Product Details

Purity

Greater than 90% as determined by SDS-PAGE.

Target Names

DGUOK

Uniprot No.

Q16854

Research Area

Signal Transduction

Alternative Names

DGUOK; DGK; Deoxyguanosine kinase; mitochondrial; dGK; EC 2.7.1.113

Species

Homo sapiens (Human)

Source

E.coli

Expression Region

40-277

Target Protein Sequence

RLSIEGNIAVGKSTFVKLLTKTYPEWHVATEPVATWQNIQAAGTQKACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLKVQLEPFPEKLLQARKPVQIFERSVYSDRYIFAKNLFENGSLSDIEWHIYQDWHSFLLWEFASRITLHGFIYLQASPQVCLKRLYQRAREEEKGIELAYLEQLHGQHEAWLIHKTTKLHFEALMNIPVLVLDVNDDFSEEVTKQEDLMREVNTFVKNL
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.

Mol. Weight

44.0kDa

Protein Length

Full Length of Mature Protein

Tag Info

N-terminal 6xHis-SUMO-tagged

Form

Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.

Buffer

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.

Reconstitution

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Troubleshooting and FAQs

Protein FAQs

Storage Condition

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.

Shelf Life

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.

Lead Time

3-7 business days

Notes

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Datasheet & COA

Please contact us to get it.

Target Background

Function

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.

Gene References into Functions

DGUOK deficiency and mutation is associated with mitochondrial DNA depletion syndromes. PMID: 28493820
rare homozygous p.N46S mutation associated with idiopathic noncirrhotic portal hypertension PMID: 26874653
The goals of this work are to characterize the DGUOK rat in terms of mitochondrial dysfunction and pathological outcome, and to evaluate EPR as a new and additional technique in an integrated characterization of mitochondrial disease . PMID: 26773591
sequencing results showed that the patient was a compound heterozygote for c.679G>A and c.817delT in the DGUOK gene PMID: 27324545
thymidine kinase 2 but not deoxyguanosine kinase is up-regulated during the stationary growth phase of cultured cells PMID: 24940680
study expands the spectrum of disorders caused by mutations in DGUOK. PMID: 23043144
Deoxyguanosine kinase gene mutations combined with impaired glucose homeostasis and iron overload features are associated with severe progressive liver failure. PMID: 21107780
c.592-4_c.592-3delTT mutation causes exon skipping and is and responsible for the DGUOK deficiency PMID: 19900589
Neurological symptoms appeared later and were mild, in agreement with the limited brain pathology. Molecular analysis of the dGK gene should be performed in infants with cirrhosis even in the absence of CNS involvement. PMID: 15150663
Low level of mitochondrial deoxyguanosine kinase is the dominant factor in acquired resistance to 9-beta-D-arabinofuranosylguanine cytotoxicity PMID: 12054684
A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA. Homozygous nonsense mutation in exon 3 of DGUOK (313C-->T). PMID: 12210798
This study identified 2 novel homozygous mutations, G352A and C269T, that lead to truncated proteins in the hepatocerebral form of mitochondrial DNA depletion syndrome. PMID: 15883261
DGUOK activity may play a crucial role in the phenotype reversal PMID: 17073823
DGUOK is required for mitochondrial DNA replication in resting cells and that small changes in expression of this enzyme may cause mitochondrial DNA depletion. PMID: 17490647
15 different mutations in the DGUOK gene from 9 kindreds, were identified. PMID: 18205204
study reports the first founder DGUOK mutation (c.444-62C>A) in two North-African families with hepatocerebral syndrome and severe combined respiratory chain deficiency PMID: 19394258
a viral infection can trigger fulminant liver failure in the context of a genetic predisposition associated with mutations in DGUOK PMID: 19502998

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Involvement in disease

Mitochondrial DNA depletion syndrome 3 (MTDPS3); Portal hypertension, non-cirrhotic (NCPH); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 (PEOB4)

Subcellular Location

Mitochondrion.

Protein Families

DCK/DGK family

Tissue Specificity

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

Database Links

HGNC: 2858

OMIM: 251880

KEGG: hsa:1716

STRING: 9606.ENSP00000264093

UniGene: Hs.469022

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Code	CSB-EP621974HU
MSDS	MSDS
Size	$224
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Image	(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
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Recombinant Human Deoxyguanosine kinase, mitochondrial (DGUOK)

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