Adenylate kinase isoenzyme 1

Consists of three domains, a large central CORE domain and two small peripheral domains, NMPbind and LID, which undergo movements during catalysis. The LID domain closes over the site of phosphoryl transfer upon ATP binding. Assembling and dissambling the active center during each catalytic cycle provides an effective means to prevent ATP hydrolysis.

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 (By similarity) (PubMed:21080915, PubMed:23416111, PubMed:2542324). Also catalyzes at a very low rate the synthesis of thiamine triphosphate (ThTP) from thiamine diphosphate (ThDP) and ADP (By similarity).

Hemolytic anemia due to adenylate kinase deficiency

HAAKD

A disease characterized by hemolytic anemia and undetectable erythrocyte adenylate kinase activity.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the adenylate kinase family. AK1 subfamily.

• Cytoplasm

Adenylate kinase isoenzyme 1, AK 1, ATP-AMP transphosphorylase 1, ATP:AMP phosphotransferase, Adenylate monophosphate kinase, Myokinase, AK1

• entrezGene:203
• omim:103000
• swissprot:P00568

Proteins

Metabolism

21635Da