IDH1 (isocitrate dehydrogenase (NADP(+)) 1)

2007-02-01  

Identity

HGNC
LOCATION
2q34
LOCUSID
ALIAS
HEL-216,HEL-S-26,IDCD,IDH,IDP,IDPC,PICD
FUSION GENES

Other Information

Locus ID:

NCBI: 3417
MIM: 147700
HGNC: 5382
Ensembl: ENSG00000138413

Variants:

dbSNP: 3417
ClinVar: 3417
TCGA: ENSG00000138413
COSMIC: IDH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138413ENST00000345146O75874
ENSG00000138413ENST00000345146V9HWJ2
ENSG00000138413ENST00000415282C9J4N6
ENSG00000138413ENST00000415913O75874
ENSG00000138413ENST00000415913V9HWJ2
ENSG00000138413ENST00000417583C9JLU6
ENSG00000138413ENST00000446179O75874
ENSG00000138413ENST00000446179V9HWJ2
ENSG00000138413ENST00000451391C9JJE5

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Citrate cycle (TCA cycle)KEGGko00020
Glutathione metabolismKEGGko00480
Citrate cycle (TCA cycle)KEGGhsa00020
Glutathione metabolismKEGGhsa00480
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
Metabolic pathwaysKEGGhsa01100
Citrate cycle, first carbon oxidation, oxaloacetate => 2-oxoglutarateKEGGhsa_M00010
Citrate cycle (TCA cycle, Krebs cycle)KEGGM00009
Citrate cycle, first carbon oxidation, oxaloacetate => 2-oxoglutarateKEGGM00010
2-Oxocarboxylic acid metabolismKEGGhsa01210
2-Oxocarboxylic acid metabolismKEGGko01210
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Citrate cycle (TCA cycle, Krebs cycle)KEGGhsa_M00009
Central carbon metabolism in cancerKEGGhsa05230
Central carbon metabolism in cancerKEGGko05230
DiseaseREACTOMER-HSA-1643685
Diseases of metabolismREACTOMER-HSA-5668914
Abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarateREACTOMER-HSA-2978092
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Peroxisomal lipid metabolismREACTOMER-HSA-390918
NADPH regenerationREACTOMER-HSA-389542
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166153473venetoclaxChemicalLabelAnnotationassociated
PA166182707ivosidenibChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
201292512010Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1.2371
187723962008An integrated genomic analysis of human glioblastoma multiforme.1945
192286192009IDH1 and IDH2 mutations in gliomas.1558
199356462009Cancer-associated IDH1 mutations produce 2-hydroxyglutarate.1048
211307012010Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation.875
196571102009Recurring mutations found by sequencing an acute myeloid leukemia genome.763
223438892012IDH1 mutation is sufficient to establish the glioma hypermethylator phenotype.631
223439012012IDH mutation impairs histone demethylation and results in a block to cell differentiation.626
201711472010The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate.617
221014332011Reductive glutamine metabolism by IDH1 mediates lipogenesis under hypoxia.577

Citation

Dessen P

IDH1 (isocitrate dehydrogenase (NADP(+)) 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46377/idh1