Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10841
Gene name	Formimidoyltransferase cyclodeaminase
Gene symbol	FTCD
Synonyms (NCBI Gene)	LCHC1
Chromosome	21
Chromosome location	21q22.3
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 formiminotransferas

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs149266909	A>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, synonymous variant, genic downstream transcript variant, missense variant
rs200283734	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs398124234	->C	Pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity	Frameshift variant, coding sequence variant, non coding transcript variant
rs777099958	->C	Conflicting-interpretations-of-pathogenicity	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant

Show/Hide all (72)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018835	hsa-miR-335-5p	Microarray	18185580
MIRT715545	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT715544	hsa-miR-668-3p	HITS-CLIP	19536157
MIRT715543	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT715542	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT715541	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT715540	hsa-miR-1976	HITS-CLIP	19536157
MIRT715539	hsa-miR-7155-5p	HITS-CLIP	19536157
MIRT715538	hsa-miR-193b-5p	HITS-CLIP	19536157
MIRT715537	hsa-miR-3170	HITS-CLIP	19536157
MIRT715536	hsa-miR-6855-5p	HITS-CLIP	19536157
MIRT715545	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT715544	hsa-miR-668-3p	HITS-CLIP	19536157
MIRT715543	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT715542	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT715541	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT715540	hsa-miR-1976	HITS-CLIP	19536157
MIRT715539	hsa-miR-7155-5p	HITS-CLIP	19536157
MIRT715538	hsa-miR-193b-5p	HITS-CLIP	19536157
MIRT715537	hsa-miR-3170	HITS-CLIP	19536157
MIRT715536	hsa-miR-6855-5p	HITS-CLIP	19536157
MIRT715545	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT715544	hsa-miR-668-3p	HITS-CLIP	19536157
MIRT715543	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT715542	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT715541	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT715540	hsa-miR-1976	HITS-CLIP	19536157
MIRT715539	hsa-miR-7155-5p	HITS-CLIP	19536157
MIRT715538	hsa-miR-193b-5p	HITS-CLIP	19536157
MIRT715537	hsa-miR-3170	HITS-CLIP	19536157
MIRT715536	hsa-miR-6855-5p	HITS-CLIP	19536157
MIRT715545	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT715544	hsa-miR-668-3p	HITS-CLIP	19536157
MIRT715543	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT715542	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT715541	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT715540	hsa-miR-1976	HITS-CLIP	19536157
MIRT715539	hsa-miR-7155-5p	HITS-CLIP	19536157
MIRT715538	hsa-miR-193b-5p	HITS-CLIP	19536157
MIRT715537	hsa-miR-3170	HITS-CLIP	19536157
MIRT715536	hsa-miR-6855-5p	HITS-CLIP	19536157
MIRT715545	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT715544	hsa-miR-668-3p	HITS-CLIP	19536157
MIRT715543	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT715542	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT715541	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT715540	hsa-miR-1976	HITS-CLIP	19536157
MIRT715539	hsa-miR-7155-5p	HITS-CLIP	19536157
MIRT715538	hsa-miR-193b-5p	HITS-CLIP	19536157
MIRT715537	hsa-miR-3170	HITS-CLIP	19536157
MIRT715536	hsa-miR-6855-5p	HITS-CLIP	19536157
MIRT715545	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT715544	hsa-miR-668-3p	HITS-CLIP	19536157
MIRT715543	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT715542	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT715541	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT715540	hsa-miR-1976	HITS-CLIP	19536157
MIRT715539	hsa-miR-7155-5p	HITS-CLIP	19536157
MIRT715538	hsa-miR-193b-5p	HITS-CLIP	19536157
MIRT715537	hsa-miR-3170	HITS-CLIP	19536157
MIRT715536	hsa-miR-6855-5p	HITS-CLIP	19536157
MIRT1005633	hsa-miR-1913	CLIP-seq
MIRT1005634	hsa-miR-3194-3p	CLIP-seq
MIRT1005635	hsa-miR-324-3p	CLIP-seq
MIRT1005636	hsa-miR-326	CLIP-seq
MIRT1005637	hsa-miR-330-5p	CLIP-seq
MIRT1005638	hsa-miR-4290	CLIP-seq
MIRT1005639	hsa-miR-4450	CLIP-seq
MIRT1005640	hsa-miR-4649-5p	CLIP-seq
MIRT1005641	hsa-miR-4667-5p	CLIP-seq
MIRT1005642	hsa-miR-4700-5p	CLIP-seq
MIRT1005643	hsa-miR-637	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	14697341
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	ISS
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005542	Function	Folic acid binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	10029623
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IEA
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	ISS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	ISS
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA	14697341
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0006547	Process	L-histidine metabolic process	IEA
GO:0006760	Process	Folic acid-containing compound metabolic process	TAS	10029623
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0008017	Function	Microtubule binding	IDA	14697341
GO:0008017	Function	Microtubule binding	IEA
GO:0008017	Function	Microtubule binding	ISS
GO:0016740	Function	Transferase activity	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0019556	Process	L-histidine catabolic process to glutamate and formamide	IEA
GO:0019557	Process	L-histidine catabolic process to glutamate and formate	IEA
GO:0030409	Function	Glutamate formimidoyltransferase activity	IDA	12815595
GO:0030409	Function	Glutamate formimidoyltransferase activity	IEA
GO:0030409	Function	Glutamate formimidoyltransferase activity	ISS
GO:0030412	Function	Formimidoyltetrahydrofolate cyclodeaminase activity	IEA
GO:0030412	Function	Formimidoyltetrahydrofolate cyclodeaminase activity	ISS
GO:0030868	Component	Smooth endoplasmic reticulum membrane	IDA	14697341
GO:0070062	Component	Extracellular exosome	HDA	19056867

MIM	HGNC	e!Ensembl
606806	3974	ENSG00000160282

O95954

Protein name

Formimidoyltransferase-cyclodeaminase (Formiminotransferase-cyclodeaminase) (FTCD) (LCHC1) [Includes: Glutamate formimidoyltransferase (EC 2.1.2.5) (Glutamate formiminotransferase) (Glutamate formyltransferase); Formimidoyltetrahydrofolate cyclodeaminase

Protein 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 fila

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07837	FTCD_N	4 → 179	Formiminotransferase domain, N-terminal subdomain	Domain
PF02971	FTCD	181 → 324	Formiminotransferase domain	Domain
PF04961	FTCD_C	339 → 520	Formiminotransferase-cyclodeaminase	Family

Sequence

MSQLVECVPNFSEGKNQEVIDAISGAITQTPGCVLLDVDAGPSTNRTVYTFVGPPECVVE
GALNAARVASRLIDMSRHQGEHPRMGALDVCPFIPVRGVSVDECVLCAQAFGQRLAEELD
VPVYLYGEAARMDSRRTLPAIRAGEYEALPKKLQQADWAPDFGPSSFVPSWGATATGARK
FLIAFNINLLGTKEQAHRIALNLREQGRGKDQPGRLKKVQGIGWYLDEKNLAQVSTNLLD
FEVTALHTVYEETCREAQELSLPVVGSQLVGLVPLKALLDAAAFYCEKENLFILEEEQRI
RLVVSRLGLDSLCPFSPKERIIEYLVPERGPERGLGSKSLRAFVGEVGARSAAPGGGSVA
AAAAAMGAALGSMVGLMTYGRRQFQSLDTTMRRLIPPFREASAKLTTLVDADAEAFTAYL
EAMRLPKNTPEEKDRRTAALQEGLRRAVSVPLTLAETVASLWPALQELARCGNLACRSDL
QVAAKALEMGVFGAYFNVLINLRDITDEAFKDQIHHRVSSLLQEAKTQAALVLDCLETRQ
E

Sequence length

541

Interactions

View interactions

	KEGG		Reactome
	Histidine metabolism One carbon pool by folate Metabolic pathways		Histidine catabolism

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
FTCD-related disorder	Likely pathogenic; Pathogenic	rs398124234, rs1355632505, rs8133955	RCV003390640 RCV003391466 RCV003403369	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glutamate formiminotransferase deficiency	Likely pathogenic; Pathogenic	rs1310075515, rs398124234, rs149266909, rs776381858, rs2517047371, rs777286639, rs2079131229, rs374724805, rs8133955, rs775788856, rs140217223	RCV001383517 RCV000004234 RCV001199935 RCV005036743 RCV003609520 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Likely pathogenic	rs1355632505	RCV005932778	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BURKITT LYMPHOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASTOCYTOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
African Burkitt`s lymphoma	African Burkitt`s Lymphoma	CTD_human_DG	23143597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASCAT_DG	31120506		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Megaloblastic	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	10029623, 12811847, 15057911, 27414259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Leukemia	Burkitt`s Lymphoma	CTD_human_DG	23143597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	CTD_human_DG	23143597		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	23143597	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	17627933, 33380233, 34743578, 35286894, 37248957, 40179431	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31203308	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	34320944	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glutamate formiminotransferase deficiency	Glutamate Formiminotransferase Deficiency	BEFREE	12815595, 29178637, 30740726		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glutamate formiminotransferase deficiency	Glutamate Formiminotransferase Deficiency	ORPHANET_DG	12815595		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glutamate formiminotransferase deficiency	Glutamate Formiminotransferase Deficiency	CLINVAR_DG	12815595, 25689098, 26633545, 29178637		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glutamate formiminotransferase deficiency	Glutamate Formiminotransferase Deficiency	GENOMICS_ENGLAND_DG	12815595, 29178637		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glutamate formiminotransferase deficiency	Glutamate Formiminotransferase Deficiency	UNIPROT_DG	12815595		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glutamate formiminotransferase deficiency	Glutamate Formiminotransferase Deficiency	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatitis Autoimmune	Autoimmune hepatitis	Pubtator	29995946	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37481543	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Liver carcinoma	Liver carcinoma	BEFREE	17627933, 18571811, 24686083, 31203308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18571811, 31203308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	30893314	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

FTCD (formimidoyltransferase cyclodeaminase)