Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol OGG1 contributors: mct/pgu - updated : 07-11-2014
HGNC name 8-oxoguanine DNA glycosylase
HGNC id 8125
Location 3p25.3      Physical location : 9.791.627 - 9.808.352
Synonym name
  • DNA-apurinic or apyrimidinic site lyase
  • OGG1 type 1d
  • OGG1 type 1e
  • OGG1 type 1g
  • OGG1 type 1h
  • AP lyase
  • N-glycosylase/DNA lyase
  • Synonym symbol(s) MMH, HOGG1, OCH1, MUTM, HMMH, OGH1
    EC.number 4.2.99.18
    DNA
    TYPE functioning gene
    STRUCTURE 16.73 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map pter - VHL VHL - OGG1 - D3S1263 - D3S1583 - D3S2350 - D3S1561 - D3S3564 - D3S1313 - D3S1566 - D3S2372 - cen
    Authors Ishida (99)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1652 38.7 345 nuclear 1997 9223305
    6 splicing 1896 - 324 nuclear 1997 9223305
    6 splicing 1669 - 410 nuclear 1997 9223305
    7 splicing 2158 47 424 mitochondrial 1997 9223305
    5 splicing 1957 - 357 nuclear 1997 9223305
    4 splicing 1775 - 195 nuclear 1997 9223305
    8 splicing 2258 - 356 nuclear 1997 9223305
    8 splicing 2211 - 322 nuclear 1997 9223305
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus   highly
    Digestiveesophagus    
     mouthtongue (see gustatory)   
    Lymphoid/Immunetonsils    
    Nervousbrainmidbrain  highly Danio rerioFetal
    Respiratoryrespiratory tractlarynx   
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period
    cell cycle     cell cycle, interphase
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal mitochondrial targeting signal helix hairpin helix motif
  • a glycine/proline-rich loop, characteristic of glycosylases
  • HOMOLOGY
    interspecies ortholog to yeast OGG1
    intraspecies homolog to HhH-GPD family of BER pathway
    Homologene
    FAMILY
  • E.coli Nth family
  • type-1 OGG1 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    intracellular,nucleus,chromatin/chromosome
    text associated with the chromatin and the nuclear matrix during interphase and condensed chromatin during mitosis
    basic FUNCTION
  • 8oxo-7, 8-dihydroxyguanine and oxidized pyrimidines-DNA glycosylase/apurinic, apyrimidic lyase
  • involved in the repair of oxidative DNA damage and in carcinogenesis (in lung cancer cells)
  • may be playing an important role in the repair of 8-OH-dG adducts in the aerodigestive tract
  • key component of the DNA base excision repair pathway, catalysing the removal of 8-oxoguanine nucleotides from DNA, thereby suppressing mutagenesis and cell death
  • potential role in maintaining genomic stability in mammalian cells after oxidative stress
  • major DNA glycosylase involved in base-excision repair (BER) of oxidative DNA damage to nuclear and mitochondrial DNA (mtDNA)
  • has a pivotal role in repairing oxidative damage to nuclear DNA under ischemic conditions, thereby reducing brain damage and improving functional outcome
  • OGG1 binding to PARP1 plays a functional role in the repair of oxidative DNA damage
  • central role for OGG1 in regulating DNA repair in cardiomyopathy
  • DNA glycosylases OGG1 and NEIL3 influence differentiation potential, proliferation, and senescence-associated signs in neural stem cells
  • is a bifunctional glycosylase/apurinic-apyrimidinic lyase that hydrolyzes the N-glycosidic bond and subsequently cleaves the sugar-phosphate backbone 3&
  • 8242; to an apurinic/apyrimidinic (AP) site
  • can efficiently repair the lesion even in a purine-rich sequence, i.e. CpG island promoter region, suppressing mutations in the human genome
  • involved in truncated base excision repair pathway in human spermatozoa
  • interaction of SIRT3 with OGG1 contributes to repair of mitochondrial DNA and protects from apoptotic cell death under oxidative stress
  • repair enzyme OGG1 initiates the highly conserved base-excision repair pathway
  • fundamentally required for protecting the developing brain, which may be helpful in understanding the aetiology of congenital brain deficits
  • OGG1 overexpression may be an important mechanism to protect cardiac cells against oxidative stress damage
  • role for OGG1 and ACO2 in preserving alveolar epithelial cell (AEC) mtDNA integrity, thereby preventing oxidant-induced mitochondrial dysfunction, TP53 mitochondrial translocation, and intrinsic apoptosis
  • CELLULAR PROCESS nucleotide, repair, base excision repair
    PHYSIOLOGICAL PROCESS
    text repair in nontranscribed sequences only, base excision repair
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with RAD52 (interaction has reciprocal functional consequences as OGG1 inhibits RAD52 catalytic activities and RAD52 stimulates OGG1 incision activity, likely increasing its turnover rate)
  • ERCC6 protects CAG repeats from expansion by either active reduction of the tract length during parent-child transmission, or by antagonizing the action of OGG1, which tends to promote expansion in somatic cells
  • interaction between OGG1 and PARP1, a DNA-damage sensor protein involved in DNA repair and many other cellular processes
  • cell & other
    REGULATION
    inhibited by nitric oxide
    repressed by RUNX1-ETO fusion protein in normal hematopoietic progenitor cells and in patients with AML
    Other regulated by ERCC6
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       gain of function
    in lung cancer with 3p del (affect prognosis)
    tumoral   LOH    
    in lung tumors
    constitutional       loss of function
    in amyotophic lateral sclerosis ,impairing oxidative damage repair and leading to a loss of motor neurons
    tumoral        
    is associated with features of aggressive breast cancer
    Susceptibility
  • lung cancer in Caucasian population
  • smoking- and alcohol-related orolaryngeal cancer
  • sporadic colorectal cancer
  • to Alzheimer disease
  • Variant & Polymorphism
  • Ser326Cys polymorphism plays an important role in risk for smoking- and alcohol-related orolaryngeal cancer
  • R154H polymorphism associated with sporadic colorectal cancer
  • Candidate gene
  • OGG1 expressing patients have a worse relapse-free survival and overall survival and an increased risk of relapse at 5-years of follow-up
  • prognostic marker that could be used to sub-stratify AML patients to predict those likely to fail conventional chemotherapies but those likely to benefit from novel therapeutic approaches that modulate DNA repair activity
  • Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Ogg1-/- mouse cells did not display spontaneous chromosomal abnormalities, e.g. chromosome breaks or fragments