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Aliases for IDH1 Gene

Aliases for IDH1 Gene

  • Isocitrate Dehydrogenase (NADP(+)) 1, Cytosolic 2 3 5
  • Isocitrate Dehydrogenase 1 (NADP+), Soluble 2 3
  • Oxalosuccinate Decarboxylase 3 4
  • NADP(+)-Specific ICDH 3 4
  • PICD 3 4
  • IDH 3 4
  • IDP 3 4
  • NADP-Dependent Isocitrate Dehydrogenase, Peroxisomal 3
  • NADP-Dependent Isocitrate Dehydrogenase, Cytosolic 3
  • Isocitrate Dehydrogenase [NADP] Cytoplasmic 3
  • Cytosolic NADP-Isocitrate Dehydrogenase 4
  • Epididymis Secretory Protein Li 26 3
  • Isocitrate Dehydrogenase 1 (NADP+) 2
  • Epididymis Luminal Protein 216 3
  • EC 4
  • HEL-S-26 3
  • HEL-216 3
  • IDCD 3
  • IDPC 3

External Ids for IDH1 Gene

Previous GeneCards Identifiers for IDH1 Gene

  • GC02M207376
  • GC02M207825
  • GC02M209064
  • GC02M209303
  • GC02M208926
  • GC02M208809
  • GC02M209100
  • GC02M200949

Summaries for IDH1 Gene

Entrez Gene Summary for IDH1 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 have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the cytoplasm and peroxisomes. It contains the PTS-1 peroxisomal targeting signal sequence. The presence of this enzyme in peroxisomes suggests roles in the regeneration of NADPH for intraperoxisomal reductions, such as the conversion of 2, 4-dienoyl-CoAs to 3-enoyl-CoAs, as well as in peroxisomal reactions that consume 2-oxoglutarate, namely the alpha-hydroxylation of phytanic acid. The cytoplasmic enzyme serves a significant role in cytoplasmic NADPH production. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]

CIViC summary for IDH1 Gene

  • IDH1 mutations have been observed in a number of cancer types, including sarcomas, hematologic malignancies, colon cancer and brain cancer. Mutations in the two isocitrate dehydrogenase enzymes involved in cytoplasmic (IDH1) and mitochondrial (IDH2) conversion of alpha-ketoglutarate to D-2-hydroxyglutarate have been described as mutually exclusive in many of these cancer types. The most frequent mutations involve R132 (IDH1) and R172 (IDH2) involve the active site and result in neomorphic enzyme activity. The implications of mutations in this gene vary greatly by cancer type. In myelodysplastic syndromes and acute myeloid leukemia (AML), IDH1 mutations have been associated with worse outcome, shorter overall survival, and normal karyotype. However, in glioblastoma and astrocytoma, patients with IDH1 mutations have shown better overall survival than patients with wild-type IDH1. Unlike the association with cytogenetically normal AML, in glioblastoma, IDH1 mutations have been associated with specific cytogenetic abnormalities, 1p and 19q deletions.

GeneCards Summary for IDH1 Gene

IDH1 (Isocitrate Dehydrogenase (NADP(+)) 1, Cytosolic) is a Protein Coding gene. Diseases associated with IDH1 include Glioma Susceptibility 1 and Metaphyseal Enchondromatosis With D-2-Hydroxyglutaric Aciduria. Among its related pathways are Central carbon metabolism in cancer and Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and magnesium ion binding. An important paralog of this gene is IDH2.

Gene Wiki entry for IDH1 Gene

Additional gene information for IDH1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IDH1 Gene

Genomics for IDH1 Gene

GeneHancer (GH) Regulatory Elements for IDH1 Gene

Promoters and enhancers for IDH1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J208264 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 -0.5 -483 3.7 HDGF SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 PIKFYVE IDH1 PTH2R MYL6BP1 GC02P208116
GH02J208251 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.4 +12.3 12297 4.8 MLX ZFP64 DMAP1 YY1 ZNF213 ZNF143 ZNF263 SP3 NFYC PPARGC1A PIKFYVE IDH1-AS1 IDH1 CREB1 PTH2R TPT1P2 GC02P208116
GH02J208129 Promoter/Enhancer 1.3 EPDnew ENCODE 10.2 +135.5 135529 1.1 ELF3 MLX ARID4B THRB ZNF48 ZSCAN9 RARA SLC30A9 ZNF614 RCOR1 CRYGC CRYGA IDH1-AS1 IDH1 CRYGEP CRYGD LOC100533727 LOC100507443 GC02P208116
GH02J208310 Enhancer 1 Ensembl ENCODE dbSUPER 11.1 -46.5 -46479 3.7 PKNOX1 SMAD1 TRIM22 JUNB STAT5A BATF IRF4 E4F1 RELA NFATC1 IDH1 IDH1-AS1 PIKFYVE PIR36576 PTH2R GC02P208116
GH02J208112 Enhancer 1 Ensembl ENCODE 11 +153.0 153042 1.7 MZF1 FEZF1 ZNF2 RFX5 ZNF213 ZNF366 RCOR1 OVOL3 REST ZNF843 CRYGEP CRYGB IDH1-AS1 IDH1 CRYGA FZD5 CRYGD GC02P208116
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IDH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IDH1 gene promoter:
  • STAT5B
  • HOXA3
  • GATA-1
  • MIF-1
  • CHOP-10
  • C/EBPalpha
  • Pax-5
  • ATF6
  • Evi-1

Genomic Locations for IDH1 Gene

Genomic Locations for IDH1 Gene
29,848 bases
Minus strand
29,848 bases
Minus strand

Genomic View for IDH1 Gene

Genes around IDH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IDH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IDH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IDH1 Gene

Proteins for IDH1 Gene

  • Protein details for IDH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Isocitrate dehydrogenase [NADP] cytoplasmic
    Protein Accession:
    Secondary Accessions:
    • Q567U4
    • Q6FHQ6
    • Q7Z3V0
    • Q93090
    • Q9NTJ9
    • Q9UKW8

    Protein attributes for IDH1 Gene

    414 amino acids
    Molecular mass:
    46659 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for IDH1 Gene

neXtProt entry for IDH1 Gene

Post-translational modifications for IDH1 Gene

  • Acetylation at Lys-374 dramatically reduces catalytic activity.
  • Ubiquitination at Lys321, Lys233, and isoforms=126
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for IDH1 Gene

Domains & Families for IDH1 Gene

Gene Families for IDH1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the isocitrate and isopropylmalate dehydrogenases family.
  • Belongs to the isocitrate and isopropylmalate dehydrogenases family.
genes like me logo Genes that share domains with IDH1: view

Function for IDH1 Gene

Molecular function for IDH1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Isocitrate + NADP(+) = 2-oxoglutarate + CO(2) + NADPH.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=49 uM for NADP {ECO:0000269 PubMed:19935646}; KM=29 uM for magnesium chloride {ECO:0000269 PubMed:19935646}; KM=65 uM for isocitrate {ECO:0000269 PubMed:19935646};
GENATLAS Biochemistry:
isocitrate dehydrogenase 1,cytosolic,NADPH dependent,third step of citric acid cycle

Enzyme Numbers (IUBMB) for IDH1 Gene

Phenotypes From GWAS Catalog for IDH1 Gene

Gene Ontology (GO) - Molecular Function for IDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 19935646
GO:0004448 isocitrate dehydrogenase activity IEA --
GO:0004450 isocitrate dehydrogenase (NADP+) activity IDA,IEA 10521434
GO:0005102 signaling receptor binding IPI 20178365
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with IDH1: view
genes like me logo Genes that share phenotypes with IDH1: view

Human Phenotype Ontology for IDH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IDH1 Gene

MGI Knock Outs for IDH1:
  • Idh1 Idh1<tm1b(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for IDH1

CRISPR Products

miRNA for IDH1 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IDH1

Clone Products

  • Addgene plasmids for IDH1

No data available for Transcription Factor Targets and HOMER Transcription for IDH1 Gene

Localization for IDH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IDH1 Gene

Cytoplasm. Peroxisome.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IDH1 gene
Compartment Confidence
extracellular 5
peroxisome 5
cytosol 5
mitochondrion 4
nucleus 3
cytoskeleton 2
plasma membrane 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA --
GO:0005777 peroxisome IDA,IEA 10521434
GO:0005782 peroxisomal matrix TAS --
genes like me logo Genes that share ontologies with IDH1: view

Pathways & Interactions for IDH1 Gene

genes like me logo Genes that share pathways with IDH1: view

Gene Ontology (GO) - Biological Process for IDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006097 glyoxylate cycle IEA --
GO:0006099 tricarboxylic acid cycle IEA --
GO:0006102 isocitrate metabolic process IDA,IEA 10521434
GO:0006103 2-oxoglutarate metabolic process TAS --
GO:0006740 NADPH regeneration TAS --
genes like me logo Genes that share ontologies with IDH1: view

No data available for SIGNOR curated interactions for IDH1 Gene

Drugs & Compounds for IDH1 Gene

(32) Drugs for IDH1 Gene - From: DrugBank, ClinicalTrials, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
indocyanine Green Approved, Investigational Pharma Inhibition, Inhibitor, Enzyme, cofactor 0
Azacitidine Approved, Investigational Pharma 581
Cytarabine Approved, Investigational Pharma 1166
Daunorubicin Approved Pharma DNA topoisomerase II inhibitor 291
Etoposide Approved Pharma Topo II inhibitor, Topoisomerase 2 Inhibitors 1302

(12) Additional Compounds for IDH1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
  • beta-Nicotinamide adenine dinucleotide phosphate
  • NADP+
  • Nicotinamide adenine dinucleotide phosphate
  • Oxidized nicotinamide-adenine dinucleotide phosphate
  • TPN
Oxalosuccinic acid
  • 1-Oxopropane-1,2,3-tricarboxylate
  • Oxalbernsteinsaeure
  • Oxalosuccinate
  • 1-Oxopropane-1,2,3-tricarboxylic acid
genes like me logo Genes that share compounds with IDH1: view

Transcripts for IDH1 Gene

mRNA/cDNA for IDH1 Gene

Unigene Clusters for IDH1 Gene

Isocitrate dehydrogenase 1 (NADP+), soluble:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IDH1

Clone Products

  • Addgene plasmids for IDH1

Alternative Splicing Database (ASD) splice patterns (SP) for IDH1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13
SP1: -
SP2: - - -
SP3: - -
SP4: - - - -
SP5: - -
SP6: - -
SP7: -

Relevant External Links for IDH1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for IDH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IDH1 Gene

mRNA differential expression in normal tissues according to GTEx for IDH1 Gene

This gene is overexpressed in Adrenal Gland (x6.5) and Liver (x4.9).

Protein differential expression in normal tissues from HIPED for IDH1 Gene

This gene is overexpressed in Liver, secretome (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IDH1 Gene

Protein tissue co-expression partners for IDH1 Gene

NURSA nuclear receptor signaling pathways regulating expression of IDH1 Gene:


SOURCE GeneReport for Unigene cluster for IDH1 Gene:


Evidence on tissue expression from TISSUES for IDH1 Gene

  • Liver(4.9)
  • Nervous system(4.9)
  • Lung(4.6)
  • Kidney(4.5)
  • Skin(3.1)
  • Intestine(3)
  • Blood(2.9)
  • Heart(2.6)
  • Gall bladder(2.4)
  • Spleen(2.4)
  • Stomach(2.2)
  • Adrenal gland(2.1)
  • Bone marrow(2.1)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IDH1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • respiratory
  • skeleton
  • urinary
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
  • pelvis
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • coagulation system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with IDH1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for IDH1 Gene

Orthologs for IDH1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IDH1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia IDH1 34 33
  • 99.28 (n)
(Canis familiaris)
Mammalia IDH1 34 33
  • 92.83 (n)
(Bos Taurus)
Mammalia IDH1 34 33
  • 91.14 (n)
(Mus musculus)
Mammalia Idh1 16 34 33
  • 90.42 (n)
(Rattus norvegicus)
Mammalia Idh1 33
  • 90.42 (n)
(Ornithorhynchus anatinus)
Mammalia IDH1 34
  • 89 (a)
(Monodelphis domestica)
Mammalia IDH1 34
  • 71 (a)
(Gallus gallus)
Aves IDH1 34 33
  • 80 (n)
(Anolis carolinensis)
Reptilia IDH1 34
  • 88 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17063 33
(Danio rerio)
Actinopterygii idh1 34 33
  • 74.24 (n)
zgc66318 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006660 33
  • 67.88 (n)
fruit fly
(Drosophila melanogaster)
Insecta Idh 34 33
  • 67.56 (n)
(Caenorhabditis elegans)
Secernentea F59B8.2 35
  • 74 (a)
idh-1 34 33
  • 67.24 (n)
C34F6.8 35
  • 66 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B03355g 33
  • 65.31 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IDP1 36 34 33
  • 63.61 (n)
IDP2 34
  • 61 (a)
IDP3 34
  • 58 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER061C 33
  • 62.46 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons cICDH 33
  • 63.48 (n)
(Oryza sativa)
Liliopsida Os01g0654500 33
  • 64.16 (n)
(Triticum aestivum)
Liliopsida Ta.1053 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8995 34
  • 73 (a)
Cin.8505 33
bread mold
(Neurospora crassa)
Ascomycetes NCU03857 33
  • 64.48 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes idp1 33
  • 62.12 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8505 33
Species where no ortholog for IDH1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for IDH1 Gene

Gene Tree for IDH1 (if available)
Gene Tree for IDH1 (if available)
Evolutionary constrained regions (ECRs) for IDH1: view image

Paralogs for IDH1 Gene

Paralogs for IDH1 Gene

(1) SIMAP similar genes for IDH1 Gene using alignment to 8 proteins:

  • C9J4N6_HUMAN
  • Q6FI37_HUMAN
  • Q9H302_HUMAN Pseudogenes for IDH1 Gene

genes like me logo Genes that share paralogs with IDH1: view

Variants for IDH1 Gene

Sequence variations from dbSNP and Humsavar for IDH1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs121913499 likely-pathogenic, pathogenic, Neoplasm of brain, Adenocarcinoma of lung, Neoplasm of the breast, Astrocytoma, Hepatocellular carcinoma, Medulloblastoma, Multiple myeloma, Malignant melanoma of skin, Transitional cell carcinoma of the bladder, Adenoid cystic carcinoma, Colorectal Neoplasms, Adenocarcinoma of prostate, Brainstem glioma, Glioblastoma, Myelodysplastic syndrome, Acute myeloid leukemia, Colorectal cancer, Glioma samples, A glioma sample 208,248,389(-) G/A/C/T coding_sequence_variant, missense_variant
rs121913500 likely-pathogenic, pathogenic, not-provided, Myelodysplastic syndrome, Colorectal Neoplasms, Acute myeloid leukemia, Transitional cell carcinoma of the bladder, Medulloblastoma, Glioblastoma, Malignant melanoma of skin, Adenocarcinoma of lung, Neoplasm of brain, Adenocarcinoma of prostate, Multiple myeloma, Neoplasm of the breast, Brainstem glioma, Hepatocellular carcinoma, Adenoid cystic carcinoma, Glioblastoma multiforme, somatic, Oligodendroglioma, Astrocytoma, A glioma sample 208,248,388(-) C/A/G/T coding_sequence_variant, missense_variant
VAR_055454 A glioma sample p.Arg132Gly
VAR_055456 A glioma sample p.Arg132Leu
rs11554137 benign, not specified 208,248,468(-) G/A coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for IDH1 Gene

Variant ID Type Subtype PubMed ID
nsv525747 CNV loss 19592680
nsv584297 CNV gain 21841781
nsv834517 CNV loss 17160897
nsv963771 CNV duplication 23825009

Variation tolerance for IDH1 Gene

Residual Variation Intolerance Score: 36.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.73; 66.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IDH1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IDH1 Gene

Disorders for IDH1 Gene

MalaCards: The human disease database

(67) MalaCards diseases for IDH1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glioma susceptibility 1
  • glm1
metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria
  • spondyloenchondromatosis with d-2-hydroxyglutaric aciduria
multiple enchondromatosis, maffucci type
  • maffucci syndrome
enchondromatosis, multiple, ollier type
  • ollier disease
leukemia, acute myeloid
  • aml
- elite association - COSMIC cancer census association via MalaCards
Search IDH1 in MalaCards View complete list of genes associated with diseases


  • Glioma (GLM) [MIM:137800]: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269 PubMed:19117336, ECO:0000269 PubMed:19935646}. Note=The gene represented in this entry is involved in disease pathogenesis. Mutations affecting Arg-132 are tissue-specific, and suggest that this residue plays a unique role in the development of high-grade gliomas. Mutations of Arg-132 to Cys, His, Leu or Ser abolish magnesium binding and abolish the conversion of isocitrate to alpha-ketoglutarate. Instead, alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate. Elevated levels of R(-)-2-hydroxyglutarate are correlated with an elevated risk of malignant brain tumors. {ECO:0000269 PubMed:19935646}.
  • Note=Genetic variations are associated with cartilaginous tumors such as enchondroma or chondrosarcoma. Mutations of Arg-132 to Cys, Gly or His abolish the conversion of isocitrate to alpha-ketoglutarate. Instead, alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate. {ECO:0000269 PubMed:26161668}.

Additional Disease Information for IDH1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with IDH1: view

No data available for Genatlas for IDH1 Gene

Publications for IDH1 Gene

  1. Rapid and sensitive assessment of the IDH1 and IDH2 mutation status in cerebral gliomas based on DNA pyrosequencing. (PMID: 20131059) Felsberg J … Reifenberger G (Acta neuropathologica 2010) 3 22 44 58
  2. Distinct clinical and biologic characteristics in adult acute myeloid leukemia bearing the isocitrate dehydrogenase 1 mutation. (PMID: 20097881) Chou WC … Tien HF (Blood 2010) 3 22 44 58
  3. IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors. (PMID: 19117336) Bleeker FE … Bardelli A (Human mutation 2009) 3 4 22 58
  4. IDH1 mutations are early events in the development of astrocytomas and oligodendrogliomas. (PMID: 19246647) Watanabe T … Ohgaki H (The American journal of pathology 2009) 3 22 44 58
  5. Type and frequency of IDH1 and IDH2 mutations are related to astrocytic and oligodendroglial differentiation and age: a study of 1,010 diffuse gliomas. (PMID: 19554337) Hartmann C … von Deimling A (Acta neuropathologica 2009) 3 22 44 58

Products for IDH1 Gene

  • Addgene plasmids for IDH1

Sources for IDH1 Gene

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