This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for MTHFD1. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = MTHFD1 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of MTHFD1, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr14:64,186,206–64,187,022 | 201.8 kb | Distal (>10kb) Multiome | 106 | |
| chr14:64,293,957–64,295,260 | 93.3 kb | Distal (>10kb) Multiome | 474 | |
| chr14:64,337,827–64,339,391 | 49.5 kb | Distal (>10kb) Multiome | 825 | |
| chr14:64,387,230–64,388,939 | 203 bp | At TSS Multiome | 902 | |
| chr14:64,391,271–64,391,891 | 3.3 kb | Proximal (<10kb) Multiome | 182 | |
| chr14:64,465,087–64,466,161 | 77.2 kb | Distal (>10kb) Multiome | 490 | |
| chr14:64,502,980–64,505,716 | 115.5 kb | Distal (>10kb) Multiome | 1045 | |
| chr14:64,508,924–64,509,409 | 120.9 kb | Distal (>10kb) Multiome | 117 | |
| chr14:64,539,520–64,541,644 | 152.2 kb | Distal (>10kb) Multiome | 722 | |
| chr14:64,549,785–64,550,422 | 161.7 kb | Distal (>10kb) Multiome | 234 | |
| chr14:64,645,238–64,645,989 | 257.4 kb | Distal (>10kb) Multiome | 252 | |
| chr14:64,657,975–64,659,082 | 270.3 kb | Distal (>10kb) Multiome | 104 |
Genomic view of the MTHFD1 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.