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    FTCD formimidoyltransferase cyclodeaminase [ Homo sapiens (human) ]

    Gene ID: 10841, updated on 27-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
    mouse all
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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
    • 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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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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
    		Compare labs

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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