FTCD - formimidoyltransferase cyclodeaminase Gene

Also Known as LCHC1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10841

About FTCD

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:46,136,262-46,155,579 (from NCBI)

This gene has 12 transcripts (splice variants), 1 gene allele, 197 orthologues, 1 paralogue and is associated with 3 phenotypes. Biased expression in liver (RPKM 54.7), kidney (RPKM 35.5) and 1 other tissue.

Summary

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]

FTCD Products (3)

mRNA	Protein	Name
NM_001320412.2	NP_001307341.1	formimidoyltransferase-cyclodeaminase isoform C
NM_006657.3	NP_006648.1	formimidoyltransferase-cyclodeaminase isoform A
NM_206965.2	NP_996848.1	formimidoyltransferase-cyclodeaminase isoform A

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables glutamate formimidoyltransferase activity	IDA IDA: Inferred from direct assay	12815595	GOA
enables microtubule binding	IDA IDA: Inferred from direct assay	14697341	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi membrane	IDA IDA: Inferred from direct assay	14697341	GOA
located in cytosol	IDA IDA: Inferred from direct assay	14697341	GOA
located in smooth endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	14697341	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FTCD Protein Structure

FTCD_N

FTCD

FTCD_C

0
100
200
300
400
500
541 a.a.

Protein Preferred Names	Protein Names
formimidoyltransferase-cyclodeaminase	formiminotransferase-cyclodeaminase

FTCD Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FTCD	O95954	CCDC183	Homo sapiens	G5E9W6	Y2H Prey Pooling	32296183
Intra	FTCD	O95954	CCDC183	Homo sapiens	G5E9W6	Y2H Array	32296183
Intra	FTCD	O95954	PALS1	Homo sapiens	Q8N3R9	Validated Y2H	32296183
Intra	FTCD	O95954	MED4	Homo sapiens	Q9NPJ6	Y2H Array	25416956
Intra	FTCD	O95954	AGR2	Homo sapiens	O95994	Y2H Array	32296183
Intra	FTCD	O95954	AGR2	Homo sapiens	O95994	Y2H Prey Pooling	32296183
Intra	FTCD	O95954	AGR2	Homo sapiens	O95994	Validated Y2H	32296183
Intra	FTCD	O95954	KASH5	Homo sapiens	Q8N6L0	Validated Y2H	25416956
Intra	FTCD	O95954	KASH5	Homo sapiens	Q8N6L0	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant FTCD Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76352	FTCD Protein, Human (sf9, His)	O95954-1 (M1-E541)	≥ 90%, as determined by reducing SDS-PAGE.

FTCD Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83468	FTCD Antibody (YA3213)	WB, IHC-P, FC	Human

Related Diseases

Diseases	Alias
Glutamate Formiminotransferase Deficiency	Formiminoglutamic Aciduria Formiminotransferase Deficiency FIGLU-URIA Arakawa Syndrome 1 Formiminoglutamic Acidemia Formiminotransferase Cyclodeaminase Deficiency Formiminotransferase Deficiency Syndrome Ftcd Deficiency Formiminoglutamicaciduria Figluria
Autoimmune Hepatitis	Aih Hepatitis, Autoimmune Autoimmune Chronic Active Hepatitis Autoimmune Hepatitis With Centrilobular Necrosis Autoimmune Chronic Hepatitis Hepatitis Autoimmune
Schindler Disease, Type I	Schindler Disease Type 1 Alpha-N-Acetylgalactosaminidase Deficiency Type 1 Schindler Disease Type 3 Alpha-N-Acetylgalactosaminidase Deficiency Type 3 Naga Deficiency Type 3 Neuroaxonal Dystrophy, Schindler Type Naga Deficiency Type 1 Alpha-N-Acetylgalactosaminidase Deficiency, Type I Naga Deficiency, Type I Schindler Disease, Type Iii N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type Iii Alpha-N-Acetylgalactosaminidase Deficiency, Type 1 Naga Deficiency, Type 1 Schindler Disease Type I Schindler Disease SCHIND Schindler Disease, Type 3 Schindler Disease, Type 1
Amelogenesis Imperfecta, Type Ib	AI1B Aih2 Amelogenesis Imperfecta Type 1b Amelogenesis Imperfecta Type Ib Hereditary Localized Enamel Hypoplasia Amelogenesis Imperfecta - Hypoplastic Autosomal Dominant - Local Amelogenesis Imperfecta, Hypoplastic Local, Autosomal Dominant Enamel Hypoplasia, Hereditary Localized Autosomal Dominant Hypoplastic Local Amelogenesis Imperfecta Amelogenesis Imperfecta 1b Amelogenesis Imperfecta Hypoplastic 2 Amelogenesis Imperfecta Hypoplastic Local Autosomal Dominant
Amelogenesis Imperfecta, Type Ie	Aih1 Amelogenesis Imperfecta Type 1e AI1E Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1 Amelogenesis Imperfecta, Hypomaturation Type, With Snow-Capped Teeth Enamel Hypoplasia, X-Linked Amelogenesis Imperfecta Type Ie Amelogenesis Imperfecta Hypoplastic/Hypomaturation X-Linked 1 Enamel Hypoplasia X-Linked Amelogenesis Imperfecta, X-Linked 1 Amelogenesis Imperfecta, Type 1e Amelogenesis Imperfecta Hypomaturationtype With Snow-Capped Teeth X-Linked Amelogenesis Imperfecta 1 X-Linked Amelogenesis Imperfecta Hypoplastic/Hypomaturation 1 X-Linked Enamel Hypoplasia Amelogenesis Imperfecta X-Linked 1 Amelogenesis Imperfecta 1e Amelogenesis Imperfecta, Hypoplastic/Hypomaturation Type 1e Amelogenesis Imperfecta Hypomaturation Type With Snow-Capped Teeth Xai X-Linked Amelogenesis Imperfecta Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Megaloblastic Anemia	Imerslund-Grasbeck Syndrome Igs Defect Of Enterocyte Intrinsic Factor Receptor Enterocyte Cobalamin Malabsorption Familial Megaloblastic Anemia Megaloblastic Anemia 1 Selective Cobalamin Malabsorption With Proteinuria Imerslund-Gräsbeck Syndrome Anemia, Megaloblastic Grasbeck-Imerslund Syndrome Megaloblastic Anaemia Mga1 Norwegian Type Recessive Hereditary Megaloblastic Anaemia 1 Recessive Hereditary Megaloblastic Anemia 1 Rh-Mga1 Gräsbeck-Imerslund Disease Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12 Anemia Megaloblastic Megaloblastic Anemia Due To Inborn Errors Of Metabolism 3-@Methylglutaconic Aciduria, Type I
Trombiculiasis
Glycine N-Methyltransferase Deficiency	GNMT DEFICIENCY Hypermethioninemia Due To Glycine N-Methyltransferase Deficiency Hypermethioninemia Due To Gnmt Deficiency Hypermethioninemia Hepatic Methionine Adenosyltransferase Deficiency
Tobacco Addiction	Nicotine Dependence Tobacco Addiction, Susceptibility To Nicotine Addiction Tobacco Use Disorder Smoking Habit Nicotine Dependence, Protection Against Nicotine Addiction, Protection From Cigarette Habituation Cigarette Habituation, Susceptibility To Smoking Habit, Susceptibility To Nicotine Dependence, Susceptibility To Nicotine Addiction, Susceptibility To Addiction, Tobacco, Susceptibility To Compulsive Tobacco User Syndrome Tobacco Dependence Tobacco Dependence Syndrome Cigarette Addiction Cigarette Dependence Smoking Addiction Smokers Syndrome
Histidine Metabolism Disease	Disturbances Of Histidine Metabolism Disorder Of Histidine Metabolism Disturbance Of Histidine Metabolism
Substance Dependence
Glycogen Storage Disease	Glycogenosis Glycogenoses Gsd Storage Disease, Glycogen Gsd - [Glycogen Storage Disease] Glycogen Thesaurismosis Diffuse Glycogenosis Generalised Glycogen Storage Disease Generalised Glycogenosis Generalised Glycogen Storage Disease Of Infants Glycogen Synthase Deficiency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05132	FTCD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19601	Ftcd Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26097	Ftcd Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	FTCD	MGD	MGI:1339962
Macaca mulatta	FTCD	VGNC	VGNC:72825
Bos taurus	FTCD	VGNC	VGNC:29137
Rattus norvegicus	FTCD	RGD	RGD:70915
Felis catus	FTCD	VGNC	VGNC:62383
Canis familiaris	FTCD	VGNC	VGNC:41002
Others	FTCD	NCBI