AK1
adenylate kinase 1
Summary
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]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs72752884 | 9:130,628,500 | C/T | — | — |
| rs2070693 | 9:130,629,927 | C/T | downstream gene variant | — |
| rs4226 | 9:130,630,233 | T/G | — | benign |
| rs190164259 | 9:130,630,337 | C/G | — | uncertain significance |
| rs201453879 | 9:130,630,342 | C/A | — | uncertain significance |
| rs150064330 | 9:130,630,350 | G/A | — | likely benign |
| rs7031929 | 9:130,630,373 | G/A | — | benign |
| rs6478799 | 9:130,630,430 | A/G | — | benign |
| rs115263629 | 9:130,630,589 | G/A | — | likely benign |
| rs375517545 | 9:130,630,605 | G/A | — | uncertain significance |
| rs766113940 | 9:130,630,610 | A/G | — | uncertain significance |
| rs137853203 | 9:130,630,625 | T/C | missense variant | pathogenic |
| rs35902264 | 9:130,630,632 | C/T | — | likely benign |
| rs148619036 | 9:130,630,633 | G/A | — | likely benign |
| rs913986 | 9:130,630,639 | A/G | — | benign |
| rs770141221 | 9:130,630,666 | C/T | — | likely benign |
| rs1443602211 | 9:130,630,704 | G/A | — | uncertain significance |
| rs7032134 | 9:130,630,707 | C/T | — | uncertain significance |
| rs766170104 | 9:130,630,708 | G/A | — | likely benign |
| rs1338494405 | 9:130,630,721 | C/T | — | likely pathogenic |
| rs104894101 | 9:130,630,734 | G/A | missense variant | pathogenic |
| rs8192462 | 9:130,630,749 | C/G | — | benign |
| rs145431113 | 9:130,630,800 | G/A | — | likely benign |
| rs743540 | 9:130,633,899 | G/C | — | benign |
| rs743539 | 9:130,633,904 | T/G | — | benign |
| rs104894102 | 9:130,634,107 | G/A | stop gained | pathogenic |
| rs372237345 | 9:130,634,108 | C/T | — | likely benign |
| rs2131401746 | 9:130,634,125 | G/T | — | pathogenic |
| rs931317223 | 9:130,634,138 | C/T | — | likely benign |
| rs746592337 | 9:130,634,160 | C/A | — | uncertain significance |
| rs147616730 | 9:130,634,172 | T/C | — | uncertain significance |
| rs73669436 | 9:130,634,180 | G/C | — | likely benign |
| rs372248359 | 9:130,634,188 | T/C | — | uncertain significance |
| rs1235797866 | 9:130,634,195 | C/T | — | likely benign |
| rs766671097 | 9:130,634,197 | G/A | — | uncertain significance |
| rs743537 | 9:130,634,944 | T/C | — | benign |
| rs2539167620 | 9:130,634,977 | C/A | — | uncertain significance |
| rs137853205 | 9:130,634,986 | C/T | missense variant | pathogenic |
| rs61742069 | 9:130,634,990 | C/T | — | benign |
| rs1829443751 | 9:130,635,015 | C/A | — | uncertain significance |
| rs528369830 | 9:130,635,018 | C/T | — | uncertain significance |
| rs61741083 | 9:130,635,023 | C/T | — | likely benign |
| rs373354444 | 9:130,635,028 | C/T | — | uncertain significance |
| rs137853204 | 9:130,635,058 | C/T | missense variant | pathogenic |
| rs61741075 | 9:130,635,074 | G/A | — | likely benign |
| rs150701679 | 9:130,635,091 | C/T | — | uncertain significance |
| rs140001307 | 9:130,635,098 | C/G | — | uncertain significance |
| rs368299963 | 9:130,635,121 | A/C | — | uncertain significance |
| rs74522986 | 9:130,635,148 | C/T | — | benign |
| rs2131404992 | 9:130,635,285 | C/T | — | likely benign |
| rs773827161 | 9:130,635,296 | G/A | — | likely benign |
| rs1275149867 | 9:130,635,349 | G/A | — | uncertain significance |
| rs2767398 | 9:130,635,540 | A/G | — | benign |
| rs748786472 | 9:130,635,661 | G/A | — | likely benign |
| rs116301334 | 9:130,635,716 | G/A | — | likely benign |
| rs537261312 | 9:130,636,879 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.