This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009]
Transcription factors with Perturb-seq knockdown data for C1GALT1C1. 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 = C1GALT1C1 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 C1GALT1C1, 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 |
|---|---|---|---|---|
| chrX:120,468,789–120,469,502 | 160.8 kb | Distal (>10kb) Multiome | 589 | |
| chrX:120,485,807–120,486,482 | 143.9 kb | Distal (>10kb) Multiome | 698 | |
| chrX:120,560,301–120,561,794 | 68.9 kb | Distal (>10kb) Multiome | 727 | |
| chrX:120,603,687–120,604,407 | 26.0 kb | Distal (>10kb) Multiome | 581 | |
| chrX:120,629,690–120,630,593 | 59 bp | At TSS Multiome | 673 |
Genomic view of the C1GALT1C1 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.