OGG1

This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined.

Full Name

OGG1

Function

DNA repair enzyme that incises DNA at 8-oxoG residues. Excises 7,8-dihydro-8-oxoguanine and 2,6-diamino-4-hydroxy-5-N-methylformamidopyrimidine (FAPY) from damaged DNA. Has a beta-lyase activity that nicks DNA 3' to the lesion.

Biological Process

Acute inflammatory responseIEA:Ensembl
AgingIEA:Ensembl
Base-excision repairManual Assertion Based On ExperimentTAS:ProtInc
Base-excision repair, AP site formationManual Assertion Based On ExperimentIBA:GO_Central
Cellular response to cadmium ionIEA:Ensembl
Cellular response to DNA damage stimulusManual Assertion Based On ExperimentIGI:MGI
DepurinationTAS:Reactome
DepyrimidinationTAS:Reactome
Negative regulation of apoptotic processIEA:Ensembl
Negative regulation of double-strand break repair via single-strand annealingManual Assertion Based On ExperimentIDA:MGI
Nucleotide-excision repair, DNA incisionManual Assertion Based On ExperimentIDA:MGI
Regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIMP:UniProtKB
Response to estradiolIEA:Ensembl
Response to ethanolIEA:Ensembl
Response to folic acidIEA:Ensembl
Response to light stimulusIEA:Ensembl
Response to oxidative stressManual Assertion Based On ExperimentIDA:UniProtKB
Response to radiationManual Assertion Based On ExperimentIDA:UniProtKB
Response to xenobiotic stimulusIEA:Ensembl

Cellular Location

Nucleus, nucleoplasm
Nucleus speckle
Nucleus matrix
Together with APEX1 is recruited to nuclear speckles in UVA-irradiated cells.
Isoform 1A
Nucleus
Isoform 2A
Mitochondrion

Involvement in disease

Renal cell carcinoma (RCC):
Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype.