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Description for Protein MTRR

5-methyltetrahydrofolate-homocysteine methyltransferase reductase
1 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
Methionine is an essential amino acid required for protein synthesis and one-carbon metabolism. Its synthesis is catalyzed by the enzyme methionine synthase. Methionine synthase eventually becomes inactive due to the oxidation of its cob(I)alamin cofactor. The protein encoded by this gene regenerates a functional methionine synthase via reductive methylation. It is a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. Patients of the cbl-E complementation group of disorders of folate/cobalamin metabolism are defective in reductive activation of methionine synthase. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
1.16.1.8
KEGG - Orthology:
K00597
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
MSR; [methionine synthase]-cobalamin methyltransferase (cob (II) alamin reducing); Methionine synthase reductase; Methionine synthase reductase isoform 2; Methionine synthase reductase isoform 1; EC 1.16.1.8; Methionine synthase reductase, Mitochondrial [Precursor]
Approved Symbol:
MTRR
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 6
Human (de-) phosphorylation sites: 6; 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):

  • Cyanocobalamin(db);
  • Hydroxocobalamin(db);
  • L-Methionine(db)

    Associated Genetic Diseases:

  • Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cble complementation type(Pd);
  • Neural tube defects, folate-sensitive, susceptibiilty to(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03979 Entrez Gene ID: 4552 OMIM ID: 602568 Swissprot Accession: Q9UBK8; Q7Z4M8;