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    ADK adenosine kinase [ Homo sapiens ]

    Gene ID: 132, updated on 12-May-2012
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    Summary

    Official Symbol
    ADKprovided by HGNC
    Official Full Name
    adenosine kinaseprovided by HGNC
    Primary source
    HGNC:257
    See related
    Ensembl:ENSG00000156110; HPRD:00039; MIM:102750; Vega:OTTHUMG00000018506
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AK
    Summary
    This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
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    Genomic context

    Location :
    10q22; 10q11-q24
    Sequence :
    Chromosome: 10; NC_000010.10 (75910943..76469061)
    See ADK in Epigenomics, MapViewer

    Chromosome 10 - NC_000010.10Genomic Context describing neighboring genes Neighboring gene vinculin Neighboring gene adaptor-related protein complex 3, mu 1 subunit Neighboring gene RAB5C, member RAS oncogene family pseudogene Neighboring gene ribosomal protein SA pseudogene 6 Neighboring gene mitochondrial ribosomal protein L35 pseudogene 3 Neighboring gene polymerase (RNA) III (DNA directed) polypeptide D, 44kDa pseudogene Neighboring gene family with sequence similarity 32, member C (pseudogene) Neighboring gene K(lysine) acetyltransferase 6B

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Overexpression of ADK in human astrocytic tumors and peritumoral tissue is related to tumor-associated epilepsy. de Groot M, et al. Epilepsia, 2012 Jan. PMID 22092111.
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    3. Upregulation of adenosine kinase in astrocytes in experimental and human temporal lobe epilepsy. Aronica E, et al. Epilepsia, 2011 Sep. PMID 21635241.
    4. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    5. Manipulation of adenosine kinase affects sleep regulation in mice. Palchykova S, et al. J Neurosci, 2010 Sep 29. PMID 20881134.

    See all (27) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Data show that we a significantly higher expression of ADK in the peritumoral infiltrated tissue of patients with epilepsy than in patients without epilepsy.
      Title: Overexpression of ADK in human astrocytic tumors and peritumoral tissue is related to tumor-associated epilepsy.
    2. The results of this study suggested that dysregulation of ADK in astrocytes is a common pathologic hallmark of temporal lobe epilepsy.
      Title: Upregulation of adenosine kinase in astrocytes in experimental and human temporal lobe epilepsy.
    3. The cytoplasmic isoform of adenosine kinase is sufficient to alter sleep physiology. ADK might orchestrate neurotransmitter pathways involved in the generation of electroencephlogram oscillations and regulation of sleep.
      Title: Manipulation of adenosine kinase affects sleep regulation in mice.
    4. The catalytic properties, gene expression and protein levels of certain proteins involved in mitochondrial ATP synthesis, such as F1F0-ATPase, ANT and AK, in human skin fibroblasts with trisomic karyotype, compared them with euploid fibroblasts.
      Title: Impairment of F1F0-ATPase, adenine nucleotide translocator and adenylate kinase causes mitochondrial energy deficit in human skin fibroblasts with chromosome 21 trisomy.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Contribution of adenosine related genes to the risk of depression with disturbed sleep.
    6. This study reports for the first time subcellular localization of the enzyme AdK in mammalian cells.
      Title: Subcellular localization of adenosine kinase in mammalian cells: The long isoform of AdK is localized in the nucleus.
    7. both deoxycytidine kinase and adenosine kinase are involved in this model of ADA deficiency
      Title: Inhibition of deoxynucleoside kinases in human thymocytes prevents dATP accumulation and induction of apoptosis.
    8. adenosine kinase gene expression was significantly higher in cancer than in normal-appearing tissue, in line with our previous measurements of adenosine kinase enzyme activities in colorectal tumor samples
      Title: Adenosine kinase gene expression in human colorectal cancer.
    9. role for HIF-1alpha in transcriptional repression of AK in hypoxia
      Title: HIF-1-dependent repression of adenosine kinase attenuates hypoxia-induced vascular leak.
    10. Equilibrative nucleoside transporters (hENT1, hENT2) together with adenosine kinase and 5'-nucleotidase play a crucial role in the regulation of CFTR through an adenosine-dependent pathway in human airway epithelia.
      Title: Coupling of CFTR-mediated anion secretion to nucleoside transporters and adenosine homeostasis in Calu-3 cells.
    Submit: New GeneRIF Correction
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Hypermethioninemia due to adenosine kinase deficiency

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:106644 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the ADK gene: The ADK gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, C.elegans, S.cerevisiae, K.lactis, , S.pombe, , N.crassa, A.thaliana, and rice.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of nucleotides, organism-specific biosystem (from REACTOME)
      Metabolism of nucleotides, organism-specific biosystemNucleotides and their derivatives are used for short-term energy storage (ATP, GTP), for intra- and extra-cellular signaling (cAMP; adenosine), as enzyme cofactors (NAD, FAD), and for the synthesis o...
    • Purine metabolism, organism-specific biosystem (from KEGG)
      Purine metabolism, organism-specific biosystem
      Purine metabolism
    • Purine metabolism, organism-specific biosystem (from REACTOME)
      Purine metabolism, organism-specific biosystemThe events of human purine metabolism are conveniently, if somewhat arbitrarily, grouped into four pathways: de novo synthesis of inosine 5'-monophosphate (IMP), the biosynthesis of other purine ribo...
    • Purine metabolism, conserved biosystem (from KEGG)
      Purine metabolism, conserved biosystem
      Purine metabolism
    • Purine salvage, organism-specific biosystem (from REACTOME)
      Purine salvage, organism-specific biosystemNucleosides and free bases generated by DNA and RNA breakdown are converted back to nucleotide monophosphates, allowing them to re-enter the pathway of purine biosynthesis. Nucleosides and free bases...
    • adenine and adenosine salvage VI, organism-specific biosystem (from BIOCYC)
      adenine and adenosine salvage VI, organism-specific biosystemAdenosine nucleotides can be synthesized de novo. In that route : AMP (AMP) is synthesized via : IMP (IMP) and : ADENYLOSUCC , which is converted to AMP by the action of : ASL-MONOMER (see : PWY-6126...
    • adenine and adenosine salvage VI, conserved biosystem (from BIOCYC)
      adenine and adenosine salvage VI, conserved biosystemAdenosine nucleotides can be synthesized de novo. In that route |FRAME: AMP| (AMP) is synthesized via |FRAME: IMP| (IMP) and |FRAME: ADENYLOSUCC| , which is converted to AMP by the action of |FRAME: ...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    adenosine kinase activity EXP
    Inferred from Experiment
    more info
    		  
    kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    phosphotransferase activity, alcohol group as acceptor IEA
    Inferred from Electronic Annotation
    more info
    		  
    transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    AMP biosynthetic process EXP
    Inferred from Experiment
    more info
    		  
    AMP biosynthetic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    adenosine metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    dATP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleobase-containing small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    positive regulation of T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    purine base metabolic process TAS
    Traceable Author Statement
    more info
    		  
    purine ribonucleoside salvage IEA
    Inferred from Electronic Annotation
    more info
    		  
    purine-containing compound salvage TAS
    Traceable Author Statement
    more info
    		  
    ribonucleoside monophosphate biosynthetic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    adenosine kinase
    Names
    adenosine kinase
    adenosine 5'-phosphotransferase
    NP_001114.2
    NP_001189378.1
    NP_001189379.1
    NP_006712.2
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_030484.1 RefSeqGene

      Range
      5001..563119
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001123.3 → NP_001114.2  adenosine kinase isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), alternately referred to as ADK-short, represents the longest transcript and encodes isoform a.
      Source sequence(s)
      AI188809, AK290633, BC003568, BJ989861, BM472149
      Consensus CDS
      CCDS7344.1
      UniProtKB/Swiss-Prot
      P55263
      UniProtKB/TrEMBL
      Q5JQ10
      Related
      ENSP00000361819, OTTHUMP00000019865, ENST00000372734, OTTHUMT00000048765
      Conserved Domains (2) summary
      cd01168
      Location:6 – 339
      Blast Score: 915
      adenosine_kinase; Adenosine kinase (AK) catalyzes the phosphorylation of ribofuranosyl-containing nucleoside analogues at the 5'-hydroxyl using ATP or GTP as the phosphate donor.The physiological function of AK is associated with the regulation of extracellular adenosine ...
      PTZ00247
      Location:9 – 344
      Blast Score: 1189
      PTZ00247; adenosine kinase; Provisional

    2. NM_001202449.1 → NP_001189378.1  adenosine kinase isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform c), compared to isoform a.
      Source sequence(s)
      AI188809, AK290633, AK302706, BC003568, BJ989861, BM472149
      Consensus CDS
      CCDS55717.1
      UniProtKB/TrEMBL
      B7Z800
      UniProtKB/Swiss-Prot
      P55263
      UniProtKB/TrEMBL
      Q5JQ10
      Related
      ENSP00000438321, ENST00000541550
      Conserved Domains (2) summary
      cd01168
      Location:6 – 321
      Blast Score: 854
      adenosine_kinase; Adenosine kinase (AK) catalyzes the phosphorylation of ribofuranosyl-containing nucleoside analogues at the 5'-hydroxyl using ATP or GTP as the phosphate donor.The physiological function of AK is associated with the regulation of extracellular adenosine ...
      PTZ00247
      Location:9 – 326
      Blast Score: 1100
      PTZ00247; adenosine kinase; Provisional

    3. NM_001202450.1 → NP_001189379.1  adenosine kinase isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, initiates translation at an alternate start codon, and lacks an alternate in-frame exon in the coding region, compared to variant 1. This results in a shorter protein (isoform d), compared to isoform a.
      Source sequence(s)
      AI188809, AK290633, AK301590, BJ989861, DA356691
      Consensus CDS
      CCDS55716.1
      UniProtKB/TrEMBL
      Q5JQ10
      Related
      ENSP00000443965, ENST00000539909
      Conserved Domains (2) summary
      cd01168
      Location:23 – 299
      Blast Score: 635
      adenosine_kinase; Adenosine kinase (AK) catalyzes the phosphorylation of ribofuranosyl-containing nucleoside analogues at the 5'-hydroxyl using ATP or GTP as the phosphate donor.The physiological function of AK is associated with the regulation of extracellular adenosine ...
      PTZ00247
      Location:26 – 304
      Blast Score: 847
      PTZ00247; adenosine kinase; Provisional

    4. NM_006721.3 → NP_006712.2  adenosine kinase isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), alternately referred to as ADK-long, differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) is longer than isoform a.
      Source sequence(s)
      AI188809, AK290633, BJ989861, DA356691, U90338
      Consensus CDS
      CCDS7343.1
      UniProtKB/Swiss-Prot
      P55263
      UniProtKB/TrEMBL
      Q5JQ10
      Related
      ENSP00000286621, OTTHUMP00000019864, ENST00000286621, OTTHUMT00000048763
      Conserved Domains (2) summary
      cd01168
      Location:23 – 356
      Blast Score: 913
      adenosine_kinase; Adenosine kinase (AK) catalyzes the phosphorylation of ribofuranosyl-containing nucleoside analogues at the 5'-hydroxyl using ATP or GTP as the phosphate donor.The physiological function of AK is associated with the regulation of extracellular adenosine ...
      PTZ00247
      Location:26 – 361
      Blast Score: 1188
      PTZ00247; adenosine kinase; Provisional

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000010.10 Reference GRCh37.p5 Primary Assembly

      Range
      75910943..76469061
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000142.1 Alternate HuRef

      Range
      69906246..70465523
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC012046.11 None
    genomic AC022026.7 None
    genomic AC022540.9 (2000..71735) None
    genomic AC091699.6 (2000..115847) None
    genomic AF283990.1 AAG13958.1
    genomic AL357037.13 CAH73202.1
      CAH73203.1
    genomic AL731576.9 CAI39671.1
      CAI39672.1
    genomic CH471083.1 EAW54555.1
      EAW54556.1
    mRNA AI188809.1 None
    mRNA AI608983.1 None
    mRNA AK290633.1 BAF83322.1
    mRNA AK301590.1 BAH13519.1
    mRNA AK302706.1 BAH13786.1
    mRNA BC003568.1 AAH03568.1
    mRNA BJ989861.1 None
    mRNA BM472149.1 None
    mRNA BT006788.1 AAP35434.1
    mRNA CB133126.1 None
    mRNA DA356691.1 None
    mRNA U33936.1 AAB01689.1
    mRNA U50196.1 AAA97893.1
    mRNA U90338.1 AAB50234.1
    mRNA U90339.1 AAB50235.1
    other-genetic DQ890624.2 ABM92241.1
    other-genetic EU176483.1 ABW03284.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P55263.2 GenPept UniProtKB/Swiss-Prot:P55263
    Q86U79 GenPept UniProtKB/TrEMBL:Q86U79
    Q9HB33 GenPept UniProtKB/TrEMBL:Q9HB33
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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