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

Gene ID: 238505, updated on 28-Oct-2024

Summary

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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, Oct 2024]
Expression
Ubiquitous expression in heart adult (RPKM 14.2), limb E14.5 (RPKM 5.2) and 22 other tissues See more
Orthologs
human all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data 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

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Related articles in PubMed

  1. Cognitive Impairment Is Associated with AMPAR Glutamatergic Dysfunction in a Mouse Model of Neuronal Methionine Synthase Deficiency. Hassan Z, et al. Cells, 2023 Apr 27. PMID 37174668, Free PMC Article
  2. Cerebral vascular dysfunction in methionine synthase-deficient mice. Dayal S, et al. Circulation, 2005 Aug 2. PMID 16043641
  3. Targeted disruption of the methionine synthase gene in mice. Swanson DA, et al. Mol Cell Biol, 2001 Feb. PMID 11158293, Free PMC Article
  4. Genetic and nutritional deficiencies in folate metabolism influence tumorigenicity in Apcmin/+ mice. Lawrance AK, et al. J Nutr Biochem, 2007 May. PMID 16963246
  5. Spatial and temporal expression of folate-related transporters and metabolic enzymes during mouse placental development. Cherukad J, et al. Placenta, 2012 May. PMID 22365888

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Cognitive Impairment Is Associated with AMPAR Glutamatergic Dysfunction in a Mouse Model of Neuronal Methionine Synthase Deficiency.
    Title: Cognitive Impairment Is Associated with AMPAR Glutamatergic Dysfunction in a Mouse Model of Neuronal Methionine Synthase Deficiency.
  2. Deficiency of either MS or folate produces oxidative stress and endothelial dysfunction in the cerebral microcirculation of mice.
    Title: Cerebral vascular dysfunction in methionine synthase-deficient mice.
Submit: New GeneRIF Correction

Variation

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

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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_001081128.3 → NP_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:1 → 1249
    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_006516661.4 → XP_006516724.1  methionine synthase isoform X1

    Conserved Domains (1) summary
    PRK09490
    Location:1 → 995
    metH; B12-dependent methionine synthase; Provisional

RNA

  1. XR_003950449.2 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6H5Y3.1 GenPept UniProtKB/Swiss-Prot:A6H5Y3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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