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Mtr Gene Detail
Summary
  • Symbol
    Mtr
  • Name
    5-methyltetrahydrofolate-homocysteine methyltransferase
  • Synonyms
    D830038K18Rik, methionine synthase, MS
  • Feature Type
    protein coding gene
  • IDs
    MGI:894292
    NCBI Gene: 238505
Location & Maps
more
  • Sequence Map
    Chr13:12186542-12258113 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      71572 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    MTR, 5-methyltetrahydrofolate-homocysteine methyltransferase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MTR, 5-methyltetrahydrofolate-homocysteine methyltransferase
    Orthology source: HomoloGene
  • Synonyms
    cblG, HMAG, MS
  • Links
    NCBI Gene ID: 4548
    neXtProt AC: NX_Q99707

  • Chr Location
    1q43; chr1:236794304-236903981 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human MTR associations

Human Disease Mouse Models
       Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type; HMAG   OMIM: 250940
Neural Tube Defects, Folate-Sensitive; NTDFS   OMIM: 601634
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotypes from 1 allele in 2 genetic backgrounds
    9 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.
Mice homozygous for a targeted null mutation exhibit embryonic lethality prior to E9.5. Heterozygous appear mostly similar to conrtols, except that they exhibit elevated plasma methionine and homocysteine levels.
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 ENSMUSG00000021311 Ensembl Gene Model | MGI Sequence Detail 71572 C57BL/6J ±  kb
transcript ENSMUST00000099856 Ensembl | MGI Sequence Detail 4482 Not Applicable  
polypeptide ENSMUSP00000097442 Ensembl | MGI Sequence Detail 1253 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    489 from dbSNP Build 137
  • RFLP
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000010747 methionine synthase
  • EC
  • InterPro Domains
    IPR011822 Cobalamin-dependent methionine synthase
    IPR006158 Cobalamin (vitamin B12)-binding domain
    IPR003759 Cobalamin (vitamin B12)-binding module, cap domain
    IPR011005 Dihydropteroate synthase-like
    IPR003726 Homocysteine-binding domain
    IPR000489 Pterin-binding domain
    IPR004223 Vitamin B12-dependent methionine synthase, activation domain
Molecular
Reagents
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  • All nucleic 31
    cDNA 28
    Primer pair 3

    Microarray probesets 5
Other
Accession IDs
less
MGI:2139114
References
more
  • Summaries
    All 40
    Developmental Gene Expression 6
    Gene Ontology 5
    Phenotypes 9
  • Earliest
    J:39061 Zhang ZX, et al., The methionine synthase (Mtr) gene maps to proximal mouse chromosome 13. Mamm Genome. 1997 Oct;8(10):787-8
  • 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
Citing These Resources
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory