Human Gene FTCD (ENST00000291670.9) from GENCODE V44
  Description: Homo sapiens formimidoyltransferase cyclodeaminase (FTCD), transcript variant B, mRNA. (from RefSeq NM_006657)
RefSeq Summary (NM_006657): 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].
Gencode Transcript: ENST00000291670.9
Gencode Gene: ENSG00000160282.15
Transcript (Including UTRs)
   Position: hg38 chr21:46,136,262-46,155,567 Size: 19,306 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg38 chr21:46,136,987-46,155,523 Size: 18,537 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:46,136,262-46,155,567)mRNA (may differ from genome)Protein (541 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FTCD_HUMAN
DESCRIPTION: RecName: Full=Formimidoyltransferase-cyclodeaminase; AltName: Full=Formiminotransferase-cyclodeaminase; Short=FTCD; AltName: Full=LCHC1; Includes: RecName: Full=Glutamate formimidoyltransferase; EC=2.1.2.5; AltName: Full=Glutamate formiminotransferase; AltName: Full=Glutamate formyltransferase; Includes: RecName: Full=Formimidoyltetrahydrofolate cyclodeaminase; EC=4.3.1.4; AltName: Full=Formiminotetrahydrofolate cyclodeaminase;
FUNCTION: Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool.
FUNCTION: Binds and promotes bundling of vimentin filaments originating from the Golgi (By similarity).
CATALYTIC ACTIVITY: 5-formimidoyltetrahydrofolate + L-glutamate = tetrahydrofolate + N-formimidoyl-L-glutamate.
CATALYTIC ACTIVITY: 5-formyltetrahydrofolate + L-glutamate = tetrahydrofolate + N-formyl-L-glutamate.
CATALYTIC ACTIVITY: 5-formimidoyltetrahydrofolate = 5,10- methenyltetrahydrofolate + NH(3).
COFACTOR: Pyridoxal phosphate.
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.
SUBUNIT: Homooctamer, including four polyglutamate binding sites. The subunits are arranged as a tetramer of dimers, and form a planar ring-shaped structure (By similarity).
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome, centriole. Golgi apparatus (By similarity). Note=More abundantly located around the mother centriole.
DISEASE: Defects in FTCD are the cause of glutamate formiminotransferase deficiency (FIGLU-URIA) [MIM:229100]; also known as formiminoglutamicaciduria (FIGLU-uria). It is an 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.
SIMILARITY: In the C-terminal section; belongs to the cyclodeaminase/cyclohydrolase family.
SIMILARITY: In the N-terminal section; belongs to the formiminotransferase family.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FTCD
Diseases sorted by gene-association score: glutamate formiminotransferase deficiency* (1713), autoimmune hepatitis (25), amelogenesis imperfecta, type 1e (9), amelogenesis imperfecta, type ib (7), developmental coordination disorder (7), megaloblastic anemia (7), autoimmune disease of gastrointestinal tract (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 158.09 RPKM in Liver
Total median expression: 240.28 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.1044-0.298 Picture PostScript Text
3' UTR -67.30235-0.286 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007044 - Cyclodeamin/CycHdrlase
IPR013802 - Formiminotransferase_C
IPR004227 - Formiminotransferase_cat
IPR012886 - Formiminotransferase_N
IPR022384 - FormiminoTrfase_N/C_subdom

Pfam Domains:
PF02971 - Formiminotransferase domain
PF04961 - Formiminotransferase-cyclodeaminase
PF07837 - Formiminotransferase domain, N-terminal subdomain

ModBase Predicted Comparative 3D Structure on O95954
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0005515 protein binding
GO:0005542 folic acid binding
GO:0008017 microtubule binding
GO:0016740 transferase activity
GO:0016829 lyase activity
GO:0030407 formimidoyltransferase activity
GO:0030409 glutamate formimidoyltransferase activity
GO:0030412 formimidoyltetrahydrofolate cyclodeaminase activity

Biological Process:
GO:0006547 histidine metabolic process
GO:0006548 histidine catabolic process
GO:0006760 folic acid-containing compound metabolic process
GO:0008152 metabolic process
GO:0019556 histidine catabolic process to glutamate and formamide
GO:0019557 histidine catabolic process to glutamate and formate
GO:0035999 tetrahydrofolate interconversion
GO:0044237 cellular metabolic process

Cellular Component:
GO:0000139 Golgi membrane
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0005794 Golgi apparatus
GO:0005814 centriole
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0030868 smooth endoplasmic reticulum membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC052248 - Homo sapiens formiminotransferase cyclodeaminase, mRNA (cDNA clone MGC:59738 IMAGE:6270063), complete cds.
AL109817 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 125195.
BC032037 - Homo sapiens formiminotransferase cyclodeaminase, mRNA (cDNA clone IMAGE:4825985), complete cds.
AF289021 - Homo sapiens formiminotransferase cyclodeaminase form B (FTCD) mRNA, complete cds.
AF289022 - Homo sapiens formiminotransferase cyclodeaminase form C (FTCD) mRNA, complete cds.
AF289024 - Homo sapiens formiminotransferase cyclodeaminase form E (FTCD) mRNA, complete cds.
U91541 - Human formiminotransferase cyclodeaminase (ftcd) mRNA, partial cds.
AF169017 - Homo sapiens formiminotransferase cyclodeaminase (FTCD) mRNA, complete cds.
AF289023 - Homo sapiens formiminotransferase cyclodeaminase form D (FTCD) mRNA, complete cds.
BC136395 - Homo sapiens formiminotransferase cyclodeaminase, mRNA (cDNA clone MGC:168005 IMAGE:9020382), complete cds.
BC136383 - Homo sapiens formiminotransferase cyclodeaminase, mRNA (cDNA clone MGC:167993 IMAGE:9020370), complete cds.
JD392733 - Sequence 373757 from Patent EP1572962.
JD392732 - Sequence 373756 from Patent EP1572962.
JD416744 - Sequence 397768 from Patent EP1572962.
JD131762 - Sequence 112786 from Patent EP1572962.
JD297843 - Sequence 278867 from Patent EP1572962.
JD401506 - Sequence 382530 from Patent EP1572962.
JD497880 - Sequence 478904 from Patent EP1572962.
JD516432 - Sequence 497456 from Patent EP1572962.
JD341116 - Sequence 322140 from Patent EP1572962.
JD424824 - Sequence 405848 from Patent EP1572962.
JD465738 - Sequence 446762 from Patent EP1572962.
JD163429 - Sequence 144453 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00340 - Histidine metabolism
hsa00670 - One carbon pool by folate
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein O95954 (Reactome details) participates in the following event(s):

R-HSA-70920 N-formiminoglutamate + tetrahydrofolate => glutamate + 5-formiminotetrahydrofolate
R-HSA-70921 Histidine catabolism
R-HSA-6788656 Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B9EGD0, ENST00000291670.1, ENST00000291670.2, ENST00000291670.3, ENST00000291670.4, ENST00000291670.5, ENST00000291670.6, ENST00000291670.7, ENST00000291670.8, FTCD_HUMAN, NM_006657, O95954, Q86V03, Q9HCT4, Q9HCT5, Q9HCT6, Q9UHJ2, uc002zif.1, uc002zif.2, uc002zif.3
UCSC ID: ENST00000291670.9
RefSeq Accession: NM_006657
Protein: O95954 (aka FTCD_HUMAN)
CCDS: CCDS13731.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.