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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
40
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Acute myeloid leukemia Likely pathogenic; Pathogenic rs121913499 RCV000445302
RCV005900719
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute myeloid leukemia with NPM1 somatic mutations Likely pathogenic; Pathogenic rs121913500 RCV006253824
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Astrocytoma IDH-mutant Likely pathogenic; Pathogenic rs121913500 RCV006253823
RCV006253949
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cholangiocarcinoma Pathogenic rs121913499 RCV005900721
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHONDROMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 21647154
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 20538800, 21647154, 22809434, 28544751
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 20171147, 20376086, 21647152, 21647154, 21873548, 22020636, 22488406, 23365461, 23954893, 25022553, 25651001, 26016821, 26466372, 29439493, 30692099
View all (3 more)
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia CTD_human_DG 25324972, 27992414
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia BEFREE 20805365, 21647152
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia CTD_human_DG 25324972, 27992414
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 22397365
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia CTD_human_DG 26285909
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 22064513, 25029120
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CLINVAR_DG 26619011
★☆☆☆☆
Found in Text Mining only