Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4522
Gene name	Methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
Gene symbol	MTHFD1
Synonyms (NCBI Gene)	CIMAHMTHFCMTHFD
Chromosome	14
Chromosome location	14q23.3
Summary	This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of

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SNP ID	Visualize variation	Clinical significance	Consequence
rs2236225	G>A	Benign, risk-factor	Coding sequence variant, missense variant
rs34181110	G>A	Likely-benign, risk-factor	Coding sequence variant, missense variant
rs141210410	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs370444838	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs760889414	G>T	Pathogenic	Stop gained, coding sequence variant
rs781065280	G>A	Pathogenic	Splice donor variant
rs1329424461	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1456143398	G>A	Pathogenic	Coding sequence variant, synonymous variant
rs1555336810	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555337681	C>T	Likely-pathogenic	Coding sequence variant, missense variant

303

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016506	hsa-miR-193b-3p	Proteomics	21512034
MIRT052561	hsa-let-7a-5p	CLASH	23622248
MIRT050788	hsa-miR-17-3p	CLASH	23622248
MIRT044374	hsa-miR-106b-5p	CLASH	23622248
MIRT043098	hsa-miR-324-5p	CLASH	23622248
MIRT037507	hsa-miR-744-5p	CLASH	23622248
MIRT037267	hsa-miR-877-5p	CLASH	23622248
MIRT438747	hsa-miR-197-3p	Luciferase reporter assayqRT-PCRWestern blot	24123340
MIRT438746	hsa-miR-9-5p	Luciferase reporter assayqRT-PCRWestern blot	24123340
MIRT438747	hsa-miR-197-3p	Luciferase reporter assayqRT-PCRWestern blot	24123340
MIRT438746	hsa-miR-9-5p	Luciferase reporter assayqRT-PCRWestern blot	24123340
MIRT701737	hsa-miR-34b-3p	HITS-CLIP	23313552
MIRT701736	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT701735	hsa-miR-6840-3p	HITS-CLIP	23313552
MIRT701734	hsa-miR-377-5p	HITS-CLIP	23313552
MIRT701733	hsa-miR-6086	HITS-CLIP	23313552
MIRT532585	hsa-miR-6499-3p	HITS-CLIP	23313552
MIRT701732	hsa-miR-139-3p	HITS-CLIP	23313552
MIRT532584	hsa-miR-455-3p	HITS-CLIP	23313552
MIRT532583	hsa-miR-6516-5p	HITS-CLIP	23313552
MIRT701731	hsa-miR-1273e	HITS-CLIP	23313552
MIRT683168	hsa-miR-548a-5p	HITS-CLIP	23706177
MIRT683167	hsa-miR-548ab	HITS-CLIP	23706177
MIRT683166	hsa-miR-548ad-5p	HITS-CLIP	23706177
MIRT683165	hsa-miR-548ae-5p	HITS-CLIP	23706177
MIRT683164	hsa-miR-548ak	HITS-CLIP	23706177
MIRT683163	hsa-miR-548am-5p	HITS-CLIP	23706177
MIRT683162	hsa-miR-548ap-5p	HITS-CLIP	23706177
MIRT683161	hsa-miR-548aq-5p	HITS-CLIP	23706177
MIRT683160	hsa-miR-548ar-5p	HITS-CLIP	23706177
MIRT683159	hsa-miR-548as-5p	HITS-CLIP	23706177
MIRT683158	hsa-miR-548au-5p	HITS-CLIP	23706177
MIRT683157	hsa-miR-548ay-5p	HITS-CLIP	23706177
MIRT683156	hsa-miR-548b-5p	HITS-CLIP	23706177
MIRT683155	hsa-miR-548bb-5p	HITS-CLIP	23706177
MIRT683154	hsa-miR-548c-5p	HITS-CLIP	23706177
MIRT683153	hsa-miR-548d-5p	HITS-CLIP	23706177
MIRT683152	hsa-miR-548h-5p	HITS-CLIP	23706177
MIRT683151	hsa-miR-548i	HITS-CLIP	23706177
MIRT683150	hsa-miR-548j-5p	HITS-CLIP	23706177
MIRT683149	hsa-miR-548o-5p	HITS-CLIP	23706177
MIRT683148	hsa-miR-548w	HITS-CLIP	23706177
MIRT683147	hsa-miR-548y	HITS-CLIP	23706177
MIRT683146	hsa-miR-559	HITS-CLIP	23706177
MIRT683145	hsa-miR-548aj-5p	HITS-CLIP	23706177
MIRT683144	hsa-miR-548f-5p	HITS-CLIP	23706177
MIRT683143	hsa-miR-548g-5p	HITS-CLIP	23706177
MIRT683142	hsa-miR-548x-5p	HITS-CLIP	23706177
MIRT683141	hsa-miR-1468-3p	HITS-CLIP	23706177
MIRT683140	hsa-miR-19a-3p	HITS-CLIP	23706177
MIRT683139	hsa-miR-19b-3p	HITS-CLIP	23706177
MIRT443780	hsa-miR-203a-5p	HITS-CLIP	23706177
MIRT443779	hsa-miR-1273g-5p	HITS-CLIP	23706177
MIRT683138	hsa-miR-548aw	HITS-CLIP	23706177
MIRT443778	hsa-miR-2681-5p	HITS-CLIP	23706177
MIRT443777	hsa-miR-548ag	HITS-CLIP	23706177
MIRT683137	hsa-miR-548q	HITS-CLIP	23706177
MIRT627069	hsa-miR-3713	HITS-CLIP	23824327
MIRT627068	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT627067	hsa-miR-4455	HITS-CLIP	23824327
MIRT627066	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT532589	hsa-miR-4999-3p	PAR-CLIP	22012620
MIRT532588	hsa-miR-3160-3p	PAR-CLIP	22012620
MIRT532587	hsa-miR-558	PAR-CLIP	22012620
MIRT532586	hsa-miR-4487	PAR-CLIP	22012620
MIRT532585	hsa-miR-6499-3p	PAR-CLIP	22012620
MIRT532584	hsa-miR-455-3p	PAR-CLIP	22012620
MIRT532583	hsa-miR-6516-5p	PAR-CLIP	22012620
MIRT443781	hsa-miR-4714-3p	PAR-CLIP	22100165
MIRT443780	hsa-miR-203a-5p	PAR-CLIP	22100165
MIRT443779	hsa-miR-1273g-5p	PAR-CLIP	22100165
MIRT443778	hsa-miR-2681-5p	PAR-CLIP	22100165
MIRT443777	hsa-miR-548ag	PAR-CLIP	22100165
MIRT701731	hsa-miR-1273e	PAR-CLIP	27292025
MIRT701732	hsa-miR-139-3p	PAR-CLIP	27292025
MIRT701734	hsa-miR-377-5p	PAR-CLIP	27292025
MIRT701736	hsa-miR-4768-3p	PAR-CLIP	27292025
MIRT701733	hsa-miR-6086	PAR-CLIP	27292025
MIRT701735	hsa-miR-6840-3p	PAR-CLIP	27292025
MIRT701737	hsa-miR-34b-3p	HITS-CLIP	23313552
MIRT701736	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT701735	hsa-miR-6840-3p	HITS-CLIP	23313552
MIRT701734	hsa-miR-377-5p	HITS-CLIP	23313552
MIRT701733	hsa-miR-6086	HITS-CLIP	23313552
MIRT532585	hsa-miR-6499-3p	HITS-CLIP	23313552
MIRT701732	hsa-miR-139-3p	HITS-CLIP	23313552
MIRT532584	hsa-miR-455-3p	HITS-CLIP	23313552
MIRT532583	hsa-miR-6516-5p	HITS-CLIP	23313552
MIRT701731	hsa-miR-1273e	HITS-CLIP	23313552
MIRT683168	hsa-miR-548a-5p	HITS-CLIP	23706177
MIRT683167	hsa-miR-548ab	HITS-CLIP	23706177
MIRT683166	hsa-miR-548ad-5p	HITS-CLIP	23706177
MIRT683165	hsa-miR-548ae-5p	HITS-CLIP	23706177
MIRT683164	hsa-miR-548ak	HITS-CLIP	23706177
MIRT683163	hsa-miR-548am-5p	HITS-CLIP	23706177
MIRT683162	hsa-miR-548ap-5p	HITS-CLIP	23706177
MIRT683161	hsa-miR-548aq-5p	HITS-CLIP	23706177
MIRT683160	hsa-miR-548ar-5p	HITS-CLIP	23706177
MIRT683159	hsa-miR-548as-5p	HITS-CLIP	23706177
MIRT683158	hsa-miR-548au-5p	HITS-CLIP	23706177
MIRT683157	hsa-miR-548ay-5p	HITS-CLIP	23706177
MIRT683156	hsa-miR-548b-5p	HITS-CLIP	23706177
MIRT683155	hsa-miR-548bb-5p	HITS-CLIP	23706177
MIRT683154	hsa-miR-548c-5p	HITS-CLIP	23706177
MIRT683153	hsa-miR-548d-5p	HITS-CLIP	23706177
MIRT683152	hsa-miR-548h-5p	HITS-CLIP	23706177
MIRT683151	hsa-miR-548i	HITS-CLIP	23706177
MIRT683150	hsa-miR-548j-5p	HITS-CLIP	23706177
MIRT683149	hsa-miR-548o-5p	HITS-CLIP	23706177
MIRT683148	hsa-miR-548w	HITS-CLIP	23706177
MIRT683147	hsa-miR-548y	HITS-CLIP	23706177
MIRT683146	hsa-miR-559	HITS-CLIP	23706177
MIRT683145	hsa-miR-548aj-5p	HITS-CLIP	23706177
MIRT683144	hsa-miR-548f-5p	HITS-CLIP	23706177
MIRT683143	hsa-miR-548g-5p	HITS-CLIP	23706177
MIRT683142	hsa-miR-548x-5p	HITS-CLIP	23706177
MIRT683141	hsa-miR-1468-3p	HITS-CLIP	23706177
MIRT683140	hsa-miR-19a-3p	HITS-CLIP	23706177
MIRT683139	hsa-miR-19b-3p	HITS-CLIP	23706177
MIRT443780	hsa-miR-203a-5p	HITS-CLIP	23706177
MIRT443779	hsa-miR-1273g-5p	HITS-CLIP	23706177
MIRT683138	hsa-miR-548aw	HITS-CLIP	23706177
MIRT443778	hsa-miR-2681-5p	HITS-CLIP	23706177
MIRT443777	hsa-miR-548ag	HITS-CLIP	23706177
MIRT683137	hsa-miR-548q	HITS-CLIP	23706177
MIRT627069	hsa-miR-3713	HITS-CLIP	23824327
MIRT627068	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT627067	hsa-miR-4455	HITS-CLIP	23824327
MIRT627066	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT532589	hsa-miR-4999-3p	PAR-CLIP	22012620
MIRT532588	hsa-miR-3160-3p	PAR-CLIP	22012620
MIRT532587	hsa-miR-558	PAR-CLIP	22012620
MIRT532586	hsa-miR-4487	PAR-CLIP	22012620
MIRT532585	hsa-miR-6499-3p	PAR-CLIP	22012620
MIRT532584	hsa-miR-455-3p	PAR-CLIP	22012620
MIRT532583	hsa-miR-6516-5p	PAR-CLIP	22012620
MIRT443781	hsa-miR-4714-3p	PAR-CLIP	22100165
MIRT443780	hsa-miR-203a-5p	PAR-CLIP	22100165
MIRT443779	hsa-miR-1273g-5p	PAR-CLIP	22100165
MIRT443778	hsa-miR-2681-5p	PAR-CLIP	22100165
MIRT443777	hsa-miR-548ag	PAR-CLIP	22100165
MIRT1163110	hsa-miR-1207-5p	CLIP-seq
MIRT1163111	hsa-miR-1272	CLIP-seq
MIRT1163112	hsa-miR-1285	CLIP-seq
MIRT1163113	hsa-miR-1909	CLIP-seq
MIRT1163114	hsa-miR-193a-3p	CLIP-seq
MIRT1163115	hsa-miR-193b	CLIP-seq
MIRT1163116	hsa-miR-2053	CLIP-seq
MIRT1163117	hsa-miR-2110	CLIP-seq
MIRT1163118	hsa-miR-2861	CLIP-seq
MIRT1163119	hsa-miR-30a	CLIP-seq
MIRT1163120	hsa-miR-30b	CLIP-seq
MIRT1163121	hsa-miR-30c	CLIP-seq
MIRT1163122	hsa-miR-30d	CLIP-seq
MIRT1163123	hsa-miR-30e	CLIP-seq
MIRT1163124	hsa-miR-3134	CLIP-seq
MIRT1163125	hsa-miR-3182	CLIP-seq
MIRT1163126	hsa-miR-3190	CLIP-seq
MIRT1163127	hsa-miR-3662	CLIP-seq
MIRT1163128	hsa-miR-3942-3p	CLIP-seq
MIRT1163129	hsa-miR-3973	CLIP-seq
MIRT1163130	hsa-miR-4271	CLIP-seq
MIRT1163131	hsa-miR-4314	CLIP-seq
MIRT1163132	hsa-miR-4426	CLIP-seq
MIRT1163133	hsa-miR-4427	CLIP-seq
MIRT1163134	hsa-miR-4435	CLIP-seq
MIRT1163135	hsa-miR-4470	CLIP-seq
MIRT1163136	hsa-miR-4635	CLIP-seq
MIRT1163137	hsa-miR-4647	CLIP-seq
MIRT1163138	hsa-miR-4656	CLIP-seq
MIRT1163139	hsa-miR-4662b	CLIP-seq
MIRT1163140	hsa-miR-4667-5p	CLIP-seq
MIRT1163141	hsa-miR-4699-5p	CLIP-seq
MIRT1163142	hsa-miR-4700-5p	CLIP-seq
MIRT1163143	hsa-miR-4709-3p	CLIP-seq
MIRT1163144	hsa-miR-4725-3p	CLIP-seq
MIRT1163145	hsa-miR-4753-3p	CLIP-seq
MIRT1163146	hsa-miR-4763-3p	CLIP-seq
MIRT1163147	hsa-miR-4764-3p	CLIP-seq
MIRT1163148	hsa-miR-4775	CLIP-seq
MIRT1163149	hsa-miR-4778-5p	CLIP-seq
MIRT1163150	hsa-miR-4789-5p	CLIP-seq
MIRT1163151	hsa-miR-499a-5p	CLIP-seq
MIRT1163152	hsa-miR-520g	CLIP-seq
MIRT1163153	hsa-miR-520h	CLIP-seq
MIRT1163154	hsa-miR-526b	CLIP-seq
MIRT1163155	hsa-miR-548h	CLIP-seq
MIRT1163156	hsa-miR-548j	CLIP-seq
MIRT1163157	hsa-miR-548k	CLIP-seq
MIRT1163158	hsa-miR-548l	CLIP-seq
MIRT1163159	hsa-miR-562	CLIP-seq
MIRT1163160	hsa-miR-569	CLIP-seq
MIRT1163161	hsa-miR-607	CLIP-seq
MIRT1163162	hsa-miR-617	CLIP-seq
MIRT1163163	hsa-miR-637	CLIP-seq
MIRT1163164	hsa-miR-942	CLIP-seq
MIRT2046856	hsa-miR-1193	CLIP-seq
MIRT1163110	hsa-miR-1207-5p	CLIP-seq
MIRT1163111	hsa-miR-1272	CLIP-seq
MIRT1163112	hsa-miR-1285	CLIP-seq
MIRT1163113	hsa-miR-1909	CLIP-seq
MIRT1163114	hsa-miR-193a-3p	CLIP-seq
MIRT1163115	hsa-miR-193b	CLIP-seq
MIRT1163116	hsa-miR-2053	CLIP-seq
MIRT1163117	hsa-miR-2110	CLIP-seq
MIRT1163118	hsa-miR-2861	CLIP-seq
MIRT1163119	hsa-miR-30a	CLIP-seq
MIRT1163120	hsa-miR-30b	CLIP-seq
MIRT1163121	hsa-miR-30c	CLIP-seq
MIRT1163122	hsa-miR-30d	CLIP-seq
MIRT1163123	hsa-miR-30e	CLIP-seq
MIRT1163124	hsa-miR-3134	CLIP-seq
MIRT1163125	hsa-miR-3182	CLIP-seq
MIRT1163126	hsa-miR-3190	CLIP-seq
MIRT2046857	hsa-miR-3647-3p	CLIP-seq
MIRT1163127	hsa-miR-3662	CLIP-seq
MIRT2046858	hsa-miR-3929	CLIP-seq
MIRT1163128	hsa-miR-3942-3p	CLIP-seq
MIRT1163129	hsa-miR-3973	CLIP-seq
MIRT1163130	hsa-miR-4271	CLIP-seq
MIRT1163131	hsa-miR-4314	CLIP-seq
MIRT2046859	hsa-miR-4419b	CLIP-seq
MIRT1163132	hsa-miR-4426	CLIP-seq
MIRT1163133	hsa-miR-4427	CLIP-seq
MIRT1163134	hsa-miR-4435	CLIP-seq
MIRT2046860	hsa-miR-4478	CLIP-seq
MIRT1163136	hsa-miR-4635	CLIP-seq
MIRT1163137	hsa-miR-4647	CLIP-seq
MIRT1163138	hsa-miR-4656	CLIP-seq
MIRT1163139	hsa-miR-4662b	CLIP-seq
MIRT1163140	hsa-miR-4667-5p	CLIP-seq
MIRT1163141	hsa-miR-4699-5p	CLIP-seq
MIRT1163142	hsa-miR-4700-5p	CLIP-seq
MIRT1163143	hsa-miR-4709-3p	CLIP-seq
MIRT1163144	hsa-miR-4725-3p	CLIP-seq
MIRT1163145	hsa-miR-4753-3p	CLIP-seq
MIRT1163146	hsa-miR-4763-3p	CLIP-seq
MIRT1163148	hsa-miR-4775	CLIP-seq
MIRT1163149	hsa-miR-4778-5p	CLIP-seq
MIRT1163150	hsa-miR-4789-5p	CLIP-seq
MIRT1163151	hsa-miR-499a-5p	CLIP-seq
MIRT1163152	hsa-miR-520g	CLIP-seq
MIRT1163153	hsa-miR-520h	CLIP-seq
MIRT1163154	hsa-miR-526b	CLIP-seq
MIRT1163155	hsa-miR-548h	CLIP-seq
MIRT1163156	hsa-miR-548j	CLIP-seq
MIRT1163157	hsa-miR-548k	CLIP-seq
MIRT1163158	hsa-miR-548l	CLIP-seq
MIRT1163159	hsa-miR-562	CLIP-seq
MIRT1163160	hsa-miR-569	CLIP-seq
MIRT2046861	hsa-miR-580	CLIP-seq
MIRT1163161	hsa-miR-607	CLIP-seq
MIRT1163162	hsa-miR-617	CLIP-seq
MIRT1163163	hsa-miR-637	CLIP-seq
MIRT1163164	hsa-miR-942	CLIP-seq
MIRT1163110	hsa-miR-1207-5p	CLIP-seq
MIRT1163111	hsa-miR-1272	CLIP-seq
MIRT1163112	hsa-miR-1285	CLIP-seq
MIRT1163113	hsa-miR-1909	CLIP-seq
MIRT1163114	hsa-miR-193a-3p	CLIP-seq
MIRT1163115	hsa-miR-193b	CLIP-seq
MIRT1163116	hsa-miR-2053	CLIP-seq
MIRT1163119	hsa-miR-30a	CLIP-seq
MIRT1163120	hsa-miR-30b	CLIP-seq
MIRT1163121	hsa-miR-30c	CLIP-seq
MIRT1163122	hsa-miR-30d	CLIP-seq
MIRT1163123	hsa-miR-30e	CLIP-seq
MIRT1163124	hsa-miR-3134	CLIP-seq
MIRT1163125	hsa-miR-3182	CLIP-seq
MIRT1163126	hsa-miR-3190	CLIP-seq
MIRT2046858	hsa-miR-3929	CLIP-seq
MIRT1163129	hsa-miR-3973	CLIP-seq
MIRT1163131	hsa-miR-4314	CLIP-seq
MIRT2046859	hsa-miR-4419b	CLIP-seq
MIRT1163132	hsa-miR-4426	CLIP-seq
MIRT1163134	hsa-miR-4435	CLIP-seq
MIRT2046860	hsa-miR-4478	CLIP-seq
MIRT1163136	hsa-miR-4635	CLIP-seq
MIRT1163137	hsa-miR-4647	CLIP-seq
MIRT1163138	hsa-miR-4656	CLIP-seq
MIRT1163139	hsa-miR-4662b	CLIP-seq
MIRT1163141	hsa-miR-4699-5p	CLIP-seq
MIRT1163143	hsa-miR-4709-3p	CLIP-seq
MIRT1163146	hsa-miR-4763-3p	CLIP-seq
MIRT1163148	hsa-miR-4775	CLIP-seq
MIRT1163149	hsa-miR-4778-5p	CLIP-seq
MIRT1163150	hsa-miR-4789-5p	CLIP-seq
MIRT1163151	hsa-miR-499a-5p	CLIP-seq
MIRT1163152	hsa-miR-520g	CLIP-seq
MIRT1163153	hsa-miR-520h	CLIP-seq
MIRT1163154	hsa-miR-526b	CLIP-seq
MIRT1163155	hsa-miR-548h	CLIP-seq
MIRT1163156	hsa-miR-548j	CLIP-seq
MIRT1163157	hsa-miR-548k	CLIP-seq
MIRT1163158	hsa-miR-548l	CLIP-seq
MIRT1163159	hsa-miR-562	CLIP-seq
MIRT1163160	hsa-miR-569	CLIP-seq
MIRT2046861	hsa-miR-580	CLIP-seq
MIRT1163161	hsa-miR-607	CLIP-seq
MIRT1163162	hsa-miR-617	CLIP-seq
MIRT1163116	hsa-miR-2053	CLIP-seq
MIRT1163148	hsa-miR-4775	CLIP-seq
MIRT1163160	hsa-miR-569	CLIP-seq

Show/Hide all (57)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001780	Process	Neutrophil homeostasis	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0001843	Process	Neural tube closure	ISS
GO:0003824	Function	Catalytic activity	IEA
GO:0004329	Function	Formate-tetrahydrofolate ligase activity	IDA	1881876, 18767138
GO:0004329	Function	Formate-tetrahydrofolate ligase activity	IEA
GO:0004329	Function	Formate-tetrahydrofolate ligase activity	IMP	25633902
GO:0004329	Function	Formate-tetrahydrofolate ligase activity	ISS
GO:0004477	Function	Methenyltetrahydrofolate cyclohydrolase activity	IBA
GO:0004477	Function	Methenyltetrahydrofolate cyclohydrolase activity	IDA	1881876, 10828945
GO:0004477	Function	Methenyltetrahydrofolate cyclohydrolase activity	IEA
GO:0004487	Function	Methylenetetrahydrofolate dehydrogenase (NAD+) activity	IEA
GO:0004488	Function	Methylenetetrahydrofolate dehydrogenase (NADP+) activity	IBA
GO:0004488	Function	Methylenetetrahydrofolate dehydrogenase (NADP+) activity	IDA	1881876, 10828945, 18767138
GO:0004488	Function	Methylenetetrahydrofolate dehydrogenase (NADP+) activity	IEA
GO:0005515	Function	Protein binding	IPI	24169621
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	TAS	3528153
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006164	Process	Purine nucleotide biosynthetic process	IEA
GO:0006164	Process	Purine nucleotide biosynthetic process	IMP	18767138
GO:0006164	Process	Purine nucleotide biosynthetic process	ISS
GO:0006555	Process	Methionine metabolic process	IEA
GO:0006555	Process	Methionine metabolic process	IEA
GO:0006555	Process	Methionine metabolic process	ISS
GO:0006730	Process	One-carbon metabolic process	IEA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0009069	Process	Serine family amino acid metabolic process	IEA
GO:0009086	Process	Methionine biosynthetic process	IMP	25633902
GO:0009152	Process	Purine ribonucleotide biosynthetic process	IEA
GO:0009257	Process	10-formyltetrahydrofolate biosynthetic process	IDA	1881876
GO:0009257	Process	10-formyltetrahydrofolate biosynthetic process	IEA
GO:0009257	Process	10-formyltetrahydrofolate biosynthetic process	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0019346	Process	Transsulfuration	IEA
GO:0035999	Process	Tetrahydrofolate interconversion	IBA
GO:0035999	Process	Tetrahydrofolate interconversion	IDA	1881876, 10828945
GO:0035999	Process	Tetrahydrofolate interconversion	IEA
GO:0035999	Process	Tetrahydrofolate interconversion	ISS
GO:0046655	Process	Folic acid metabolic process	IEA
GO:0046655	Process	Folic acid metabolic process	IMP	25633902
GO:0046655	Process	Folic acid metabolic process	ISS
GO:0048702	Process	Embryonic neurocranium morphogenesis	ISS
GO:0048703	Process	Embryonic viscerocranium morphogenesis	ISS
GO:0061053	Process	Somite development	IEA
GO:0061053	Process	Somite development	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145

MIM	HGNC	e!Ensembl
172460	7432	ENSG00000100714

P11586

Protein name

C-1-tetrahydrofolate synthase, cytoplasmic (C1-THF synthase) (Epididymis secretory sperm binding protein) [Cleaved into: C-1-tetrahydrofolate synthase, cytoplasmic, N-terminally processed] [Includes: Methylenetetrahydrofolate dehydrogenase (EC 1.5.1.5); M

Protein function

Trifunctional enzyme that catalyzes the interconversion of three forms of one-carbon-substituted tetrahydrofolate: (6R)-5,10-methylene-5,6,7,8-tetrahydrofolate, 5,10-methenyltetrahydrofolate and (6S)-10-formyltetrahydrofolate (PubMed:10828945, P

PDB

1A4I , 1DIA , 1DIB , 1DIG , 6ECP , 6ECQ , 6ECR , 9ISE , 9ISL , 9ISR , 9ITD , 9IUO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00763	THF_DHG_CYH	6 → 125	Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain	Domain
PF02882	THF_DHG_CYH_C	128 → 295	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain	Domain
PF01268	FTHFS	317 → 935	Formate--tetrahydrofolate ligase	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MAPAEILNGKEISAQIRARLKNQVTQLKEQVPGFTPRLAILQVGNRDDSNLYINVKLKAA
EEIGIKATHIKLPRTTTESEVMKYITSLNEDSTVHGFLVQLPLDSENSINTEEVINAIAP
EKDVDGLTSINAGRLARGDLNDCFIPCTPKGCLELIKETGVPIAGRHAVVVGRSKIVGAP
MHDLLLWNNATVTTCHSKTAHLDEEVNKGDILVVATGQPEMVKGEWIKPGAIVIDCGINY
VPDDKKPNGRKVVGDVAYDEAKERASFITPVPGGVGPMTVAMLMQSTVESAKRFLEKFKP
GKWMIQYNNLNLKTPVPSDIDISRSCKPKPIGKLAREIGLLSEEVELYGETKAKVLLSAL
ERLKHRPDGKYVVVTGITPTPLGEGKSTTTIGLVQALGAHLYQNVFACVRQPSQGPTFGI
KGGAAGGGYSQVIPMEEFNLHLTGDIHAITAANNLVAAAIDARIFHELTQTDKALFNRLV
PSVNGVRRFSDIQIRRLKRLGIEKTDPTTLTDEEINRFARLDIDPETITWQRVLDTNDRF
LRKITIGQAPTEKGHTRTAQFDISVASEIMAVLALTTSLEDMRERLGKMVVASSKKGEPV
SAEDLGVSGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFANIAHGNSSIIADRIALKLVG
PEGFVVTEAGFGADIGMEKFFNIKCRYSGLCPHVVVLVATVRALKMHGGGPTVTAGLPLP
KAYIQENLELVEKGFSNLKKQIENARMFGIPVVVAVNAFKTDTESELDLISRLSREHGAF
DAVKCTHWAEGGKGALALAQAVQRAAQAPSSFQLLYDLKLPVEDKIRIIAQKIYGADDIE
LLPEAQHKAEVYTKQGFGNLPICMAKTHLSLSHNPEQKGVPTGFILPIRDIRASVGAGFL
YPLVGTMSTMPGLPTRPCFYDIDLDPETEQVNGLF

Sequence length

935

Interactions

View interactions

	KEGG		Reactome
	One carbon pool by folate Metabolic pathways Biosynthesis of cofactors Folate transport and metabolism		Metabolism of folate and pterines

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	Pathogenic; Likely pathogenic	rs796064510, rs999121868, rs747933171, rs781065280, rs1555337681, rs1456143398, rs370444838, rs760889414, rs1555336810, rs1329424461	RCV001252952 RCV003140606 RCV005003684 RCV000515542 RCV000515549 RCV000515544 RCV000515546 RCV000515548 RCV000515547 RCV005010554
Neural tube defects, folate-sensitive	Likely pathogenic; Pathogenic	rs747933171, rs781065280, rs370444838, rs1329424461	RCV005003684 RCV005010466 RCV005004206 RCV005010554
Severe combined immunodeficiency disease	Likely pathogenic; Pathogenic	rs920392170, rs2140987866, rs2550508430, rs146862861, rs370444838	RCV002266422 RCV002266423 RCV002510474 RCV003226773 RCV001797742

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Likely benign	rs151019303	RCV005910682
Cholangiocarcinoma	Likely benign	rs151019303	RCV005910689
Clear cell carcinoma of kidney	Uncertain significance	rs139264994	RCV005911261
Familial cancer of breast	Likely benign	rs151019303	RCV005910680
Gastric cancer	Likely benign	rs151019303	RCV005910686
Hepatocellular carcinoma	Uncertain significance	rs765489316	RCV005926629
Lung cancer	Likely benign	rs151019303	RCV005910690
Malignant lymphoma, large B-cell, diffuse	Likely benign	rs151019303	RCV005910684
Malignant tumor of esophagus	Likely benign	rs760555405	RCV005869685
Melanoma	Likely benign	rs151019303	RCV005910688
MTHFD1-related disorder	Benign; Likely benign; Uncertain significance	rs377181293, rs769040296, rs2140975737, rs771168798, rs913206571, rs967212763, rs200373818, rs1346769283, rs543634249, rs1801340, rs765045712, rs151019303, rs149899012, rs149791016, rs143887854	RCV003941091 RCV003968806 RCV003896058 RCV003913513 RCV003903720 RCV003898429 RCV003409900 RCV003897184 RCV003899528 RCV003941908 RCV003939700 RCV003906081 RCV003935957 RCV003970407 RCV003943197
Neural tube defects, folate-sensitive, susceptibility to	Benign; Likely benign	rs2236225	RCV000014603
Nonpapillary renal cell carcinoma	Likely benign	rs151019303	RCV005910681
Ovarian serous cystadenocarcinoma	Uncertain significance; Likely benign	rs150796086, rs2550498092, rs151019303	RCV005928311 RCV005928625 RCV005910687
Sarcoma	Likely benign	rs151019303	RCV005910685
See cases	Uncertain significance	rs559405420	RCV002252536
Spina bifida, folate-sensitive, susceptibility to	Conflicting classifications of pathogenicity	rs34181110	RCV000014602
Uterine corpus endometrial carcinoma	Likely benign	rs2550506835	RCV005928482
Uveal melanoma	Uncertain significance; Likely benign	rs139264994, rs151019303	RCV005911262 RCV005910683

Show/Hide Text Mining Associations (61)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alcoholism	Associate	21537707
Alzheimer Disease	Associate	17691219
Anemia Megaloblastic	Associate	25548164
Anencephaly	Associate	26394717
Angina Stable	Associate	26803590
Aortic Aneurysm Abdominal	Associate	20871623
Aortic Dissection	Associate	20871623
Arthritis Rheumatoid	Associate	27770044
Autistic Disorder	Associate	21360829
Carcinogenesis	Associate	30343310
Carcinoma Hepatocellular	Associate	30482855
Carcinoma Non Small Cell Lung	Associate	20737570, 30343310
Carcinoma Renal Cell	Inhibit	30459299
Cardiovascular Diseases	Associate	26803590
Choline Deficiency	Associate	27342765
Cleft Lip	Associate	18661527
Cleft Palate	Associate	31262291
Colorectal Neoplasms	Associate	26108676, 28968444
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	21360829
Conotruncal cardiac defects	Associate	19493349, 22495907
Conotruncal cardiac defects	Stimulate	22495907
Depressive Disorder	Associate	26926881, 37628752
Diabetes Mellitus Type 2	Associate	32238907
DiGeorge Syndrome	Associate	29713328
Dissection Thoracic Aorta	Associate	20871623
Down Syndrome	Associate	24668664
Encephalocele	Associate	26394717
Epilepsy	Associate	21543238
Essential Hypertension	Associate	30183434
Folate Malabsorption Hereditary	Associate	26561410
Genetic Diseases Inborn	Associate	30882176
Head and Neck Neoplasms	Associate	21537707
Heart Defects Congenital	Associate	28865601, 35100977, 37630697
Hypertension	Associate	30183434, 33382484
Infertility Male	Associate	30882176
Learning Disabilities	Associate	21360829
Leukemia Biphenotypic Acute	Associate	23940529
Meningomyelocele	Associate	26250961
Mental Disorders	Associate	26926881
Metabolism Inborn Errors	Associate	25548164
Methylenetetrahydrofolate reductase deficiency	Inhibit	25548164
Myocardial Infarction	Associate	26803590
Neoplasm Metastasis	Associate	30343310
Neoplasms	Associate	21537707, 28417167, 28968444, 30343310, 37628752
Neoplasms	Inhibit	28968444
Neural Tube Defects	Associate	12384833, 19130090, 19777576, 22903727, 26343515, 26394717, 30867013
Neurologic Manifestations	Associate	25548164
Orofacial Cleft 1	Associate	25129243
Osteosarcoma	Associate	21887680
Ovarian Neoplasms	Associate	37628752
Pancreatic Neoplasms	Associate	37347667
Parkinson Disease	Associate	17691219
Premature Birth	Associate	32720760
Rumination Syndrome	Associate	26926881
Schizophrenia	Associate	21360829
Severe Combined Immunodeficiency	Associate	29713328
Smoke Inhalation Injury	Associate	21537707
Spinal Dysraphism	Associate	19493349, 26394717
Stroke	Inhibit	33382484
Temporomandibular Joint Disorders	Associate	21615938
X Linked Combined Immunodeficiency Diseases	Associate	25548164

MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1)