Human Gene FTCD (ENST00000291670.9) from GENCODE V44
Description: Homo sapiens formimidoyltransferase cyclodeaminase (FTCD), transcript variant B, mRNA. (from RefSeq NM_006657) RefSeq Summary (NM_006657): The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009]. Gencode Transcript: ENST00000291670.9 Gencode Gene: ENSG00000160282.15 Transcript (Including UTRs) Position: hg38 chr21:46,136,262-46,155,567 Size: 19,306 Total Exon Count: 15 Strand: - Coding Region Position: hg38 chr21:46,136,987-46,155,523 Size: 18,537 Coding Exon Count: 14
ID:FTCD_HUMAN DESCRIPTION: RecName: Full=Formimidoyltransferase-cyclodeaminase; AltName: Full=Formiminotransferase-cyclodeaminase; Short=FTCD; AltName: Full=LCHC1; Includes: RecName: Full=Glutamate formimidoyltransferase; EC=2.1.2.5; AltName: Full=Glutamate formiminotransferase; AltName: Full=Glutamate formyltransferase; Includes: RecName: Full=Formimidoyltetrahydrofolate cyclodeaminase; EC=4.3.1.4; AltName: Full=Formiminotetrahydrofolate cyclodeaminase; FUNCTION: Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool. FUNCTION: Binds and promotes bundling of vimentin filaments originating from the Golgi (By similarity). CATALYTIC ACTIVITY: 5-formimidoyltetrahydrofolate + L-glutamate = tetrahydrofolate + N-formimidoyl-L-glutamate. CATALYTIC ACTIVITY: 5-formyltetrahydrofolate + L-glutamate = tetrahydrofolate + N-formyl-L-glutamate. CATALYTIC ACTIVITY: 5-formimidoyltetrahydrofolate = 5,10- methenyltetrahydrofolate + NH(3). COFACTOR: Pyridoxal phosphate. PATHWAY: Amino-acid degradation; L-histidine degradation into L- glutamate; L-glutamate from N-formimidoyl-L-glutamate (transferase route): step 1/1. PATHWAY: One-carbon metabolism; tetrahydrofolate interconversion. SUBUNIT: Homooctamer, including four polyglutamate binding sites. The subunits are arranged as a tetramer of dimers, and form a planar ring-shaped structure (By similarity). SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome, centriole. Golgi apparatus (By similarity). Note=More abundantly located around the mother centriole. DISEASE: Defects in FTCD are the cause of glutamate formiminotransferase deficiency (FIGLU-URIA) [MIM:229100]; also known as formiminoglutamicaciduria (FIGLU-uria). It is an 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. SIMILARITY: In the C-terminal section; belongs to the cyclodeaminase/cyclohydrolase family. SIMILARITY: In the N-terminal section; belongs to the formiminotransferase family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O95954
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006547 histidine metabolic 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:0035999 tetrahydrofolate interconversion GO:0044237 cellular metabolic process