OGG1 (8-oxoguanine DNA glycosylase)
- symbol:
- OGG1
- locus group:
- protein-coding gene
- location:
- 3p25.3
- gene_family:
- alias symbol:
- HMMH|HOGG1|OGH1|MUTM
- alias name:
- 8-hydroxyguanine DNA glycosylase|O…
- entrez id:
- 4968
- ensembl gene id:
- ENSG00000114026
- ucsc gene id:
- uc003bsj.4
- refseq accession:
- NM_016821
- hgnc_id:
- HGNC:8125
- approved reserved:
- 1997-07-22
OGG1（8-氧代鸟嘌呤DNA糖苷酶1）是一种关键的DNA修复酶，属于碱基切除修复（BER）系统中的DNA糖苷酶家族。它的主要功能是识别并切除DNA中因氧化损伤产生的8-氧代鸟嘌呤（8-oxoG），这种损伤是活性氧（ROS）攻击DNA的常见产物。8-oxoG容易与腺嘌呤错配，导致G:C到T:A的突变，因此OGG1在维持基因组稳定性中起重要作用。OGG1的作用位点主要在细胞核和线粒体，其中线粒体OGG1（由不同转录本编码）对保护线粒体DNA免受氧化损伤尤为重要。OGG1基因突变可能导致酶活性降低，使8-oxoG积累，增加癌症（如肺癌、结直肠癌）和神经退行性疾病（如阿尔茨海默病）的风险。某些OGG1多态性（如Ser326Cys）与癌症易感性相关。OGG1过表达可增强细胞对氧化损伤的抵抗，减少突变积累，但过度活跃可能干扰正常DNA代谢；而OGG1表达降低会导致8-oxoG修复缺陷，增加基因组不稳定性，加速衰老和疾病进程。OGG1属于NEIL家族（与NEIL1、NEIL2等共同组成），这类糖苷酶均能识别氧化损伤碱基，但OGG1特异性针对8-oxoG。OGG1还与其他修复蛋白（如APE1、XRCC1）协同作用，其活性受多种因素调控，包括表观遗传修饰和转录因子。在炎症和代谢疾病中，OGG1表达变化可能通过影响氧化应激反应参与病理过程。
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. [provided by RefSeq, Aug 2008]
这个基因编码负责8-羟基鸟嘌呤，它的发生是由于暴露于活性氧的结果的诱变基副产物的切除的酶。这种酶的作用包括用于链裂解酶的活性。该基因的C-末端区域的选择性剪接分类剪接变体分为两大组，1型和2型，这取决于序列的最后一个外显子。 1型替代剪接变体与外显子7和2型外显子8末端端的所有变体共享共同的N-末端区域，其包含线粒体定位信号，该信号对线粒体定位是必不可少的。对于此基因的许多替代剪接变体进行了说明，但全长性质为每个变种尚未确定。 [由RefSeq的，2008年8月提供]
基因本体信息
OGG1基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
OGG1基因的本体（GO）信息：
| 名称 |
|---|
| 3410 Base excision repair [PATH:hsa03410] |
| 名称 |
|---|
| APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway |
| Base Excision Repair |
| Base-Excision Repair, AP Site Formation |
| Cleavage of the damaged purine |
| Cleavage of the damaged pyrimidine |
| Depurination |
| Depyrimidination |
| Displacement of DNA glycosylase by APEX1 |
| DNA Repair |
| Recognition and association of DNA glycosylase with site containing an affected purine |
| Recognition and association of DNA glycosylase with site containing an affected pyrimidine |
| Resolution of Abasic Sites (AP sites) |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Renal Cell Carcinoma | 0.202995792 | 3 | 1 | BeFree_CTD_human_LHGDN_RGD |
| Lung Neoplasms | 0.137431869 | 12 | 0 | BeFree_CTD_human_LHGDN |
| Adenocarcinoma | 0.135373836 | 10 | 2 | BeFree_CTD_human_GAD_LHGDN |
| Chromosome Aberrations | 0.13183516 | 6 | 0 | CTD_human_GAD |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.129001189 | 7 | 1 | BeFree_CTD_human_GAD |
| Adenocarcinoma of lung (disorder) | 0.123995683 | 7 | 2 | BeFree_CTD_human_GAD |
| Huntington Disease | 0.123181358 | 3 | 1 | BeFree_CTD_human_GAD |
| Hyperplasia | 0.12272435 | 2 | 0 | CTD_human_LHGDN |
| Prostatic Neoplasms | 0.12272435 | 2 | 0 | CTD_human_LHGDN |
| Conventional (Clear Cell) Renal Cell Carcinoma | 0.120814326 | 3 | 1 | BeFree_CLINVAR |
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