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Gene id

4968

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

OGG1 Gene UCSC Ensembl

Aliases

HMMH, HOGG1, MUTM, OGH1

Gene name

8-oxoguanine DNA glycosylase

Alternate names

N-glycosylase/DNA lyase, 8-hydroxyguanine DNA glycosylase, AP lyase, DNA-apurinic or apyrimidinic site lyase, OGG1 type 1f,

Gene location

3p25.3 (9749943: 9788245) Exons: 12 NC_000003.12

Gene summary(Entrez)

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]

OMIM

601982

Protein Summary

Protein general information

O15527

Name: N-glycosylase/DNA lyase [Includes: 8-oxoguanine DNA glycosylase (EC 3.2.2.-); DNA-(apurinic or apyrimidinic site) lyase (AP lyase) (EC 4.2.99.18)]

Length: 345 Mass: 38,782

Tissue specificity: Ubiquitous.

Sequence

MPARALLPRRMGHRTLASTPALWASIPCPRSELRLDLVLPSGQSFRWREQSPAHWSGVLADQVWTLTQTEEQLHC
TVYRGDKSQASRPTPDELEAVRKYFQLDVTLAQLYHHWGSVDSHFQEVAQKFQGVRLLRQDPIECLFSFICSSNN
NIARITGMVERLCQAFGPRLIQLDDVTYHGFPSLQALAGPEVEAHLRKLGLGYRARYVSASARAILEEQGGLAWL
QQLRESSYEEAHKALCILPGVGTKVADCICLMALDKPQAVPVDVHMWHIAQRDYSWHPTTSQAKGPSPQTNKELG
NFFRSLWGPYAGWAQAVLFSADLRQSRHAQEPPAKRRKGSKGPEG

Structural information

Interpro:	IPR011257 IPR003265 IPR023170 IPR004577 IPR012904
Pfam:	PF00730 PF07934
CDD:	cd00056
PDB:	1EBM 1FN7 1HU0 1KO9 1LWV 1LWW 1LWY 1M3H 1M3Q 1N39 1N3A 1N3C 1YQK 1YQL 1YQM 1YQR 2I5W 2NOB 2NOE 2NOF 2NOH 2NOI 2NOL 2NOZ 2XHI 3IH7 3KTU 5AN4
PDBsum:	1EBM 1FN7 1HU0 1KO9 1LWV 1LWW 1LWY 1M3H 1M3Q 1N39 1N3A 1N3C 1YQK 1YQL 1YQM 1YQR 2I5W 2NOB 2NOE 2NOF 2NOH 2NOI 2NOL 2NOZ 2XHI 3IH7 3KTU 5AN4
MINT:

Other Databases

GeneCards: OGG1; Malacards: OGG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002526	acute inflammatory respon se	IEA	biological_process
GO:0003684	damaged DNA binding	IDA	molecular_function
GO:0004519	endonuclease activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005739	mitochondrion	IEA	cellular_component
GO:0006284	base-excision repair	TAS	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IMP	biological_process
GO:0006974	cellular response to DNA damage stimulus	IGI	biological_process
GO:0006979	response to oxidative str ess	IDA	biological_process
GO:0007568	aging	IEA	biological_process
GO:0008017	microtubule binding	IEA	molecular_function
GO:0008534	oxidized purine nucleobas e lesion DNA N-glycosylas e activity	TAS	molecular_function
GO:0008534	oxidized purine nucleobas e lesion DNA N-glycosylas e activity	TAS	molecular_function
GO:0009314	response to radiation	IDA	biological_process
GO:0009416	response to light stimulu s	IEA	biological_process
GO:0016363	nuclear matrix	IDA	cellular_component
GO:0016607	nuclear speck	IDA	cellular_component
GO:0032355	response to estradiol	IEA	biological_process
GO:0032357	oxidized purine DNA bindi ng	IDA	molecular_function
GO:0033158	regulation of protein imp ort into nucleus, translo cation	IDA	biological_process
GO:0033683	nucleotide-excision repai r, DNA incision	IDA	biological_process
GO:0034039	8-oxo-7,8-dihydroguanine DNA N-glycosylase activit y	IEA	molecular_function
GO:0042493	response to drug	IEA	biological_process
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0043234	protein complex	IDA	cellular_component
GO:0045007	depurination	TAS	biological_process
GO:0045007	depurination	TAS	biological_process
GO:0045008	depyrimidination	TAS	biological_process
GO:0045008	depyrimidination	TAS	biological_process
GO:0045471	response to ethanol	IEA	biological_process
GO:0051593	response to folic acid	IEA	biological_process
GO:0071276	cellular response to cadm ium ion	IEA	biological_process
GO:1901291	negative regulation of do uble-strand break repair via single-strand anneali ng	IDA	biological_process
GO:0002526	acute inflammatory respon se	IEA	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003684	damaged DNA binding	IEA	molecular_function
GO:0003684	damaged DNA binding	IEA	molecular_function
GO:0003684	damaged DNA binding	IDA	molecular_function
GO:0003684	damaged DNA binding	TAS	molecular_function
GO:0003824	catalytic activity	IEA	molecular_function
GO:0003824	catalytic activity	IEA	molecular_function
GO:0003906	DNA-(apurinic or apyrimid inic site) lyase activity	IEA	molecular_function
GO:0004519	endonuclease activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	IEA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005739	mitochondrion	IEA	cellular_component
GO:0006281	DNA repair	IEA	biological_process
GO:0006281	DNA repair	IEA	biological_process
GO:0006281	DNA repair	IEA	biological_process
GO:0006284	base-excision repair	IEA	biological_process
GO:0006284	base-excision repair	IEA	biological_process
GO:0006284	base-excision repair	TAS	biological_process
GO:0006289	nucleotide-excision repai r	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IMP	biological_process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological_process
GO:0006974	cellular response to DNA damage stimulus	IGI	biological_process
GO:0006979	response to oxidative str ess	IDA	biological_process
GO:0007568	aging	IEA	biological_process
GO:0008017	microtubule binding	IEA	molecular_function
GO:0008152	metabolic process	IEA	biological_process
GO:0008534	oxidized purine nucleobas e lesion DNA N-glycosylas e activity	IEA	molecular_function
GO:0008534	oxidized purine nucleobas e lesion DNA N-glycosylas e activity	IEA	molecular_function
GO:0008534	oxidized purine nucleobas e lesion DNA N-glycosylas e activity	TAS	molecular_function
GO:0008534	oxidized purine nucleobas e lesion DNA N-glycosylas e activity	TAS	molecular_function
GO:0008534	oxidized purine nucleobas e lesion DNA N-glycosylas e activity	TAS	molecular_function
GO:0009314	response to radiation	IDA	biological_process
GO:0009416	response to light stimulu s	IEA	biological_process
GO:0016363	nuclear matrix	IEA	cellular_component
GO:0016363	nuclear matrix	IDA	cellular_component
GO:0016607	nuclear speck	IEA	cellular_component
GO:0016607	nuclear speck	IDA	cellular_component
GO:0016787	hydrolase activity	IEA	molecular_function
GO:0016798	hydrolase activity, actin g on glycosyl bonds	IEA	molecular_function
GO:0016829	lyase activity	IEA	molecular_function
GO:0019104	DNA N-glycosylase activit y	IEA	molecular_function
GO:0032355	response to estradiol	IEA	biological_process
GO:0032357	oxidized purine DNA bindi ng	IDA	molecular_function
GO:0033158	regulation of protein imp ort into nucleus, translo cation	IDA	biological_process
GO:0033683	nucleotide-excision repai r, DNA incision	IDA	biological_process
GO:0034039	8-oxo-7,8-dihydroguanine DNA N-glycosylase activit y	IEA	molecular_function
GO:0034039	8-oxo-7,8-dihydroguanine DNA N-glycosylase activit y	IEA	molecular_function
GO:0042493	response to drug	IEA	biological_process
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0043234	protein complex	IDA	cellular_component
GO:0045007	depurination	TAS	biological_process
GO:0045007	depurination	TAS	biological_process
GO:0045008	depyrimidination	TAS	biological_process
GO:0045008	depyrimidination	TAS	biological_process
GO:0045471	response to ethanol	IEA	biological_process
GO:0051593	response to folic acid	IEA	biological_process
GO:0071276	cellular response to cadm ium ion	IEA	biological_process
GO:1901291	negative regulation of do uble-strand break repair via single-strand anneali ng	IDA	biological_process
GO:0003684	damaged DNA binding	IDA	molecular_function
GO:0003684	damaged DNA binding	TAS	molecular_function
GO:0004519	endonuclease activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0006284	base-excision repair	TAS	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IMP	biological_process
GO:0006974	cellular response to DNA damage stimulus	IGI	biological_process
GO:0006979	response to oxidative str ess	IDA	biological_process
GO:0008534	oxidized purine nucleobas e lesion DNA N-glycosylas e activity	TAS	molecular_function
GO:0008534	oxidized purine nucleobas e lesion DNA N-glycosylas e activity	TAS	molecular_function
GO:0008534	oxidized purine nucleobas e lesion DNA N-glycosylas e activity	TAS	molecular_function
GO:0009314	response to radiation	IDA	biological_process
GO:0016363	nuclear matrix	IDA	cellular_component
GO:0016607	nuclear speck	IDA	cellular_component
GO:0032357	oxidized purine DNA bindi ng	IDA	molecular_function
GO:0033158	regulation of protein imp ort into nucleus, translo cation	IDA	biological_process
GO:0033683	nucleotide-excision repai r, DNA incision	IDA	biological_process
GO:0043234	protein complex	IDA	cellular_component
GO:0045007	depurination	TAS	biological_process
GO:0045007	depurination	TAS	biological_process
GO:0045008	depyrimidination	TAS	biological_process
GO:0045008	depyrimidination	TAS	biological_process
GO:1901291	negative regulation of do uble-strand break repair via single-strand anneali ng	IDA	biological_process

KEGG pathways

hsa03410 Base excision repair

Diseases

Associated diseases	References
Upper aerodigestive tract cancer	GAD17040931
Stomach cancer	GAD11992556
Pterygium	GAD20577654
Prostate cancer	GAD11956079
Precursor Cell Lymphoblastic Leukemia-Lymphoma	GAD20364408
Parkinson's disease	GAD20193742
Pancreatic cancer	GAD11719088
Ovarian cancer	GAD16211227
Oral cancer	GAD17207658
Adenomatous Polyposis Coli	GAD18091433
Angiomyolipoma	GAD17932460
Non-Hodgkin lymphoma	GAD16543247
Neoplasms	GAD18825991
Multiple sclerosis	GAD20522537
Adenoma	GAD20534734
Mesothelioma	GAD16564556
Lymphoma	GAD17149600
Lung cancer	GAD16195237
Leiomyoma	GAD19176223
Hematologic cancer	GAD20226869
Hematologic cancer	GAD14562375
Head and Neck Neoplasms	GAD20819778
Gastrointestinal cancer	GAD18713157
Gastric cancer	GAD11448535
Esophageal cancer	GAD11307145
Esophageal cancer	GAD21134244
Esophageal cancer	GAD20069464
Esophageal cancer	GAD19339270
Esophageal cancer	GAD11110971
Esophageal cancer	GAD12883749
Endometriosis	GAD20391347
Diabetes	GAD20628086
Cystic fibrosis	GAD20140303
Coronary artery disease	GAD20667409
Colorectal cancer	GAD15931596
Colonic Neoplasms	GAD12717837
Cleft lip with cleft palate	GAD15887293
Cleft Lip	GAD20634891
Chronic progressive chorea	GAD20512606
Chronic obstructive pulmonary disease (COPD)	GAD17207022
Adenocarcinoma	GAD18349297
Chronic obstructive pulmonary disease (COPD)	GAD19493423
Cervical Neoplasm	GAD15990020
Cervical intraepithelial neoplasia	GAD19012493
Cervical cancer	GAD15990162
Carcinoma	GAD19826048
Cancer	GAD17177211
Amyotrophic lateral sclerosis	GAD17531381
Breast cancer	GAD17922186
Breast cancer	GAD16614128
Breast cancer	GAD12582029
Breast cancer	GAD12779082
Breast cancer	GAD20496165
Breast cancer	GAD20183911
Breast cancer	GAD20140625
Breast cancer	GAD20054639
Breast cancer	GAD19962393
Breast cancer	GAD20058067
Breast cancer	GAD19936841
Breast cancer	GAD18977234
Breast cancer	GAD16492928
Brain Neoplasms	GAD20150366
Adenocarcinoma	GAD12164330
Bladder cancer	GAD15667866
Biliary Tract Neoplasms	GAD17984110
Barrett's esophagus	GAD20056743
Atrophy	GAD18366059
Alzheimer's disease	GAD17240059
Renal cell carcinoma	OMIM144700
Endometriosis	PubMed23287096

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
23287096	Endometrio sis			44 (14 stage I/ II endometriosi s, 16 stage III /IV endometrios is, 14 controls )			Show abstract