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

2007-02-01  

Identity

HGNC
IDH1
LOCATION
2q34
LOCUSID
3417
ALIAS
HEL-216,HEL-S-26,IDCD,IDH,IDP,IDPC,PICD
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166153473venetoclaxChemicalLabelAnnotationassociated
PA166182707ivosidenibChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
377168162024IDH1 p.R132C mutation in prostatic carcinoma with psammomatous calcifications: report of two cases.0
379882812024IDH1-mutated Crohn's disease-associated small bowel adenocarcinomas: Distinctive pathological features and association with MGMT methylation and serrated-type dysplasia.0
381174842024The Epigenetic Evolution of Glioma Is Determined by the IDH1 Mutation Status and Treatment Regimen.3
381347102024Identification of IDH and TERTp mutations using dynamic susceptibility contrast MRI with deep learning in 162 gliomas.1
381834302024Improved prognostic stratification of patients with isocitrate dehydrogenase-mutant astrocytoma.3
386417442024Demographic bias in misdiagnosis by computational pathology models.1
386785972024Correlation of IDH1 gene expression error in breast tumor biopsy in patients with invasive ductal carcinoma.0
389910602024Mutant IDH1 inhibition induces dsDNA sensing to activate tumor immunity.0
377168162024IDH1 p.R132C mutation in prostatic carcinoma with psammomatous calcifications: report of two cases.0
379882812024IDH1-mutated Crohn's disease-associated small bowel adenocarcinomas: Distinctive pathological features and association with MGMT methylation and serrated-type dysplasia.0
381174842024The Epigenetic Evolution of Glioma Is Determined by the IDH1 Mutation Status and Treatment Regimen.3
381347102024Identification of IDH and TERTp mutations using dynamic susceptibility contrast MRI with deep learning in 162 gliomas.1
381834302024Improved prognostic stratification of patients with isocitrate dehydrogenase-mutant astrocytoma.3
386417442024Demographic bias in misdiagnosis by computational pathology models.1
386785972024Correlation of IDH1 gene expression error in breast tumor biopsy in patients with invasive ductal carcinoma.0

Citation

Dessen P

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

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

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