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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
POLE 5426 polymerase (DNA directed), epsilon, catalytic subunit  12POLE1 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
25370038   2015Cell line : -

Source : Laboratory for Diagnostic Genome Analysis in Leiden, Netherlands Foundation for the Detection of Hereditary Tumours and from clinical genetics departments in the Netherlands

Sample Type : -

No. of Sample : -

Stage : -

Semiconductor sequencing,Methylation, Somatic mutation screening,Genotyping, Allele-specific PCR, immunohistochemistry Mutation--

26297796   2015Cell line : -

Source : -

Sample Type : -

No. of Sample : -

Stage : -

-Mutation--


Gene Details



NC_000012.11 (133200344..133264050, complement)

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Gene Type protein coding
Gene Family DNA polymerases
Description 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]  
Chromosome 12
Location 12q24.3
Start 133200344  
End 133264050  
Strand -  
Gene Sequence

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Length 63707  
OMIM ID 174762   
HGNC ID HGNC:9177   
Unigene ID Hs.524871   
Ensembl ID ENSG00000177084   
PharmGKB ID PA277   

mRNA Information


mRNA ID ?NM_006231.3
Exon join(1..271,6246..6387,6838..6918,7303..7347,7479..7571, 7874..8028,9806..9947,10082..10162,10872..10979, 11321..11431,11705..11790,12008..12127,13818..13950, 14248..14361,14686..14898,15203..15310,18586..18714, 18788..18890,19023..19169,19877..20022,22075..22223, 23063..23155,23377..23521,25841..25998,26361..26556, 28016..28230,29555..29657,30096..30176,30267..30389, 37636..37848,38010..38219,38453..38596,43548..43688, 43965..44118,44195..44301,44529..44705,44796..45019, 45128..45348,45674..45878,48227..48400,49386..49511, 51501..51633,53147..53339,54730..54861,55017..55210, 61208..61408,61755..61880,62531..62620,62715..63763)  
mRNA Sequence

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Length 8024  



CDS Information


   
Location 210..7070
CDS Sequence

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CCDS ID CCDS9278.1



Protein Information


      
Protein IDNP_006222.2
Protein Namepolymerase (DNA directed), epsilon, catalytic subunit
Molecular Wt. (Da)152705
Protein Sequence

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Length 2286  
Uniprot IDO14497
Ensembl Protein ID ENSP00000320485  



Post-translational Modification Information (Source : HPRD)


Residue Type site
SPhosphorylation1940;-
SPhosphorylation1201
SPhosphorylation1184

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                                                            
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
4193MDM21272NP_002383.2in vitro;yeast 2-hybrid10982879   
5111PCNA1456NP_002583.1in vitro12171929   
5422POLA12416NP_058633.2in vitro;in vivo9563011   
11073TOPBP19678NP_008958.2in vivo11395493   


Pathway Information


                                          
Pathway Name Pathway ID
Base excision repair hsa03410
DNA replication hsa03030
HTLV-I infection hsa05166
Metabolic pathways hsa01100
Nucleotide excision repair hsa03420
Purine metabolism hsa00230
Pyrimidine metabolism hsa00240


Structure Information


No matching records could be found.

Domain Information




ID Location Description
cd05535531-1153  POLBc_epsilon
cl10023531-1153  POLBc superfamily
cd05779268-471  DNA_polB_epsilon_exo
cl10012268-471  DnaQ_like_exo superfamily
pfam084901525-1925  DUF1744
cl072031525-1925  DUF1744 superfamily
cd05160271-471  DEDDy_DNA_polB_exo
cd00145614-1147  POLBc
cd05780267-469  DNA_polB_Kod1_like_exo
cd05536800-1151  POLBc_B3
cd05782271-472  DNA_polB_like1_exo
cd05532801-1096  POLBc_alpha
cd05783267-471  DNA_polB_B1_exo
cd05781267-381  DNA_polB_B3_exo
cd05777271-394  DNA_polB_delta_exo
cd05538771-1017  POLBc_Pol_II_B
pfam13482272-435  RNase_H_2
cd05785272-466  DNA_polB_like2_exo
cd05537804-1096  POLBc_Pol_II
COG041799-1165  PolB
smart00486267-870  POLBc
pfam0310486-426  DNA_pol_B_exo1
TIGR00592714-1135  pol2
pfam00136709-1062  DNA_pol_B
PRK05762790-1136  PRK05762
PRK05761732-1063  PRK05761
PTZ00166271-378  PTZ00166
pfam10108337-382  DNA_pol_B_exo2
PHA02528728-832  43


Ontology Information


   
HPRD ID4819
Molecular ClassDNA polymerase
Molecular FunctionReceptor signaling complex scaffold activity (GO:0030159)
Biological ProcessSignal transduction (GO:0007165)  



SNP Information


View SNP Geneview Report   

Drug Information


Uniprot ID DrugBank ID Name Type
Q07864DB00242CladribineSmallMoleculeDrug

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO