The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]
Transcription factors with Perturb-seq knockdown data for BTD. 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 = BTD 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 BTD, 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 |
|---|---|---|---|---|
| chr3:15,305,253–15,306,068 | 296.1 kb | Distal (>10kb) Multiome | 367 | |
| chr3:15,331,772–15,333,155 | 269.1 kb | Distal (>10kb) Multiome | 642 | |
| chr3:15,356,271–15,357,033 | 245.1 kb | Distal (>10kb) Multiome | 98 | |
| chr3:15,377,980–15,378,549 | 223.4 kb | Distal (>10kb) Multiome | 575 | |
| chr3:15,427,190–15,427,854 | 174.2 kb | Distal (>10kb) Multiome | 758 | |
| chr3:15,858,901–15,861,637 | 258.2 kb | Distal (>10kb) Multiome | 981 |
Genomic view of the BTD 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.