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MGP002353

UniProt Annotations

Entry Information
Gene Namepolymerase (DNA directed), epsilon, catalytic subunit
Protein EntryDPOE1_HUMAN
UniProt IDQ07864
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityDeoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
CofactorName=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Evidence={ECO:0000250}; Note=Binds 1 [4Fe-4S] cluster. {ECO:0000250};
DiseaseColorectal cancer 12 (CRCS12) [MIM:615083]: 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. {ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24501277}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
DiseaseFacial dysmorphism, immunodeficiency, livedo, and short stature (FILS) [MIM:615139]: 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. {ECO:0000269|PubMed:23230001}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes. {ECO:0000250}.
DomainThe 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.
FunctionParticipates in DNA repair and in chromosomal DNA replication.
Sequence CautionSequence=AAA15448.1; Type=Frameshift; Positions=443, 448; Evidence={ECO:0000305}; Sequence=AAA15448.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};
SimilarityBelongs to the DNA polymerase type-B family. {ECO:0000305}.
SimilarityContains 1 CysA-type zinc finger. {ECO:0000305}.
Subcellular LocationNucleus.
SubunitCatalytic and central component of the epsilon DNA polymerase complex consisting of four subunits: POLE, POLE2, POLE3 and POLE4. Interacts with RAD17 and TOPBP1. {ECO:0000269|PubMed:10801849, ECO:0000269|PubMed:11395493, ECO:0000269|PubMed:14500819}.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/pole/";
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