The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]
Transcription factors with Perturb-seq knockdown data for MTHFD1L. 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 = MTHFD1L 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 MTHFD1L, 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 |
|---|---|---|---|---|
| chr6:150,068,383–150,069,891 | 797.2 kb | Distal (>10kb) Multiome HiCAR | 507 | |
| chr6:150,599,687–150,601,214 | 265.6 kb | Distal (>10kb) Multiome | 632 | |
| chr6:150,865,237–150,867,079 | 920 bp | At TSS Multiome | 1041 | |
| chr6:151,045,533–151,045,907 | 179.0 kb | Distal (>10kb) Multiome | 88 |
Genomic view of the MTHFD1L 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.