Adenylate kinase 1 explained

Adenylate kinase 1 is a protein that in humans is encoded by the AK1 gene.^[1]

Function

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].

See also

• AK-1

Further reading

• Corrons JL, Garcia E, Tusell JJ, Varughese KI, West C, Beutler E . Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia . Blood . 102 . 1 . 353–6 . July 2003 . 12649162 . 10.1182/blood-2002-07-2288 . free .
• Quillen EE, Haslam GC, Samra HS, Amani-Taleshi D, Knight JA, Wyatt DE, Bishop SC, Colvert KK, Richter ML, Kitos PA . Ectoadenylate kinase and plasma membrane ATP synthase activities of human vascular endothelial cells . J. Biol. Chem. . 281 . 30 . 20728–37 . July 2006 . 16714292 . 10.1074/jbc.M513042200 . free .
• Topalis D, Alvarez K, Barral K, Munier-Lehmann H, Schneider B, Véron M, Guerreiro C, Mulard L, El-Amri C, Canard B, Deville-Bonne D . Acyclic phosphonate nucleotides and human adenylate kinases: impact of a borano group on alpha-P position . Nucleosides Nucleotides Nucleic Acids . 27 . 4 . 319–31 . April 2008 . 18404568 . 10.1080/15257770801941952 . 23819055 .
• Gloria-Bottini F, Magrini A, Pietropolli A, Bergamaschi A, Bottini E . Smoking and human reproduction: the effect of adenylate kinase genetic polymorphism . Am J Perinatol . 26 . 2 . 117–21 . February 2009 . 18850517 . 10.1055/s-0028-1091393 . 259998534 .
• Gloria-Bottini F, Magrini A, Pietropolli A, Bergamaschi A, Bottini E . Smoking and human reproduction: the effect of adenylate kinase genetic polymorphism . Am J Perinatol . 26 . 2 . 117–21 . February 2009 . 18850517 . 10.1055/s-0028-1091393 . 259998534 .
• Martins-de-Souza D, Gattaz WF, Schmitt A, Rewerts C, Maccarrone G, Dias-Neto E, Turck CW . Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia . Eur Arch Psychiatry Clin Neurosci . 259 . 3 . 151–63 . April 2009 . 19165527 . 10.1007/s00406-008-0847-2 . 33815571 .
• Gloria-Bottini F, Antonacci E, Cozzoli E, De Acetis C, Bottini E . The effect of genetic variability on the correlation between blood glucose and glycated hemoglobin levels . Metab. Clin. Exp. . 60 . 2 . 250–5 . February 2011 . 20152999 . 10.1016/j.metabol.2010.01.003 .
• Eckardt K, Schober A, Platzbecker B, Mracek T, Bing C, Trayhurn P, Eckel J . The adipokine zinc-α2-glycoprotein activates AMP kinase in human primary skeletal muscle cells . Arch. Physiol. Biochem. . 117 . 2 . 88–93 . May 2011 . 21457004 . 10.3109/13813455.2011.560950 . 41995734 .
• Fulvia GB, Antonio P, Anna N, Patrizia S, Ada A, Egidio B, Andrea M . Adenylate kinase locus 1 polymorphism and feto-placental development . Eur. J. Obstet. Gynecol. Reprod. Biol. . 159 . 2 . 273–5 . December 2011 . 21831515 . 10.1016/j.ejogrb.2011.07.043 .

Notes and References

1. Web site: Entrez Gene: Adenylate kinase 1. 2018-10-13.