Homo sapiens Protein: FTCD
Summary
InnateDB Protein IDBP-234650.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FTCD
Protein Name formiminotransferase cyclodeaminase
Synonyms LCHC1;
Species Homo sapiens
Ensembl Protein ENSP00000380856
InnateDB Gene IDBG-6187 (FTCD)
Protein Structure
UniProt Annotation
Function Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool.Binds and promotes bundling of vimentin filaments originating from the Golgi. {ECO:0000250}.
Subcellular Localization Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269PubMed:16534631}. Golgi apparatus {ECO:0000250}. Note=More abundantly located around the mother centriole.
Disease Associations Glutamate 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:0000269PubMed:12815595}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0005542 folic acid binding
GO:0016740 transferase activity
GO:0030409 glutamate formimidoyltransferase activity
GO:0030412 formimidoyltetrahydrofolate cyclodeaminase activity
Biological Process
GO:0006548 histidine catabolic process
GO:0006760 folic acid-containing compound metabolic process
GO:0008152 metabolic process
GO:0019556 histidine catabolic process to glutamate and formamide
GO:0019557 histidine catabolic process to glutamate and formate
GO:0034641 cellular nitrogen compound metabolic process
GO:0035999 tetrahydrofolate interconversion
GO:0044237 cellular metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005814 centriole
GO:0005829 cytosol
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR004227 Formiminotransferase catalytic domain
IPR007044 Cyclodeaminase/cyclohydrolase
IPR012886 Formiminotransferase, N-terminal subdomain
IPR013802 Formiminotransferase, C-terminal subdomain
IPR022384 Formiminotransferas, N- and C-terminal subdomains
PFAM PF04961
PF07837
PF02971
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O95954
PhosphoSite PhosphoSite-O95954
TrEMBL
UniProt Splice Variant
Entrez Gene 10841
UniGene Hs.415846
RefSeq
HUGO HGNC:3974
OMIM 606806
CCDS
HPRD 08430
IMGT
EMBL AF169017 AF289021 AF289022 AF289023 AF289024 BC052248 BC136383 BC136395 U91541
GenPept AAD15627 AAF15558 AAG01852 AAG01853 AAG01854 AAG01855 AAH52248 AAI36384 AAI36396