OGG1 R46Q [nucleoplasm]

Stable Identifier
R-HSA-9657113
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
OGG1 Arg46Gln
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
19537786 The R46Q, R131Q and R154H polymorphs of human DNA glycosylase/beta-lyase hOgg1 severely distort the active site and DNA recognition site but do not cause unfolding

Anderson, PC, Daggett, V

J. Am. Chem. Soc. 2009
10987279 Alterations of the DNA repair gene OGG1 in human clear cell carcinomas of the kidney

Audebert, M, Chevillard, S, Levalois, C, Gyapay, G, Vieillefond, A, Klijanienko, J, Vielh, P, El Naggar, AK, Oudard, S, Boiteux, S, Radicella, JP

Cancer Res. 2000
10908322 Effect of single mutations in the OGG1 gene found in human tumors on the substrate specificity of the Ogg1 protein

Audebert, M, Radicella, JP, Dizdaroglu, M

Nucleic Acids Res. 2000
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
Participates
as a member of
Other forms of this molecule
OGG1 [nucleoplasm]
OGG1 R131G [nucleoplasm]
OGG1 R46L [nucleoplasm]
OGG1 P266fs*139 [nucleoplasm]
OGG1 R131Q [nucleoplasm]
OGG1 R229Q [nucleoplasm]
OGG1 R154H [nucleoplasm]
OGG1 D268N [nucleoplasm]
SOH-C326-OGG1 S326C [nucleoplasm]
OGG1 D268A [nucleoplasm]
OGG1 K249Q [nucleoplasm]
OGG1 S326C [nucleoplasm]
OGG1 A288V [nucleoplasm]
OGG1 A53T [nucleoplasm]
Modified Residues
Name
L-arginine 46 replaced with L-glutamine
Coordinate
46
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-glutamine residue [MOD:00016]
A protein modification that effectively converts a source amino acid residue to an L-glutamine.
Disease
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
kidney cancer DOID:263 malignant neoplasm of kidney except pelvis, malignant tumour of kidney, renal cancer
renal clear cell carcinoma DOID:4467 conventional renal cell carcinoma, Clear cell carcinoma of kidney (disorder), conventional (Clear cell) renal cell carcinoma
Cross References
RefSeq
Guide to Pharmacology - Targets
OpenTargets
ENSEMBL
Mondo
GeneCards
HPA
PRO
Pharos - Targets
PDB
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