This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
Transcription factors with Perturb-seq knockdown data for PSAP. 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 = PSAP 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 PSAP, 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 |
|---|---|---|---|---|
| chr10:71,638,710–71,639,451 | 212.1 kb | Distal (>10kb) Multiome | 524 | |
| chr10:71,657,441–71,658,753 | 193.4 kb | Distal (>10kb) Multiome | 216 | |
| chr10:71,708,123–71,708,597 | 142.9 kb | Distal (>10kb) Multiome | 239 | |
| chr10:71,773,303–71,773,917 | 77.7 kb | Distal (>10kb) Multiome | 524 | |
| chr10:71,850,725–71,851,685 | 31 bp | At TSS Multiome | 974 | |
| chr10:71,860,859–71,861,253 | 9.6 kb | Proximal (<10kb) | 426 | |
| chr10:71,963,568–71,965,093 | 113.2 kb | Distal (>10kb) Multiome | 614 | |
| chr10:72,048,540–72,049,027 | 197.5 kb | Distal (>10kb) Multiome | 552 |
Genomic view of the PSAP 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.