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Description for Protein FH

fumarate hydratase
1 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 5/0)
(microparticles: 1; platelet: 3; secretome: 2)
Summary:
The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    4.2.1.2
    KEGG - Orthology:
    K01679
    KEGG - Pathway(s):
    hsa00020; hsa01100; hsa05200; hsa05211
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Fumarate hydratase; Fumarate hydratase, cytosolic; Fumarate hydratase, mitochondrial; EC 4.2.1.2
    Approved Symbol:
    FH
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 3
    Human (de-) phosphorylation sites: 3; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Fumarase deficiency(Pd);
  • Leiomyomatosis and renal cell cancer(Pd);
  • Multiple cutaneous and uterine leiomyomata(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00652 Entrez Gene ID: 2271 OMIM ID: 136850 Swissprot Accession: P07954; B1ANK7;