This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011]
Transcription factors with Perturb-seq knockdown data for HLCS. 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 = HLCS 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 HLCS, 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 |
|---|---|---|---|---|
| chr21:36,692,749–36,693,492 | 296.9 kb | Distal (>10kb) Multiome | 164 | |
| chr21:36,701,008–36,701,642 | 288.9 kb | Distal (>10kb) Multiome | 242 | |
| chr21:36,747,471–36,748,528 | 242.4 kb | Distal (>10kb) Multiome | 325 | |
| chr21:36,959,406–36,959,781 | 6.9 kb | Proximal (<10kb) | 24 | |
| chr21:36,965,990–36,967,232 | 23.6 kb | Distal (>10kb) Multiome | 770 | |
| chr21:36,980,594–36,981,119 | 9.1 kb | Proximal (<10kb) | 284 | |
| chr21:36,989,570–36,990,911 | 169 bp | At TSS Multiome | 1026 | |
| chr21:36,994,642–36,994,798 | 4.4 kb | Proximal (<10kb) | 82 | |
| chr21:37,006,026–37,007,215 | 16.4 kb | Distal (>10kb) Multiome | 280 | |
| chr21:37,041,546–37,042,235 | 51.8 kb | Distal (>10kb) Multiome | 119 | |
| chr21:37,072,329–37,074,488 | 82.8 kb | Distal (>10kb) Multiome | 994 | |
| chr21:37,220,678–37,221,494 | 231.0 kb | Distal (>10kb) Multiome | 881 | |
| chr21:37,257,305–37,258,840 | 267.9 kb | Distal (>10kb) Multiome | 787 | |
| chr21:37,266,801–37,268,388 | 277.3 kb | Distal (>10kb) Multiome | 1079 |
Genomic view of the HLCS 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.