Aliases for AK1 Gene
External Ids for AK1 Gene
Adenylate kinase is an enzyme involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate group among adinine nucleotides. Three isozymes of adenylate kinase have been identified in vertebrates, adenylate isozyme 1 (AK1), 2 (AK2) and 3 (AK3). AK1 is found in the cytosol of skeletal muscle, brain and erythrocytes, whereas AK2 and AK3 are found in the mitochondria of other tissues including liver and heart. AK1 was identified because of its association with a rare genetic disorder causing nonspherocytic hemolytic anemia where a mutation in the AK1 gene was found to reduce the catalytic activity of the enzyme. [provided by RefSeq, Jul 2008]
GeneCards Summary for AK1 Gene
AK1 (Adenylate Kinase 1) is a Protein Coding gene. Diseases associated with AK1 include hemolytic anemia due to adenylate kinase deficiency and hemolytic anemia. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include nucleoside diphosphate kinase activity and adenylate kinase activity. An important paralog of this gene is CMPK1.
UniProtKB/Swiss-Prot for AK1 Gene
Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays broad nucleoside diphosphate kinase activity. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism.