MTHFD1 information

MTHFD1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1A4I, 1DIA, 1DIB, 1DIG
Identifiers
Aliases	MTHFD1, MTHFC, MTHFD, C1-THF-Synthase, methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1, CIMAH
External IDs	OMIM: 172460; MGI: 1342005; HomoloGene: 55940; GeneCards: MTHFD1; OMA:MTHFD1 - orthologs
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	76,366,577 bp
RNA expression pattern
	Top expressed in
	right lobe of liver; ; gastrocnemius muscle; ; Achilles tendon; ; adipose tissue; ; ganglionic eminence; ; subcutaneous adipose tissue; ; caudate nucleus; ; nucleus accumbens; ; right coronary artery; ; kidney;
	Top expressed in
	Paneth cell; ; primitive streak; ; right lobe of liver; ; left lobe of liver; ; right kidney; ; epiblast; ; Epithelium of choroid plexus; ; human kidney; ; left lung; ; right lung lobe;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	nucleotide binding; methylenetetrahydrofolate dehydrogenase (NADP+) activity; methylenetetrahydrofolate dehydrogenase (NAD+) activity; ligase activity; methylenetetrahydrofolate dehydrogenase [NAD(P)+ activity]; catalytic activity; oxidoreductase activity; ATP binding; hydrolase activity; protein binding; formate-tetrahydrofolate ligase activity; methenyltetrahydrofolate cyclohydrolase activity;
Cellular component	membrane; mitochondrion; extracellular exosome; cytoplasm; cytosol;
Biological process	purine nucleotide biosynthetic process; transsulfuration; neutrophil homeostasis; one-carbon metabolic process; serine family amino acid metabolic process; embryonic neurocranium morphogenesis; tetrahydrofolate interconversion; histidine biosynthetic process; cellular amino acid biosynthetic process; somite development; serine family amino acid biosynthetic process; methionine biosynthetic process; heart development; methionine metabolic process; neural tube closure; folic acid metabolic process; embryonic viscerocranium morphogenesis; metabolism; purine nucleobase biosynthetic process; 10-formyltetrahydrofolate biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	4522
	108156
	n/a
	ENSMUSG00000021048
	P11586
	Q922D8
	NM_005956; NM_001364837
	NM_138745
	NP_005947; NP_001351766
	NP_620084
	Wikidata
View/Edit Human	View/Edit Mouse

Methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 (MTHFD1) is a gene located in humans on chromosome 14^[4] that encodes a protein, C-1-tetrahydrofolate synthase, cytoplasmic also known as C1-THF synthase, with three distinct enzymatic activities.^[5]^[6]^[7]

^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021048 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Symbol report for MTHFD1". HUGO. HUGO Gene Nomenclature Committee. Retrieved 13 March 2024.
^ Hum DW, Bell AW, Rozen R, MacKenzie RE (November 1988). "Primary structure of a human trifunctional enzyme. Isolation of a cDNA encoding methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase". The Journal of Biological Chemistry. 263 (31): 15946–15950. doi:10.1016/S0021-9258(18)37540-9. PMID 3053686.
^ Rozen R, Barton D, Du J, Hum DW, MacKenzie RE, Francke U (June 1989). "Chromosomal localization of the gene for the human trifunctional enzyme, methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase". American Journal of Human Genetics. 44 (6): 781–786. PMC 1715669. PMID 2786332.
^ "Entrez Gene: MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase".

[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000021048 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Symbol report for MTHFD1". HUGO. HUGO Gene Nomenclature Committee. Retrieved 13 March 2024.

[pmid3053686-5] Hum DW, Bell AW, Rozen R, MacKenzie RE (November 1988). "Primary structure of a human trifunctional enzyme. Isolation of a cDNA encoding methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase". The Journal of Biological Chemistry. 263 (31): 15946–15950. doi:10.1016/S0021-9258(18)37540-9. PMID 3053686.

[pmid2786332-6] Rozen R, Barton D, Du J, Hum DW, MacKenzie RE, Francke U (June 1989). "Chromosomal localization of the gene for the human trifunctional enzyme, methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase". American Journal of Human Genetics. 44 (6): 781–786. PMC 1715669. PMID 2786332.

[entrez-7] "Entrez Gene: MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase".

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