Formimidoyltransferase cyclodeaminase

FTCD
Identifiers
Aliases	FTCD, LCHC1, formimidoyltransferase cyclodeaminase
External IDs	OMIM: 606806; MGI: 1339962; GeneCards: FTCD
Enzyme activity
Gene location (Human)
Chr.	Chromosome 21 (human)
End	46,155,579 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	76,426,172 bp
RNA expression pattern
	Top expressed in
	right lobe of liver; ; human kidney; ; right testis; ; left testis; ; kidney tubule; ; putamen; ; nucleus accumbens; ; right frontal lobe; ; caudate nucleus; ; renal cortex;
	Top expressed in
	left lobe of liver; ; right kidney; ; proximal tubule; ; human kidney; ; sexually immature organism; ; atrioventricular junction; ; embryo; ; yolk sac; ; atrium; ; atrioventricular valve;
	More reference expression data
	n/a
Gene ontology
Molecular function	transferase activity; microtubule binding; folic acid binding; protein binding; catalytic activity; lyase activity; formimidoyltetrahydrofolate cyclodeaminase activity; glutamate formimidoyltransferase activity;
Cellular component	cytoplasm; cytosol; Golgi apparatus; Golgi membrane; smooth endoplasmic reticulum membrane; endoplasmic reticulum; centriole; extracellular exosome; cytoskeleton; endoplasmic reticulum-Golgi intermediate compartment; plasma membrane;
Biological process	histidine metabolic process; histidine catabolic process to glutamate and formate; tetrahydrofolate interconversion; cell metabolism; cytoskeleton organization; histidine catabolic process; metabolism; histidine catabolic process to glutamate and formamide; folic acid-containing compound metabolic process;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	10841
	14317
	ENSG00000160282; ENSG00000281775
	ENSMUSG00000001155
	O95954
	Q91XD4
	NM_006657; NM_206965; NM_001320412
	NM_080845
	NP_001307341; NP_006648; NP_996848
	NP_543121
	Wikidata
View/Edit Human	View/Edit Mouse

Formimidoyltransferase cyclodeaminase or formiminotransferase cyclodeaminase (gene symbol FTCD in humans) is a bifunctional enzyme that catalyzes the following reactions:^[5]

conversion of formiminoglutamate and tetrahydrofolate into formiminotetrahydrofolate and glutamate (glutamate formimidoyltransferase activity, EC 2.1.2.5)
subsequent deamination of formiminotetrahydrofolate to 5,10-methenyltetrahydrofolate and ammonia (formimidoyltetrahydrofolate cyclodeaminase activity, EC 4.3.1.4)

Its name comes from the two activities it catalyzes.

Role in pathology

Mutations of the FTCD gene cause glutamate formiminotransferase deficiency.^[5]

References

1 2 3 ENSG00000281775 GRCh38: Ensembl release 89: ENSG00000160282, ENSG00000281775 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000001155 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Glutamate formiminotransferase deficiency". NIH. GARD. August 10, 2016. Archived from the original on December 29, 2016. Retrieved December 21, 2020.

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[refGRCh38Ensembl-1] 1 2 3 ENSG00000281775 GRCh38: Ensembl release 89: ENSG00000160282, ENSG00000281775 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000001155 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[:0-5] 1 2 "Glutamate formiminotransferase deficiency". NIH. GARD. August 10, 2016. Archived from the original on December 29, 2016. Retrieved December 21, 2020.

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[5]

v t e Carbon–nitrogen lyases (EC 4.3)
4.3.1: ammonia-lyases	Histidine ammonia-lyase Formimidoyltransferase cyclodeaminase Serine dehydratase Phenylalanine ammonia-lyase
4.3.2: amidine-lyases	Argininosuccinate lyase Adenylosuccinate lyase

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Formimidoyltransferase cyclodeaminase

Role in pathology

See also

References