This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]
Transcription factors with Perturb-seq knockdown data for PDCD6IP. 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 = PDCD6IP 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 PDCD6IP, 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 |
|---|---|---|---|---|
| chr3:33,439,404–33,441,603 | 358.0 kb | Distal (>10kb) Multiome HiCAR | 1014 | |
| chr3:33,446,268–33,447,578 | 352.0 kb | Distal (>10kb) Multiome HiCAR | 160 | |
| chr3:33,658,997–33,659,827 | 139.3 kb | Distal (>10kb) Multiome | 599 | |
| chr3:33,717,274–33,718,580 | 80.4 kb | Distal (>10kb) Multiome | 885 | |
| chr3:33,787,069–33,787,693 | 11.1 kb | Distal (>10kb) Multiome | 311 | |
| chr3:33,789,231–33,789,619 | 8.9 kb | Proximal (<10kb) | 49 | |
| chr3:33,794,588–33,794,760 | 3.8 kb | Proximal (<10kb) | 2 | |
| chr3:33,798,073–33,799,435 | 338 bp | At TSS Multiome | 1044 | |
| chr3:33,804,156–33,804,537 | 5.6 kb | Proximal (<10kb) | 71 | |
| chr3:34,013,702–34,014,461 | 215.5 kb | Distal (>10kb) Multiome | 155 | |
| chr3:34,033,875–34,034,364 | 235.4 kb | Distal (>10kb) Multiome | 72 | |
| chr3:34,034,478–34,036,446 | 236.5 kb | Distal (>10kb) Multiome | 325 |
Genomic view of the PDCD6IP 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.