Free for academic non-profit institutions. Other users need a Commercial license

Aliases for IDH1 Gene

Aliases for IDH1 Gene

  • Isocitrate Dehydrogenase (NADP(+)) 1, Cytosolic 2 3
  • Isocitrate Dehydrogenase 1 (NADP+) 2 3 5
  • Isocitrate Dehydrogenase 1 (NADP+), Soluble 2 3
  • Oxalosuccinate Decarboxylase 3 4
  • NADP(+)-Specific ICDH 3 4
  • EC 1.1.1.42 4 63
  • PICD 3 4
  • IDH 3 4
  • IDP 3 4
  • NADP-Dependent Isocitrate Dehydrogenase, Peroxisomal 3
  • NADP-Dependent Isocitrate Dehydrogenase, Cytosolic 3
  • Cytosolic NADP-Isocitrate Dehydrogenase 4
  • Epididymis Secretory Protein Li 26 3
  • Epididymis Luminal Protein 216 3
  • 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]

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 chondromatosis with d-2-hydroxyglutaric aciduria. Among its related pathways are Carbon metabolism and Central carbon metabolism in cancer. 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

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

Regulatory Elements for IDH1 Gene

Enhancers for IDH1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around IDH1 on UCSC Golden Path with GeneCards custom track

Promoters for IDH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around IDH1 on UCSC Golden Path with GeneCards custom track

Genomic Location for IDH1 Gene

Chromosome:
2
Start:
208,236,227 bp from pter
End:
208,266,074 bp from pter
Size:
29,848 bases
Orientation:
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:
    O75874-IDHC_HUMAN
    Recommended name:
    Isocitrate dehydrogenase [NADP] cytoplasmic
    Protein Accession:
    O75874
    Secondary Accessions:
    • Q567U4
    • Q6FHQ6
    • Q7Z3V0
    • Q93090
    • Q9NTJ9
    • Q9UKW8

    Protein attributes for IDH1 Gene

    Size:
    414 amino acids
    Molecular mass:
    46659 Da
    Cofactor:
    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

Proteomics data for IDH1 Gene at MOPED

Post-translational modifications for IDH1 Gene

  • Acetylation at Lys-374 dramatically reduces catalytic activity.
  • Ubiquitination at Lys 126, Lys 233, and Lys 321
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for IDH1 (Isocitrate Dehydrogenase 1/IDH1)
  • Cell Signaling Technology (CST) Antibodies for IDH1 (IDH1)

Domains & Families for IDH1 Gene

Graphical View of Domain Structure for InterPro Entry

O75874

UniProtKB/Swiss-Prot:

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

No data available for Gene Families for IDH1 Gene

Function for IDH1 Gene

Molecular function for IDH1 Gene

GENATLAS Biochemistry:
isocitrate dehydrogenase 1,cytosolic,NADPH dependent,third step of citric acid cycle
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};
UniProtKB/Swiss-Prot CatalyticActivity:
Isocitrate + NADP(+) = 2-oxoglutarate + CO(2) + NADPH.

Enzyme Numbers (IUBMB) for IDH1 Gene

Gene Ontology (GO) - Molecular Function for IDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042803 protein homodimerization activity IPI 19935646
GO:0051990 (R)-2-hydroxyglutarate dehydrogenase activity EXP 19935646
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 tm1b(EUCOMM)Wtsi

Animal Model Products

  • Taconic Biosciences Mouse Models for IDH1

miRNA for IDH1 Gene

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

COMPARTMENTS
Jensen Localization Image for IDH1 Gene COMPARTMENTS Subcellular localization image for IDH1 gene
Compartment Confidence
cytosol 5
extracellular 5
peroxisome 5
mitochondrion 4
nucleus 3
chloroplast 1
cytoskeleton 1
endoplasmic reticulum 1

No data available for Gene Ontology (GO) - Cellular Components for IDH1 Gene

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:0006099 tricarboxylic acid cycle IEA --
GO:0006103 2-oxoglutarate metabolic process TAS --
GO:0006749 glutathione metabolic process IEA --
GO:0008585 female gonad development IEA --
GO:0014070 response to organic cyclic compound IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Azacitidine Approved, Investigational Pharma 471
Cytarabine Approved, Investigational Pharma 1054
Daunorubicin Approved Pharma 254
Etoposide Approved Pharma Topo II inhibitor, Topoisomerase 2 Inhibitors, Topoisomerase II inhibitor 1189
Idarubicin Approved Pharma 202

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 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
53-57-6
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
Oxalosuccinic acid
  • Oxalosuccinate
  • Oxalosuccinic acid
1948-82-9

(1) ApexBio Compounds for IDH1 Gene

Compound Action Cas Number
AGI-5198 IDH1 inhibitor against R132 mutant,selective and cell-permeable 1355326-35-0
genes like me logo Genes that share compounds with IDH1: view

Transcripts for IDH1 Gene

Unigene Clusters for IDH1 Gene

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

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: -
SP8:

Relevant External Links for IDH1 Gene

GeneLoc Exon Structure for
IDH1
ECgene alternative splicing isoforms for
IDH1

Expression for IDH1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for IDH1 Gene



SOURCE GeneReport for Unigene cluster for IDH1 Gene Hs.593422

genes like me logo Genes that share expression patterns with IDH1: view

Protein tissue co-expression partners for IDH1 Gene

Primer Products

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
cow
(Bos Taurus)
Mammalia IDH1 35
  • 91.14 (n)
  • 95.65 (a)
IDH1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IDH1 35
  • 92.83 (n)
  • 96.86 (a)
IDH1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Idh1 35
  • 90.42 (n)
  • 95.65 (a)
Idh1 16
Idh1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia IDH1 35
  • 99.28 (n)
  • 99.52 (a)
IDH1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Idh1 35
  • 90.42 (n)
  • 96.38 (a)
oppossum
(Monodelphis domestica)
Mammalia IDH1 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IDH1 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves IDH1 35
  • 80 (n)
  • 90 (a)
IDH1 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IDH1 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17063 35
zebrafish
(Danio rerio)
Actinopterygii idh1 35
  • 74.24 (n)
  • 82.85 (a)
zgc66318 35
idh1 36
  • 79 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006660 35
  • 67.88 (n)
  • 76.03 (a)
fruit fly
(Drosophila melanogaster)
Insecta Idh 35
  • 67.56 (n)
  • 72.62 (a)
Idh 36
  • 62 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C34F6.8 37
  • 66 (a)
F59B8.2 37
  • 74 (a)
idh-1 35
  • 67.24 (n)
  • 75.98 (a)
idh-1 36
  • 71 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER061C 35
  • 62.46 (n)
  • 65.91 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B03355g 35
  • 65.31 (n)
  • 69.9 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IDP1 35
  • 63.61 (n)
  • 68.62 (a)
IDP1 36
  • 63 (a)
ManyToMany
IDP2 36
  • 61 (a)
ManyToMany
IDP3 36
  • 58 (a)
ManyToMany
IDP1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons cICDH 35
  • 63.48 (n)
  • 68.26 (a)
rice
(Oryza sativa)
Liliopsida Os01g0654500 35
  • 64.16 (n)
  • 68.92 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.1053 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8505 35
bread mold
(Neurospora crassa)
Ascomycetes NCU03857 35
  • 64.48 (n)
  • 70.28 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes idp1 35
  • 62.12 (n)
  • 66.16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8995 36
  • 73 (a)
OneToOne
Species with no ortholog for IDH1:
  • 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

ENSEMBL:
Gene Tree for IDH1 (if available)
TreeFam:
Gene Tree for IDH1 (if available)

Paralogs for IDH1 Gene

Paralogs for IDH1 Gene

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

Pseudogenes.org 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 Sequence Context AA Info Type
VAR_036013 Colorectal cancer
rs34218846 - 208,243,593(+) GGCAA(C/T)ACCAC reference, missense
VAR_055454 A glioma sample
VAR_055455 A glioma sample
VAR_055456 A glioma sample

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

Variant ID Type Subtype PubMed ID
nsv834517 CNV Loss 17160897
nsv875751 CNV Gain 21882294
nsv525747 CNV Loss 19592680

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)

Relevant External Links for IDH1 Gene

HapMap Linkage Disequilibrium report
IDH1
Human Gene Mutation Database (HGMD)
IDH1

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

Disorders for IDH1 Gene

MalaCards: The human disease database

(49) MalaCards diseases for IDH1 Gene - From: OMIM, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glioma susceptibility 1
  • glioma somatic
metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria
maffucci syndrome
  • dyschondrodysplasia with hemangiomas
ollier disease
  • maffucci syndrome
glioma
- elite association - COSMIC cancer census association via MalaCards
Search IDH1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IDHC_HUMAN
  • 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}.

Relevant External Links for IDH1

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

No data available for Genatlas for IDH1 Gene

Publications for IDH1 Gene

  1. Analysis of IDH1 and IDH2 mutations in Japanese glioma patients. (PMID: 19765000) Sonoda Y. … Tominaga T. (Cancer Sci. 2009) 3 23 48 67
  2. Segregation of non-p.R132H mutations in IDH1 in distinct molecular subtypes of glioma. (PMID: 20077503) Gravendeel L.A. … French P.J. (Hum. Mutat. 2010) 3 23
  3. Distinct clinical and biologic characteristics in adult acute myeloid leukemia bearing the isocitrate dehydrogenase 1 mutation. (PMID: 20097881) Chou W.C. … Tien H.F. (Blood 2010) 3 23
  4. The prognostic IDH1( R132 ) mutation is associated with reduced NADP+-dependent IDH activity in glioblastoma. (PMID: 20127344) Bleeker F.E. … Van Noorden C.J. (Acta Neuropathol. 2010) 3 23
  5. 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 Neuropathol. 2010) 3 23

Products for IDH1 Gene

  • Addgene plasmids for IDH1

Sources for IDH1 Gene

Content