Description: Homo sapiens 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) (MTHFS), transcript variant 1, mRNA. RefSeq Summary (NM_006441): 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]. Transcript (Including UTRs) Position: hg19 chr15:80,135,889-80,189,391 Size: 53,503 Total Exon Count: 3 Strand: - Coding Region Position: hg19 chr15:80,137,552-80,189,330 Size: 51,779 Coding Exon Count: 3
Cholesterol, LDL Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903299]
Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
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 P49914
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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.
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00670 - One carbon pool by folate hsa01100 - Metabolic pathways
BioCyc Knowledge Library PWY-2201 - folate transformations I PWY-3841 - folate transformations II (plants)
Reactome (by CSHL, EBI, and GO)
Protein P49914 (Reactome details) participates in the following event(s):
R-HSA-6801342 MTHFS transforms 5-formyl-THFPG to 5,10-methenyl-THFPG R-HSA-196757 Metabolism of folate and pterines R-HSA-196849 Metabolism of water-soluble vitamins and cofactors R-HSA-196854 Metabolism of vitamins and cofactors R-HSA-1430728 Metabolism
US Server
