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OGG1 K249Q [nucleoplasm]
Stable Identifier
R-HSA-9663725
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
OGG1 Lys249Gln
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of DNA repair (Homo sapiens)
Diseases of Base Excision Repair (Homo sapiens)
Defective Base Excision Repair Associated with OGG1 (Homo sapiens)
Defective OGG1 Substrate Processing (Homo sapiens)
Defective OGG1 mutants do not excise 8-oxoguanine (Homo sapiens)
OGG1 mutants:(8oxoG:Cyt)-dsDNA [nucleoplasm] (Homo sapiens)
OGG1 mutants (8oxoG hydrolysis) [nucleoplasm] (Homo sapiens)
OGG1 K249Q [nucleoplasm] (Homo sapiens)
Literature References
PubMed ID
Title
Journal
Year
9331411
The critical active-site amine of the human 8-oxoguanine DNA glycosylase, hOgg1: direct identification, ablation and chemical reconstitution
Lane, WS
,
Nash, HM
,
Verdine, GL
,
Lu, R
Chem. Biol.
1997
External Reference Information
External Reference
UniProt:O15527 OGG1
Gene Names
OGG1, MMH, MUTM, OGH1
Chain
chain:1-345
Reference Genes
BioGPS Gene:4968 OGG1
COSMIC (genes):OGG1 OGG1
CTD Gene:4968 OGG1
dbSNP Gene:4968 OGG1
ENSEMBL:ENSG00000114026 OGG1
HGNC:8125 OGG1
KEGG:hsa:4968 OGG1
Monarch:4968 OGG1
NCBI Gene:4968 OGG1
OMIM:601982 OGG1
UCSC:O15527 OGG1
Reference Transcript
RefSeq:NM_016820.3 OGG1
RefSeq:NM_016829.2 OGG1
RefSeq:NM_002542.5 OGG1
RefSeq:NM_016821.2 OGG1
RefSeq:NM_016827.2 OGG1
RefSeq:NM_016819.3 OGG1
RefSeq:NM_016828.2 OGG1
RefSeq:NM_016826.2 OGG1
Participates
as a member of
OGG1 mutants (8oxoG hydrolysis) [nucleoplasm] (Homo sapiens)
Other forms of this molecule
OGG1 [nucleoplasm]
OGG1 R131G [nucleoplasm]
OGG1 R46L [nucleoplasm]
OGG1 P266fs*139 [nucleoplasm]
OGG1 R131Q [nucleoplasm]
OGG1 R229Q [nucleoplasm]
OGG1 R46Q [nucleoplasm]
OGG1 R154H [nucleoplasm]
OGG1 D268N [nucleoplasm]
SOH-C326-OGG1 S326C [nucleoplasm]
OGG1 D268A [nucleoplasm]
OGG1 S326C [nucleoplasm]
OGG1 A288V [nucleoplasm]
OGG1 A53T [nucleoplasm]
Modified Residues
Name
L-lysine 249 replaced with L-glutamine
Coordinate
249
PsiMod
L-glutamine residue [MOD:00016]
A protein modification that effectively converts a source amino acid residue to an L-glutamine.
L-lysine removal [MOD:01642]
A protein modification that effectively removes or replaces an L-lysine.
Disease
Name
Identifier
Synonyms
genetic disease
DOID:630
Cross References
Guide to Pharmacology - Targets
3060
ClinGen
CA351713750
OpenTargets
ENSG00000114026
ENSEMBL
ENSP00000306561
,
ENSG00000114026
,
ENSP00000344899
,
ENSP00000305584
,
ENSP00000305527
,
ENST00000339511
,
ENSP00000342851
,
ENSP00000345520
,
ENST00000352937
,
ENST00000302008
,
ENSP00000373337
,
ENST00000449570
,
ENSP00000403598
,
ENST00000383826
,
ENST00000344629
,
ENST00000302036
,
ENST00000302003
IntEnz
4.2.99.18
GeneCards
OGG1
HPA
ENSG00000114026-OGG1
PRO
O15527
Pharos - Targets
O15527
PDB
1N39
,
1YQM
,
1YQK
,
1YQL
,
2XHI
,
1YQR
,
1N3A
,
6W0R
,
3KTU
,
6W13
,
3IH7
,
1HU0
,
2NOE
,
2NOH
,
8VX6
,
2NOI
,
2NOF
,
1M3H
,
1M3Q
,
2NOL
,
8VX4
,
2NOZ
,
2NOB
,
1N3C
,
6RLW
,
1KO9
,
1EBM
,
7AYY
,
6W0M
,
1LWV
,
1LWW
,
1LWY
,
5AN4
,
1FN7
,
2I5W
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