POLE Gene Summary [Human]
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]
Details
| Type | Retained Intron |
| Official Symbol | POLE |
| Official Name | DNA polymerase epsilon, catalytic subunit [Source:HGNC Symbol;Acc:HGNC:9177] |
| Ensembl ID | ENSG00000177084 |
| Bio databases IDs | |
| Aliases | DNA polymerase epsilon, catalytic subunit, DNA polymerase epsilon catalytic subunit A |
| Synonyms | CRCS12, DNA polymerase epsilon, catalytic subunit, DNA polymerase epsilon, catalytic subunit A, DNA polymerase ε, catalytic subunit, DNA polymerase ε, catalytic subunit A, FILS, IMAGEI, POLE1, Pole mapped, polymerase (DNA directed), epsilon, polymerase (DNA directed), ε, polymerase (DNA) epsilon, catalytic subunit, polymerase (DNA) ε, catalytic subunit, pol ε |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human POLE often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- DNA polymerase family B, exonuclease domain
- Predicted 3'-5' exonuclease related to the exonuclease domain of PolB
- DNA-directed DNA polymerase
- DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
- DNA polymerase type-B family
- Domain of unknown function (DUF1744)
- chromatin binding
- enzyme
- protein binding
- DNA binding
- POLBc
Pathways
Biological processes and signaling networks where the POLE gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- epithelial cancer
- epithelial neoplasia
- neoplasia
- myelodysplastic syndrome
- digestive system cancer
- abdominal cancer
- glioma formation
- precursor B-cell acute lymphoblastic leukemia
- metastatic rectal adenocarcinoma
role in cell
- expression in
- phosphorylation in
- proliferation
- apoptosis
- molecular cleavage in
- colony formation by
- damage in
- homologous recombination repair in
- non-homologous end joining in
- synthesis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- interchromatin granule cluster fractions
- nuclear fraction
- Plasma Membrane
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human POLE gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA replication
- leading strand elongation
- G1/S transition of mitotic cell cycle
- DNA-dependent DNA replication
- embryonic organ development
- nucleotide-excision repair, DNA gap filling
- DNA replication proofreading
- base-excision repair, gap-filling
- DNA synthesis involved in DNA repair
- mitotic cell cycle
Cellular Component
Where in the cell the gene product is active
- nucleus
- plasma membrane
- nucleoplasm
- epsilon DNA polymerase complex
Molecular Function
What the gene product does at the molecular level
- nucleotide binding
- DNA binding
- zinc ion binding
- DNA-directed DNA polymerase activity
- protein binding
- 4 iron, 4 sulfur cluster binding
- chromatin binding
- single-stranded DNA specific 3'-5' exodeoxyribonuclease activity