DGUOK deoxyguanosine kinase [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 2p13.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (73926880..73958946)
RS_2023_10	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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia.
Title: Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia.
DGUOK deficiency and mutation is associated with mitochondrial DNA depletion syndromes.
Title: Deoxyguanosine kinase deficiency: a report of four patients.
rare homozygous p.N46S mutation associated with idiopathic noncirrhotic portal hypertension
Title: Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension.
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.
sequencing results showed that the patient was a compound heterozygote for c.679G>A and c.817delT in the DGUOK gene
Title: [Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome].
thymidine kinase 2 but not deoxyguanosine kinase is up-regulated during the stationary growth phase of cultured cells
Title: Mitochondrial thymidine kinase 2 but not deoxyguanosine kinase is up-regulated during the stationary growth phase of cultured cells.
study expands the spectrum of disorders caused by mutations in DGUOK.
Title: Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
Deoxyguanosine kinase gene mutations combined with impaired glucose homeostasis and iron overload features are associated with severe progressive liver failure.
Title: Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
c.592-4_c.592-3delTT mutation causes exon skipping and is and responsible for the DGUOK deficiency
Title: A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) MedGen: C5191055 OMIM: 251880 GeneReviews: Deoxyguanosine Kinase Deficiency, Mitochondrial DNA Maintenance Defects Overview	Compare labs
Portal hypertension, noncirrhotic, 1 MedGen: CN305369 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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DGUOK (e-PCR)
- UniSTS:278282

WI-12391 (e-PCR)
- UniSTS:19664

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
enables deoxyguanosine kinase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
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 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
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
is_active_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: deoxyguanosine kinase, mitochondrial

Names: deoxyadenosine kinase, mitochondrial

NP_001305788.1

EC 2.7.1.113

EC 2.7.1.76

NP_001305789.1

EC 2.7.1.113

EC 2.7.1.76

NP_001305790.1

EC 2.7.1.113

EC 2.7.1.76

NP_001305791.1

EC 2.7.1.113

EC 2.7.1.76

NP_001305792.1

EC 2.7.1.113

EC 2.7.1.76

NP_550438.1

EC 2.7.1.113

EC 2.7.1.76

NP_550440.1

EC 2.7.1.113

EC 2.7.1.76

XP_011530949.1

EC 2.7.1.113

EC 2.7.1.76

XP_047299541.1

EC 2.7.1.113

EC 2.7.1.76

XP_047299543.1

EC 2.7.1.113

EC 2.7.1.76

XP_054196858.1

EC 2.7.1.113

EC 2.7.1.76

XP_054196859.1

EC 2.7.1.113

EC 2.7.1.76

XP_054196860.1

EC 2.7.1.113

EC 2.7.1.76

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.

Genomic

NG_008044.1 RefSeqGene

Range

5055..37121

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001318859.2 → NP_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:41 → 181

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 ...
NM_001318860.2 → NP_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

Conserved Domains (1) summary

pfam01712
Location:1 → 178

dNK; Deoxynucleoside kinase
NM_001318861.2 → NP_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

Conserved Domains (1) summary

pfam01712
Location:1 → 178

dNK; Deoxynucleoside kinase
NM_001318862.2 → NP_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:1 → 172

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 ...
NM_001318863.2 → NP_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:1 → 172

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 ...
NM_080916.3 → NP_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

P78532, Q16759, Q16854, Q4ZG09, Q7L1W9, Q96BC1

UniProtKB/TrEMBL

E5KSL5

Related

ENSP00000264093.4, ENST00000264093.9

Conserved Domains (1) summary

pfam01712
Location:41 → 275

dNK; Deoxynucleoside kinase
NM_080918.3 → NP_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/TrEMBL

E5KSL6

Related

ENSP00000306964.3, ENST00000348222.3

Conserved Domains (1) summary

cl17190
Location:41 → 187

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

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
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
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
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
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
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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

73926880..73958946

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

pfam01712
Location:41 → 269

dNK; Deoxynucleoside kinase
XM_047443587.1 → XP_047299543.1 deoxyguanosine kinase, mitochondrial isoform X3
XM_047443585.1 → XP_047299541.1 deoxyguanosine kinase, mitochondrial isoform X2

Related

ENST00000489796.5

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

73935347..73967403

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054340883.1 → XP_054196858.1 deoxyguanosine kinase, mitochondrial isoform X1
XM_054340885.1 → XP_054196860.1 deoxyguanosine kinase, mitochondrial isoform X3
XM_054340884.1 → XP_054196859.1 deoxyguanosine kinase, mitochondrial isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001929.2: Suppressed sequence

Description

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

Description

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

Description

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