MTHFR
Summary: The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| methylenetetrahydrofolate reductase | MIM:607093 | Ensembl:ENSG00000177000 | HGNC:HGNC:7436 | PA245 | 1p36.22 |
GO terms in MTHFR
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0004489 | methylenetetrahydrofolate reductase (NAD(P)H) activity |
| MF | IDA | GO:0004489 | methylenetetrahydrofolate reductase (NAD(P)H) activity |
| MF | IGI | GO:0004489 | methylenetetrahydrofolate reductase (NAD(P)H) activity |
| MF | IMP | GO:0004489 | methylenetetrahydrofolate reductase (NAD(P)H) activity |
| MF | TAS | GO:0004489 | methylenetetrahydrofolate reductase (NAD(P)H) activity |
| MF | IPI | GO:0044877 | protein-containing complex binding |
| MF | IDA | GO:0050660 | flavin adenine dinucleotide binding |
| MF | IEA | GO:0050661 | NADP binding |
| MF | IBA | GO:0071949 | FAD binding |
| MF | IDA | GO:0072341 | modified amino acid binding |
| CC | IBA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IEA | GO:0045202 | synapse |
| BP | IEA | GO:0001666 | response to hypoxia |
| BP | TAS | GO:0006520 | cellular amino acid metabolic process |
| BP | IGI | GO:0006555 | methionine metabolic process |
| BP | IBA | GO:0006730 | one-carbon metabolic process |
| BP | TAS | GO:0008015 | blood circulation |
| BP | IBA | GO:0009086 | methionine biosynthetic process |
| BP | IDA | GO:0031060 | regulation of histone methylation |
| BP | IEA | GO:0033274 | response to vitamin B2 |
| BP | IBA | GO:0035999 | tetrahydrofolate interconversion |
| BP | IDA | GO:0035999 | tetrahydrofolate interconversion |
| BP | IEA | GO:0035999 | tetrahydrofolate interconversion |
| BP | IGI | GO:0035999 | tetrahydrofolate interconversion |
| BP | IMP | GO:0035999 | tetrahydrofolate interconversion |
| BP | IEA | GO:0043200 | response to amino acid |
| BP | IEA | GO:0046500 | S-adenosylmethionine metabolic process |
| BP | TAS | GO:0046655 | folic acid metabolic process |
| BP | IDA | GO:0050667 | homocysteine metabolic process |
| BP | IEA | GO:0051593 | response to folic acid |
| BP | IEA | GO:0055114 | oxidation-reduction process |
| BP | IEA | GO:0070555 | response to interleukin-1 |
| BP | IDA | GO:0070829 | heterochromatin maintenance |
Gene expression in normal tissue: MTHFR
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MTHFR
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-196757 | Metabolism of folate and pterines |
| reactome | R-HSA-196849 | Metabolism of water-soluble vitamins and cofactors |
| reactome | R-HSA-196854 | Metabolism of vitamins and cofactors |
| pharmgkb | PA165291507 | Fluoropyrimidine Pathway, Pharmacodynamics |
| pharmgkb | PA165291575 | Antimetabolite Pathway - Folate Cycle, Pharmacodynamics |
| pharmgkb | PA2039 | Methotrexate Pathway (Cancer Cell), Pharmacodynamics |
| pharmgkb | PA2040 | Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics |
| humancyc | PWY-2201 | folate transformations I |
| kegg | hsa00670 | One carbon pool by folate - Homo sapiens (human) |
| smpdb | SMP00033 | Methionine Metabolism |
| smpdb | SMP00053 | Folate Metabolism |
| smpdb | SMP00177 | Cystathionine Beta-Synthase Deficiency |
| smpdb | SMP00214 | S-Adenosylhomocysteine (SAH) Hydrolase Deficiency |
| smpdb | SMP00221 | Methionine Adenosyltransferase Deficiency |
| smpdb | SMP00222 | Glycine N-methyltransferase Deficiency |
| smpdb | SMP00340 | Methylenetetrahydrofolate Reductase Deficiency (MTHFRD) |
| smpdb | SMP00341 | Hypermethioninemia |
| smpdb | SMP00432 | Methotrexate Action Pathway |
| smpdb | SMP00543 | Methylenetetrahydrofolate Reductase Deficiency (MTHFRD) |
| smpdb | SMP00570 | Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblG complementation type |
| smpdb | SMP00724 | Folate malabsorption, hereditary |
| wikipathways | WP1495 | Glycine Metabolism |
| wikipathways | WP15 | Selenium Micronutrient Network |
| wikipathways | WP1533 | Vitamin B12 Metabolism |
| wikipathways | WP1589 | Folate-Alcohol and Cancer Pathway Hypotheses |
| wikipathways | WP1601 | Fluoropyrimidine Activity |
| wikipathways | WP176 | Folate Metabolism |
| wikipathways | WP2190 | One carbon donor |
| wikipathways | WP241 | One Carbon Metabolism |
| wikipathways | WP2525 | Trans-sulfuration and one carbon metabolism |
| wikipathways | WP3940 | One carbon metabolism and related pathways |
| wikipathways | WP3996 | Ethanol effects on histone modifications |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MTHFR
CLASSFICATION
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