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Protein

Deoxyguanosine kinase, mitochondrial

Gene

DGUOK

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Phosphorylates deoxyguanosine and deoxyadenosine in the mitochondrial matrix, with the highest efficiency for deoxyguanosine. In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on DGUOK and TK2. Phosphorylates certain nucleoside analogs. Widely used as target of antiviral and chemotherapeutic agents.4 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei70SubstrateBy similarity1
Binding sitei100Substrate1
Binding sitei111Substrate1
Binding sitei118Substrate1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei141Proton acceptorSequence analysis1
Binding sitei142Substrate1
Binding sitei147SubstrateBy similarity1
Binding sitei211Substrate1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi45 – 53ATP9
Nucleotide bindingi206 – 208ATP3

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

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

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionKinase, Transferase
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS03819-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
2.7.1.113 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-74217 Purine salvage

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
Q16854

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Deoxyguanosine kinase, mitochondrial (EC:2.7.1.113)
Short name:
dGK
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DGUOK
Synonyms:DGK
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000114956.19

Human Gene Nomenclature Database

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HGNCi
HGNC:2858 DGUOK

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601465 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q16854

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_019417142R → K in MTDPS3. 1 PublicationCorresponds to variant dbSNP:rs104893631EnsemblClinVar.1
Natural variantiVAR_019418227E → K in MTDPS3. 1 PublicationCorresponds to variant dbSNP:rs104893632EnsemblClinVar.1
Natural variantiVAR_023789250L → S in MTDPS3; significant reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs749464475EnsemblClinVar.1
Portal hypertension, non-cirrhotic (NCPH)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by portal hypertension associated with hepatosplenomegaly, in absence of cirrhosis, extrahepatic diseases, and splanchnic venous thrombosis. Portal hypertension is defined by a portal venous system pressure that is at least 5 mm Hg higher than the pressure in the inferior vena cava. High pressure in the portal venous system leads to shunting of blood through vessels that are poorly suited to carrying large blood volumes, resulting in collateral circulation and splenomegaly. NCPH patients show normal liver function.
See also OMIM:617068
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07698046N → S in NCPH; impairs adenosine triphosphate binding; reduction of activity. 2 PublicationsCorresponds to variant dbSNP:rs763615602EnsemblClinVar.1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 (PEOB4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB4 patients manifest clinically variable features including mitochondrial myopathy with or without progressive external ophthalmoplegia, recurrent rhabdomyolysis, and adult-onset lower motor neuron syndrome with mild cognitive impairment.
See also OMIM:617070
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07697944E → K in PEOB4; decreased protein levels. 1 PublicationCorresponds to variant dbSNP:rs762550967EnsemblClinVar.1
Natural variantiVAR_076981154N → K in PEOB4; decreased protein levels. 1 PublicationCorresponds to variant dbSNP:rs144181978EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Neuropathy, Primary mitochondrial disease, Progressive external ophthalmoplegia

Organism-specific databases

DisGeNET

More...
DisGeNETi
1716

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
DGUOK

MalaCards human disease database

More...
MalaCardsi
DGUOK
MIMi251880 phenotype
617068 phenotype
617070 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000114956

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
494348 Early-onset familial noncirrhotic portal hypertension
279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27319

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL5997

Drug and drug target database

More...
DrugBanki
DB01280 Nelarabine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DGUOK

Domain mapping of disease mutations (DMDM)

More...
DMDMi
23503050

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 39MitochondrionSequence analysisAdd BLAST39
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001684040 – 277Deoxyguanosine kinase, mitochondrialAdd BLAST238

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei275N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q16854

MaxQB - The MaxQuant DataBase

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MaxQBi
Q16854

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q16854

PeptideAtlas

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PeptideAtlasi
Q16854

PRoteomics IDEntifications database

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PRIDEi
Q16854

ProteomicsDB human proteome resource

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ProteomicsDBi
61106
61107 [Q16854-2]
61108 [Q16854-3]
61109 [Q16854-4]
61110 [Q16854-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q16854

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q16854

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000114956 Expressed in 232 organ(s), highest expression level in adenohypophysis

CleanEx database of gene expression profiles

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CleanExi
HS_DGUOK

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q16854 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q16854 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA034766
HPA057246

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108062, 72 interactors

Protein interaction database and analysis system

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IntActi
Q16854, 1 interactor

STRING: functional protein association networks

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STRINGi
9606.ENSP00000264093

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q16854

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1277
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q16854

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q16854

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q16854

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the DCK/DGK family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4235 Eukaryota
COG1428 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159627

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000290165

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG006216

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q16854

KEGG Orthology (KO)

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KOi
K00904

Identification of Orthologs from Complete Genome Data

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OMAi
LLDMMYQ

Database of Orthologous Groups

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OrthoDBi
EOG091G0G7H

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q16854

TreeFam database of animal gene trees

More...
TreeFami
TF324413

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002624 DCK/DGK
IPR031314 DNK_dom
IPR027417 P-loop_NTPase

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01712 dNK, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF000705 DNK, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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_07697944E → K in PEOB4; decreased protein levels. 1 PublicationCorresponds to variant dbSNP:rs762550967EnsemblClinVar.1
Natural variantiVAR_07698046N → S in NCPH; impairs adenosine triphosphate binding; reduction of activity. 2 PublicationsCorresponds to variant dbSNP:rs763615602EnsemblClinVar.1
Natural variantiVAR_019417142R → K in MTDPS3. 1 PublicationCorresponds to variant dbSNP:rs104893631EnsemblClinVar.1
Natural variantiVAR_076981154N → K in PEOB4; decreased protein levels. 1 PublicationCorresponds to variant dbSNP:rs144181978EnsemblClinVar.1
Natural variantiVAR_076982170Q → R Unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs74874677EnsemblClinVar.1
Natural variantiVAR_019418227E → K in MTDPS3. 1 PublicationCorresponds to variant dbSNP:rs104893632EnsemblClinVar.1
Natural variantiVAR_023789250L → S in MTDPS3; significant reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs749464475EnsemblClinVar.1
Natural variantiVAR_076983266L → R Reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs886037846EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>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

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EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS1931.1 [Q16854-1]
CCDS1932.1 [Q16854-2]

Protein sequence database of the Protein Information Resource

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PIRi
JC6142
S71315

NCBI Reference Sequences

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RefSeqi
NP_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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.469022

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000264093; ENSP00000264093; ENSG00000114956 [Q16854-1]
ENST00000348222; ENSP00000306964; ENSG00000114956 [Q16854-2]
ENST00000418996; ENSP00000408209; ENSG00000114956 [Q16854-6]
ENST00000629438; ENSP00000487122; ENSG00000114956 [Q16854-6]

Database of genes from NCBI RefSeq genomes

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GeneIDi
1716

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1716

UCSC genome browser

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UCSCi
uc002sjx.3 human [Q16854-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

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Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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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, 72 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
ProteomicsDBi61106
61107 [Q16854-2]
61108 [Q16854-3]
61109 [Q16854-4]
61110 [Q16854-5]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
1716
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

Comparative Toxicogenomics Database

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CTDi
1716
DisGeNETi1716
EuPathDBiHostDB:ENSG00000114956.19

GeneCards: human genes, protein and diseases

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GeneCardsi
DGUOK
GeneReviewsiDGUOK
HGNCiHGNC:2858 DGUOK
HPAiHPA034766
HPA057246
MalaCardsiDGUOK
MIMi251880 phenotype
601465 gene
617068 phenotype
617070 phenotype
neXtProtiNX_Q16854
OpenTargetsiENSG00000114956
Orphaneti329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
494348 Early-onset familial noncirrhotic portal hypertension
279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
PharmGKBiPA27319

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4235 Eukaryota
COG1428 LUCA
GeneTreeiENSGT00940000159627
HOGENOMiHOG000290165
HOVERGENiHBG006216
InParanoidiQ16854
KOiK00904
OMAiLLDMMYQ
OrthoDBiEOG091G0G7H
PhylomeDBiQ16854
TreeFamiTF324413

Enzyme and pathway databases

BioCyciMetaCyc:HS03819-MONOMER
BRENDAi2.7.1.113 2681
ReactomeiR-HSA-74217 Purine salvage
SABIO-RKiQ16854

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
DGUOK human
EvolutionaryTraceiQ16854

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
DGUOK

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
1716

Protein Ontology

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PROi
PR:Q16854

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000114956 Expressed in 232 organ(s), highest expression level in adenohypophysis
CleanExiHS_DGUOK
ExpressionAtlasiQ16854 baseline and differential
GenevisibleiQ16854 HS

Family and domain databases

InterProiView protein in InterPro
IPR002624 DCK/DGK
IPR031314 DNK_dom
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF01712 dNK, 1 hit
PIRSFiPIRSF000705 DNK, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDGUOK_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q16854
Secondary accession number(s): P78532
, Q16759, Q4ZG09, Q7L1W9, Q96BC1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: September 19, 2002
Last modified: December 5, 2018
This is version 178 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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