This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene shares readthrough transcripts with the upstream ST6GALNAC6 gene. [provided by RefSeq, Jan 2022]
Transcription factors with Perturb-seq knockdown data for AK1. 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 = AK1 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 AK1, 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 |
|---|---|---|---|---|
| chr9:127,608,129–127,608,913 | 269.1 kb | Distal (>10kb) Multiome | 700 | |
| chr9:127,611,734–127,612,761 | 265.5 kb | Distal (>10kb) Multiome | 566 | |
| chr9:127,699,155–127,699,632 | 178.2 kb | Distal (>10kb) Multiome | 440 | |
| chr9:127,715,013–127,716,345 | 161.9 kb | Distal (>10kb) Multiome | 735 | |
| chr9:127,734,444–127,735,606 | 142.4 kb | Distal (>10kb) Multiome | 836 | |
| chr9:127,741,739–127,743,092 | 134.8 kb | Distal (>10kb) Multiome HiCAR | 367 | |
| chr9:127,754,123–127,755,506 | 122.3 kb | Distal (>10kb) Multiome | 279 | |
| chr9:127,770,807–127,771,925 | 106.2 kb | Distal (>10kb) Multiome | 550 | |
| chr9:127,784,682–127,787,009 | 91.1 kb | Distal (>10kb) Multiome | 858 | |
| chr9:127,802,385–127,803,632 | 74.7 kb | Distal (>10kb) Multiome | 867 | |
| chr9:127,809,338–127,810,272 | 67.8 kb | Distal (>10kb) Multiome | 276 | |
| chr9:127,825,222–127,826,046 | 52.0 kb | Distal (>10kb) Multiome | 451 | |
| chr9:127,828,234–127,829,024 | 49.1 kb | Distal (>10kb) Multiome | 521 | |
| chr9:127,869,958–127,870,200 | 7.5 kb | Proximal (<10kb) | 373 | |
| chr9:127,877,282–127,878,202 | 76 bp | At TSS Multiome | 531 | |
| chr9:127,897,316–127,897,796 | 19.8 kb | Distal (>10kb) Multiome | 437 | |
| chr9:127,898,861–127,900,094 | 21.9 kb | Distal (>10kb) Multiome | 630 | |
| chr9:127,916,386–127,917,505 | 39.4 kb | Distal (>10kb) Multiome | 474 | |
| chr9:127,926,756–127,928,574 | 49.9 kb | Distal (>10kb) Multiome | 411 | |
| chr9:127,930,321–127,931,068 | 53.1 kb | Distal (>10kb) Multiome | 537 | |
| chr9:127,937,578–127,938,244 | 60.2 kb | Distal (>10kb) Multiome | 674 | |
| chr9:127,955,445–127,955,915 | 77.9 kb | Distal (>10kb) Multiome | 540 | |
| chr9:127,980,172–127,981,966 | 103.4 kb | Distal (>10kb) Multiome | 691 | |
| chr9:128,033,544–128,034,106 | 156.2 kb | Distal (>10kb) Multiome | 69 | |
| chr9:128,034,940–128,035,527 | 157.7 kb | Distal (>10kb) Multiome | 480 | |
| chr9:128,066,577–128,068,774 | 189.7 kb | Distal (>10kb) Multiome | 874 | |
| chr9:128,097,872–128,098,910 | 220.7 kb | Distal (>10kb) Multiome | 712 | |
| chr9:128,117,658–128,118,328 | 240.2 kb | Distal (>10kb) Multiome | 640 | |
| chr9:128,127,314–128,128,793 | 250.6 kb | Distal (>10kb) Multiome | 899 | |
| chr9:128,159,371–128,160,928 | 282.5 kb | Distal (>10kb) Multiome | 824 |
Genomic view of the AK1 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.