Version 5.4
Mus musculus Gene: Mthfd1
Summary
InnateDB Gene IDBG-150376.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Mthfd1
Gene Name methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase
Synonyms Dcs; E430024A07Rik; Mthfd
Species Mus musculus
Ensembl Gene ENSMUSG00000021048
Encoded Proteins
IDBP-150378
methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a trifunctional cytoplasmic enzyme. The encoded protein functions as a methylenetetrahydrofolate dehydrogenase, a methenyltetrahydrofolate cyclohydrolase, and a formyltetrahydrofolate synthase. The encoded enzyme functions in de novo synthesis of purines and thymidylate and in regeneration of methionine from homocysteine. [provided by RefSeq, Oct 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:76255232-76319820
Strand Forward strand
Band C3
Transcripts
ENSMUST00000021443 ENSMUSP00000021443
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
They are also associated with 44 interaction(s) predicted by orthology.
Experimentally validated
Total 18 [view]
Protein-Protein 18 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 44 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004329 formate-tetrahydrofolate ligase activity
GO:0004477 methenyltetrahydrofolate cyclohydrolase activity
GO:0004488 methylenetetrahydrofolate dehydrogenase (NADP+) activity
GO:0005524 ATP binding
Biological Process
GO:0000105 histidine biosynthetic process
GO:0006164 purine nucleotide biosynthetic process
GO:0006730 one-carbon metabolic process
GO:0009086 methionine biosynthetic process
GO:0009396 folic acid-containing compound biosynthetic process
GO:0035999 tetrahydrofolate interconversion
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0016020 membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000100714
View Gene Order
ENSBTAG00000009641
Not yet available
Pathways
NETPATH
REACTOME
REACT_189088
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
REACT_189085
Disease pathway
REACT_188937
Metabolism pathway
REACT_189089
Defective AMN causes hereditary megaloblastic anemia 1 pathway
REACT_189086
Defective GIF causes intrinsic factor deficiency pathway
REACT_189075
Defective MMAA causes methylmalonic aciduria type cblA pathway
REACT_189076
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
REACT_189078
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
REACT_189098
Defective CD320 causes methylmalonic aciduria pathway
REACT_189097
Defective MUT causes methylmalonic aciduria mut type pathway
REACT_189096
Defects in biotin (Btn) metabolism pathway
REACT_189095
Defective BTD causes biotidinase deficiency pathway
REACT_189093
Defective MMAB causes methylmalonic aciduria type cblB pathway
REACT_189092
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
REACT_189091
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
REACT_189090
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
REACT_254651
Metabolism of vitamins and cofactors pathway
REACT_220137
Metabolism of folate and pterines pathway
REACT_238663
Metabolism of water-soluble vitamins and cofactors pathway
REACT_189110
Defects in vitamin and cofactor metabolism pathway
REACT_189116
Defects in cobalamin (B12) metabolism pathway
REACT_189114
Defective TCN2 causes hereditary megaloblastic anemia pathway
REACT_189100
Defective HLCS causes multiple carboxylase deficiency pathway
KEGG
mmu00670
One carbon pool by folate pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_11167
Metabolism of folate and pterines pathway
REACT_169312
Defective HLCS causes multiple carboxylase deficiency pathway
REACT_169313
Defective MUT causes methylmalonic aciduria mut type pathway
REACT_169316
Defective MMAA causes methylmalonic aciduria type cblA pathway
REACT_169120
Defective TCN2 causes hereditary megaloblastic anemia pathway
REACT_11238
Metabolism of water-soluble vitamins and cofactors pathway
REACT_169280
Defective AMN causes hereditary megaloblastic anemia 1 pathway
REACT_169149
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
REACT_169363
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
REACT_169178
Defective CD320 causes methylmalonic aciduria pathway
REACT_169429
Defects in cobalamin (B12) metabolism pathway
REACT_169169
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
REACT_169238
Defects in biotin (Btn) metabolism pathway
REACT_169403
Defective BTD causes biotidinase deficiency pathway
REACT_169415
Defective GIF causes intrinsic factor deficiency pathway
REACT_169385
Defects in vitamin and cofactor metabolism pathway
REACT_169132
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
REACT_169256
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
REACT_169439
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
REACT_111217
Metabolism pathway
REACT_169318
Defective MMAB causes methylmalonic aciduria type cblB pathway
REACT_116125
Disease pathway
REACT_11193
Metabolism of vitamins and cofactors pathway
KEGG
hsa00670
One carbon pool by folate pathway
INOH
INOH website
Folate metabolism pathway
PID NCI
Cross-References
SwissProt Q922D8
TrEMBL Q8BXX7 Q8BY49
UniProt Splice Variant
Entrez Gene 108156
UniGene Mm.29584 Mm.450408 Mm.472060
RefSeq NM_138745
OMIM
CCDS CCDS25990
HPRD
IMGT
MGI ID MGI:1342005
MGI Symbol Mthfd1
EMBL AF364579 AF364580 AF364581 AF364582 AF364583 AF364584 AF364585 AF364586 AF364587 AF364588 AF364589 AF364590 AF364591 AK042019 AK042958 AK088700 BC008523
GenPept AAH08523 AAL99692 AAL99693 BAC31133 BAC31419 BAC40513
RNA Seq Atlas 108156

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca