This gene encodes an integral membrane protein, which is localized to the endoplasmic reticulum, and functions as a phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, and phosphatidylinositol 3,5-bisphosphate. Deletion of this gene in mouse results in preimplantation lethality. Other studies suggest that this gene is also involved in the organization of golgi membranes and mitotic spindles. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame, downstream translation termination codon via a stop codon readthrough mechanism.[provided by RefSeq, Dec 2017]
Transcription factors with Perturb-seq knockdown data for SACM1L. 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 = SACM1L 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 SACM1L, 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 |
|---|---|---|---|---|
| chr3:45,593,037–45,594,632 | 95.9 kb | Distal (>10kb) Multiome | 938 | |
| chr3:45,673,142–45,673,693 | 15.8 kb | Distal (>10kb) Multiome | 31 | |
| chr3:45,684,209–45,684,875 | 4.7 kb | Proximal (<10kb) Multiome | 109 | |
| chr3:45,685,643–45,686,405 | 3.2 kb | Proximal (<10kb) Multiome | 42 | |
| chr3:45,688,221–45,689,801 | 17 bp | At TSS Multiome | 1010 | |
| chr3:45,756,823–45,757,497 | 68.1 kb | Distal (>10kb) Multiome | 7 | |
| chr3:45,760,846–45,761,421 | 72.0 kb | Distal (>10kb) Multiome | 280 | |
| chr3:45,796,192–45,796,864 | 107.3 kb | Distal (>10kb) Multiome | 188 | |
| chr3:45,841,672–45,842,368 | 152.9 kb | Distal (>10kb) Multiome | 746 |
Genomic view of the SACM1L 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.