The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]
Transcription factors with Perturb-seq knockdown data for PPT1. 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 = PPT1 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 PPT1, 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 |
|---|---|---|---|---|
| chr1:39,883,104–39,883,825 | 213.8 kb | Distal (>10kb) Multiome | 732 | |
| chr1:39,898,602–39,899,404 | 198.2 kb | Distal (>10kb) Multiome | 394 | |
| chr1:39,900,435–39,902,736 | 196.5 kb | Distal (>10kb) Multiome | 848 | |
| chr1:39,922,214–39,922,725 | 174.7 kb | Distal (>10kb) Multiome | 180 | |
| chr1:39,954,782–39,955,493 | 142.1 kb | Distal (>10kb) Multiome | 479 | |
| chr1:40,039,712–40,041,155 | 56.7 kb | Distal (>10kb) Multiome | 992 | |
| chr1:40,096,788–40,097,757 | 27 bp | At TSS Multiome | 852 | |
| chr1:40,161,107–40,161,976 | 64.1 kb | Distal (>10kb) Multiome | 954 | |
| chr1:40,257,418–40,258,681 | 160.8 kb | Distal (>10kb) Multiome | 1088 | |
| chr1:40,315,144–40,317,664 | 218.2 kb | Distal (>10kb) Multiome | 729 | |
| chr1:40,373,298–40,374,444 | 276.4 kb | Distal (>10kb) Multiome HiCAR | 747 | |
| chr1:40,394,885–40,396,067 | 298.4 kb | Distal (>10kb) Multiome | 153 |
Genomic view of the PPT1 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.