Entity Details

Primary name FTCD_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO95954
EntryNameFTCD_HUMAN
FullNameFormimidoyltransferase-cyclodeaminase
TaxID9606
Evidenceevidence at protein level
Length541
SequenceStatuscomplete
DateCreated2000-05-30
DateModified2021-06-02

Ontological Relatives

GenesFTCD

GO terms

Show/Hide Table
GOName
GO:0000139 Golgi membrane
GO:0005542 folic acid binding
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0005794 Golgi apparatus
GO:0005814 centriole
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006548 histidine catabolic process
GO:0006760 folic acid-containing compound metabolic process
GO:0007010 cytoskeleton organization
GO:0008017 microtubule binding
GO:0019556 histidine catabolic process to glutamate and formamide
GO:0019557 histidine catabolic process to glutamate and formate
GO:0030409 glutamate formimidoyltransferase activity
GO:0030412 formimidoyltetrahydrofolate cyclodeaminase activity
GO:0030868 smooth endoplasmic reticulum membrane
GO:0035999 tetrahydrofolate interconversion
GO:0070062 extracellular exosome

Subcellular Location

Show/Hide Table
Subcellular Location
Cytoplasm
Golgi apparatus

Domains

Show/Hide Table
DomainNameCategoryType
IPR004227 Formiminotransferase catalytic domainDomainDomain
IPR007044 Cyclodeaminase/cyclohydrolaseDomainDomain
IPR012886 Formiminotransferase, N-terminal subdomainDomainDomain
IPR013802 Formiminotransferase, C-terminal subdomainDomainDomain
IPR022384 Formiminotransferase catalytic domain superfamilyFamilyHomologous superfamily
IPR036178 Formimidoyltransferase-cyclodeaminase-like superfamilyFamilyHomologous superfamily
IPR037064 Formiminotransferase, N-terminal subdomain superfamilyFamilyHomologous superfamily
IPR037070 Formiminotransferase, C-terminal subdomain superfamilyFamilyHomologous superfamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
229100 OMIMGlutamate formiminotransferase deficiency (FIGLU-URIA)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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

Show/Hide Table
DrugNameSourceType
DB00116 Tetrahydrofolic acidDrugbanksmall molecule
DB00142 Glutamic acidDrugbanksmall molecule
DB03256 (6R)-Folinic acidDrugbanksmall molecule