The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]
Transcription factors with Perturb-seq knockdown data for SLC33A1. 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 = SLC33A1 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 SLC33A1, 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 |
|---|---|---|---|---|
| chr3:155,362,992–155,363,934 | 491.0 kb | Distal (>10kb) Multiome HiCAR | 308 | |
| chr3:155,744,096–155,745,472 | 110.2 kb | Distal (>10kb) Multiome | 726 | |
| chr3:155,745,739–155,746,446 | 108.2 kb | Distal (>10kb) Multiome | 309 | |
| chr3:155,805,529–155,806,648 | 48.2 kb | Distal (>10kb) Multiome | 810 | |
| chr3:155,853,753–155,855,235 | 174 bp | At TSS Multiome | 1097 | |
| chr3:155,862,681–155,862,854 | 8.3 kb | Proximal (<10kb) | 104 | |
| chr3:155,869,838–155,871,872 | 16.1 kb | Distal (>10kb) Multiome | 931 | |
| chr3:155,980,533–155,981,958 | 126.7 kb | Distal (>10kb) Multiome | 149 |
Genomic view of the SLC33A1 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.