MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1)
2009-11-01 AffiliationIdentity
HGNC
LOCATION
14q23.3
LOCUSID
ALIAS
CIMAH,MTHFC,MTHFD
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4522
MIM: 172460
HGNC: 7432
Ensembl: ENSG00000100714
Variants:
dbSNP: 4522
ClinVar: 4522
TCGA: ENSG00000100714
COSMIC: MTHFD1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA444937 | Mesothelioma | Disease | ClinicalAnnotation | associated | PK | PD | 14647408, 15797993 |
| PA446155 | Precursor Cell Lymphoblastic Leukemia-Lymphoma | Disease | ClinicalAnnotation | associated | PK | PD | 14647408, 15797993 |
| PA450428 | methotrexate | Chemical | ClinicalAnnotation, VariantAnnotation | ambiguous | PK | PD | 14647408, 15797993 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38336749 | 2024 | MTHFD1 regulates the NADPH redox homeostasis in MYCN-amplified neuroblastoma. | 1 |
| 38336749 | 2024 | MTHFD1 regulates the NADPH redox homeostasis in MYCN-amplified neuroblastoma. | 1 |
| 36913067 | 2023 | The negative effect of G1958A polymorphism on MTHFD1 protein stability and HCC growth. | 2 |
| 36913067 | 2023 | The negative effect of G1958A polymorphism on MTHFD1 protein stability and HCC growth. | 2 |
| 34904448 | 2022 | Association Between MTHFD1 1958G > A Variant and non-Syndromic Cleft lip and Palate: An Updated Meta-Analysis. | 1 |
| 35100977 | 2022 | Association of MTHFD1 gene polymorphisms and maternal smoking with risk of congenital heart disease: a hospital-based case-control study. | 5 |
| 35894196 | 2022 | [Association of maternal MTHFD1 and MTHFD2 gene polymorphisms with congenital heart disease in offspring]. | 0 |
| 34904448 | 2022 | Association Between MTHFD1 1958G > A Variant and non-Syndromic Cleft lip and Palate: An Updated Meta-Analysis. | 1 |
| 35100977 | 2022 | Association of MTHFD1 gene polymorphisms and maternal smoking with risk of congenital heart disease: a hospital-based case-control study. | 5 |
| 35894196 | 2022 | [Association of maternal MTHFD1 and MTHFD2 gene polymorphisms with congenital heart disease in offspring]. | 0 |
| 31099277 | 2021 | Association of methionine synthase (rs1805087), methionine synthase reductase (rs1801394), and methylenetetrahydrofolate dehydrogenase 1 (rs2236225) genetic polymorphisms with recurrent implantation failure. | 1 |
| 33382484 | 2021 | A comprehensive association analysis between homocysteine metabolic pathway gene methylation and ischemic stroke in a Chinese hypertensive population. | 1 |
| 34544865 | 2021 | Orthogonal genome-wide screens of bat cells identify MTHFD1 as a target of broad antiviral therapy. | 22 |
| 31099277 | 2021 | Association of methionine synthase (rs1805087), methionine synthase reductase (rs1801394), and methylenetetrahydrofolate dehydrogenase 1 (rs2236225) genetic polymorphisms with recurrent implantation failure. | 1 |
| 33382484 | 2021 | A comprehensive association analysis between homocysteine metabolic pathway gene methylation and ischemic stroke in a Chinese hypertensive population. | 1 |
Citation
Dessen P
MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1)
Atlas Genet Cytogenet Oncol Haematol. 2009-11-01
