Property Summary

NCBI Gene PubMed Count 33
PubMed Score 42.34
PubTator Score 22.32

Knowledge Summary


No data available


  Differential Expression (11)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.400 2.7e-04
glioblastoma 1.200 4.4e-03
active Crohn's disease 1.593 2.6e-03
ulcerative colitis 1.700 2.0e-07
primary Sjogren syndrome 1.300 4.1e-04
lung adenocarcinoma 1.200 3.1e-11
nasopharyngeal carcinoma 1.200 5.8e-04
psoriasis 1.100 5.1e-09
Polycystic Ovary Syndrome -1.040 1.3e-02
gastric carcinoma 1.800 4.5e-02
ovarian cancer 2.200 8.7e-04

Gene RIF (24)

26926881 Studies reported that the A allele of a polymorphism in a gene involved in folate metabolism, MTHFD1L, showed a genome-wide significant association with late-onset Alzheimer's Disease.
25809277 rs6922269 variant at MTHFD1L gene could be an important prognostic factor for cardiovascular mortality in patients after ACS.
24618918 MTHFD1L rs6922269 genotype is associated with active vitamin B12 levels at baseline and may be a marker of prognostic risk in patients with established coronary heart disease.
24123340 Results indicate that miR-9 and MiR-197 specifically downregulate MTHFD1L in HEK293 and MCF-7 cells and that SNPrs7646 affects miR-197 binding to the MTHFD1L 3' UTR causing gene repression in the presence of the allele associated with neural tube defects.
22520921 The rs3832406 polymorphism was associated with isolated cleft lip with or without cleft palate.(MTHFD1L)
22330827 This study support a role of MTHFD1L gene in late-onset Alzheimer's disease in a Northern Han Chinese population.
22277967 Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients
21741665 Prevalence of minor allele A (adenosine) in rs11754661 single nucleotide polymorphism of MTHFD1L contributes to the risk of Alzheimer's disease in a Han population of mainland China.
21383495 No evidence of association between the MTHFD1L marker and susceptibility to Alzheimer's disease is found in a sample from a Spanish population.
20885792 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20877624 Observational study of gene-disease association. (HuGE Navigator)
20738937 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20694560 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19955471 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19777576 Two of the three alleles of rs3832406 are functionally different and influence the splicing efficiency of the alternate MTHFD1L mRNA transcripts.
19777576 Observational study of gene-disease association. (HuGE Navigator)
19373437 association of rs6922269 with coronary heart disease not replicated in Tunisian sample
19336575 Observational study of gene-disease association. (HuGE Navigator)
18978678 Observational study of gene-disease association. (HuGE Navigator)
16171773 Gene encodes the mitochondrial isozyme of C1-tetrahydrofolate (THF) synthase, a monofunctional enzyme containing formyl-THF synthetase activity.
15068241 Overexpression of C1-tetrahydrofolate synthase in fetal Down syndrome brain at the early second trimester may indicate abnormal folate metabolism and may reflect folate deficiency.
12937168 mitochondrial C1-tetrahydrofolate synthase gene structure and tissue distribution

AA Sequence


Text Mined References (42)

PMID Year Title
26926881 2016 Distinct effects of folate pathway genes MTHFR and MTHFD1L on ruminative response style: a potential risk mechanism for depression.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25809277 2015 Rs6922269 marker at the MTHFD1L gene predict cardiovascular mortality in males after acute coronary syndrome.
24618918 2014 Genetic polymorphism rs6922269 in the MTHFD1L gene is associated with survival and baseline active vitamin B12 levels in post-acute coronary syndromes patients.
24123340 2014 An NTD-associated polymorphism in the 3' UTR of MTHFD1L can affect disease risk by altering miRNA binding.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22520921 2012 Genotyping of a tri-allelic polymorphism by a novel melting curve assay in MTHFD1L: an association study of nonsyndromic Cleft in Ireland.
22330827 2012 Replication of the MTHFD1L gene association with late-onset Alzheimer's disease in a Northern Han Chinese population.
22277967 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
21741665 2011 The MTHFD1L gene rs11754661 marker is associated with susceptibility to Alzheimer's disease in the Chinese Han population.
21540461 2011 A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia.
21383495 2011 The MTHFD1L gene rs11754661 marker is not associated with Alzheimer's disease in a sample of the Spanish population.
21269460 2011 Initial characterization of the human central proteome.
20885792 2010 Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20738937 2010 Additive effect of multiple genetic variants on the risk of coronary artery disease.
20694560 2011 Common genetic polymorphisms in moyamoya and atherosclerotic disease in Europeans.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
19955471 2010 Genetic variants identified in a European genome-wide association study that were found to predict incident coronary heart disease in the atherosclerosis risk in communities study.
19946888 2010 Defining the membrane proteome of NK cells.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19777576 2009 A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19373437 2010 Association of three polymorphisms selected from a genome-wide association study with coronary heart disease in the Tunisian population.
19336575 2009 Genetic analysis of coronary artery disease single-nucleotide polymorphisms in diabetic nephropathy.
18978678 2008 Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
18804703 2008 Mitochondrial methylenetetrahydrofolate dehydrogenase, methenyltetrahydrofolate cyclohydrolase, and formyltetrahydrofolate synthetases.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17634449 2007 Genomewide association analysis of coronary artery disease.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16171773 2005 Enzymatic characterization of human mitochondrial C1-tetrahydrofolate synthase.
15611115 2005 Disruption of the mthfd1 gene reveals a monofunctional 10-formyltetrahydrofolate synthetase in mammalian mitochondria.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15068241 2003 Overexpression of C1-tetrahydrofolate synthase in fetal Down syndrome brain.
15013446 2004 A novel mitochondrial C1-tetrahydrofolate synthetase is upregulated in human colon adenocarcinoma.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12937168 2003 Human mitochondrial C1-tetrahydrofolate synthase: gene structure, tissue distribution of the mRNA, and immunolocalization in Chinese hamster ovary calls.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.