OGG1 A288V [nucleoplasm]

Stable Identifier
R-HSA-9656265
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
OGG1 Ala288Val
Icon
OGG1 A288V [nucleoplasm] icon
OGG1 A288V [nucleoplasm] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
17426120 Identification and characterization of OGG1 mutations in patients with Alzheimer's disease

Huang, J, Zhang, Y, Mao, G, Pan, X, Li, GM, Markesbery, WR, Yuan, F, Lee, MP, Lovell, MA, Gu, L, Zhu, BB

Nucleic Acids Res. 2007
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 Gene (Homo sapiens):4968 OGG1
Monarch:4968 OGG1
NCBI Gene:4968 OGG1
OMIM:601982 OGG1
UCSC:O15527 OGG1
Reference Transcript
Other Identifiers
0002060524
0004810403
11727607_a_at
11727608_x_at
11727696_x_at
11740749_a_at
16937329
205301_s_at
205760_s_at
2609907
2609908
2609909
2609910
2609913
2609914
2609916
2609917
2609918
2609920
2609921
2609922
2609923
2609924
2609925
2609926
2609927
2609929
2609930
2609931
34146_at
34147_g_at
38333_at
38334_g_at
38335_at
4968
8077635
AB000410_s_at
A_14_P200082
A_23_P212196
A_23_P344392
A_24_P414183
GE58739
GO:0002526
GO:0003674
GO:0003677
GO:0003684
GO:0003824
GO:0004518
GO:0004519
GO:0005515
GO:0005575
GO:0005622
GO:0005634
GO:0005654
GO:0005737
GO:0005739
GO:0005759
GO:0005829
GO:0006259
GO:0006281
GO:0006284
GO:0006285
GO:0006287
GO:0006289
GO:0006355
GO:0006950
GO:0006974
GO:0006979
GO:0007568
GO:0008017
GO:0008092
GO:0008150
GO:0008152
GO:0008219
GO:0008534
GO:0009056
GO:0009058
GO:0009314
GO:0009416
GO:0016363
GO:0016607
GO:0016787
GO:0016798
GO:0016829
GO:0019104
GO:0032355
GO:0032357
GO:0032991
GO:0033683
GO:0034039
GO:0034641
GO:0034655
GO:0042493
GO:0043066
GO:0043226
GO:0044281
GO:0045007
GO:0045008
GO:0045471
GO:0051593
GO:0071276
GO:0140078
GO:1901291
HMNXSV003027366
HMNXSV003040435
HMNXSV003055999
ILMN_1706652
ILMN_1808340
ILMN_2352609
PH_hs_0024314
TC03000042.hg
TC03002210.hg
g8670531_3p_a_at
g8670533_3p_a_at
Participates
as a member of
Other forms of this molecule
OGG1 A53T [nucleoplasm]
OGG1 S326C [nucleoplasm]
OGG1 K249Q [nucleoplasm]
OGG1 D268A [nucleoplasm]
SOH-C326-OGG1 S326C [nucleoplasm]
OGG1 D268N [nucleoplasm]
OGG1 R154H [nucleoplasm]
OGG1 R46Q [nucleoplasm]
OGG1 R229Q [nucleoplasm]
OGG1 R131Q [nucleoplasm]
OGG1 P266fs139* [nucleoplasm]
OGG1 R46L [nucleoplasm]
OGG1 R131G [nucleoplasm]
OGG1 [nucleoplasm]
Modified Residues
Name
L-alanine 288 replaced with L-valine
Coordinate
288
PsiMod
L-alanine removal [MOD:01631]
A protein modification that effectively removes or replaces an L-alanine.
L-valine residue [MOD:00029]
A protein modification that effectively converts a source amino acid residue to an L-valine.
Disease
Name Identifier Synonyms
Alzheimer's disease DOID:10652 AD, Alzheimers dementia, Alzheimer disease
Cross References
RefSeq
Guide to Pharmacology - Targets
ClinGen
OpenTargets
IntEnz
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
PDB
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