IDH1

GPTKB entity

Statements (40)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alias gptkb:IDP
PICD
isocitrate dehydrogenase 1
gptkbp:clinicalTrialPhase IDH1 mutation testing in cancer diagnosis
gptkbp:cofactor NADP+
gptkbp:discoveredBy Mardis et al.
gptkbp:discoveredIn 2008
gptkbp:encodes isocitrate dehydrogenase 1 (cytosolic) protein
gptkbp:Entrez_Gene_ID 3417
ENSG00000138413
gptkbp:enzymeCommissionNumber 1.1.1.42
gptkbp:expressedIn gptkb:kidney
brain
liver
gptkbp:fullName isocitrate dehydrogenase (NADP(+)) 1, cytosolic
gptkbp:function catalyzes oxidative decarboxylation of isocitrate to alpha-ketoglutarate
gptkbp:HGNC_ID HGNC:5382
https://www.w3.org/2000/01/rdf-schema#label IDH1
gptkbp:length 414 amino acids
gptkbp:locatedOnChromosome 2q34
gptkbp:molecularWeight 46 kDa
gptkbp:mutationAssociatedWith gptkb:acute_myeloid_leukemia
cholangiocarcinoma
glioma
production of 2-hydroxyglutarate
R132H
gptkbp:OMIM 147700
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologInMouse Idh1
gptkbp:pathway glucose metabolism
tricarboxylic acid cycle
NADPH production
gptkbp:PDB 5LJ4
gptkbp:subcellularLocation gptkb:peroxisome
cytosol
gptkbp:targetOfDrug gptkb:ivosidenib
gptkbp:UniProtID O75874
gptkbp:bfsParent gptkb:isocitrate_dehydrogenase
gptkbp:bfsLayer 6