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Mtrr
Gene Detail
Symbol

Name
ID
Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MGI:1891037
Feature Type
protein coding gene
Genetic Map
Chromosome 13
35.54 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr13:68560780-68582121 bp, - strand
From NCBI annotation of GRCm38

  21342 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:11419  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: MTRR
Gene Tree: Mtrr

Human
homologs
MTRR, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 4552
neXtProt AC: NX_Q9UBK8

Human Synonyms: cblE, MSR

Human Chr (Location): 5p15.31; chr5:7851186-7901124 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human MTRR

Mutations,
alleles, and
phenotypes
All mutations/alleles(51) : Gene trapped(49) Targeted(2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for a hypomorphic gene trap allele are viable and display a male-specific reduction in postnatal weight gain as well as hyperhomocysteinemia, hypomethionemia, increased tissue methyltetrahydrofolate, and AdoMet/AdoHcy ratios that range from high to slightly below normal.
 
Human Diseases Modeled in Mice Using Mtrr (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Mtrr interacts with 223 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (34 annotations)
Process cellular amino acid biosynthetic process, DNA methylation, ...
Component cytoplasm, cytosol, ...
Function aquacobalamin reductase activity, aquacobalamin reductase (NADPH) activity, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (59)    Tissues (21)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 3
In situ reporter (knock in) 16
Western blot 8
RT-PCR 32
cDNA source data(6)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase mtrr    NEW 
Molecular
reagents
All nucleic(8) cDNA(6) Primer pair(2)
Microarray probesets(2)
Other database
links
Ensembl Gene Model ENSMUSG00000034617 (Evidence)
Entrez Gene 210009 (Evidence)
DFCI TC1579872, TC1605073
DoTS DT.103589113, DT.110961337, DT.40153163
NIA Mouse Gene Index U034932
EC 1.16.1.8
Consensus CDS Project CCDS26620.1
International Mouse Phenotyping Consortium Status Mtrr
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 210009 NCBI Gene Model | MGI Sequence Detail 21342 C57BL/6J ±  kb
transcript NM_001308475 RefSeq | MGI Sequence Detail 4444 C57BL/6 
polypeptide Q8C1A3 UniProt | EBI | MGI Sequence Detail 696 Not Applicable 

For the selected sequences
All sequences(31) RefSeq(11) UniProt(1)
Polymorphisms
SNPs within 2kb(400 from dbSNP Build 137)    SNPs within 2kb including multiple locations(422)
Protein-related
information
ResourceIDDescription
InterPro IPR003097 FAD-binding, type 1
InterPro IPR017927 Ferredoxin reductase-type FAD-binding domain
InterPro IPR001094 Flavodoxin
InterPro IPR008254 Flavodoxin/nitric oxide synthase
InterPro IPR001709 Flavoprotein pyridine nucleotide cytochrome reductase
InterPro IPR023173 NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3
InterPro IPR001433 Oxidoreductase FAD/NAD(P)-binding
InterPro IPR017938 Riboflavin synthase-like beta-barrel
Protein Ontology PR:000010750 methionine synthase reductase
Graphical View of Protein Domain Structure
References
(Earliest) J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
(Latest) J:215266 Jadavji NM, et al., Mouse model for deficiency of methionine synthase reductase exhibits short-term memory impairment and disturbances in brain choline metabolism. Biochem J. 2014 Jul 15;461(2):205-12
All references(37)
Disease annotation references (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory