POLE

POLE (DNA Polymerase Epsilon, Catalytic Subunit) is a protein coding gene. Diseases associated with POLE include Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature and Colorectal Cancer 12. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and Cell Cycle, Mitotic. Gene Ontology annotations related to this gene include nucleic acid binding and chromatin binding.

Full Name

DNA Polymerase Epsilon, Catalytic Subunit

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).

Biological Process

Base-excision repair, gap-fillingManual Assertion Based On ExperimentIDA:UniProtKB
DNA replicationManual Assertion Based On ExperimentIMP:UniProtKB
DNA replication proofreadingManual Assertion Based On ExperimentIBA:GO_Central
DNA synthesis involved in DNA repairManual Assertion Based On ExperimentIMP:UniProtKB
DNA-templated DNA replicationManual Assertion Based On ExperimentIDA:ComplexPortal
Embryonic organ developmentIEA:Ensembl
G1/S transition of mitotic cell cycleManual Assertion Based On ExperimentIMP:UniProtKB
Leading strand elongationManual Assertion Based On ExperimentIBA:GO_Central
Mitotic cell cycleManual Assertion Based On ExperimentIBA:GO_Central
Nucleotide-excision repair, DNA gap fillingManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Nucleus

Involvement in disease

Colorectal cancer 12 (CRCS12):
A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. CRCS12 is characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset is usually before age 40 years. The histologic features of the tumors are unremarkable.
Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS):
A syndrome characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, and immunodeficiency resulting in recurrent infections. Growth impairment is observed during early childhood and results in variable short stature in adulthood.
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency (IMAGEI):
An autosomal recessive disorder characterized by intrauterine growth retardation, postnatal growth failure, metaphyseal dysplasia, adrenal hypoplasia congenita, growth hormone deficiency, genital anomalies, and immunodeficiency resulting in increased infections.