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

Gene ID: 108156, updated on 12-May-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
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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

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
 
enables formate-tetrahydrofolate ligase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables formate-tetrahydrofolate ligase activity ISO
Inferred from Sequence Orthology
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables ligase activity IEA
Inferred from Electronic Annotation
more info
 
enables methenyltetrahydrofolate cyclohydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables methenyltetrahydrofolate cyclohydrolase activity ISO
Inferred from Sequence Orthology
more info
 
enables methylenetetrahydrofolate dehydrogenase (NAD+) activity IDA
Inferred from Direct Assay
more info
PubMed 
enables methylenetetrahydrofolate dehydrogenase (NADP+) activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables methylenetetrahydrofolate dehydrogenase (NADP+) activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables methylenetetrahydrofolate dehydrogenase (NADP+) activity ISO
Inferred from Sequence Orthology
more info
 
enables methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity ISO
Inferred from Sequence Orthology
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
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
 
acts_upstream_of_or_within amino acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within histidine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within metabolic 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 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 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
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
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)

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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.

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