Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3417
Gene name Gene Name - the full gene name approved by the HGNC.
Isocitrate dehydrogenase (NADP(+)) 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IDH1
Synonyms (NCBI Gene) Gene synonyms aliases
HEL-216, HEL-S-26, IDCD, IDH, IDP, IDPC, PICD
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q34
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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-PCR, Western blot 24623846
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
147700 5382 ENSG00000138413
Protein
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Citrate cycle (TCA cycle)
Glutathione metabolism
Metabolic pathways
Carbon metabolism
2-Oxocarboxylic acid metabolism
Biosynthesis of amino acids
Peroxisome
Central carbon metabolism in cancer
  Abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarate
NADPH regeneration
Neutrophil degranulation
Peroxisomal protein import
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Maffucci Syndrome maffucci syndrome rs121913499 N/A
neoplasm Neoplasm rs121913499, rs121913500 N/A
acute myeloid leukemia Acute myeloid leukemia rs121913499 N/A
Enchondromatosis enchondromatosis rs121913499, rs62193615, rs121913500 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Lymphoma lymphoma N/A N/A ClinVar
Associations from Text Mining Disease 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