Gene table of MTHFD1 : methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MTHFD1	OMIM link	Number of associated genes	genes
601634	NEURAL TUBE DEFECTS, FOLATE-SENSITIVE	OMIM, HUMSAVAR	link to OMIM	4	MTHFD1, MTRR, MTR, MTHFR

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Annotation of the gene MTHFD1

Associated genes in ENSEMBL

ENSG00000100714

Associated proteins - SwissProt Accession ID

P11586

Associated PDB IDs

Cytogenetic Band

14q23.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Metabolic pathways	hsa01100	2.49
One carbon pool by folate	hsa00670	8.52

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Metabolism of vitamins and cofactors	R-HSA-196854	6.54
Metabolism of water-soluble vitamins and cofactors	R-HSA-196849	6.54
Metabolism	R-HSA-1430728	2.34
Metabolism of folate and pterines	R-HSA-196757	9.81

Associated GO terms for Molecular function

GO term	GO ID	GO IC
hydrolase activity	GO:0016787	1.9
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
oxidoreductase activity	GO:0016491	3.12
formate-tetrahydrofolate ligase activity	GO:0004329	8.35
oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptor	GO:0016646	6.79
oxidoreductase activity, acting on the CH-NH group of donors	GO:0016645	6.41
nucleotide binding	GO:0000166	1.96
cyclohydrolase activity	GO:0019238	7.95
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
nucleoside binding	GO:0001882	2.21
ATP binding	GO:0005524	2.43
methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity	GO:0004486	9.74
methylenetetrahydrofolate dehydrogenase (NAD+) activity	GO:0004487	8.64
methylenetetrahydrofolate dehydrogenase (NADP+) activity	GO:0004488	8.35
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
ligase activity	GO:0016874	3.72
ligase activity, forming carbon-nitrogen bonds	GO:0016879	5.7
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	GO:0016810	4.76
adenyl nucleotide binding	GO:0030554	2.4
methenyltetrahydrofolate cyclohydrolase activity	GO:0004477	8.35
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines	GO:0016814	6.21
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19