4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for ABAT. 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 = ABAT 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 ABAT, 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 |
|---|---|---|---|---|
| chr16:8,565,417–8,565,961 | 108.9 kb | Distal (>10kb) Multiome | 155 | |
| chr16:8,567,546–8,568,044 | 106.7 kb | Distal (>10kb) Multiome | 605 | |
| chr16:8,588,655–8,589,263 | 85.8 kb | Distal (>10kb) Multiome | 96 | |
| chr16:8,621,400–8,622,171 | 52.9 kb | Distal (>10kb) Multiome | 736 | |
| chr16:8,660,694–8,661,275 | 13.5 kb | Distal (>10kb) Multiome | 325 | |
| chr16:8,665,574–8,665,814 | 8.8 kb | Proximal (<10kb) | 19 | |
| chr16:8,673,966–8,674,850 | 127 bp | At TSS Multiome | 585 | |
| chr16:8,797,340–8,798,108 | 123.1 kb | Distal (>10kb) Multiome HiCAR | 1028 | |
| chr16:8,831,534–8,832,572 | 157.5 kb | Distal (>10kb) Multiome | 184 | |
| chr16:8,866,241–8,867,974 | 192.0 kb | Distal (>10kb) Multiome | 680 | |
| chr16:8,868,171–8,869,530 | 194.4 kb | Distal (>10kb) Multiome | 934 | |
| chr16:8,963,706–8,964,549 | 289.5 kb | Distal (>10kb) Multiome | 663 | |
| chr16:8,965,943–8,966,445 | 291.6 kb | Distal (>10kb) Multiome | 109 |
Genomic view of the ABAT 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.