The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
Transcription factors with Perturb-seq knockdown data for MTHFS. 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 = MTHFS 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 MTHFS, 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 |
|---|---|---|---|---|
| chr15:79,896,444–79,897,502 | 40 bp | At TSS Multiome | 983 | |
| chr15:79,922,798–79,924,291 | 26.8 kb | Distal (>10kb) Multiome | 898 | |
| chr15:80,042,284–80,043,445 | 145.9 kb | Distal (>10kb) Multiome | 46 | |
| chr15:80,058,797–80,060,366 | 162.6 kb | Distal (>10kb) Multiome | 899 | |
| chr15:80,151,875–80,153,515 | 255.7 kb | Distal (>10kb) Multiome | 652 | |
| chr15:81,323,755–81,324,850 | 1427.3 kb | Distal (>10kb) Multiome HiCAR | 604 |
Genomic view of the MTHFS 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.