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Aliases for FTCD Gene

Aliases for FTCD Gene

  • Formimidoyltransferase Cyclodeaminase 2 3 5
  • Formiminotransferase Cyclodeaminase 2 3
  • Formiminotransferase-Cyclodeaminase 3 4
  • LCHC1 3 4

External Ids for FTCD Gene

Previous GeneCards Identifiers for FTCD Gene

  • GC21M044062
  • GC21M046412
  • GC21M046380
  • GC21M047556
  • GC21M032937
  • GC21M046162
  • GC21M046169

Summaries for FTCD Gene

Entrez Gene Summary for FTCD Gene

  • 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 formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009]

GeneCards Summary for FTCD Gene

FTCD (Formimidoyltransferase Cyclodeaminase) is a Protein Coding gene. Diseases associated with FTCD include Glutamate Formiminotransferase Deficiency and Autoimmune Hepatitis. Among its related pathways are Histidine metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. GO annotations related to this gene include transferase activity and glutamate formimidoyltransferase activity. An important paralog of this gene is FTCDNL1.

UniProtKB/Swiss-Prot for FTCD Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FTCD Gene

Genomics for FTCD Gene

Regulatory Elements for FTCD Gene

Enhancers for FTCD Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FTCD on UCSC Golden Path with GeneCards custom track

Promoters for FTCD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FTCD on UCSC Golden Path with GeneCards custom track

Genomic Location for FTCD Gene

46,136,151 bp from pter
46,155,856 bp from pter
19,706 bases
Minus strand

Genomic View for FTCD Gene

Genes around FTCD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FTCD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FTCD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FTCD Gene

Proteins for FTCD Gene

  • Protein details for FTCD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B9EGD0
    • Q86V03
    • Q9HCT4
    • Q9HCT5
    • Q9HCT6
    • Q9UHJ2

    Protein attributes for FTCD Gene

    541 amino acids
    Molecular mass:
    58927 Da
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homooctamer, including four polyglutamate binding sites. The subunits are arranged as a tetramer of dimers, and form a planar ring-shaped structure (By similarity).

    Alternative splice isoforms for FTCD Gene


neXtProt entry for FTCD Gene

Proteomics data for FTCD Gene at MOPED

Post-translational modifications for FTCD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FTCD Gene

No data available for DME Specific Peptides for FTCD Gene

Domains & Families for FTCD Gene

Suggested Antigen Peptide Sequences for FTCD Gene

Graphical View of Domain Structure for InterPro Entry



  • In the C-terminal section; belongs to the cyclodeaminase/cyclohydrolase family.
  • In the C-terminal section; belongs to the cyclodeaminase/cyclohydrolase family.
  • In the N-terminal section; belongs to the formiminotransferase family.
genes like me logo Genes that share domains with FTCD: view

No data available for Gene Families for FTCD Gene

Function for FTCD Gene

Molecular function for FTCD Gene

UniProtKB/Swiss-Prot CatalyticActivity:
5-formimidoyltetrahydrofolate + L-glutamate = tetrahydrofolate + N-formimidoyl-L-glutamate.
UniProtKB/Swiss-Prot CatalyticActivity:
5-formyltetrahydrofolate + L-glutamate = tetrahydrofolate + N-formyl-L-glutamate.
UniProtKB/Swiss-Prot CatalyticActivity:
5-formimidoyltetrahydrofolate = 5,10-methenyltetrahydrofolate + NH(3).
UniProtKB/Swiss-Prot Function:
Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool.
UniProtKB/Swiss-Prot Function:
Binds and promotes bundling of vimentin filaments originating from the Golgi.

Gene Ontology (GO) - Molecular Function for FTCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030409 glutamate formimidoyltransferase activity IEA --
genes like me logo Genes that share ontologies with FTCD: view

Phenotypes for FTCD Gene

GenomeRNAi human phenotypes for FTCD:
genes like me logo Genes that share phenotypes with FTCD: view

Human Phenotype Ontology for FTCD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for FTCD Gene

Localization for FTCD Gene

Subcellular locations from UniProtKB/Swiss-Prot for FTCD Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Golgi apparatus. Note=More abundantly located around the mother centriole.

Subcellular locations from

Jensen Localization Image for FTCD Gene COMPARTMENTS Subcellular localization image for FTCD gene
Compartment Confidence
cytosol 5
extracellular 5
golgi apparatus 5
cytoskeleton 4
endoplasmic reticulum 4
nucleus 2
plasma membrane 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for FTCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane ISS --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment ISS --
GO:0030868 smooth endoplasmic reticulum membrane IDA 14697341
genes like me logo Genes that share ontologies with FTCD: view

Pathways & Interactions for FTCD Gene

genes like me logo Genes that share pathways with FTCD: view

UniProtKB/Swiss-Prot O95954-FTCD_HUMAN

  • Pathway: Amino-acid degradation; L-histidine degradation into L-glutamate; L-glutamate from N-formimidoyl-L-glutamate (transferase route): step 1/1.
  • Pathway: One-carbon metabolism; tetrahydrofolate interconversion.

Gene Ontology (GO) - Biological Process for FTCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006548 histidine catabolic process TAS --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0035999 tetrahydrofolate interconversion IEA --
GO:0044237 cellular metabolic process IEA --
genes like me logo Genes that share ontologies with FTCD: view

No data available for SIGNOR curated interactions for FTCD Gene

Drugs & Compounds for FTCD Gene

(9) Drugs for FTCD Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tetrahydrofolic acid Approved Nutra Target, cofactor 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 57
Folic Acid Approved Nutra 4079
N5-Formyl-THF Experimental Pharma Target 0
L-Glutamic Acid Nutra Full agonist, Agonist, Target 0

(7) Additional Compounds for FTCD Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5,10-Methenyltetrahydrofolic acid
  • 5,10-Methenyl-THF
  • 5,10-Methenyltetrahydrofolate
  • Anhydro-leucovorin
  • Anhydro-leucovorin a
  • Anhydroleucovorin
5-Formiminotetrahydrofolic acid
  • 5-Formimidoyltetrahydrofolate
  • 5-Formiminotetrahydrofolate
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
Formiminoglutamic acid
  • Formimino-glu
  • Formimino-L-glutamate
  • Formimino-L-glutamic acid
  • Formiminoglutamate
  • N-(Iminomethyl)-L-glutamic acid
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with FTCD: view

Transcripts for FTCD Gene

Unigene Clusters for FTCD Gene

Formiminotransferase cyclodeaminase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FTCD Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c · 15d ^ 16
SP1: - - - - - -
SP2: - - - - - -
SP3: - - -
SP4: - - - -
SP5: - - - - -
SP6: - - -
SP7: - -
SP8: -

Relevant External Links for FTCD Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FTCD Gene

mRNA expression in normal human tissues for FTCD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FTCD Gene

This gene is overexpressed in Liver (x36.1) and Kidney - Cortex (x9.2).

Protein differential expression in normal tissues from HIPED for FTCD Gene

This gene is overexpressed in Liver (32.9), Liver, secretome (21.9), and Fetal Liver (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FTCD Gene

SOURCE GeneReport for Unigene cluster for FTCD Gene Hs.415846

genes like me logo Genes that share expression patterns with FTCD: view

Protein tissue co-expression partners for FTCD Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for FTCD Gene

Orthologs for FTCD Gene

This gene was present in the common ancestor of chordates.

Orthologs for FTCD Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia FTCD 35
  • 84.47 (n)
  • 84.84 (a)
  • 84 (a)
(Canis familiaris)
Mammalia FTCD 35
  • 84.66 (n)
  • 83.73 (a)
  • 84 (a)
(Mus musculus)
Mammalia Ftcd 35
  • 80.35 (n)
  • 84.47 (a)
Ftcd 16
Ftcd 36
  • 84 (a)
(Pan troglodytes)
Mammalia FTCD 35
  • 99.38 (n)
  • 99.26 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Ftcd 35
  • 80.71 (n)
  • 84.84 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 65 (a)
(Gallus gallus)
Aves FTCD 35
  • 70.49 (n)
  • 70.93 (a)
  • 71 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ftcd 35
  • 65.37 (n)
  • 70.32 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC64458 35
(Danio rerio)
Actinopterygii ftcd 35
  • 64.51 (n)
  • 66.3 (a)
zgc63647 35
ftcd 36
  • 65 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.541 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6912 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
Species with no ortholog for FTCD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FTCD Gene

Gene Tree for FTCD (if available)
Gene Tree for FTCD (if available)

Paralogs for FTCD Gene

Paralogs for FTCD Gene

genes like me logo Genes that share paralogs with FTCD: view

Variants for FTCD Gene

Sequence variations from dbSNP and Humsavar for FTCD Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs28941768 Glutamate formiminotransferase deficiency (FIGLU-URIA) 46,151,945(-) ACAGT(C/T)GCCGG nc-transcript-variant, reference, missense
VAR_015888 Glutamate formiminotransferase deficiency (FIGLU-URIA)
VAR_015889 -
rs2277818 -- 46,155,338(+) GCCCA(C/T)GGGCA intron-variant
rs2277819 -- 46,155,373(+) CGACC(C/T)GGGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FTCD Gene

Variant ID Type Subtype PubMed ID
nsv914079 CNV Loss 21882294
nsv509804 CNV Insertion 20534489
nsv470910 CNV Gain 18288195
dgv4809n71 CNV Loss 21882294
nsv525728 CNV Loss 19592680
dgv4810n71 CNV Loss 21882294
dgv4811n71 CNV Loss 21882294
dgv4812n71 CNV Loss 21882294
nsv470911 CNV Loss 18288195
nsv914116 CNV Loss 21882294
dgv4813n71 CNV Loss 21882294
dgv255n21 CNV Gain 19592680
dgv4814n71 CNV Loss 21882294
dgv4815n71 CNV Loss 21882294
nsv914124 CNV Loss 21882294
dgv4816n71 CNV Loss 21882294
esv2361731 CNV Deletion 18987734
esv23673 CNV Loss 19812545
nsv821035 CNV Duplication 20802225
esv2674011 CNV Deletion 23128226
esv1494368 CNV Insertion 17803354
nsv828916 CNV Loss 20364138
esv2723899 CNV Deletion 23290073
esv2723900 CNV Deletion 23290073
esv2723901 CNV Deletion 23290073
nsv513580 CNV Insertion 21212237
nsv914130 CNV Loss 21882294
nsv914132 CNV Loss 21882294

Variation tolerance for FTCD Gene

Residual Variation Intolerance Score: 95% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.61; 72.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FTCD Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FTCD Gene

Disorders for FTCD Gene

MalaCards: The human disease database

(3) MalaCards diseases for FTCD Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glutamate formiminotransferase deficiency
  • arakawa syndrome 1
autoimmune hepatitis
  • autoimmune chronic active hepatitis
megaloblastic anemia
  • grasbeck-imerslund syndrome
- elite association - COSMIC cancer census association via MalaCards
Search FTCD in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:12815595}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FTCD

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with FTCD: view

No data available for Genatlas for FTCD Gene

Publications for FTCD Gene

  1. Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency. (PMID: 10773664) Solans A. … de la Luna S. (Cytogenet. Cell Genet. 2000) 2 3 4 23 67
  2. Formiminotransferase cyclodeaminase is an organ-specific autoantigen recognized by sera of patients with autoimmune hepatitis. (PMID: 10029623) Lapierre P. … Alvarez F. (Gastroenterology 1999) 2 3 23
  3. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  4. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  5. Characterization of the antigenicity of the formiminotransferase-cyclodeaminase in type 2 autoimmune hepatitis. (PMID: 14697341) Renous R. … Alvarez F. (Exp. Cell Res. 2004) 3 23

Products for FTCD Gene

Sources for FTCD Gene