IDH1 R132S mutant

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
ENSEMBL:ENSG00000138413 IDH1
HGNC:5382 IDH1
KEGG Gene (Homo sapiens):hsa:3417 IDH1
Monarch:3417 IDH1
NCBI Gene:3417 IDH1
OMIM:147700 IDH1
Reference Transcript
Other Identifiers
0001340671
00020+1.1.1.42
00480+1.1.1.42
00720+1.1.1.42
11718474_a_at
11718475_s_at
11746174_s_at
1555037_a_at
16907758
1T09
1T0L
201193_at
2597013
2597014
2597015
2597016
2597019
2597021
2597023
2597029
2597032
2597034
2597036
2597037
2597040
2940675
2940678
2940682
33218
3417
35248
39023_at
3INM
3MAP
3MAR
3MAS
4I3K
4I3L
4KZO
4L03
4L04
4L06
4UMX
4UMY
4XRX
4XS3
57936
5DE1
5GIR
5K10
5K11
5L57
5L58
5LGE
5SUN
5SVF
5TQH
5YFM
5YFN
62556
64372_r_at
6B0Z
8058552
AAB17375
AAD02918
AAD29284
AAH12846
AAH93020
AAX93221
AC016697
ACJ13677
AF020038
AF113917
AL136702
BC012846
BC093020
BX537411
C9J4N6
C9JJE5
C9JLU6
CAB033218
CAB062556
CAB66637
CAD97653
CAG46496
CCDS2381
CH471063
CR541695
EAW70439
EAW70441
EAW70442
ENSG00000138413
ENSP00000260985
ENSP00000390265
ENSP00000410513
ENST00000345146
ENST00000415913
ENST00000446179
EntrezGene:3417
EU794623
g5174470_3p_at
g5174470_3p_x_at
GE54157
GO:0000003
GO:0000287
GO:0002376
GO:0003674
GO:0004448
GO:0004450
GO:0005102
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
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:0006740
GO:0006749
GO:0006790
GO:0006810
GO:0006950
GO:0006979
GO:0008150
GO:0008585
GO:0009056
GO:0009058
GO:0014070
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:0051990
GO:0055114
GO:0060696
GO:0070062
GO:0071071
GO:1904724
GO:1904813
HGNC:5382
HPA035248
HPA057936
Hs2.11223.2.S1_3p_s_at
IDH1
IDH1-201
IDH1-203
IDH1-205
ILMN_1696432
ILMN_2091347
IPR004790
IPR019818
IPR024084
LRG_610
LRG_610t1
LRG_610t2
LRG_610t3
MIM:137800
MIM:147700
NM_001282386
NM_001282387
NM_005896
NP_001269315
NP_001269316
NP_005887
PF00180
PH_hs_0030991
SM01329
TC02002726.hg
U62389
U62389_at
uc002vcs.5
uc002vct.5
uc002vcu.5
UPI000012D1B4
V9HWJ2
Participant Of
hasComponent
Other forms of this molecule
IDH1 [cytosol]
IDH1 [peroxisomal matrix]
IDH1 R132H mutant [cytosol]
IDH1 R132L mutant [cytosol]
IDH1 R132C mutant [cytosol]
IDH1 [tertiary granule lumen]
IDH1 [ficolin-1-rich granule lumen]
IDH1 [extracellular region]
IDH1 [secretory granule lumen]
Modified Residues
Name
L-arginine 132 replaced with L-serine
Coordinate
132
PsiMod HEY
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
COSMIC
GeneCards
ZINC - Substances
ZINC target
PRO
BRENDA (Homo sapiens)
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
PDB