MGP Database

MGP001976

Ontology/Pathway Information

Entrez Gene ID4548
Gene Name5-methyltetrahydrofolate-homocysteine methyltransferase
Gene Symbol MTR
SpeciesHomo sapiens
Gene Ontology (GO Annotations)
GO IDSourceTypeDescription
GO:0005737 IDA:HPACcytoplasm
GO:0005829 TAS:ReactomeCcytosol
GO:0031419 IEA:InterProFcobalamin binding
GO:0008705 IEA:InterProFmethionine synthase activity
GO:0008898 IEA:InterProFS-adenosylmethionine-homocysteine S-methyltransferase activity
GO:0008270 IEA:InterProFzinc ion binding
GO:0034641 TAS:ReactomePcellular nitrogen compound metabolic process
GO:0009235 TAS:ReactomePcobalamin metabolic process
GO:0032259 TAS:ReactomePmethylation
GO:0007399 TAS:ProtIncPnervous system development
GO:0042558 IEA:InterProPpteridine-containing compound metabolic process
GO:0044281 TAS:ReactomePsmall molecule metabolic process
GO:0000096 TAS:ReactomePsulfur amino acid metabolic process
GO:0006766 TAS:ReactomePvitamin metabolic process
GO:0006767 TAS:ReactomePwater-soluble vitamin metabolic process
GO:0006805 TAS:ReactomePxenobiotic metabolic process
REACTOME Pathway Links
REACTOME Pathway IDDescription
REACT_13433Biological oxidations
REACT_163862Cobalamin (Cbl, vitamin B12) transport and metabolism
REACT_268587Defective AHCY causes Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD)
REACT_169280Defective AMN causes hereditary megaloblastic anemia 1
REACT_169403Defective BTD causes biotidinase deficiency
REACT_169178Defective CD320 causes methylmalonic aciduria
REACT_169132Defective CUBN causes hereditary megaloblastic anemia 1
REACT_268321Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD)
REACT_268129Defective GGT1 causes Glutathionuria (GLUTH)
REACT_169415Defective GIF causes intrinsic factor deficiency
REACT_267887Defective GSS causes Glutathione synthetase deficiency (GSS deficiency)
REACT_169312Defective HLCS causes multiple carboxylase deficiency
REACT_169363Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF
REACT_268063Defective MAT1A causes Methionine adenosyltransferase deficiency (MATD)
REACT_169316Defective MMAA causes methylmalonic aciduria type cblA
REACT_169318Defective MMAB causes methylmalonic aciduria type cblB
REACT_169169Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC
REACT_169256Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD
REACT_169149Defective MTR causes methylmalonic aciduria and homocystinuria type cblG
REACT_169439Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE
REACT_169313Defective MUT causes methylmalonic aciduria mut type
REACT_268256Defective OPLAH causes 5-oxoprolinase deficiency (OPLAHD)
REACT_267818Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD)
REACT_169120Defective TCN2 causes hereditary megaloblastic anemia
REACT_268027Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency)
REACT_268058Defective UGT1A1 causes hyperbilirubinemia
REACT_268618Defective UGT1A4 causes hyperbilirubinemia
REACT_169238Defects in biotin (Btn) metabolism
REACT_169429Defects in cobalamin (B12) metabolism
REACT_169385Defects in vitamin and cofactor metabolism
REACT_116125Disease
REACT_267615Metabolic disorders of biological oxidation enzymes
REACT_111217Metabolism
REACT_13Metabolism of amino acids and derivatives
REACT_11193Metabolism of vitamins and cofactors
REACT_11238Metabolism of water-soluble vitamins and cofactors
REACT_6946Methylation
REACT_6959Phase II conjugation
REACT_115639Sulfur amino acid metabolism
SMP Pathway Links
SMP IDDescription
SMP00123Betaine Metabolism
SMP00177Cystathionine Beta-Synthase Deficiency
SMP00222Glycine N-methyltransferase Deficiency
SMP00570Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblG complementation type
SMP00341Hypermethioninemia
SMP00221Methionine Adenosyltransferase Deficiency
SMP00033Methionine Metabolism
SMP00340Methylenetetrahydrofolate Reductase Deficiency (MTHFRD)
SMP00214S-Adenosylhomocysteine (SAH) Hydrolase Deficiency
  logo