MGP Database

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MGP001969

Ontology/Pathway Information

Entrez Gene ID4522
Gene Namemethylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
Gene Symbol MTHFD1
SpeciesHomo sapiens
Gene Ontology (GO Annotations)
GO IDSourceTypeDescription
GO:0005829 IBA:GO_CentralCcytosol
GO:0070062 IDA:UniProtKBCextracellular vesicular exosome
GO:0016020 IDA:UniProtKBCmembrane
GO:0005739 TAS:ProtIncCmitochondrion
GO:0005524 IEA:UniProtKB-KWFATP binding
GO:0004329 IBA:GO_CentralFformate-tetrahydrofolate ligase activity
GO:0004477 IBA:GO_CentralFmethenyltetrahydrofolate cyclohydrolase activity
GO:0004488 IBA:GO_CentralFmethylenetetrahydrofolate dehydrogenase (NADP+) activity
GO:0004486 TAS:ReactomeFmethylenetetrahydrofolate dehydrogenase [NAD(P)+] activity
GO:0009396 IEA:InterProPfolic acid-containing compound biosynthetic process
GO:0046655 TAS:ReactomePfolic acid metabolic process
GO:0000105 IEA:UniProtKB-KWPhistidine biosynthetic process
GO:0009086 IEA:UniProtKB-KWPmethionine biosynthetic process
GO:0006730 IBA:GO_CentralPone-carbon metabolic process
GO:0006164 IEA:UniProtKB-KWPpurine nucleotide biosynthetic 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
SMP00724Folate malabsorption, hereditary
SMP00053Folate Metabolism
SMP00543Homocystinuria due to defect of N(5,10)-methylene THF deficiency
SMP00432Methotrexate Action Pathway
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