This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014]
Transcription factors with Perturb-seq knockdown data for MBTPS1. 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 = MBTPS1 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 MBTPS1, 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 |
|---|---|---|---|---|
| chr16:83,840,075–83,841,171 | 276.4 kb | Distal (>10kb) Multiome | 136 | |
| chr16:83,888,352–83,889,387 | 228.0 kb | Distal (>10kb) Multiome | 237 | |
| chr16:83,898,559–83,899,828 | 217.8 kb | Distal (>10kb) Multiome | 773 | |
| chr16:83,926,399–83,927,376 | 190.0 kb | Distal (>10kb) Multiome | 532 | |
| chr16:83,968,110–83,968,725 | 148.4 kb | Distal (>10kb) Multiome | 261 | |
| chr16:84,013,600–84,015,009 | 102.6 kb | Distal (>10kb) Multiome | 388 | |
| chr16:84,043,411–84,043,885 | 73.1 kb | Distal (>10kb) Multiome | 292 | |
| chr16:84,062,518–84,063,095 | 53.9 kb | Distal (>10kb) Multiome | 330 | |
| chr16:84,116,331–84,117,716 | 67 bp | At TSS Multiome | 1013 | |
| chr16:84,144,637–84,145,742 | 28.4 kb | Distal (>10kb) Multiome | 679 | |
| chr16:84,186,615–84,187,246 | 70.2 kb | Distal (>10kb) Multiome | 848 | |
| chr16:84,268,108–84,268,844 | 151.6 kb | Distal (>10kb) Multiome | 42 | |
| chr16:84,367,919–84,368,944 | 251.6 kb | Distal (>10kb) Multiome | 287 |
Genomic view of the MBTPS1 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.