Summary: This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013].

DNA polymerase epsilon, catalytic subunitMIM:174762Ensembl:ENSG00000177084HGNC:HGNC:9177PA27712q24.33

GO terms in POLE

Term TypeEvidence TypeGO Term IDGO Des.
MFIEAGO:0000166nucleotide binding
MFIBAGO:0003677DNA binding
MFIDAGO:0003677DNA binding
MFIDAGO:0003682chromatin binding
MFIBAGO:0003887DNA-directed DNA polymerase activity
MFIMPGO:0003887DNA-directed DNA polymerase activity
MFIPIGO:0005515protein binding
MFIEAGO:0008270zinc ion binding
MFIBAGO:0008310single-stranded DNA 3'-5' exodeoxyribonuclease activity
MFIEAGO:00515394 iron, 4 sulfur cluster binding
BPIMPGO:0000082G1/S transition of mitotic cell cycle
BPTASGO:0000082G1/S transition of mitotic cell cycle
BPIBAGO:0000278mitotic cell cycle
BPIMPGO:0000731DNA synthesis involved in DNA repair
BPIMPGO:0006260DNA replication
BPIBAGO:0006272leading strand elongation
BPIBAGO:0006287base-excision repair, gap-filling
BPIDAGO:0006287base-excision repair, gap-filling
BPIBAGO:0006297nucleotide-excision repair, DNA gap filling
BPIMPGO:0006297nucleotide-excision repair, DNA gap filling
BPIBAGO:0045004DNA replication proofreading
BPIEAGO:0048568embryonic organ development
BPIEAGO:0090305nucleic acid phosphodiester bond hydrolysis
CCIDAGO:0005886plasma membrane
CCIBAGO:0008622epsilon DNA polymerase complex
CCIDAGO:0008622epsilon DNA polymerase complex

Gene expression in normal tissue: POLE

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in POLE

DatabasePathway IDPathway Des.
reactomeR-HSA-110313Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template
reactomeR-HSA-110314Recognition of DNA damage by PCNA-containing replication complex
reactomeR-HSA-110373Resolution of AP sites via the multiple-nucleotide patch replacement pathway
reactomeR-HSA-157579Telomere Maintenance
reactomeR-HSA-1640170Cell Cycle
reactomeR-HSA-174417Telomere C-strand (Lagging Strand) Synthesis
reactomeR-HSA-174430Telomere C-strand synthesis initiation
reactomeR-HSA-180786Extension of Telomeres
reactomeR-HSA-453279Mitotic G1-G1/S phases
reactomeR-HSA-5651801PCNA-Dependent Long Patch Base Excision Repair
reactomeR-HSA-5656169Termination of translesion DNA synthesis
reactomeR-HSA-5685942HDR through Homologous Recombination (HRR)
reactomeR-HSA-5693532DNA Double-Strand Break Repair
reactomeR-HSA-5693538Homology Directed Repair
reactomeR-HSA-5693567HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)
reactomeR-HSA-5696397Gap-filling DNA repair synthesis and ligation in GG-NER
reactomeR-HSA-5696398Nucleotide Excision Repair
reactomeR-HSA-5696399Global Genome Nucleotide Excision Repair (GG-NER)
reactomeR-HSA-5696400Dual Incision in GG-NER
reactomeR-HSA-6781827Transcription-Coupled Nucleotide Excision Repair (TC-NER)
reactomeR-HSA-6782135Dual incision in TC-NER
reactomeR-HSA-6782210Gap-filling DNA repair synthesis and ligation in TC-NER
reactomeR-HSA-68874M/G1 Transition
reactomeR-HSA-68952DNA replication initiation
reactomeR-HSA-68962Activation of the pre-replicative complex
reactomeR-HSA-69002DNA Replication Pre-Initiation
reactomeR-HSA-69206G1/S Transition
reactomeR-HSA-69239Synthesis of DNA
reactomeR-HSA-69242S Phase
reactomeR-HSA-69278Cell Cycle, Mitotic
reactomeR-HSA-69306DNA Replication
reactomeR-HSA-73884Base Excision Repair
reactomeR-HSA-73886Chromosome Maintenance
reactomeR-HSA-73893DNA Damage Bypass
reactomeR-HSA-73894DNA Repair
reactomeR-HSA-73933Resolution of Abasic Sites (AP sites)
kegghsa00230Purine metabolism - Homo sapiens (human)
kegghsa00240Pyrimidine metabolism - Homo sapiens (human)
kegghsa03030DNA replication - Homo sapiens (human)
kegghsa03410Base excision repair - Homo sapiens (human)
kegghsa03420Nucleotide excision repair - Homo sapiens (human)
kegghsa05166HTLV-I infection - Homo sapiens (human)
wikipathwaysWP2446Retinoblastoma (RB) in Cancer
wikipathwaysWP4022Pyrimidine metabolism
wikipathwaysWP45G1 to S cell cycle control
wikipathwaysWP466DNA Replication
smpdbSMP00478Nucleotide Excision Repair

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.
iGMDRD974PD1 blockade3
iGMDRD973PD1 Ab inhibitor6

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in POLE