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Aliases for FTCD Gene

Aliases for FTCD Gene

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

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 One carbon pool by folate. 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21G046021 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +133.1 133069 2.8 TBP ATF1 ZNF766 FOS KDM4B ZNF362 NFYA SMAD5 NFYC USF2 FTCD-AS1 FTCD COL6A1 LOC105372842
GH21G046120 0.9 ENCODE dbSUPER 19.6 +34.1 34070 2.6 ZBTB10 KLF17 USF2 BCL11B ZFHX2 POLR2A PRDM10 ZNF600 FOS EGR2 FTCD FTCD-AS1 COL6A2 GC21P046125
GH21G046115 1 ENCODE dbSUPER 17.3 +38.1 38122 4.5 KLF1 ZSCAN4 KLF17 ZIC2 ZFHX2 CTBP1 ZNF207 RCOR1 KLF8 EGR2 FTCD FTCD-AS1 COL6A2 SPATC1L GC21P046125
GH21G046143 1.9 FANTOM5 Ensembl ENCODE dbSUPER 7.7 +11.8 11793 1.9 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 SIN3A FEZF1 ZNF2 ZNF143 ZNF207 ENSG00000228137 MCM3AP MCM3AP-AS1 DSTNP1 FTCD SPATC1L YBEY S100B GC21M046180 FTCD-AS1
GH21G046027 1.1 Ensembl ENCODE dbSUPER 10.9 +127.3 127295 2.3 NFIC ZBTB21 NFIB ATF2 NR2F2 TRIM28 FTCD FTCD-AS1 LOC105372842 COL6A1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FTCD on UCSC Golden Path with GeneCards custom track

Genomic Location for FTCD Gene

Chromosome:
21
Start:
46,136,151 bp from pter
End:
46,155,856 bp from pter
Size:
19,706 bases
Orientation:
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:
    O95954-FTCD_HUMAN
    Recommended name:
    Formimidoyltransferase-cyclodeaminase
    Protein Accession:
    O95954
    Secondary Accessions:
    • B9EGD0
    • Q86V03
    • Q9HCT4
    • Q9HCT5
    • Q9HCT6
    • Q9UHJ2

    Protein attributes for FTCD Gene

    Size:
    541 amino acids
    Molecular mass:
    58927 Da
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for FTCD Gene

Post-translational modifications for FTCD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

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

O95954

UniProtKB/Swiss-Prot:

FTCD_HUMAN :
  • In the C-terminal section; belongs to the cyclodeaminase/cyclohydrolase family.
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:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0005542 folic acid binding IEA --
GO:0008017 microtubule binding ISS --
GO:0016740 transferase 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

CRISPR Products

Inhibitory RNA 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FTCD gene
Compartment Confidence
extracellular 5
cytosol 5
golgi apparatus 5
cytoskeleton 4
endoplasmic reticulum 4
plasma membrane 2
nucleus 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:0005737 cytoplasm TAS 10029623
GO:0005783 endoplasmic reticulum ISS --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment ISS --
GO:0005794 Golgi apparatus IEA,ISS --
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:0006547 histidine metabolic process IEA --
GO:0006548 histidine catabolic process TAS --
GO:0006760 folic acid-containing compound metabolic process TAS 10029623
GO:0007010 cytoskeleton organization IEA --
GO:0008152 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
leucovorin Approved Nutra 3235,1128
Famotidine Approved Pharma Histamine H2-receptor antagonist 61
Folic Acid Approved, Vet_approved Nutra 4392
(6R)-Folinic acid Experimental Pharma 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
7444-29-3
5-Formiminotetrahydrofolic acid
  • 5-Formimidoyltetrahydrofolate
  • 5-Formiminotetrahydrofolate
2311-81-1
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7
Formiminoglutamic acid
  • Formimino-glu
  • Formimino-L-glutamate
  • Formimino-L-glutamic acid
  • Formiminoglutamate
  • N-(Iminomethyl)-L-glutamic acid
816-90-0
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:

CRISPR Products

Inhibitory RNA Products

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
FTCD
ECgene alternative splicing isoforms for
FTCD

Expression for FTCD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for FTCD Gene



Protein tissue co-expression partners for FTCD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FTCD Gene:

FTCD

SOURCE GeneReport for Unigene cluster for FTCD Gene:

Hs.415846

Evidence on tissue expression from TISSUES for FTCD Gene

  • Liver(4.7)
  • Kidney(4.5)
  • Blood(2)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FTCD Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • nervous
  • urinary
Organs:
Head and neck:
  • brain
  • head
Abdomen:
  • kidney
General:
  • blood
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with FTCD: view

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
chimpanzee
(Pan troglodytes)
Mammalia FTCD 34 35
  • 99.38 (n)
dog
(Canis familiaris)
Mammalia FTCD 34 35
  • 84.66 (n)
cow
(Bos Taurus)
Mammalia FTCD 35 34
  • 84.47 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ftcd 34
  • 80.71 (n)
mouse
(Mus musculus)
Mammalia Ftcd 16 35 34
  • 80.35 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 65 (a)
OneToMany
chicken
(Gallus gallus)
Aves FTCD 34 35
  • 70.49 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 70 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ftcd 34
  • 65.37 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC64458 34
zebrafish
(Danio rerio)
Actinopterygii ftcd 34 35
  • 64.51 (n)
zgc63647 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.541 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6912 34
Species where no ortholog for FTCD was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for FTCD (if available)
TreeFam:
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
rs119469015 Pathogenic, Glutamate formiminotransferase deficiency (FIGLU-URIA) [MIM:229100] 46,150,129(-) GCAGC(A/C/G)GATCA nc-transcript-variant, reference, missense
rs28941768 Pathogenic, Glutamate formiminotransferase deficiency (FIGLU-URIA) [MIM:229100] 46,151,945(-) ACAGT(C/T)GCCGG nc-transcript-variant, reference, missense
rs149266909 Pathogenic 46,137,006(+) TCTCC(A/T)AGCAG nc-transcript-variant, downstream-variant-500B, reference, synonymous-codon, stop-gained
rs398124234 Pathogenic 46,145,925(-) AGCGC(-/G)GGGCC nc-transcript-variant, reference, frameshift-variant
rs777099958 Pathogenic 46,138,584(+) CGTCT(-/C)CCGCC nc-transcript-variant, reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
dgv255n21 CNV gain 19592680
esv1494368 CNV insertion 17803354
esv2361731 CNV deletion 18987734
esv23673 CNV loss 19812545
esv2674011 CNV deletion 23128226
esv2723899 CNV deletion 23290073
esv2723900 CNV deletion 23290073
esv2723901 CNV deletion 23290073
esv3647162 CNV gain 21293372
nsv1060978 CNV gain 25217958
nsv1061087 CNV loss 25217958
nsv1072192 CNV deletion 25765185
nsv1073140 CNV deletion 25765185
nsv1112809 CNV deletion 24896259
nsv1121594 CNV deletion 24896259
nsv1132912 CNV insertion 24896259
nsv1149865 CNV deletion 26484159
nsv470910 CNV gain 18288195
nsv470911 CNV loss 18288195
nsv509804 CNV insertion 20534489
nsv513580 CNV insertion 21212237
nsv525728 CNV loss 19592680
nsv587952 CNV loss 21841781
nsv587953 CNV loss 21841781
nsv821035 CNV duplication 20802225
nsv828916 CNV loss 20364138
nsv953658 CNV deletion 24416366

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)
FTCD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FTCD

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

Disorders for FTCD Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
glutamate formiminotransferase deficiency
  • formiminotransferase deficiency
autoimmune hepatitis
  • autoimmune chronic active hepatitis
developmental coordination disorder
  • motor skills disorders
amelogenesis imperfecta, type 1e
  • amelogenesis imperfecta type 1e
amelogenesis imperfecta, type ib
  • amelogenesis imperfecta type 1b
- elite association - COSMIC cancer census association via MalaCards
Search FTCD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FTCD_HUMAN
  • 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)
FTCD
Human Genome Epidemiology (HuGE) Navigator
FTCD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FTCD
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 22 64
  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 4 22 64
  3. The molecular basis of glutamate formiminotransferase deficiency. (PMID: 12815595) Hilton J.F. … Rosenblatt D.S. (Hum. Mutat. 2003) 3 4 22 64
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A. … Murray J.C. (PLoS ONE 2010) 3 46 64

Products for FTCD Gene

Sources for FTCD Gene

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