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Aliases for IDH1 Gene

Aliases for IDH1 Gene

  • 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
  • Isocitrate Dehydrogenase [NADP] Cytoplasmic 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 1 (NADP+), Soluble) is a Protein Coding gene. Diseases associated with IDH1 include metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria and ollier disease. Among its related pathways are Disease and Metabolism. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for IDH1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 1 Mg(2+) or Mn(2+) ion per subunit.;
    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 Lys126, Lys224, Lys233, and Lys321
  • Modification sites at PhosphoSitePlus

Other Protein References for IDH1 Gene

Antibody Products

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

Protein Products

Domains for IDH1 Gene

Graphical View of Domain Structure for InterPro Entry

O75874

UniProtKB/Swiss-Prot:

IDHC_HUMAN :
  • O75874
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:0000287 magnesium ion binding IDA 19935646
GO:0004450 isocitrate dehydrogenase (NADP+) activity IDA 10521434
GO:0005102 receptor binding IPI 20178365
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor --
GO:0042803 protein homodimerization activity IPI 19935646
genes like me logo Genes that share ontologies with IDH1: view

Phenotypes for IDH1 Gene

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

Animal Model Products

miRNA for IDH1 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IDH1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting 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
peroxisome 5
mitochondrion 2
nucleus 2
chloroplast 1
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for IDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA --
GO:0005777 peroxisome IDA 10521434
GO:0005782 peroxisomal matrix TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with IDH1: view

Pathways for IDH1 Gene

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

Pathways by source for IDH1 Gene

1 Cell Signaling Technology pathway for IDH1 Gene
1 BioSystems pathway for IDH1 Gene

PCR Array Products

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 10521434
GO:0006103 2-oxoglutarate metabolic process TAS --
GO:0006740 NADPH regeneration TAS --
genes like me logo Genes that share ontologies with IDH1: view

Compounds for IDH1 Gene

(1) ApexBio Compounds for IDH1 Gene

Compound Action Cas Number
AGI-5198 "IDH1 inhibitor against R132 mutant,selective and cell-permeable" [1355326-35-0]

(8) HMDB Compounds for IDH1 Gene

Compound Synonyms Cas Number PubMed IDs
Carbon dioxide
  • Carbon oxide
124-38-9
Isocitric acid
  • 1-Hydroxy-1,2,3-propanetricarboxylate
320-77-4
Magnesium
  • Magnesium
7439-95-4
Manganese
  • manganese
7439-96-5
NADP
  • Adenine-nicotinamide dinucleotide phosphate
53-59-8

(2) Drugbank Compounds for IDH1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
2'-Monophosphoadenosine 5'-Diphosphoribose
target
Isocitric Acid
320-77-4 target

(14) Novoseek inferred chemical compound relationships for IDH1 Gene

Compound -log(P) Hits PubMed IDs
isocitrate 96.2 61
2-hydroxyglutarate 87.9 8
alpha-ketoglutarate 75.4 10
nadp+ 62.1 5
glucose 6-phosphate 51.9 4
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IDH1

Primer Products

Flow Cytometry Products

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Adrenal Gland (6.5) and Liver (4.9).

Protein differential expression in normal tissues for IDH1 Gene

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

Integrated Proteomics: protein expression 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 expressions with IDH1: view

Expression partners for IDH1 Gene

In Situ Assay Products

No data available for 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

Selected 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 MAF
rs3778 -- 208,237,079(-) CTTTA(A/C)GTTCA reference, stop-lost
rs13026 -- 208,236,587(-) GAAGT(A/T)TGAGT utr-variant-3-prime
rs15344 -- 208,236,372(-) TGCAA(C/T)AATGT utr-variant-3-prime
rs966730 -- 208,252,574(-) AAAAG(A/C)GTTTC intron-variant
rs1044416 -- 208,236,743(-) TGATA(A/G)CCACA utr-variant-3-prime

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

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

(1) OMIM Diseases for IDH1 Gene (147700)

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. 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.

(8) Novoseek inferred disease relationships for IDH1 Gene

Disease -log(P) Hits PubMed IDs
oligodendroglioma 76.8 12
glioma 73.1 43
glioblastoma 69.9 28
astrocytoma 61.2 11
pilocytic astrocytoma 59.6 2

Relevant External Links for IDH1

Genetic Association Database (GAD)
IDH1
Human Genome Epidemiology (HuGE) Navigator
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. Structures of human cytosolic NADP-dependent isocitrate dehydrogenase reveal a novel self-regulatory mechanism of activity. (PMID: 15173171) Xu X. … Ding J. (J. Biol. Chem. 2004) 3 4 23
  2. The human PICD gene encodes a cytoplasmic and peroxisomal NADP(+)- dependent isocitrate dehydrogenase. (PMID: 10521434) Geisbrecht B.V. … Gould S.J. (J. Biol. Chem. 1999) 3 4 23
  3. An integrated genomic analysis of human glioblastoma multiforme. (PMID: 18772396) Parsons D.W. … Kinzler K.W. (Science 2008) 3 4 23
  4. IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors. (PMID: 19117336) Bleeker F.E. … Bardelli A. (Hum. Mutat. 2009) 3 4 23
  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 Neuropathol. 2009) 3 23 48

Products for IDH1 Gene

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