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

    Gene ID: 238505, updated on 27-Nov-2024

    Summary

    Official Symbol
    Mtrprovided by MGI
    Official Full Name
    5-methyltetrahydrofolate-homocysteine methyltransferaseprovided by MGI
    Primary source
    MGI:MGI:894292
    See related
    Ensembl:ENSMUSG00000021311 AllianceGenome:MGI:894292
    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
    MS; D830038K18Rik
    Summary
    Enables methionine synthase activity. Involved in cobalamin metabolic process. Acts upstream of or within methionine biosynthetic process. Predicted to be active in cytosol. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in several diseases, including IgA glomerulonephritis; artery disease (multiple); autistic disorder; hematologic cancer (multiple); and hyperhomocysteinemia. Orthologous to human MTR (5-methyltetrahydrofolate-homocysteine methyltransferase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in heart adult (RPKM 14.2), limb E14.5 (RPKM 5.2) and 22 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Mtr in Genome Data Viewer
    Location:
    13 A1; 13 4.52 cM
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (12196217..12273090, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (12181331..12258199, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene ryanodine receptor 2, cardiac Neighboring gene STARR-seq mESC enhancer starr_33653 Neighboring gene STARR-seq mESC enhancer starr_33654 Neighboring gene STARR-seq mESC enhancer starr_33656 Neighboring gene STARR-seq mESC enhancer starr_33658 Neighboring gene STARR-seq mESC enhancer starr_33659 Neighboring gene STARR-seq mESC enhancer starr_33660 Neighboring gene STARR-seq mESC enhancer starr_33661 Neighboring gene STARR-seq mESC enhancer starr_33662 Neighboring gene STARR-positive B cell enhancer mm9_chr13:12302569-12302869 Neighboring gene ribosomal protein S7 pseudogene Neighboring gene predicted gene 10336 Neighboring gene STARR-positive B cell enhancer ABC_E7201 Neighboring gene STARR-seq mESC enhancer starr_33665 Neighboring gene STARR-seq mESC enhancer starr_33666 Neighboring gene actinin alpha 2 Neighboring gene predicted gene, 40667 Neighboring gene predicted gene 5445

    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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2)  1 citation

    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 amino acid binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables cobalamin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables folic acid binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables methionine synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables methionine synthase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables methionine synthase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables methyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in axon regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in axon regeneration ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to nitric oxide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to nitric oxide ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cobalamin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cobalamin metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in homocysteine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in homocysteine metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in methionine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within methionine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 methylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pteridine-containing compound metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to axon injury ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in tetrahydrofolate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in tetrahydrofolate metabolic process 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
    methionine synthase
    Names
    cobalamin-dependent methionine synthase
    vitamin-B12 dependent methionine synthase
    NP_001074597.1
    XP_006516724.1

    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_001081128.3NP_001074597.1  methionine synthase

      See identical proteins and their annotated locations for NP_001074597.1

      Status: VALIDATED

      Source sequence(s)
      AI894170, BB630813, BC145683
      Consensus CDS
      CCDS36591.1
      UniProtKB/Swiss-Prot
      A6H5Y3, Q3UQP2
      Related
      ENSMUSP00000097442.5, ENSMUST00000099856.6
      Conserved Domains (1) summary
      PRK09490
      Location:11249
      metH; B12-dependent methionine synthase; Provisional

    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_000079.7 Reference GRCm39 C57BL/6J

      Range
      12196217..12273090 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006516661.4XP_006516724.1  methionine synthase isoform X1

      Conserved Domains (1) summary
      PRK09490
      Location:1995
      metH; B12-dependent methionine synthase; Provisional

    RNA

    1. XR_003950449.2 RNA Sequence