|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:IDP
IDCD
NADP(+)-specific ICD
PICD
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:cancer
metabolic disorders
|
|
gptkbp:clinicalTrialPhase
|
IDH1 mutation testing in tumors
|
|
gptkbp:cofactor
|
NADP+
|
|
gptkbp:component
|
gptkb:cytoplasm
|
|
gptkbp:discoveredBy
|
biochemical studies
|
|
gptkbp:encodes
|
isocitrate dehydrogenase 1
|
|
gptkbp:Entrez_Gene_ID
|
3417
ENSG00000138413
|
|
gptkbp:expressedIn
|
gptkb:cytoplasm
gptkb:peroxisome
|
|
gptkbp:fullName
|
isocitrate dehydrogenase (NADP(+)) 1, cytosolic
|
|
gptkbp:function
|
catalyzes oxidative decarboxylation of isocitrate to alpha-ketoglutarate
isocitrate dehydrogenase (NADP+) activity
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GOProcess
|
tricarboxylic acid cycle
|
|
gptkbp:HGNC_ID
|
HGNC:5382
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
IDH1 gene
|
|
gptkbp:length
|
414 amino acids
|
|
gptkbp:locatedOnChromosome
|
chromosome 2
2q34
|
|
gptkbp:molecularWeight
|
46 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:acute_myeloid_leukemia
cholangiocarcinoma
glioma
production of 2-hydroxyglutarate
R132H
|
|
gptkbp:OMIM
|
147700
|
|
gptkbp:orthologInMouse
|
Idh1
|
|
gptkbp:pathway
|
glucose metabolism
citric acid cycle
NADPH production
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:targetOfDrug
|
gptkb:ivosidenib
gptkb:AG-120
|
|
gptkbp:UniProtID
|
O75874
|
|
gptkbp:bfsParent
|
gptkb:IDH1/2_mutation
gptkb:Maffucci_syndrome
|
|
gptkbp:bfsLayer
|
6
|