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IDH1 R132L mutant [cytosol]
Stable Identifier
R-HSA-880000
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Isocitrate dehydrogenase (NADP) cytoplasmic R132L
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 R132L dimer [cytosol] (Homo sapiens)
IDH1 R132L 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
ENSEMBL_homo_sapiens_GENE:ENSG00000138413.14 IDH1
HGNC:5382 IDH1
KEGG Gene (Homo sapiens):3417 IDH1
Monarch:3417 IDH1
NCBI Gene:3417 IDH1
OMIM:147700 IDH1
Reference Transcript
RefSeq:NM_005896.3 IDH1
RefSeq:NM_001282386.1 IDH1
RefSeq:NM_001282387.1 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
2597019
2597021
2597023
2597029
2597032
2597034
2597036
2597037
2597038
2597040
2597041
2940675
2940678
2940682
3417
39023_at
64372_r_at
8058552
GE54157
GO:0000287
GO:0003824
GO:0004450
GO:0005515
GO:0005576
GO:0005615
GO:0005737
GO:0005739
GO:0005777
GO:0005782
GO:0005829
GO:0005975
GO:0006091
GO:0006097
GO:0006099
GO:0006102
GO:0006103
GO:0006575
GO:0006629
GO:0006739
GO:0006749
GO:0006790
GO:0006979
GO:0008585
GO:0014070
GO:0016491
GO:0016616
GO:0022414
GO:0031410
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
TC02002726.hg
U62389_at
g5174470_3p_at
g5174470_3p_x_at
Participates
as a component of
IDH1 R132L dimer [cytosol] (Homo sapiens)
Other forms of this molecule
IDH1 R132H mutant [cytosol]
IDH1 R132S mutant [cytosol]
IDH1 R132C mutant [cytosol]
IDH1 [secretory granule lumen]
IDH1 [ficolin-1-rich granule lumen]
IDH1 [extracellular region]
IDH1 [tertiary granule lumen]
IDH1 [cytosol]
IDH1 [peroxisomal matrix]
Modified Residues
Name
L-arginine 132 replaced with L-leucine
Coordinate
132
PsiMod
L-leucine residue [MOD:00020]
A protein modification that effectively converts a source amino acid residue to an L-leucine.
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
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
ZINC - Substances
IDHC_HUMAN
ZINC target
O75874
PRO
O75874
PDB
6B0Z
,
6O2Z
,
4UMY
,
5SUN
,
6O2Y
,
6Q6F
,
5LGE
,
3MAP
,
3INM
,
7PJM
,
4I3K
,
4I3L
,
5K11
,
4UMX
,
6ADG
,
5K10
,
6BL1
,
4XRX
,
5GIR
,
5TQH
,
5YFN
,
6U4J
,
6IO0
,
1T0L
,
6VG0
,
6BKX
,
8HB9
,
8VHE
,
8VHD
,
4L06
,
3MAS
,
8BAY
,
5DE1
,
5YFM
,
8VHC
,
7PJN
,
5L58
,
8VHB
,
4KZO
,
1T09
,
5L57
,
3MAR
,
6BL2
,
8VHA
,
4L04
,
6VEI
,
6PAY
,
6BKZ
,
8VH9
,
4L03
,
6BKY
,
6BL0
,
4XS3
,
5SVF
COSMIC
COSV61615420
IntEnz
1.1.1.42
GeneCards
O75874
HPA
ENSG00000138413-IDH1
Ensembl
ENST00000345146
,
ENST00000415913
,
ENSG00000138413
,
ENST00000446179
,
ENSP00000260985
,
ENSP00000410513
,
ENSP00000390265
Pharos - Targets
O75874
Orphanet
21083
ZINC - Predictions - Purchasable
IDHC_HUMAN
HMDB Protein
HMDBP00898
Interactors (8)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P0DP23 CALM1
5
CALM1 [extracellular region]
(R-HSA-9016841)
Me3K116-CALM1 [cytosol]
(R-HSA-9016706)
CALM1 [plasma membrane]
(R-HSA-9016884)
CALM1 [nucleoplasm]
(R-HSA-9016871)
CALM1 [cytosol]
(R-HSA-9016707)
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:P37173 TGFBR2
9
TGFBR2 Y470D [plasma membrane]
(R-HSA-3640905)
TGFBR2 E526Q [plasma membrane]
(R-HSA-3645770)
TGFBR2 D522N [plasma membrane]
(R-HSA-3640907)
TGFBR2 R528H [plasma membrane]
(R-HSA-3640894)
TGFBR2 R528C [plasma membrane]
(R-HSA-3640899)
TGFBR2 K128Afs*3 [cytosol]
(R-HSA-3642173)
TGFBR2 K128Sfs*35 [cytosol]
(R-HSA-3642166)
NEDD8-K556,K567-TGFBR2 [plasma membrane]
(R-HSA-4332222)
TGFBR2 [plasma membrane]
(R-HSA-170842)
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)
GlutaryllipoH2-K110-DLST [mitochondrial matrix]
(R-HSA-9858581)
DLST [mitochondrial matrix]
(R-HSA-6792574)
0.556
3
UniProt:P50454 SERPINH1
1
SERPINH1 [endoplasmic reticulum lumen]
(R-HSA-2127480)
0.556
3
UniProt:P27797 CALR
6
CALR [lumenal side of endoplasmic reticulum membrane]
(R-HSA-985502)
CALR [extracellular region]
(R-HSA-2197641)
CALR [endocytic vesicle lumen]
(R-HSA-2239448)
CALR [endoplasmic reticulum lumen]
(R-HSA-195905)
CALR [endoplasmic reticulum-Golgi intermediate compartment membrane]
(R-HSA-8863866)
CALR [phagocytic vesicle membrane]
(R-HSA-1236879)
0.556
3
UniProt:P16284 PECAM1
5
PECAM1 [platelet alpha granule membrane]
(R-HSA-61489)
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)
0.556
3
UniProt:P17612 PRKACA
4
PRKACA [mitochondrial matrix]
(R-HSA-9838291)
PRKACA [ciliary base]
(R-HSA-5610402)
PRKACA [nucleoplasm]
(R-HSA-111936)
PRKACA [cytosol]
(R-HSA-57844)
0.556
3
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