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Aliases for POLE Gene

Aliases for POLE Gene

  • Polymerase (DNA Directed), Epsilon, Catalytic Subunit 2 3
  • POLE1 3 4 6
  • DNA Polymerase Epsilon Catalytic Subunit A 2 3
  • DNA Polymerase II Subunit A 3 4
  • EC 2.7.7.7 4 63
  • CRCS12 3 6
  • FILS 3 6
  • Polymerase (DNA Directed), Epsilon 2
  • EC 2.7.7 63

External Ids for POLE Gene

Previous GeneCards Identifiers for POLE Gene

  • GC12U990073
  • GC12P132569
  • GC12M132825
  • GC12M131439
  • GC12M131810
  • GC12M131710
  • GC12M133200
  • GC12M129980

Summaries for POLE Gene

Entrez Gene Summary for POLE Gene

  • 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]

GeneCards Summary for POLE Gene

POLE (Polymerase (DNA Directed), Epsilon, Catalytic Subunit) is a Protein Coding gene. Diseases associated with POLE include colorectal cancer 12 and fils syndrome. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include chromatin binding and 4 iron, 4 sulfur cluster binding.

UniProtKB/Swiss-Prot for POLE Gene

  • Participates in DNA repair and in chromosomal DNA replication

Gene Wiki entry for POLE Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLE Gene

Genomics for POLE Gene

Regulatory Elements for POLE Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for POLE Gene

Start:
132,623,753 bp from pter
End:
132,687,524 bp from pter
Size:
63,772 bases
Orientation:
Minus strand

Genomic View for POLE Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for POLE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLE Gene

Proteins for POLE Gene

  • Protein details for POLE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07864-DPOE1_HUMAN
    Recommended name:
    DNA polymerase epsilon catalytic subunit A
    Protein Accession:
    Q07864
    Secondary Accessions:
    • Q13533
    • Q86VH9

    Protein attributes for POLE Gene

    Size:
    2286 amino acids
    Molecular mass:
    261518 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Note=Binds 1 [4Fe-4S] cluster.;
    Quaternary structure:
    • Catalytic and central component of the epsilon DNA polymerase complex consisting of four subunits: POLE, POLE2, POLE3 and POLE4. Interacts with RAD17 and TOPBP1.
    SequenceCaution:
    • Sequence=AAA15448.1; Type=Frameshift; Positions=443, 448; Evidence={ECO:0000305}; Sequence=AAA15448.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};

neXtProt entry for POLE Gene

Proteomics data for POLE Gene at MOPED

Post-translational modifications for POLE Gene

  • Ubiquitination at Lys431, Lys2110, and Lys2124
  • Modification sites at PhosphoSitePlus

Other Protein References for POLE Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for POLE Gene

Gene Families for POLE Gene

HGNC:
  • POL :DNA polymerases

Graphical View of Domain Structure for InterPro Entry

Q07864

UniProtKB/Swiss-Prot:

DPOE1_HUMAN :
  • Q07864
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
  • The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes.
Family:
  • Belongs to the DNA polymerase type-B family.
Similarity:
  • Contains 1 CysA-type zinc finger.
genes like me logo Genes that share domains with POLE: view

Function for POLE Gene

Molecular function for POLE Gene

UniProtKB/Swiss-Prot CatalyticActivity: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)
UniProtKB/Swiss-Prot Function: Participates in DNA repair and in chromosomal DNA replication

Enzyme Numbers (IUBMB) for POLE Gene

Gene Ontology (GO) - Molecular Function for POLE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding IDA 16762037
GO:0003682 chromatin binding IDA 16762037
GO:0003887 DNA-directed DNA polymerase activity IMP 16762037
genes like me logo Genes that share ontologies with POLE: view
genes like me logo Genes that share phenotypes with POLE: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for POLE

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for POLE Gene

Localization for POLE Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLE Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POLE Gene COMPARTMENTS Subcellular localization image for POLE gene
Compartment Confidence
nucleus 5
chloroplast 2
mitochondrion 2
cytosol 1
extracellular 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for POLE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16762037
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane IDA --
GO:0008622 epsilon DNA polymerase complex IDA 10801849
genes like me logo Genes that share ontologies with POLE: view

Pathways for POLE Gene

genes like me logo Genes that share pathways with POLE: view

Gene Ontology (GO) - Biological Process for POLE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0000278 mitotic cell cycle TAS --
GO:0000722 telomere maintenance via recombination TAS --
GO:0000723 telomere maintenance TAS --
GO:0000731 DNA synthesis involved in DNA repair IMP 1730053
genes like me logo Genes that share ontologies with POLE: view

Compounds for POLE Gene

(6) HMDB Compounds for POLE Gene

Compound Synonyms Cas Number PubMed IDs
dATP
  • 2'-Deoxy-5'-ATP
1927-31-7
dCTP
  • 2'-deoxycytidine-5'-triphosphate
2056-98-6
dGTP
  • 2'-Deoxyguanosine 5'-triphosphate
2564-35-4
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8

(1) Drugbank Compounds for POLE Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Cladribine
  • 2-CdA
4291-63-8 target inhibitor
genes like me logo Genes that share compounds with POLE: view

Transcripts for POLE Gene

Unigene Clusters for POLE Gene

Polymerase (DNA directed), epsilon, catalytic subunit:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for POLE

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for POLE

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for POLE Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b · 15c ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - - -
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32a · 32b ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^
SP1: - - -
SP2: - -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 43 ^ 44a · 44b ^ 45a · 45b ^ 46a · 46b · 46c ^ 47a · 47b ^ 48a · 48b ^ 49 ^ 50 ^ 51a · 51b · 51c
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4:
SP5:
SP6: - - -
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for POLE Gene

GeneLoc Exon Structure for
POLE
ECgene alternative splicing isoforms for
POLE

Expression for POLE Gene

mRNA expression in normal human tissues for POLE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for POLE Gene

This gene is overexpressed in Brain - Cerebellum (4.5) and Brain - Cerebellar Hemisphere (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for POLE Gene

SOURCE GeneReport for Unigene cluster for POLE Gene Hs.524871

genes like me logo Genes that share expressions with POLE: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for POLE Gene

Orthologs for POLE Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POLE 35
  • 99.72 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia POLE 35
  • 88.25 (n)
  • 91.86 (a)
POLE 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLE 35
  • 88.11 (n)
  • 91.51 (a)
POLE 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pole 35
  • 86.13 (n)
  • 91.17 (a)
Pole 16
Pole 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POLE 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 97 (a)
OneToMany
-- 36
  • 98 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pole 35
  • 86.19 (n)
  • 91.61 (a)
chicken
(Gallus gallus)
Aves POLE 35
  • 79.04 (n)
  • 84.17 (a)
POLE 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLE 36
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia pole-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pole 35
  • 73.01 (n)
  • 81.99 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1164 35
zebrafish
(Danio rerio)
Actinopterygii pole 35
  • 73.72 (n)
  • 80.6 (a)
pole 36
  • 80 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004615 35
  • 57.36 (n)
  • 58.15 (a)
fruit fly
(Drosophila melanogaster)
Insecta DNApol-epsilon 35
  • 60.35 (n)
  • 57.55 (a)
DNApol-epsilon 36
  • 56 (a)
OneToOne
DNApol-egr 37
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea F33H2.5 35
  • 51.63 (n)
  • 47.43 (a)
F33H2.5 36
  • 45 (a)
OneToOne
F33H2.5 37
  • 43 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR657C 35
  • 50.04 (n)
  • 46.31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POL2 35
  • 48.91 (n)
  • 45.22 (a)
POL2 36
  • 41 (a)
OneToOne
POL2 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C02585g 35
  • 49.78 (n)
  • 47.03 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons TIL1 35
  • 50.54 (n)
  • 45.92 (a)
rice
(Oryza sativa)
Liliopsida Os02g0511900 35
  • 50.76 (n)
  • 46.54 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04548 35
  • 53.73 (n)
  • 46.19 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cdc20 35
  • 48.64 (n)
  • 45.68 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 57 (a)
OneToOne
Species with no ortholog for POLE:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for POLE Gene

ENSEMBL:
Gene Tree for POLE (if available)
TreeFam:
Gene Tree for POLE (if available)

Paralogs for POLE Gene

Selected SIMAP similar genes for POLE Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with POLE: view

No data available for Paralogs for POLE Gene

Variants for POLE Gene

Sequence variations from dbSNP and Humsavar for POLE Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs8435 -- 132,623,791(+) AAAAA(A/C)AAAGT utr-variant-3-prime
rs14302 -- 132,624,162(+) ATTCC(C/T)GGGGA utr-variant-3-prime
rs4077170 -- 132,676,210(-) AACTT(C/G)GCTAG intron-variant
rs4128449 -- 132,683,334(-) TCCCC(C/G)CTACC intron-variant
rs4883536 -- 132,660,160(-) CAGCC(A/G)GCCGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for POLE Gene

Variant ID Type Subtype PubMed ID
dgv1531n71 CNV Loss 21882294
dgv1534n71 CNV Loss 21882294
dgv1536n71 CNV Loss 21882294
dgv1543n71 CNV Loss 21882294
nsv899826 CNV Loss 21882294
esv2422284 CNV Deletion 17116639
nsv899827 CNV Gain 21882294
esv2665414 CNV Deletion 23128226
esv1667239 CNV Deletion 17803354
nsv820101 CNV Loss 19587683
esv2747031 CNV Deletion 23290073
esv2747032 CNV Deletion 23290073
nsv512304 CNV Loss 21212237

Relevant External Links for POLE Gene

HapMap Linkage Disequilibrium report
POLE
Human Gene Mutation Database (HGMD)
POLE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLE Gene

Disorders for POLE Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for POLE Gene including...

Search for POLE Gene in MalaCards »

(2) OMIM Diseases for POLE Gene (174762)

UniProtKB/Swiss-Prot

DPOE1_HUMAN
  • Colorectal 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.
  • Facial 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.

Relevant External Links for POLE

Genetic Association Database (GAD)
POLE
Human Genome Epidemiology (HuGE) Navigator
POLE
genes like me logo Genes that share disorders with POLE: view

Publications for POLE Gene

  1. Molecular cloning of the cDNA for the catalytic subunit of human DNA polymerase epsilon. (PMID: 8486689) Kesti T. … Syvaeoja J.E. (J. Biol. Chem. 1993) 3 4 23
  2. Localization of the gene for DNA polymerase epsilon (POLE) to human chromosome 12q24.3 and rat chromosome 12 by somatic cell hybrid panels and fluorescence in situ hybridization. (PMID: 8020968) Szpirer J. … Szpirer C. (Genomics 1994) 2 3
  3. BRCT domain-containing protein TopBP1 functions in DNA replication and damage response. (PMID: 11395493) Maekiniemi M. … Syvaeoja J.E. (J. Biol. Chem. 2001) 3 4
  4. The human checkpoint Rad protein Rad17 is chromatin-associated throughout the cell cycle, localizes to DNA replication sites, and interacts with DNA polymerase epsilon. (PMID: 14500819) Post S.M. … Lee E.Y.-H.P. (Nucleic Acids Res. 2003) 3 4
  5. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PMID: 20522537) Briggs F.B. … Barcellos L.F. (Am. J. Epidemiol. 2010) 3 48

Products for POLE Gene

Sources for POLE Gene

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