Dguok deoxyguanosine kinase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dguokprovided by MGI
Official Full Name: deoxyguanosine kinaseprovided by MGI
Primary source: MGI:MGI:1351602
See related: Ensembl:ENSMUSG00000014554 AllianceGenome:MGI:1351602
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: dGK; dGK1; dGK2; dGK3
Summary: Enables deoxyadenosine kinase activity and deoxyguanosine kinase activity. Acts upstream of or within dGTP metabolic process and protein phosphorylation. Located in cytosol and mitochondrion. Is expressed in central nervous system and retina. 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: Ubiquitous expression in bladder adult (RPKM 14.8), limb E14.5 (RPKM 12.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 C3; 6 35.94 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (83457199..83483887, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (83480214..83506969, complement)

Chromosome 6 - NC_000072.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deoxyguanosine kinase mutation F180S is associated with a lean phenotype in mice.
Title: Deoxyguanosine kinase mutation F180S is associated with a lean phenotype in mice.
We conclude that Dguok has a major role for the synthesis of deoxyribonucleotides for mtDNA replication particularly in the liver, similar to the human disorder. Our data also show a catabolic lipid metabolism in liver tissue of Dguok-/-.
Title: Severe mtDNA depletion and dependency on catabolic lipid metabolism in DGUOK knockout mice.
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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (2)
Targeted (1) 1 citation

General gene information

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Gene Ontology Provided by MGI

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	IDA Inferred from Direct Assay more info	PubMed
enables deoxyguanosine kinase activity	ISO Inferred from Sequence Orthology more info
enables deoxynucleoside kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables deoxynucleoside kinase activity	TAS Traceable Author Statement more info	PubMed
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within dGTP metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in dIMP salvage	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within deoxyribonucleoside monophosphate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial ATP synthesis coupled electron transport	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within nucleobase-containing compound metabolic process	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within nucleotide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: deoxyguanosine kinase, mitochondrial

Names: deoxyadenosine kinase, mitochondrial

NP_001155993.1

EC 2.7.1.113

EC 2.7.1.76

NP_038792.2

EC 2.7.1.113

EC 2.7.1.76

XP_011239672.1

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.

mRNA and Protein(s)

NM_001162521.2 → NP_001155993.1 deoxyguanosine kinase, mitochondrial isoform 2

See identical proteins and their annotated locations for NP_001155993.1

Status: VALIDATED

Description

Transcript Variant: This variant (2), known as dGK-3, lacks an exon in the coding region, which results in a frameshift and an early stop codon compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.

Source sequence(s)

AC090648

Consensus CDS

CCDS51821.1

UniProtKB/TrEMBL

Q504N4, Q91XI5

Related

ENSMUSP00000109520.2, ENSMUST00000113888.3

Conserved Domains (1) summary

pfam01712
Location:41 → 236

dNK; Deoxynucleoside kinase
NM_013764.3 → NP_038792.2 deoxyguanosine kinase, mitochondrial isoform 1

See identical proteins and their annotated locations for NP_038792.2

Status: VALIDATED

Description

Transcript Variant: This variant (1), known as dGK-1, represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC090648

Consensus CDS

CCDS20279.1

UniProtKB/Swiss-Prot

Q8CBU2, Q9QX60, Q9R0Y2, Q9WUT9

UniProtKB/TrEMBL

Q91XI5

Related

ENSMUSP00000014698.4, ENSMUST00000014698.10

Conserved Domains (1) summary

pfam01712
Location:41 → 275

dNK; Deoxynucleoside kinase

RNA

NR_149734.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) has multiple differences in the 3' end, 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)

AC090648

Related

ENSMUST00000138941.3
NR_177095.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC090648
NR_177096.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC090648
NR_177097.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC090648
NR_177098.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC090648
NR_177099.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC090648

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000072.7 Reference GRCm39 C57BL/6J

Range

83457199..83483887 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011241370.3 → XP_011239672.1 deoxyguanosine kinase, mitochondrial isoform X1

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 ...