This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]
Transcription factors with Perturb-seq knockdown data for GNPTG. 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 = GNPTG 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 GNPTG, 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 |
|---|---|---|---|---|
| chr16:740,359–741,596 | 610.9 kb | Distal (>10kb) Multiome HiCAR | 897 | |
| chr16:1,088,257–1,088,904 | 263.4 kb | Distal (>10kb) Multiome | 201 | |
| chr16:1,102,896–1,103,532 | 248.8 kb | Distal (>10kb) Multiome | 331 | |
| chr16:1,152,124–1,154,512 | 199.0 kb | Distal (>10kb) Multiome | 341 | |
| chr16:1,300,823–1,301,358 | 50.9 kb | Distal (>10kb) Multiome | 419 | |
| chr16:1,308,686–1,309,923 | 42.7 kb | Distal (>10kb) Multiome | 953 | |
| chr16:1,331,603–1,332,817 | 19.9 kb | Distal (>10kb) Multiome | 492 | |
| chr16:1,333,312–1,334,056 | 18.3 kb | Distal (>10kb) Multiome | 271 | |
| chr16:1,342,604–1,343,805 | 8.7 kb | Proximal (<10kb) Multiome | 560 | |
| chr16:1,351,418–1,352,242 | 34 bp | At TSS Multiome | 733 | |
| chr16:1,378,844–1,380,439 | 27.8 kb | Distal (>10kb) Multiome | 782 | |
| chr16:1,408,010–1,408,819 | 56.4 kb | Distal (>10kb) Multiome | 546 | |
| chr16:1,413,643–1,415,278 | 62.9 kb | Distal (>10kb) Multiome | 661 | |
| chr16:1,420,269–1,421,402 | 69.0 kb | Distal (>10kb) Multiome | 897 | |
| chr16:1,474,566–1,475,411 | 123.2 kb | Distal (>10kb) Multiome | 915 | |
| chr16:1,492,797–1,493,962 | 141.4 kb | Distal (>10kb) Multiome | 710 | |
| chr16:1,610,035–1,611,264 | 258.7 kb | Distal (>10kb) Multiome | 745 | |
| chr16:1,611,870–1,612,834 | 260.3 kb | Distal (>10kb) Multiome | 718 |
Genomic view of the GNPTG 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.