Version 5.4
Homo sapiens Gene: POLE
Summary
InnateDB Gene IDBG-65706.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol POLE
Gene Name polymerase (DNA directed), epsilon, catalytic subunit
Synonyms CRCS12; FILS; POLE1
Species Homo sapiens
Ensembl Gene ENSG00000177084
Encoded Proteins
IDBP-65712
polymerase (DNA directed), epsilon
IDBP-807979
polymerase (DNA directed), epsilon, catalytic subunit
IDBP-583803
polymerase (DNA directed), epsilon
IDBP-596539
polymerase (DNA directed), epsilon
IDBP-807978
polymerase (DNA directed), epsilon, catalytic subunit
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:132623753-132687365
Strand Reverse strand
Band q24.33
Transcripts
ENST00000320574 ENSP00000322570
ENST00000441786 ENSP00000480727
ENST00000416953
ENST00000434528
ENST00000503265
ENST00000541627
ENST00000537064 ENSP00000442578
ENST00000534922
ENST00000535270 ENSP00000445753
ENST00000544692
ENST00000538196
ENST00000544870 ENSP00000479927
ENST00000541213
ENST00000544414
ENST00000542362
ENST00000540987
ENST00000536445
ENST00000539215
ENST00000545015
ENST00000535934
ENST00000539618
ENST00000539357
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 26 [view]
Protein-Protein 26 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003887 DNA-directed DNA polymerase activity
GO:0008270 zinc ion binding
GO:0051539 4 iron, 4 sulfur cluster binding
Biological Process
GO:0000082 G1/S transition of mitotic cell cycle
GO:0000278 mitotic cell cycle
GO:0000722 telomere maintenance via recombination
GO:0000723 telomere maintenance
GO:0000731 DNA synthesis involved in DNA repair
GO:0001701 in utero embryonic development
GO:0006139 nucleobase-containing compound metabolic process
GO:0006260 DNA replication
GO:0006261 DNA-dependent DNA replication
GO:0006270 DNA replication initiation
GO:0006281 DNA repair
GO:0006283 transcription-coupled nucleotide-excision repair
GO:0006287 base-excision repair, gap-filling
GO:0006289 nucleotide-excision repair
GO:0006297 nucleotide-excision repair, DNA gap filling
GO:0032201 telomere maintenance via semi-conservative replication
GO:0071897 DNA biosynthetic process
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0008622 epsilon DNA polymerase complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000007080
View Gene Order
ENSBTAG00000000590
Not yet available
Pathways
NETPATH
REACTOME
REACT_7993
Telomere C-strand synthesis initiation pathway
REACT_7961
Telomere C-strand (Lagging Strand) Synthesis pathway
REACT_2244
DNA replication initiation pathway
REACT_1095
Activation of the pre-replicative complex pathway
REACT_1993
Repair synthesis for gap-filling by DNA polymerase in TC-NER pathway
REACT_74
Gap-filling DNA repair synthesis and ligation in TC-NER pathway
REACT_1628
Transcription-coupled NER (TC-NER) pathway
REACT_378
Repair synthesis of patch ~27-30 bases long by DNA polymerase pathway
REACT_1998
Gap-filling DNA repair synthesis and ligation in GG-NER pathway
REACT_383
DNA Replication pathway
REACT_2014
Synthesis of DNA pathway
REACT_21267
Mitotic G1-G1/S phases pathway
REACT_899
S Phase pathway
REACT_22172
Chromosome Maintenance pathway
REACT_734
DNA Replication Pre-Initiation pathway
REACT_2253
Global Genomic NER (GG-NER) pathway
REACT_7970
Telomere Maintenance pathway
REACT_1783
G1/S Transition pathway
REACT_115566
Cell Cycle pathway
REACT_1725
M/G1 Transition pathway
REACT_152
Cell Cycle, Mitotic pathway
REACT_8030
Extension of Telomeres pathway
REACT_1826
Nucleotide Excision Repair pathway
REACT_216
DNA Repair pathway
KEGG
hsa00240
Pyrimidine metabolism pathway
hsa03030
DNA replication pathway
hsa00230
Purine metabolism pathway
hsa03420
Nucleotide excision repair pathway
hsa03410
Base excision repair pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.524871 Hs.616423
RefSeq NM_006231
HUGO
OMIM
CCDS CCDS9278
HPRD 07177
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca