This gene encodes a PDZ domain-containing scaffolding protein. PDZ domain-containing molecules bind to and mediate the subcellular localization of target proteins. The encoded protein mediates the localization of cell surface proteins and plays a critical role in cholesterol metabolism by regulating the HDL receptor, scavenger receptor class B type 1. Single nucleotide polymorphisms in this gene may be associated with metabolic syndrome, and overexpression of this gene may play a role in drug resistance of multiple myeloma. Pseudogenes of this gene are located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Transcription factors with Perturb-seq knockdown data for PDZK1. 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 = PDZK1 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 PDZK1, 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 |
|---|---|---|---|---|
| chr1:145,425,109–145,426,041 | 282.4 kb | Distal (>10kb) Multiome HiCAR | 406 | |
| chr1:145,465,272–145,465,855 | 242.6 kb | Distal (>10kb) Multiome | 578 | |
| chr1:145,607,803–145,608,364 | 100.1 kb | Distal (>10kb) Multiome | 205 | |
| chr1:145,707,296–145,708,738 | 7 bp | At TSS Multiome | 511 | |
| chr1:145,720,881–145,721,650 | 13.2 kb | Distal (>10kb) Multiome | 548 | |
| chr1:145,823,605–145,824,539 | 115.9 kb | Distal (>10kb) Multiome | 899 | |
| chr1:145,845,315–145,846,128 | 137.6 kb | Distal (>10kb) Multiome | 750 | |
| chr1:145,858,348–145,860,193 | 151.8 kb | Distal (>10kb) Multiome | 828 | |
| chr1:145,885,653–145,886,460 | 177.9 kb | Distal (>10kb) Multiome | 327 | |
| chr1:145,891,718–145,892,684 | 184.0 kb | Distal (>10kb) Multiome | 738 | |
| chr1:145,918,087–145,919,947 | 210.8 kb | Distal (>10kb) Multiome | 724 | |
| chr1:145,926,848–145,927,896 | 219.4 kb | Distal (>10kb) Multiome | 890 | |
| chr1:145,932,283–145,933,321 | 224.6 kb | Distal (>10kb) Multiome | 308 | |
| chr1:145,957,545–145,958,280 | 249.9 kb | Distal (>10kb) Multiome | 631 | |
| chr1:145,960,287–145,961,311 | 252.6 kb | Distal (>10kb) Multiome | 498 | |
| chr1:145,964,302–145,964,971 | 256.5 kb | Distal (>10kb) Multiome | 662 | |
| chr1:145,978,977–145,980,010 | 271.4 kb | Distal (>10kb) Multiome | 689 | |
| chr1:145,996,493–145,997,058 | 288.6 kb | Distal (>10kb) Multiome | 911 |
Genomic view of the PDZK1 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.