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

272

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
FTCD-related disorder	Likely pathogenic; Pathogenic	rs398124234, rs1355632505, rs8133955	RCV003390640 RCV003391466 RCV003403369
Glutamate formiminotransferase deficiency	Likely pathogenic; Pathogenic	rs1310075515, rs398124234, rs149266909, rs776381858, rs2517047371, rs777286639, rs2079131229, rs374724805, rs8133955, rs775788856, rs140217223	RCV001383517 RCV000004234 RCV001199935 RCV005036743 RCV003609520 RCV003609617 RCV003609801 RCV000528204 RCV001224942 RCV000778645 RCV000779361
Sarcoma	Likely pathogenic	rs1355632505	RCV005932778

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Uncertain significance	rs201212662	RCV005930795
Intellectual disability	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	rs200283734, rs61729373, rs377359525, rs369754449, rs752941882, rs766010122, rs749659966, rs376001900	RCV001251767 RCV001251768 RCV001251762 RCV001251763 RCV001251761 RCV001251766 RCV001251764 RCV001251765
Malignant tumor of urinary bladder	Uncertain significance	rs201212662	RCV005930796
Myoepithelial tumor	Uncertain significance	rs77740289	RCV002463741
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign	rs201212662, rs372484759	RCV005930797 RCV005937854

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Burkitt Lymphoma	Associate	23143597
Carcinoma Hepatocellular	Associate	17627933, 33380233, 34743578, 35286894, 37248957, 40179431
Carcinoma Hepatocellular	Inhibit	31203308
Cholangiocarcinoma	Associate	34320944
Chromosome 21 monosomy	Associate	35361402
Chromosome 21 ring	Associate	35361402
Drug Related Side Effects and Adverse Reactions	Associate	30893314
Genetic Diseases Inborn	Associate	31759545
Glutamate formiminotransferase deficiency	Associate	29178637
Hepatitis Autoimmune	Associate	29995946
Hypoxia	Associate	37481543
Neoplasms	Associate	30893314
Neoplasms	Inhibit	31203308
Ophthalmoplegia painful	Associate	38233749
Skin Diseases	Associate	30893314

FTCD (formimidoyltransferase cyclodeaminase)