PRKAA1
protein kinase AMP-activated catalytic subunit alpha 1
Summary
The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs368455500 | 5:40,762,950 | G/A | — | uncertain significance |
| rs1394656931 | 5:40,762,971 | G/A | — | uncertain significance |
| rs1249689552 | 5:40,763,042 | A/C | — | uncertain significance |
| rs377722592 | 5:40,763,079 | G/A | — | uncertain significance |
| rs371307629 | 5:40,763,109 | G/C | — | uncertain significance |
| rs2531027636 | 5:40,763,122 | C/T | — | uncertain significance |
| rs773894144 | 5:40,764,621 | A/C | — | uncertain significance |
| rs778987497 | 5:40,764,703 | G/T | — | uncertain significance |
| rs146544425 | 5:40,764,876 | T/C | — | likely benign |
| rs201118044 | 5:40,765,002 | T/C | — | conflicting classifications of pathogenicity |
| rs371800275 | 5:40,765,095 | C/T | — | uncertain significance |
| rs56138995 | 5:40,765,217 | T/C | — | benign |
| rs6882903 | 5:40,765,862 | A/C | — | — |
| rs2531047899 | 5:40,767,655 | G/A | — | uncertain significance |
| rs370952627 | 5:40,769,562 | A/G | — | benign |
| rs975410782 | 5:40,771,926 | G/C | — | uncertain significance |
| rs201703990 | 5:40,775,044 | C/A | — | uncertain significance |
| rs571640390 | 5:40,787,461 | C/T | — | — |
| rs10074991 | 5:40,790,551 | G/A | upstream gene variant | — |
| rs13361707 | 5:40,791,884 | C/T | regulatory region variant | — |
| rs3805489 | 5:40,793,344 | T/G | upstream gene variant | — |
| rs154268 | 5:40,795,868 | C/T | intron variant | — |
| rs3805486 | 5:40,796,045 | A/T | — | — |
| rs143038748 | 5:40,797,258 | G/A | regulatory region variant | — |
| rs749919427 | 5:40,798,239 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.