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    MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase [ Homo sapiens (human) ]

    Gene ID: 4522, updated on 26-Jul-2015
    Official Symbol
    MTHFD1provided by HGNC
    Official Full Name
    methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetaseprovided by HGNC
    Primary source
    HGNC:HGNC:7432
    See related
    Ensembl:ENSG00000100714; HPRD:01403; MIM:172460; Vega:OTTHUMG00000141309
    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
    MTHFC; MTHFD
    Summary
    This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008]
    Orthologs
    See MTHFD1 in Epigenomics, MapViewer
    Location:
    14q24
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 14 NC_000014.9 (64388041..64460007)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (64854754..64926725)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene spectrin repeat containing, nuclear envelope 2 Neighboring gene estrogen receptor 2 (ER beta) Neighboring gene testis expressed 21, pseudogene Neighboring gene zinc finger and BTB domain containing 25 Neighboring gene uncharacterized LOC102723809 Neighboring gene A kinase (PRKA) anchor protein 5 Neighboring gene zinc finger and BTB domain containing 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Neural tube defects, folate-sensitive
    MedGen: C1866558 OMIM: 601634 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    formate-tetrahydrofolate ligase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    formate-tetrahydrofolate ligase activity TAS
    Traceable Author Statement
    more info
     
    methenyltetrahydrofolate cyclohydrolase activity TAS
    Traceable Author Statement
    more info
     
    methylenetetrahydrofolate dehydrogenase (NAD+) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    methylenetetrahydrofolate dehydrogenase (NADP+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    10-formyltetrahydrofolate biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic neurocranium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic viscerocranium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    folic acid metabolic process TAS
    Traceable Author Statement
    more info
     
    heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    histidine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    methionine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    methionine metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neural tube closure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    one-carbon metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    purine nucleotide biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    serine family amino acid biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    serine family amino acid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    somite development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    tetrahydrofolate interconversion IEA
    Inferred from Electronic Annotation
    more info
     
    tetrahydrofolate interconversion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    vitamin metabolic process TAS
    Traceable Author Statement
    more info
     
    water-soluble vitamin metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    C-1-tetrahydrofolate synthase, cytoplasmic
    Names
    5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methylenetetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthetase
    C1-THF synthase
    cytoplasmic C-1-tetrahydrofolate synthase
    NP_005947.3

    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_012450.1 RefSeqGene

      Range
      5001..76967
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005956.3NP_005947.3  C-1-tetrahydrofolate synthase, cytoplasmic

      Status: REVIEWED

      Source sequence(s)
      AL122035, BQ959308, CA446032, DC368835, J04031
      Consensus CDS
      CCDS9763.1
      UniProtKB/Swiss-Prot
      P11586
      Related
      ENSP00000216605, OTTHUMP00000273886, ENST00000216605, OTTHUMT00000471593
      Conserved Domains (4) summary
      cd01080
      Location:120292
      NAD_bind_m-THF_DH_Cyclohyd; NADP binding domain of methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      COG0190
      Location:6294
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      cd00477
      Location:333918
      FTHFS; Formyltetrahydrofolate synthetase (FTHFS) catalyzes the ATP-dependent activation of formate ion via its addition to the N10 position of tetrahydrofolate. FTHFS is a highly expressed key enzyme in both the Wood-Ljungdahl pathway of autotrophic CO2 ...
      pfam00763
      Location:5125
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p2 Primary Assembly

      Range
      64388041..64460007
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      64794532..64866438
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)