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FLASH GENE

Symbol

OGG1

contributors: mct/pgu - updated : 07-11-2014

HGNC name	8-oxoguanine DNA glycosylase
HGNC id	8125

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	3p25.3      Physical location : 9.791.627 - 9.808.352
Synonym name	DNA-apurinic or apyrimidinic site lyase
	OGG1 type 1d
	OGG1 type 1e
	OGG1 type 1g
	OGG1 type 1h
	AP lyase
	N-glycosylase/DNA lyase
Synonym symbol(s)	MMH, HOGG1, OCH1, MUTM, HMMH, OGH1
EC.number	4.2.99.18

DNA

TYPE	functioning gene
STRUCTURE	16.73 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - VHL VHL - OGG1 - D3S1263 - D3S1583 - D3S2350 - D3S1561 - D3S3564 - D3S1313 - D3S1566 - D3S2372 - cen
Authors	Ishida (99)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002542 7 - 1652 NP_002533 38.7 345 nuclear 1997 9223305 NM_016819 6 splicing 1896 NP_058212 - 324 nuclear 1997 9223305 NM_016820 6 splicing 1669 NP_058213 - 410 nuclear 1997 9223305 NM_016821 7 splicing 2158 NP_058214 47 424 mitochondrial 1997 9223305 NM_016826 5 splicing 1957 NP_058434 - 357 nuclear 1997 9223305 NM_016827 4 splicing 1775 NP_058436 - 195 nuclear 1997 9223305 NM_016828 8 splicing 2258 NP_058437 - 356 nuclear 1997 9223305 NM_016829 8 splicing 2211 NP_058438 - 322 nuclear 1997 9223305

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic thymus       highly Digestive esophagus           mouth tongue (see gustatory)       Lymphoid/Immune tonsils         Nervous brain midbrain     highly Danio rerio Fetal Respiratory respiratory tract larynx       Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

cell cycle

cell cycle, interphase

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal mitochondrial targeting signal helix hairpin helix motif
	a glycine/proline-rich loop, characteristic of glycosylases

HOMOLOGY

interspecies

ortholog to yeast OGG1

intraspecies

homolog to HhH-GPD family of BER pathway

Homologene

FAMILY	E.coli Nth family
	type-1 OGG1 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
	intracellular,nucleus,chromatin/chromosome
text	associated with the chromatin and the nuclear matrix during interphase and condensed chromatin during mitosis

basic FUNCTION	8oxo-7, 8-dihydroxyguanine and oxidized pyrimidines-DNA glycosylase/apurinic, apyrimidic lyase
	involved in the repair of oxidative DNA damage and in carcinogenesis (in lung cancer cells)
	may be playing an important role in the repair of 8-OH-dG adducts in the aerodigestive tract
	key component of the DNA base excision repair pathway, catalysing the removal of 8-oxoguanine nucleotides from DNA, thereby suppressing mutagenesis and cell death
	potential role in maintaining genomic stability in mammalian cells after oxidative stress
	major DNA glycosylase involved in base-excision repair (BER) of oxidative DNA damage to nuclear and mitochondrial DNA (mtDNA)
	has a pivotal role in repairing oxidative damage to nuclear DNA under ischemic conditions, thereby reducing brain damage and improving functional outcome
	OGG1 binding to PARP1 plays a functional role in the repair of oxidative DNA damage
	central role for OGG1 in regulating DNA repair in cardiomyopathy
	DNA glycosylases OGG1 and NEIL3 influence differentiation potential, proliferation, and senescence-associated signs in neural stem cells
	is a bifunctional glycosylase/apurinic-apyrimidinic lyase that hydrolyzes the N-glycosidic bond and subsequently cleaves the sugar-phosphate backbone 3&
	8242; to an apurinic/apyrimidinic (AP) site
	can efficiently repair the lesion even in a purine-rich sequence, i.e. CpG island promoter region, suppressing mutations in the human genome
	involved in truncated base excision repair pathway in human spermatozoa
	interaction of SIRT3 with OGG1 contributes to repair of mitochondrial DNA and protects from apoptotic cell death under oxidative stress
	repair enzyme OGG1 initiates the highly conserved base-excision repair pathway
	fundamentally required for protecting the developing brain, which may be helpful in understanding the aetiology of congenital brain deficits
	OGG1 overexpression may be an important mechanism to protect cardiac cells against oxidative stress damage
	role for OGG1 and ACO2 in preserving alveolar epithelial cell (AEC) mtDNA integrity, thereby preventing oxidant-induced mitochondrial dysfunction, TP53 mitochondrial translocation, and intrinsic apoptosis

CELLULAR PROCESS

nucleotide, repair, base excision repair

PHYSIOLOGICAL PROCESS

text	repair in nontranscribed sequences only, base excision repair

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with RAD52 (interaction has reciprocal functional consequences as OGG1 inhibits RAD52 catalytic activities and RAD52 stimulates OGG1 incision activity, likely increasing its turnover rate)
	ERCC6 protects CAG repeats from expansion by either active reduction of the tract length during parent-child transmission, or by antagonizing the action of OGG1, which tends to promote expansion in somatic cells
	interaction between OGG1 and PARP1, a DNA-damage sensor protein involved in DNA repair and many other cellular processes

cell & other

REGULATION

inhibited by

nitric oxide

repressed by

RUNX1-ETO fusion protein in normal hematopoietic progenitor cells and in patients with AML

Other

regulated by ERCC6

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       gain of function in lung cancer with 3p del (affect prognosis) tumoral   LOH     in lung tumors constitutional       loss of function in amyotophic lateral sclerosis ,impairing oxidative damage repair and leading to a loss of motor neurons tumoral         is associated with features of aggressive breast cancer

Susceptibility

lung cancer in Caucasian population smoking- and alcohol-related orolaryngeal cancer sporadic colorectal cancer to Alzheimer disease

Variant & Polymorphism	Ser326Cys polymorphism plays an important role in risk for smoking- and alcohol-related orolaryngeal cancer
	R154H polymorphism associated with sporadic colorectal cancer

Candidate gene	OGG1 expressing patients have a worse relapse-free survival and overall survival and an increased risk of relapse at 5-years of follow-up
	prognostic marker that could be used to sub-stratify AML patients to predict those likely to fail conventional chemotherapies but those likely to benefit from novel therapeutic approaches that modulate DNA repair activity
Marker
Therapy target

ANIMAL & CELL MODELS

Ogg1-/- mouse cells did not display spontaneous chromosomal abnormalities, e.g. chromosome breaks or fragments