DGUOK

Protein-coding gene in the species Homo sapiens

DGUOK

Available structures

PDB

Ortholog search: PDBe RCSB

List of PDB id codes
2OCP

Identifiers

Aliases

DGUOK, deoxyguanosine kinase, MTDPS3, dGK, NCPH, PEOB4, NCPH1

External IDs

OMIM: 601465; MGI: 1351602; HomoloGene: 8456; GeneCards: DGUOK; OMA:DGUOK - orthologs

Gene location (Human)

Chr.	Chromosome 2 (human)^[1]

Band	2p13.1	Start	73,926,826 bp^[1]
Band	2p13.1	End	73,958,961 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 6 (mouse)^[2]

Band	6 C3\|6 35.94 cM	Start	83,457,199 bp^[2]
Band	6 C3\|6 35.94 cM	End	83,483,951 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

anterior pituitary

olfactory zone of nasal mucosa

ascending aorta

Descending thoracic aorta

ganglionic eminence

mucosa of transverse colon

popliteal artery

tibial arteries

left ovary

left coronary artery

Top expressed in

neural layer of retina

lactiferous gland

right kidney

endocardial cushion

right ventricle

secondary oocyte

saccule

ventricular zone

corneal stroma

adrenal gland

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	transferase activity nucleotide binding nucleoside kinase activity deoxyguanosine kinase activity kinase activity ATP binding deoxynucleoside kinase activity
Cellular component	cytoplasm cytosol mitochondrial matrix mitochondrion nucleus
Biological process	negative regulation of neuron projection development purine deoxyribonucleoside metabolic process dGTP metabolic process phosphorylation purine-containing compound salvage guanosine metabolic process protein phosphorylation nucleobase-containing compound metabolic process nucleotide biosynthetic process deoxyribonucleoside monophosphate biosynthetic process
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


1716


27369

Ensembl


ENSG00000114956


ENSMUSG00000014554

UniProt


Q16854


Q9QX60

RefSeq (mRNA)

NM_001929 NM_080915 NM_080916 NM_080917 NM_080918
NM_001318859 NM_001318860 NM_001318861 NM_001318862 NM_001318863


NM_001162521 NM_013764

RefSeq (protein)

NP_001305788 NP_001305789 NP_001305790 NP_001305791 NP_001305792
NP_550438 NP_550440


NP_001155993 NP_038792

Location (UCSC)

Chr 2: 73.93 – 73.96 Mb

Chr 6: 83.46 – 83.48 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Deoxyguanosine kinase, mitochondrial is an enzyme that in humans is encoded by the DGUOK gene.^[5]

Function

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.^[5]

Clinical

Mutations in this gene have been linked to inherited mitochondrial DNA depletion syndromes, neonatal liver failure, nystagmus and hypotonia.

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000114956 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000014554 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: DGUOK deoxyguanosine kinase".

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