The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 1, the first member of this gene family that is ubiquitously expressed, and is localized in the nucleus and cytoplasm. Overexpression of antizyme inhibitor 1 gene has been associated with increased proliferation, cellular transformation and tumorigenesis. Gene knockout studies showed that homozygous mutant mice lacking functional antizyme inhibitor 1 gene died at birth with abnormal liver morphology. RNA editing of this gene, predominantly in the liver tissue, has been linked to the progression of hepatocellular carcinoma. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014]
Transcription factors with Perturb-seq knockdown data for AZIN1. 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 = AZIN1 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 AZIN1, 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 |
|---|---|---|---|---|
| chr8:102,600,735–102,601,194 | 263.1 kb | Distal (>10kb) Multiome | 514 | |
| chr8:102,653,614–102,656,985 | 210.1 kb | Distal (>10kb) Multiome | 1123 | |
| chr8:102,806,122–102,807,887 | 56.6 kb | Distal (>10kb) Multiome | 1159 | |
| chr8:102,810,067–102,811,695 | 53.3 kb | Distal (>10kb) Multiome | 1025 | |
| chr8:102,814,226–102,814,970 | 49.4 kb | Distal (>10kb) Multiome | 366 | |
| chr8:102,862,625–102,865,007 | 231 bp | At TSS Multiome | 1106 | |
| chr8:102,906,209–102,906,703 | 42.2 kb | Distal (>10kb) Multiome HiCAR | 254 | |
| chr8:102,961,399–102,961,996 | 97.5 kb | Distal (>10kb) Multiome | 268 | |
| chr8:103,020,472–103,021,647 | 156.9 kb | Distal (>10kb) Multiome | 842 | |
| chr8:103,140,428–103,141,578 | 276.7 kb | Distal (>10kb) Multiome | 259 |
Genomic view of the AZIN1 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.