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O95954

- FTCD_HUMAN

UniProt

O95954 - FTCD_HUMAN

Protein

Formimidoyltransferase-cyclodeaminase

Gene

FTCD

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 2 (30 May 2000)
      Previous versions | rss
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    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

    Pyridoxal phosphate.

    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

    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. centriole Source: UniProtKB-SubCell
    2. cytoplasm Source: ProtInc
    3. cytosol Source: Reactome
    4. extracellular vesicular exosome Source: UniProt
    5. Golgi apparatus Source: UniProtKB-SubCell

    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

    ArrayExpressiO95954.
    BgeeiO95954.
    CleanExiHS_FTCD.
    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.
    HOVERGENiHBG000168.
    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

    MSQLVECVPN FSEGKNQEVI DAISGAITQT PGCVLLDVDA GPSTNRTVYT    50
    FVGPPECVVE GALNAARVAS RLIDMSRHQG EHPRMGALDV CPFIPVRGVS 100
    VDECVLCAQA FGQRLAEELD VPVYLYGEAA RMDSRRTLPA IRAGEYEALP 150
    KKLQQADWAP DFGPSSFVPS WGATATGARK FLIAFNINLL GTKEQAHRIA 200
    LNLREQGRGK DQPGRLKKVQ GIGWYLDEKN LAQVSTNLLD FEVTALHTVY 250
    EETCREAQEL SLPVVGSQLV GLVPLKALLD AAAFYCEKEN LFILEEEQRI 300
    RLVVSRLGLD SLCPFSPKER IIEYLVPERG PERGLGSKSL RAFVGEVGAR 350
    SAAPGGGSVA AAAAAMGAAL GSMVGLMTYG RRQFQSLDTT MRRLIPPFRE 400
    ASAKLTTLVD ADAEAFTAYL EAMRLPKNTP EEKDRRTAAL QEGLRRAVSV 450
    PLTLAETVAS LWPALQELAR CGNLACRSDL QVAAKALEMG VFGAYFNVLI 500
    NLRDITDEAF KDQIHHRVSS LLQEAKTQAA LVLDCLETRQ E 541
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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 DB00142. L-Glutamic Acid.
    DB00114. Pyridoxal Phosphate.
    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.
    HOVERGENi HBG000168.
    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

    ArrayExpressi O95954.
    Bgeei O95954.
    CleanExi HS_FTCD.
    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

    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: October 1, 2014
    This is version 134 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