The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this may be an important factor in the transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Defects in this gene are a cause an autosomal recessive form of cognitive impairment. [provided by RefSeq, Jul 2017]
Transcription factors with Perturb-seq knockdown data for PGAP1. 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 = PGAP1 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 PGAP1, 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 |
|---|---|---|---|---|
| chr2:196,639,223–196,641,327 | 287.1 kb | Distal (>10kb) Multiome | 902 | |
| chr2:196,799,143–196,800,218 | 127.1 kb | Distal (>10kb) Multiome | 1098 | |
| chr2:196,917,006–196,917,210 | 9.5 kb | Proximal (<10kb) | 7 | |
| chr2:196,925,547–196,927,652 | 157 bp | At TSS Multiome | 896 | |
| chr2:197,005,378–197,006,095 | 78.9 kb | Distal (>10kb) Multiome | 220 | |
| chr2:197,143,874–197,144,411 | 217.4 kb | Distal (>10kb) Multiome | 70 | |
| chr2:197,147,612–197,148,468 | 221.3 kb | Distal (>10kb) Multiome | 159 | |
| chr2:197,163,852–197,164,800 | 237.7 kb | Distal (>10kb) Multiome | 238 |
Genomic view of the PGAP1 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.