• Gene id: 10841

Gene Summary

• Gene Symbol: FTCD   Gene   UCSC   Ensembl
• Aliases: LCHC1
• Gene name: formimidoyltransferase cyclodeaminase
• Alternate names: formimidoyltransferase-cyclodeaminase, formiminotransferase-cyclodeaminase,
• Gene location: 21q22.3 (46156481: 46135980)     Exons: 16     NC_000021.9
• Gene summary(Entrez): 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
• OMIM: 606806

Protein Summary

• Protein general information: O95954  
  • Name: Formimidoyltransferase cyclodeaminase (Formiminotransferase cyclodeaminase) (FTCD) (LCHC1) [Includes: Glutamate formimidoyltransferase (EC 2.1.2.5) (Glutamate formiminotransferase) (Glutamate formyltransferase); Formimidoyltetrahydrofolate cyclodeaminase
  • Length: 541  
  • Mass: 58927
• Sequence:

  MSQLVECVPNFSEGKNQEVIDAISGAITQTPGCVLLDVDAGPSTNRTVYTFVGPPECVVEGALNAARVASRLIDM
  SRHQGEHPRMGALDVCPFIPVRGVSVDECVLCAQAFGQRLAEELDVPVYLYGEAARMDSRRTLPAIRAGEYEALP
  KKLQQADWAPDFGPSSFVPSWGATATGARKFLIAFNINLLGTKEQAHRIALNLREQGRGKDQPGRLKKVQGIGWY
  LDEKNLAQVSTNLLDFEVTALHTVYEETCREAQELSLPVVGSQLVGLVPLKALLDAAAFYCEKENLFILEEEQRI
  RLVVSRLGLDSLCPFSPKERIIEYLVPERGPERGLGSKSLRAFVGEVGARSAAPGGGSVAAAAAAMGAALGSMVG
  LMTYGRRQFQSLDTTMRRLIPPFREASAKLTTLVDADAEAFTAYLEAMRLPKNTPEEKDRRTAALQEGLRRAVSV
  PLTLAETVASLWPALQELARCGNLACRSDLQVAAKALEMGVFGAYFNVLINLRDITDEAFKDQIHHRVSSLLQEA
  KTQAALVLDCLETRQE

• Structural information:
  • Interpro: IPR007044  IPR013802  IPR037070  IPR004227  IPR012886   IPR037064  IPR022384  IPR036178  
  • STRING: ENSP00000291670
• Other Databases: GeneCards:  FTCD  Malacards:  FTCD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016740	transferase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005542	folic acid binding	IEA	molecular function
GO:0044237	cellular metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016829	lyase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006547	histidine metabolic process	IEA	biological process
GO:0005542	folic acid binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0006760	folic acid-containing compound metabolic process	TAS	biological process
GO:0030409	glutamate formimidoyltransferase activity	IEA	molecular function
GO:0030412	formimidoyltetrahydrofolate cyclodeaminase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006548	histidine catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0008017	microtubule binding	IEA	molecular function
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0030412	formimidoyltetrahydrofolate cyclodeaminase activity	IEA	molecular function
GO:0030407	formimidoyltransferase activity	IEA	molecular function
GO:0030407	formimidoyltransferase activity	ISS	molecular function
GO:0030412	formimidoyltetrahydrofolate cyclodeaminase activity	ISS	molecular function
GO:0030868	smooth endoplasmic reticulum membrane	IDA	cellular component
GO:0000139	Golgi membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0008017	microtubule binding	IDA	molecular function
GO:0008017	microtubule binding	ISS	molecular function
GO:0005794	Golgi apparatus	ISS	cellular component
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	ISS	cellular component
GO:0000139	Golgi membrane	ISS	cellular component
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0035999	tetrahydrofolate interconversion	IEA	biological process
GO:0019557	histidine catabolic process to glutamate and formate	IEA	biological process
GO:0019556	histidine catabolic process to glutamate and formamide	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00340	Histidine metabolism
hsa00670	One carbon pool by folate

Diseases

Associated diseases	References
Formiminotransferase deficiency	KEGG:H01262
Formiminotransferase deficiency	KEGG:H01262
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray