POLE, POLE1, DNA polymerase epsilon catalytic subunit A, DNA polymerase II subunit A
DNA polymerase epsilon, catalytic subunit(POLE) Homo sapiens 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],catalytic activity:Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).,domain:The DNA polymerase activity domain resides in the N-terminal half of the protein, while the C-terminus is necessary for complexing subunits B and C. The C-terminus may also regulate the catalytic activities of the enzyme.,function:Participates in DNA repair and in chromosomal DNA replication.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the DNA polymerase type-B family.,subunit:Consists of two subunits (258 kDa and 55 kDa). Interacts with RAD17 and TOPBP1.,
