| Tissue Specificity | Expressed in red blood cells.underexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology. |
| Post Translational Modifications | Isoform Cytoplasmic: Phosphorylation at Thr-236 by PRKDC in response to DNA damage promotes translocation to the nucleus and recruitment to DNA double-strand breaks (DSBs). |
| Function | Catalyzes the reversible stereospecific interconversion of fumarate to L-malate. Experiments in other species have demonstrated that specific isoforms of this protein act in defined pathways and favor one direction over the other (Probable). Isoform Mitochondrial: Catalyzes the hydration of fumarate to L-malate in the tricarboxylic acid (TCA) cycle to facilitate a transition step in the production of energy in the form of NADH. Isoform Cytoplasmic: Catalyzes the dehydration of L-malate to fumarate. Fumarate metabolism in the cytosol plays a role during urea cycle and arginine metabolism.fumarate being a by-product of the urea cycle and amino-acid catabolism. Also plays a role in DNA repair by promoting non-homologous end-joining (NHEJ). In response to DNA damage and phosphorylation by PRKDC, translocates to the nucleus and accumulates at DNA double-strand breaks (DSBs): acts by catalyzing formation of fumarate, an inhibitor of KDM2B histone demethylase activity, resulting in enhanced dimethylation of histone H3 'Lys-36' (H3K36me2). |
| Protein Name | Fumarate Hydratase - MitochondrialFumaraseHsfh |
| Database Links | Reactome: R-HSA-71403Reactome: R-HSA-9837999 |
| Cellular Localisation | Isoform Mitochondrial: MitochondrionIsoform Cytoplasmic: CytoplasmCytosolNucleusChromosomeTranslocates To The Nucleus In Response To Dna Damage: Localizes To Dna Double-Strand Breaks (Dsbs) Following Phosphorylation By Prkdc |
| Alternative Protein Names | Fumarate Hydratase - Mitochondrial proteinFumarase proteinHsfh proteinFH protein |
Information sourced from Uniprot.org
