ID:C1TC_HUMAN DESCRIPTION: RecName: Full=C-1-tetrahydrofolate synthase, cytoplasmic; Short=C1-THF synthase; Includes: RecName: Full=Methylenetetrahydrofolate dehydrogenase; EC=1.5.1.5; Includes: RecName: Full=Methenyltetrahydrofolate cyclohydrolase; EC=3.5.4.9; Includes: RecName: Full=Formyltetrahydrofolate synthetase; EC=6.3.4.3; CATALYTIC ACTIVITY: 5,10-methylenetetrahydrofolate + NADP(+) = 5,10-methenyltetrahydrofolate + NADPH. CATALYTIC ACTIVITY: 5,10-methenyltetrahydrofolate + H(2)O = 10- formyltetrahydrofolate. CATALYTIC ACTIVITY: ATP + formate + tetrahydrofolate = ADP + phosphate + 10-formyltetrahydrofolate. PATHWAY: One-carbon metabolism; tetrahydrofolate interconversion. SUBUNIT: Homodimer. INTERACTION: P23508:MCC; NbExp=1; IntAct=EBI-709638, EBI-307531; Q9Y4K3:TRAF6; NbExp=1; IntAct=EBI-709638, EBI-359276; Q9P2S5:WDR8; NbExp=1; IntAct=EBI-709638, EBI-1054904; SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Ubiquitous. DOMAIN: This trifunctional enzyme consists of two major domains: an N-terminal part containing the methylene-THF dehydrogenase and cyclohydrolase activities and a larger C-terminal part containing formyl-THF synthetase activity. DISEASE: Defects in MTHFD1 may be a cause of susceptibility to folate-sensitive neural tube defects (FS-NTD) [MIM:601634]. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. Genetic defects in MTHFD1 may affect the risk of spina bifida via the maternal rather than the embryonic genotype. DISEASE: Genetic variation in MTHFD1 could be associated with susceptibility to colorectal cancer (CRC) [MIM:114500]. SIMILARITY: In the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family. SIMILARITY: In the C-terminal section; belongs to the formate-- tetrahydrofolate ligase family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P11586
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
