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    DGUOK deoxyguanosine kinase [ Homo sapiens (human) ]

    Gene ID: 1716, updated on 8-Jul-2021

    Summary

    Official Symbol
    DGUOKprovided by HGNC
    Official Full Name
    deoxyguanosine kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:2858
    See related
    Ensembl:ENSG00000114956 MIM:601465
    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
    dGK; NCPH; PEOB4; MTDPS3
    Summary
    In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kinase. The protein encoded by this gene is responsible for phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix. In addition, this protein phosphorylates several purine deoxyribonucleoside analogs used in the treatment of lymphoproliferative disorders, and this phosphorylation is critical for the effectiveness of the analogs. Alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 20.4), lymph node (RPKM 18.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See DGUOK in Genome Data Viewer
    Location:
    2p13.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (73926827..73958961)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74154007..74186073)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene zinc finger DHHC-type palmitoyltransferase 6 pseudogene Neighboring gene actin gamma 2, smooth muscle Neighboring gene DGUOK antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 97 Neighboring gene uncharacterized LOC107985898 Neighboring gene tet methylcytosine dioxygenase 3

    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
    Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
    GeneReviews: Not available
    Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
    GeneReviews: Not available
    Mitochondrial DNA-depletion syndrome 3, hepatocerebral Compare labs
    Portal hypertension, noncirrhotic
    MedGen: C4310735 OMIM: 617068 GeneReviews: Not available
    Compare labs
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
    MedGen: C4310733 OMIM: 617070 GeneReviews: Not available
    Compare labs

    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 deoxyadenosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables deoxyguanosine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables deoxyguanosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables deoxynucleoside kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ATP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dAMP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dGTP metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in guanosine metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in mitochondrial ATP synthesis coupled electron transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in purine deoxyribonucleoside metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus HDA PubMed 

    General protein information

    Preferred Names
    deoxyguanosine kinase, mitochondrial
    Names
    deoxyadenosine kinase, mitochondrial
    NP_001305788.1
    NP_001305789.1
    NP_001305790.1
    NP_001305791.1
    NP_001305792.1
    NP_550438.1
    NP_550440.1
    XP_011530949.1
    XP_024308507.1

    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_008044.1 RefSeqGene

      Range
      5055..37121
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318859.2NP_001305788.1  deoxyguanosine kinase, mitochondrial isoform c precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice junction and lacks two alternate exons compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC073046, AU099795, BC024019, EL584040
      UniProtKB/Swiss-Prot
      Q16854
      Conserved Domains (1) summary
      cl17190
      Location:41181
      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 ...
    2. NM_001318860.2NP_001305789.1  deoxyguanosine kinase, mitochondrial isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4 and 5 both encode the same isoform (d).
      Source sequence(s)
      AC073046, AU099795, BG470729, U41668
      UniProtKB/Swiss-Prot
      Q16854
      UniProtKB/TrEMBL
      D6W5I0
      Conserved Domains (1) summary
      pfam01712
      Location:1178
      dNK; Deoxynucleoside kinase
    3. NM_001318861.2NP_001305790.1  deoxyguanosine kinase, mitochondrial isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate exon and lacks another alternate exon compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4 and 5 both encode the same isoform (d).
      Source sequence(s)
      AC073046, AU099795, BG575800, U41668
      UniProtKB/Swiss-Prot
      Q16854
      UniProtKB/TrEMBL
      D6W5I0
      Conserved Domains (1) summary
      pfam01712
      Location:1178
      dNK; Deoxynucleoside kinase
    4. NM_001318862.2NP_001305791.1  deoxyguanosine kinase, mitochondrial isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate in-frame splice junction, contains an alternate exon, and lacks another alternate exon compared to variant 1. The resulting isoform (e) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform a. Variants 6 and 7 both encode the same isoform (e).
      Source sequence(s)
      CN311954, U41668
      UniProtKB/Swiss-Prot
      Q16854
      Conserved Domains (1) summary
      cl17190
      Location:1172
      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 ...
    5. NM_001318863.2NP_001305792.1  deoxyguanosine kinase, mitochondrial isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) uses an alternate in-frame splice junction and lacks another alternate exon compared to variant 1. The resulting isoform (e) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform a. Variants 6 and 7 both encode the same isoform (e).
      Source sequence(s)
      AU099795, BF975904, U41668
      UniProtKB/Swiss-Prot
      Q16854
      Conserved Domains (1) summary
      cl17190
      Location:1172
      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 ...
    6. NM_080916.3NP_550438.1  deoxyguanosine kinase, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_550438.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      BC015757, BG708680, U41668
      Consensus CDS
      CCDS1931.1
      UniProtKB/Swiss-Prot
      Q16854
      UniProtKB/TrEMBL
      E5KSL5
      Related
      ENSP00000264093.4, ENST00000264093.9
      Conserved Domains (1) summary
      pfam01712
      Location:41275
      dNK; Deoxynucleoside kinase
    7. NM_080918.3NP_550440.1  deoxyguanosine kinase, mitochondrial isoform b precursor

      See identical proteins and their annotated locations for NP_550440.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b)has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      BC015757, BU580854, U41668
      Consensus CDS
      CCDS1932.1
      UniProtKB/Swiss-Prot
      Q16854
      UniProtKB/TrEMBL
      E5KSL6
      Related
      ENSP00000306964.3, ENST00000348222.3
      Conserved Domains (1) summary
      cl17190
      Location:41187
      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 ...

    RNA

    1. NR_134893.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC024019
      Related
      ENST00000418996.5
    2. NR_134894.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AU099795, BG715600, U41668
      Related
      ENST00000629438.2
    3. NR_134895.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AU099795, AV760728, U41668
    4. NR_134896.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AU099795, BM706344, U41668
    5. NR_134897.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC073046, AU099795, CN311963, U41668
      Related
      ENST00000462685.1
    6. NR_134898.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC073046, AU099795, CA414889

    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_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      73926827..73958961
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532647.2XP_011530949.1  deoxyguanosine kinase, mitochondrial isoform X1

      Conserved Domains (1) summary
      pfam01712
      Location:41269
      dNK; Deoxynucleoside kinase
    2. XM_024452739.1XP_024308507.1  deoxyguanosine kinase, mitochondrial isoform X2

      Conserved Domains (1) summary
      pfam01712
      Location:1178
      dNK; Deoxynucleoside kinase

    RNA

    1. XR_001738656.1 RNA Sequence

    2. XR_244926.3 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001929.2: Suppressed sequence

      Description
      NM_001929.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    2. NM_080915.1: Suppressed sequence

      Description
      NM_080915.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    3. NM_080917.1: Suppressed sequence

      Description
      NM_080917.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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