This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with cognitive disability, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
Transcription factors with Perturb-seq knockdown data for PAFAH1B3. 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 = PAFAH1B3 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 PAFAH1B3, 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 |
|---|---|---|---|---|
| chr19:42,075,557–42,076,657 | 226.7 kb | Distal (>10kb) Multiome | 846 | |
| chr19:42,095,735–42,096,278 | 206.7 kb | Distal (>10kb) Multiome | 107 | |
| chr19:42,132,949–42,133,545 | 169.5 kb | Distal (>10kb) Multiome | 447 | |
| chr19:42,176,787–42,177,398 | 125.6 kb | Distal (>10kb) Multiome | 381 | |
| chr19:42,216,521–42,218,719 | 85.1 kb | Distal (>10kb) Multiome | 841 | |
| chr19:42,219,693–42,220,678 | 82.5 kb | Distal (>10kb) Multiome | 735 | |
| chr19:42,241,985–42,243,820 | 59.8 kb | Distal (>10kb) Multiome | 891 | |
| chr19:42,244,086–42,245,258 | 57.9 kb | Distal (>10kb) Multiome | 768 | |
| chr19:42,253,030–42,256,178 | 48.9 kb | Distal (>10kb) Multiome | 900 | |
| chr19:42,267,812–42,269,463 | 33.9 kb | Distal (>10kb) Multiome | 887 | |
| chr19:42,279,620–42,280,909 | 22.7 kb | Distal (>10kb) Multiome | 818 | |
| chr19:42,283,173–42,285,280 | 18.7 kb | Distal (>10kb) Multiome | 739 | |
| chr19:42,295,924–42,296,351 | 6.4 kb | Proximal (<10kb) | 397 | |
| chr19:42,301,842–42,303,114 | 167 bp | At TSS Multiome | 858 | |
| chr19:42,313,206–42,313,892 | 10.8 kb | Distal (>10kb) Multiome | 515 | |
| chr19:42,323,530–42,326,402 | 22.7 kb | Distal (>10kb) Multiome | 833 | |
| chr19:42,386,878–42,387,621 | 84.5 kb | Distal (>10kb) Multiome | 602 | |
| chr19:42,396,430–42,397,663 | 94.2 kb | Distal (>10kb) Multiome | 585 | |
| chr19:42,401,221–42,402,278 | 99.0 kb | Distal (>10kb) Multiome | 475 | |
| chr19:42,422,934–42,424,367 | 121.0 kb | Distal (>10kb) Multiome | 439 |
Genomic view of the PAFAH1B3 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.