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    Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase [ Mus musculus (house mouse) ]

    Gene ID: 210009, updated on 9-Sep-2018

    Summary

    Official Symbol
    Mtrrprovided by MGI
    Official Full Name
    5-methyltetrahydrofolate-homocysteine methyltransferase reductaseprovided by MGI
    Primary source
    MGI:MGI:1891037
    See related
    Ensembl:ENSMUSG00000034617
    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
    MSR; 4732420G08
    Summary
    Methionine is an essential amino acid required for protein synthesis and one-carbon metabolism. Its synthesis is catalyzed by the enzyme methionine synthase. Methionine synthase eventually becomes inactive due to the oxidation of its cob(I)alamin cofactor. The protein encoded by this gene regenerates a functional methionine synthase via reductive methylation. It is a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. Mutations in a similar gene in human have been associated with cblE complementation type homocystinuria-megaloblastic anemia and susceptibility to folate-sensitive neural tube defects. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2015]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 4.4), placenta adult (RPKM 3.4) and 28 other tissues See more
    Orthologs

    Genomic context

    See Mtrr in Genome Data Viewer
    Location:
    13 B3; 13 35.54 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 13 NC_000079.6 (68560780..68582169, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 13 NC_000079.5 (68699657..68720998, complement)

    Chromosome 13 - NC_000079.6Genomic Context describing neighboring genes Neighboring gene predicted gene 8016 Neighboring gene predicted gene, 46386 Neighboring gene RIKEN cDNA 1700001L19 gene Neighboring gene FAST kinase domains 3 Neighboring gene predicted gene, 34903 Neighboring gene adenylate cyclase 2 Neighboring gene predicted gene, 34993

    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 FunctionsWhat's a GeneRIF?

    Variation

    Alleles

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

    Pathways from BioSystems

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    FAD binding ISO
    Inferred from Sequence Orthology
    more info
     
    FMN binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    FMN binding ISO
    Inferred from Sequence Orthology
    more info
     
    NADPH binding ISO
    Inferred from Sequence Orthology
    more info
     
    NADPH-hemoprotein reductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    NADPH-hemoprotein reductase activity ISO
    Inferred from Sequence Orthology
    more info
     
    [methionine synthase] reductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    [methionine synthase] reductase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    [methionine synthase] reductase activity ISO
    Inferred from Sequence Orthology
    more info
     
    aquacobalamin reductase (NADPH) activity ISO
    Inferred from Sequence Orthology
    more info
     
    aquacobalamin reductase activity ISO
    Inferred from Sequence Orthology
    more info
     
    flavin adenine dinucleotide binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    flavin adenine dinucleotide binding ISO
    Inferred from Sequence Orthology
    more info
     
    oxidoreductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    DNA methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    S-adenosylmethionine cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular amino acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    folic acid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    folic acid metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    homocysteine catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    homocysteine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    homocysteine metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    methionine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    methionine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    methionine biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of cystathionine beta-synthase activity ISO
    Inferred from Sequence Orthology
    more info
     
    oxidation-reduction process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein stabilization ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    methionine synthase reductase
    NP_001295404.1
    NP_766068.1
    XP_006517242.1
    XP_006517244.1
    XP_006517245.1

    NCBI Reference Sequences (RefSeq)

    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_001308475.1NP_001295404.1  methionine synthase reductase

      See identical proteins and their annotated locations for NP_001295404.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      CT033781
      Consensus CDS
      CCDS26620.1
      UniProtKB/Swiss-Prot
      Q8C1A3
      UniProtKB/TrEMBL
      A0A0R4J0G9
      Related
      ENSMUSP00000152387.1, ENSMUST00000223398.1
      Conserved Domains (3) summary
      cd06203
      Location:275695
      methionine_synthase_red; Human methionine synthase reductase (MSR) restores methionine sythase which is responsible for the regeneration of methionine from homocysteine, as well as the coversion of methyltetrahydrofolate to tetrahydrofolate. In MSR, electrons are transferred ...
      COG0369
      Location:5695
      CysJ; Sulfite reductase, alpha subunit (flavoprotein) [Inorganic ion transport and metabolism]
      pfam00258
      Location:6142
      Flavodoxin_1; Flavodoxin
    2. NM_172480.3NP_766068.1  methionine synthase reductase

      See identical proteins and their annotated locations for NP_766068.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK028628, CJ077698, CT033781
      Consensus CDS
      CCDS26620.1
      UniProtKB/Swiss-Prot
      Q8C1A3
      UniProtKB/TrEMBL
      A0A0R4J0G9
      Related
      ENSMUSP00000039810.4, ENSMUST00000045827.4
      Conserved Domains (3) summary
      cd06203
      Location:275695
      methionine_synthase_red; Human methionine synthase reductase (MSR) restores methionine sythase which is responsible for the regeneration of methionine from homocysteine, as well as the coversion of methyltetrahydrofolate to tetrahydrofolate. In MSR, electrons are transferred ...
      COG0369
      Location:5695
      CysJ; Sulfite reductase, alpha subunit (flavoprotein) [Inorganic ion transport and metabolism]
      pfam00258
      Location:6142
      Flavodoxin_1; Flavodoxin

    RNA

    1. NR_131892.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons and uses and alternate 5' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK162978, CT033781
      Related
      ENSMUST00000223101.1

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000079.6 Reference GRCm38.p4 C57BL/6J

      Range
      68560780..68582169 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006517181.3XP_006517244.1  methionine synthase reductase isoform X1

      See identical proteins and their annotated locations for XP_006517244.1

      UniProtKB/Swiss-Prot
      Q8C1A3
      UniProtKB/TrEMBL
      A0A0R4J0G9
      Conserved Domains (3) summary
      cd06203
      Location:275695
      methionine_synthase_red; Human methionine synthase reductase (MSR) restores methionine sythase which is responsible for the regeneration of methionine from homocysteine, as well as the coversion of methyltetrahydrofolate to tetrahydrofolate. In MSR, electrons are transferred ...
      COG0369
      Location:5695
      CysJ; Sulfite reductase, alpha subunit (flavoprotein) [Inorganic ion transport and metabolism]
      pfam00258
      Location:6142
      Flavodoxin_1; Flavodoxin
    2. XM_006517182.1XP_006517245.1  methionine synthase reductase isoform X1

      See identical proteins and their annotated locations for XP_006517245.1

      UniProtKB/Swiss-Prot
      Q8C1A3
      UniProtKB/TrEMBL
      A0A0R4J0G9
      Conserved Domains (3) summary
      cd06203
      Location:275695
      methionine_synthase_red; Human methionine synthase reductase (MSR) restores methionine sythase which is responsible for the regeneration of methionine from homocysteine, as well as the coversion of methyltetrahydrofolate to tetrahydrofolate. In MSR, electrons are transferred ...
      COG0369
      Location:5695
      CysJ; Sulfite reductase, alpha subunit (flavoprotein) [Inorganic ion transport and metabolism]
      pfam00258
      Location:6142
      Flavodoxin_1; Flavodoxin
    3. XM_006517179.3XP_006517242.1  methionine synthase reductase isoform X1

      See identical proteins and their annotated locations for XP_006517242.1

      UniProtKB/Swiss-Prot
      Q8C1A3
      UniProtKB/TrEMBL
      A0A0R4J0G9
      Conserved Domains (3) summary
      cd06203
      Location:275695
      methionine_synthase_red; Human methionine synthase reductase (MSR) restores methionine sythase which is responsible for the regeneration of methionine from homocysteine, as well as the coversion of methyltetrahydrofolate to tetrahydrofolate. In MSR, electrons are transferred ...
      COG0369
      Location:5695
      CysJ; Sulfite reductase, alpha subunit (flavoprotein) [Inorganic ion transport and metabolism]
      pfam00258
      Location:6142
      Flavodoxin_1; Flavodoxin
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