Search results:
General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| MTHFR | 4524 | methylenetetrahydrofolate reductase (NAD(P)H) | 1 | - |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 26046315 | 2015 | Cell line : - Source : CHA Bundang Medical Center, Seongnam, South Korea Sample Type : Population based case control study No. of Sample : 850 control and 450 CRC Stage : - | Genotyping,PCR-RFLP, TaqMan allelic discrimination assay | Polymorhpism | - | - |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | - |
| Description | 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] | Chromosome | 1 |
| Location | 1p36.3 |
| Start | 11845787 |
| End | 11866160 |
| Strand | - |
| Gene Sequence | Download Select all |
| Length | 20374 |
| OMIM ID | 607093 |
| HGNC ID | HGNC:7436 |
| Unigene ID | Hs.214142 |
| Ensembl ID | ENSG00000177000 |
| PharmGKB ID | PA245 |
mRNA Information
| mRNA ID | XM_011541272.1 |
|---|---|
| Exon | complement(join(<16519..16834,17358..17452,17726..17955, 18057..18231,18611..18716)) | mRNA Sequence | Download Select all |
| Length | 4773 |
Protein Information
| Protein ID | XP_011539574.1 |
|---|---|
| Protein Name | methylenetetrahydrofolate reductase (NAD(P)H) |
| Molecular Wt. (Da) | 133697 |
| Protein Sequence | Download Select all |
| Length | 1494 |
| Uniprot ID | Q99816 |
| Ensembl Protein ID | ENSP00000251968 |
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| T | Phosphorylation | 34 |
| S | Phosphorylation | 33 |
| S | Phosphorylation | 30 |
| S | Phosphorylation | 29 |
| S | Phosphorylation | 26 |
| S | Phosphorylation | 21 |
| S | Phosphorylation | 20 |
| S | Phosphorylation | 18 |
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
No matching records from HPRD source could be found.
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Carbon metabolism | hsa01200 |
| Metabolic pathways | hsa01100 |
| One carbon pool by folate | hsa00670 |
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| cd00537 | 60-336 | MTHFR |
| cl00246 | 60-336 | MTHFR superfamily |
| PLN02540 | 60-626 | PLN02540 |
| TIGR00677 | 59-342 | fadh2_euk |
| pfam02219 | 49-337 | MTHFR |
| TIGR00676 | 60-337 | fadh2 |
| COG0685 | 50-339 | MetF |
| PRK09432 | 61-337 | metF |
| PRK05718 | 212-256 | PRK05718 |
| cl21457 | 212-256 | TIM_phosphate_binding superfamily |
| PRK08645 | 108-336 | PRK08645 |
Ontology Information
| HPRD ID | 1787 |
|---|---|
| Molecular Class | Enzyme: Oxidoreductase |
| Molecular Function | Structural molecule activity (GO:0005198); Kinase activity (GO:0016301) |
| Biological Process | Transport (GO:0006810); Muscle development (GO:0007517) |
Drug Information
| Uniprot ID | DrugBank ID | Name | Type |
|---|---|---|---|
| P42898 | DB00134 | L-Methionine | SmallMoleculeDrug |
| P42898 | DB00140 | Riboflavin | SmallMoleculeDrug |
| P42898 | DB00158 | Folic Acid | SmallMoleculeDrug |
| P42898 | DB00170 | Menadione | SmallMoleculeDrug |
| P42898 | DB00542 | Benazepril | SmallMoleculeDrug |
| P42898 | DB00544 | Fluorouracil | SmallMoleculeDrug |
| P42898 | DB00563 | Methotrexate | SmallMoleculeDrug |
| P42898 | DB00115 | Cyanocobalamin | SmallMoleculeDrug |
| P42898 | DB00116 | Tetrahydrofolic acid | SmallMoleculeDrug |
| P42898 | DB00116 | Tetrahydrofolic acid | SmallMoleculeDrug |