Version 5.4
Homo sapiens Gene: MTHFR
Summary
InnateDB Gene IDBG-89655.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MTHFR
Gene Name methylenetetrahydrofolate reductase (NAD(P)H)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000177000
Encoded Proteins
IDBP-89657
methylenetetrahydrofolate reductase (NAD(P)H)
IDBP-89659
methylenetetrahydrofolate reductase (NAD(P)H)
IDBP-89661
methylenetetrahydrofolate reductase (NAD(P)H)
IDBP-89663
methylenetetrahydrofolate reductase (NAD(P)H)
IDBP-89770
methylenetetrahydrofolate reductase (NAD(P)H)
IDBP-369037
methylenetetrahydrofolate reductase (NAD(P)H)
IDBP-369043
methylenetetrahydrofolate reductase (NAD(P)H)
IDBP-369050
methylenetetrahydrofolate reductase (NAD(P)H)
IDBP-369054
methylenetetrahydrofolate reductase (NAD(P)H)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 1:11785723-11806920
Strand Reverse strand
Band p36.22
Transcripts
ENST00000376592 ENSP00000365777
ENST00000376590 ENSP00000365775
ENST00000376585 ENSP00000365770
ENST00000376583 ENSP00000365767
ENST00000376486 ENSP00000365669
ENST00000418034 ENSP00000405082
ENST00000431243 ENSP00000400460
ENST00000423400 ENSP00000398908
ENST00000413656 ENSP00000408307
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
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:0006520 cellular amino acid metabolic process
GO:0006555 methionine metabolic process
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0008015 blood circulation
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:0044281 small molecule metabolic process
GO:0046500 S-adenosylmethionine metabolic process
GO:0046653 tetrahydrofolate metabolic process
GO:0046655 folic acid 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
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000029009
View Gene Order
ENSBTAG00000020698
Not yet available
Pathways
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
UniProt Splice Variant
Entrez Gene
UniGene Hs.214142 Hs.709010 Hs.737916
RefSeq NM_005957 XM_005263460 XM_005263461 XM_005263462 XM_005263463
HUGO
OMIM
CCDS CCDS137
HPRD 06158
IMGT
EMBL
GenPept
RNA Seq Atlas

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