OGG1: 8-Oxoguanine DNA Glycosylase
Key Enzyme in Base Excision Repair of Oxidative DNA Damage
Gene Information Card
| Symbol | OGG1 |
|---|---|
| Full Name | 8-oxoguanine DNA glycosylase |
| Gene Type | Protein coding |
| Chromosomal Location | 3p25.3 |
| NCBI Gene ID | 4968 ncbi.nlm.nih.gov/gene/4968 |
| Ensembl ID | ENSG00000114026 |
| UniProt ID | O15527 |
| OMIM ID | 601982 |
| HGNC ID | 8125 |
| Aliases | HOGG1, OGH1, MUTM, DNA glycosylase/AP lyase |
Description
OGG1 encodes a DNA glycosylase that excises 8-oxoguanine, a major oxidative DNA lesion, initiating base excision repair (BER). The enzyme has both glycosylase and AP lyase activities, removing the damaged base and cleaving the DNA backbone. OGG1 is critical for maintaining genomic stability under oxidative stress and is implicated in cancer susceptibility, neurodegenerative disorders, and aging.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung Cancer | Defective OGG1 increases 8-oxoguanine accumulation, promoting G:C to T:A transversions in oncogenes/tumor suppressors. | NCBI Gene, OMIM |
| Colorectal Cancer | OGG1 polymorphisms (e.g., Ser326Cys) reduce repair capacity, linked to increased colorectal cancer risk. | ClinVar, COSMIC |
| Hereditary Cancer Syndromes | Germline OGG1 mutations predispose to multiple cancers via impaired BER. | OMIM, HGNC |
| Neurodegenerative Diseases | Oxidative DNA damage accumulation in neurons due to OGG1 deficiency contributes to Alzheimer's and Parkinson's pathology. | NCBI Gene |
| Aging | Reduced OGG1 expression correlates with accelerated cellular senescence and age-related DNA damage. | UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Liver | 9.8 | Medium |
| Kidney | 8.2 | Medium |
| Brain | 6.1 | Low |
| Heart | 5.4 | Low |
| Colon | 11.3 | Medium |
| Testis | 15.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung) | 14.2 | High expression; used in oxidative stress studies |
| HeLa (Cervical) | 10.5 | Moderate expression |
| HEK293 (Embryonic Kidney) | 9.1 | Moderate expression |
| HCT116 (Colorectal) | 12.8 | High expression |
| SH-SY5Y (Neuroblastoma) | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Ser326Cys | Missense | ~30% in East Asian populations | Reduced glycosylase activity; associated with increased cancer risk |
| Arg154His | Missense | <1% | Loss of DNA binding and catalytic activity |
| Gly308Glu | Missense | <0.5% | Impaired substrate recognition |
| c.461C>T (p.Pro154Leu) | Missense | Rare | Decreased repair efficiency |
| c.977G>A (p.Arg326Gln) | Missense | Rare | Altered enzyme kinetics |
Mutation functional classification
Loss of Function (LOF)
Ser326Cys, Arg154His, Gly308Glu reduce or abolish glycosylase activity, impairing 8-oxoguanine excision.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
Some missense variants may interfere with wild-type OGG1 dimerization, but dominant-negative effects are not firmly established.
View complete mutation data：
Gene Ontology (GO)
| • base-excision repair (GO:0006284) | • base-excision repair (GO:0006285) |
| • oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534) | • DNA N-glycosylase activity (GO:0019104) |
| • nucleoplasm (GO:0005654) | • mitochondrion (GO:0005739) |
Pathways
• Base Excision Repair (BER) – Reactome R-HSA-73929
• Oxidative Stress Induced Senescence – WikiPathways WP3932
• 8-Oxoguanine Repair – KEGG hsa03410
Protein Summary
OGG1 is a bifunctional DNA glycosylase/AP lyase that recognizes and removes 8-oxoguanine (8-oxoG), a common oxidative lesion, from DNA. The protein localizes to both the nucleus and mitochondria. It contains a helix-hairpin-helix (HhH) motif and a conserved catalytic aspartate residue. OGG1 is essential for preventing G:C to T:A transversions and maintaining genome integrity under oxidative stress. Alternative splicing produces multiple isoforms, with isoform 1a being the predominant nuclear form.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OGG1 Knockout HEK293 Cell Line | EDJ-KQ5377 | Human | 4968 | Details Get a Quote |
| OGG1 Knockout A-549 Cell Line | EDJ-KQ27276 | Human | 4968 | Details Get a Quote |
| OGG1 Knockout HCT 116 Cell Line | EDJ-KQ28515 | Human | 4968 | Details Get a Quote |
| OGG1 Knockout HeLa Cell Line | EDJ-KQ28516 | Human | 4968 | Details Get a Quote |
| OGG1 Knockout HAP1 Cell Line | EDC08081 | Human | 4968 | Details Get a Quote |
