DGUOK

Protein identityUniProt · HPA

UniProt accession

Q16854

Gene

DGUOK

Ensembl

ENSG00000114956

Chromosome

2

Canonical length

277 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

277 residues, UniProt reviewed canonical sequence.

>Q16854|DGUOK
     1  MAAGRLFLSR LRAPFSSMAK SPLEGVSSSR GLHAGRGPRR LSIEGNIAVG KSTFVKLLTK
    61  TYPEWHVATE PVATWQNIQA AGTQKACTAQ SLGNLLDMMY REPARWSYTF QTFSFLSRLK
   121  VQLEPFPEKL LQARKPVQIF ERSVYSDRYI FAKNLFENGS LSDIEWHIYQ DWHSFLLWEF
   181  ASRITLHGFI YLQASPQVCL KRLYQRAREE EKGIELAYLE QLHGQHEAWL IHKTTKLHFE
   241  ALMNIPVLVL DVNDDFSEEV TKQEDLMREV NTFVKNL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DGUOK can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.33

Highest tissue expression

44 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DGUOK.

Disease | AllUniProt

Conditions DGUOK is implicated in, by any mechanism.

• Mitochondrial DNA depletion syndrome 3 (MTDPS3) MIM:251880
• Portal hypertension, non-cirrhotic, 1 (NCPH1) MIM:617068
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 (PEOB4) MIM:617070

Disease | GeneticClinVar

67 pathogenic / likely-pathogenic of 406 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
• Portal hypertension, noncirrhotic, 1
• DGUOK-related disorder
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.19

gnomAD pLI

0

gnomAD missense Z

-0.47

DepMap mean gene effect

-0.06

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• dAMP salvage
• mitochondrial ATP synthesis coupled electron transport
• negative regulation of neuron projection development
• dGTP metabolic process
• guanosine metabolic process
• purine deoxyribonucleoside metabolic process

Molecular functions

• ATP binding
• deoxyadenosine kinase activity
• deoxyguanosine kinase activity

Cellular components

• cytoplasm
• cytosol
• mitochondrial matrix
• mitochondrion
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Deoxynucleoside kinase
• P-loop containing nucleoside triphosphate hydrolase
• Deoxynucleoside kinase domain
• Deoxyribonucleoside Kinase
• Deoxynucleoside kinase

KeywordsUniProt

• Acetylation
• ATP-binding
• Kinase
• Mitochondrion
• Neuropathy
• Nucleotide-binding
• Primary mitochondrial disease
• Progressive external ophthalmoplegia
• Transferase
• Transit peptide