Adenylate kinase 1

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

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

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].

Further reading

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

This article incorporates text from the United States National Library of Medicine, which is in the public domain.