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    Mthfd1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase [ Mus musculus (house mouse) ]

    Gene ID: 108156, updated on 9-Dec-2024

    Summary

    Official Symbol
    Mthfd1provided by MGI
    Official Full Name
    methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthaseprovided by MGI
    Primary source
    MGI:MGI:1342005
    See related
    Ensembl:ENSMUSG00000021048 AllianceGenome:MGI:1342005
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Dcs; Mthfd; E430024A07Rik
    Summary
    This gene encodes a trifunctional cytoplasmic enzyme. The encoded protein functions as a methylenetetrahydrofolate dehydrogenase, a methenyltetrahydrofolate cyclohydrolase, and a formyltetrahydrofolate synthase. The encoded enzyme functions in de novo synthesis of purines and thymidylate and in regeneration of methionine from homocysteine. [provided by RefSeq, Oct 2009]
    Expression
    Ubiquitous expression in kidney adult (RPKM 44.6), liver adult (RPKM 41.3) and 27 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Mthfd1 in Genome Data Viewer
    Location:
    12 C3; 12 33.52 cM
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (76301180..76366594)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (76254406..76319820)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene estrogen receptor 2 (beta) Neighboring gene non-histone chromosomal protein HMG-14 pseudogene Neighboring gene STARR-positive B cell enhancer mm9_chr12:77297652-77297952 Neighboring gene STARR-seq mESC enhancer starr_32511 Neighboring gene testis expressed gene 21 Neighboring gene STARR-seq mESC enhancer starr_32513 Neighboring gene STARR-positive B cell enhancer ABC_E4029 Neighboring gene predicted gene, 40444 Neighboring gene predicted gene, 40443 Neighboring gene A kinase anchor protein 5 Neighboring gene zinc finger and BTB domain containing 25 Neighboring gene STARR-seq mESC enhancer starr_32516 Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:77468237-77468545 Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:77468685-77468794 Neighboring gene zinc finger and BTB domain containing 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in 10-formyltetrahydrofolate biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in 10-formyltetrahydrofolate biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in L-histidine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in methionine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in methionine biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in methionine metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neural tube closure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neutrophil homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in one-carbon metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in purine nucleotide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of purine nucleotide biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of purine ribonucleotide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in serine family amino acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in serine family amino acid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in serine family amino acid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in somite development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in tetrahydrofolate interconversion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in tetrahydrofolate interconversion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tetrahydrofolate interconversion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in tetrahydrofolate interconversion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in transsulfuration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrion HDA PubMed 

    General protein information

    Preferred Names
    C-1-tetrahydrofolate synthase, cytoplasmic
    Names
    C1-THF synthase
    C1-tetrahydrofolate synthase
    NP_620084.2
    XP_030102369.1

    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.

    mRNA and Protein(s)

    1. NM_138745.2NP_620084.2  C-1-tetrahydrofolate synthase, cytoplasmic

      See identical proteins and their annotated locations for NP_620084.2

      Status: REVIEWED

      Source sequence(s)
      AK042958, AK159812, AW536566, CD545120
      Consensus CDS
      CCDS25990.1
      UniProtKB/Swiss-Prot
      Q8R013, Q922D8
      UniProtKB/TrEMBL
      Q3TW74
      Related
      ENSMUSP00000021443.6, ENSMUST00000021443.7
      Conserved Domains (4) summary
      cd01080
      Location:120292
      NAD_bind_m-THF_DH_Cyclohyd; NADP binding domain of methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      PLN02759
      Location:309935
      PLN02759; Formate--tetrahydrofolate ligase
      COG0190
      Location:6294
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:6125
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      76301180..76366594
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030246509.1XP_030102369.1  C-1-tetrahydrofolate synthase, cytoplasmic isoform X1

      UniProtKB/TrEMBL
      A0A1W2P733, Q3TW74
      Related
      ENSMUSP00000151500.2, ENSMUST00000220046.2
      Conserved Domains (2) summary
      cd01080
      Location:1112
      NAD_bind_m-THF_DH_Cyclohyd; NADP binding domain of methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      PLN02759
      Location:129755
      PLN02759; Formate--tetrahydrofolate ligase