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    Mthfr 5,10-methylenetetrahydrofolate reductase [ Mus musculus (house mouse) ]

    Gene ID: 17769, updated on 21-May-2017
    Official Symbol
    Mthfrprovided by MGI
    Official Full Name
    5,10-methylenetetrahydrofolate reductaseprovided by MGI
    Primary source
    MGI:MGI:106639
    See related
    Ensembl:ENSMUSG00000029009 Vega:OTTMUSG00000010193
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    AI323986
    Orthologs
    Location:
    4 E2; 4 78.67 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 4 NC_000070.6 (148038317..148059565)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 4 NC_000070.5 (147413186..147433671)

    Chromosome 4 - NC_000070.6Genomic Context describing neighboring genes Neighboring gene natriuretic peptide type A Neighboring gene chloride channel, voltage-sensitive 6 Neighboring gene NSA2 ribosome biogenesis homolog pseudogene Neighboring gene predicted gene 13201 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 2, pseudogene Neighboring gene angiotensin II, type I receptor-associated protein

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    NADP binding ISO
    Inferred from Sequence Orthology
    more info
     
    catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    flavin adenine dinucleotide binding ISO
    Inferred from Sequence Orthology
    more info
     
    methylenetetrahydrofolate reductase (NAD(P)H) activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    methylenetetrahydrofolate reductase (NAD(P)H) activity ISO
    Inferred from Sequence Orthology
    more info
     
    modified amino acid binding ISO
    Inferred from Sequence Orthology
    more info
     
    oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    heterochromatin maintenance ISO
    Inferred from Sequence Orthology
    more info
     
    homocysteine metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    methionine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    methionine metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    one-carbon metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of histone methylation ISO
    Inferred from Sequence Orthology
    more info
     
    tetrahydrofolate interconversion ISO
    Inferred from Sequence Orthology
    more info
     
    tetrahydrofolate metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    synapse ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    methylenetetrahydrofolate reductase
    NP_001155270.1
    NP_034970.2
    XP_006538680.1
    XP_006538681.1
    XP_006538682.1
    XP_006538683.1
    XP_006538684.1
    XP_006538685.1

    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_001161798.1NP_001155270.1  methylenetetrahydrofolate reductase isoform a

      See identical proteins and their annotated locations for NP_001155270.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AK150159, BB726553, BC100550
      Consensus CDS
      CCDS51376.1
      UniProtKB/TrEMBL
      A2A7F7, Q3UDB2, Q497H7
      Related
      ENSMUSP00000069774.8, OTTMUSP00000010828, ENSMUST00000069604.14, OTTMUST00000023686
      Conserved Domains (1) summary
      cl00246
      Location:100666
      MTHFR; Methylenetetrahydrofolate reductase (MTHFR). 5,10-Methylenetetrahydrofolate is reduced to 5-methyltetrahydrofolate by methylenetetrahydrofolate reductase, a cytoplasmic, NAD(P)-dependent enzyme. 5-methyltetrahydrofolate is utilized by methionine synthase ...
    2. NM_010840.3NP_034970.2  methylenetetrahydrofolate reductase isoform b

      See identical proteins and their annotated locations for NP_034970.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translational start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AK030192, AL606929, BB726553, BC100550
      Consensus CDS
      CCDS18929.1
      UniProtKB/Swiss-Prot
      Q9WU20
      UniProtKB/TrEMBL
      Q497H7
      Related
      ENSMUSP00000095395.4, OTTMUSP00000010830, ENSMUST00000097788.10, OTTMUST00000023688
      Conserved Domains (1) summary
      cl00246
      Location:59625
      MTHFR; Methylenetetrahydrofolate reductase (MTHFR). 5,10-Methylenetetrahydrofolate is reduced to 5-methyltetrahydrofolate by methylenetetrahydrofolate reductase, a cytoplasmic, NAD(P)-dependent enzyme. 5-methyltetrahydrofolate is utilized by methionine synthase ...

    RNA

    1. NR_027809.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks a segment of the 3' region, compared to variant 1. This variant has an intact ORF compared to variant 1, but it is represented as non-coding because it is a nonsense-mediated mRNA decay (NMD) candidate due to the presence of an intron at the 3' end.
      Source sequence(s)
      AK149795, AK150159, BB726553, BC100550

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000070.6 Reference GRCm38.p4 C57BL/6J

      Range
      148038317..148059565
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006538618.3XP_006538681.1  methylenetetrahydrofolate reductase isoform X2

      Conserved Domains (1) summary
      cl00246
      Location:93662
      MTHFR; Methylenetetrahydrofolate reductase (MTHFR). 5,10-Methylenetetrahydrofolate is reduced to 5-methyltetrahydrofolate by methylenetetrahydrofolate reductase, a cytoplasmic, NAD(P)-dependent enzyme. 5-methyltetrahydrofolate is utilized by methionine synthase ...
    2. XM_006538620.3XP_006538683.1  methylenetetrahydrofolate reductase isoform X3

      See identical proteins and their annotated locations for XP_006538683.1

      Conserved Domains (1) summary
      cl00246
      Location:59628
      MTHFR; Methylenetetrahydrofolate reductase (MTHFR). 5,10-Methylenetetrahydrofolate is reduced to 5-methyltetrahydrofolate by methylenetetrahydrofolate reductase, a cytoplasmic, NAD(P)-dependent enzyme. 5-methyltetrahydrofolate is utilized by methionine synthase ...
    3. XM_006538622.3XP_006538685.1  methylenetetrahydrofolate reductase isoform X3

      See identical proteins and their annotated locations for XP_006538685.1

      Conserved Domains (1) summary
      cl00246
      Location:59628
      MTHFR; Methylenetetrahydrofolate reductase (MTHFR). 5,10-Methylenetetrahydrofolate is reduced to 5-methyltetrahydrofolate by methylenetetrahydrofolate reductase, a cytoplasmic, NAD(P)-dependent enzyme. 5-methyltetrahydrofolate is utilized by methionine synthase ...
    4. XM_006538619.1XP_006538682.1  methylenetetrahydrofolate reductase isoform X3

      See identical proteins and their annotated locations for XP_006538682.1

      Conserved Domains (1) summary
      cl00246
      Location:59628
      MTHFR; Methylenetetrahydrofolate reductase (MTHFR). 5,10-Methylenetetrahydrofolate is reduced to 5-methyltetrahydrofolate by methylenetetrahydrofolate reductase, a cytoplasmic, NAD(P)-dependent enzyme. 5-methyltetrahydrofolate is utilized by methionine synthase ...
    5. XM_006538621.1XP_006538684.1  methylenetetrahydrofolate reductase isoform X3

      See identical proteins and their annotated locations for XP_006538684.1

      Conserved Domains (1) summary
      cl00246
      Location:59628
      MTHFR; Methylenetetrahydrofolate reductase (MTHFR). 5,10-Methylenetetrahydrofolate is reduced to 5-methyltetrahydrofolate by methylenetetrahydrofolate reductase, a cytoplasmic, NAD(P)-dependent enzyme. 5-methyltetrahydrofolate is utilized by methionine synthase ...
    6. XM_006538617.3XP_006538680.1  methylenetetrahydrofolate reductase isoform X1

      Conserved Domains (1) summary
      cl00246
      Location:100669
      MTHFR; Methylenetetrahydrofolate reductase (MTHFR). 5,10-Methylenetetrahydrofolate is reduced to 5-methyltetrahydrofolate by methylenetetrahydrofolate reductase, a cytoplasmic, NAD(P)-dependent enzyme. 5-methyltetrahydrofolate is utilized by methionine synthase ...

    RNA

    1. XR_390731.3 RNA Sequence

    2. XR_390733.3 RNA Sequence

    3. XR_390732.3 RNA Sequence

    Reference GRCm38.p4 NOD/MrkTac

    Genomic

    1. NT_166299.2 Reference GRCm38.p4 NOD/MrkTac

      Range
      1443058..1463503
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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