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    ADK adenosine kinase [ Homo sapiens (human) ]

    Gene ID: 132, updated on 5-Nov-2017
    Official Symbol
    ADKprovided by HGNC
    Official Full Name
    adenosine kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:257
    See related
    Ensembl:ENSG00000156110 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]
    Expression
    Ubiquitous expression in liver (RPKM 10.9), thyroid (RPKM 8.6) and 25 other tissues See more
    Orthologs
    Location:
    10q22.2; 10q11-q24
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (74151185..74709303)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (75910943..76469061)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984244 Neighboring gene vinculin Neighboring gene adaptor related protein complex 3 mu 1 subunit Neighboring gene TIMM9 pseudogene 1 Neighboring gene ribosomal protein SA pseudogene 6 Neighboring gene RAB5C, member RAS oncogene family pseudogene 1 Neighboring gene uncharacterized LOC102723439 Neighboring gene mitochondrial ribosomal protein L35 pseudogene 3 Neighboring gene NADH:ubiquinone oxidoreductase subunit A8 pseudogene 1 Neighboring gene RNA polymerase III subunit D pseudogene 1 Neighboring gene family with sequence similarity 32 member C, pseudogene Neighboring gene uncharacterized LOC101929165 Neighboring gene lysine acetyltransferase 6B

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Hypermethioninemia due to adenosine kinase deficiency
    MedGen: C3280381 OMIM: 614300 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
    NHGRI GWA Catalog
    Genome-wide association study identifies four loci associated with eruption of permanent teeth.
    NHGRI GWA Catalog
    Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
    NHGRI GWA Catalog
    • 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 II, organism-specific biosystem (from BIOCYC)
      adenine and adenosine salvage II, organism-specific biosystemAdenosine nucleotides can be synthesized de novo. In that route : AMP is synthesized via : IMP and : ADENYLOSUCC, which is converted to AMP by the action of : ASL-MONOMER, see : PWY-6126. Note that t...
    • 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: A...
    • superpathway of purine nucleotide salvage, organism-specific biosystem (from BIOCYC)
      superpathway of purine nucleotide salvage, organism-specific biosystemBackground Purine nucleotides participate in many aspects of cellular metabolism including the structure of DNA and RNA, serving as enzyme cofactors, functioning in cellular signaling, acting as pho...
    • superpathway of purine nucleotide salvage, conserved biosystem (from BIOCYC)
      superpathway of purine nucleotide salvage, conserved biosystemBackground Purine nucleotides participate in many aspects of cellular metabolism including the structure of DNA and RNA, serving as enzyme cofactors, functioning in cellular signaling, acting as pho...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    adenosine kinase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    adenosine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    NOT carbohydrate kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    AMP salvage IEA
    Inferred from Electronic Annotation
    more info
     
    adenosine salvage IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    NOT carbohydrate phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    dATP biosynthetic process 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 
    Component Evidence Code Pubs
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    adenosine kinase
    Names
    adenosine 5'-phosphotransferase
    testicular tissue protein Li 14
    NP_001114.2
    NP_001189378.1
    NP_001189379.1
    NP_006712.2
    XP_016871187.1
    XP_016871188.1
    XP_016871189.1
    XP_016871190.1
    XP_016871191.1
    XP_016871192.1
    XP_016871193.1
    XP_016871194.1
    XP_016871195.1

    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_001123.3NP_001114.2  adenosine kinase isoform a

      See identical proteins and their annotated locations for NP_001114.2

      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
      A0A140VJE0
      Related
      ENSP00000361819.3, OTTHUMP00000019865, ENST00000372734.3, OTTHUMT00000048765
      Conserved Domains (2) summary
      PTZ00247
      Location:9344
      PTZ00247; adenosine kinase; Provisional
      cl00192
      Location:12344
      ribokinase_pfkB_like; ribokinase/pfkB superfamily: Kinases that accept a wide variety of substrates, including carbohydrates and aromatic small molecules, all are phosphorylated at a hydroxyl group. The superfamily includes ribokinase, fructokinase, ketohexokinase, ...
    2. NM_001202449.1NP_001189378.1  adenosine kinase isoform c

      See identical proteins and their annotated locations for NP_001189378.1

      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/Swiss-Prot
      P55263
      Related
      ENSP00000438321.1, ENST00000541550.5
      Conserved Domains (2) summary
      PTZ00247
      Location:9326
      PTZ00247; adenosine kinase; Provisional
      cl00192
      Location:12326
      ribokinase_pfkB_like; ribokinase/pfkB superfamily: Kinases that accept a wide variety of substrates, including carbohydrates and aromatic small molecules, all are phosphorylated at a hydroxyl group. The superfamily includes ribokinase, fructokinase, ketohexokinase, ...
    3. NM_001202450.1NP_001189379.1  adenosine kinase isoform d

      See identical proteins and their annotated locations for NP_001189379.1

      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/Swiss-Prot
      P55263
      Related
      ENSP00000443965.1, ENST00000539909.5
      Conserved Domains (2) summary
      PTZ00247
      Location:26304
      PTZ00247; adenosine kinase; Provisional
      cl00192
      Location:29304
      ribokinase_pfkB_like; ribokinase/pfkB superfamily: Kinases that accept a wide variety of substrates, including carbohydrates and aromatic small molecules, all are phosphorylated at a hydroxyl group. The superfamily includes ribokinase, fructokinase, ketohexokinase, ...
    4. NM_006721.3NP_006712.2  adenosine kinase isoform b

      See identical proteins and their annotated locations for NP_006712.2

      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
      Related
      ENSP00000286621.2, OTTHUMP00000019864, ENST00000286621.6, OTTHUMT00000048763
      Conserved Domains (2) summary
      PTZ00247
      Location:26361
      PTZ00247; adenosine kinase; Provisional
      cl00192
      Location:29361
      ribokinase_pfkB_like; ribokinase/pfkB superfamily: Kinases that accept a wide variety of substrates, including carbohydrates and aromatic small molecules, all are phosphorylated at a hydroxyl group. The superfamily includes ribokinase, fructokinase, ketohexokinase, ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      74151185..74709303
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015700.1XP_016871189.1  adenosine kinase isoform X3

    2. XM_017015705.1XP_016871194.1  adenosine kinase isoform X8

    3. XM_017015698.1XP_016871187.1  adenosine kinase isoform X1

    4. XM_017015704.1XP_016871193.1  adenosine kinase isoform X7

    5. XM_017015701.1XP_016871190.1  adenosine kinase isoform X4

    6. XM_017015702.1XP_016871191.1  adenosine kinase isoform X5

    7. XM_017015706.1XP_016871195.1  adenosine kinase isoform X9

    8. XM_017015699.1XP_016871188.1  adenosine kinase isoform X2

    9. XM_017015703.1XP_016871192.1  adenosine kinase isoform X6

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      76192927..76750970
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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