The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
Transcription factors with Perturb-seq knockdown data for PTDSS1. 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 = PTDSS1 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 PTDSS1, 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 |
|---|---|---|---|---|
| chr8:96,041,590–96,042,241 | 219.9 kb | Distal (>10kb) Multiome | 86 | |
| chr8:96,132,837–96,133,612 | 128.8 kb | Distal (>10kb) Multiome | 251 | |
| chr8:96,144,359–96,146,213 | 116.8 kb | Distal (>10kb) Multiome | 434 | |
| chr8:96,153,788–96,155,013 | 107.6 kb | Distal (>10kb) Multiome | 147 | |
| chr8:96,160,183–96,162,079 | 100.9 kb | Distal (>10kb) Multiome | 394 | |
| chr8:96,235,143–96,236,137 | 26.3 kb | Distal (>10kb) Multiome | 677 | |
| chr8:96,261,159–96,263,004 | 170 bp | At TSS Multiome | 1100 | |
| chr8:96,269,378–96,270,139 | 7.5 kb | Proximal (<10kb) | 64 | |
| chr8:96,281,343–96,281,988 | 19.5 kb | Distal (>10kb) Multiome | 137 | |
| chr8:96,327,549–96,328,440 | 66.1 kb | Distal (>10kb) Multiome | 453 | |
| chr8:96,493,060–96,495,549 | 231.8 kb | Distal (>10kb) Multiome | 801 | |
| chr8:97,643,510–97,645,718 | 1382.2 kb | Distal (>10kb) Multiome HiCAR | 951 |
Genomic view of the PTDSS1 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.