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FLASH GENE
Symbol POLE contributors: mct - updated : 23-11-2015
HGNC name polymerase (DNA directed), epsilon
HGNC id 9177
Corresponding disease
FILS facial dysmorphism, immunodeficiency, livedo, and short stature
Location 12q24.33      Physical location : 133.200.347 - 133.263.945
Synonym symbol(s) POLE1, CRCS12, FILS
EC.number 2.7.7.7
DNA
TYPE functioning gene
SPECIAL FEATURE head to head
text head to head orientation with PXMP2
STRUCTURE 63.71 kb     49 Exon(s)
10 Kb 5' upstream gene genomic sequence study
text structure a common basic element of two independently regulated promoters of POLE and PXMP2
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
text with three alternatively spliced isoforms,differing in their 5' terminal sequences and in the N terminal region (Huang)
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
49 splicing 7859 - 2286 - 1999 10366722
- splicing 6900 261.5 2286 - 1999 10366722
- splicing - - 2243 - 1999 10366722
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticthymus   highly
Endocrinepancreas    
Nervousbrain    
Reproductivemale systemprostate   
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Connectivebone   
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
Lymphoid    
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal domain with DNA polymerase activity
  • a C terminal domain regulating the catalytic activities and complexing subunits B and C
  • HOMOLOGY
    interspecies homolog to murine Pole
    homolog to C.elegans F33h2.5
    Homologene
    FAMILY DNA polymerase type-B family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • catalytic subunit with an intrinsic editing exonuclease activity
  • is a likely source of ribonucleotides in human genomic DNA
  • its primary function is to synthesize DNA at the leading strand during replication
  • is also involved in a wide variety of fundamental cellular processes, including cell cycle progression and DNA repair/recombination
  • CELLULAR PROCESS nucleotide, replication
    nucleotide, repair
    PHYSIOLOGICAL PROCESS
    text nuclear genome
    PATHWAY
    metabolism
    signaling
    a component composed of two subunits (258 kDa and 55 kDa)
    INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
    zinc Zn2+
    protein
  • MDM2 by its C terminus
  • association of CHTF8-RFC1 with POLE at defective replication forks is a key step in activation of the S-phase checkpoint
  • CHTF8-RFC1 appears to be involved in leading-strand DNA synthesis through its interaction with POLE, and can load PCNA onto DNA when POLE is not in DNA synthesis mode to restore DNA synthesis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FILS
    Susceptibility to colorectal adenomas and carcinomas
    Variant & Polymorphism other POLE p.Leu424Val associated to colorectal adenomas and carcinomas
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS