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Aliases for MTHFD1L Gene

Aliases for MTHFD1L Gene

  • Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 1-Like 2 3
  • Formyltetrahydrofolate Synthetase Domain Containing 1 2 3
  • 10-Formyl-THF Synthetase 2 3
  • EC 4 63
  • FTHFSDC1 3 4
  • MTC1THFS 3 6
  • Monofunctional C1-Tetrahydrofolate Synthase, Mitochondrial 3
  • Monofunctional C1-Tetrahydrofolate Synthase 2
  • Mitochondrial C1-Tetrahydrofolate Synthase 2
  • Formyltetrahydrofolate Synthetase 4
  • Mitochondrial 2
  • DJ292B18.2 3

External Ids for MTHFD1L Gene

Previous HGNC Symbols for MTHFD1L Gene


Previous GeneCards Identifiers for MTHFD1L Gene

  • GC06P151279
  • GC06P151186
  • GC06P148750

Summaries for MTHFD1L Gene

Entrez Gene Summary for MTHFD1L Gene

  • The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]

GeneCards Summary for MTHFD1L Gene

MTHFD1L (Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 1-Like) is a Protein Coding gene. Among its related pathways are Metabolism and One carbon pool by folate. GO annotations related to this gene include protein homodimerization activity and methenyltetrahydrofolate cyclohydrolase activity. An important paralog of this gene is MTHFD2.

UniProtKB/Swiss-Prot for MTHFD1L Gene

  • May provide the missing metabolic reaction required to link the mitochondria and the cytoplasm in the mammalian model of one-carbon folate metabolism in embryonic an transformed cells complementing thus the enzymatic activities of MTHFD2.

Gene Wiki entry for MTHFD1L Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTHFD1L Gene

Genomics for MTHFD1L Gene

Regulatory Elements for MTHFD1L Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MTHFD1L Gene

150,865,549 bp from pter
151,101,887 bp from pter
236,339 bases
Plus strand

Genomic View for MTHFD1L Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MTHFD1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTHFD1L Gene

Proteins for MTHFD1L Gene

  • Protein details for MTHFD1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Monofunctional C1-tetrahydrofolate synthase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • Q2TBF3
    • Q8WVW0
    • Q96HG8
    • Q9H789
    • Q9UFU8

    Protein attributes for MTHFD1L Gene

    978 amino acids
    Molecular mass:
    105790 Da
    Quaternary structure:
    • Homodimer.
    • May participate in the progression of colorectal cancer by conferring growth advantage. Could be a new molecular target for cancer therapy
    • Sequence=AAH08629.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB15009.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MTHFD1L Gene


neXtProt entry for MTHFD1L Gene

Proteomics data for MTHFD1L Gene at MOPED

Post-translational modifications for MTHFD1L Gene

  • Ubiquitination at Lys727
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MTHFD1L (MTHFD1L)

Domains for MTHFD1L Gene

Graphical View of Domain Structure for InterPro Entry



  • Q6UB35
  • This monofunctional enzyme consists of two major domains: an N-terminal inactive methylene-THF dehydrogenase and cyclohydrolase domain and an active larger formyl-THF synthetase C-terminal domain
  • In the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family.
  • In the C-terminal section; belongs to the formate--tetrahydrofolate ligase family.
genes like me logo Genes that share domains with MTHFD1L: view

No data available for Gene Families for MTHFD1L Gene

Function for MTHFD1L Gene

Molecular function for MTHFD1L Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=500 uM for THF monoglutamate {ECO:0000269 PubMed:16171773}; KM=16 uM for THF triglutamate {ECO:0000269 PubMed:16171773}; KM=3.6 uM for THF pentaglutamate {ECO:0000269 PubMed:16171773};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + formate + tetrahydrofolate = ADP + phosphate + 10-formyltetrahydrofolate
UniProtKB/Swiss-Prot Function:
May provide the missing metabolic reaction required to link the mitochondria and the cytoplasm in the mammalian model of one-carbon folate metabolism in embryonic an transformed cells complementing thus the enzymatic activities of MTHFD2.

Enzyme Numbers (IUBMB) for MTHFD1L Gene

Gene Ontology (GO) - Molecular Function for MTHFD1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004329 formate-tetrahydrofolate ligase activity IDA 12937168
GO:0004477 NOT methenyltetrahydrofolate cyclohydrolase activity IBA --
GO:0004488 NOT methylenetetrahydrofolate dehydrogenase (NADP+) activity IBA --
GO:0005524 ATP binding IDA 16171773
genes like me logo Genes that share ontologies with MTHFD1L: view
genes like me logo Genes that share phenotypes with MTHFD1L: view

Animal Model Products

CRISPR Products

miRNA for MTHFD1L Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for MTHFD1L Gene

Localization for MTHFD1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTHFD1L Gene


Subcellular locations from

Jensen Localization Image for MTHFD1L Gene COMPARTMENTS Subcellular localization image for MTHFD1L gene
Compartment Confidence
mitochondrion 5
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MTHFD1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 12937168
GO:0005829 NOT cytosol IBA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with MTHFD1L: view

Pathways for MTHFD1L Gene

genes like me logo Genes that share pathways with MTHFD1L: view

Pathways by source for MTHFD1L Gene

2 KEGG pathways for MTHFD1L Gene

UniProtKB/Swiss-Prot Q6UB35-C1TM_HUMAN

  • Pathway: One-carbon metabolism; tetrahydrofolate interconversion

Gene Ontology (GO) - Biological Process for MTHFD1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006730 one-carbon metabolic process IBA --
GO:0006760 folic acid-containing compound metabolic process IDA 12937168
GO:0009396 folic acid-containing compound biosynthetic process IEA --
GO:0015942 formate metabolic process IDA 16171773
GO:0035999 tetrahydrofolate interconversion IEA --
genes like me logo Genes that share ontologies with MTHFD1L: view

Compounds for MTHFD1L Gene

(11) HMDB Compounds for MTHFD1L Gene

Compound Synonyms Cas Number PubMed IDs
5,10-Methenyltetrahydrofolic acid
  • 5,10-Methenyltetrahydrofolate
  • 5,10-methylene-THF
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
  • adenosindiphosphorsaeure
Formic acid
  • Add-F
genes like me logo Genes that share compounds with MTHFD1L: view

Transcripts for MTHFD1L Gene

Unigene Clusters for MTHFD1L Gene

Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MTHFD1L

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTHFD1L Gene

No ASD Table

Relevant External Links for MTHFD1L Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MTHFD1L Gene

mRNA expression in normal human tissues for MTHFD1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MTHFD1L Gene

This gene is overexpressed in Artery - Coronary (6.1).

Protein differential expression in normal tissues for MTHFD1L Gene

This gene is overexpressed in Breast (42.7) and Testis (7.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MTHFD1L Gene

SOURCE GeneReport for Unigene cluster for MTHFD1L Gene Hs.591343

mRNA Expression by UniProt/SwissProt for MTHFD1L Gene

Tissue specificity: Detected in most tissues, highest expression found in placenta, thymus and brain. Low expression is found in liver and skeletal muscle. Up-regulated in colon adenocarcinoma.
genes like me logo Genes that share expressions with MTHFD1L: view

Expression partners for MTHFD1L Gene

In Situ Assay Products

Orthologs for MTHFD1L Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MTHFD1L Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia MTHFD1L 35
  • 86.97 (n)
  • 89.54 (a)
  • 89 (a)
(Canis familiaris)
Mammalia MTHFD1L 35
  • 89.69 (n)
  • 93.9 (a)
  • 94 (a)
(Mus musculus)
Mammalia Mthfd1l 35
  • 84 (n)
  • 88.43 (a)
Mthfd1l 16
Mthfd1l 36
  • 88 (a)
(Pan troglodytes)
Mammalia MTHFD1L 35
  • 99.56 (n)
  • 99.69 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Mthfd1l 35
  • 83.9 (n)
  • 87.82 (a)
(Monodelphis domestica)
Mammalia MTHFD1L 36
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia MTHFD1L 36
  • 80 (a)
(Gallus gallus)
Aves MTHFD1L 35
  • 74.02 (n)
  • 76.16 (a)
  • 74 (a)
(Anolis carolinensis)
Reptilia MTHFD1L 36
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mthfd1l 35
  • 72.9 (n)
  • 77.42 (a)
(Danio rerio)
Actinopterygii mthfd1l 35
  • 67.71 (n)
  • 69.71 (a)
mthfd1l 36
  • 65 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9251 35
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE3 36
  • 49 (a)
(Glycine max)
eudicotyledons Gma.5796 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.714 35
(Hordeum vulgare)
Liliopsida Hv.10671 35
(Oryza sativa)
Liliopsida Os.14842 35
Species with no ortholog for MTHFD1L:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MTHFD1L Gene

Gene Tree for MTHFD1L (if available)
Gene Tree for MTHFD1L (if available)

Paralogs for MTHFD1L Gene

Paralogs for MTHFD1L Gene Pseudogenes for MTHFD1L Gene

genes like me logo Genes that share paralogs with MTHFD1L: view

Variants for MTHFD1L Gene

Sequence variations from dbSNP and Humsavar for MTHFD1L Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs7543 -- 151,101,800(+) GATTA(A/G)GAGTG utr-variant-3-prime
rs7646 -- 151,101,614(-) CACCA(A/C/T)GTCTC utr-variant-3-prime
rs25517 -- 151,025,871(-) ACCTA(C/T)GAAAA intron-variant
rs119019 -- 150,970,824(+) TGGAA(A/G)TCTAA intron-variant
rs140866 -- 150,994,499(+) ATCCC(-/AA)GTCAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MTHFD1L Gene

Variant ID Type Subtype PubMed ID
nsv350123 CNV Loss 16902084
esv5615 CNV Loss 19470904
esv2732889 CNV Deletion 23290073
esv2672856 CNV Deletion 23128226
dgv2016e1 CNV Complex 17122850
nsv525834 CNV Loss 19592680
nsv518529 CNV Loss 19592680
nsv5540 CNV Loss 18451855
nsv464081 CNV Loss 19166990
nsv519886 CNV Loss 19592680
nsv818460 CNV Loss 17921354
nsv7978 CNV Gain 18304495
esv2669738 CNV Deletion 23128226
nsv523123 CNV Loss 19592680
esv2732890 CNV Deletion 23290073
esv1051422 CNV Insertion 17803354

Relevant External Links for MTHFD1L Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTHFD1L Gene

Disorders for MTHFD1L Gene

Relevant External Links for MTHFD1L

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator

No disorders were found for MTHFD1L Gene.

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for MTHFD1L Gene

Publications for MTHFD1L Gene

  1. Mitochondrial methylenetetrahydrofolate dehydrogenase, methenyltetrahydrofolate cyclohydrolase, and formyltetrahydrofolate synthetases. (PMID: 18804703) Christensen K.E. … Mackenzie R.E. (Vitam. Horm. 2008) 2 3 23
  2. Enzymatic characterization of human mitochondrial C1-tetrahydrofolate synthase. (PMID: 16171773) Walkup A.S. … Appling D.R. (Arch. Biochem. Biophys. 2005) 3 4 23
  3. A novel mitochondrial C1-tetrahydrofolate synthetase is upregulated in human colon adenocarcinoma. (PMID: 15013446) Sugiura T. … Hirotani K. (Biochem. Biophys. Res. Commun. 2004) 3 4 23
  4. Human mitochondrial C1-tetrahydrofolate synthase: gene structure, tissue distribution of the mRNA, and immunolocalization in Chinese hamster ovary calls. (PMID: 12937168) Prasannan P. … Appling D.R. (J. Biol. Chem. 2003) 3 4 23
  5. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira A.R. … Marazita M.L. (Genet. Med. 2008) 3 48

Products for MTHFD1L Gene

Sources for MTHFD1L Gene

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