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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IDP
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:0004450 Function Isocitrate dehydrogenase (NADP+) activity IBA 21873635
GO:0004450 Function Isocitrate dehydrogenase (NADP+) activity IDA 10521434, 19935646, 20171178
GO:0005515 Function Protein binding IPI 32814053
GO:0005576 Component Extracellular region TAS
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Maffucci Syndrome Maffucci syndrome GenCC
Associations from Text Mining
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