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Protein

Formimidoyltransferase-cyclodeaminase

Gene

FTCD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 filaments originating from the Golgi.By similarity

Catalytic activityi

5-formimidoyltetrahydrofolate + L-glutamate = tetrahydrofolate + N-formimidoyl-L-glutamate.
5-formyltetrahydrofolate + L-glutamate = tetrahydrofolate + N-formyl-L-glutamate.
5-formimidoyltetrahydrofolate = 5,10-methenyltetrahydrofolate + NH3.

Cofactori

Pathwayi: L-histidine degradation into L-glutamate

This protein is involved in step 1 of the subpathway that synthesizes L-glutamate from N-formimidoyl-L-glutamate (transferase route).
Proteins known to be involved in this subpathway in this organism are:
  1. Formimidoyltransferase-cyclodeaminase (FTCD)
This subpathway is part of the pathway L-histidine degradation into L-glutamate, which is itself part of Amino-acid degradation.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes L-glutamate from N-formimidoyl-L-glutamate (transferase route), the pathway L-histidine degradation into L-glutamate and in Amino-acid degradation.

Pathwayi: tetrahydrofolate interconversion

This protein is involved in the pathway tetrahydrofolate interconversion, which is part of One-carbon metabolism.
View all proteins of this organism that are known to be involved in the pathway tetrahydrofolate interconversion and in One-carbon metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei82For formimidoyltransferase activityBy similarity1
Active sitei412For cyclodeaminase activityBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionLyase, Multifunctional enzyme, Transferase
Biological processHistidine metabolism
LigandFolate-binding, Pyridoxal phosphate

Enzyme and pathway databases

BRENDAi2.1.2.5 2681
4.3.1.4 2681
ReactomeiR-HSA-70921 Histidine catabolism
UniPathwayiUPA00193
UPA00379; UER00555

Names & Taxonomyi

Protein namesi
Recommended name:
Formimidoyltransferase-cyclodeaminase
Alternative name(s):
Formiminotransferase-cyclodeaminase
Short name:
FTCD
LCHC1
Including the following 2 domains:
Glutamate formimidoyltransferase (EC:2.1.2.5)
Alternative name(s):
Glutamate formiminotransferase
Glutamate formyltransferase
Formimidoyltetrahydrofolate cyclodeaminase (EC:4.3.1.4)
Alternative name(s):
Formiminotetrahydrofolate cyclodeaminase
Gene namesi
Name:FTCD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

EuPathDBiHostDB:ENSG00000160282.13
HGNCiHGNC:3974 FTCD
MIMi606806 gene
neXtProtiNX_O95954

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Golgi apparatus

Pathology & Biotechi

Involvement in diseasei

Glutamate formiminotransferase deficiency (FIGLU-URIA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive disorder. Features of a severe phenotype, include elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic anemia, and mental retardation. Features of a mild phenotype include high urinary excretion of FIGLU in the absence of histidine administration, mild developmental delay, and no hematological abnormalities.
See also OMIM:229100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015887135R → C in FIGLU-URIA; mild phenotype; 61% wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs28941768EnsemblClinVar.1
Natural variantiVAR_015888299R → P in FIGLU-URIA; mild phenotype; 57% wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs119469015EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi10841
MalaCardsiFTCD
MIMi229100 phenotype
OpenTargetsiENSG00000160282
Orphaneti51208 Formiminoglutamic aciduria
PharmGKBiPA28391

Chemistry databases

DrugBankiDB03256 (6R)-Folinic acid
DB00142 L-Glutamic Acid
DB00114 Pyridoxal Phosphate
DB00116 Tetrahydrofolic acid

Polymorphism and mutation databases

BioMutaiFTCD

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000873591 – 541Formimidoyltransferase-cyclodeaminaseAdd BLAST541

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei316PhosphoserineCombined sources1
Modified residuei386PhosphoserineCombined sources1
Modified residuei520PhosphoserineBy similarity1
Isoform C (identifier: O95954-2)
Modified residuei549PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO95954
MaxQBiO95954
PaxDbiO95954
PeptideAtlasiO95954
PRIDEiO95954
ProteomicsDBi51142
51143 [O95954-2]
51144 [O95954-3]
51145 [O95954-4]

PTM databases

iPTMnetiO95954
PhosphoSitePlusiO95954

Expressioni

Gene expression databases

BgeeiENSG00000160282
CleanExiHS_FTCD
ExpressionAtlasiO95954 baseline and differential
GenevisibleiO95954 HS

Organism-specific databases

HPAiHPA020073
HPA030928
HPA030929
HPA036114

Interactioni

Subunit structurei

Homooctamer, including four polyglutamate binding sites. The subunits are arranged as a tetramer of dimers, and form a planar ring-shaped structure (By similarity).By similarity

Binary interactionsi

Show more details

GO - Molecular functioni

  • microtubule binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi116053, 4 interactors
IntActiO95954, 5 interactors
STRINGi9606.ENSP00000291670

Structurei

3D structure databases

ProteinModelPortaliO95954
SMRiO95954
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 181Formiminotransferase N-subdomainBy similarityAdd BLAST181
Regioni182 – 326Formiminotransferase C-subdomainBy similarityAdd BLAST145
Regioni327 – 334LinkerBy similarity8
Regioni335 – 541Cyclodeaminase/cyclohydrolaseBy similarityAdd BLAST207

Sequence similaritiesi

In the C-terminal section; belongs to the cyclodeaminase/cyclohydrolase family.Curated
In the N-terminal section; belongs to the formiminotransferase family.Curated

Phylogenomic databases

eggNOGiENOG410IERX Eukaryota
COG3404 LUCA
COG3643 LUCA
GeneTreeiENSGT00390000005581
HOVERGENiHBG000168
InParanoidiO95954
KOiK13990
OMAiYGKRQFE
OrthoDBiEOG091G0950
PhylomeDBiO95954
TreeFamiTF333892

Family and domain databases

Gene3Di1.20.120.680, 1 hit
3.30.70.670, 1 hit
3.30.990.10, 1 hit
InterProiView protein in InterPro
IPR007044 Cyclodeamin/CycHdrlase
IPR013802 Formiminotransferase_C
IPR037070 Formiminotransferase_C_sf
IPR004227 Formiminotransferase_cat
IPR012886 Formiminotransferase_N
IPR037064 Formiminotransferase_N_sf
IPR022384 FormiminoTrfase_cat_dom_sf
IPR036178 Formintransfe-cycloase-like_sf
PfamiView protein in Pfam
PF02971 FTCD, 1 hit
PF04961 FTCD_C, 1 hit
PF07837 FTCD_N, 1 hit
SMARTiView protein in SMART
SM01221 FTCD, 1 hit
SM01222 FTCD_N, 1 hit
SUPFAMiSSF101262 SSF101262, 1 hit
SSF55116 SSF55116, 2 hits
TIGRFAMsiTIGR02024 FtcD, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform A (identifier: O95954-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSQLVECVPN FSEGKNQEVI DAISGAITQT PGCVLLDVDA GPSTNRTVYT
60 70 80 90 100
FVGPPECVVE GALNAARVAS RLIDMSRHQG EHPRMGALDV CPFIPVRGVS
110 120 130 140 150
VDECVLCAQA FGQRLAEELD VPVYLYGEAA RMDSRRTLPA IRAGEYEALP
160 170 180 190 200
KKLQQADWAP DFGPSSFVPS WGATATGARK FLIAFNINLL GTKEQAHRIA
210 220 230 240 250
LNLREQGRGK DQPGRLKKVQ GIGWYLDEKN LAQVSTNLLD FEVTALHTVY
260 270 280 290 300
EETCREAQEL SLPVVGSQLV GLVPLKALLD AAAFYCEKEN LFILEEEQRI
310 320 330 340 350
RLVVSRLGLD SLCPFSPKER IIEYLVPERG PERGLGSKSL RAFVGEVGAR
360 370 380 390 400
SAAPGGGSVA AAAAAMGAAL GSMVGLMTYG RRQFQSLDTT MRRLIPPFRE
410 420 430 440 450
ASAKLTTLVD ADAEAFTAYL EAMRLPKNTP EEKDRRTAAL QEGLRRAVSV
460 470 480 490 500
PLTLAETVAS LWPALQELAR CGNLACRSDL QVAAKALEMG VFGAYFNVLI
510 520 530 540
NLRDITDEAF KDQIHHRVSS LLQEAKTQAA LVLDCLETRQ E
Length:541
Mass (Da):58,927
Last modified:May 30, 2000 - v2
Checksum:iC6CFEBFC6DC2ED68
GO
Isoform C (identifier: O95954-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     514-541: IHHRVSSLLQEAKTQAALVLDCLETRQE → PPAGSQDPGC...GTAGPSTLEG

Show »
Length:572
Mass (Da):61,276
Checksum:i487A7518726BF2DF
GO
Isoform D (identifier: O95954-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     421-541: EAMRLPKNTP...VLDCLETRQE → AHGGPTGGSE...QPEGHHRRGI

Show »
Length:495
Mass (Da):52,765
Checksum:i2A1ECD587F8E8882
GO
Isoform E (identifier: O95954-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     123-158: VYLYGEAARMDSRRTLPAIRAGEYEALPKKLQQADW → GLTAGLSCSLPVRRGSQDGQSPDPAGHPGRGVRGPP
     159-541: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:158
Mass (Da):16,503
Checksum:iE03CA7F616A1023A
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015887135R → C in FIGLU-URIA; mild phenotype; 61% wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs28941768EnsemblClinVar.1
Natural variantiVAR_015888299R → P in FIGLU-URIA; mild phenotype; 57% wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs119469015EnsemblClinVar.1
Natural variantiVAR_015889438A → E1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_004257123 – 158VYLYG…QQADW → GLTAGLSCSLPVRRGSQDGQ SPDPAGHPGRGVRGPP in isoform E. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_004258159 – 541Missing in isoform E. 1 PublicationAdd BLAST383
Alternative sequenceiVSP_004259421 – 541EAMRL…ETRQE → AHGGPTGGSEAGSLCAADAG GDGGLAVAGAAGTGPVWEPG LPVRPPGGGQSPGDGRVWRI FQRAHQPEGHHRRGI in isoform D. 1 PublicationAdd BLAST121
Alternative sequenceiVSP_004260514 – 541IHHRV…ETRQE → PPAGSQDPGCTGAGLLGDPA GVTVREASPGSVAPPSPIPR GQSCDLETPGTAGPSTLEG in isoform C. 1 PublicationAdd BLAST28

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF169017 mRNA Translation: AAF15558.1
AF289021 mRNA Translation: AAG01852.1
AF289022 mRNA Translation: AAG01853.1
AF289023 mRNA Translation: AAG01854.1
AF289024 mRNA Translation: AAG01855.1
BC052248 mRNA Translation: AAH52248.2
BC136383 mRNA Translation: AAI36384.1
BC136395 mRNA Translation: AAI36396.1
U91541 mRNA Translation: AAD15627.1
CCDSiCCDS13731.1 [O95954-1]
CCDS82684.1 [O95954-2]
RefSeqiNP_001307341.1, NM_001320412.1 [O95954-2]
NP_006648.1, NM_006657.2 [O95954-1]
NP_996848.1, NM_206965.1 [O95954-1]
UniGeneiHs.415846

Genome annotation databases

EnsembliENST00000291670; ENSP00000291670; ENSG00000160282 [O95954-1]
ENST00000397746; ENSP00000380854; ENSG00000160282 [O95954-1]
ENST00000397748; ENSP00000380856; ENSG00000160282 [O95954-2]
GeneIDi10841
KEGGihsa:10841
UCSCiuc002zif.3 human [O95954-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFTCD_HUMAN
AccessioniPrimary (citable) accession number: O95954
Secondary accession number(s): B9EGD0
, Q86V03, Q9HCT4, Q9HCT5, Q9HCT6, Q9UHJ2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 30, 2000
Last modified: July 18, 2018
This is version 168 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

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