GENE NAME | POLE |
CHROMOSOME | 12 |
ENSEMBL ID | ENSG00000177084 |
ENTREZ ID | 5426 |
UNIPROT ACCESSION NUMBER | Q07864 |
GO MOLECULAR FUNCTION | single-stranded DNA 3'-5' exodeoxyribonuclease activity; protein binding; DNA-directed DNA polymerase activity; 4 iron, 4 sulfur cluster binding; DNA binding; nucleotide binding; chromatin binding; zinc ion binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-453279; R-HSA-6781827; R-HSA-73884; R-HSA-5656169; R-HSA-5696397; R-HSA-73933; R-HSA-69278; R-HSA-73894; R-HSA-5696398; R-HSA-69239; R-HSA-5693538; R-HSA-69242; hsa03420; R-HSA-5696399; R-HSA-5693567; hsa03030; R-HSA-69002; R-HSA-110373; R-HSA-110314; R-HSA-5693532; R-HSA-69206; R-HSA-68962; R-HSA-110313; R-HSA-6782135; R-HSA-68952; R-HSA-5651801; R-HSA-73893; R-HSA-5696400; R-HSA-6782210; R-HSA-1640170; R-HSA-69306; hsa03410; R-HSA-5685942 |
2 combinations linked to POLE | OLI1135; OLI1039 |
2 variants linked to POLE | POLE:c.4900C>T, p.Arg1634Cys; POLE:c.830A>G, p.Glu277Gly |
2 diseases linked to POLE | Lynch syndrome; Primary ovarian failure |