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IDH1 R132C mutant [cytosol]
Stable Identifier
R-HSA-880031
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Isocitrate dehydrogenase (NADP) cytoplasmic R132C
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarate (Homo sapiens)
2-oxoglutarate + NADPH + H+ => (R)-2-hydroxyglutarate + NADP+ [mutant IDH1] (Homo sapiens)
IDH1 R132mutant dimers [cytosol] (Homo sapiens)
IDH1 R132C dimer [cytosol] (Homo sapiens)
IDH1 R132C mutant [cytosol] (Homo sapiens)
External Reference Information
External Reference
UniProt:O75874 IDH1
Gene Names
IDH1, PICD
Chain
initiator methionine:, 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:hsa:3417 IDH1
Monarch:3417 IDH1
NCBI Gene:3417 IDH1
OMIM:147700 IDH1
UCSC:O75874 IDH1
Reference Transcript
RefSeq:NM_001282387.1 IDH1
RefSeq:NM_005896.3 IDH1
RefSeq:NM_001282386.1 IDH1
Other Identifiers
11718474_a_at
11718475_s_at
11746174_s_at
1555037_PM_a_at
1555037_a_at
16907758
201193_PM_at
201193_at
2597013
2597014
2597015
2597016
2597017
2597019
2597021
2597023
2597025
2597026
2597027
2597028
2597029
2597030
2597031
2597032
2597034
2597035
2597036
2597037
2597038
2597039
2597040
2597041
2597043
2597047
2940675
2940678
2940682
3417
39023_at
64372_r_at
8058552
84040_at
A_24_P696133
GE54157
GO:0000287
GO:0003824
GO:0004450
GO:0005515
GO:0005576
GO:0005737
GO:0005739
GO:0005777
GO:0005782
GO:0005829
GO:0005975
GO:0006097
GO:0006099
GO:0006102
GO:0006103
GO:0006575
GO:0006739
GO:0006749
GO:0006790
GO:0006979
GO:0008585
GO:0014070
GO:0016491
GO:0016616
GO:0022414
GO:0034774
GO:0042802
GO:0042803
GO:0043226
GO:0045296
GO:0046872
GO:0048545
GO:0048856
GO:0050661
GO:0051287
GO:0055086
GO:0060696
GO:0070062
GO:0071071
GO:1904724
GO:1904813
HMNXSV003048486
Hs2.11223.2.S1_3p_s_at
ILMN_1696432
ILMN_2091347
PH_hs_0030991
RNA146914|p0018_imsncRNA51
TC02002726.hg
U62389_at
g5174470_3p_at
g5174470_3p_x_at
Participates
as a component of
IDH1 R132C dimer [cytosol] (Homo sapiens)
Other forms of this molecule
IDH1 [cytosol]
IDH1 [peroxisomal matrix]
IDH1 [secretory granule lumen]
IDH1 [extracellular region]
IDH1 [tertiary granule lumen]
IDH1 [ficolin-1-rich granule lumen]
IDH1 R132S mutant [cytosol]
IDH1 R132L mutant [cytosol]
IDH1 R132H mutant [cytosol]
Modified Residues
Name
L-arginine 132 replaced with L-cysteine
Coordinate
132
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Disease
Name
Identifier
Synonyms
glioblastoma multiforme
DOID:3068
GBM, adult glioblastoma multiforme, grade IV adult Astrocytic tumor, primary glioblastoma multiforme, spongioblastoma multiforme
Cross References
RefSeq
NP_001269316.1
,
NP_001269315.1
,
NP_005887.2
Guide to Pharmacology - Targets
2884
OpenTargets
ENSG00000138413
ENSEMBL
ENSP00000410513
,
ENST00000345146
,
ENSP00000390265
,
ENSP00000260985
,
ENST00000446179
,
ENST00000415913
ZINC - Substances
IDHC_HUMAN
ZINC target
O75874
PRO
O75874
GlyGen
O75874
PDB
8HB9
,
4I3L
,
6IO0
,
5K10
,
5K11
,
4L06
,
5DE1
,
7PJN
,
6BKZ
,
6O2Z
,
3MAS
,
5L57
,
8VHE
,
6PAY
,
4XRX
,
4UMY
,
3MAP
,
8VHC
,
8VH9
,
5TQH
,
5SVF
,
1T09
,
4L03
,
6BL1
,
4KZO
,
6BL2
,
3INM
,
4I3K
,
5LGE
,
1T0L
,
5SUN
,
5GIR
,
6B0Z
,
7PJM
,
8BAY
,
6BKY
,
6O2Y
,
5YFM
,
4XS3
,
8VHB
,
6VEI
,
3MAR
,
8VHD
,
4UMX
,
5YFN
,
6Q6F
,
5L58
,
6ADG
,
8VHA
,
4L04
,
6VG0
,
6BL0
,
6BKX
,
6U4J
COSMIC
COSV61615256
,
COSM41294
IntEnz
1.1.1.42
HPA
ENSG00000138413-IDH1
Pharos - Targets
O75874
Orphanet
IDH1
ZINC - Predictions - Purchasable
IDHC_HUMAN
HMDB Protein
HMDBP00898
Interactors (8)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P0DP23 CALM1
5
CALM1 [cytosol]
(R-HSA-9016707)
CALM1 [nucleoplasm]
(R-HSA-9016871)
CALM1 [plasma membrane]
(R-HSA-9016884)
Me3K116-CALM1 [cytosol]
(R-HSA-9016706)
CALM1 [extracellular region]
(R-HSA-9016841)
0.65
7
2-oxoglutarate(2-) [ChEBI:16810]
7
2OG [cytoplasm]
(R-ALL-5278317)
2OG [endoplasmic reticulum lumen]
(R-ALL-1650779)
2OG [peroxisomal matrix]
(R-ALL-389537)
2OG [nucleoplasm]
(R-ALL-113671)
2OG [extracellular region]
(R-ALL-561075)
2OG [mitochondrial matrix]
(R-ALL-113594)
2OG [cytosol]
(R-ALL-29406)
0.623
13
UniProt:P50454 SERPINH1
1
SERPINH1 [endoplasmic reticulum lumen]
(R-HSA-2127480)
0.556
3
UniProt:P17612 PRKACA
4
PRKACA [cytosol]
(R-HSA-57844)
PRKACA [nucleoplasm]
(R-HSA-111936)
PRKACA [ciliary base]
(R-HSA-5610402)
PRKACA [mitochondrial matrix]
(R-HSA-9838291)
0.556
3
UniProt:P37173 TGFBR2
9
TGFBR2 [plasma membrane]
(R-HSA-170842)
NEDD8-K556,K567-TGFBR2 [plasma membrane]
(R-HSA-4332222)
TGFBR2 K128Sfs*35 [cytosol]
(R-HSA-3642166)
TGFBR2 K128Afs*3 [cytosol]
(R-HSA-3642173)
TGFBR2 R528C [plasma membrane]
(R-HSA-3640899)
TGFBR2 R528H [plasma membrane]
(R-HSA-3640894)
TGFBR2 D522N [plasma membrane]
(R-HSA-3640907)
TGFBR2 E526Q [plasma membrane]
(R-HSA-3645770)
TGFBR2 Y470D [plasma membrane]
(R-HSA-3640905)
0.556
3
UniProt:P16284 PECAM1
5
PECAM1 [plasma membrane]
(R-HSA-114686)
PECAM1 [secretory granule membrane]
(R-HSA-6804778)
p-Y663,Y686-PECAM1(27-?) [plasma membrane]
(R-HSA-210007)
p-Y713-PECAM1 [plasma membrane]
(R-HSA-9860772)
PECAM1 [platelet alpha granule membrane]
(R-HSA-61489)
0.556
3
UniProt:P27797 CALR
6
CALR [lumenal side of endoplasmic reticulum membrane]
(R-HSA-985502)
CALR [endoplasmic reticulum lumen]
(R-HSA-195905)
CALR [extracellular region]
(R-HSA-2197641)
CALR [endocytic vesicle lumen]
(R-HSA-2239448)
CALR [endoplasmic reticulum-Golgi intermediate compartment membrane]
(R-HSA-8863866)
CALR [phagocytic vesicle membrane]
(R-HSA-1236879)
0.556
3
UniProt:P36957 DLST
5
Lipo-K110-DLST [mitochondrial matrix]
(R-HSA-69993)
SuccinyllipoH2-K110-DLST [mitochondrial matrix]
(R-HSA-9853502)
LipoH2-K110-DLST [mitochondrial matrix]
(R-HSA-9853485)
DLST [mitochondrial matrix]
(R-HSA-6792574)
GlutaryllipoH2-K110-DLST [mitochondrial matrix]
(R-HSA-9858581)
0.556
3
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