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    FTCD formimidoyltransferase cyclodeaminase [ Homo sapiens (human) ]

    Gene ID: 10841, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001320412.2NP_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:1328
      FtcD; glutamate formiminotransferase
      pfam02971
      Location:181324
      FTCD; Formiminotransferase domain
      pfam04961
      Location:370513
      FTCD_C; Formiminotransferase-cyclodeaminase
      pfam07837
      Location:7179
      FTCD_N; Formiminotransferase domain, N-terminal subdomain
    2. NM_006657.3NP_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:1328
      FtcD; glutamate formiminotransferase
      pfam02971
      Location:181324
      FTCD; Formiminotransferase domain
      pfam04961
      Location:370519
      FTCD_C; Formiminotransferase-cyclodeaminase
      pfam07837
      Location:7179
      FTCD_N; Formiminotransferase domain, N-terminal subdomain
    3. NM_206965.2NP_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:1328
      FtcD; glutamate formiminotransferase
      pfam02971
      Location:181324
      FTCD; Formiminotransferase domain
      pfam04961
      Location:370519
      FTCD_C; Formiminotransferase-cyclodeaminase
      pfam07837
      Location:7179
      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)