Adenylate Kinase Isoenzyme 1 (AK1) Human Recombinant Protein

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]

AK1: Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Small ubiquitous enzyme involved in energy metabolism and nucleotide synthesis that is essential for maintenance and cell growth. Defects in AK1 are the cause of hemolytic anemia due to adenylate kinase deficiency (HAAKD). Belongs to the adenylate kinase family.

Protein type: Kinase, other; EC 2.7.4.3; EC 2.7.4.6; Nucleotide Metabolism - purine

Chromosomal Location of Human Ortholog: 9q34.1

Cellular Component: cytoplasm; cytosol; outer dense fiber; plasma membrane

Molecular Function: adenylate kinase activity; ATP binding; nucleoside diphosphate kinase activity

Biological Process: ADP biosynthetic process; AMP metabolic process; ATP metabolic process; cell cycle arrest; nucleobase, nucleoside and nucleotide interconversion; nucleobase, nucleoside and nucleotide metabolic process; nucleoside diphosphate phosphorylation; nucleoside triphosphate biosynthetic process

Disease: Adenylate Kinase Deficiency, Hemolytic Anemia Due To