Reactome | IDH1 R132S mutant [cytosol]

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:0005515

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:0006629

GO:0006739

GO:0006740

GO:0006749

GO:0006790

GO:0006810

GO:0006950

GO:0006979

GO:0008104

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:0051287

GO:0055114

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 R132S dimer [cytosol] (Homo sapiens)

Other forms of this molecule

IDH1 R132H mutant [cytosol]

IDH1 R132L mutant [cytosol]

IDH1 R132C mutant [cytosol]

IDH1 [secretory granule lumen]

IDH1 [tertiary granule lumen]

IDH1 [extracellular region]

IDH1 [ficolin-1-rich 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	DOID:3068	GBM, adult glioblastoma multiforme, grade IV adult Astrocytic tumor, primary glioblastoma multiforme, spongioblastoma multiforme

Cross References

RefSeq

NP_005887.2, NP_001269316.1, NP_001269315.1

Guide to Pharmacology - Targets

2884

OpenTargets

ENSG00000138413

ZINC - Substances

IDHC_HUMAN

ZINC target

O75874

PRO

O75874

GlyGen

O75874

PDB

6O2Z, 3INM, 6BKX, 6BKY, 6BL0, 6IO0, 5K10, 6ADG, 5YFN, 4XS3, 3MAS, 3MAR, 1T09, 6Q6F, 4XRX, 4KZO, 6B0Z, 5YFM, 5TQH, 6O2Y, 4I3L, 4I3K, 3MAP, 5DE1, 5LGE, 6VEI, 5SUN, 5L57, 5L58, 4L06, 6BL2, 4L04, 4UMY, 6BKZ, 6PAY, 6BL1, 5K11, 6U4J, 1T0L, 5SVF, 5GIR, 4L03, 4UMX, 6VG0

COSMIC

COSV61615649

IntEnz

1.1.1.42

HPA

ENSG00000138413-IDH1

GeneCards

O75874

Ensembl

ENSP00000410513, ENSP00000260985, ENSG00000138413, ENST00000446179, ENST00000415913, ENSP00000390265, ENST00000345146

Pharos - Targets

O75874

Orphanet

21083

ZINC - Predictions - Purchasable

IDHC_HUMAN

HMDB Protein

HMDBP00898

Interactors (6)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P0DP23 CALM1	5	Me3K115-CALM1 [cytosol] (R-HSA-9016706) CALM1 [extracellular region] (R-HSA-9016841) CALM1 [plasma membrane] (R-HSA-9016884) CALM1 [nucleoplasm] (R-HSA-9016871) CALM1 [cytosol] (R-HSA-9016707)	0.65	7
UniProt:P37173 TGFBR2	9	TGFBR2 E526Q [plasma membrane] (R-HSA-3645770) TGFBR2 Y470D [plasma membrane] (R-HSA-3640905) TGFBR2 D522N [plasma membrane] (R-HSA-3640907) TGFBR2 R528H [plasma membrane] (R-HSA-3640894) TGFBR2 R528C [plasma membrane] (R-HSA-3640899) TGFBR2 K128fs3 [cytosol] (R-HSA-3642173) TGFBR2 K128fs35 [cytosol] (R-HSA-3642166) NEDD8-K556,K567-TGFBR2 [plasma membrane] (R-HSA-4332222) TGFBR2 [plasma membrane] (R-HSA-170842)	0.556	3
UniProt:P27797 CALR	6	CALR [integral component of lumenal side of endoplasmic reticulum membrane] (R-HSA-985502) CALR [endoplasmic reticulum lumen] (R-HSA-195905) CALR [endoplasmic reticulum-Golgi intermediate compartment membrane] (R-HSA-8863866) CALR [phagocytic vesicle membrane] (R-HSA-1236879) CALR [extracellular region] (R-HSA-2197641) CALR [endocytic vesicle lumen] (R-HSA-2239448)	0.556	3
UniProt:P50454 SERPINH1	1	SERPINH1 [endoplasmic reticulum lumen] (R-HSA-2127480)	0.556	3
UniProt:P16284 PECAM1	4	p-Y663,Y686-PECAM1(27-?) [plasma membrane] (R-HSA-210007) PECAM1 [plasma membrane] (R-HSA-114686) PECAM1 [secretory granule membrane] (R-HSA-6804778) PECAM1 [platelet alpha granule membrane] (R-HSA-61489)	0.556	3
UniProt:P17612 PRKACA	3	PRKACA [cytosol] (R-HSA-57844) PRKACA [ciliary base] (R-HSA-5610402) PRKACA [nucleoplasm] (R-HSA-111936)	0.556	3