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    ADK adenosine kinase [ Homo sapiens (human) ]

    Gene ID: 132, updated on 8-Jul-2021

    Summary

    Official Symbol
    ADKprovided by HGNC
    Official Full Name
    adenosine kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:257
    See related
    Ensembl:ENSG00000156110 MIM:102750
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See ADK in Genome Data Viewer
    Location:
    10q22.2; 10q11-q24
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (74151185..74709300)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (75910979..76469048)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984244 Neighboring gene vinculin Neighboring gene adaptor related protein complex 3 subunit mu 1 Neighboring gene TIMM9 pseudogene 1 Neighboring gene VISTA enhancer hs595 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 VISTA enhancer hs1500 Neighboring gene family with sequence similarity 32 member C, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Adenosine kinase deficiency
    MedGen: C4706555 OMIM: 614300 GeneReviews: Not available
    Compare labs
    Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
    GeneReviews: Not available
    Genome-wide association study identifies four loci associated with eruption of permanent teeth.
    GeneReviews: Not available
    Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA binding HDA PubMed 
    enables adenosine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in AMP salvage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dATP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in purine ribonucleoside salvage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ribonucleoside monophosphate biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    adenosine kinase
    Names
    adenosine 5'-phosphotransferase
    testicular tissue protein Li 14
    NP_001114.2
    NP_001189378.1
    NP_001189379.1
    NP_001356052.1
    NP_001356053.1
    NP_006712.2
    XP_016871187.1
    XP_016871188.1
    XP_016871191.1
    XP_016871192.1
    XP_016871193.1
    XP_016871194.1
    XP_016871195.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_030484.2 RefSeqGene

      Range
      5037..563106
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001123.4NP_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, ENST00000372734.5
      Conserved Domains (1) summary
      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_001202449.2NP_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
      ENSP00000500201.1, ENST00000673027.1
      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_001202450.2NP_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
      Consensus CDS
      CCDS55716.1
      UniProtKB/Swiss-Prot
      P55263
      Related
      ENSP00000500292.1, ENST00000672429.1
      Conserved Domains (1) summary
      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_001369123.1NP_001356052.1  adenosine kinase isoform e

      Status: REVIEWED

      Source sequence(s)
      AC012046, AC022026, AC022540, AC091699, AL357037, AL731576
      Related
      ENSP00000500056.1, ENST00000673352.1
      Conserved Domains (1) summary
      cl00192
      Location:29254
      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, ...
    5. NM_001369124.1NP_001356053.1  adenosine kinase isoform f

      Status: REVIEWED

      Source sequence(s)
      AC012046, AC022026, AC091699, AL357037, AL731576
      Conserved Domains (1) summary
      cl00192
      Location:12287
      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, ...
    6. NM_006721.4NP_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)
      AK301590, HM005327, U90338
      Consensus CDS
      CCDS7343.1
      UniProtKB/Swiss-Prot
      P55263
      Related
      ENSP00000443965.2, ENST00000539909.6
      Conserved Domains (1) summary
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      74151185..74709300
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

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

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

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

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

      Related
      ENSP00000500097.1, ENST00000673310.1
    6. XM_017015699.1XP_016871188.1  adenosine kinase isoform X2

    7. XM_017015703.2XP_016871192.1  adenosine kinase isoform X6

      Related
      ENSP00000500390.1, ENST00000672394.1
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