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FTCD formimidoyltransferase cyclodeaminase [ Homo sapiens (human) ]

Gene ID: 10841, updated on 2-Nov-2024

Summary

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Official Symbol
FTCDprovided by HGNC
Official Full Name
formimidoyltransferase cyclodeaminaseprovided by HGNC
Primary source
HGNC:HGNC:3974
See related
Ensembl:ENSG00000160282 MIM:606806; AllianceGenome:HGNC:3974
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LCHC1
Summary
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]
Expression
Biased expression in liver (RPKM 54.7), kidney (RPKM 35.5) and 1 other tissue See more
Orthologs
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Genomic context

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See FTCD in Genome Data Viewer
Location:
21q22.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (46136262..46155579, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (44514323..44534996, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (47556176..47575493, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene COL6A2 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 12001 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr21:47527125-47527884 Neighboring gene uncharacterized LOC124905043 Neighboring gene collagen type VI alpha 2 chain Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47551971-47552475 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47556247-47557020 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:47560109-47560298 Neighboring gene Sharpr-MPRA regulatory region 3768 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47571745-47572448 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47572449-47573154 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47573155-47573858 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47573859-47574562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47574563-47575266 Neighboring gene FTCD antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47590104-47590604 Neighboring gene spermatogenesis and centriole associated 1 like Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47590605-47591105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47600015-47600618 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47602435-47603038 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47603039-47603642 Neighboring gene uncharacterized LOC124905045 Neighboring gene lanosterol synthase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Formiminotransferase cyclodeaminase is an organ-specific autoantigen recognized by sera of patients with autoimmune hepatitis. Lapierre P, et al. Gastroenterology, 1999 Mar. PMID 10029623
  2. A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh. Pierce BL, et al. PLoS Genet, 2019 Mar. PMID 30893314, Free PMC Article
  3. A functional promoter variant of the human formimidoyltransferase cyclodeaminase (FTCD) gene is associated with working memory performance in young but not older adults. Greenwood PM, et al. Neuropsychology, 2018 Nov. PMID 29927301
  4. Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria. Majumdar R, et al. Mol Genet Genomic Med, 2017 Nov. PMID 29178637, Free PMC Article
  5. A formiminotransferase cyclodeaminase isoform is localized to the Golgi complex and can mediate interaction of trans-Golgi network-derived vesicles with microtubules. Hennig D, et al. J Biol Chem, 1998 Jul 31. PMID 9677386

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. p97 and p47 function in membrane tethering in cooperation with FTCD during mitotic Golgi reassembly.
    Title: p97 and p47 function in membrane tethering in cooperation with FTCD during mitotic Golgi reassembly.
  2. The Diagnostic Value of Arginase-1, FTCD, and MOC-31 Expression in Early Detection of Hepatocellular Carcinoma (HCC) and in Differentiation Between HCC and Metastatic Adenocarcinoma to the Liver.
    Title: The Diagnostic Value of Arginase-1, FTCD, and MOC-31 Expression in Early Detection of Hepatocellular Carcinoma (HCC) and in Differentiation Between HCC and Metastatic Adenocarcinoma to the Liver.
  3. the minor allele (A) of rs61735836 (p.Val101Met) in exon 3 of FTCD was associated with increased urinary Inorganic arsenics % (P = 8x10-13), increased mono-methylated arsenic % (P = 2x10-16) and decreased di-methylated arsenic % (P = 6x10-23).
    Title: A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh.
  4. The rs914246 variant, but not the rs914245 variant, of the FTCD gene modulated accuracy in the task for younger, but not older, people under high working memory
    Title: A functional promoter variant of the human formimidoyltransferase cyclodeaminase (FTCD) gene is associated with working memory performance in young but not older adults.
  5. The formiminotransferase-cyclodeaminase allelic spectrum comprised of 12 distinct variants including 5 missense alterations, an in-frame deletion, two frameshift variants and four nonsense variants with the remaining alterations predicted to affect mRNA processing/stability.
    Title: Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.
  6. FTCD is a positive regulator of the hypoxia-HIF signaling pathway and has an important role in cell proliferation, metabolism and migration in HepG2 cells
    Title: Using a yeast two-hybrid system to identify FTCD as a new regulator for HIF-1α in HepG2 cells.
  7. The FTCD promoter is activated by serum depletion according to promoter reporter assays in HEK 293 cells.
    Title: Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters.
  8. Scyl1 interacts with 58K/formiminotransferase cyclodeaminase (FTCD) and golgin p115, and is required for the maintenance of Golgi morphology
    Title: Scyl1 regulates Golgi morphology.
  9. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Glutamate formiminotransferase deficiency
MedGen: C0268609 OMIM: 229100 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables folic acid binding IEA
Inferred from Electronic Annotation
more info
  
enables formimidoyltetrahydrofolate cyclodeaminase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables glutamate formimidoyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glutamate formimidoyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables microtubule binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in L-histidine catabolic process to glutamate and formamide IEA
Inferred from Electronic Annotation
more info
  
involved_in L-histidine catabolic process to glutamate and formate IEA
Inferred from Electronic Annotation
more info
  
involved_in cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
  
involved_in folic acid-containing compound metabolic process TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in Golgi membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in centriole IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm TAS
Traceable Author Statement
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum-Golgi intermediate compartment ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in extracellular exosome HDA PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in smooth endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
formimidoyltransferase-cyclodeaminase
Names
formiminotransferase-cyclodeaminase
NP_001307341.1
NP_006648.1
NP_996848.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016191.1 RefSeqGene

    Range
    4989..23789
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001320412.2 → NP_001307341.1  formimidoyltransferase-cyclodeaminase isoform C

    Status: REVIEWED

    Description
    Transcript Variant: This variant (C) has multiple differences in the 3' coding region and 3' UTR, one of which results in a translational frameshift, compared to variant A. The resulting protein (isoform C) has a distinct C-terminus and is longer than isoform A.
    Source sequence(s)
    AF289022, AP001468, BC052248, BC136395
    Consensus CDS
    CCDS82684.1
    Related
    ENSP00000380856.1, ENST00000397748.5
    Conserved Domains (4) summary
    TIGR02024
    Location:1 → 328
    FtcD; glutamate formiminotransferase
    pfam02971
    Location:181 → 324
    FTCD; Formiminotransferase domain
    pfam04961
    Location:370 → 513
    FTCD_C; Formiminotransferase-cyclodeaminase
    pfam07837
    Location:7 → 179
    FTCD_N; Formiminotransferase domain, N-terminal subdomain

  2. NM_006657.3 → NP_006648.1  formimidoyltransferase-cyclodeaminase isoform A

    See identical proteins and their annotated locations for NP_006648.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (B) differs in the 3' UTR compared to variant A. Variants A and B encode the same protein (isoform A).
    Source sequence(s)
    AF289021, AP001468, BC052248, BI966164
    Consensus CDS
    CCDS13731.1
    UniProtKB/Swiss-Prot
    B9EGD0, O95954, Q86V03, Q9HCT4, Q9HCT5, Q9HCT6, Q9UHJ2
    Related
    ENSP00000291670.5, ENST00000291670.9
    Conserved Domains (4) summary
    TIGR02024
    Location:1 → 328
    FtcD; glutamate formiminotransferase
    pfam02971
    Location:181 → 324
    FTCD; Formiminotransferase domain
    pfam04961
    Location:370 → 519
    FTCD_C; Formiminotransferase-cyclodeaminase
    pfam07837
    Location:7 → 179
    FTCD_N; Formiminotransferase domain, N-terminal subdomain

  3. NM_206965.2 → NP_996848.1  formimidoyltransferase-cyclodeaminase isoform A

    See identical proteins and their annotated locations for NP_996848.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (A) represents the predominant transcript. Variants A and B encode the same protein (isoform A).
    Source sequence(s)
    AA719282, AF169017, AF289021, AP001468, BM021970
    Consensus CDS
    CCDS13731.1
    UniProtKB/Swiss-Prot
    B9EGD0, O95954, Q86V03, Q9HCT4, Q9HCT5, Q9HCT6, Q9UHJ2
    Related
    ENSP00000380854.3, ENST00000397746.8
    Conserved Domains (4) summary
    TIGR02024
    Location:1 → 328
    FtcD; glutamate formiminotransferase
    pfam02971
    Location:181 → 324
    FTCD; Formiminotransferase domain
    pfam04961
    Location:370 → 519
    FTCD_C; Formiminotransferase-cyclodeaminase
    pfam07837
    Location:7 → 179
    FTCD_N; Formiminotransferase domain, N-terminal subdomain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    46136262..46155579 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187626.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    4876..14638 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    44514323..44534996 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95954.2 GenPept UniProtKB/Swiss-Prot:O95954

Gene LinkOut

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