281 GO:0006287 GO:0006297 GO:0006974 GO:0008270 GO:0008310 GO:0008622 GO:0016740 GO:0016779 GO:0016787 GO:0034061 GO:0045004 GO:0046872 GO:0048568 GO:0048856 GO:0051536 GO:0051539 GO:0071897 GO:0140097 HMNXSV003041851 Hs.166846.1.S1_3p_a_at ILMN_1728199 PH_hs_0025509 TC12002153.hg
physicalEntity	[EntityWithAccessionedSequence:R-HSA-68473] POLE [nucleoplasm] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12727581] UCSC:Q07864 POLE [ReferenceDNASequence:12112392] OMIM:174762 POLE [ReferenceDNASequence:12033300] NCBI Gene:5426 POLE [ReferenceDNASequence:11949207] Monarch:5426 POLE [ReferenceDNASequence:11862349] KEGG:hsa:5426 POLE [ReferenceDNASequence:11821561] HGNC:9177 POLE [ReferenceDNASequence:11434797] dbSNP Gene:5426 POLE [ReferenceDNASequence:11416938] CTD Gene:5426 POLE [ReferenceDNASequence:11398027] COSMIC - genes:POLE POLE [ReferenceDNASequence:11319418] BioGPS Gene:5426 POLE [ReferenceDNASequence:ensembl:ENSG00000177084] ENSEMBL:ENSG00000177084 POLE
referenceTranscript	[ReferenceRNASequence:12510399] RefSeq:NM_006231.4 POLE
schemaClass	ReferenceGeneProduct
secondaryIdentifier	DPOE1_HUMAN Q13533 Q86VH9
sequenceLength	2286
species	[Species:48887] Homo sapiens
stId	uniprot:Q07864
url	http://purl.uniprot.org/uniprot/Q07864

Referrals

(interactor)	[UndirectedInteraction:11208179] UniProt:P01106 <-> UniProt:Q07864 (IntAct) [UndirectedInteraction:11199779] UniProt:P15056 <-> UniProt:Q07864 (IntAct) [UndirectedInteraction:11136373] UniProt:Q15185 <-> UniProt:Q07864 (IntAct)
(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-68473] POLE [nucleoplasm]