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O95954

- FTCD_HUMAN

UniProt

O95954 - FTCD_HUMAN

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Protein

Formimidoyltransferase-cyclodeaminase

Gene

FTCD

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei82 – 821For formimidoyltransferase activityBy similarity
Active sitei412 – 4121For cyclodeaminase activityBy similarity

GO - Molecular functioni

  1. folic acid binding Source: UniProtKB-KW
  2. formimidoyltetrahydrofolate cyclodeaminase activity Source: Reactome
  3. glutamate formimidoyltransferase activity Source: UniProtKB-EC

GO - Biological processi

  1. cellular nitrogen compound metabolic process Source: Reactome
  2. cytoskeleton organization Source: Ensembl
  3. folic acid-containing compound metabolic process Source: ProtInc
  4. histidine catabolic process Source: Reactome
  5. histidine catabolic process to glutamate and formamide Source: UniProtKB-UniPathway
  6. histidine catabolic process to glutamate and formate Source: UniProtKB-UniPathway
  7. small molecule metabolic process Source: Reactome
  8. tetrahydrofolate interconversion Source: UniProtKB-UniPathway
Complete GO annotation...

Keywords - Molecular functioni

Lyase, Transferase

Keywords - Biological processi

Histidine metabolism

Keywords - Ligandi

Folate-binding, Pyridoxal phosphate

Enzyme and pathway databases

ReactomeiREACT_1249. 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
ProteomesiUP000005640: Chromosome 21

Organism-specific databases

HGNCiHGNC:3974. FTCD.

Subcellular locationi

Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole 1 Publication. Golgi apparatus By similarity
Note: More abundantly located around the mother centriole.

GO - Cellular componenti

  1. cytoplasm Source: ProtInc
  2. cytoskeleton Source: UniProtKB-KW
  3. cytosol Source: Reactome
  4. extracellular vesicular exosome Source: UniProt
  5. Golgi apparatus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Golgi apparatus

Pathology & Biotechi

Involvement in diseasei

Glutamate formiminotransferase deficiency (FIGLU-URIA) [MIM:229100]: Autosomal 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti135 – 1351R → C in FIGLU-URIA; mild phenotype; 61% wild-type activity. 1 Publication
Corresponds to variant rs28941768 [ dbSNP | Ensembl ].
VAR_015887
Natural varianti299 – 2991R → P in FIGLU-URIA; mild phenotype; 57% wild-type activity. 1 Publication
VAR_015888

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi229100. phenotype.
Orphaneti51208. Formiminoglutamic aciduria.
PharmGKBiPA28391.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 541541Formimidoyltransferase-cyclodeaminasePRO_0000087359Add
BLAST

Proteomic databases

MaxQBiO95954.
PaxDbiO95954.
PRIDEiO95954.

PTM databases

PhosphoSiteiO95954.

Expressioni

Gene expression databases

BgeeiO95954.
CleanExiHS_FTCD.
ExpressionAtlasiO95954. baseline and differential.
GenevestigatoriO95954.

Organism-specific databases

HPAiCAB016409.
HPA020073.
HPA030929.

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

Protein-protein interaction databases

BioGridi116053. 2 interactions.
STRINGi9606.ENSP00000291670.

Structurei

3D structure databases

ProteinModelPortaliO95954.
SMRiO95954. Positions 2-541.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 181181Formiminotransferase N-subdomainBy similarityAdd
BLAST
Regioni182 – 326145Formiminotransferase C-subdomainBy similarityAdd
BLAST
Regioni327 – 3348LinkerBy similarity
Regioni335 – 541207Cyclodeaminase/cyclohydrolaseBy similarityAdd
BLAST

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

eggNOGiCOG3404.
GeneTreeiENSGT00390000005581.
HOVERGENiHBG000168.
InParanoidiO95954.
KOiK13990.
OMAiRIIEYMV.
OrthoDBiEOG7N63MS.
PhylomeDBiO95954.
TreeFamiTF333892.

Family and domain databases

Gene3Di3.30.70.670. 1 hit.
3.30.990.10. 1 hit.
InterProiIPR007044. Cyclodeamin/CycHdrlase.
IPR013802. Formiminotransferase_C.
IPR004227. Formiminotransferase_cat.
IPR012886. Formiminotransferase_N.
IPR022384. FormiminoTrfase_N/C_subdom.
[Graphical view]
PfamiPF02971. FTCD. 1 hit.
PF04961. FTCD_C. 1 hit.
PF07837. FTCD_N. 1 hit.
[Graphical view]
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti135 – 1351R → C in FIGLU-URIA; mild phenotype; 61% wild-type activity. 1 Publication
Corresponds to variant rs28941768 [ dbSNP | Ensembl ].
VAR_015887
Natural varianti299 – 2991R → P in FIGLU-URIA; mild phenotype; 57% wild-type activity. 1 Publication
VAR_015888
Natural varianti438 – 4381A → E.1 Publication
VAR_015889

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei123 – 15836VYLYG…QQADW → GLTAGLSCSLPVRRGSQDGQ SPDPAGHPGRGVRGPP in isoform E. 1 PublicationVSP_004257Add
BLAST
Alternative sequencei159 – 541383Missing in isoform E. 1 PublicationVSP_004258Add
BLAST
Alternative sequencei421 – 541121EAMRL…ETRQE → AHGGPTGGSEAGSLCAADAG GDGGLAVAGAAGTGPVWEPG LPVRPPGGGQSPGDGRVWRI FQRAHQPEGHHRRGI in isoform D. 1 PublicationVSP_004259Add
BLAST
Alternative sequencei514 – 54128IHHRV…ETRQE → PPAGSQDPGCTGAGLLGDPA GVTVREASPGSVAPPSPIPR GQSCDLETPGTAGPSTLEG in isoform C. 1 PublicationVSP_004260Add
BLAST

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]
RefSeqiNP_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]
uc002zig.3. human. [O95954-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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 .
CCDSi CCDS13731.1. [O95954-1 ]
RefSeqi NP_006648.1. NM_006657.2. [O95954-1 ]
NP_996848.1. NM_206965.1. [O95954-1 ]
UniGenei Hs.415846.

3D structure databases

ProteinModelPortali O95954.
SMRi O95954. Positions 2-541.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116053. 2 interactions.
STRINGi 9606.ENSP00000291670.

Chemistry

DrugBanki DB00116. Tetrahydrofolic acid.

PTM databases

PhosphoSitei O95954.

Proteomic databases

MaxQBi O95954.
PaxDbi O95954.
PRIDEi O95954.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000291670 ; ENSP00000291670 ; ENSG00000160282 . [O95954-1 ]
ENST00000397746 ; ENSP00000380854 ; ENSG00000160282 . [O95954-1 ]
ENST00000397748 ; ENSP00000380856 ; ENSG00000160282 . [O95954-2 ]
GeneIDi 10841.
KEGGi hsa:10841.
UCSCi uc002zif.3. human. [O95954-1 ]
uc002zig.3. human. [O95954-2 ]

Organism-specific databases

CTDi 10841.
GeneCardsi GC21M047556.
HGNCi HGNC:3974. FTCD.
HPAi CAB016409.
HPA020073.
HPA030929.
MIMi 229100. phenotype.
606806. gene.
neXtProti NX_O95954.
Orphaneti 51208. Formiminoglutamic aciduria.
PharmGKBi PA28391.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG3404.
GeneTreei ENSGT00390000005581.
HOVERGENi HBG000168.
InParanoidi O95954.
KOi K13990.
OMAi RIIEYMV.
OrthoDBi EOG7N63MS.
PhylomeDBi O95954.
TreeFami TF333892.

Enzyme and pathway databases

UniPathwayi UPA00193 .
UPA00379 ; UER00555 .
Reactomei REACT_1249. Histidine catabolism.

Miscellaneous databases

ChiTaRSi FTCD. human.
GenomeRNAii 10841.
NextBioi 41160.
PROi O95954.
SOURCEi Search...

Gene expression databases

Bgeei O95954.
CleanExi HS_FTCD.
ExpressionAtlasi O95954. baseline and differential.
Genevestigatori O95954.

Family and domain databases

Gene3Di 3.30.70.670. 1 hit.
3.30.990.10. 1 hit.
InterProi IPR007044. Cyclodeamin/CycHdrlase.
IPR013802. Formiminotransferase_C.
IPR004227. Formiminotransferase_cat.
IPR012886. Formiminotransferase_N.
IPR022384. FormiminoTrfase_N/C_subdom.
[Graphical view ]
Pfami PF02971. FTCD. 1 hit.
PF04961. FTCD_C. 1 hit.
PF07837. FTCD_N. 1 hit.
[Graphical view ]
SUPFAMi SSF101262. SSF101262. 1 hit.
SSF55116. SSF55116. 2 hits.
TIGRFAMsi TIGR02024. FtcD. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency."
    Solans A., Estivill X., de la Luna S.
    Cytogenet. Cell Genet. 88:43-49(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A; C; D AND E).
    Tissue: Kidney.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
    Tissue: Liver.
  3. "Formiminotransferase cyclodeaminase is an organ-specific autoantigen recognized by sera of patients with autoimmune hepatitis."
    Lapierre P., Hajoui O., Homberg J.-C., Alvarez F.
    Gastroenterology 116:643-649(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 396-541.
  4. Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
  5. "Localization of Golgi 58K protein (formiminotransferase cyclodeaminase) to the centrosome."
    Hagiwara H., Tajika Y., Matsuzaki T., Suzuki T., Aoki T., Takata K.
    Histochem. Cell Biol. 126:251-259(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, CENTRIOLE ASSOCIATION.
  6. Cited for: VARIANTS FIGLU-URIA CYS-135 AND PRO-299, VARIANT GLU-438.

Entry informationi

Entry nameiFTCD_HUMAN
AccessioniPrimary (citable) accession number: O95954
Secondary accession number(s): B9EGD0
, Q86V03, Q9HCT4, Q9HCT5, Q9HCT6, Q9UHJ2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 30, 2000
Last modified: November 26, 2014
This is version 136 of the entry and version 2 of the sequence. [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, Multifunctional enzyme, 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

External Data

Dasty 3