MTHFS

General Information

Full gene name:5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) Entrez Gene ID:10588 Location:15q25.1 Synonyms:HsT19268 Type:protein-coding

User SNPs

SNPs given by the user that are near or inside this gene:

SNP	Distance (bp)	Direction
rs11634397	242595	upstream

NCBI Summary

The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

OMIM

OMIM ID:`OMIM ID 604197 `_

NCBI Phenotypes

No phenotypes found linked to this gene.

Gene Ontology

• plasma membrane
• Golgi apparatus
• cytosol
• 5-formyltetrahydrofolate cyclo-ligase activity
• folic acid-containing compound biosynthetic process
• ATP binding
• cytoplasm
• folic acid binding
• tetrahydrofolate metabolic process
• formate metabolic process

KEGG Pathways

• Metabolic pathways
• One carbon pool by folate

GeneRIFs

• Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) [PMID 19048631]
• The intronic Single nucleotide polymorphism in MTHFS had no significant effect on the risk of diabetic nephropathy in Taiwanese patients with T2D. [PMID 21895484]
• Two-hybrid [PMID 16189514]
• Affinity Capture-MS [PMID 20972266]
• Observational study and meta-analysis of gene-disease association. (HuGE Navigator) [PMID 17891500]
• Observational study of gene-disease association. (HuGE Navigator) [PMID 20877624]
• Methenyltetrahydrofolate synthetase regulates folate turnover and accumulation [PMID 12764149]

PubMed Articles

Recent articles:

• Lin CJ et al. “The impact of 5,10-methenyltetrahydrofolate synthetase polymorphism on diabetic nephropathy in the Taiwanese population.” Genet Test Mol Biomarkers. 2012 Feb;16(2):142-5. PMID 21895484
• Shi Y et al. “A data set of human endogenous protein ubiquitination sites.” Mol Cell Proteomics. 2011 May;10(5):M110.002089. PMID 20972266
• Prakash T et al. “Expression of conjoined genes: another mechanism for gene regulation in eukaryotes.” PLoS One. 2010 Oct 12;5(10):e13284. PMID 20967262
• Hendrickson SL et al. “Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.” PLoS One. 2010 Sep 21;5(9):e12862. PMID 20877624
• Jugessur A et al. “Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.” PLoS One. 2010 Jul 9;5(7):e11493. PMID 20634891
• Kelemen LE et al. “Genetic variation in TYMS in the one-carbon transfer pathway is associated with ovarian carcinoma types in the Ovarian Cancer Association Consortium.” Cancer Epidemiol Biomarkers Prev. 2010 Jul;19(7):1822-30. PMID 20570913
• Hazra A et al. “Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer.” Cancer Causes Control. 2010 Mar;21(3):331-45. PMID 19936946
• Wu D et al. “Structural basis for the inhibition of human 5,10-methenyltetrahydrofolate synthetase by N10-substituted folate analogues.” Cancer Res. 2009 Sep 15;69(18):7294-301. PMID 19738041
• Boyles AL et al. “Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.” Genet Epidemiol. 2009 Apr;33(3):247-55. PMID 19048631
• Franke B et al. “An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).” Birth Defects Res A Clin Mol Teratol. 2009 Mar;85(3):216-26. PMID 19161160

Top Pubmed articles linked to gene MTHFS matching any search term:

• Lin CJ et al. “The impact of 5,10-methenyltetrahydrofolate synthetase polymorphism on diabetic nephropathy in the Taiwanese population.” Genet Test Mol Biomarkers. 2012 Feb;16(2):142-5. PMID 21895484