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DGUOK deoxyguanosine kinase [ Homo sapiens (human) ]

Gene ID: 1716, updated on 9-Dec-2018

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

Genomic context

See DGUOK in Genome Data Viewer
Location:
2p13.1
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (73926826..73958961)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74153953..74186088)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene zinc finger DHHC-type containing 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
NHGRI GWA Catalog
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
NHGRI GWA Catalog

Pathways from BioSystems

  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of nucleotides, organism-specific biosystem (from REACTOME)
    Metabolism of nucleotides, organism-specific biosystemNucleotides and their derivatives are used for short-term energy storage (ATP, GTP), for intra- and extra-cellular signaling (cAMP; adenosine), as enzyme cofactors (NAD, FAD), and for the synthesis o...
  • Purine metabolism, organism-specific biosystem (from KEGG)
    Purine metabolism, organism-specific biosystem
    Purine metabolism
  • Purine metabolism, organism-specific biosystem (from REACTOME)
    Purine metabolism, organism-specific biosystemThe events of human purine metabolism are conveniently, if somewhat arbitrarily, grouped into four pathways: de novo synthesis of inosine 5'-monophosphate (IMP), the biosynthesis of other purine ribo...
  • Purine metabolism, conserved biosystem (from KEGG)
    Purine metabolism, conserved biosystem
    Purine metabolism
  • Purine salvage, organism-specific biosystem (from REACTOME)
    Purine salvage, organism-specific biosystemNucleosides and free bases generated by DNA and RNA breakdown are converted back to nucleotide monophosphates, allowing them to re-enter the pathway of purine biosynthesis. Nucleosides and free bases...
  • purine deoxyribonucleosides salvage, organism-specific biosystem (from BIOCYC)
    purine deoxyribonucleosides salvage, organism-specific biosystemGeneral BackgroundDeoxyribonucleotides are synthesised de novo at the diphosphate level through reduction of the 2-hydroxyl group of the corresponding ribonucleotides (see :PWY-7226 and :PWY-7227). T...
  • purine deoxyribonucleosides salvage, conserved biosystem (from BIOCYC)
    purine deoxyribonucleosides salvage, conserved biosystemGeneral Background Deoxyribonucleotides are synthesised de novo at the diphosphate level through reduction of the 2?-hydroxyl group of the corresponding ribonucleotides (see |FRAME:PWY-7220| and |FR...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
deoxyguanosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
deoxyguanosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
deoxynucleoside kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoside kinase activity EXP
Inferred from Experiment
more info
PubMed 
Process Evidence Code Pubs
dGTP metabolic process IEA
Inferred from Electronic Annotation
more info
 
deoxyribonucleoside monophosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
guanosine metabolic process TAS
Traceable Author Statement
more info
PubMed 
negative regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
 
nucleotide biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
purine deoxyribonucleoside metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
purine-containing compound salvage TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 
nucleus HDA PubMed 

General protein information

Preferred Names
deoxyguanosine 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)

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
    5001..37136
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318859.1NP_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, BC015757, 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_001318860.1NP_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, BC015757, BG470729, U41668
    UniProtKB/Swiss-Prot
    Q16854
    UniProtKB/TrEMBL
    D6W5I0
    Conserved Domains (1) summary
    pfam01712
    Location:1178
    dNK; Deoxynucleoside kinase
  3. NM_001318861.1NP_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, BC015757, BG575800, U41668
    UniProtKB/Swiss-Prot
    Q16854
    UniProtKB/TrEMBL
    D6W5I0
    Conserved Domains (1) summary
    pfam01712
    Location:1178
    dNK; Deoxynucleoside kinase
  4. NM_001318862.1NP_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)
    AC073046, AU099795, BC015757, 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_001318863.1NP_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)
    AC073046, AU099795, BC015757, 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, ENST00000264093.8
    Conserved Domains (1) summary
    pfam01712
    Location:41275
    dNK; Deoxynucleoside kinase
  7. NM_080918.2NP_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)
    AC073046, 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_134893.1 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)
    AC073046, AU099795, BC015757, BC024019
    Related
    ENST00000418996.5
  2. NR_134894.1 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)
    AC073046, AU099795, BC015757, BG715600, U41668
    Related
    ENST00000629438.2
  3. NR_134895.1 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)
    AC073046, AU099795, AV760728, BC015757, U41668
  4. NR_134896.1 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)
    AC073046, AU099795, BC015757, BM706344, U41668
  5. NR_134897.1 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, BC015757, CN311963, U41668
  6. NR_134898.1 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, BC015757, CA414889

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    73926826..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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