| URN | urn:agi-llid:4524 |
|---|---|
| Total Entities | 0 |
| Connectivity | 1061 |
| 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. |
| GO Molecular Function | oxidoreductase activity |
|---|---|
| methylenetetrahydrofolate reductase (NAD(P)H) activity | |
| catalytic activity | |
| flavin adenine dinucleotide binding | |
| NADP binding | |
| modified amino acid binding |
| GO Cellular Component | cytosol |
|---|---|
| neuron projection |
| GO Biological Process | metabolic process |
|---|---|
| small molecule metabolic process | |
| oxidation-reduction process | |
| methionine biosynthetic process | |
| vitamin metabolic process | |
| cellular amino acid metabolic process | |
| homocysteine metabolic process | |
| S-adenosylmethionine metabolic process | |
| tetrahydrofolate metabolic process | |
| folic acid metabolic process | |
| tetrahydrofolate interconversion | |
| methionine metabolic process | |
| water-soluble vitamin metabolic process | |
| blood circulation | |
| response to drug | |
| response to amino acid | |
| response to folic acid | |
| response to vitamin B2 | |
| response to interleukin-1 | |
| response to hypoxia |
| Pathway | Proteins Involved in Pathogenesis of Amyotrophic Lateral Sclerosis |
|---|---|
| Proteins Involved in Pathogenesis of Myocardial Ischemia | |
| homocysteine metabolic pathway |
| Group | Folate and pterins biosynthesis |
|---|---|
| metabolic process | |
| small molecule metabolic process | |
| oxidation-reduction process | |
| methionine biosynthetic process | |
| oxidoreductase activity | |
| methylenetetrahydrofolate reductase (NAD(P)H) activity | |
| vitamin metabolic process | |
| cellular amino acid metabolic process | |
| homocysteine metabolic process | |
| S-adenosylmethionine metabolic process | |
| tetrahydrofolate metabolic process | |
| folic acid metabolic process | |
| tetrahydrofolate interconversion | |
| methionine metabolic process | |
| water-soluble vitamin metabolic process | |
| blood circulation | |
| response to drug | |
| response to amino acid | |
| response to folic acid | |
| response to vitamin B2 | |
| response to interleukin-1 | |
| response to hypoxia | |
| catalytic activity | |
| flavin adenine dinucleotide binding | |
| NADP binding | |
| modified amino acid binding | |
| cytosol | |
| neuron projection | |
| Proteins Involved in Pathogenesis of Mental Retardation Caused by Hypothyroidism | |
| Genes Associated with Systemic Lupus Erythematosus | |
| Proteins Involved in Pathogenesis of Li-Fraumeni Syndrome | |
| Genes with Mutations Associated with Atherosclerosis | |
| Biofluids assayable substances |
| LocusLink ID | 4524 |
|---|---|
| 17769 | |
| 362657 |
| Cell Localization | Mitochondria |
|---|
| GO ID | 0004489 |
|---|---|
| 0072341 | |
| 0008015 | |
| 0006520 | |
| 0046655 | |
| 0050667 | |
| 0009086 | |
| 0044281 | |
| 0035999 | |
| 0006766 | |
| 0006767 | |
| 0005829 | |
| 0050661 | |
| 0003824 | |
| 0050660 | |
| 0016491 | |
| 0008152 | |
| 0006555 | |
| 0055114 | |
| 0046653 | |
| 0043005 | |
| 0046500 | |
| 0043200 | |
| 0042493 | |
| 0051593 | |
| 0001666 | |
| 0070555 | |
| 0033274 | |
| 0005625 |
| Alias | RP11-56N19.4 |
|---|---|
| methylenetetrahydrofolate reductase | |
| 5,10-methylenetetrahydrofolate reductase (NADPH) | |
| AI323986 | |
| RP23-139J21.2 | |
| methylenetetrahydrofolate dehydrogenase (NADPH2) | |
| methylenetetrahydrofolate reductase intermediate form | |
| MTHFR | |
| OTTHUMP00000002367 | |
| OTTHUMP00000002368 | |
| OTTHUMP00000002373 | |
| OTTMUSP00000035697 | |
| methylenetetrahydrofolate reductase (NAD(P)H) | |
| 5,10-methylenetetrahydrofolate reductase (NAD(P)H) | |
| methylenetetrahydrofolate dehydrogenase (NADP(H)2) | |
| OTTMUSP00000010830 | |
| 5,10-methylenetetrahydrofolate reductase (FADH) | |
| methylenetetrahydrofolate dehydrogenase (NAD(P)H2) | |
| 5,10-methylenetetrahydrofolate reductase | |
| 5,10-methylenetetrahydrofolate reductase (FADH) activity | |
| 5,10-methylenetetrahydrofolate reductase (FADH)s | |
| 5,10-methylenetetrahydrofolate reductase (FADH2) | |
| 5,10-methylenetetrahydrofolate reductase (NADP(H)) | |
| 5,10-CH2-H4folate reductase | |
| 5,10-methylenetetrahydrofolic acid reductase | |
| 5,10-methylenetetrahydrofolic acid reductases | |
| Methylene tetrahydrofolate reductase | |
| 5,10-CH2-H4folate reductases |
| Mouse chromosome position | 4 78.67 cM |
|---|---|
| 4 76.4 cM |
| OMIM ID | 607093 |
|---|---|
| 236250 | |
| 601634 | |
| 181500 | |
| 188050 | |
| 119530 |
| Rat chromosome position | 5q36 |
|---|
| Hugo ID | 7436 |
|---|
| Human chromosome position | 1p36.3 |
|---|
| Swiss-Prot Accession | P42898 |
|---|---|
| Q59GJ6 | |
| Q8IU67 | |
| Q5SNW6 | |
| A2A7F7 | |
| Q3UDB2 | |
| Q497H7 | |
| Q9WU20 | |
| D4A7E8 | |
| B2R7A6 | |
| Q5SNW9 | |
| Q7Z6M6 | |
| Q8IU73 | |
| Q9UQR2 | |
| Q8CDE4 | |
| Q5SNW5 | |
| Q5SNW7 | |
| Q9NY62 | |
| Q9NY63 | |
| Q3V399 | |
| Q8BHN2 | |
| Q8CJA5 | |
| Q8CJA6 | |
| Q8CJA7 | |
| Q8CJA8 | |
| Q8CJA9 | |
| Q62984 |
| PIR ID | S46454 |
|---|
| Unigene ID | Hs.214142 |
|---|---|
| Hs.737916 | |
| Mm.89959 | |
| Rn.10494 |
| KEGG ID | hsa:4524 |
|---|---|
| mmu:17769 | |
| rno:362657 |
| Swiss-Prot ID | MTHR_HUMAN |
|---|---|
| MTHR_MOUSE | |
| A2A7F7_MOUSE | |
| Q3UDB2_MOUSE | |
| Q8CDE4_MOUSE | |
| Q59GJ6_HUMAN | |
| Q497H7_MOUSE | |
| Q8IU67_HUMAN | |
| Q5SNW9_HUMAN |
| EC Number | 1.5.1.20 |
|---|
| Ensembl ID | ENSG00000177000 |
|---|---|
| ENSP00000365775 | |
| ENST00000376590 | |
| ENSMUSG00000029009 | |
| ENSMUSP00000069774 | |
| ENSMUST00000069604 |
| Homologene ID | 4349 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 106639 |
|---|
| RGD ID | 1309952 |
|---|
| MedScan ID | 4524 |
|---|
| IPI ID | IPI00002487 |
|---|---|
| IPI00284146 | |
| IPI00648736 | |
| IPI00646036 | |
| IPI00880754 | |
| IPI00646654 | |
| IPI00643819 | |
| IPI00642645 | |
| IPI00880907 | |
| IPI00880862 | |
| IPI00318090 | |
| IPI00894661 | |
| IPI00895457 | |
| IPI00894887 | |
| IPI00210370 | |
| IPI00388156 |