| URN | urn:agi-llid:4524 |
|---|---|
| Connectivity | 154 |
| Name | Mthfr |
| Description | methylenetetrahydrofolate reductase (NAD(P)H) |
| Notes | 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. |
| Pathway | homocysteine metabolic pathway |
|---|---|
| folate cycle metabolic pathway | |
| folated mediated one carbon metabolic pathway |
| GO Molecular Function | oxidoreductase activity |
|---|---|
| NADP or NADPH binding | |
| FAD binding | |
| methylenetetrahydrofolate reductase (NADPH) activity |
| GO Cellular Component | soluble fraction |
|---|---|
| cytosol |
| GO Biological Process | oxidation reduction |
|---|---|
| blood circulation | |
| cellular amino acid metabolic process | |
| methionine metabolic process | |
| methionine biosynthetic process | |
| tetrahydrofolate metabolic process | |
| response to drug | |
| response to amino acid stimulus | |
| response to interleukin-1 | |
| response to vitamin B2 |
| Ariadne Ontology | Folate and pterins biosynthesis |
|---|
| Group | Folate and pterins biosynthesis |
|---|---|
| oxidation reduction | |
| blood circulation | |
| cellular amino acid metabolic process | |
| methionine metabolic process | |
| methionine biosynthetic process | |
| tetrahydrofolate metabolic process | |
| response to drug | |
| response to amino acid stimulus | |
| response to interleukin-1 | |
| response to vitamin B2 | |
| oxidoreductase activity | |
| NADP or NADPH binding | |
| FAD binding | |
| methylenetetrahydrofolate reductase (NADPH) activity | |
| soluble fraction | |
| cytosol |
| MedScan ID | 4524 |
|---|
| Hugo ID | 7436 |
|---|
| Human chromosome position | 1p36.3 |
|---|
| LocusLink ID | 4524 |
|---|---|
| 17769 | |
| 362657 |
| Alias | RP11-56N19.4 |
|---|---|
| methylenetetrahydrofolate reductase | |
| OTTHUMP00000002367 | |
| OTTHUMP00000002373 | |
| 5,10-methylenetetrahydrofolate reductase (NADPH) | |
| AI323986 | |
| RP23-139J21.2 | |
| OTTMUSP00000010830 | |
| OTTMUSP00000035697 | |
| 5,10-CH2-H4folate reductase | |
| 5,10-CH2-H4folate reductases | |
| 5,10-methylenetetrahydrofolate reductase | |
| 5,10-methylenetetrahydrofolate reductase (FADH) | |
| 5,10-methylenetetrahydrofolate reductase (FADH) activity | |
| 5,10-methylenetetrahydrofolate reductase (FADH)s | |
| 5,10-methylenetetrahydrofolate reductase (FADH2) | |
| 5,10-methylenetetrahydrofolate reductase (NAD(P)H) | |
| 5,10-methylenetetrahydrofolate reductase (NADP(H)) | |
| 5,10-methylenetetrahydrofolic acid reductase | |
| 5,10-methylenetetrahydrofolic acid reductases | |
| Methylene tetrahydrofolate reductase | |
| methylenetetrahydrofolate dehydrogenase (NAD(P)H2) | |
| methylenetetrahydrofolate dehydrogenase (NADP(H)2) | |
| methylenetetrahydrofolate dehydrogenase (NADPH2) | |
| methylenetetrahydrofolate reductase intermediate form | |
| MTHFR | |
| OTTHUMP00000002368 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 607093 |
|---|---|
| 119530 | |
| 236250 | |
| 601634 | |
| 181500 | |
| 188050 |
| Mouse chromosome position | 4 76.4 cM |
|---|
| GO ID | 0004489 |
|---|---|
| 0016491 | |
| 0008015 | |
| 0006520 | |
| 0009086 | |
| 0055114 | |
| 0005829 | |
| 0050660 | |
| 0050661 | |
| 0006555 | |
| 0046653 | |
| 0005625 | |
| 0043200 | |
| 0042493 | |
| 0070555 | |
| 0033274 |
| Rat chromosome position | 5q36 |
|---|
| Swiss-Prot Accession | P42898 |
|---|---|
| Q59GJ6 | |
| Q8IU67 | |
| Q5SNW5 | |
| Q5SNW6 | |
| Q5SNW7 | |
| Q8IU73 | |
| Q9NY62 | |
| Q9NY63 | |
| A2A7F7 | |
| Q3UDB2 | |
| Q497H7 | |
| Q8CDE4 | |
| Q3V399 | |
| Q8BHN2 | |
| Q8CJA5 | |
| Q8CJA6 | |
| Q8CJA7 | |
| Q8CJA8 | |
| Q8CJA9 | |
| Q9WU20 | |
| Q62984 | |
| B2R7A6 | |
| Q5SNW9 | |
| Q7Z6M6 | |
| Q9UQR2 |
| PIR ID | S46454 |
|---|
| Unigene ID | Hs.214142 |
|---|---|
| Mm.89959 | |
| Rn.10494 |
| KEGG ID | hsa:4524 |
|---|---|
| mmu:17769 | |
| rno:362657 |
| EC Number | 1.5.1.20 |
|---|
| Swiss-Prot ID | MTHR_HUMAN |
|---|---|
| A2A7F7_MOUSE | |
| Q3UDB2_MOUSE | |
| Q8CDE4_MOUSE | |
| Q59GJ6_HUMAN | |
| Q497H7_MOUSE | |
| Q8IU67_HUMAN | |
| Q5SNW9_HUMAN |
| Cell Localization | Mitochondria |
|---|
| IPI ID | IPI00002487 |
|---|---|
| IPI00284146 | |
| IPI00648736 | |
| IPI00646036 | |
| IPI00880754 | |
| IPI00646654 | |
| IPI00643819 | |
| IPI00642645 | |
| IPI00880907 | |
| IPI00880862 | |
| IPI00318090 | |
| IPI00894661 | |
| IPI00895457 | |
| IPI00894887 | |
| IPI00210370 | |
| IPI00388156 |
| Homologene ID | 4349 |
|---|
| RGD ID | 1309952 |
|---|
| MGI ID | 106639 |
|---|