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Mtrr Gene Detail
Summary
  • Symbol
    Mtrr
  • Name
    5-methyltetrahydrofolate-homocysteine methyltransferase reductase
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891037
    NCBI Gene: 210009
Location & Maps
more
  • Sequence Map
    Chr13:68560780-68582121 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      21342 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    MTRR, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MTRR, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
    Orthology source: HomoloGene
  • Synonyms
    cblE, MSR
  • Links
    NCBI Gene ID: 4552
    neXtProt AC: NX_Q9UBK8

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

  • HomoloGene
    Vertebrate Homology Class 11419
    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
Human Diseases
more
  • Diseases
    1 with Mtrr mouse models; 2 with human MTRR associations

Human Disease Mouse Models
       Homocysteinemia   OMIM: 603174 View 1 model
       Homocystinuria-Megaloblastic Anemia, Cble Complementation Type; HMAE   OMIM: 236270
Neural Tube Defects, Folate-Sensitive; NTDFS   OMIM: 601634
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    4 phenotypes from 1 allele in 2 genetic backgrounds
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    52
  • Chemically induced (other)
    1
  • Gene trapped
    49
  • Targeted
    2
  • Genomic Mutations
    1 involving Mtrr
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    406 from dbSNP Build 137
Protein
Information
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  • UniProt
    2 Sequences
  • EC
  • InterPro Domains
    IPR003097 FAD-binding, type 1
    IPR017927 Ferredoxin reductase-type FAD-binding domain
    IPR001094 Flavodoxin-like
    IPR008254 Flavodoxin/nitric oxide synthase
    IPR029039 Flavoprotein-like domain
    IPR001709 Flavoprotein pyridine nucleotide cytochrome reductase
    IPR023173 NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3
    IPR001433 Oxidoreductase FAD/NAD(P)-binding
    IPR017938 Riboflavin synthase-like beta-barrel
Molecular
Reagents
less
  • All nucleic 8
    cDNA 6
    Primer pair 2

    Microarray probesets 2
References
more
  • Summaries
    All 33
    Developmental Gene Expression 4
    Diseases 1
    Gene Ontology 6
    Phenotypes 14
  • 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:224837 Dutchak PA, et al., Regulation of Hematopoiesis and Methionine Homeostasis by mTORC1 Inhibitor NPRL2. Cell Rep. 2015 Jul 21;12(3):371-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory