IDH1 R132S mutant [cytosol]

Stable Identifier
R-HSA-880048
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Isocitrate dehydrogenase (NADP) cytoplasmic R132S
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:O75874 IDH1
Gene Names
IDH1, PICD
Chain
initiator methionine:1, chain:2-414
Reference Genes
BioGPS Gene:3417 IDH1
COSMIC (genes):IDH1 IDH1
CTD Gene:3417 IDH1
dbSNP Gene:3417 IDH1
ENSEMBL:ENSG00000138413 IDH1
HGNC:5382 IDH1
KEGG Gene (Homo sapiens):3417 IDH1
Monarch:3417 IDH1
NCBI Gene:3417 IDH1
OMIM:147700 IDH1
Reference Transcript
Other Identifiers
0001340671
11718474_a_at
11718475_s_at
11746174_s_at
1555037_a_at
16907758
201193_at
2597013
2597014
2597015
2597016
2597019
2597021
2597023
2597029
2597032
2597034
2597036
2597037
2597038
2597040
2597041
2940675
2940678
2940682
3417
39023_at
64372_r_at
8058552
GE54157
GO:0000003
GO:0000287
GO:0002376
GO:0003674
GO:0004448
GO:0004450
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005737
GO:0005739
GO:0005777
GO:0005782
GO:0005829
GO:0005975
GO:0006091
GO:0006097
GO:0006099
GO:0006102
GO:0006103
GO:0006605
GO:0006625
GO:0006629
GO:0006739
GO:0006740
GO:0006749
GO:0006790
GO:0006810
GO:0006950
GO:0006979
GO:0008150
GO:0008585
GO:0009056
GO:0009058
GO:0014070
GO:0015031
GO:0016192
GO:0016491
GO:0016616
GO:0031410
GO:0034641
GO:0034774
GO:0042802
GO:0042803
GO:0043167
GO:0043226
GO:0043312
GO:0044281
GO:0045296
GO:0046872
GO:0048545
GO:0048856
GO:0050661
GO:0051186
GO:0051287
GO:0055114
GO:0060696
GO:0070062
GO:0071071
GO:1904724
GO:1904813
Hs2.11223.2.S1_3p_s_at
ILMN_1696432
ILMN_2091347
PH_hs_0030991
TC02002726.hg
U62389_at
g5174470_3p_at
g5174470_3p_x_at
Participant Of
hasComponent
Other forms of this molecule
IDH1 R132H mutant [cytosol]
IDH1 R132L mutant [cytosol]
IDH1 R132C mutant [cytosol]
IDH1 [ficolin-1-rich granule lumen]
IDH1 [tertiary granule lumen]
IDH1 [extracellular region]
IDH1 [secretory granule lumen]
IDH1 [peroxisomal matrix]
IDH1 [cytosol]
Modified Residues
Name
L-arginine 132 replaced with L-serine
Coordinate
132
PsiMod
L-serine residue [MOD:00025]
A protein modification that effectively converts a source amino acid residue to L-serine.
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
glioblastoma multiforme 3068 GBM, adult glioblastoma multiforme, grade IV adult Astrocytic tumor, primary glioblastoma multiforme, spongioblastoma multiforme
Cross References
RefSeq
OpenTargets
ZINC - Substances
ZINC target
PRO
PDB
COSMIC
IntEnz
GeneCards
HPA
Ensembl
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
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