MGP Database

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MGP001970

Ontology/Pathway Information

Entrez Gene ID4524
Gene Namemethylenetetrahydrofolate reductase (NAD(P)H)
Gene Symbol MTHFR
SpeciesHomo sapiens
Gene Ontology (GO Annotations)
GO IDSourceTypeDescription
GO:0005829 TAS:ReactomeCcytosol
GO:0043005 IEA:EnsemblCneuron projection
GO:0050660 IEA:EnsemblFflavin adenine dinucleotide binding
GO:0004489 TAS:ReactomeFmethylenetetrahydrofolate reductase (NAD(P)H) activity
GO:0072341 IDA:UniProtKBFmodified amino acid binding
GO:0050661 IEA:EnsemblFNADP binding
GO:0008015 TAS:ProtIncPblood circulation
GO:0006520 TAS:ProtIncPcellular amino acid metabolic process
GO:0046655 TAS:ReactomePfolic acid metabolic process
GO:0050667 IDA:UniProtKBPhomocysteine metabolic process
GO:0009086 IEA:EnsemblPmethionine biosynthetic process
GO:0006730 IBA:GO_CentralPone-carbon metabolic process
GO:0042493 IEA:EnsemblPresponse to drug
GO:0051593 IEA:EnsemblPresponse to folic acid
GO:0001666 IEA:EnsemblPresponse to hypoxia
GO:0070555 IEA:EnsemblPresponse to interleukin-1
GO:0033274 IEA:EnsemblPresponse to vitamin B2
GO:0046500 IEA:EnsemblPS-adenosylmethionine metabolic process
GO:0044281 TAS:ReactomePsmall molecule metabolic process
GO:0035999 IEA:UniProtKB-UniPathwayPtetrahydrofolate interconversion
GO:0006766 TAS:ReactomePvitamin metabolic process
GO:0006767 TAS:ReactomePwater-soluble vitamin metabolic process
REACTOME Pathway Links
REACTOME Pathway IDDescription
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_169415Defective GIF causes intrinsic factor deficiency
REACT_169312Defective HLCS causes multiple carboxylase deficiency
REACT_169363Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF
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_169120Defective TCN2 causes hereditary megaloblastic anemia
REACT_169238Defects in biotin (Btn) metabolism
REACT_169429Defects in cobalamin (B12) metabolism
REACT_169385Defects in vitamin and cofactor metabolism
REACT_116125Disease
REACT_111217Metabolism
REACT_11167Metabolism of folate and pterines
REACT_11193Metabolism of vitamins and cofactors
REACT_11238Metabolism of water-soluble vitamins and cofactors
SMP Pathway Links
SMP IDDescription
SMP00177Cystathionine Beta-Synthase Deficiency
SMP00724Folate malabsorption, hereditary
SMP00053Folate Metabolism
SMP00222Glycine N-methyltransferase Deficiency
SMP00543Homocystinuria due to defect of N(5,10)-methylene THF deficiency
SMP00570Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblG complementation type
SMP00341Hypermethioninemia
SMP00221Methionine Adenosyltransferase Deficiency
SMP00033Methionine Metabolism
SMP00432Methotrexate Action Pathway
SMP00340Methylenetetrahydrofolate Reductase Deficiency (MTHFRD)
SMP00214S-Adenosylhomocysteine (SAH) Hydrolase Deficiency
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