MGP Database

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MGP001553

UniProt Annotations

Entry Information
Gene Nameisocitrate dehydrogenase 2 (NADP+), mitochondrial
Protein EntryIDHP_HUMAN
UniProt IDP48735
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P48735-1; Sequence=Displayed; Name=2; IsoId=P48735-2; Sequence=VSP_056278; Note=No experimental confirmation available.;
Catalytic ActivityIsocitrate + NADP(+) = 2-oxoglutarate + CO(2) + NADPH.
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000250}; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence={ECO:0000250}; Note=Binds 1 Mg(2+) or Mn(2+) ion per subunit. {ECO:0000250};
DiseaseD-2-hydroxyglutaric aciduria 2 (D2HGA2) [MIM:613657]: A neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine. {ECO:0000269|PubMed:20847235}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionPlays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex.
PtmAcetylation at Lys-413 dramatically reduces catalytic activity. Deacetylated by SIRT3. {ECO:0000269|PubMed:19608861, ECO:0000269|PubMed:22416140}.
SimilarityBelongs to the isocitrate and isopropylmalate dehydrogenases family. {ECO:0000305}.
Subcellular LocationMitochondrion.
SubunitHomodimer.
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