MTHFD1L Gene
Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 1 Like
Gene Information Card
| Symbol | MTHFD1L |
|---|---|
| Full Name | Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 1 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 6q25.1 |
| NCBI Gene ID | 25902 ncbi.nlm.nih.gov/gene/25902 |
| Ensembl ID | ENSG00000120254 |
| UniProt ID | Q6UB35 |
| OMIM ID | 611427 |
| HGNC ID | 25763 |
| Aliases | MTHFD1L, MTHFD2L, FLJ10534 |
Description
MTHFD1L encodes a mitochondrial enzyme involved in the folate-mediated one-carbon metabolism pathway. It catalyzes the conversion of 10-formyltetrahydrofolate to tetrahydrofolate and CO2, providing formate for purine synthesis and other biosynthetic processes. The gene is essential for embryonic development and cellular proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neural tube defects | Impaired folate metabolism due to MTHFD1L variants may reduce formate supply for nucleotide synthesis, disrupting neural tube closure. | PMID: 22995991 |
| Colorectal cancer | Altered MTHFD1L expression affects one-carbon metabolism, potentially influencing tumor growth. | COSMIC analysis |
| Hepatocellular carcinoma | Upregulation of MTHFD1L supports increased nucleotide synthesis in rapidly dividing cancer cells. | PMID: 25642768 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Brain | 4.1 | Low |
| Heart | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| HeLa | 7.2 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Nonsense | <0.01% | Loss of function |
| c.200G>A | Missense | 0.02% | Reduced enzyme activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt catalytic activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Folate metabolism (Reactome: R-HSA-196757)
• One-carbon metabolism (KEGG: hsa00670)
Protein Summary
MTHFD1L is a mitochondrial bifunctional enzyme with both methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. It plays a key role in one-carbon metabolism by generating formate from formyltetrahydrofolate, which is then used for purine and thymidine synthesis. The protein is 350 amino acids long and localizes to the mitochondrial matrix.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTHFD1L Knockout HEK293 Cell Line | EDJ-KQ2792 | Human | 25902 | Details Get a Quote |
| MTHFD1L Knockout A-549 Cell Line | EDJ-KQ23721 | Human | 25902 | Details Get a Quote |
| MTHFD1L Knockout HCT 116 Cell Line | EDJ-KQ23722 | Human | 25902 | Details Get a Quote |
| MTHFD1L Knockout HeLa Cell Line | EDJ-KQ23723 | Human | 25902 | Details Get a Quote |
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