Aliases for AK1 Gene
External Ids for AK1 Gene
Previous GeneCards Identifiers for AK1 Gene
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. [provided by RefSeq, Dec 2015]
GeneCards Summary for AK1 Gene
AK1 (Adenylate Kinase 1) is a Protein Coding gene. Diseases associated with AK1 include Adenylate Kinase Deficiency, Hemolytic Anemia Due To and Hemolytic Anemia. Among its related pathways are purine nucleotides de novo biosynthesis and ATP/ITP metabolism. Gene Ontology (GO) annotations related to this gene include kinase activity and adenylate kinase activity. An important paralog of this gene is CMPK1.
UniProtKB/Swiss-Prot Summary 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.