The mouse homolog of this gene produces fused toes and thymic hyperplasia in heterozygous mutant animals while homozygous mutants die in early development. This gene may play a role in apoptosis as these morphological abnormalities are caused by altered patterns of programmed cell death. The protein encoded by this gene is similar to the ubiquitin ligase domain of other ubiquitin-conjugating enzymes but lacks the conserved cysteine residue that enables those enzymes to conjugate ubiquitin to the target protein. This protein interacts directly with serine/threonine kinase protein kinase B (PKB)/Akt and modulates PKB activity by enhancing the phosphorylation of PKB's regulatory sites. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for AKTIP. 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 = AKTIP 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 AKTIP, 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 |
|---|---|---|---|---|
| chr16:53,207,832–53,208,752 | 294.8 kb | Distal (>10kb) Multiome | 483 | |
| chr16:53,433,981–53,435,683 | 68.7 kb | Distal (>10kb) Multiome | 929 | |
| chr16:53,502,382–53,504,919 | 229 bp | At TSS Multiome | 983 | |
| chr16:53,510,334–53,510,737 | 7.1 kb | Proximal (<10kb) | 378 | |
| chr16:53,511,226–53,511,675 | 8.0 kb | Proximal (<10kb) | 414 | |
| chr16:53,703,446–53,704,426 | 200.8 kb | Distal (>10kb) Multiome | 861 |
Genomic view of the AKTIP 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.