Gene Gene information from NCBI Gene database.
Entrez ID 3417
Gene name Isocitrate dehydrogenase (NADP(+)) 1
Gene symbol IDH1
Synonyms (NCBI Gene)
HEL-216HEL-S-26IDCDIDHIDPIDPCPICD
Chromosome 2
Chromosome location 2q34
Summary Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs121913499 G>A,C,T Likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs121913500 C>A,G,T Likely-pathogenic, not-provided, pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
414
miRTarBase ID miRNA Experiments Reference
MIRT005125 hsa-miR-30a-5p pSILAC 18668040
MIRT017645 hsa-miR-335-5p Microarray 18185580
MIRT005125 hsa-miR-30a-5p Proteomics;Other 18668040
MIRT036500 hsa-miR-1226-3p CLASH 23622248
MIRT054822 hsa-miR-30c-5p qRT-PCRWestern blot 24623846
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IDA 19935646
GO:0000287 Function Magnesium ion binding IEA
GO:0004450 Function Isocitrate dehydrogenase (NADP+) activity IBA
GO:0004450 Function Isocitrate dehydrogenase (NADP+) activity IDA 10521434, 19935646, 20171178
GO:0004450 Function Isocitrate dehydrogenase (NADP+) activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
147700 5382 ENSG00000138413
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75874
Protein name Isocitrate dehydrogenase [NADP] cytoplasmic (IDH) (IDH1) (EC 1.1.1.42) (Cytosolic NADP-isocitrate dehydrogenase) (IDPc) (NADP(+)-specific ICDH) (Oxalosuccinate decarboxylase)
Protein function Catalyzes the NADP(+)-dependent oxidative decarboxylation of isocitrate (D-threo-isocitrate) to 2-ketoglutarate (2-oxoglutarate), which is required by other enzymes such as the phytanoyl-CoA dioxygenase (PubMed:10521434, PubMed:19935646). Plays
PDB 1T09 , 1T0L , 3INM , 3MAP , 3MAR , 3MAS , 4I3K , 4I3L , 4KZO , 4L03 , 4L04 , 4L06 , 4UMX , 4UMY , 4XRX , 4XS3 , 5DE1 , 5GIR , 5K10 , 5K11 , 5L57 , 5L58 , 5LGE , 5SUN , 5SVF , 5TQH , 5YFM , 5YFN , 6ADG , 6B0Z , 6BKX , 6BKY , 6BKZ , 6BL0 , 6BL1 , 6BL2 , 6IO0 , 6O2Y , 6O2Z , 6PAY , 6Q6F , 6U4J , 6VEI , 6VG0 , 7PJM , 7PJN , 8BAY , 8HB9 , 8T7D , 8T7N , 8T7O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00180 Iso_dh 9 401 Isocitrate/isopropylmalate dehydrogenase Domain
Sequence
Sequence length 414
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
68
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely pathogenic; Pathogenic rs121913499 RCV000445302
RCV005900719
Acute myeloid leukemia with NPM1 somatic mutations Likely pathogenic; Pathogenic rs121913500 RCV006253824
Astrocytoma IDH-mutant Likely pathogenic; Pathogenic rs121913500 RCV006253823
RCV006253949
Cholangiocarcinoma Pathogenic rs121913499 RCV005900721
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Benign rs11554137 RCV005898284
Colon adenocarcinoma - rs121913499 RCV005939561
Colorectal cancer Benign rs11554137 RCV005898285
Diffuse midline glioma, H3 K27-altered Uncertain significance rs2469021883 RCV003315273
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 36480544
Acute erythroleukemia Associate 22397365
Adenocarcinoma Associate 32333643
Adenocarcinoma of Lung Associate 32333643
Adenoma Associate 27494611, 32572107
Adenoma Islet Cell Associate 20399149, 22343889
Aging Premature Associate 27179220
Albinism Oculocutaneous Associate 40156602
Alternating hemiplegia of childhood Associate 29846902, 31706351
Aneuploidy Associate 31748746