Format

Send to:

Choose Destination

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

Gene ID: 210009, updated on 23-Jun-2021

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Mtrr in Genome Data Viewer
Location:
13 B3; 13 35.54 cM
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (68708899..68730288, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 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_000079.7Genomic Context describing neighboring genes Neighboring gene predicted gene 8016 Neighboring gene predicted gene, 46386 Neighboring gene VISTA enhancer mm1330 Neighboring gene RIKEN cDNA 1700001L19 gene Neighboring gene FAST kinase domains 3 Neighboring gene predicted gene, 34903 Neighboring gene adenylate cyclase 2 Neighboring gene farnesyl diphosphate synthetase pseudogene

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 Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables FAD binding ISO
Inferred from Sequence Orthology
more info
 
enables FMN binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables FMN binding ISO
Inferred from Sequence Orthology
more info
 
enables NADPH binding ISO
Inferred from Sequence Orthology
more info
 
enables NADPH-hemoprotein reductase activity ISO
Inferred from Sequence Orthology
more info
 
enables [methionine synthase] reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables [methionine synthase] reductase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables [methionine synthase] reductase activity ISO
Inferred from Sequence Orthology
more info
 
enables flavin adenine dinucleotide binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables flavin adenine dinucleotide binding ISO
Inferred from Sequence Orthology
more info
 
enables oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables oxidoreductase activity, acting on metal ions, NAD or NADP as acceptor ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in intermediate filament cytoskeleton ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
methionine synthase reductase
Names
aqCbl reductase
aquacobalamin reductase
NP_001295404.1
NP_766068.1
XP_006517242.1
XP_006517244.1
XP_006517245.1
XP_036013852.1

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_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
    ENSMUSP00000152387.2, ENSMUST00000223398.2
    Conserved Domains (2) 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 ...
    pfam00258
    Location:6142
    Flavodoxin_1
  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
    ENSMUSP00000039810.5, ENSMUST00000045827.5
    Conserved Domains (2) 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 ...
    pfam00258
    Location:6142
    Flavodoxin_1

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
    ENSMUST00000223101.2

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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
    68708899..68730288 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036157959.1XP_036013852.1  methionine synthase reductase isoform X1

    Conserved Domains (2) 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 ...
    pfam00258
    Location:6142
    Flavodoxin_1
  2. XM_006517181.4XP_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 (2) 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 ...
    pfam00258
    Location:6142
    Flavodoxin_1
  3. XM_006517179.4XP_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 (2) 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 ...
    pfam00258
    Location:6142
    Flavodoxin_1
  4. 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 (2) 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 ...
    pfam00258
    Location:6142
    Flavodoxin_1
Support Center