• Gene id: 1716

Gene Summary

• Gene Symbol: DGUOK   Gene   UCSC   Ensembl
• Aliases: MTDPS3, NCPH, PEOB4, dGK
• Gene name: deoxyguanosine kinase
• Alternate names: deoxyguanosine kinase, mitochondrial, deoxyadenosine kinase, mitochondrial,
• Gene location: 2p13.1 (73926826: 73958960)     Exons: 5     NC_000002.12
• Gene summary(Entrez): 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 fo
• OMIM: 601465

Protein Summary

• Protein general information: Q16854  
  • Name: Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113) (Deoxyadenosine kinase, mitochondrial) (EC 2.7.1.76)
  • Length: 277  
  • Mass: 32056
  • Tissue specificity: Ubiquitous. Highest expression in muscle, brain, liver and lymphoid tissues. {ECO
• Sequence:

  MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPRRLSIEGNIAVGKSTFVKLLTKTYPEWHVATEPVATW
  QNIQAAGTQKACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLKVQLEPFPEKLLQARKPVQIFERSVYSDRYI
  FAKNLFENGSLSDIEWHIYQDWHSFLLWEFASRITLHGFIYLQASPQVCLKRLYQRAREEEKGIELAYLEQLHGQ
  HEAWLIHKTTKLHFEALMNIPVLVLDVNDDFSEEVTKQEDLMREVNTFVKNL

• Structural information:
  • Interpro: IPR002624  IPR031314  IPR027417  
  • CDD: cd01673
  • PDB: 2OCP
  • PDBsum: 2OCP
  • STRING: ENSP00000264093
• Other Databases: GeneCards:  DGUOK  Malacards:  DGUOK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0004138	deoxyguanosine kinase activity	IBA	molecular function
GO:0019136	deoxynucleoside kinase activity	IBA	molecular function
GO:0046122	purine deoxyribonucleoside metabolic process	IDA	biological process
GO:0004138	deoxyguanosine kinase activity	IDA	molecular function
GO:0019136	deoxynucleoside kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006139	nucleobase-containing compound metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0004138	deoxyguanosine kinase activity	TAS	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0008617	guanosine metabolic process	TAS	biological process
GO:0004138	deoxyguanosine kinase activity	IEA	molecular function
GO:0004136	deoxyadenosine kinase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0043101	purine-containing compound salvage	TAS	biological process
GO:0046070	dGTP metabolic process	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0004138	deoxyguanosine kinase activity	IEA	molecular function
GO:0010977	negative regulation of neuron projection development	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0009157	deoxyribonucleoside monophosphate biosynthetic process	IEA	biological process
GO:0009157	deoxyribonucleoside monophosphate biosynthetic process	IEA	biological process
GO:0009157	deoxyribonucleoside monophosphate biosynthetic process	IEA	biological process
GO:0009157	deoxyribonucleoside monophosphate biosynthetic process	IEA	biological process
GO:0009157	deoxyribonucleoside monophosphate biosynthetic process	IEA	biological process
GO:0009157	deoxyribonucleoside monophosphate biosynthetic process	IEA	biological process
GO:0009157	deoxyribonucleoside monophosphate biosynthetic process	IEA	biological process
GO:0006170	dAMP biosynthetic process	IEA	biological process
GO:0005634	nucleus	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism

Diseases

Associated diseases	References
Mitochondrial DNA depletion syndrome	KEGG:H00469
Autosomal recessive progressive external ophthalmoplegia	KEGG:H01395
Mitochondrial DNA depletion syndrome	KEGG:H00469
Autosomal recessive progressive external ophthalmoplegia	KEGG:H01395
mitochondrial metabolism disease	PMID:11687800
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)