Adenylate kinase 1

AK1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1Z83, 2C95
Identifiers
Aliases	AK1, HTL-S-58j, adenylate kinase 1
External IDs	OMIM: 103000 MGI: 87977 HomoloGene: 20135 GeneCards: AK1
Gene location (Human) Chr. Chromosome 9 (human) Band 9q34.11 Start 127,866,486 bp End 127,877,675 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2 B|2 22.09 cM Start 32,511,770 bp End 32,525,070 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle right uterine tube left ventricle hypothalamus skeletal muscle tissue amygdala substantia nigra caudate nucleus hippocampus proper nucleus accumbens Top expressed in extensor digitorum longus muscle plantaris muscle triceps brachii muscle sternocleidomastoid muscle temporal muscle digastric muscle vastus lateralis muscle triceps surae ankle thoracic diaphragm More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity nucleotide binding kinase activity nucleobase-containing compound kinase activity nucleoside diphosphate kinase activity ATP binding adenylate kinase activity Cellular component extracellular exosome cytoplasm cytosol Biological process nucleobase-containing small molecule interconversion phosphorylation nucleoside diphosphate phosphorylation ATP metabolic process nucleoside triphosphate biosynthetic process nucleobase-containing compound metabolic process ADP biosynthetic process AMP metabolic process nucleoside monophosphate phosphorylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 203 11636 Ensembl ENSG00000106992 ENSMUSG00000026817 UniProt P00568 Q9R0Y5 RefSeq (mRNA) NM_000476 NM_001318121 NM_001318122 NM_001198790 NM_001198791 NM_001198792 NM_021515 RefSeq (protein) NP_000467 NP_001305050 NP_001305051 NP_001185719 NP_001185720 NP_001185721 NP_067490 Location (UCSC) Chr 9: 127.87 – 127.88 Mb Chr 2: 32.51 – 32.53 Mb PubMed search
Wikidata
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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].

See also

• AK-1

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. S2CID 23819055.
• 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. S2CID 259998534.
• 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. S2CID 259998534.
• 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. S2CID 33815571.
• 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. S2CID 41995734.
• 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.