Homo sapiens Gene: MTHFD1
Summary
InnateDB Gene IDBG-9107.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MTHFD1
Gene Name methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
Synonyms MTHFC; MTHFD
Species Homo sapiens
Ensembl Gene ENSG00000100714
Encoded Proteins
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:64388031-64463457
Strand Forward strand
Band q23.3
Transcripts
ENST00000216605 ENSP00000216605
ENST00000545908 ENSP00000438588
ENST00000554739 ENSP00000477359
ENST00000554768 ENSP00000477501
ENST00000555252
ENST00000557539 ENSP00000476468
ENST00000554057
ENST00000553391
ENST00000554677
ENST00000555858
ENST00000556771
ENST00000553405
ENST00000556284
ENST00000557370 ENSP00000477199
ENST00000554353
ENST00000555709 ENSP00000450560
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 61 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 61 [view]
Protein-Protein 54 [view]
Protein-DNA 7 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004329 formate-tetrahydrofolate ligase activity
GO:0004477 methenyltetrahydrofolate cyclohydrolase activity
GO:0004486 methylenetetrahydrofolate dehydrogenase [NAD(P)+] 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:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0009086 methionine biosynthetic process
GO:0009396 folic acid-containing compound biosynthetic process
GO:0035999 tetrahydrofolate interconversion
GO:0044281 small molecule metabolic process
GO:0046655 folic acid metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0016020 membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
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
KEGG
One carbon pool by folate pathway
INOH
Folate metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.652308 Hs.656509
RefSeq NM_005956
HUGO
OMIM
CCDS CCDS9763
HPRD 01403
IMGT
EMBL
GenPept
RNA Seq Atlas