The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for ABHD5. 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 = ABHD5 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 ABHD5, 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 |
|---|---|---|---|---|
| chr3:43,621,324–43,622,834 | 68.7 kb | Distal (>10kb) Multiome | 732 | |
| chr3:43,690,073–43,691,843 | 39 bp | At TSS Multiome | 1058 | |
| chr3:43,693,076–43,693,623 | 2.2 kb | Proximal (<10kb) | 89 | |
| chr3:43,764,012–43,764,781 | 73.4 kb | Distal (>10kb) Multiome | 49 | |
| chr3:43,769,314–43,770,184 | 78.8 kb | Distal (>10kb) Multiome | 539 | |
| chr3:43,893,899–43,895,059 | 203.5 kb | Distal (>10kb) Multiome | 362 |
Genomic view of the ABHD5 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.