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DGUOK deoxyguanosine kinase [ Homo sapiens (human) ]

Gene ID: 1716, updated on 6-Sep-2022

Summary

Official Symbol
DGUOKprovided by HGNC
Official Full Name
deoxyguanosine kinaseprovided by HGNC
Primary source
HGNC:HGNC:2858
See related
Ensembl:ENSG00000114956 MIM:601465; AllianceGenome:HGNC:2858
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; NCPH1; 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
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Genomic context

See DGUOK in Genome Data Viewer
Location:
2p13.1
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (73926880..73958946)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (73935347..73967403)
105.20220307 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 tet methylcytosine dioxygenase 3 Neighboring gene formin binding protein 1 pseudogene 1

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

EBI GWAS Catalog

Description
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
EBI GWAS 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.
EBI GWAS Catalog

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 salvage IDA
Inferred from Direct Assay
more info
PubMed 
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 
is_active_in mitochondrion IDA
Inferred from Direct Assay
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_047299541.1
XP_047299543.1

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, Q96BC1
    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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    73926880..73958946
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532647.3XP_011530949.1  deoxyguanosine kinase, mitochondrial isoform X1

    Conserved Domains (1) summary
    pfam01712
    Location:41269
    dNK; Deoxynucleoside kinase
  2. XM_047443587.1XP_047299543.1  deoxyguanosine kinase, mitochondrial isoform X3

  3. XM_047443585.1XP_047299541.1  deoxyguanosine kinase, mitochondrial isoform X2

    Related
    ENST00000489796.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    73935347..73967403
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.