This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]
Transcription factors with Perturb-seq knockdown data for BCAT1. 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 = BCAT1 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 BCAT1, 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 |
|---|---|---|---|---|
| chr12:24,851,199–24,852,254 | 97.2 kb | Distal (>10kb) Multiome HiCAR | 127 | |
| chr12:24,888,740–24,889,719 | 60.1 kb | Distal (>10kb) Multiome | 50 | |
| chr12:24,901,813–24,903,614 | 46.8 kb | Distal (>10kb) Multiome HiCAR | 329 | |
| chr12:24,904,714–24,905,226 | 1.6 kb | Proximal (<10kb) | 46 | |
| chr12:24,946,593–24,946,746 | 2.4 kb | Proximal (<10kb) | 176 | |
| chr12:24,946,968–24,947,430 | 2.0 kb | Proximal (<10kb) Multiome | 383 | |
| chr12:24,948,286–24,949,505 | 36 bp | At TSS Multiome HiCAR | 834 | |
| chr12:24,950,116–24,950,798 | 1.0 kb | Proximal (<10kb) | 257 | |
| chr12:24,951,712–24,952,252 | 2.6 kb | Proximal (<10kb) | 314 | |
| chr12:24,953,929–24,954,769 | 5.3 kb | Proximal (<10kb) Multiome | 128 | |
| chr12:24,955,963–24,956,281 | 6.9 kb | Proximal (<10kb) | 27 | |
| chr12:24,963,126–24,963,906 | 14.4 kb | Distal (>10kb) Multiome | 70 | |
| chr12:25,194,832–25,195,643 | 246.1 kb | Distal (>10kb) Multiome | 778 | |
| chr12:26,065,293–26,065,889 | 1116.6 kb | Distal (>10kb) Multiome HiCAR | 70 |
Genomic view of the BCAT1 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.