Bos taurus Gene: MTHFR | |||||||||||
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Summary | |||||||||||
InnateDB Gene | IDBG-632648.2 | ||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||
Gene Symbol | MTHFR | ||||||||||
Gene Name | methylenetetrahydrofolate reductase | ||||||||||
Synonyms | |||||||||||
Species | Bos taurus | ||||||||||
Ensembl Gene | ENSBTAG00000020698 | ||||||||||
Encoded Proteins |
methylenetetrahydrofolate reductase
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Protein Structure | |||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||
Entrez Gene | |||||||||||
Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000177000:
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] |
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Gene Information | |||||||||||
Type | Protein coding | ||||||||||
Genomic Location | Chromosome 16:42750520-42765210 | ||||||||||
Strand | Forward strand | ||||||||||
Band | |||||||||||
Transcripts |
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Interactions | |||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||
Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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Pathway Predictions based on Human Orthology Data | |||||||||||
NETPATH | |||||||||||
REACTOME |
Metabolism of folate and pterines pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Disease pathway
Metabolism pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective GIF causes intrinsic factor deficiency pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective CD320 causes methylmalonic aciduria pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Metabolism of vitamins and cofactors pathway
Metabolism of folate and pterines pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defects in vitamin and cofactor metabolism pathway
Defects in cobalamin (B12) metabolism pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Defective HLCS causes multiple carboxylase deficiency pathway
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KEGG |
One carbon pool by folate pathway
One carbon pool by folate pathway
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INOH |
Folate metabolism pathway
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PID NCI | |||||||||||
Cross-References | |||||||||||
SwissProt | |||||||||||
TrEMBL | D2KPD5 D2KQI7 F1MF22 | ||||||||||
UniProt Splice Variant | |||||||||||
Entrez Gene | 497032 | ||||||||||
UniGene | Bt.26830 | ||||||||||
RefSeq | NM_001011685 XM_005216932 XM_005216933 XM_005216934 | ||||||||||
HUGO | |||||||||||
OMIM | |||||||||||
CCDS | |||||||||||
HPRD | |||||||||||
IMGT | |||||||||||
EMBL | DAAA02042958 GU247116 GU247117 GU247118 GU247119 GU247120 GU247121 GU247122 GU247123 GU247124 GU247125 GU247126 GU256939 | ||||||||||
GenPept | ADA77500 ADA77501 ADA77502 ADA77503 ADA77504 ADA77505 ADA77506 ADA77507 ADA77508 ADA77509 ADA77510 ADA77511 | ||||||||||
RNA Seq Atlas | 497032 | ||||||||||