Details for: DGUOK

Gene ID: 1716

Symbol: DGUOK

Ensembl ID: ENSG00000114956

Description: deoxyguanosine kinase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 334.3079
    Cell Significance Index: -52.0000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 186.6006
    Cell Significance Index: -47.3300
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 154.3886
    Cell Significance Index: -63.6000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 135.5156
    Cell Significance Index: -63.9800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 132.7484
    Cell Significance Index: -53.9300
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 118.3743
    Cell Significance Index: -60.8900
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 95.2875
    Cell Significance Index: -63.9400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 56.9263
    Cell Significance Index: -54.3500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 47.6092
    Cell Significance Index: -58.7000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 17.0054
    Cell Significance Index: -45.5600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 15.6536
    Cell Significance Index: -61.7700
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 12.8278
    Cell Significance Index: -39.4000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 8.5854
    Cell Significance Index: -18.7900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 2.4241
    Cell Significance Index: 145.5300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 2.1589
    Cell Significance Index: 45.1900
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 2.1405
    Cell Significance Index: 17.9800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.9236
    Cell Significance Index: 50.5800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.6732
    Cell Significance Index: 301.6300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.5288
    Cell Significance Index: 44.9000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.5133
    Cell Significance Index: 178.4600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.4941
    Cell Significance Index: 205.1800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.4849
    Cell Significance Index: 810.9200
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 1.4442
    Cell Significance Index: 15.7000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.3112
    Cell Significance Index: 35.6900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.2017
    Cell Significance Index: 147.7600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 1.1736
    Cell Significance Index: 55.1600
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 1.0979
    Cell Significance Index: 10.1100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.9906
    Cell Significance Index: 26.4500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.9215
    Cell Significance Index: 47.8700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.9080
    Cell Significance Index: 180.2000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.8749
    Cell Significance Index: 386.8000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.7936
    Cell Significance Index: 37.0000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.7893
    Cell Significance Index: 41.4400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.7866
    Cell Significance Index: 157.8000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7573
    Cell Significance Index: 123.1700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.7446
    Cell Significance Index: 25.8800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.7167
    Cell Significance Index: 50.6900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.6475
    Cell Significance Index: 41.7800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.6240
    Cell Significance Index: 43.1600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.6139
    Cell Significance Index: 45.7500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.5051
    Cell Significance Index: 64.7500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.4856
    Cell Significance Index: 62.7400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3942
    Cell Significance Index: 8.5400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3912
    Cell Significance Index: 140.3200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2932
    Cell Significance Index: 55.7900
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.2337
    Cell Significance Index: 3.5500
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.1558
    Cell Significance Index: 2.0000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1359
    Cell Significance Index: 93.9700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0550
    Cell Significance Index: 5.4400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0526
    Cell Significance Index: 0.8800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0359
    Cell Significance Index: 67.5200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0273
    Cell Significance Index: 24.6900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0135
    Cell Significance Index: 10.2400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0015
    Cell Significance Index: 2.3100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0014
    Cell Significance Index: 0.0400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0024
    Cell Significance Index: -0.1100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0040
    Cell Significance Index: -7.3500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0280
    Cell Significance Index: -17.8100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0364
    Cell Significance Index: -26.7000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0370
    Cell Significance Index: -50.3700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0425
    Cell Significance Index: -4.3400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0512
    Cell Significance Index: -37.9500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0534
    Cell Significance Index: -3.2800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0674
    Cell Significance Index: -30.5900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0923
    Cell Significance Index: -5.8200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0927
    Cell Significance Index: -52.2800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.1153
    Cell Significance Index: -72.0100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1177
    Cell Significance Index: -3.3700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1317
    Cell Significance Index: -22.4800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1704
    Cell Significance Index: -49.0300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2547
    Cell Significance Index: -37.0300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2907
    Cell Significance Index: -22.3100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2944
    Cell Significance Index: -34.3100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3218
    Cell Significance Index: -8.2200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.3273
    Cell Significance Index: -68.9400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3904
    Cell Significance Index: -21.9100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.4065
    Cell Significance Index: -46.5800
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.4648
    Cell Significance Index: -8.5900
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.4757
    Cell Significance Index: -10.9900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.5046
    Cell Significance Index: -22.3200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.5358
    Cell Significance Index: -7.3100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.5441
    Cell Significance Index: -28.3400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.5519
    Cell Significance Index: -37.1100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.5635
    Cell Significance Index: -58.6700
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.5724
    Cell Significance Index: -4.5700
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.5924
    Cell Significance Index: -6.7300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.6038
    Cell Significance Index: -19.3400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.6166
    Cell Significance Index: -23.3500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.6518
    Cell Significance Index: -51.6200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.6780
    Cell Significance Index: -14.4400
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.8789
    Cell Significance Index: -13.1700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.8951
    Cell Significance Index: -15.3400
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.9335
    Cell Significance Index: -5.6400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.9572
    Cell Significance Index: -25.6100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.0276
    Cell Significance Index: -63.0000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -1.0925
    Cell Significance Index: -29.2800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -1.1504
    Cell Significance Index: -29.5700
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -1.1590
    Cell Significance Index: -19.9800
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: -1.1885
    Cell Significance Index: -7.4400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.2049
    Cell Significance Index: -35.4900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** DGUOK is a mitochondrial enzyme that belongs to the family of nucleoside kinases. It is a dimeric protein composed of two subunits, each with a catalytic domain. The enzyme is highly specific for deoxyguanosine, converting it into dGTP through a phosphorylation reaction. DGUOK is also involved in the regulation of neuron projection development and the negative regulation of T-cell activation. **Pathways and Functions:** DGUOK is implicated in several cellular pathways, including: 1. **Nucleotide salvage:** DGUOK plays a critical role in the salvage of deoxyguanosine, which is then converted into dGTP. This pathway is essential for maintaining the pool of dGTP, which is required for various cellular processes, including DNA replication, repair, and transcription. 2. **Mitochondrial function:** DGUOK is localized to the mitochondrial matrix and is involved in the regulation of mitochondrial ATP synthesis coupled electron transport. This pathway is essential for maintaining the energy homeostasis of the cell. 3. **Guanosine metabolism:** DGUOK is also involved in the regulation of guanosine metabolism, which is essential for the production of GTP and other guanosine nucleotides. **Clinical Significance:** Abnormalities in DGUOK expression have been linked to various diseases, including: 1. **Neurological disorders:** Mutations in the DGUOK gene have been associated with neurological disorders, such as progressive supranuclear palsy and amyotrophic lateral sclerosis. 2. **Metabolic disorders:** DGUOK is also involved in the regulation of energy metabolism, and abnormalities in its expression have been linked to metabolic disorders, such as mitochondrial myopathies. 3. **Cancer:** DGUOK has been implicated in the regulation of T-cell activation, and abnormalities in its expression have been linked to various types of cancer. In conclusion, DGUOK is a critical enzyme in the salvage of deoxyguanosine and the regulation of mitochondrial function. Its abnormalities have been linked to various diseases, highlighting the importance of this enzyme in maintaining cellular homeostasis. Further research is needed to fully understand the role of DGUOK in human disease and to develop therapeutic strategies to target this enzyme in the treatment of various diseases.

Genular Protein ID: 346888577

Symbol: DGUOK_HUMAN

Name: Deoxyguanosine kinase, mitochondrial

UniProtKB Accession Codes:

Q16854 P78532 Q16759 Q4ZG09 Q7L1W9 Q96BC1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 13 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EC 2 EMBL 9 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 14 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 7 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 2 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 6 Pumba 1 RNAct 1 Reactome 1 RefSeq 7 Rhea 2 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8692979

Title: Cloning and expression of human deoxyguanosine kinase cDNA.

PubMed ID: 8692979

DOI: 10.1073/pnas.93.14.7258

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8706825

Title: Cloning and expression of human mitochondrial deoxyguanosine kinase cDNA.

PubMed ID: 8706825

DOI: 10.1016/0014-5793(96)00623-0

PubMed ID: 11687801

Title: Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.

PubMed ID: 11687801

DOI: 10.1038/ng751

PubMed ID: 17073823

Title: Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion.

PubMed ID: 17073823

DOI: 10.1042/bj20060705

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 11427893

Title: Structural basis for substrate specificities of cellular deoxyribonucleoside kinases.

PubMed ID: 11427893

DOI: 10.1038/89661

PubMed ID: 12205643

Title: Mitochondrial DNA depletion and dGK gene mutations.

PubMed ID: 12205643

DOI: 10.1002/ana.10284

PubMed ID: 15639197

Title: Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes.

PubMed ID: 15639197

DOI: 10.1016/j.ymgme.2004.09.005

PubMed ID: 23043144

Title: Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.

PubMed ID: 23043144

DOI: 10.1093/brain/aws258

PubMed ID: 26874653

Title: Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension.

PubMed ID: 26874653

DOI: 10.1002/hep.28499

Sequence Information:

  • Length: 277
  • Mass: 32056
  • Checksum: 53E4514BFC2CB5E5
  • Sequence:
    • MAAGRLFLSR LRAPFSSMAK SPLEGVSSSR GLHAGRGPRR LSIEGNIAVG KSTFVKLLTK 
TYPEWHVATE PVATWQNIQA AGTQKACTAQ SLGNLLDMMY REPARWSYTF QTFSFLSRLK 
VQLEPFPEKL LQARKPVQIF ERSVYSDRYI FAKNLFENGS LSDIEWHIYQ DWHSFLLWEF 
ASRITLHGFI YLQASPQVCL KRLYQRAREE EKGIELAYLE QLHGQHEAWL IHKTTKLHFE 
ALMNIPVLVL DVNDDFSEEV TKQEDLMREV NTFVKNL

Genular Protein ID: 2731687767

Symbol: E5KSL6_HUMAN

Name: N/A

UniProtKB Accession Codes:

E5KSL6

Database IDs:

ARBA 1 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CTD 1 ChEBI 1 DNASU 1 DisGeNET 1 EMBL 43 ExpressionAtlas 1 GO 4 Gene3D 1 HOGENOM 1 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PIRSR 2 Pfam 2 RefSeq 1 SMR 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 20843780

Title: Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

PubMed ID: 20843780

DOI: 10.1093/nar/gkq750

Sequence Information:

  • Length: 189
  • Mass: 21439
  • Checksum: 0E0CBD1BBBE34002
  • Sequence:
    • MAAGRLFLSR LRAPFSSMAK SPLEGVSSSR GLHAGRGPRR LSIEGNIAVG KSTFVKLLTK 
TYPEWHVATE PVATWQNIQA AGTQKACTAQ SLGNLLDMMY REPARWSYTF QTFSFLSRLK 
VQLEPFPEKL LQARKPVQIF ERSVYSDRLH FEALMNIPVL VLDVNDDFSE EVTKQEDLMR 
EVNTFVKNL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.