AK1 gene

adenylate kinase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

From NCBI Gene:

  • Adenylate kinase deficiency, hemolytic anemia due to

From UniProt:

Hemolytic anemia due to adenylate kinase deficiency (HAAKD): A disease characterized by hemolytic anemia and undetectable erythrocyte adenylate kinase activity. [MIM:612631]

Cytogenetic Location: 9q34.11, which is the long (q) arm of chromosome 9 at position 34.11

Molecular Location: base pairs 127,866,480 to 127,886,749 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9q34.11, which is the long (q) arm of chromosome 9 at position 34.11
  • HTL-S-58j