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    Dguok deoxyguanosine kinase [ Rattus norvegicus (Norway rat) ]

    Gene ID: 297389, updated on 18-Sep-2024

    Summary

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    Official Symbol
    Dguokprovided by RGD
    Official Full Name
    deoxyguanosine kinaseprovided by RGD
    Primary source
    RGD:1304799
    See related
    EnsemblRapid:ENSRNOG00000011617 AllianceGenome:RGD:1304799
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable deoxyadenosine kinase activity and deoxyguanosine kinase activity. Involved in ATP biosynthetic process; mitochondrial ATP synthesis coupled electron transport; and negative regulation of neuron projection development. Predicted to be active in cytosol and mitochondrion. Used to study mitochondrial DNA depletion syndrome 3. Human ortholog(s) of this gene implicated in autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4; mitochondrial DNA depletion syndrome 3; mitochondrial metabolism disease; and portal hypertension. Orthologous to human DGUOK (deoxyguanosine kinase). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in Heart (RPKM 144.6), Adrenal (RPKM 117.5) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Dguok in Genome Data Viewer
    Location:
    4q34
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 4 NC_086022.1 (117544784..117572414, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 4 NC_051339.1 (115987101..116014733, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 4 NC_005103.4 (115180433..115208061, complement)

    Chromosome 4 - NC_086022.1Genomic Context describing neighboring genes Neighboring gene bolA family member 3 Neighboring gene tet methylcytosine dioxygenase 3 Neighboring gene uncharacterized LOC102548361 Neighboring gene uncharacterized LOC134486594 Neighboring gene uncharacterized LOC120102320 Neighboring gene actin gamma 2, smooth muscle Neighboring gene Stam binding protein Neighboring gene uncharacterized LOC120102321

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats. Vanden Avond MA, et al. J Inherit Metab Dis, 2021 Mar. PMID 33368311
    2. A Screen Using iPSC-Derived Hepatocytes Reveals NAD(+) as a Potential Treatment for mtDNA Depletion Syndrome. Jing R, et al. Cell Rep, 2018 Nov 6. PMID 30404003, Free PMC Article
    3. Severe mtDNA depletion and dependency on catabolic lipid metabolism in DGUOK knockout mice. Zhou X, et al. Hum Mol Genet, 2019 Sep 1. PMID 31127938
    4. Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome. Bennett B, et al. Free Radic Biol Med, 2016 Mar. PMID 26773591, Free PMC Article
    5. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Mandel H, et al. Nat Genet, 2001 Nov. PMID 11687800

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats.
      Title: The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats.
    2. The goals of this work are to characterize the DGUOK rat in terms of mitochondrial dysfunction and pathological outcome, and to evaluate EPR as a new and additional technique in an integrated characterization of mitochondrial disease .
      Title: Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC188845

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables deoxyguanosine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables deoxyguanosine kinase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables deoxynucleoside kinase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in dAMP salvage ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within dGTP metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within deoxyribonucleoside monophosphate biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrial ATP synthesis coupled electron transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within nucleotide biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within protein phosphorylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in purine deoxyribonucleoside metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    deoxyguanosine kinase, mitochondrial
    NP_001100072.1
    XP_006236797.1
    XP_006236798.1
    XP_006236799.1
    XP_008761278.1
    XP_008761279.1
    XP_038963265.1
    XP_038963266.1
    XP_038963268.1
    XP_038963269.1
    XP_063141870.1
    XP_063141871.1
    XP_063141872.1
    XP_063141873.1
    XP_063141874.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001106602.1 → NP_001100072.1  deoxyguanosine kinase, mitochondrial

      See identical proteins and their annotated locations for NP_001100072.1

      Status: PROVISIONAL

      Source sequence(s)
      CH473957
      UniProtKB/TrEMBL
      A6IAM4, A6IAM6, D3ZDE4
      Conserved Domains (1) summary
      pfam01712
      Location:41 → 269
      dNK; Deoxynucleoside kinase

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086022.1 Reference GRCr8

      Range
      117544784..117572414 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039107337.2 → XP_038963265.1  deoxyguanosine kinase, mitochondrial isoform X2

      Related
      ENSRNOP00000062535.2, ENSRNOT00000066678.4
      Conserved Domains (1) summary
      pfam01712
      Location:41 → 325
      dNK; Deoxynucleoside kinase

    2. XM_006236737.5 → XP_006236799.1  deoxyguanosine kinase, mitochondrial isoform X6

      See identical proteins and their annotated locations for XP_006236799.1

      UniProtKB/TrEMBL
      A6IAM5, A6IAM6
      Conserved Domains (1) summary
      pfam01712
      Location:41 → 275
      dNK; Deoxynucleoside kinase

    3. XM_008763057.4 → XP_008761279.1  deoxyguanosine kinase, mitochondrial isoform X4

      UniProtKB/TrEMBL
      A0A8I5ZV32
      Related
      ENSRNOP00000105366.1, ENSRNOT00000135424.1
      Conserved Domains (1) summary
      pfam01712
      Location:41 → 270
      dNK; Deoxynucleoside kinase

    4. XM_063285800.1 → XP_063141870.1  deoxyguanosine kinase, mitochondrial isoform X7

      UniProtKB/TrEMBL
      A6IAM6

    5. XM_006236735.5 → XP_006236797.1  deoxyguanosine kinase, mitochondrial isoform X3

      UniProtKB/TrEMBL
      A0A0G2K478
      Related
      ENSRNOP00000072937.2, ENSRNOT00000084388.3
      Conserved Domains (1) summary
      pfam01712
      Location:41 → 331
      dNK; Deoxynucleoside kinase

    6. XM_008763056.4 → XP_008761278.1  deoxyguanosine kinase, mitochondrial isoform X1

      Conserved Domains (1) summary
      pfam01712
      Location:41 → 326
      dNK; Deoxynucleoside kinase

    7. XM_039107340.2 → XP_038963268.1  deoxyguanosine kinase, mitochondrial isoform X14

      UniProtKB/TrEMBL
      B5DEP0
      Conserved Domains (1) summary
      cl17190
      Location:1 → 178
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    8. XM_063285802.1 → XP_063141872.1  deoxyguanosine kinase, mitochondrial isoform X10

    9. XM_063285804.1 → XP_063141874.1  deoxyguanosine kinase, mitochondrial isoform X13

    10. XM_063285801.1 → XP_063141871.1  deoxyguanosine kinase, mitochondrial isoform X9

    11. XM_063285803.1 → XP_063141873.1  deoxyguanosine kinase, mitochondrial isoform X11

    12. XM_006236736.5 → XP_006236798.1  deoxyguanosine kinase, mitochondrial isoform X5

      UniProtKB/TrEMBL
      A6IAM6
      Conserved Domains (1) summary
      cl17190
      Location:41 → 293
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    13. XM_039107341.2 → XP_038963269.1  deoxyguanosine kinase, mitochondrial isoform X12

      UniProtKB/TrEMBL
      A6IAM9
      Conserved Domains (1) summary
      cl17190
      Location:41 → 148
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    14. XM_039107338.2 → XP_038963266.1  deoxyguanosine kinase, mitochondrial isoform X8

      Conserved Domains (1) summary
      cl17190
      Location:41 → 147
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
    Nucleotide Protein Strain
    Heading Accession and Version

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