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    Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 64300, updated on 9-Dec-2024

    Summary

    Official Symbol
    Mthfd1provided by RGD
    Official Full Name
    methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1provided by RGD
    Primary source
    RGD:708531
    See related
    EnsemblRapid:ENSRNOG00000005602 AllianceGenome:RGD:708531
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable formate-tetrahydrofolate ligase activity; methenyltetrahydrofolate cyclohydrolase activity; and methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity. Involved in one-carbon metabolic process and response to nitrogen dioxide. Predicted to be active in cytosol. Human ortholog(s) of this gene implicated in several diseases, including Down syndrome; abdominal aortic aneurysm; cleft lip; developmental cardiac valvular defect; and neural tube defect (multiple). Orthologous to human MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Kidney (RPKM 505.1), Liver (RPKM 397.2) and 9 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Mthfd1 in Genome Data Viewer
    Location:
    6q24
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 6 NC_086024.1 (100713510..100781013)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 6 NC_051341.1 (94977862..95045375)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 6 NC_005105.4 (99282850..99350367)

    Chromosome 6 - NC_086024.1Genomic Context describing neighboring genes Neighboring gene estrogen receptor 2 Neighboring gene testis expressed 21 Neighboring gene ribosomal protein L11, pseudogene 7 Neighboring gene A-kinase anchoring protein 5 Neighboring gene zinc finger and BTB domain containing 25

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    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

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables formate-tetrahydrofolate ligase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables formate-tetrahydrofolate ligase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables formate-tetrahydrofolate ligase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables formate-tetrahydrofolate ligase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables methenyltetrahydrofolate cyclohydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables methenyltetrahydrofolate cyclohydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables methenyltetrahydrofolate cyclohydrolase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables methenyltetrahydrofolate cyclohydrolase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables methenyltetrahydrofolate cyclohydrolase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables methylenetetrahydrofolate dehydrogenase (NAD+) activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables methylenetetrahydrofolate dehydrogenase (NAD+) activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables methylenetetrahydrofolate dehydrogenase (NADP+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables methylenetetrahydrofolate dehydrogenase (NADP+) activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables methylenetetrahydrofolate dehydrogenase (NADP+) activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables methylenetetrahydrofolate dehydrogenase (NADP+) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in 10-formyltetrahydrofolate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development ISO
    Inferred from Sequence Orthology
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in neural tube closure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neural tube closure ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in neutrophil homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neutrophil homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in one-carbon metabolic process IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in one-carbon metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of purine nucleotide biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in purine nucleotide biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of purine nucleotide biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in purine ribonucleotide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of purine ribonucleotide biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to nitrogen dioxide IEP
    Inferred from Expression Pattern
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in somite development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in somite development ISO
    Inferred from Sequence Orthology
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in tetrahydrofolate interconversion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in tetrahydrofolate metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in transsulfuration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transsulfuration ISO
    Inferred from Sequence Orthology
    more info
     
    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
     

    General protein information

    Preferred Names
    C-1-tetrahydrofolate synthase, cytoplasmic
    Names
    C1-THF synthase
    C1-tetrahydrofolate synthase
    methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
    methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase
    NP_071953.2
    XP_006240311.1

    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_022508.2NP_071953.2  C-1-tetrahydrofolate synthase, cytoplasmic

      Status: PROVISIONAL

      Source sequence(s)
      JAXUCZ010000006
      UniProtKB/Swiss-Prot
      P27653, Q62808
      UniProtKB/TrEMBL
      A6HCA0, G3V6S5, Q5EBC3
      Related
      ENSRNOP00000008374.3, ENSRNOT00000008374.5
      Conserved Domains (2) summary
      PLN02759
      Location:309935
      PLN02759; Formate--tetrahydrofolate ligase
      COG0190
      Location:6297
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086024.1 Reference GRCr8

      Range
      100713510..100781013
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006240249.5XP_006240311.1  C-1-tetrahydrofolate synthase, cytoplasmic isoform X1

      UniProtKB/Swiss-Prot
      P27653, Q62808
      UniProtKB/TrEMBL
      A0A8I5ZJK8, Q5EBC3
      Related
      ENSRNOP00000077791.1, ENSRNOT00000100905.2
      Conserved Domains (4) summary
      cd01080
      Location:126298
      NAD_bind_m-THF_DH_Cyclohyd; NADP binding domain of methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      PLN02759
      Location:315941
      PLN02759; Formate--tetrahydrofolate ligase
      COG0190
      Location:17303
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:18131
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain