Recombinant Human Adenylate kinase isoenzyme 1 (AK1)

Uniprot Id

P00568

Target Species

Human

Target Name

AK1

Target Full Name

Adenylate kinase isoenzyme 1

Target Function

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.

Target Involvement

Hemolytic anemia due to adenylate kinase deficiency (HAAKD)

Target Subcellular Location

Cytoplasm.

Target Protein Families

Adenylate kinase family, AK1 subfamily

Target Research Area

Cardiovascular

Target Synonyms

Adenylate kinase 1; Adenylate kinase isoenzyme 1; Adenylate kinase soluble; AK 1; Ak1; ATP AMP transphosphorylase; ATP-AMP transphosphorylase 1; KAD1; KAD1_HUMAN; Myokinase

Target Background

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. This gene shares readthrough transcripts with the upstream ST6GALNAC6 gene.