• Gene id: 4968

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 th
• OMIM: 601982

SNPs

rs1052133

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.9757089C>G
NC_000003.12   g.9757089C>T
NC_000003.11   g.9798773C>G
NC_000003.11   g.9798773C>T
NG_012106.1   g.12146C>G
NG_012106.1   g.12146C>T
NM_002542.5   c.977C>G
NM_002542.5   c.977C>T
NM_016819.3   c.*246C>G
NM_016819.3   c.*246C>T
NM_016820.3   c.

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
• Sequence:

  MPARALLPRRMGHRTLASTPALWASIPCPRSELRLDLVLPSGQSFRWREQSPAHWSGVLADQVWTLTQTEEQLHC
  TVYRGDKSQASRPTPDELEAVRKYFQLDVTLAQLYHHWGSVDSHFQEVAQKFQGVRLLRQDPIECLFSFICSSNN
  NIARITGMVERLCQAFGPRLIQLDDVTYHGFPSLQALAGPEVEAHLRKLGLGYRARYVSASARAILEEQGGLAWL
  QQLRESSYEEAHKALCILPGVGTKVADCICLMALDKPQAVPVDVHMWHIAQRDYSWHPTTSQAKGPSPQTNKELG
  NFFRSLWGPYAGWAQAVLFSADLRQSRHAQEPPAKRRKGSKGPEG

• Structural information:
  • Interpro: IPR011257  IPR003265  IPR023170  IPR004577  IPR012904  
  • 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
• Other Databases: GeneCards:  OGG1  Malacards:  OGG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002526	acute inflammatory response	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 transcription, DNA-templated	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IGI	biological process
GO:0006979	response to oxidative stress	IDA	biological process
GO:0007568	aging	IEA	biological process
GO:0008017	microtubule binding	IEA	molecular function
GO:0008534	oxidized purine nucleobase lesion DNA N-glycosylase activity	TAS	molecular function
GO:0008534	oxidized purine nucleobase lesion DNA N-glycosylase activity	TAS	molecular function
GO:0009314	response to radiation	IDA	biological process
GO:0009416	response to light stimulus	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 binding	IDA	molecular function
GO:0033158	regulation of protein import into nucleus, translocation	IDA	biological process
GO:0033683	nucleotide-excision repair, DNA incision	IDA	biological process
GO:0034039	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity	IEA	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0043066	negative regulation of apoptotic 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 cadmium ion	IEA	biological process
GO:1901291	negative regulation of double-strand break repair via single-strand annealing	IDA	biological process
GO:0002526	acute inflammatory response	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 apyrimidinic 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 repair	IEA	biological process
GO:0006355	regulation of transcription, 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 stress	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 nucleobase lesion DNA N-glycosylase activity	IEA	molecular function
GO:0008534	oxidized purine nucleobase lesion DNA N-glycosylase activity	IEA	molecular function
GO:0008534	oxidized purine nucleobase lesion DNA N-glycosylase activity	TAS	molecular function
GO:0008534	oxidized purine nucleobase lesion DNA N-glycosylase activity	TAS	molecular function
GO:0008534	oxidized purine nucleobase lesion DNA N-glycosylase activity	TAS	molecular function
GO:0009314	response to radiation	IDA	biological process
GO:0009416	response to light stimulus	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, acting on glycosyl bonds	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0019104	DNA N-glycosylase activity	IEA	molecular function
GO:0032355	response to estradiol	IEA	biological process
GO:0032357	oxidized purine DNA binding	IDA	molecular function
GO:0033158	regulation of protein import into nucleus, translocation	IDA	biological process
GO:0033683	nucleotide-excision repair, DNA incision	IDA	biological process
GO:0034039	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity	IEA	molecular function
GO:0034039	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity	IEA	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0043066	negative regulation of apoptotic 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 cadmium ion	IEA	biological process
GO:1901291	negative regulation of double-strand break repair via single-strand annealing	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 transcription, DNA-templated	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IGI	biological process
GO:0006979	response to oxidative stress	IDA	biological process
GO:0008534	oxidized purine nucleobase lesion DNA N-glycosylase activity	TAS	molecular function
GO:0008534	oxidized purine nucleobase lesion DNA N-glycosylase activity	TAS	molecular function
GO:0008534	oxidized purine nucleobase lesion DNA N-glycosylase 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 binding	IDA	molecular function
GO:0033158	regulation of protein import into nucleus, translocation	IDA	biological process
GO:0033683	nucleotide-excision repair, 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 double-strand break repair via single-strand annealing	IDA	biological process

Diseases

Associated diseases	References
Mesothelioma	GAD: 16564556
Cancer (Adenocarcinoma)	GAD: 12164330
Cancer (Adenoma)	GAD: 18515411
Cancer (oral)	GAD: 17207658
Cancer (ovarian)	GAD: 16211227
Cancer (pancreatic)	GAD: 11719088
Cancer (prostate)	GAD: 11956079
Cancer (Squamous cell)	GAD: 19826048
Cancer (stomach)	GAD: 11992556
Angiomyolipoma	GAD: 17932460
Cancer	GAD: 20054639
Cancer (Aerodigestive tract)	GAD: 17040931
Cancer (bladder)	GAD: 15667866
Cancer (brain)	GAD: 20150366
Cancer (cervical)	GAD: 15990162
Cancer (colon)	GAD: 12717837
Cancer (colorectal)	GAD: 15931596
Cancer (esophageal)	GAD: 12883749
Cancer (gastric)	GAD: 11448535
Cancer (head and neck)	GAD: 20819778
Cancer (Hematologic)	GAD: 20226869
Cancer (Hepatocellular)	GAD: 14562375
Cancer (laryngeal)	GAD: 18393249
Cancer (leiomyoma)	GAD: 19176223
Cancer (lung)	GAD: 16195237
Cancer (lymphoma)	GAD: 17149600
Cancer (non-Hodgkin lymphoma)	GAD: 16543247
Cancer (breast)	GAD: 16492928
Cardiovascular disease	GAD: 20667409
Cystic fibrosis	GAD: 20140303
Neural tube defects	GAD: 15887293
Cleft defects	GAD: 20634891
Pterygium	GAD: 14716324
Multiple sclerosis	GAD: 20522537
Insulin resistance	GAD: 20391347
Diabetes	GAD: 19486888
Chronic progressive chorea	GAD: 20512606
Parkinson disease	GAD: 20193742
Amyotrophic lateral sclerosis (ALS)	GAD: 17531381
Alzheimer's disease	GAD: 17240059
Psychological disorders	GAD: 14716324
Male factor infertility	MIK: 25029857
Endometriosis	GAD: 20391347
Chronic obstructive pulmonary disease (COPD)	GAD: 19493423
Pulmonary disease	GAD: 19493423
Atrophy	GAD: 18366059
Barrett's esophagus	GAD: 20056743
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 25029857
Varicocoele, Male infertility	MIK: 29582449

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25029857	Male infertility	OGG1 326 Cys/Cys	Chinese	1005 (620 idiopathic infertile patients, 385 normal fertile controls)	Male infertility
29582449	Varicocoele, Male infertility	S326C	Taiwane se	170 (90 young male patients with varicocoele, 50 young male patients with subclinical varicocele, 30 normal young male patients without varicocele)	Male infertility
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq