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Aliases for FTCD Gene

Aliases for FTCD Gene

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

External Ids for FTCD Gene

Previous GeneCards Identifiers for FTCD Gene

  • GC21M044062
  • GC21M046412
  • GC21M046380
  • GC21M047556
  • GC21M032937

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 Metabolism and Metabolism. GO annotations related to this gene include folic acid binding 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

Genomic Location for FTCD Gene

Start:
46,136,151 bp from pter
End:
46,155,643 bp from pter
Size:
19,493 bases
Orientation:
Minus strand

Genomic View for FTCD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

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 for FTCD Gene

Suggested Antigen Peptide Sequences for FTCD Gene

Graphical View of Domain Structure for InterPro Entry

O95954

UniProtKB/Swiss-Prot:

FTCD_HUMAN :
  • O95954
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 --
GO:0005515 protein binding IPI 25416956
GO:0005542 folic acid binding IEA --
GO:0016740 transferase activity --
GO:0030409 glutamate formimidoyltransferase activity IEA --
genes like me logo Genes that share ontologies with FTCD: view

miRNA for FTCD Gene

miRTarBase miRNAs that target FTCD

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for FTCD Gene COMPARTMENTS Subcellular localization image for FTCD gene
Compartment Confidence
cytoskeleton 5
cytosol 4
golgi apparatus 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for FTCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 10029623
GO:0005794 Golgi apparatus IEA --
GO:0005814 centriole IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton --
genes like me logo Genes that share ontologies with FTCD: view

Pathways for FTCD Gene

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

Pathways by source for FTCD Gene

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:0006760 folic acid-containing compound metabolic process TAS 10029623
GO:0007010 cytoskeleton organization IEA --
GO:0008152 metabolic process --
GO:0019556 histidine catabolic process to glutamate and formamide IEA --
genes like me logo Genes that share ontologies with FTCD: view

Compounds for FTCD Gene

(11) HMDB Compounds for FTCD Gene

Compound Synonyms Cas Number PubMed IDs
5,10-Methenyltetrahydrofolic acid
  • 5,10-Methenyltetrahydrofolate
7444-29-3
5-Formiminotetrahydrofolic acid
  • 5-formimidoyltetrahydrofolate
2311-81-1
Ammonia
  • NH3
7664-41-7
Famotidine
  • Amfamox
76824-35-6
Folic acid
  • Acifolic
59-30-3

(4) Drugbank Compounds for FTCD Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
5-Formyl-5,6,7,8-Tetrahydrofolate
58-05-9 target
L-Glutamic Acid
  • (2S)-2-Aminopentanedioic acid
56-86-0 target
Pyridoxal Phosphate
  • Codecarboxylase
54-47-7 target cofactor
Tetrahydrofolic acid
  • 5,6,7,8-tetrahydrofolate
135-16-0 target cofactor

(4) Novoseek inferred chemical compound relationships for FTCD Gene

Compound -log(P) Hits PubMed IDs
folate 47.8 5
leucovorin 37.8 1
histidine 34.9 2
glutamate 29.6 9
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
FTCD
ECgene alternative splicing isoforms for
FTCD

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 (36.1) and Kidney - Cortex (9.2).

Integrated Proteomics: protein expression 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 expressions with FTCD: view

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 35
  • 99.38 (n)
  • 99.26 (a)
FTCD 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FTCD 35
  • 84.47 (n)
  • 84.84 (a)
FTCD 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FTCD 35
  • 84.66 (n)
  • 83.73 (a)
FTCD 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ftcd 35
  • 80.35 (n)
  • 84.47 (a)
Ftcd 16
Ftcd 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 65 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ftcd 35
  • 80.71 (n)
  • 84.84 (a)
chicken
(Gallus gallus)
Aves FTCD 35
  • 70.49 (n)
  • 70.93 (a)
FTCD 36
  • 71 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 70 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia MGC64458 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ftcd 35
  • 65.37 (n)
  • 70.32 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.541 35
zebrafish
(Danio rerio)
Actinopterygii ftcd 35
  • 64.51 (n)
  • 66.3 (a)
ftcd 36
  • 65 (a)
ManyToMany
zgc63647 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6912 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToMany
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

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 MAF
rs12774 -- 46,136,879(-) GGAGG(A/G/T)TAGGT intron-variant, utr-variant-3-prime, missense, reference
rs725976 -- 46,137,966(-) tgagc(C/T)gtgat intron-variant
rs914245 -- 46,155,823(+) CCCAG(G/T)AGCAT upstream-variant-2KB
rs914246 -- 46,155,876(+) GTGCC(A/C)CTGCG upstream-variant-2KB
rs1047179 Benign 46,138,559(-) CCGGC(C/G)CTGCA reference, synonymous-codon

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

Relevant External Links for FTCD Gene

HapMap Linkage Disequilibrium report
FTCD
Human Gene Mutation Database (HGMD)
FTCD

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

Disorders for FTCD Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for FTCD Gene including...

Search for FTCD Gene in MalaCards »

(1) OMIM Diseases for FTCD Gene (606806)

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.

(1) University of Copenhagen DISEASES for FTCD Gene

(3) Novoseek inferred disease relationships for FTCD Gene

Disease -log(P) Hits PubMed IDs
glutamate formiminotransferase deficiency 98.3 7
hepatitis autoimmune 80.7 6
tumors 0 2

Relevant External Links for FTCD

Genetic Association Database (GAD)
FTCD
Human Genome Epidemiology (HuGE) Navigator
FTCD
genes like me logo Genes that share disorders with FTCD: view

Publications for FTCD Gene

  1. 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 23
  2. 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
  3. The molecular basis of glutamate formiminotransferase deficiency. (PMID: 12815595) Hilton J.F. … Rosenblatt D.S. (Hum. Mutat. 2003) 3 4 23
  4. An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). (PMID: 19161160) Franke B. … Blom H.J. (Birth Defects Res. Part A Clin. Mol. Teratol. 2009) 3 48
  5. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PMID: 19204726) Chapuis J. … Lambert J.C. (Mol. Psychiatry 2009) 3 48

Products for FTCD Gene

Sources for FTCD Gene

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