This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for B4GALT1. 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 = B4GALT1 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 B4GALT1, 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 |
|---|---|---|---|---|
| chr9:32,950,445–32,951,255 | 216.5 kb | Distal (>10kb) Multiome | 12 | |
| chr9:33,000,845–33,002,021 | 165.7 kb | Distal (>10kb) Multiome | 802 | |
| chr9:33,024,523–33,026,243 | 142.0 kb | Distal (>10kb) Multiome | 972 | |
| chr9:33,044,108–33,044,981 | 122.8 kb | Distal (>10kb) Multiome | 451 | |
| chr9:33,076,221–33,076,965 | 90.6 kb | Distal (>10kb) Multiome | 804 | |
| chr9:33,166,320–33,168,338 | 42 bp | At TSS Multiome | 849 | |
| chr9:33,171,750–33,173,178 | 5.3 kb | Proximal (<10kb) Multiome | 359 | |
| chr9:33,264,068–33,265,475 | 97.5 kb | Distal (>10kb) Multiome | 790 | |
| chr9:33,267,199–33,267,770 | 100.1 kb | Distal (>10kb) Multiome | 106 | |
| chr9:33,290,056–33,291,152 | 123.1 kb | Distal (>10kb) Multiome | 1075 | |
| chr9:33,381,203–33,381,714 | 214.2 kb | Distal (>10kb) Multiome | 134 | |
| chr9:33,415,341–33,415,979 | 248.3 kb | Distal (>10kb) Multiome | 774 | |
| chr9:33,447,056–33,448,058 | 280.3 kb | Distal (>10kb) Multiome | 547 | |
| chr9:33,452,742–33,453,295 | 285.7 kb | Distal (>10kb) Multiome | 374 |
Genomic view of the B4GALT1 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.