DGUOK - deoxyguanosine kinase Gene
Also Known as dGK; NCPH; NCPH1; PEOB4; MTDPS3
Species: Homo sapiens
About DGUOK
This gene has 8 transcripts (splice variants), 193 orthologues, 3 paralogues and is associated with 5 phenotypes. Ubiquitous expression in testis (RPKM 20.4), lymph node (RPKM 18.7) and 25 other tissues.
Summary
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]
DGUOK Products (7)
| mRNA | Protein | Name |
|---|---|---|
| NM_001318859.2 | NP_001305788.1 | deoxyguanosine kinase, mitochondrial isoform c precursor |
| NM_001318860.2 | NP_001305789.1 | deoxyguanosine kinase, mitochondrial isoform d |
| NM_001318861.2 | NP_001305790.1 | deoxyguanosine kinase, mitochondrial isoform d |
| NM_001318862.2 | NP_001305791.1 | deoxyguanosine kinase, mitochondrial isoform e |
| NM_001318863.2 | NP_001305792.1 | deoxyguanosine kinase, mitochondrial isoform e |
| NM_080916.3 | NP_550438.1 | deoxyguanosine kinase, mitochondrial isoform a precursor |
| NM_080918.3 | NP_550440.1 | deoxyguanosine kinase, mitochondrial isoform b precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables deoxyguanosine kinase activity |
IDA
IDA: Inferred from direct assay
|
8706825 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
33961781 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in dAMP salvage |
IDA
IDA: Inferred from direct assay
|
19221117 | GOA |
| involved in purine deoxyribonucleoside metabolic process |
IDA
IDA: Inferred from direct assay
|
8706825 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| is active in mitochondrion |
IDA
IDA: Inferred from direct assay
|
19221117 | GOA |
DGUOK Protein Structure
dNK: Deoxynucleoside kinase (110 - 266)
- 0
- 100
- 200
- 277 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
deoxyguanosine kinase, mitochondrial |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Mitochondrial Dna Depletion Syndrome 3 |
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| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
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| Portal Hypertension, Noncirrhotic, 1 |
|
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| Mitochondrial Dna Depletion Syndrome |
|
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| Cystathioninuria |
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| Portal Hypertension |
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| Mitochondrial Myopathy |
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| Mitochondrial Dna Depletion Syndrome 4a |
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| Mitochondrial Dna Depletion Syndrome 6 |
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| Mild Cognitive Impairment |
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| Mitochondrial Dna Depletion Syndrome 2 |
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| Charcot-Marie-Tooth Disease, Axonal, Type 2ee |
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| Mitochondrial Metabolism Disease |
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| Myopathy |
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| Kearns-Sayre Syndrome |
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| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
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| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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| Chronic Progressive External Ophthalmoplegia |
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| Mitochondrial Dna Depletion Syndrome 7 |
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| Pearson Marrow-Pancreas Syndrome |
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| Mitochondrial Dna Depletion Syndrome 4b |
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| Gracile Syndrome |
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| Mitochondrial Dna Depletion Syndrome 13 |
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| Motor Peripheral Neuropathy |
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| Encephalopathy, Ethylmalonic |
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| Citrullinemia, Type Ii, Adult-Onset |
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| Tyrosinemia |
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| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
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| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
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| 3-Methylglutaconic Aciduria, Type Iii |
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| Sengers Syndrome |
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| Ocular Motility Disease |
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| Lesch-Nyhan Syndrome |
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| Spinal Muscular Atrophy |
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| Mitochondrial Encephalomyopathy |
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| Leukemia, Chronic Lymphocytic |
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| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
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| Leber Hereditary Optic Neuropathy, Modifier Of |
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| Lactic Acidosis |
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| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
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| Leigh Syndrome |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | DGUOK | MGD | MGI:1351602 |
| Felis catus | DGUOK | VGNC | VGNC:61465 |
| Bos taurus | DGUOK | VGNC | VGNC:28032 |
| Rattus norvegicus | DGUOK | RGD | RGD:1304799 |
| Macaca mulatta | DGUOK | VGNC | VGNC:71790 |
| Canis familiaris | DGUOK | VGNC | VGNC:39925 |
| Others | DGUOK | NCBI |