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POLE (polymerase (DNA directed), epsilon, catalytic subunit)

Identity

Other namesCRCS12
FILS
POLE1
HGNC (Hugo) POLE
LocusID (NCBI) 5426
Location 12q24.33
Location_base_pair Starts at 133200348 and ends at 133264110 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)POLE   9177
Cards
Entrez_Gene (NCBI)POLE  5426  polymerase (DNA directed), epsilon, catalytic subunit
GeneCards (Weizmann)POLE
Ensembl (Hinxton)ENSG00000177084 [Gene_View]  chr12:133200348-133264110 [Contig_View]  POLE [Vega]
ICGC DataPortalENSG00000177084
AceView (NCBI)POLE
Genatlas (Paris)POLE
WikiGenes5426
SOURCE (Princeton)NM_006231
Genomic and cartography
GoldenPath (UCSC)POLE  -  12q24.33   chr12:133200348-133264110 -  12q24.33   [Description]    (hg19-Feb_2009)
EnsemblPOLE - 12q24.33 [CytoView]
Mapping of homologs : NCBIPOLE [Mapview]
OMIM174762   615083   615139   
Gene and transcription
Genbank (Entrez)AF128542 AF128544 AK025087 AK093003 AK128248
RefSeq transcript (Entrez)NM_006231
RefSeq genomic (Entrez)AC_000144 NC_000012 NC_018923 NG_033840 NT_024477 NW_001838067 NW_004929387
Consensus coding sequences : CCDS (NCBI)POLE
Cluster EST : UnigeneHs.524871 [ NCBI ]
CGAP (NCI)Hs.524871
Alternative Splicing : Fast-db (Paris)GSHG0007942
Alternative Splicing GalleryENSG00000177084
Gene ExpressionPOLE [ NCBI-GEO ]     POLE [ SEEK ]   POLE [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ07864 (Uniprot)
NextProtQ07864  [Medical]
With graphics : InterProQ07864
Splice isoforms : SwissVarQ07864 (Swissvar)
Catalytic activity : Enzyme2.7.7.7 [ Enzyme-Expasy ]   2.7.7.72.7.7.7 [ IntEnz-EBI ]   2.7.7.7 [ BRENDA ]   2.7.7.7 [ KEGG ]   
Domains : Interpro (EBI)DNA-dir_DNA_pol_B    DNA-dir_DNA_pol_B_exonuc    DNA-dir_DNA_pol_B_multi_dom    DNA_pol_e_suA_C    RNaseH-like_dom   
Related proteins : CluSTrQ07864
Domain families : Pfam (Sanger)DNA_pol_B (PF00136)    DNA_pol_B_exo1 (PF03104)    DUF1744 (PF08490)   
Domain families : Pfam (NCBI)pfam00136    pfam03104    pfam08490   
Domain families : Smart (EMBL)POLBc (SM00486)  
DMDM Disease mutations5426
Blocks (Seattle)Q07864
Human Protein AtlasENSG00000177084
Peptide AtlasQ07864
HPRD07177
IPIIPI00939602   IPI00940894   IPI01019102   IPI00000898   IPI00797203   IPI00744598   IPI00790334   IPI01012998   IPI01013454   IPI01013828   
Protein Interaction databases
DIP (DOE-UCLA)Q07864
IntAct (EBI)Q07864
FunCoupENSG00000177084
BioGRIDPOLE
IntegromeDBPOLE
STRING (EMBL)POLE
Ontologies - Pathways
QuickGOQ07864
Ontology : AmiGOG1/S transition of mitotic cell cycle  G1/S transition of mitotic cell cycle  nucleotide binding  mitotic cell cycle  telomere maintenance via recombination  telomere maintenance  DNA synthesis involved in DNA repair  in utero embryonic development  DNA binding  chromatin binding  DNA-directed DNA polymerase activity  nucleus  nucleoplasm  nucleolus  cytoplasm  plasma membrane  DNA replication  DNA replication initiation  DNA repair  transcription-coupled nucleotide-excision repair  base-excision repair, gap-filling  nucleotide-excision repair  nucleotide-excision repair, DNA gap filling  nucleotide-excision repair, DNA gap filling  zinc ion binding  epsilon DNA polymerase complex  telomere maintenance via semi-conservative replication  4 iron, 4 sulfur cluster binding  
Ontology : EGO-EBIG1/S transition of mitotic cell cycle  G1/S transition of mitotic cell cycle  nucleotide binding  mitotic cell cycle  telomere maintenance via recombination  telomere maintenance  DNA synthesis involved in DNA repair  in utero embryonic development  DNA binding  chromatin binding  DNA-directed DNA polymerase activity  nucleus  nucleoplasm  nucleolus  cytoplasm  plasma membrane  DNA replication  DNA replication initiation  DNA repair  transcription-coupled nucleotide-excision repair  base-excision repair, gap-filling  nucleotide-excision repair  nucleotide-excision repair, DNA gap filling  nucleotide-excision repair, DNA gap filling  zinc ion binding  epsilon DNA polymerase complex  telomere maintenance via semi-conservative replication  4 iron, 4 sulfur cluster binding  
Pathways : KEGGPurine metabolism    Pyrimidine metabolism    DNA replication    Base excision repair    Nucleotide excision repair    HTLV-I infection   
Protein Interaction DatabasePOLE
Wikipedia pathwaysPOLE
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)POLE
SNP (GeneSNP Utah)POLE
SNP : HGBasePOLE
Genetic variants : HAPMAPPOLE
1000_GenomesPOLE 
ICGC programENSG00000177084 
CONAN: Copy Number AnalysisPOLE 
Somatic Mutations in Cancer : COSMICPOLE 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
DECIPHER (Syndromes)12:133200348-133264110
Mutations and Diseases : HGMDPOLE
OMIM174762    615083    615139   
MedgenPOLE
GENETestsPOLE
Disease Genetic AssociationPOLE
Huge Navigator POLE [HugePedia]  POLE [HugeCancerGEM]
Genomic VariantsPOLE  POLE [DGVbeta]
Exome VariantPOLE
dbVarPOLE
ClinVarPOLE
snp3D : Map Gene to Disease5426
General knowledge
Homologs : HomoloGenePOLE
Homology/Alignments : Family Browser (UCSC)POLE
Phylogenetic Trees/Animal Genes : TreeFamPOLE
Chemical/Protein Interactions : CTD5426
Chemical/Pharm GKB GenePA277
Clinical trialPOLE
Cancer Resource (Charite)ENSG00000177084
Other databases
Probes
Litterature
PubMed68 Pubmed reference(s) in Entrez
CoreMinePOLE
GoPubMedPOLE
iHOPPOLE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Nov 8 17:49:31 CET 2014

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