The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents. [provided by RefSeq, Jan 2017]
Transcription factors with Perturb-seq knockdown data for STXBP5L. 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 = STXBP5L 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 STXBP5L, 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 |
|---|---|---|---|---|
| chr3:120,622,775–120,623,611 | 285.1 kb | Distal (>10kb) Multiome | 221 | |
| chr3:120,677,217–120,678,016 | 230.8 kb | Distal (>10kb) Multiome | 75 | |
| chr3:120,719,201–120,720,128 | 188.6 kb | Distal (>10kb) Multiome | 147 | |
| chr3:120,741,971–120,743,234 | 165.7 kb | Distal (>10kb) Multiome | 788 | |
| chr3:120,907,532–120,909,144 | 89 bp | At TSS Multiome | 673 | |
| chr3:120,909,424–120,909,756 | 1.2 kb | Proximal (<10kb) | 117 |
Genomic view of the STXBP5L 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.