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FLASH GENE
Symbol MTR contributors: mct/pgu - updated : 15-05-2013
HGNC name 5-methyltetrahydrofolate-homocysteine methyltransferase
HGNC id 7468
Corresponding disease
MTR methylmalonic acidemia and homocystinuria, megaloblastic anemia with/without the cblG (methylcobalamin) variant
Location 1q43      Physical location : 236.958.580 - 237.067.280
Synonym name methionine synthase
Synonym symbol(s) METS, CBLG
EC.number 2.1.1.13
DNA
TYPE functioning gene
STRUCTURE 108.71 kb     33 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned   linked   status confirmed
Physical map
LOC284527 1q42.3 hypothetical gene supported by BC016972 TOMM20 1q42 hypothetical gene supported by BC016972 KIAA0117 1q42.3 KIAA0117 protein RBP1L1 1q42.1-q43 retinoblastoma binding protein 1-like 1 GGPS1 1q43 geranylgeranyl diphosphate synthase 1 TBCE 1q42.3 tubulin-specific chaperone e MGC39558 1q42.3 hypothetical protein MGC39558 GNG4 1q42.3 guanine nucleotide binding protein (G protein), gamma 4 CHS1 1q42.1-q42.2 Chediak-Higashi syndrome 1 NID 1q43 nidogen (enactin) LOC343508 1q42.3 similar to aconitase 2 TM7SF1 1q42-q43 transmembrane 7 superfamily member 1 (upregulated in kidney) ERO1LB 1q42.2-q43 ERO1-like beta (S. cerevisiae) EDARADD 1q42.3 EDAR-associated death domain ENO1P 1q41-q42 enolase 1, (alpha) pseudogene LGALS8 1q42-q43 lectin, galactoside-binding, soluble, 8 (galectin 8) FLJ10359 1q42.3 protein BAP28 ACTN2 1q42-q43 actinin, alpha 2 MTR 1q43 5-methyltetrahydrofolate-homocysteine methyltransferase LOC388754 1 similar to 60S ribosomal protein L35 RYR2 1q42.1-q43 ryanodine receptor 2 (cardiac) ZP4 1q43 zona pellucida glycoprotein 4 LOC391178 1 hypothetical gene supported by AL122093 LOC391179 1 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
33 - 10558 - 1265 - 2006 16769880
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Endocrineadrenal gland   highly
 parathyroid   highly
Hearing/Equilibriumear   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytosolic
basic FUNCTION
  • catalyses the final step in methionine biosynthesis
  • catalyzing the production of tetrahydrofolate and methionine
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , nervous system
    PATHWAY
    metabolism
    signaling
    sulfur
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction of MTR with MMACHC that may play a role in the regulation of the cellular processing of Cbls that is required for Cbl cofactor synthesis
  • cell & other
    REGULATION
    Other methylcobolamin dependent
    ASSOCIATED DISORDERS
    corresponding disease(s) MTR
    Susceptibility
  • no evidence of association with neural tube defects (NTD) in Netherlands and U.K, may be slightly increasing the susceptibility associated with MTHFR polymorphism
  • susceptibility to non-syndromic cleft lip and palate
  • to abdominal aortic aneurysm
  • to coronary artery disease (CAD)
  • to hearing impairment in middle-aged and elderly Japanese
  • to recurrent pregnancy loss (RPL)
  • Variant & Polymorphism SNP
  • 2756A>C
  • 2756AG or GG increasing the risk of non-syndromic cleft lip and palate
  • G allele in MTR A2756G increasing the risk of coronary artery disease (CAD)
  • Candidate gene
  • MTR A2756G polymorphism is a candidate gene polymorphism for cancer susceptibility regardless of environmental factors
  • MTR 2756AA polymorphism was associated with RPL
  • Marker
    Therapy target
    ANIMAL & CELL MODELS