This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]
Transcription factors with Perturb-seq knockdown data for GNPTAB. 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 = GNPTAB 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 GNPTAB, 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 |
|---|---|---|---|---|
| chr12:101,406,958–101,408,760 | 423.1 kb | Distal (>10kb) Multiome HiCAR | 896 | |
| chr12:101,696,663–101,698,677 | 133.3 kb | Distal (>10kb) Multiome | 939 | |
| chr12:101,823,964–101,824,382 | 6.6 kb | Proximal (<10kb) | 226 | |
| chr12:101,830,071–101,831,573 | 8 bp | At TSS Multiome | 637 | |
| chr12:101,839,689–101,840,272 | 8.7 kb | Proximal (<10kb) | 263 | |
| chr12:101,876,810–101,878,266 | 46.6 kb | Distal (>10kb) Multiome | 1007 | |
| chr12:102,061,470–102,062,548 | 231.1 kb | Distal (>10kb) Multiome | 687 | |
| chr12:102,119,615–102,121,249 | 289.3 kb | Distal (>10kb) Multiome | 891 | |
| chr12:103,600,637–103,601,628 | 1770.2 kb | Distal (>10kb) Multiome HiCAR | 92 |
Genomic view of the GNPTAB 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.