This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. This gene is located on chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer (SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and this enzyme is the first member of a new family of zinc-binding enzymes. Mutations in this gene cause aminoacylase-1 deficiency, a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ABHD14A (abhydrolase domain containing 14A) gene, as represented in GeneID:100526760. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Nov 2010]
Transcription factors with Perturb-seq knockdown data for ACY1. 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 = ACY1 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 ACY1, 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 |
|---|---|---|---|---|
| chr3:50,336,856–50,338,227 | 1645.9 kb | Distal (>10kb) Multiome HiCAR | 952 | |
| chr3:50,567,311–50,568,123 | 1415.7 kb | Distal (>10kb) Multiome HiCAR | 376 | |
| chr3:50,568,824–50,569,934 | 1414.2 kb | Distal (>10kb) Multiome HiCAR | 901 | |
| chr3:51,706,614–51,707,579 | 276.5 kb | Distal (>10kb) Multiome | 506 | |
| chr3:51,798,234–51,798,899 | 184.8 kb | Distal (>10kb) Multiome | 120 | |
| chr3:51,800,441–51,801,024 | 182.9 kb | Distal (>10kb) Multiome | 20 | |
| chr3:51,801,591–51,802,872 | 181.1 kb | Distal (>10kb) Multiome | 223 | |
| chr3:51,868,646–51,869,606 | 114.4 kb | Distal (>10kb) Multiome | 50 | |
| chr3:51,941,340–51,942,909 | 41.4 kb | Distal (>10kb) Multiome | 890 | |
| chr3:51,955,723–51,956,827 | 26.9 kb | Distal (>10kb) Multiome | 289 | |
| chr3:51,967,071–51,968,598 | 15.9 kb | Distal (>10kb) Multiome | 581 | |
| chr3:51,973,571–51,975,404 | 9.5 kb | Proximal (<10kb) Multiome | 886 | |
| chr3:51,982,506–51,983,633 | 228 bp | At TSS Multiome | 933 | |
| chr3:51,990,597–51,991,772 | 7.5 kb | Proximal (<10kb) Multiome | 145 | |
| chr3:51,995,468–51,996,121 | 12.5 kb | Distal (>10kb) Multiome | 938 | |
| chr3:52,001,516–52,001,992 | 18.2 kb | Distal (>10kb) Multiome | 448 | |
| chr3:52,055,881–52,058,048 | 74.0 kb | Distal (>10kb) Multiome | 937 | |
| chr3:52,128,194–52,128,700 | 144.9 kb | Distal (>10kb) Multiome | 376 | |
| chr3:52,153,766–52,155,196 | 171.2 kb | Distal (>10kb) Multiome | 896 | |
| chr3:52,197,554–52,198,856 | 214.6 kb | Distal (>10kb) Multiome | 731 | |
| chr3:52,238,767–52,239,716 | 255.8 kb | Distal (>10kb) Multiome | 763 | |
| chr3:52,245,446–52,246,450 | 262.5 kb | Distal (>10kb) Multiome | 553 | |
| chr3:52,277,664–52,279,184 | 295.2 kb | Distal (>10kb) Multiome | 844 |
Genomic view of the ACY1 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.