This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
Transcription factors with Perturb-seq knockdown data for GYG1. 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 = GYG1 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 GYG1, 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 |
|---|---|---|---|---|
| chr3:148,697,503–148,698,695 | 293.6 kb | Distal (>10kb) Multiome | 371 | |
| chr3:148,991,054–148,992,463 | 25 bp | At TSS Multiome | 826 | |
| chr3:148,999,966–149,000,152 | 8.4 kb | Proximal (<10kb) | 46 | |
| chr3:149,085,604–149,087,032 | 94.9 kb | Distal (>10kb) Multiome | 1012 | |
| chr3:149,129,236–149,130,370 | 138.2 kb | Distal (>10kb) Multiome | 951 | |
| chr3:149,196,583–149,197,308 | 205.4 kb | Distal (>10kb) Multiome | 127 | |
| chr3:149,198,425–149,199,153 | 207.2 kb | Distal (>10kb) Multiome | 164 |
Genomic view of the GYG1 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.