MTHFD1L

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]

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)[1] Band 6q25.1 Start 150,865,679 bp[1] End 151,101,887 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10|10 A1 Start 3,973,118 bp[2] End 4,167,081 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 25902 270685 Ensembl ENSG00000120254 ENSMUSG00000040675 UniProt Q6UB35 Q4VXM1 Q3V3R1 RefSeq (mRNA) 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 RefSeq (protein) 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 Location (UCSC) Chr 6: 150.87 – 151.1 Mb Chr 10: 3.97 – 4.17 Mb PubMed search [3] [4]
Wikidata
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Function

One-carbon substituted forms of tetrahydrofolate (THF) are involved in the de novo synthesis of purines and thymidylate and support cellular methylation reactions through the regeneration of methionine from homocysteine. MTHFD1L is an enzyme involved in THF synthesis in mitochondria.^[7]

In contrast to MTHFD1 that has trifunctional methylenetetrahydrofolate dehydrogenase, methenyltetrahydrofolate cyclohydrolase, and formyltetrahydrofolate synthetase enzymatic activities, MTHFD1L only has formyltetrahydrofolate synthetase activity.^[8]

Clinical significance

Certain variants of the MTHFD1L are associated neural tube defects.^[9] Different alleles of SNP rs7646 in the 3′ UTR of MTHFD1L are differentially regulated by microRNAs affecting MTHFD1L expression.^[10]