AK1 Human Recombinant Active Protein

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]

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

Chromosomal Location of Human Ortholog: 9q34.1

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

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

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

Disease: Adenylate Kinase Deficiency, Hemolytic Anemia Due To