The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for KDSR. 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 = KDSR 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 KDSR, 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 |
|---|---|---|---|---|
| chr18:63,074,960–63,075,425 | 292.0 kb | Distal (>10kb) Multiome | 388 | |
| chr18:63,138,172–63,139,185 | 228.5 kb | Distal (>10kb) Multiome | 304 | |
| chr18:63,290,280–63,291,260 | 76.4 kb | Distal (>10kb) Multiome | 134 | |
| chr18:63,317,892–63,318,708 | 49.0 kb | Distal (>10kb) Multiome | 432 | |
| chr18:63,319,616–63,321,341 | 47.0 kb | Distal (>10kb) Multiome | 620 | |
| chr18:63,365,958–63,368,108 | 292 bp | At TSS Multiome | 1040 | |
| chr18:63,421,682–63,423,287 | 55.3 kb | Distal (>10kb) Multiome | 939 |
Genomic view of the KDSR 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.