Adenylate kinase 1

Adenylate kinase 1 (AK1) is an enzyme that plays a crucial role in the cellular metabolism process. It is involved in the transfer of phosphate groups from adenosine triphosphate (ATP) to adenosine monophosphate (AMP) to yield two adenosine diphosphate (ADP) molecules. This reaction is vital for maintaining the energy balance within the cell.

Structure

AK1 is a small monomeric enzyme composed of 194 amino acids. It has a core structure that consists of a central five-stranded beta sheet flanked by six alpha helices. The enzyme has a large binding pocket for ATP and AMP, which allows it to carry out its function.

Function

The primary function of AK1 is to maintain the homeostasis of cellular adenine nucleotides, which are the building blocks of DNA and RNA. It does this by catalyzing the interconversion of adenine nucleotides, and by doing so, it plays a critical role in cellular energy metabolism and nucleotide synthesis.

Clinical significance

Mutations in the AK1 gene can lead to a rare genetic disorder known as Adenylate Kinase Deficiency or Hemolytic Anemia. This condition is characterized by a decrease in the number of red blood cells due to their premature destruction, leading to anemia.

See also

• Adenylate kinase
• Adenylate Kinase Deficiency
• Hemolytic Anemia