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Gene · 4522

MTHFD1: methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

12 sourcesgene-search-2026-11-11-0.2.0

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ConductScience Library. MTHFD1: methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1. Genes, record 4522. Release gene-search-2026-11-11-0.2.0, 11 Nov 2026. https://conductscience.org/library/genes/4522

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Gene

Symbol
MTHFD1
HGNC
Name
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
HGNC
NCBI Gene ID
4522
NCBI Gene
HGNC ID
HGNC:7432
HGNC
Ensembl
ENSG00000100714
NCBI Gene
Aliases
CIMAH, MTHFC, MTHFD
NCBI Gene
Type
protein-coding
NCBI Gene

Proteins1

Reviewed human proteins whose Swiss-Prot entry states the gene.

UniProt entryProteinLengthStructuresGene stated in
P11586C-1-tetrahydrofolate synthase, cytoplasmic93512Ensembl, GeneID, HGNC

Source UniProt

Patents26

Patents whose sequence listing contains this protein's exact sequence. A patent can list a sequence without claiming it.

PublicationPublishedSEQ ID NOProteinSource
EP 4650780 A22025-11-1919701P11586Espacenet
JP 2025517970 A2025-06-1219701P11586Espacenet
JP 2025024198 A2025-02-1913711P11586Espacenet
US 11694765 B22023-07-04146P11586Espacenet
US 11446398 B22022-09-2050925P11586Espacenet
US 11400116 B22022-08-023405P11586Espacenet
JP 2022524081 A2022-04-27153896P11586Espacenet
US 11078247 B22021-08-037062P11586Espacenet
JP 2020072653 A2020-05-14287P11586Espacenet
US 10352947 B22019-07-16178P11586Espacenet

1 to 10 of 26

See all 26 patents

Drugs0

Drugs a ChEMBL mechanism record says act on the gene's protein, through Open Targets.

None in this release.

Trials0

Trials of those drugs. A trial joins the gene only through a drug that acts on it.

None in this release.

NIH grants1,133

NIH grants whose papers are about the gene, through NIH's grant-paper links.

GrantTitleMTHFD1 papersNewest fiscal year
P30DK056350Nutrition Obesity Research Center (NORC)182025
ZIAHG000167The contribution folate and vitamin B12 genes to disease.132025
P30CA072720Cancer Center Support Grant102025
P30ES010126UNC Center for Environmental Health and Susceptibility82025
R01CA163591Tumor cell metabolism in action82025
P30ES013508Center of Excellence in Environmental Toxicology72025
P30CA010815Consolidated Basic Cancer Research Program52025
P30ES009089Center for Environmental Health in Northern Manhattan52025
P30DK019525University of Pennsylvania Diabetes Research Center42025
T32CA009531Training Program in the Biology of Cancer42025

1 to 10 of 1,133Source NIH's project files

See all 1,133 nih grants

Papers1,437

Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.

TitleJournalYearPMIDFound bySource
A genome-wide CRISPR knockout screen identified host genes essential for Brucella invasion and intracellular survival.Emerg Microbes Infect202642617139PubTator, text miningPubMed
A prognostic signature based on methionine metabolism-related genes for cervical cancer: integrated transcriptomic and experimental validation.PeerJ202642500207PubTator, text miningPubMed
LncPTEC mediated homocysteine accumulation elevates oxidative stress via UBQLN1-dependent MTHFD1 ubiquitination in DKD.Cell Death Dis202642414264PubTator, text miningPubMed
A mathematical model of folate-mediated one-carbon metabolism in Down syndrome.NPJ Syst Biol Appl202642362570PubTator, text miningPubMed
Integrative Analysis of Genetic Risk Factors for Acute Myeloid Leukemia Using Mendelian Randomization and Single-Cell RNA Sequencing Validation.Int J Genomics202642255490PubTator, text miningPubMed
Low folate status and related polymorphisms are associated with lower sperm quality in healthy males: The Lifestyle and Environmental Determinants of Seminogram and Other Male Fertility-Related Parameters (Led-Fertyl) cross-sectional study.
Am J Clin Nutr202642250605PubTator, text miningPubMed
Association of genetic polymorphisms on methotrexate toxicity in patients with rheumatoid arthritis.Arch Med Sci202642110610PubTator, text miningPubMed
Role of one-carbon metabolism variants in the associations between perfluoroalkyl substances exposure and birth size in the Taiwan Birth Panel Study.Environ Epidemiol202641971740PubTator, text miningPubMed
Protein arginine methyltransferases in cancer: mechanisms, functions, and therapeutic opportunities.J Biomed Sci202641928257PubTator, text miningPubMed
A 'Standard of Care PLUS' Model for Preterm Birth Prevention: Integrating Nutrient and Gene Variant Analysis with Targeted Interventions.J Pers Med202641893003PubTator, text miningPubMed

1 to 10 of 1,437

See all 1,437 papers

Sources 12

  • ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
  • GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
  • HGNCCC0
  • NCBI GenePublic domain (US government)
  • NIH's project files and grant-paper linksPublic domain
  • Open TargetsCC0 1.0
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0
Each source's terms
  • ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
  • GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
  • HGNCCC0: https://www.genenames.org/about/license/
  • NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this gene from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/genes/v1/4522

GET https://conductscience.org/api/genes/v1/4522/patents?page=2