Version 5.4
Mus musculus Gene: Mthfr
Summary
InnateDB Gene IDBG-204083.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Mthfr
Gene Name 5,10-methylenetetrahydrofolate reductase
Synonyms AI323986
Species Mus musculus
Ensembl Gene ENSMUSG00000029009
Encoded Proteins
IDBP-204085
5,10-methylenetetrahydrofolate reductase
IDBP-204089
5,10-methylenetetrahydrofolate reductase
IDBP-532577
5,10-methylenetetrahydrofolate reductase
IDBP-540384
5,10-methylenetetrahydrofolate reductase
IDBP-531836
5,10-methylenetetrahydrofolate reductase
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:148039077-148059551
Strand Forward strand
Band E2
Transcripts
ENSMUST00000097788 ENSMUSP00000095395
ENSMUST00000069604 ENSMUSP00000069774
ENSMUST00000141283 ENSMUSP00000116239
ENSMUST00000145115
ENSMUST00000152498 ENSMUSP00000117095
ENSMUST00000125978
ENSMUST00000156113 ENSMUSP00000116840
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.
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004489 methylenetetrahydrofolate reductase (NADPH) activity
GO:0050660 flavin adenine dinucleotide binding
GO:0050661 NADP binding
GO:0072341 modified amino acid binding
Biological Process
GO:0001666 response to hypoxia
GO:0006555 methionine metabolic process
GO:0009086 methionine biosynthetic process
GO:0033274 response to vitamin B2
GO:0035999 tetrahydrofolate interconversion
GO:0042493 response to drug
GO:0043200 response to amino acid
GO:0046500 S-adenosylmethionine metabolic process
GO:0046653 tetrahydrofolate metabolic process
GO:0050667 homocysteine metabolic process
GO:0051593 response to folic acid
GO:0055114 oxidation-reduction process
GO:0070555 response to interleukin-1
Cellular Component
GO:0005829 cytosol
GO:0043005 neuron projection
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000177000
View Gene Order
ENSBTAG00000020698
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
TrEMBL A2A7F9 F6Z4F8 Q3V399 Q497H7 Q8CJA5 Q8CJA7
UniProt Splice Variant
Entrez Gene 17769
UniGene Mm.488673 Mm.89959
RefSeq NM_001161798 NM_010840 XM_006535928 XM_006535929 XM_006535930 XM_006535931 XM_006535932 XM_006535933 XM_006538617 XM_006538618 XM_006538619 XM_006538620 XM_006538621 XM_006538622
OMIM
CCDS CCDS18929 CCDS51376
HPRD
IMGT
MGI ID MGI:106639
MGI Symbol Mthfr
EMBL AF105988 AF105989 AF105990 AF105991 AF105992 AF105993 AF105994 AF105995 AF105996 AF105997 AF105998 AF404272 AF404274 AK030192 AK043144 AL606929 BC051017 BC052466 BC100550 CH466594
GenPept AAD20313 AAH51017 AAH52466 AAI00551 AAN40874 AAN40876 BAC26832 BAE43318 CAM14896 EDL14794 EDL14796 EDL14797
RNA Seq Atlas 17769

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