Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Transcription factors with Perturb-seq knockdown data for GALT. 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 = GALT 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 GALT, 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 |
|---|---|---|---|---|
| chr9:34,363,597–34,364,212 | 282.7 kb | Distal (>10kb) Multiome | 104 | |
| chr9:34,374,953–34,375,681 | 271.4 kb | Distal (>10kb) Multiome | 432 | |
| chr9:34,376,008–34,377,655 | 269.6 kb | Distal (>10kb) Multiome | 779 | |
| chr9:34,379,248–34,381,674 | 265.7 kb | Distal (>10kb) Multiome | 763 | |
| chr9:34,456,881–34,459,235 | 188.0 kb | Distal (>10kb) Multiome | 704 | |
| chr9:34,522,211–34,523,972 | 123.4 kb | Distal (>10kb) Multiome | 473 | |
| chr9:34,577,374–34,578,752 | 68.6 kb | Distal (>10kb) Multiome | 204 | |
| chr9:34,589,298–34,591,068 | 56.8 kb | Distal (>10kb) Multiome | 258 | |
| chr9:34,591,283–34,592,013 | 54.8 kb | Distal (>10kb) Multiome | 368 | |
| chr9:34,611,663–34,612,738 | 34.5 kb | Distal (>10kb) Multiome | 680 | |
| chr9:34,612,834–34,613,263 | 33.5 kb | Distal (>10kb) Multiome | 343 | |
| chr9:34,620,108–34,620,704 | 26.1 kb | Distal (>10kb) Multiome | 467 | |
| chr9:34,628,770–34,629,308 | 17.6 kb | Distal (>10kb) Multiome | 216 | |
| chr9:34,637,123–34,638,475 | 8.8 kb | Proximal (<10kb) Multiome | 872 | |
| chr9:34,646,247–34,647,338 | 70 bp | At TSS Multiome | 857 | |
| chr9:34,651,771–34,652,431 | 5.5 kb | Proximal (<10kb) Multiome | 669 | |
| chr9:34,664,346–34,666,446 | 18.9 kb | Distal (>10kb) Multiome | 707 | |
| chr9:34,674,895–34,675,574 | 28.6 kb | Distal (>10kb) Multiome | 372 | |
| chr9:34,701,127–34,701,863 | 54.8 kb | Distal (>10kb) Multiome | 390 |
Genomic view of the GALT 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.