GeneID: 247

Description:
The AK9 gene encodes a member of the adenylate kinase (AK) family of enzymes, which are involved in the pathway of nucleotide synthesis. They regulate the levels of adenine nucleotides in cells by catalyzing the interconversion of nucleosides (i.e., the reversible transfer of a phosphate group from ATP to AMP through ADP). AKs are involved in energy metabolism. There are nine human AK isoforms of different intracellular location and tissue distribution. AK9 is found in both the cytosol and the nucleus of cells, with high expression levels in pituitary gland, trachea, thymus, testis, mammary gland and moderate expression in brain, pharynx, uterus, spleen and lymph nodes. AKs also show differences in substrate specificity and phosphate donors. AK9 uses AMP, CMP, dAMP and dCMP as substrates, and can accept both ATP and GTP as the phosphate donor. AK9 possesses both nucleoside monophosphate and diphosphate kinase activities, hence it catalyzes the synthesis of both nucleoside diphosphates (e.g., ADP, key role in normal platelet aggregation) and triphosphates (e.g., ATP, main form of cellular energy driving many metabolic reactions). AK9 has a similar catalytic domain and structure to other AK members, but it possesses a longer C-terminal region. Polymorphisms in the AK9 gene have been associated with leukocytosis in sickle cell anaemia.

Synonyms: AK 9 , AKD1 , AKD2 , C6orf199 , C6orf224 , dJ70A9.1

Comments:
N/A

Number of entries/variants: 1

1. Amiri M, Conserva F, Panayiotou C, Karlsson A, Solaroli N, The human adenylate kinase 9 is a nucleoside mono- and diphosphate kinase., Int. J. Biochem. Cell Biol., 45(5), 925-31, 2013 PubMed
2. Panayiotou C, Solaroli N, Karlsson A, The many isoforms of human adenylate kinases., Int. J. Biochem. Cell Biol., 49(0), 75-83, 2014 PubMed
3. Schaefer BA, Flanagan JM, Alvarez OA, Nelson SC, Aygun B, Nottage KA, George A, Roberts CW, Piccone CM, Howard TA, Davis BR, Ware RE, Genetic Modifiers of White Blood Cell Count, Albuminuria and Glomerular Filtration Rate in Children with Sickle Cell Anemia., PLoS ONE , 11(10), e0164364, 2016 PubMed