MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP004374

UniProt Annotations

Entry Information
Gene Nameformimidoyltransferase cyclodeaminase
Protein EntryFTCD_HUMAN
UniProt IDO95954
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=A; IsoId=O95954-1; Sequence=Displayed; Name=C; IsoId=O95954-2; Sequence=VSP_004260; Name=D; IsoId=O95954-3; Sequence=VSP_004259; Name=E; IsoId=O95954-4; Sequence=VSP_004257, VSP_004258; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.;
Catalytic Activity5-formimidoyltetrahydrofolate = 5,10- methenyltetrahydrofolate + NH(3).
Catalytic Activity5-formimidoyltetrahydrofolate + L-glutamate = tetrahydrofolate + N-formimidoyl-L-glutamate.
Catalytic Activity5-formyltetrahydrofolate + L-glutamate = tetrahydrofolate + N-formyl-L-glutamate.
CofactorName=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
DiseaseGlutamate formiminotransferase deficiency (FIGLU-URIA) [MIM:229100]: Autosomal recessive disorder. Features of a severe phenotype, include elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic anemia, and mental retardation. Features of a mild phenotype include high urinary excretion of FIGLU in the absence of histidine administration, mild developmental delay, and no hematological abnormalities. {ECO:0000269|PubMed:12815595}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionBinds and promotes bundling of vimentin filaments originating from the Golgi. {ECO:0000250}.
FunctionFolate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool.
PathwayAmino-acid degradation; L-histidine degradation into L- glutamate; L-glutamate from N-formimidoyl-L-glutamate (transferase route): step 1/1.
PathwayOne-carbon metabolism; tetrahydrofolate interconversion.
SimilarityIn the C-terminal section; belongs to the cyclodeaminase/cyclohydrolase family. {ECO:0000305}.
SimilarityIn the N-terminal section; belongs to the formiminotransferase family. {ECO:0000305}.
Subcellular LocationCytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:16534631}. Golgi apparatus {ECO:0000250}. Note=More abundantly located around the mother centriole.
SubunitHomooctamer, including four polyglutamate binding sites. The subunits are arranged as a tetramer of dimers, and form a planar ring-shaped structure (By similarity). {ECO:0000250}.
  logo