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Description for Protein MTHFD1

methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
4 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 4/1)
(microparticles: 1; platelet: 2; secretome: 1; undefined: 1)
Summary:
This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
1.5.1.5; 3.5.4.9; 6.3.4.3
KEGG - Orthology:
K00288
KEGG - Pathway(s):
hsa00630; hsa00670; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Methylenetetrahydrofolate dehydrogenase; Methenyltetrahydrofolate cyclohydrolase; Formyltetrahydrofolate synthetase, NADP(+)-dependent; Methyltetrahydrofolate cyclohydrolase; MTHFC; MTHFD; C1-THF synthase; C-1-tetrahydrofolate synthase, cytoplasmic
Approved Symbol:
MTHFD1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 2
Human (de-) phosphorylation sites: 2; 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):

  • 2'-Monophosphoadenosine 5'-Diphosphoribose(db);
  • Acetate Ion(db);
  • LY249543(db);
  • LY374571(db);
  • NADH(db);
  • Tetrahydrofolic acid(db)

    Associated Genetic Diseases:

  • Neural tube defects, folate-sensitive, susceptibility to(Pd);
  • Spina bifida, folate-sensitive, susceptibility to(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01403 Entrez Gene ID: 4522 OMIM ID: 172460 Swissprot Accession: P11586;