MGP Database

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MGP001552

UniProt Annotations

Entry Information
Gene Nameisocitrate dehydrogenase 1 (NADP+), soluble
Protein EntryIDHC_HUMAN
UniProt IDO75874
SpeciesHuman
Comments
Comment typeDescription
Biophysicochemical PropertiesKinetic 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};
Catalytic ActivityIsocitrate + NADP(+) = 2-oxoglutarate + CO(2) + NADPH. {ECO:0000269|PubMed:19935646}.
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000269|PubMed:19935646}; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence={ECO:0000269|PubMed:19935646}; Note=Binds 1 Mg(2+) or Mn(2+) ion per subunit. {ECO:0000269|PubMed:19935646};
DiseaseGlioma (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.
PtmAcetylation at Lys-374 dramatically reduces catalytic activity. {ECO:0000250}.
SimilarityBelongs to the isocitrate and isopropylmalate dehydrogenases family. {ECO:0000305}.
Subcellular LocationCytoplasm {ECO:0000269|PubMed:10521434}. Peroxisome {ECO:0000269|PubMed:10521434}.
SubunitHomodimer. {ECO:0000269|PubMed:15173171, ECO:0000269|PubMed:19935646}.
Web ResourceName=Wikipedia; Note=Isocitrate dehydrogenase entry; URL="http://en.wikipedia.org/wiki/Isocitrate_dehydrogenase";
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