POLE
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| DNA polymerase epsilon, catalytic subunit | MIM:174762 | Ensembl:ENSG00000177084 | HGNC:HGNC:9177 | PA277 | 12q24.33 |
GO terms in POLE
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0000166 | nucleotide binding |
| MF | IBA | GO:0003677 | DNA binding |
| MF | IDA | GO:0003677 | DNA binding |
| MF | IDA | GO:0003682 | chromatin binding |
| MF | IBA | GO:0003887 | DNA-directed DNA polymerase activity |
| MF | IMP | GO:0003887 | DNA-directed DNA polymerase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0008270 | zinc ion binding |
| MF | IBA | GO:0008310 | single-stranded DNA 3'-5' exodeoxyribonuclease activity |
| MF | IEA | GO:0051539 | 4 iron, 4 sulfur cluster binding |
| BP | IMP | GO:0000082 | G1/S transition of mitotic cell cycle |
| BP | TAS | GO:0000082 | G1/S transition of mitotic cell cycle |
| BP | IBA | GO:0000278 | mitotic cell cycle |
| BP | IMP | GO:0000731 | DNA synthesis involved in DNA repair |
| BP | IMP | GO:0006260 | DNA replication |
| BP | IBA | GO:0006272 | leading strand elongation |
| BP | IBA | GO:0006287 | base-excision repair, gap-filling |
| BP | IDA | GO:0006287 | base-excision repair, gap-filling |
| BP | IBA | GO:0006297 | nucleotide-excision repair, DNA gap filling |
| BP | IMP | GO:0006297 | nucleotide-excision repair, DNA gap filling |
| BP | IBA | GO:0045004 | DNA replication proofreading |
| BP | IEA | GO:0048568 | embryonic organ development |
| BP | IEA | GO:0090305 | nucleic acid phosphodiester bond hydrolysis |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | IBA | GO:0008622 | epsilon DNA polymerase complex |
| CC | IDA | GO:0008622 | epsilon DNA polymerase complex |
Gene expression in normal tissue: POLE
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in POLE
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-110313 | Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template |
| reactome | R-HSA-110314 | Recognition of DNA damage by PCNA-containing replication complex |
| reactome | R-HSA-110373 | Resolution of AP sites via the multiple-nucleotide patch replacement pathway |
| reactome | R-HSA-157579 | Telomere Maintenance |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-174417 | Telomere C-strand (Lagging Strand) Synthesis |
| reactome | R-HSA-174430 | Telomere C-strand synthesis initiation |
| reactome | R-HSA-180786 | Extension of Telomeres |
| reactome | R-HSA-453279 | Mitotic G1-G1/S phases |
| reactome | R-HSA-5651801 | PCNA-Dependent Long Patch Base Excision Repair |
| reactome | R-HSA-5656169 | Termination of translesion DNA synthesis |
| reactome | R-HSA-5685942 | HDR through Homologous Recombination (HRR) |
| reactome | R-HSA-5693532 | DNA Double-Strand Break Repair |
| reactome | R-HSA-5693538 | Homology Directed Repair |
| reactome | R-HSA-5693567 | HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) |
| reactome | R-HSA-5696397 | Gap-filling DNA repair synthesis and ligation in GG-NER |
| reactome | R-HSA-5696398 | Nucleotide Excision Repair |
| reactome | R-HSA-5696399 | Global Genome Nucleotide Excision Repair (GG-NER) |
| reactome | R-HSA-5696400 | Dual Incision in GG-NER |
| reactome | R-HSA-6781827 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) |
| reactome | R-HSA-6782135 | Dual incision in TC-NER |
| reactome | R-HSA-6782210 | Gap-filling DNA repair synthesis and ligation in TC-NER |
| reactome | R-HSA-68874 | M/G1 Transition |
| reactome | R-HSA-68952 | DNA replication initiation |
| reactome | R-HSA-68962 | Activation of the pre-replicative complex |
| reactome | R-HSA-69002 | DNA Replication Pre-Initiation |
| reactome | R-HSA-69206 | G1/S Transition |
| reactome | R-HSA-69239 | Synthesis of DNA |
| reactome | R-HSA-69242 | S Phase |
| reactome | R-HSA-69278 | Cell Cycle, Mitotic |
| reactome | R-HSA-69306 | DNA Replication |
| reactome | R-HSA-73884 | Base Excision Repair |
| reactome | R-HSA-73886 | Chromosome Maintenance |
| reactome | R-HSA-73893 | DNA Damage Bypass |
| reactome | R-HSA-73894 | DNA Repair |
| reactome | R-HSA-73933 | Resolution of Abasic Sites (AP sites) |
| kegg | hsa00230 | Purine metabolism - Homo sapiens (human) |
| kegg | hsa00240 | Pyrimidine metabolism - Homo sapiens (human) |
| kegg | hsa03030 | DNA replication - Homo sapiens (human) |
| kegg | hsa03410 | Base excision repair - Homo sapiens (human) |
| kegg | hsa03420 | Nucleotide excision repair - Homo sapiens (human) |
| kegg | hsa05166 | HTLV-I infection - Homo sapiens (human) |
| wikipathways | WP2446 | Retinoblastoma (RB) in Cancer |
| wikipathways | WP4022 | Pyrimidine metabolism |
| wikipathways | WP45 | G1 to S cell cycle control |
| wikipathways | WP466 | DNA Replication |
| smpdb | SMP00478 | Nucleotide Excision Repair |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD974 | PD1 blockade | 3 |
| iGMDRD978 | Pembrolizumab | 2 |
| iGMDRD973 | PD1 Ab inhibitor | 6 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in POLE
CLASSFICATION
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