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Protein

Deoxyguanosine kinase, mitochondrial

Gene

DGUOK

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Required for the phosphorylation of several deoxyribonucleosides and certain nucleoside analogs widely employed as antiviral and chemotherapeutic agents.1 Publication

Catalytic activityi

ATP + deoxyguanosine = ADP + dGMP.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei70SubstrateBy similarity1
Binding sitei100Substrate1
Binding sitei111Substrate1
Binding sitei118Substrate1
Active sitei141Proton acceptorSequence analysis1
Binding sitei142Substrate1
Binding sitei147SubstrateBy similarity1
Binding sitei211Substrate1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi45 – 53ATP9
Nucleotide bindingi206 – 208ATP3

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • deoxyguanosine kinase activity Source: UniProtKB
  • nucleoside kinase activity Source: Reactome

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Kinase, Transferase

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS03819-MONOMER.
ZFISH:HS03819-MONOMER.
BRENDAi2.7.1.113. 2681.
ReactomeiR-HSA-74217. Purine salvage.
SABIO-RKQ16854.

Names & Taxonomyi

Protein namesi
Recommended name:
Deoxyguanosine kinase, mitochondrial (EC:2.7.1.113)
Short name:
dGK
Gene namesi
Name:DGUOK
Synonyms:DGK
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:2858. DGUOK.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Ensembl
  • mitochondrial matrix Source: Reactome
  • mitochondrion Source: ProtInc
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Mitochondrial DNA depletion syndrome 3 (MTDPS3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder due to mitochondrial dysfunction characterized by onset in infancy of progressive liver failure, hypoglycemia, increased lactate in body fluids, and neurologic abnormalities including hypotonia, encephalopathy, peripheral neuropathy. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes and mtDNA depletion.
See also OMIM:251880
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019417142R → K in MTDPS3. 1 PublicationCorresponds to variant rs104893631dbSNPEnsembl.1
Natural variantiVAR_019418227E → K in MTDPS3. 1 PublicationCorresponds to variant rs104893632dbSNPEnsembl.1
Natural variantiVAR_023789250L → S in MTDPS3; significant reduction of activity. 1 PublicationCorresponds to variant rs749464475dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Neuropathy

Organism-specific databases

DisGeNETi1716.
MalaCardsiDGUOK.
MIMi251880. phenotype.
OpenTargetsiENSG00000114956.
Orphaneti329314. Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency.
279934. Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency.
PharmGKBiPA27319.

Chemistry databases

ChEMBLiCHEMBL5997.
DrugBankiDB01280. Nelarabine.

Polymorphism and mutation databases

BioMutaiDGUOK.
DMDMi23503050.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 39MitochondrionSequence analysisAdd BLAST39
ChainiPRO_000001684040 – 277Deoxyguanosine kinase, mitochondrialAdd BLAST238

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei275N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ16854.
MaxQBiQ16854.
PaxDbiQ16854.
PeptideAtlasiQ16854.
PRIDEiQ16854.

PTM databases

iPTMnetiQ16854.
PhosphoSitePlusiQ16854.

Expressioni

Tissue specificityi

Ubiquitous. Highest expression in muscle, brain, liver and lymphoid tissues.1 Publication

Gene expression databases

BgeeiENSG00000114956.
CleanExiHS_DGUOK.
ExpressionAtlasiQ16854. baseline and differential.
GenevisibleiQ16854. HS.

Organism-specific databases

HPAiHPA034766.
HPA057246.

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi108062. 71 interactors.
IntActiQ16854. 1 interactor.
STRINGi9606.ENSP00000264093.

Chemistry databases

BindingDBiQ16854.

Structurei

Secondary structure

1277
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi39 – 45Combined sources7
Helixi51 – 61Combined sources11
Beta strandi65 – 68Combined sources4
Helixi72 – 74Combined sources3
Helixi95 – 101Combined sources7
Helixi103 – 123Combined sources21
Helixi128 – 131Combined sources4
Beta strandi137 – 142Combined sources6
Helixi144 – 149Combined sources6
Helixi151 – 157Combined sources7
Helixi163 – 179Combined sources17
Helixi181 – 184Combined sources4
Beta strandi188 – 193Combined sources6
Helixi196 – 205Combined sources10
Turni209 – 213Combined sources5
Helixi216 – 230Combined sources15
Helixi242 – 244Combined sources3
Beta strandi247 – 251Combined sources5
Turni256 – 258Combined sources3
Helixi260 – 275Combined sources16

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2OCPX-ray2.80A/B/C/D/E/F/G/H37-277[»]
ProteinModelPortaliQ16854.
SMRiQ16854.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ16854.

Family & Domainsi

Sequence similaritiesi

Belongs to the DCK/DGK family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG4235. Eukaryota.
COG1428. LUCA.
GeneTreeiENSGT00510000046588.
HOGENOMiHOG000290165.
HOVERGENiHBG006216.
InParanoidiQ16854.
KOiK00904.
OMAiHGQHEAW.
OrthoDBiEOG091G0G7H.
PhylomeDBiQ16854.
TreeFamiTF324413.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR002624. DCK/DGK.
IPR031314. DNK_dom.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF01712. dNK. 1 hit.
[Graphical view]
PIRSFiPIRSF000705. DNK. 1 hit.
SUPFAMiSSF52540. SSF52540. 1 hit.

Sequences (6)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q16854-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAGRLFLSR LRAPFSSMAK SPLEGVSSSR GLHAGRGPRR LSIEGNIAVG
60 70 80 90 100
KSTFVKLLTK TYPEWHVATE PVATWQNIQA AGTQKACTAQ SLGNLLDMMY
110 120 130 140 150
REPARWSYTF QTFSFLSRLK VQLEPFPEKL LQARKPVQIF ERSVYSDRYI
160 170 180 190 200
FAKNLFENGS LSDIEWHIYQ DWHSFLLWEF ASRITLHGFI YLQASPQVCL
210 220 230 240 250
KRLYQRAREE EKGIELAYLE QLHGQHEAWL IHKTTKLHFE ALMNIPVLVL
260 270
DVNDDFSEEV TKQEDLMREV NTFVKNL
Length:277
Mass (Da):32,056
Last modified:September 19, 2002 - v2
Checksum:i53E4514BFC2CB5E5
GO
Isoform 2 (identifier: Q16854-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     149-236: Missing.

Show »
Length:189
Mass (Da):21,439
Checksum:i0E0CBD1BBBE34002
GO
Isoform 3 (identifier: Q16854-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     48-85: Missing.

Show »
Length:239
Mass (Da):27,873
Checksum:i786237AC41F6BF66
GO
Isoform 4 (identifier: Q16854-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     48-85: Missing.
     149-236: Missing.

Show »
Length:151
Mass (Da):17,256
Checksum:iAA10F42F818838E5
GO
Isoform 5 (identifier: Q16854-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     47-47: I → IGNILKQIRGRAPIQET
     48-85: Missing.

Show »
Length:255
Mass (Da):29,649
Checksum:i24ABF9B977115020
GO
Isoform 6 (identifier: Q16854-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     48-89: AVGKSTFVKL...AAGTQKACTA → GLHCPKSWKL...PPESTAGALP
     90-277: Missing.

Note: No experimental confirmation available.
Show »
Length:89
Mass (Da):9,442
Checksum:i32692C4B9DA9F035
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti83T → N in AAC50624 (PubMed:8692979).Curated1
Sequence conflicti159G → D in CAA66054 (PubMed:8706825).Curated1
Sequence conflicti212K → E in CAA66054 (PubMed:8706825).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019417142R → K in MTDPS3. 1 PublicationCorresponds to variant rs104893631dbSNPEnsembl.1
Natural variantiVAR_019418227E → K in MTDPS3. 1 PublicationCorresponds to variant rs104893632dbSNPEnsembl.1
Natural variantiVAR_023789250L → S in MTDPS3; significant reduction of activity. 1 PublicationCorresponds to variant rs749464475dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00302647I → IGNILKQIRGRAPIQET in isoform 5. Curated1
Alternative sequenceiVSP_05602648 – 89AVGKS…KACTA → GLHCPKSWKLAGYDVPGAST MVLHIPDIFLFEPPESTAGA LP in isoform 6. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_00302448 – 85Missing in isoform 3, isoform 4 and isoform 5. CuratedAdd BLAST38
Alternative sequenceiVSP_05602790 – 277Missing in isoform 6. 1 PublicationAdd BLAST188
Alternative sequenceiVSP_003025149 – 236Missing in isoform 2 and isoform 4. CuratedAdd BLAST88

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U41668 mRNA. Translation: AAC50624.1.
AC073046 Genomic DNA. Translation: AAX88910.1.
CH471053 Genomic DNA. Translation: EAW99704.1.
CH471053 Genomic DNA. Translation: EAW99707.1.
CH471053 Genomic DNA. Translation: EAW99709.1.
BC015757 mRNA. Translation: AAH15757.1.
BC024019 mRNA. Translation: AAH24019.1.
X97386 mRNA. Translation: CAA66054.1.
U81499 Genomic DNA. Translation: AAB39858.1.
CCDSiCCDS1931.1. [Q16854-1]
CCDS1932.1. [Q16854-2]
PIRiJC6142.
S71315.
RefSeqiNP_001305788.1. NM_001318859.1.
NP_001305789.1. NM_001318860.1.
NP_001305790.1. NM_001318861.1.
NP_001305791.1. NM_001318862.1.
NP_001305792.1. NM_001318863.1.
NP_550438.1. NM_080916.2. [Q16854-1]
NP_550440.1. NM_080918.2. [Q16854-2]
UniGeneiHs.469022.

Genome annotation databases

EnsembliENST00000264093; ENSP00000264093; ENSG00000114956. [Q16854-1]
ENST00000348222; ENSP00000306964; ENSG00000114956. [Q16854-2]
ENST00000418996; ENSP00000408209; ENSG00000114956. [Q16854-6]
ENST00000629438; ENSP00000487122; ENSG00000114956. [Q16854-6]
GeneIDi1716.
KEGGihsa:1716.
UCSCiuc002sjx.3. human. [Q16854-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U41668 mRNA. Translation: AAC50624.1.
AC073046 Genomic DNA. Translation: AAX88910.1.
CH471053 Genomic DNA. Translation: EAW99704.1.
CH471053 Genomic DNA. Translation: EAW99707.1.
CH471053 Genomic DNA. Translation: EAW99709.1.
BC015757 mRNA. Translation: AAH15757.1.
BC024019 mRNA. Translation: AAH24019.1.
X97386 mRNA. Translation: CAA66054.1.
U81499 Genomic DNA. Translation: AAB39858.1.
CCDSiCCDS1931.1. [Q16854-1]
CCDS1932.1. [Q16854-2]
PIRiJC6142.
S71315.
RefSeqiNP_001305788.1. NM_001318859.1.
NP_001305789.1. NM_001318860.1.
NP_001305790.1. NM_001318861.1.
NP_001305791.1. NM_001318862.1.
NP_001305792.1. NM_001318863.1.
NP_550438.1. NM_080916.2. [Q16854-1]
NP_550440.1. NM_080918.2. [Q16854-2]
UniGeneiHs.469022.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2OCPX-ray2.80A/B/C/D/E/F/G/H37-277[»]
ProteinModelPortaliQ16854.
SMRiQ16854.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108062. 71 interactors.
IntActiQ16854. 1 interactor.
STRINGi9606.ENSP00000264093.

Chemistry databases

BindingDBiQ16854.
ChEMBLiCHEMBL5997.
DrugBankiDB01280. Nelarabine.

PTM databases

iPTMnetiQ16854.
PhosphoSitePlusiQ16854.

Polymorphism and mutation databases

BioMutaiDGUOK.
DMDMi23503050.

Proteomic databases

EPDiQ16854.
MaxQBiQ16854.
PaxDbiQ16854.
PeptideAtlasiQ16854.
PRIDEiQ16854.

Protocols and materials databases

DNASUi1716.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264093; ENSP00000264093; ENSG00000114956. [Q16854-1]
ENST00000348222; ENSP00000306964; ENSG00000114956. [Q16854-2]
ENST00000418996; ENSP00000408209; ENSG00000114956. [Q16854-6]
ENST00000629438; ENSP00000487122; ENSG00000114956. [Q16854-6]
GeneIDi1716.
KEGGihsa:1716.
UCSCiuc002sjx.3. human. [Q16854-1]

Organism-specific databases

CTDi1716.
DisGeNETi1716.
GeneCardsiDGUOK.
GeneReviewsiDGUOK.
HGNCiHGNC:2858. DGUOK.
HPAiHPA034766.
HPA057246.
MalaCardsiDGUOK.
MIMi251880. phenotype.
601465. gene.
neXtProtiNX_Q16854.
OpenTargetsiENSG00000114956.
Orphaneti329314. Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency.
279934. Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency.
PharmGKBiPA27319.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4235. Eukaryota.
COG1428. LUCA.
GeneTreeiENSGT00510000046588.
HOGENOMiHOG000290165.
HOVERGENiHBG006216.
InParanoidiQ16854.
KOiK00904.
OMAiHGQHEAW.
OrthoDBiEOG091G0G7H.
PhylomeDBiQ16854.
TreeFamiTF324413.

Enzyme and pathway databases

BioCyciMetaCyc:HS03819-MONOMER.
ZFISH:HS03819-MONOMER.
BRENDAi2.7.1.113. 2681.
ReactomeiR-HSA-74217. Purine salvage.
SABIO-RKQ16854.

Miscellaneous databases

ChiTaRSiDGUOK. human.
EvolutionaryTraceiQ16854.
GeneWikiiDGUOK.
GenomeRNAii1716.
PROiQ16854.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000114956.
CleanExiHS_DGUOK.
ExpressionAtlasiQ16854. baseline and differential.
GenevisibleiQ16854. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR002624. DCK/DGK.
IPR031314. DNK_dom.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF01712. dNK. 1 hit.
[Graphical view]
PIRSFiPIRSF000705. DNK. 1 hit.
SUPFAMiSSF52540. SSF52540. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiDGUOK_HUMAN
AccessioniPrimary (citable) accession number: Q16854
Secondary accession number(s): P78532
, Q16759, Q4ZG09, Q7L1W9, Q96BC1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: September 19, 2002
Last modified: November 2, 2016
This is version 165 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.