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FLASH GENE
Symbol ADK contributors: mct - updated : 16-10-2009
HGNC name adenosine kinase
HGNC id 257
Corresponding disease
ADKD adenosine kinase deficiency with hypermethioninemia
Location 10q22.2      Physical location : 75.910.964 - 76.469.059
Synonym name adenosine 5'-phosphotransferase
Synonym symbol(s) AK
EC.number 2.7.1.20
DNA
TYPE functioning gene
SPECIAL FEATURE head to head, opposite orientation
text head to head arranged with HPS
STRUCTURE 558.10 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
MYOZ1 10q22.1 myozenin 1 SYNPO2L 10q22.3 synaptopodin 2-like LOC118704 10q22.3 similar to ARF GTPase-activating protein LOC389978 10 similar to Ribosome biogenesis protein BMS1 homolog GLUDP3 10q22.1 glutamate dehydrogenase pseudogene 3 SEC24C 10q22.3 SEC24 related gene family, member C (S. cerevisiae) FUT11 10q22.3 fucosyltransferase 11 (alpha (1,3) fucosyltransferase) LOC118487 10q22.3 similar to RIKEN cDNA 1110001O19 LOC196752 10q22.3 similar to CG32542-PA KIAA0913 10q22.3 KIAA0913 protein NDST2 10q22 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 CAMK2G 10q22.3 calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma PLAU 10q23.3-q24.3 plasminogen activator, urokinase VCL 10q22.1-q23 vinculin AP3M1 10q22.3 adaptor-related protein complex 3, mu 1 subunit ADK 10q22.3 adenosine kinase MRPL35P3 10q22.2 adenosine kinase
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 polyA site 2082 38.7 345 - Spychala
  • isoform a or short isoform
  • cytoplasmic localization (Cui 2009)
  • 11 splicing 2018 - 362 - Spychala
  • differing at the 5'end
  • isoform b or long-isoform
  • found in the nucleus, where it is likely required for sustaining methylation reaction (Cui 2009)
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Reproductivefemale systemplacenta  highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer monomer
    HOMOLOGY
    interspecies homolog to murine Adk (91.4pc)
    homolog to rattus Adk (90.3pc)
    Homologene
    FAMILY
  • carbohydrate kinase pfkB family
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • regulator of concentration of both extracellular adenosine and intracellular adenine nucleotides
  • a critical role in modulating vascular adenosine responses (Morote-Garcia 2008)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism purine/pyrimidine
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • binding 3 magnesium ions Mg2+ per subunit
  • protein
    cell & other
    REGULATION
    repressed by HIF1 upon hypoxia, thus attenuating vascular leak (Morote-Garcia 2008)
    ASSOCIATED DISORDERS
    corresponding disease(s) ADKD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    expression significantly higher in colorectal cancers (Giglioni 2008)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    In homozygous Adk -/- mice, embryonic stem cells developed normally during embryogenesis. However, within 4 days after birth they displayed microvesicular hepatic steatosis and died within 14 days with fatty liver. Thus, a deficiency of adenosine metabolism is identified as a powerful contributor to the development of neonatal hepatic steatosis, providing a model for the rapid development of postnatally lethal fatty liver (Boison 2002)