Property Summary

NCBI Gene PubMed Count 141
Grant Count 31
R01 Count 8
Funding $11,411,189.14
PubMed Score 82.52
PubTator Score 102.06

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.295 0.003
tuberculosis 1.900 0.000
pancreatic ductal adenocarcinoma liver m... -1.379 0.020
lung cancer 2.000 0.001
ductal carcinoma in situ -1.200 0.000
ovarian cancer 1.300 0.000

 GWAS Trait (1)

Gene RIF (132)

PMID Text
26343515 polymorphism of SNP loci rs1956545 and rs56811449 as well as a haplotype in MTHFD1 gene could have a role in the occurrence of neural tube defects in the Chinese population
26299783 Data suggest impaired folate metabolism down-regulates placenta trophoblast proliferation, viability, invasive capacity, and progesterone secretion; silencing MTHFD1 gene down-regulates cell proliferation but does not alter progesterone secretion.
25730024 We found that the compound mutation genotypes MTHFD-G1958A, MTR-A2756G, and RFC1-G80A increased the risk of preterm birth (OR = 2.88, 95%CI = 1.08-7.72, P = 0.028).
25548164 impact of MTHFD1 loss of function on folate-dependent purine, dTMP, and methionine biosynthesis in fibroblasts with MTHFD1 deficiency
25544792 The MTRR c.66A>G (rs1801394) polymorphism and MTHFD1 c.1958G>A (rs2236225) are associated with increased maternal risk for Down syndrome. [Meta-analysis]
25524527 MTHFD1 1958G > A is significantly associated with the susceptibility of neural tube defects in a Chinese population.
25502174 the present meta-analysis provided evidence of the association between maternal MTHFD1 G1958A polymorphism and neural tube defects susceptibility.
25304051 G1958A (MTHFD1) polymorphisms showed no association with ischemic heart disease in patients from Yucatan, Mexico
25213861 methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), an enzyme that generates methylenetetrahydrofolate from formate, ATP, and NADPH, functions in the nucleus to support de novo thymidylate biosynthesis.
25129243 The results indicated the MTHFD1 1958G>A polymorphism to be one of the important genetic determinants of NSCLP risk in South Indian subjects
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AA Sequence

MAPAEILNGKEISAQIRARLKNQVTQLKEQVPGFTPRLAILQVGNRDDSNLYINVKLKAAEEIGIKATHI      1 - 70
KLPRTTTESEVMKYITSLNEDSTVHGFLVQLPLDSENSINTEEVINAIAPEKDVDGLTSINAGRLARGDL     71 - 140
NDCFIPCTPKGCLELIKETGVPIAGRHAVVVGRSKIVGAPMHDLLLWNNATVTTCHSKTAHLDEEVNKGD    141 - 210
ILVVATGQPEMVKGEWIKPGAIVIDCGINYVPDDKKPNGRKVVGDVAYDEAKERASFITPVPGGVGPMTV    211 - 280
AMLMQSTVESAKRFLEKFKPGKWMIQYNNLNLKTPVPSDIDISRSCKPKPIGKLAREIGLLSEEVELYGE    281 - 350
TKAKVLLSALERLKHRPDGKYVVVTGITPTPLGEGKSTTTIGLVQALGAHLYQNVFACVRQPSQGPTFGI    351 - 420
KGGAAGGGYSQVIPMEEFNLHLTGDIHAITAANNLVAAAIDARIFHELTQTDKALFNRLVPSVNGVRRFS    421 - 490
DIQIRRLKRLGIEKTDPTTLTDEEINRFARLDIDPETITWQRVLDTNDRFLRKITIGQAPTEKGHTRTAQ    491 - 560
FDISVASEIMAVLALTTSLEDMRERLGKMVVASSKKGEPVSAEDLGVSGALTVLMKDAIKPNLMQTLEGT    561 - 630
PVFVHAGPFANIAHGNSSIIADRIALKLVGPEGFVVTEAGFGADIGMEKFFNIKCRYSGLCPHVVVLVAT    631 - 700
VRALKMHGGGPTVTAGLPLPKAYIQENLELVEKGFSNLKKQIENARMFGIPVVVAVNAFKTDTESELDLI    701 - 770
SRLSREHGAFDAVKCTHWAEGGKGALALAQAVQRAAQAPSSFQLLYDLKLPVEDKIRIIAQKIYGADDIE    771 - 840
LLPEAQHKAEVYTKQGFGNLPICMAKTHLSLSHNPEQKGVPTGFILPIRDIRASVGAGFLYPLVGTMSTM    841 - 910
PGLPTRPCFYDIDLDPETEQVNGLF                                                 911 - 935
//

Text Mined References (150)

PMID Year Title
26343515 2015 Polymorphisms in MTHFD1 Gene and Susceptibility to Neural Tube Defects: A Case-Control Study in a Chinese Han Population with Relatively Low Folate Levels.
26299783 2015 Altered folate metabolism modifies cell proliferation and progesterone secretion in human placental choriocarcinoma JEG-3 cells.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25730024 2015 Association between SNPs in genes involved in folate metabolism and preterm birth risk.
25633902 2015 Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
25548164 2015 Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis.
25544792 2014 Genetic polymorphisms involved in folate metabolism and maternal risk for down syndrome: a meta-analysis.
25524527 2015 Association between MTHFD1 polymorphisms and neural tube defect susceptibility.
25502174 2015 MTHFD1 polymorphism as maternal risk for neural tube defects: a meta-analysis.
25304051 [G894T (NOS3) and G1958A (MTHFD1) gene polymorphisms and risk of ischemic heart disease in Yucatan, Mexico].
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