MTHFD1L information

MTHFD1L
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2EO2
Identifiers
Aliases	MTHFD1L, FTHFSDC1, MTC1THFS, dJ292B18.2, methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like, methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like
External IDs	OMIM: 611427; MGI: 1924836; HomoloGene: 56706; GeneCards: MTHFD1L; OMA:MTHFD1L - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	151,101,887 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	4,167,081 bp
RNA expression pattern
	Top expressed in
	right coronary artery; ; stromal cell of endometrium; ; left coronary artery; ; cartilage tissue; ; ascending aorta; ; endothelial cell; ; tibia; ; tibial arteries; ; cerebellar hemisphere; ; right hemisphere of cerebellum;
	Top expressed in
	epiblast; ; primitive streak; ; hand; ; tail of embryo; ; endothelial cell of lymphatic vessel; ; lens; ; bone marrow; ; calvaria; ; human fetus; ; mesenteric lymph nodes;
	More reference expression data
	n/a
Gene ontology
Molecular function	nucleotide binding; protein homodimerization activity; methenyltetrahydrofolate cyclohydrolase activity; formate-tetrahydrofolate ligase activity; ligase activity; ATP binding; methylenetetrahydrofolate dehydrogenase (NADP+) activity;
Cellular component	membrane; mitochondrial matrix; mitochondrion; cytoplasm;
Biological process	formate metabolic process; embryonic neurocranium morphogenesis; tetrahydrofolate interconversion; tetrahydrofolate metabolic process; neural tube closure; folic acid metabolic process; embryonic viscerocranium morphogenesis; folic acid-containing compound metabolic process; purine nucleobase biosynthetic process; 10-formyltetrahydrofolate biosynthetic process; one-carbon metabolic process; folic acid-containing compound biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	25902
	270685
	ENSG00000120254
	ENSMUSG00000040675
	Q6UB35; Q4VXM1
	Q3V3R1
NM_001242767; NM_001242768; NM_001242769; NM_015440; NM_001350486;
	NM_001350487; NM_001350488; NM_001350489; NM_001350490; NM_001350491; NM_001350492; NM_001350493
	NM_001170785; NM_001170786; NM_172308
NP_001229696; NP_001229697; NP_001229698; NP_056255; NP_001337415;
	NP_001337416; NP_001337417; NP_001337418; NP_001337419; NP_001337420; NP_001337421; NP_001337422
	NP_001164256; NP_001164257; NP_758512
	Wikidata
View/Edit Human	View/Edit Mouse

Monofunctional C1-tetrahydrofolate synthase, mitochondrial also known as formyltetrahydrofolate synthetase, is an enzyme that in humans is encoded by the MTHFD1L gene (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like).^[5]^[6]^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000120254 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000040675 – 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.
^ Prasannan P, Pike S, Peng K, Shane B, Appling DR (October 2003). "Human mitochondrial C1-tetrahydrofolate synthase: gene structure, tissue distribution of the mRNA, and immunolocalization in Chinese hamster ovary calls". J. Biol. Chem. 278 (44): 43178–87. doi:10.1074/jbc.M304319200. PMC 1457088. PMID 12937168.
^ Christensen KE, Mackenzie RE (2008). "Mitochondrial methylenetetrahydrofolate dehydrogenase, methenyltetrahydrofolate cyclohydrolase, and formyltetrahydrofolate synthetases". Vitam. Horm. 79: 393–410. doi:10.1016/S0083-6729(08)00414-7. PMID 18804703.
^ "Entrez Gene: methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000120254 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000040675 – Ensembl, May 2017

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

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

[pmid12937168-5] Prasannan P, Pike S, Peng K, Shane B, Appling DR (October 2003). "Human mitochondrial C1-tetrahydrofolate synthase: gene structure, tissue distribution of the mRNA, and immunolocalization in Chinese hamster ovary calls". J. Biol. Chem. 278 (44): 43178–87. doi:10.1074/jbc.M304319200. PMC 1457088. PMID 12937168.

[pmid18804703-6] Christensen KE, Mackenzie RE (2008). "Mitochondrial methylenetetrahydrofolate dehydrogenase, methenyltetrahydrofolate cyclohydrolase, and formyltetrahydrofolate synthetases". Vitam. Horm. 79: 393–410. doi:10.1016/S0083-6729(08)00414-7. PMID 18804703.

[entrez-7] "Entrez Gene: methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like".

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