CleftGeneDB-Search

Gene: MTHFD1

Basic information

Tag	Content
Uniprot ID	P11586; B2R5Y2; G3V2B8; Q86VC9; Q9BVP5;
Entrez ID	4522
Genbank protein ID	AAH01014.2; AAA59574.1; AAH09806.1; BAG35279.1; AAH50420.1; EAW80857.1;
Genbank nucleotide ID	NM_005956.3
Ensembl protein ID	ENSP00000450560; ENSP00000216605;
Ensembl nucleotide ID	ENSG00000100714
Gene name	C-1-tetrahydrofolate synthase, cytoplasmic
Gene symbol	MTHFD1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	25129243; 18661527;
Functional description
Sequence	MAPAEILNGK EISAQIRARL KNQVTQLKEQ VPGFTPRLAI LQVGNRDDSN LYINVKLKAA 60 EEIGIKATHI KLPRTTTESE VMKYITSLNE DSTVHGFLVQ LPLDSENSIN TEEVINAIAP 120 EKDVDGLTSI NAGRLARGDL NDCFIPCTPK GCLELIKETG VPIAGRHAVV VGRSKIVGAP 180 MHDLLLWNNA TVTTCHSKTA HLDEEVNKGD ILVVATGQPE MVKGEWIKPG AIVIDCGINY 240 VPDDKKPNGR KVVGDVAYDE AKERASFITP VPGGVGPMTV AMLMQSTVES AKRFLEKFKP 300 GKWMIQYNNL NLKTPVPSDI DISRSCKPKP IGKLAREIGL LSEEVELYGE TKAKVLLSAL 360 ERLKHRPDGK YVVVTGITPT PLGEGKSTTT IGLVQALGAH LYQNVFACVR QPSQGPTFGI 420 KGGAAGGGYS QVIPMEEFNL HLTGDIHAIT AANNLVAAAI DARIFHELTQ TDKALFNRLV 480 PSVNGVRRFS DIQIRRLKRL GIEKTDPTTL TDEEINRFAR LDIDPETITW QRVLDTNDRF 540 LRKITIGQAP TEKGHTRTAQ FDISVASEIM AVLALTTSLE DMRERLGKMV VASSKKGEPV 600 SAEDLGVSGA LTVLMKDAIK PNLMQTLEGT PVFVHAGPFA NIAHGNSSII ADRIALKLVG 660 PEGFVVTEAG FGADIGMEKF FNIKCRYSGL CPHVVVLVAT VRALKMHGGG PTVTAGLPLP 720 KAYIQENLEL VEKGFSNLKK QIENARMFGI PVVVAVNAFK TDTESELDLI SRLSREHGAF 780 DAVKCTHWAE GGKGALALAQ AVQRAAQAPS SFQLLYDLKL PVEDKIRIIA QKIYGADDIE 840 LLPEAQHKAE VYTKQGFGNL PICMAKTHLS LSHNPEQKGV PTGFILPIRD IRASVGAGFL 900 YPLVGTMSTM PGLPTRPCFY DIDLDPETEQ VNGLF 935

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
1A4I
1DIA
1DIB
1DIG
6ECP
6ECQ
6ECR

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
MTHFD1	1958 G>A	PCR-RFLP	18661527
MTHFD1	c.1958G>A	genotyping	25129243

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
NCI-TCGA novel	p.Glu11Asp	missense variant	-	NC_000014.9:g.64388460G>T	NCI-TCGA
COSM470118	p.Ile12Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64388462T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg46Thr	missense variant	-	NC_000014.9:g.64411100G>C	NCI-TCGA
rs370444838	p.Ser49Phe	missense variant	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH)	NC_000014.9:g.64411109C>T	UniProt,dbSNP
VAR_074075	p.Ser49Phe	missense variant	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH)	NC_000014.9:g.64411109C>T	UniProt
rs1555336810	p.Leu51Pro	missense variant	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH)	NC_000014.9:g.64411115T>C	UniProt,dbSNP
VAR_080873	p.Leu51Pro	missense variant	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH)	NC_000014.9:g.64411115T>C	UniProt
NCI-TCGA novel	p.Asn54Ile	missense variant	-	NC_000014.9:g.64411124A>T	NCI-TCGA
NCI-TCGA novel	p.Leu72Ter	stop gained	-	NC_000014.9:g.64412500T>G	NCI-TCGA
COSM3497002	p.Thr76Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64412512C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser79Phe	missense variant	-	NC_000014.9:g.64412521C>T	NCI-TCGA
COSM1477686	p.Ser79Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64412521C>G	NCI-TCGA Cosmic
COSM698996	p.Met82Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64415363G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser87Cys	missense variant	-	NC_000014.9:g.64415377C>G	NCI-TCGA
NCI-TCGA novel	p.Ser92Cys	missense variant	-	NC_000014.9:g.64415392C>G	NCI-TCGA
NCI-TCGA novel	p.Val94TrpPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.64415393_64415397TACTG>-	NCI-TCGA
NCI-TCGA novel	p.Ser105Leu	missense variant	-	NC_000014.9:g.64415431C>T	NCI-TCGA
NCI-TCGA novel	p.Glu106Gln	missense variant	-	NC_000014.9:g.64415433G>C	NCI-TCGA
COSM3886204	p.Ser108Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64415440C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp123Gly	missense variant	-	NC_000014.9:g.64415485A>G	NCI-TCGA
rs1950902	p.Arg134Lys	missense variant	-	NC_000014.9:g.64415662A>G	UniProt,dbSNP
VAR_016232	p.Arg134Lys	missense variant	-	NC_000014.9:g.64415662A>G	UniProt
VAR_016232	p.Arg134Lys	Missense	-	-	UniProt
NCI-TCGA novel	p.Val171Ile	missense variant	-	NC_000014.9:g.64417920G>A	NCI-TCGA
NCI-TCGA novel	p.Leu185AlaPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.64417960_64417961insG	NCI-TCGA
NCI-TCGA novel	p.Trp187Leu	missense variant	-	NC_000014.9:g.64417969G>T	NCI-TCGA
COSM75473	p.Gly209Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64419824G>C	NCI-TCGA Cosmic
VAR_080874	p.Glu225_Phe935del	inframe_deletion	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) [MIM:617780]	-	UniProt
COSM4932774	p.Gly230Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64419887G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala231Thr	missense variant	-	NC_000014.9:g.64419889G>A	NCI-TCGA
NCI-TCGA novel	p.Pro247ThrPheSerTerUnk	frameshift	-	NC_000014.9:g.64424808_64424809insA	NCI-TCGA
NCI-TCGA novel	p.Val253Leu	missense variant	-	NC_000014.9:g.64424833G>T	NCI-TCGA
COSM433242	p.Ala261Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64424858C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu263Asp	missense variant	-	NC_000014.9:g.64424865G>C	NCI-TCGA
rs1555337681	p.Thr269Ile	missense variant	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH)	NC_000014.9:g.64424882C>T	UniProt,dbSNP
VAR_074077	p.Thr269Ile	missense variant	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH)	NC_000014.9:g.64424882C>T	UniProt
NCI-TCGA novel	p.Gln285Arg	missense variant	-	NC_000014.9:g.64424930A>G	NCI-TCGA
rs34181110	p.Arg293His	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000014.9:g.64425752G>A	UniProt,dbSNP
VAR_010241	p.Arg293His	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000014.9:g.64425752G>A	UniProt
COSM138938	p.Trp303Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.64425783G>A	NCI-TCGA Cosmic
COSM3497006	p.Lys333Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64426062A>G	NCI-TCGA Cosmic
COSM956987	p.Tyr371Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64426177A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr378Ile	missense variant	-	NC_000014.9:g.64427342C>T	NCI-TCGA
NCI-TCGA novel	p.Pro379Gln	missense variant	-	NC_000014.9:g.64427345C>A	NCI-TCGA
NCI-TCGA novel	p.Pro379Leu	missense variant	-	NC_000014.9:g.64427345C>T	NCI-TCGA
COSM3815107	p.Ser413Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64427447C>T	NCI-TCGA Cosmic
COSM3815109	p.Gln414Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.64427449C>T	NCI-TCGA Cosmic
COSM4051796	p.Gln431Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64430211A>G	NCI-TCGA Cosmic
COSM3497008	p.Met435Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64430224G>A	NCI-TCGA Cosmic
COSM3497010	p.Glu437Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64430228G>A	NCI-TCGA Cosmic
COSM4824914	p.Leu440Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64431538C>T	NCI-TCGA Cosmic
COSM1370558	p.Ala459Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64431595G>A	NCI-TCGA Cosmic
COSM3497016	p.His466Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64431616C>T	NCI-TCGA Cosmic
COSM433244	p.Phe489Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64431833T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu514Gln	missense variant	-	NC_000014.9:g.64435614G>C	NCI-TCGA
COSM433245	p.Ser564Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64440142C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val565Ala	missense variant	-	NC_000014.9:g.64440145T>C	NCI-TCGA
NCI-TCGA novel	p.Glu568CysPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.64440151_64440161GTGAAATTATG>-	NCI-TCGA
NCI-TCGA novel	p.Ile569Ser	missense variant	-	NC_000014.9:g.64440157T>G	NCI-TCGA
NCI-TCGA novel	p.Ala571Thr	missense variant	-	NC_000014.9:g.64440162G>A	NCI-TCGA
COSM3497018	p.Ala574Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64440172C>T	NCI-TCGA Cosmic
COSM1370560	p.Lys596Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64440238A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu628Asp	missense variant	-	NC_000014.9:g.64441453G>T	NCI-TCGA
COSM698992	p.Pro631Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64442060C>G	NCI-TCGA Cosmic
COSM3370024	p.Ser648Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64442112C>T	NCI-TCGA Cosmic
rs2236225	p.Arg653Gln	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000014.9:g.64442127G>A	UniProt,dbSNP
VAR_010251	p.Arg653Gln	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000014.9:g.64442127G>A	UniProt
NCI-TCGA novel	p.Glu662Ter	stop gained	-	NC_000014.9:g.64442153G>T	NCI-TCGA
NCI-TCGA novel	p.Asn682Ter	frameshift	-	NC_000014.9:g.64442303_64442304insT	NCI-TCGA
COSM1300751	p.Ile683Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64442315C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.His707Leu	missense variant	-	NC_000014.9:g.64442386A>T	NCI-TCGA
NCI-TCGA novel	p.Pro711Ser	missense variant	-	NC_000014.9:g.64442397C>T	NCI-TCGA
COSM6075942	p.Gly716Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64444703G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro720Ser	missense variant	-	NC_000014.9:g.64444714C>T	NCI-TCGA
NCI-TCGA novel	p.Gln741HisPheSerTerUnk	frameshift	-	NC_000014.9:g.64448260_64448261AA>-	NCI-TCGA
COSM3987732	p.Asn757His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64448307A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu764Lys	missense variant	-	NC_000014.9:g.64449455G>A	NCI-TCGA
NCI-TCGA novel	p.Gly778Val	missense variant	-	NC_000014.9:g.64449498G>T	NCI-TCGA
NCI-TCGA novel	p.Ala789Thr	missense variant	-	NC_000014.9:g.64449530G>A	NCI-TCGA
NCI-TCGA novel	p.Gly792AlaPheSerTerUnk	frameshift	-	NC_000014.9:g.64449536G>-	NCI-TCGA
NCI-TCGA novel	p.Ala795Thr	missense variant	-	NC_000014.9:g.64449548G>A	NCI-TCGA
NCI-TCGA novel	p.Gln846Ter	stop gained	-	NC_000014.9:g.64453832C>T	NCI-TCGA
NCI-TCGA novel	p.Lys848Gln	missense variant	-	NC_000014.9:g.64453838A>C	NCI-TCGA
NCI-TCGA novel	p.Ile862Leu	missense variant	-	NC_000014.9:g.64454741A>C	NCI-TCGA
NCI-TCGA novel	p.Pro875Ala	missense variant	-	NC_000014.9:g.64454780C>G	NCI-TCGA
NCI-TCGA novel	p.Lys878Asn	missense variant	-	NC_000014.9:g.64454791A>C	NCI-TCGA
NCI-TCGA novel	p.Gly879ValPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.64454787A>-	NCI-TCGA
NCI-TCGA novel	p.Thr882Ile	missense variant	-	NC_000014.9:g.64454802C>T	NCI-TCGA
NCI-TCGA novel	p.Phe884Ile	missense variant	-	NC_000014.9:g.64454807T>A	NCI-TCGA
COSM3987734	p.Met910Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64458224T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro917AlaPheSerTerUnk	frameshift	-	NC_000014.9:g.64458242_64458243insT	NCI-TCGA
NCI-TCGA novel	p.Glu929AspPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.64458281_64458282insC	NCI-TCGA
rs1350382413	p.Ala2Val	missense variant	-	NC_000014.9:g.64388432C>T	gnomAD
rs779025815	p.Pro3Thr	missense variant	-	NC_000014.9:g.64388434C>A	ExAC,gnomAD
rs1486413809	p.Ala4Thr	missense variant	-	NC_000014.9:g.64388437G>A	gnomAD
rs771986837	p.Lys10Arg	missense variant	-	NC_000014.9:g.64388456A>G	ExAC,gnomAD
rs1421744468	p.Lys10Ter	stop gained	-	NC_000014.9:g.64388455A>T	TOPMed,gnomAD
rs375021291	p.Ile12Leu	missense variant	-	NC_000014.9:g.64388461A>C	ESP,ExAC,TOPMed,gnomAD
rs746957800	p.Ile12Met	missense variant	-	NC_000014.9:g.64388463C>G	ExAC,gnomAD
rs1156883407	p.Ala14Thr	missense variant	-	NC_000014.9:g.64388467G>A	gnomAD
rs1156883407	p.Ala14Pro	missense variant	-	NC_000014.9:g.64388467G>C	gnomAD
rs151019303	p.Ala18Val	missense variant	-	NC_000014.9:g.64400804C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1370226156	p.Ala18Ser	missense variant	-	NC_000014.9:g.64400803G>T	gnomAD
rs769472633	p.Leu20Val	missense variant	-	NC_000014.9:g.64400809C>G	ExAC,gnomAD
rs769472633	p.Leu20Met	missense variant	-	NC_000014.9:g.64400809C>A	ExAC,gnomAD
rs1219161558	p.Asn22Asp	missense variant	-	NC_000014.9:g.64400815A>G	gnomAD
rs1299571902	p.Gln23Glu	missense variant	-	NC_000014.9:g.64400818C>G	gnomAD
rs548084343	p.Gln23Arg	missense variant	-	NC_000014.9:g.64400819A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1201820242	p.Leu27Ser	missense variant	-	NC_000014.9:g.64400831T>C	gnomAD
rs202203749	p.Lys28Asn	missense variant	-	NC_000014.9:g.64400835G>T	1000Genomes
rs770520740	p.Thr35Ile	missense variant	-	NC_000014.9:g.64400855C>T	ExAC,gnomAD
rs111509453	p.Arg37Cys	missense variant	-	NC_000014.9:g.64400860C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs905506733	p.Arg37His	missense variant	-	NC_000014.9:g.64400861G>A	TOPMed,gnomAD
rs111509453	p.Arg37Ser	missense variant	-	NC_000014.9:g.64400860C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1420265873	p.Arg46Gly	missense variant	-	NC_000014.9:g.64411099A>G	gnomAD
rs1404806244	p.Asp47Gly	missense variant	-	NC_000014.9:g.64411103A>G	gnomAD
rs370444838	p.Ser49Phe	missense variant	-	NC_000014.9:g.64411109C>T	ESP,ExAC,TOPMed,gnomAD
rs1555336810	p.Leu51Pro	missense variant	-	NC_000014.9:g.64411115T>C	-
rs1373276327	p.Asn54His	missense variant	-	NC_000014.9:g.64411123A>C	TOPMed,gnomAD
rs199580141	p.Lys56Glu	missense variant	-	NC_000014.9:g.64411129A>G	1000Genomes
rs201222323	p.Leu57Pro	missense variant	-	NC_000014.9:g.64411133T>C	1000Genomes
rs201428609	p.Lys58Arg	missense variant	-	NC_000014.9:g.64411136A>G	1000Genomes
rs79567761	p.Gly64Arg	missense variant	-	NC_000014.9:g.64412475G>A	gnomAD
rs79567761	p.Gly64Trp	missense variant	-	NC_000014.9:g.64412475G>T	gnomAD
rs770329036	p.Ile70Thr	missense variant	-	NC_000014.9:g.64412494T>C	ExAC,gnomAD
rs548975422	p.Lys71Asn	missense variant	-	NC_000014.9:g.64412498G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs766740356	p.Thr75Ser	missense variant	-	NC_000014.9:g.64412508A>T	ExAC,TOPMed,gnomAD
rs1442003297	p.Thr77Ser	missense variant	-	NC_000014.9:g.64412514A>T	gnomAD
rs774367364	p.Glu80Asp	missense variant	-	NC_000014.9:g.64412525G>C	ExAC,gnomAD
rs773648963	p.Met82Val	missense variant	-	NC_000014.9:g.64415361A>G	ExAC,gnomAD
rs1229310515	p.Lys83Thr	missense variant	-	NC_000014.9:g.64415365A>C	TOPMed
rs1327286619	p.Tyr84His	missense variant	-	NC_000014.9:g.64415367T>C	TOPMed
rs749797874	p.Ile85Thr	missense variant	-	NC_000014.9:g.64415371T>C	ExAC,gnomAD
rs771242447	p.Thr86Ile	missense variant	-	NC_000014.9:g.64415374C>T	ExAC,gnomAD
rs1417725278	p.Thr86Pro	missense variant	-	NC_000014.9:g.64415373A>C	gnomAD
rs1377383778	p.Glu90Asp	missense variant	-	NC_000014.9:g.64415387A>C	gnomAD
rs1312528186	p.Asp91Val	missense variant	-	NC_000014.9:g.64415389A>T	TOPMed
rs961052260	p.Ser92Tyr	missense variant	-	NC_000014.9:g.64415392C>A	TOPMed
rs775425863	p.His95Pro	missense variant	-	NC_000014.9:g.64415401A>C	ExAC,gnomAD
rs775425863	p.His95Arg	missense variant	-	NC_000014.9:g.64415401A>G	ExAC,gnomAD
rs1396493230	p.His95Tyr	missense variant	-	NC_000014.9:g.64415400C>T	gnomAD
rs1329424461	p.Gln100Ter	stop gained	-	NC_000014.9:g.64415415C>T	gnomAD
rs764919087	p.Glu106Ter	stop gained	-	NC_000014.9:g.64415433G>T	ExAC,gnomAD
rs1313485245	p.Ile109Val	missense variant	-	NC_000014.9:g.64415442A>G	TOPMed
rs945395304	p.Thr111Ser	missense variant	-	NC_000014.9:g.64415448A>T	TOPMed,gnomAD
rs1396799367	p.Val114Leu	missense variant	-	NC_000014.9:g.64415457G>T	TOPMed,gnomAD
rs757985878	p.Val114Ala	missense variant	-	NC_000014.9:g.64415458T>C	ExAC,TOPMed,gnomAD
rs1267246674	p.Asn116Ser	missense variant	-	NC_000014.9:g.64415464A>G	gnomAD
rs754415147	p.Ile118Met	missense variant	-	NC_000014.9:g.64415471T>G	ExAC,gnomAD
rs1186810972	p.Ile118Thr	missense variant	-	NC_000014.9:g.64415470T>C	TOPMed
rs367651399	p.Ile118Val	missense variant	-	NC_000014.9:g.64415469A>G	ESP,ExAC,TOPMed,gnomAD
rs1254034887	p.Pro120Ser	missense variant	-	NC_000014.9:g.64415475C>T	gnomAD
rs749742870	p.Glu121Lys	missense variant	-	NC_000014.9:g.64415478G>A	ExAC,gnomAD
rs1371027931	p.Val124Met	missense variant	-	NC_000014.9:g.64415487G>A	gnomAD
rs371410992	p.Leu127Ser	missense variant	-	NC_000014.9:g.64415641T>C	ESP,ExAC,TOPMed,gnomAD
rs1474060489	p.Ile130Met	missense variant	-	NC_000014.9:g.64415651C>G	TOPMed
rs375190456	p.Ile130Val	missense variant	-	NC_000014.9:g.64415649A>G	ESP,ExAC,TOPMed,gnomAD
rs565379586	p.Asn131Ser	missense variant	-	NC_000014.9:g.64415653A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs886765704	p.Ala132Gly	missense variant	-	NC_000014.9:g.64415656C>G	TOPMed
rs1950902	p.Lys134Arg	missense variant	-	NC_000014.9:g.64415662A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1020228859	p.Asn141Ser	missense variant	-	NC_000014.9:g.64415683A>G	TOPMed,gnomAD
rs967681060	p.Cys143Ser	missense variant	-	NC_000014.9:g.64415688T>A	gnomAD
rs547825945	p.Cys143Ser	missense variant	-	NC_000014.9:g.64415689G>C	1000Genomes,ExAC,gnomAD
rs967681060	p.Cys143Arg	missense variant	-	NC_000014.9:g.64415688T>C	gnomAD
rs1038238822	p.Cys147Tyr	missense variant	-	NC_000014.9:g.64415701G>A	TOPMed
rs981354891	p.Thr148Met	missense variant	-	NC_000014.9:g.64415704C>T	TOPMed,gnomAD
rs1337292374	p.Pro149Ser	missense variant	-	NC_000014.9:g.64415706C>T	TOPMed
rs1156585285	p.Glu154Lys	missense variant	-	NC_000014.9:g.64415721G>A	gnomAD
rs201817260	p.Gly160Arg	missense variant	-	NC_000014.9:g.64415739G>C	ExAC,gnomAD
rs776085756	p.Gly160Asp	missense variant	-	NC_000014.9:g.64419814G>A	ExAC,TOPMed,gnomAD
rs1291334686	p.Lys161Glu	missense variant	-	NC_000014.9:g.64419816A>G	TOPMed,gnomAD
rs1336926811	p.Lys161Ile	missense variant	-	NC_000014.9:g.64419817A>T	TOPMed,gnomAD
rs761591530	p.Ter162Tyr	stop lost	-	NC_000014.9:g.64419821A>C	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000832	Abruptio Placentae	phenotype	CTD_human
C0002395	Alzheimer's Disease	disease	BEFREE
C0002888	Anemia, Megaloblastic	disease	BEFREE
C0004352	Autistic Disorder	group	BEFREE
C0005586	Bipolar Disorder	disease	BEFREE;PSYGENET
C0007102	Malignant tumor of colon	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0008412	Choline Deficiency	disease	LHGDN
C0008925	Cleft Palate	disease	LHGDN
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009404	Colorectal Neoplasms	group	BEFREE
C0011570	Mental Depression	disease	BEFREE
C0011581	Depressive disorder	disease	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0011999	Diastematomyelia	disease	CTD_human
C0016412	Folic Acid Deficiency	disease	BEFREE
C0018798	Congenital Heart Defects	group	BEFREE
C0023449	Acute lymphocytic leukemia	disease	BEFREE
C0023452	Childhood Acute Lymphoblastic Leukemia	disease	BEFREE
C0023530	Leukopenia	disease	BEFREE
C0024117	Chronic Obstructive Airway Disease	disease	BEFREE
C0024305	Lymphoma, Non-Hodgkin	disease	BEFREE
C0025521	Inborn Errors of Metabolism	group	BEFREE
C0027794	Neural Tube Defects	group	BEFREE;CTD_human;LHGDN
C0027806	Neurenteric Cyst	disease	CTD_human
C0028754	Obesity	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0032962	Pregnancy Complications	group	BEFREE
C0036341	Schizophrenia	disease	BEFREE;LHGDN;PSYGENET
C0040034	Thrombocytopenia	phenotype	BEFREE
C0080218	Tethered Cord Syndrome	disease	CTD_human
C0085110	Severe Combined Immunodeficiency	disease	BEFREE
C0149931	Migraine Disorders	group	BEFREE
C0152234	Iniencephaly	disease	CTD_human
C0152426	Craniorachischisis	disease	CTD_human
C0154723	Migraine with Aura	disease	BEFREE
C0162871	Aortic Aneurysm, Abdominal	disease	BEFREE
C0200635	Lymphocyte Count measurement	phenotype	GWASCAT
C0206368	Exfoliation Syndrome	disease	BEFREE
C0266453	Exencephaly	disease	CTD_human
C0276496	Familial Alzheimer Disease (FAD)	disease	BEFREE
C0338480	Common Migraine	disease	BEFREE
C0344479	Spinal Cord Myelodysplasia	disease	CTD_human
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0702169	Acrania	disease	CTD_human
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1291575	Deficiency of citrate(si)-synthase	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1853238	Conotruncal defect	disease	BEFREE
C1866558	Neural tube defect, folate-sensitive	disease	CTD_human;UNIPROT
C1866559	Spina Bifida, Folate-Sensitive	disease	UNIPROT
C1960883	Spina bifida aperta of cervical spine	disease	ORPHANET
C4024948	Anterior encephalocele	disease	BEFREE
C4540434	COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA	disease	CLINVAR

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004329	formate-tetrahydrofolate ligase activity	ISS
GO:0004329	formate-tetrahydrofolate ligase activity	IDA
GO:0004329	formate-tetrahydrofolate ligase activity	IBA
GO:0004477	methenyltetrahydrofolate cyclohydrolase activity	IDA
GO:0004477	methenyltetrahydrofolate cyclohydrolase activity	IBA
GO:0004486	methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity	IDA
GO:0004487	methylenetetrahydrofolate dehydrogenase (NAD+) activity	ISS
GO:0004488	methylenetetrahydrofolate dehydrogenase (NADP+) activity	IBA
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000105	histidine biosynthetic process	IEA
GO:0001843	neural tube closure	ISS
GO:0006164	purine nucleotide biosynthetic process	ISS
GO:0006555	methionine metabolic process	ISS
GO:0006730	one-carbon metabolic process	IMP
GO:0007507	heart development	ISS
GO:0009069	serine family amino acid metabolic process	ISS
GO:0009070	serine family amino acid biosynthetic process	IMP
GO:0009086	methionine biosynthetic process	IMP
GO:0009113	purine nucleobase biosynthetic process	IBA
GO:0009257	10-formyltetrahydrofolate biosynthetic process	ISS
GO:0009257	10-formyltetrahydrofolate biosynthetic process	IDA
GO:0009257	10-formyltetrahydrofolate biosynthetic process	IBA
GO:0035999	tetrahydrofolate interconversion	ISS
GO:0035999	tetrahydrofolate interconversion	IEA
GO:0035999	tetrahydrofolate interconversion	IDA
GO:0046655	folic acid metabolic process	TAS
GO:0048702	embryonic neurocranium morphogenesis	ISS
GO:0048703	embryonic viscerocranium morphogenesis	ISS
GO:0055114	oxidation-reduction process	IEA
GO:0061053	somite development	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005737	cytoplasm	IBA
GO:0005739	mitochondrion	TAS
GO:0005829	cytosol	IDA
GO:0005829	cytosol	TAS
GO:0016020	membrane	HDA
GO:0070062	extracellular exosome	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-196757	Metabolism of folate and pterines	TAS
R-HSA-196849	Metabolism of water-soluble vitamins and cofactors	TAS
R-HSA-196854	Metabolism of vitamins and cofactors	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C036423	1-aminomethylphosphonic acid	[Herbicides co-treated with 1-aminomethylphosphonic acid] results in decreased expression of MTHFD1 mRNA	20566314
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of MTHFD1 mRNA	19114083
C078765	2,3,5-(triglutathion-S-yl)hydroquinone	2,3,5-(triglutathion-S-yl)hydroquinone results in decreased ADP-ribosylation of MTHFD1 protein	31165168
C029497	2,3-bis(3'-hydroxybenzyl)butyrolactone	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in increased expression of MTHFD1 mRNA	19167446
C459179	4-(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 dorsomorphin 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
C459179	4-(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 dorsomorphin 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
C459179	4-(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 dorsomorphin 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
D000082	Acetaminophen	Acetaminophen affects the expression of MTHFD1 mRNA	25704631
D000082	Acetaminophen	Acetaminophen results in decreased expression of MTHFD1 mRNA	29067470
D000082	Acetaminophen	Acetaminophen affects the expression of MTHFD1 mRNA	17562736
D000082	Acetaminophen	Acetaminophen results in increased expression of MTHFD1 protein	16538041
D020106	Acrylamide	Acrylamide results in increased expression of MTHFD1 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of MTHFD1 gene	27153756
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of MTHFD1 mRNA	16483693
D000661	Amphetamine	Amphetamine results in decreased expression of MTHFD1 mRNA	30779732
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of MTHFD1 mRNA	20458559
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased sumoylation of and results in increased degradation of MTHFD1 protein	28265077
D000077237	Arsenic Trioxide	benzyloxycarbonylleucyl-leucyl-leucine aldehyde inhibits the reaction [Arsenic Trioxide results in increased degradation of MTHFD1 protein]	28265077
D001280	Atrazine	Atrazine results in increased expression of MTHFD1 mRNA	25929836
D001280	Atrazine	Atrazine results in increased expression of MTHFD1 mRNA	22378314
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in decreased expression of MTHFD1 mRNA	26377693
C072553	benzyloxycarbonylleucyl-leucyl-leucine aldehyde	benzyloxycarbonylleucyl-leucyl-leucine aldehyde inhibits the reaction [Arsenic Trioxide results in increased degradation of MTHFD1 protein]	28265077
C006780	bisphenol A	bisphenol A results in increased expression of MTHFD1 mRNA	25181051
C013418	bromfenacoum	bromfenacoum results in increased expression of MTHFD1 protein	28903499
D002065	Buspirone	Buspirone results in decreased expression of MTHFD1 mRNA	24136188
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of MTHFD1 mRNA	17484886
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of MTHFD1 mRNA	27339419
D002794	Choline	MTHFD1 gene SNP affects the susceptibility to Choline	17616785
D002794	Choline	[Choline deficiency co-treated with Folic Acid deficiency] affects the expression of MTHFD1 mRNA	23439872
D002794	Choline	[Choline deficiency co-treated with Folic Acid deficiency] inhibits the reaction [CEBPB protein binds to MTHFD1 promoter]	23439872
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of MTHFD1 mRNA	20938992
C074702	chromium hexavalent ion	chromium hexavalent ion affects the expression of MTHFD1 mRNA	28472532
D002945	Cisplatin	Cisplatin affects the expression of MTHFD1 mRNA	23300844
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of MTHFD1 mRNA	19320972; 19376846;
D003300	Copper	[NSC 689534 binds to Copper] which results in decreased expression of MTHFD1 mRNA	20971185
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of MTHFD1 mRNA	19549813
D003375	Coumestrol	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in increased expression of MTHFD1 mRNA	19167446
D003375	Coumestrol	[Coumestrol co-treated with Resveratrol] results in increased expression of MTHFD1 mRNA	19167446
D003375	Coumestrol	Coumestrol results in increased expression of MTHFD1 mRNA	19167446
D003471	Cuprizone	Cuprizone results in increased expression of MTHFD1 mRNA	26577399
D016572	Cyclosporine	Cyclosporine results in decreased expression of MTHFD1 mRNA	20106945; 25562108;
D000077209	Decitabine	Decitabine affects the expression of MTHFD1 mRNA	23300844
D000077209	Decitabine	Decitabine results in increased expression of MTHFD1 mRNA	15251184
D000077209	Decitabine	[Tetrachlorodibenzodioxin co-treated with Decitabine] results in increased expression of MTHFD1 mRNA	15251184
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of MTHFD1 mRNA	17361019; 21266533;
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of MTHFD1 mRNA	21266533
D004178	Diquat	Diquat results in increased expression of MTHFD1 mRNA	16488489
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin 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	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin 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	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin 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
D004317	Doxorubicin	Doxorubicin affects the expression of MTHFD1 protein	29385562
D004317	Doxorubicin	Doxorubicin results in decreased expression of MTHFD1 mRNA	29803840
D013759	Dronabinol	Dronabinol affects the methylation of MTHFD1 gene	26044905
C118739	entinostat	entinostat results in increased expression of MTHFD1 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin 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
D004791	Enzyme Inhibitors	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of MTHFD1 protein	23301498
D004958	Estradiol	Estradiol results in decreased expression of MTHFD1 mRNA	16705744
D004958	Estradiol	Estradiol results in increased expression of MTHFD1 mRNA	19167446
D000431	Ethanol	Ethanol affects the splicing of MTHFD1 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of MTHFD1 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of MTHFD1 mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of MTHFD1 mRNA	23129252
C540355	fenamidone	fenamidone results in increased expression of MTHFD1 mRNA	27029645
D017313	Fenretinide	Fenretinide results in decreased expression of MTHFD1 mRNA	28973697
D005492	Folic Acid	[Choline deficiency co-treated with Folic Acid deficiency] affects the expression of MTHFD1 mRNA	23439872
D005492	Folic Acid	[Choline deficiency co-treated with Folic Acid deficiency] inhibits the reaction [CEBPB protein binds to MTHFD1 promoter]	23439872
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of MTHFD1 mRNA	20938992
D019833	Genistein	Genistein results in decreased expression of MTHFD1 mRNA	16705744
D005897	Glafenine	Glafenine results in decreased expression of MTHFD1 mRNA	24136188
C000593030	GSK-J4	GSK-J4 results in decreased expression of MTHFD1 mRNA	29301935
D006540	Herbicides	[Herbicides co-treated with 1-aminomethylphosphonic acid] results in decreased expression of MTHFD1 mRNA	20566314
C031927	hydroquinone	hydroquinone results in decreased expression of MTHFD1 mRNA	31256213
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of MTHFD1 mRNA	25613284
C410337	K 7174	K 7174 results in decreased expression of MTHFD1 mRNA	24086573
D007854	Lead	Lead results in decreased expression of MTHFD1 mRNA	19921347
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of MTHFD1 mRNA	20938992
D008727	Methotrexate	MTHFD1 gene polymorphism affects the susceptibility to Methotrexate	17530705
C004925	methylmercuric chloride	methylmercuric chloride affects the expression of MTHFD1 protein	27012723
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of MTHFD1 mRNA	23649840
C043243	methyl tert-butyl ether	methyl tert-butyl ether affects the expression of MTHFD1 mRNA	24128854
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of MTHFD1 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of MTHFD1 mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of MTHFD1 mRNA	25554681
C017096	n-butoxyethanol	n-butoxyethanol results in increased expression of MTHFD1 mRNA	19812364
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in decreased expression of MTHFD1 mRNA	20971185
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in decreased expression of MTHFD1 mRNA	25729387
D000077150	Oxaliplatin	Oxaliplatin results in decreased expression of MTHFD1 mRNA	25729387
D010100	Oxygen	Oxygen deficiency results in decreased expression of MTHFD1 mRNA	26516004
D010100	Oxygen	Oxygen deficiency results in decreased expression of MTHFD1 mRNA	22629407
D010100	Oxygen	Oxygen inhibits the reaction [Oxygen deficiency results in decreased expression of MTHFD1 mRNA]	22629407
D010634	Phenobarbital	Phenobarbital results in increased expression of MTHFD1 mRNA	19162173
C006253	pirinixic acid	pirinixic acid results in decreased expression of MTHFD1 mRNA	17426115; 18445702;
D010936	Plant Extracts	Plant Extracts results in increased expression of MTHFD1 mRNA	23557933
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in increased expression of MTHFD1 mRNA	19162173
D000077185	Resveratrol	[Coumestrol co-treated with Resveratrol] results in increased expression of MTHFD1 mRNA	19167446
D012402	Rotenone	Rotenone results in increased expression of MTHFD1 mRNA	29955902
D012402	Rotenone	Rotenone results in increased expression of MTHFD1 mRNA	28374803
D012436	S-Adenosylmethionine	MTHFD1 protein results in increased abundance of S-Adenosylmethionine	19033438
C017947	sodium arsenite	sodium arsenite results in increased expression of MTHFD1 protein	29459688
D000077210	Sunitinib	Sunitinib results in decreased expression of MTHFD1 mRNA	31533062
C446685	systhane	systhane results in decreased expression of MTHFD1 mRNA	16730040
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of MTHFD1 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Decitabine] results in increased expression of MTHFD1 mRNA	15251184
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of MTHFD1 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of MTHFD1 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of MTHFD1 mRNA	20959002; 21215274;
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of MTHFD1 mRNA	25613284
D019284	Thapsigargin	Thapsigargin results in decreased expression of MTHFD1 mRNA	22378314
D019284	Thapsigargin	Thapsigargin results in increased expression of MTHFD1 protein	24648495
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of MTHFD1 mRNA	28065790
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of MTHFD1 protein	22609517
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in decreased expression of MTHFD1 mRNA	25729387
D019772	Topotecan	Topotecan results in decreased expression of MTHFD1 mRNA	25729387
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin 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
C012589	trichostatin A	trichostatin A results in increased expression of MTHFD1 mRNA	24935251; 26272509;
D014260	Triclosan	Triclosan results in decreased expression of MTHFD1 protein	30219713
D014260	Triclosan	Triclosan results in increased expression of MTHFD1 protein	30219713
C015559	trimellitic anhydride	trimellitic anhydride results in increased expression of MTHFD1 mRNA	19042947
D014415	Tunicamycin	Tunicamycin results in decreased expression of MTHFD1 mRNA	22378314
D014520	Urethane	Urethane results in decreased expression of MTHFD1 mRNA	28818685
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin 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
D014635	Valproic Acid	Valproic Acid affects the expression of MTHFD1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of MTHFD1 mRNA	23179753; 24383497; 24935251; 26272509;
D014640	Vancomycin	Vancomycin results in increased expression of MTHFD1 mRNA	18930951
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of MTHFD1 mRNA	26682919
D024483	Vitamin K 3	Vitamin K 3 affects the expression of MTHFD1 mRNA	20044591
D000077337	Vorinostat	Vorinostat results in decreased expression of MTHFD1 mRNA	27188386
D019287	Zinc Sulfate	Zinc Sulfate results in decreased expression of MTHFD1 mRNA	12756304

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0028	Amino-acid biosynthesis
KW-0067	ATP-binding
KW-0963	Cytoplasm
KW-0903	Direct protein sequencing
KW-0225	Disease mutation
KW-0368	Histidine biosynthesis
KW-0378	Hydrolase
KW-0436	Ligase
KW-0486	Methionine biosynthesis
KW-0511	Multifunctional enzyme
KW-0521	NADP
KW-0547	Nucleotide-binding
KW-0554	One-carbon metabolism
KW-0560	Oxidoreductase
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0658	Purine biosynthesis
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR000559	Formate_THF_ligase
IPR020628	Formate_THF_ligase_CS
IPR036291	NAD(P)-bd_dom_sf
IPR027417	P-loop_NTPase
IPR000672	THF_DH/CycHdrlase
IPR020630	THF_DH/CycHdrlase_cat_dom
IPR020867	THF_DH/CycHdrlase_CS
IPR020631	THF_DH/CycHdrlase_NAD-bd_dom

PROSITE

PROSITE ID	PROSITE Term
PS00721	FTHFS_1
PS00722	FTHFS_2
PS00766	THF_DHG_CYH_1
PS00767	THF_DHG_CYH_2

Pfam

Pfam ID	Pfam Term
PF01268	FTHFS
PF00763	THF_DHG_CYH
PF02882	THF_DHG_CYH_C

Gene: MTHFD1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction