This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for AMPD3. 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 = AMPD3 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 AMPD3, 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 |
|---|---|---|---|---|
| chr11:10,293,485–10,294,954 | 156.9 kb | Distal (>10kb) Multiome | 728 | |
| chr11:10,303,927–10,306,992 | 146.0 kb | Distal (>10kb) Multiome | 897 | |
| chr11:10,307,252–10,308,323 | 143.0 kb | Distal (>10kb) Multiome | 800 | |
| chr11:10,309,037–10,310,838 | 141.2 kb | Distal (>10kb) Multiome | 494 | |
| chr11:10,351,409–10,352,676 | 99.0 kb | Distal (>10kb) Multiome | 677 | |
| chr11:10,450,400–10,451,424 | 113 bp | At TSS Multiome | 419 | |
| chr11:10,455,858–10,456,376 | 5.1 kb | Proximal (<10kb) Multiome | 394 | |
| chr11:10,540,488–10,541,619 | 90.3 kb | Distal (>10kb) Multiome | 859 | |
| chr11:10,735,514–10,736,088 | 284.9 kb | Distal (>10kb) Multiome | 637 | |
| chr11:10,750,622–10,751,770 | 300.2 kb | Distal (>10kb) Multiome | 974 |
Genomic view of the AMPD3 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.