Gene: MTHFD1

4522
CIMAH|MTHFC|MTHFD
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
protein-coding
14q23.3
Ensembl:ENSG00000100714 MIM:172460 Vega:OTTHUMG00000141309 UniprotKB:P11586
NG_012450.1
PubMed
0   ANCO-SNPs
ND|AD
7   
NA (AD)  NA (ND)   (Frontal_Cortex)
2.247e-1 (AD)  8.873e-2 (ND)

DNA Methylation

There is no related methylation information for this gene.

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
LONP20.926
C6orf890.914
VPS450.911
CKAP50.908
VPS390.906
SMARCA20.906
DDB10.905
USP40.904
PDK20.901
PEX190.9

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
OR4F5-0.633
OR4F29-0.582
MTRNR2L6-0.387
MTRNR2L9-0.356
MTRNR2L10-0.319
CTNNA3-0.318
SPINK8-0.302
KLRK1-0.302
PPBP-0.301
SGMS2-0.3

Drugs/Compounds

    There is no DrugBank record for this gene !

ID Drug Name Action PubMed
C0364231-aminomethylphosphonic acid[Herbicides co-treated with 1-aminomethylphosphonic acid] results in decreased expression of MTHFD1 mRNA20566314
C1111182',3,3',4',5-pentachloro-4-hydroxybiphenyl"2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of MTHFD1 mRNA"19114083
C0294972,3-bis(3'-hydroxybenzyl)butyrolactone"[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in increased expression of MTHFD1 mRNA"19167446
C4591794-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide"[NOG protein co-treated with entinostat co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MTHFD1 mRNA"27188386
C4591794-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide"[NOG protein co-treated with trichostatin A co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MTHFD1 mRNA"27188386
C4591794-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide"[NOG protein co-treated with Valproic Acid co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MTHFD1 mRNA"27188386
C516138(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine"[NOG protein co-treated with entinostat co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MTHFD1 mRNA"27188386
C516138(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine"[NOG protein co-treated with trichostatin A co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MTHFD1 mRNA"27188386
C516138(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine"[NOG protein co-treated with Valproic Acid co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MTHFD1 mRNA"27188386
D000082AcetaminophenAcetaminophen affects the expression of MTHFD1 mRNA25704631
D000082AcetaminophenAcetaminophen results in decreased expression of MTHFD1 mRNA29067470
D000082AcetaminophenAcetaminophen affects the expression of MTHFD1 mRNA17562736
D000082AcetaminophenAcetaminophen results in increased expression of MTHFD1 protein16538041
D020106AcrylamideAcrylamide results in increased expression of MTHFD1 mRNA28959563
D012436S-AdenosylmethionineMTHFD1 protein results in increased abundance of S-Adenosylmethionine19033438
D016604Aflatoxin B1Aflatoxin B1 results in decreased methylation of MTHFD1 gene27153756
D000643Ammonium ChlorideAmmonium Chloride affects the expression of MTHFD1 mRNA16483693
C006632arsenic trioxidearsenic trioxide results in decreased expression of MTHFD1 mRNA20458559
C006632arsenic trioxidearsenic trioxide results in increased sumoylation of and results in increased degradation of MTHFD1 protein28265077
C006632arsenic trioxidebenzyloxycarbonylleucyl-leucyl-leucine aldehyde inhibits the reaction [arsenic trioxide results in increased degradation of MTHFD1 protein]28265077
D001280AtrazineAtrazine results in increased expression of MTHFD1 mRNA25929836
D001280AtrazineAtrazine results in increased expression of MTHFD1 mRNA22378314
C006703benzo(b)fluoranthenebenzo(b)fluoranthene results in decreased expression of MTHFD1 mRNA26377693
C072553benzyloxycarbonylleucyl-leucyl-leucine aldehydebenzyloxycarbonylleucyl-leucyl-leucine aldehyde inhibits the reaction [arsenic trioxide results in increased degradation of MTHFD1 protein]28265077
D004958EstradiolEstradiol results in decreased expression of MTHFD1 mRNA16705744
D004958EstradiolEstradiol results in increased expression of MTHFD1 mRNA19167446
C006780bisphenol Abisphenol A results in increased expression of MTHFD1 mRNA25181051
C013418bromfenacoumbromfenacoum results in increased expression of MTHFD1 protein28903499
D002065BuspironeBuspirone results in decreased expression of MTHFD1 mRNA24136188
D002251Carbon TetrachlorideCarbon Tetrachloride affects the expression of MTHFD1 mRNA17484886
D002251Carbon TetrachlorideCarbon Tetrachloride results in decreased expression of MTHFD1 mRNA27339419
D002794CholineMTHFD1 gene SNP affects the susceptibility to Choline17616785
D002794Choline[Choline deficiency co-treated with Folic Acid deficiency] affects the expression of MTHFD1 mRNA23439872
D002794Choline[Choline deficiency co-treated with Folic Acid deficiency] inhibits the reaction [CEBPB protein binds to MTHFD1 promoter]23439872
D002794Choline[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of MTHFD1 mRNA20938992
C074702chromium hexavalent ionchromium hexavalent ion affects the expression of MTHFD1 mRNA28472532
C018021cobaltous chloridecobaltous chloride results in decreased expression of MTHFD1 mRNA19320972|1937684
D003300Copper[NSC 689534 binds to Copper] which results in decreased expression of MTHFD1 mRNA20971185
D019327Copper SulfateCopper Sulfate results in decreased expression of MTHFD1 mRNA19549813
D003375Coumestrol"[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in increased expression of MTHFD1 mRNA"19167446
D003375Coumestrol[Coumestrol co-treated with resveratrol] results in increased expression of MTHFD1 mRNA19167446
D003375CoumestrolCoumestrol results in increased expression of MTHFD1 mRNA19167446
D003471CuprizoneCuprizone results in increased expression of MTHFD1 mRNA26577399
D016572CyclosporineCyclosporine results in decreased expression of MTHFD1 mRNA20106945|2556210
C014347decitabinedecitabine affects the expression of MTHFD1 mRNA23300844
C014347decitabinedecitabine results in increased expression of MTHFD1 mRNA15251184
C014347decitabine[Tetrachlorodibenzodioxin co-treated with decitabine] results in increased expression of MTHFD1 mRNA15251184
D003993Dibutyl PhthalateDibutyl Phthalate results in decreased expression of MTHFD1 mRNA17361019|2126653
D003993Dibutyl PhthalateDibutyl Phthalate results in decreased expression of MTHFD1 mRNA21266533
D002945CisplatinCisplatin affects the expression of MTHFD1 mRNA23300844
D004178DiquatDiquat results in increased expression of MTHFD1 mRNA16488489
D004317DoxorubicinDoxorubicin affects the expression of MTHFD1 protein29385562
C118739entinostatentinostat results in increased expression of MTHFD1 mRNA26272509
C118739entinostat"[NOG protein co-treated with entinostat co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MTHFD1 mRNA"27188386
D004791Enzyme Inhibitors[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of MTHFD1 protein23301498
D004997Ethinyl EstradiolEthinyl Estradiol results in increased expression of MTHFD1 mRNA17942748
D004997Ethinyl Estradiol[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of MTHFD1 mRNA17942748
C540355fenamidonefenamidone results in increased expression of MTHFD1 mRNA27029645
D005492Folic Acid[Choline deficiency co-treated with Folic Acid deficiency] affects the expression of MTHFD1 mRNA23439872
D005492Folic Acid[Choline deficiency co-treated with Folic Acid deficiency] inhibits the reaction [CEBPB protein binds to MTHFD1 promoter]23439872
D005492Folic Acid[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of MTHFD1 mRNA20938992
D019833GenisteinGenistein results in decreased expression of MTHFD1 mRNA16705744
D005897GlafenineGlafenine results in decreased expression of MTHFD1 mRNA24136188
D006540Herbicides[Herbicides co-treated with 1-aminomethylphosphonic acid] results in decreased expression of MTHFD1 mRNA20566314
D017313FenretinideFenretinide results in decreased expression of MTHFD1 mRNA28973697
D015759Ionomycin[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of MTHFD1 mRNA25613284
C410337K 7174K 7174 results in decreased expression of MTHFD1 mRNA24086573
D007854LeadLead results in decreased expression of MTHFD1 mRNA19921347
D008715Methionine[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of MTHFD1 mRNA20938992
D008727MethotrexateMTHFD1 gene polymorphism affects the susceptibility to Methotrexate17530705
C004925methylmercuric chloridemethylmercuric chloride affects the expression of MTHFD1 protein27012723
D008741Methyl MethanesulfonateMethyl Methanesulfonate results in decreased expression of MTHFD1 mRNA23649840
C043243methyl tert-butyl ethermethyl tert-butyl ether affects the expression of MTHFD1 mRNA24128854
D037742Nanotubes, Carbon"Nanotubes, Carbon analog results in decreased expression of MTHFD1 mRNA"25554681
D037742Nanotubes, Carbon"Nanotubes, Carbon results in decreased expression of MTHFD1 mRNA"25620056
D037742Nanotubes, Carbon"Nanotubes, Carbon results in increased expression of MTHFD1 mRNA"25554681
C017096n-butoxyethanoln-butoxyethanol results in increased expression of MTHFD1 mRNA19812364
C558013NSC 689534[NSC 689534 binds to Copper] which results in decreased expression of MTHFD1 mRNA20971185
C030110oxaliplatin[oxaliplatin co-treated with Topotecan] results in decreased expression of MTHFD1 mRNA25729387
C030110oxaliplatinoxaliplatin results in decreased expression of MTHFD1 mRNA25729387
D010100OxygenOxygen deficiency results in decreased expression of MTHFD1 mRNA26516004
D010100OxygenOxygen deficiency results in decreased expression of MTHFD1 mRNA22629407
D010100OxygenOxygen inhibits the reaction [Oxygen deficiency results in decreased expression of MTHFD1 mRNA]22629407
D010634PhenobarbitalPhenobarbital results in increased expression of MTHFD1 mRNA19162173
C006253pirinixic acidpirinixic acid results in decreased expression of MTHFD1 mRNA17426115|1844570
D010936Plant ExtractsPlant Extracts results in increased expression of MTHFD1 mRNA23557933
D011285Pregnenolone CarbonitrilePregnenolone Carbonitrile results in increased expression of MTHFD1 mRNA19162173
C059514resveratrol[Coumestrol co-treated with resveratrol] results in increased expression of MTHFD1 mRNA19167446
C446685systhanesysthane results in decreased expression of MTHFD1 mRNA16730040
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin affects the expression of MTHFD1 mRNA21570461
D013749Tetrachlorodibenzodioxin[Tetrachlorodibenzodioxin co-treated with decitabine] results in increased expression of MTHFD1 mRNA15251184
D013749Tetrachlorodibenzodioxin[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of MTHFD1 mRNA17942748
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin results in increased expression of MTHFD1 mRNA17942748
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin results in decreased expression of MTHFD1 mRNA20959002|2121527
D013755Tetradecanoylphorbol Acetate[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of MTHFD1 mRNA25613284
D019284ThapsigarginThapsigargin results in decreased expression of MTHFD1 mRNA22378314
D019284ThapsigarginThapsigargin results in increased expression of MTHFD1 protein24648495
D014028Tobacco Smoke PollutionTobacco Smoke Pollution results in decreased expression of MTHFD1 mRNA28065790
D014028Tobacco Smoke PollutionTobacco Smoke Pollution results in decreased expression of MTHFD1 protein22609517
D019772Topotecan[oxaliplatin co-treated with Topotecan] results in decreased expression of MTHFD1 mRNA25729387
D019772TopotecanTopotecan results in decreased expression of MTHFD1 mRNA25729387
C012589trichostatin A"[NOG protein co-treated with trichostatin A co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MTHFD1 mRNA"27188386
C012589trichostatin Atrichostatin A results in increased expression of MTHFD1 mRNA24935251|2627250
C015559trimellitic anhydridetrimellitic anhydride results in increased expression of MTHFD1 mRNA19042947
D014415TunicamycinTunicamycin results in decreased expression of MTHFD1 mRNA22378314
D014520UrethaneUrethane results in decreased expression of MTHFD1 mRNA28818685
D014635Valproic Acid"[NOG protein co-treated with Valproic Acid co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MTHFD1 mRNA"27188386
D014635Valproic AcidValproic Acid affects the expression of MTHFD1 mRNA25979313
D014635Valproic AcidValproic Acid results in increased expression of MTHFD1 mRNA23179753|2438349
D014640VancomycinVancomycin results in increased expression of MTHFD1 mRNA18930951
C029297vinylidene chloridevinylidene chloride results in decreased expression of MTHFD1 mRNA26682919
D024483Vitamin K 3Vitamin K 3 affects the expression of MTHFD1 mRNA20044591
C111237vorinostatvorinostat results in decreased expression of MTHFD1 mRNA27188386
D019287Zinc SulfateZinc Sulfate results in decreased expression of MTHFD1 mRNA12756304

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0004329formate-tetrahydrofolate ligase activity-IBA21873635  
GO:0004329formate-tetrahydrofolate ligase activity-ISS-  
GO:0004329formate-tetrahydrofolate ligase activity-TAS-  
GO:0004477methenyltetrahydrofolate cyclohydrolase activity-IBA21873635  
GO:0004477methenyltetrahydrofolate cyclohydrolase activity-TAS-  
GO:0004486methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity-TAS-  
GO:0004487methylenetetrahydrofolate dehydrogenase (NAD+) activity-ISS-  
GO:0004488methylenetetrahydrofolate dehydrogenase (NADP+) activity-IBA21873635  
GO:0005515protein binding-IPI24169621  
GO:0005524ATP binding-IEA-  
GO ID GO Term Qualifier Evidence PubMed
GO:0000105histidine biosynthetic process-IEA-  
GO:0001780neutrophil homeostasis-IEA-  
GO:0001843neural tube closure-ISS-  
GO:0006164purine nucleotide biosynthetic process-ISS-  
GO:0006555methionine metabolic process-ISS-  
GO:0006730one-carbon metabolic process-IMP25633902  
GO:0007507heart development-ISS-  
GO:0009069serine family amino acid metabolic process-ISS-  
GO:0009070serine family amino acid biosynthetic process-IMP25633902  
GO:0009086methionine biosynthetic process-IMP25633902  
GO:0009113purine nucleobase biosynthetic process-IBA21873635  
GO:000925710-formyltetrahydrofolate biosynthetic process-IBA21873635  
GO:000925710-formyltetrahydrofolate biosynthetic process-ISS-  
GO:0019346transsulfuration-IEA-  
GO:0035999tetrahydrofolate interconversion-IEA-  
GO:0035999tetrahydrofolate interconversion-ISS-  
GO:0046655folic acid metabolic process-TAS-  
GO:0048702embryonic neurocranium morphogenesis-ISS-  
GO:0048703embryonic viscerocranium morphogenesis-ISS-  
GO:0055114oxidation-reduction process-IEA-  
GO:0061053somite development-ISS-  
GO ID GO Term Qualifier Evidence PubMed
GO:0005737cytoplasm-IBA21873635  
GO:0005739mitochondrion-TAS3528153  
GO:0005829cytosol-IDA-  
GO:0005829cytosol-TAS-  
GO:0016020membrane-HDA19946888  
GO:0070062extracellular exosome-HDA19056867  20458337  23533145  
KEGG ID KEGG Term
hsa00670One carbon pool by folate
hsa01100Metabolic pathways
Reactome ID Reactome Term Evidence
R-HSA-1430728MetabolismTAS
R-HSA-196757Metabolism of folate and pterinesTAS
R-HSA-196849Metabolism of water-soluble vitamins and cofactorsTAS
R-HSA-196854Metabolism of vitamins and cofactorsTAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID Title (Year) Author Journal
15503105Plasma homocysteine, MTHFR C677T, CBS 844ins68bp, and MTHFD1 G1958A polymorphisms in spontaneous cervical artery dissections. (2004 Oct)Konrad CJ Neurol
25304051[G894T (NOS3) and G1958A (MTHFD1) gene polymorphisms and risk of ischemic heart disease in Yucatan, Mexico]. (2015 Mar-Apr)Garcia-Gonzalez IClin Investig Arterioscler
21537707Head and neck carconogenesis: impact of MTHFD1 G1958A polymorphism. (2011 Mar-Apr)Silva LMRev Assoc Med Bras (1992)
27770044Methotrexate impact on radiographic progression in biologic-treated rheumatoid arthritis under clinical remission: A case report on monozygotic Caucasian twins. (2016 Dec)Soukup TInt J Immunopathol Pharmacol
27996298Genetic Interactions in Nonsyndromic Orofacial Clefts in Europe-EUROCRAN Study. (2017 Nov)Mossey PACleft Palate Craniofac J
18635682Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm. (2008 Nov)Giusti BJ Med Genet
17530705A clinical pharmacogenetic model to predict the efficacy of methotrexate monotherapy in recent-onset rheumatoid arthritis. (2007 Jun)Wessels JAArthritis Rheum