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Symbol DGUOK contributors: - updated : 11-04-2007
HGNC name deoxyguanosine kinase
HGNC id 2858
Corresponding disease
MDDS1 mitochondrial DNA depletion syndrome, hepatocerebral form
Location 2p13      Physical location : 74.153.952 - 74.186.086
Synonym name deoxyguanosine kinase, mitochondrial
Synonym symbol(s) DGK
EC.number 2.7.1.113
DNA
TYPE functioning gene
STRUCTURE 32.00 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
text five variants, four isoforms
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- splicing 1144 32 277 - Johansson
- splicing 880 - 189 - Johansson
same reading frame as variant 1
- splicing 1031 - 89 - Johansson
truncated
- splicing 767 - 89 neurons of the olfactory bulb, hippocampus , and cerebral and cerebellar cortex Johansson, Hozumi
  • truncated, nuclear
  • four ankyrin-like repeats and a nuclear localization signal (NLS)
    • - - 1117 - 63 - Johansson
    unique C terminus
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver    
    Lymphoid/Immunethymus   highly
    Nervousbrain    
    Reproductivefemale systemovary  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Lymphoid    
    Muscular    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal mitochondrial targeting signal
  • a deoxyguanosine kinase domain
    • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Dguok
    intraspecies homolog to DCK
    Homologene
    FAMILY DCK/DGK family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • phosphorylation of purine deoxyribonucleotides and of analogs used in the treatment of lymphoproliferative disorders
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MDDS1
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS