Adenylate kinase isoenzyme 1

Adenylate kinase isoenzyme 1 (AK1) is a 194-amino acid phosphotransferase that catalyzes reversible transfer of the terminal phosphate group between ATP and AMP, playing a central role in cellular energy homeostasis and adenine nucleotide metabolism (UniProt: P00568). The enzyme also displays broad nucleoside diphosphate kinase activity and can catalyze thiamine triphosphate synthesis at very low rates. AK1 is associated with congenital non-spherocytic hemolytic anemia (CNSHA3, MIM 612631), an autosomal recessive condition characterized by hemolytic anemia and erythrocyte adenylate kinase deficiency (UniProt: P00568).

AK1 is relevant to Alzheimer's Disease pathology. In human post-mortem AD brain tissue compared to age-matched controls, AK1 protein levels are elevated (mean log2FC = 1.0949) in subcellular fractions analyzed by TMT-labeled mass spectrometry (Chaparral AD proteomics). This upregulation may reflect compensatory responses to energy metabolism disruption or changes in subcellular compartmentalization characteristic of AD neurodegeneration.