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AK1 / Adenylate kinase 1  Protein

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    AK1 / Adenylate kinase 1 Summary & Protein Information

    AK1 / Adenylate kinase 1 Background

    Gene Summary: Adenylate kinase is an enzyme involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate group among adinine nucleotides. Three isozymes of adenylate kinase have been identified in vertebrates, adenylate isozyme 1 (AK1), 2 (AK2) and 3 (AK3). AK1 is found in the cytosol of skeletal muscle, brain and erythrocytes, whereas AK2 and AK3 are found in the mitochondria of other tissues including liver and heart. AK1 was identified because of its association with a rare genetic disorder causing nonspherocytic hemolytic anemia where a mutation in the AK1 gene was found to reduce the catalytic activity of the enzyme.
    General information above from NCBI
    Catalytic activity: ATP + AMP = 2 ADP. {ECO:0000255|HAMAP-Rule:MF_03171, ECO:0000269|PubMed:23416111}.; ATP + nucleoside diphosphate = ADP + nucleoside triphosphate. {ECO:0000255|HAMAP-Rule:MF_03171, ECO:0000269|PubMed:23416111}.
    Subunit structure: Monomer. {ECO:0000255|HAMAP-Rule:MF_03171, ECO:0000269|Ref.10, ECO:0000269|Ref.11}.
    Domain: Consists of three domains, a large central CORE domain and two small peripheral domains, NMPbind and LID, which undergo movements during catalysis. The LID domain closes over the site of phosphoryl transfer upon ATP binding. Assembling and dissambling the active center during each catalytic cycle provides an effective means to prevent ATP hydrolysis.
    Subcellular location: Cytoplasm.
    Tissue specificity: Expressed in all tissues examined with highest expression in brain, lung, pancreas, and placenta. Expressed in cutaneous T-cell lymphomas (CTCL).
    Involvement in disease: DISEASE: Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]: A disease characterized by hemolytic anemia and undetectable erythrocyte adenylate kinase activity. {ECO:0000269|PubMed:12649162, ECO:0000269|PubMed:2542324, ECO:0000269|PubMed:9432020}. Note=The disease is caused by mutations affecting the gene represented in this entry.
    Sequence similarity: Belongs to the adenylate kinase family. AK1 subfamily. {ECO:0000255|HAMAP-Rule:MF_03171}.
    General information above from UniProt

    AK1 / Adenylate kinase 1 Alternative Name

    HTL-S-58j, [homo-sapiens]
    RP11-203J24.1, [human]
    Ak-1,B430205N08Rik,RP23-17P12.3, [mouse]
    Ak-1,B430205N08Rik, [mus-musculus]

    AK1 / Adenylate kinase 1 Related Studies

  • Lu Q, et al. (1996) Adenylate kinase complements nucleoside diphosphate kinase deficiency in nucleotide metabolism. Proc Natl Acad Sci. 93 (12): 5720-5.
  • Dzeja P, et al. (2009) Adenylate kinase and AMP signaling networks: Metabolic monitoring, signal communication and body energy sensing. Int J Mol Sci. 10 (4): 1729-72.
  • Lagresle-Peyrou C, et al. (2008) Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. Nature Genetics. 41: 106 - 11.