{ "uniprot_canonical_ac": "Q16854-1", "uniprot_ac": "Q16854", "uniprot_id": "DGUOK_HUMAN", "mass": { "chemical_mass": 32056.0, "monoisotopic_mass": 32056.0 }, "refseq": { "ac": "NP_001305788", "name": "deoxyguanosine kinase, mitochondrial isoform c precursor", "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].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305788" }, "gene_names": [ { "name": "DGUOK", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q16854", "id": "Q16854" }, { "name": "DGK", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q16854", "id": "Q16854" }, { "name": "DGUOK", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305788", "id": "NP_001305788" }, { "name": "dGK; MTDPS3; NCPH; NCPH1; PEOB4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305788", "id": "NP_001305788" } ], "protein_names": [ { "name": "Deoxyguanosine kinase, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q16854" }, { "name": "2.7.1.113", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q16854" }, { "name": "2.7.1.76", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q16854" }, { "name": "Deoxyadenosine kinase, mitochondrial", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q16854" }, { "name": "deoxyguanosine kinase, mitochondrial isoform c precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305788", "id": "NP_001305788" }, { "name": "deoxyguanosine kinase, mitochondrial; deoxyadenosine kinase, mitochondrial", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305788", "id": "NP_001305788" } ], "function": [ { "annotation": "DGUOK deficiency and mutation is associated with mitochondrial DNA depletion syndromes.", "evidence": [ { "database": "RefSeq", "id": "NP_001305788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305788" }, { "database": "PubMed", "id": "28493820", "url": "https://glygen.org/publication/PubMed/28493820" } ] }, { "annotation": "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].", "evidence": [ { "database": "RefSeq", "id": "NP_001305788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305788" } ] }, { "annotation": "Phosphorylates deoxyguanosine and deoxyadenosine in the mitochondrial matrix, with the highest efficiency for deoxyguanosine (PubMed:8692979, PubMed:8706825, PubMed:11687801, PubMed:17073823, PubMed:23043144). In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on DGUOK and TK2. Phosphorylates certain nucleoside analogs (By similarity). Widely used as target of antiviral and chemotherapeutic agents.", "evidence": [ { "database": "UniProtKB", "id": "Q16854", "url": "https://www.uniprot.org/uniprot/Q16854#function" }, { "database": "PubMed", "id": "8706825", "url": "https://glygen.org/publication/PubMed/8706825" }, { "database": "PubMed", "id": "11687801", "url": "https://glygen.org/publication/PubMed/11687801" }, { "database": "PubMed", "id": "23043144", "url": "https://glygen.org/publication/PubMed/23043144" }, { "database": "PubMed", "id": "17073823", "url": "https://glygen.org/publication/PubMed/17073823" }, { "database": "UniProtKB", "id": "Q9QX60", "url": "https://www.uniprot.org/uniprot/Q9QX60#function" }, { "database": "PubMed", "id": "8692979", "url": "https://glygen.org/publication/PubMed/8692979" } ] }, { "annotation": "Rare homozygous p.N46S mutation associated with idiopathic noncirrhotic portal hypertension", "evidence": [ { "database": "RefSeq", "id": "NP_001305788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305788" }, { "database": "PubMed", "id": "26874653", "url": "https://glygen.org/publication/PubMed/26874653" } ] }, { "annotation": "Sequencing results showed that the patient was a compound heterozygote for c.679G>A and c.817delT in the DGUOK gene", "evidence": [ { "database": "RefSeq", "id": "NP_001305788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305788" }, { "database": "PubMed", "id": "27324545", "url": "https://glygen.org/publication/PubMed/27324545" } ] }, { "annotation": "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 .", "evidence": [ { "database": "RefSeq", "id": "NP_001305788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305788" }, { "database": "PubMed", "id": "26773591", "url": "https://glygen.org/publication/PubMed/26773591" } ] } ], "disease": [ { "disease_id": "DOID:0080121", "recommended_name": { "id": "DOID:0080121", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080121", "name": "mitochondrial DNA depletion syndrome 3", "description": "A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13." }, "synonyms": [ { "id": "DOID:0080121", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080121", "name": "deoxyguanosine kinase deficiency", "description": "" }, { "id": "MONDO:0009636", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009636", "name": "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)", "description": "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene." }, { "id": "MONDO:0009636", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009636", "name": "DGUOK mitochondrial DNA depletion syndrome", "description": "" }, { "id": "MONDO:0009636", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009636", "name": "mitochondrial DNA depletion syndrome 3", "description": "" }, { "id": "MONDO:0009636", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009636", "name": "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)", "description": "" }, { "id": "MONDO:0009636", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009636", "name": "mitochondrial DNA depletion syndrome caused by mutation in DGUOK", "description": "" }, { "id": "MONDO:0009636", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009636", "name": "mitochondrial DNA depletion syndrome type 3", "description": "" }, { "id": "MONDO:0009636", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009636", "name": "MTDPS3", "description": "" }, { "id": "MONDO:0009636", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009636", "name": "mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency", "description": "" }, { "id": "MIM:251880", "resource": "MIM", "url": "https://www.omim.org/entry/251880", "name": "Mitochondrial DNA depletion syndrome 3", "description": "Mitochondrial DNA depletion syndrome 3" } ], "evidence": [ { "id": "251880", "database": "MIM", "url": "https://www.omim.org/entry/251880" } ] }, { "disease_id": "DOID:0111516", "recommended_name": { "id": "DOID:0111516", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111516", "name": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4", "description": "A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1." }, "synonyms": [ { "id": "DOID:0111516", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111516", "name": "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency", "description": "" }, { "id": "DOID:0111516", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111516", "name": "PEOB4", "description": "" }, { "id": "DOID:0111516", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111516", "name": "autosomal recessive progressive external ophthalmoplegia 4", "description": "" }, { "id": "DOID:0111516", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111516", "name": "adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency", "description": "" }, { "id": "MONDO:0014899", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014899", "name": "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency", "description": "Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism." }, { "id": "MONDO:0014899", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014899", "name": "PEOB4", "description": "" }, { "id": "MONDO:0014899", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014899", "name": "adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency", "description": "" }, { "id": "MONDO:0014899", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014899", "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4", "description": "" }, { "id": "MONDO:0014899", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014899", "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 4", "description": "" }, { "id": "MONDO:0014899", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014899", "name": "progressive external ophthalmoplegia, autosomal recessive 4", "description": "" }, { "id": "MIM:617070", "resource": "MIM", "url": "https://www.omim.org/entry/617070", "name": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4", "description": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4" } ], "evidence": [ { "id": "617070", "database": "MIM", "url": "https://www.omim.org/entry/617070" } ] }, { "disease_id": "MONDO:8000013", "recommended_name": { "id": "MONDO:8000013", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:8000013", "name": "portal hypertension, noncirrhotic, 1", "description": "" }, "synonyms": [ { "id": "MONDO:8000013", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:8000013", "name": "portal hypertension, noncirrhotic", "description": "" }, { "id": "MONDO:8000013", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:8000013", "name": "NCPH", "description": "" }, { "id": "MONDO:8000013", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:8000013", "name": "portal hypertension, noncirrhotic; NCPH", "description": "" }, { "id": "MIM:617068", "resource": "MIM", "url": "https://www.omim.org/entry/617068", "name": "Portal hypertension, non-cirrhotic, 1", "description": "Portal hypertension, non-cirrhotic, 1" } ], "evidence": [ { "id": "617068", "database": "MIM", "url": "https://www.omim.org/entry/617068" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "88.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114956", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114956" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "87.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114956", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114956" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "87.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114956", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114956" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "86.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114956", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114956" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "95.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114956", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114956" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114956", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114956" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "87.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114956", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114956" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "92.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114956", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114956" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "93.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114956", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114956" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "82.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000114956", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114956" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "88.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114956", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114956" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "95.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114956", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114956" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "94.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114956", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114956" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q16854", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q16854" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", 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"id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q16854", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q16854" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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"name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q16854", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q16854" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q16854" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL5997", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL5997", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "DGUOK", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=DGUOK", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "1716", "url": "https://www.ncbi.nlm.nih.gov/gene/1716", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "2858", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2858", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q16854", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q16854*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002624", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002624", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027417", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR031314", "url": "https://www.ebi.ac.uk/interpro/entry/IPR031314", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:1716", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1716", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "251880", "url": "http://www.omim.org/entry/251880", "database": "MIM", "categories": [ "Other" ] }, { "id": "601465", "url": "http://www.omim.org/entry/601465", "database": "MIM", "categories": [ "Other" ] }, { "id": "617068", "url": "http://www.omim.org/entry/617068", "database": "MIM", "categories": [ "Other" ] }, { "id": "617070", "url": "http://www.omim.org/entry/617070", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q16854", "url": "https://www.nextprot.org/entry/NX_Q16854", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "DWHTFLL", "url": "https://omabrowser.org/oma/group/DWHTFLL/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "315858at2759", "url": "http://www.orthodb.org/?query=315858at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10513", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10513", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10513:SF8", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10513:SF8", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2OCP", "url": "https://www.rcsb.org/structure/2OCP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01712", "url": "http://pfam.xfam.org/family/PF01712", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q16854", "url": "https://pharos.nih.gov/targets/Q16854", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q16854", "url": "http://purl.obolibrary.org/obo/PR_Q16854", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001305788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305788", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "19201", "url": "https://www.rhea-db.org/rhea/19201", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "23452", "url": "https://www.rhea-db.org/rhea/23452", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "Q16854", "url": "https://www.uniprot.org/uniprot/Q16854", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q16854-1", "url": "https://www.uniprot.org/uniprot/Q16854-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q16854-2", "url": "https://www.uniprot.org/uniprot/Q16854-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q16854-3", "url": "https://www.uniprot.org/uniprot/Q16854-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q16854-4", "url": "https://www.uniprot.org/uniprot/Q16854-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q16854-5", "url": "https://www.uniprot.org/uniprot/Q16854-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q16854-6", "url": "https://www.uniprot.org/uniprot/Q16854-6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPRRLSIEGNIAVGKSTFVKLLTKTYPEWHVATEPVATWQNIQAAGTQKACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLKVQLEPFPEKLLQARKPVQIFERSVYSDRYIFAKNLFENGSLSDIEWHIYQDWHSFLLWEFASRITLHGFIYLQASPQVCLKRLYQRAREEEKGIELAYLEQLHGQHEAWLIHKTTKLHFEALMNIPVLVLDVNDDFSEEVTKQEDLMREVNTFVKNL", "length": 277, "header": "sp|Q16854-1|DGUOK_HUMAN Isoform 1 of Deoxyguanosine kinase, mitochondrial OS=Homo sapiens OX=9606 GN=DGUOK PE=1 SV=2 CANONICAL=Q16854-1" }, "isoforms": [ { "isoform_ac": "Q16854-1", "url": "", "sequence": { "sequence": "MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPRRLSIEGNIAVGKSTFVKLLTKTYPEWHVATEPVATWQNIQAAGTQKACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLKVQLEPFPEKLLQARKPVQIFERSVYSDRYIFAKNLFENGSLSDIEWHIYQDWHSFLLWEFASRITLHGFIYLQASPQVCLKRLYQRAREEEKGIELAYLEQLHGQHEAWLIHKTTKLHFEALMNIPVLVLDVNDDFSEEVTKQEDLMREVNTFVKNL", "length": 277, "header": "sp|Q16854-1|DGUOK_HUMAN Isoform 1 of Deoxyguanosine kinase, mitochondrial OS=Homo sapiens OX=9606 GN=DGUOK PE=1 SV=2 CANONICAL=Q16854-1" }, "locus": { "chromosome": "2", "start_pos": 73958733, "end_pos": 73926911, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000264093.9", "url": "https://www.ensembl.org/id/ENST00000264093.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000264093.4", "url": "https://www.ensembl.org/id/ENSP00000264093.4" } ] } }, { "isoform_ac": "Q16854-2", "url": "", "sequence": { "sequence": "MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPRRLSIEGNIAVGKSTFVKLLTKTYPEWHVATEPVATWQNIQAAGTQKACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLKVQLEPFPEKLLQARKPVQIFERSVYSDRLHFEALMNIPVLVLDVNDDFSEEVTKQEDLMREVNTFVKNL", "length": 189, "header": "sp|Q16854-2|DGUOK_HUMAN Isoform 2 of Deoxyguanosine kinase, mitochondrial OS=Homo sapiens OX=9606 GN=DGUOK PE=1 SV=2 CANONICAL=Q16854-1" }, "locus": { "chromosome": "2", "start_pos": 73958733, "end_pos": 73926911, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000348222.3", "url": "https://www.ensembl.org/id/ENST00000348222.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000306964.3", "url": "https://www.ensembl.org/id/ENSP00000306964.3" } ] } }, { "isoform_ac": "Q16854-3", "url": "", "sequence": { "sequence": "MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPRRLSIEGNIACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLKVQLEPFPEKLLQARKPVQIFERSVYSDRYIFAKNLFENGSLSDIEWHIYQDWHSFLLWEFASRITLHGFIYLQASPQVCLKRLYQRAREEEKGIELAYLEQLHGQHEAWLIHKTTKLHFEALMNIPVLVLDVNDDFSEEVTKQEDLMREVNTFVKNL", "length": 239, "header": "sp|Q16854-3|DGUOK_HUMAN Isoform 3 of Deoxyguanosine kinase, mitochondrial OS=Homo sapiens OX=9606 GN=DGUOK PE=1 SV=2 CANONICAL=Q16854-1" }, "locus": {} }, { "isoform_ac": "Q16854-4", "url": "", "sequence": { "sequence": "MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPRRLSIEGNIACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLKVQLEPFPEKLLQARKPVQIFERSVYSDRLHFEALMNIPVLVLDVNDDFSEEVTKQEDLMREVNTFVKNL", "length": 151, "header": "sp|Q16854-4|DGUOK_HUMAN Isoform 4 of Deoxyguanosine kinase, mitochondrial OS=Homo sapiens OX=9606 GN=DGUOK PE=1 SV=2 CANONICAL=Q16854-1" }, "locus": {} }, { "isoform_ac": "Q16854-5", "url": "", "sequence": { "sequence": "MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPRRLSIEGNIGNILKQIRGRAPIQETACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLKVQLEPFPEKLLQARKPVQIFERSVYSDRYIFAKNLFENGSLSDIEWHIYQDWHSFLLWEFASRITLHGFIYLQASPQVCLKRLYQRAREEEKGIELAYLEQLHGQHEAWLIHKTTKLHFEALMNIPVLVLDVNDDFSEEVTKQEDLMREVNTFVKNL", "length": 255, "header": "sp|Q16854-5|DGUOK_HUMAN Isoform 5 of Deoxyguanosine kinase, mitochondrial OS=Homo sapiens OX=9606 GN=DGUOK PE=1 SV=2 CANONICAL=Q16854-1" }, "locus": {} }, { "isoform_ac": "Q16854-6", "url": "", "sequence": { "sequence": "MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPRRLSIEGNIGLHCPKSWKLAGYDVPGASTMVLHIPDIFLFEPPESTAGALP", "length": 89, "header": "sp|Q16854-6|DGUOK_HUMAN Isoform 6 of Deoxyguanosine kinase, mitochondrial OS=Homo sapiens OX=9606 GN=DGUOK PE=1 SV=2 CANONICAL=Q16854-1" }, "locus": { "chromosome": "2", "start_pos": 73946843, "end_pos": 73926911, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000629438.2", "url": "https://www.ensembl.org/id/ENST00000629438.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000487122.1", "url": "https://www.ensembl.org/id/ENSP00000487122.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Structural basis for substrate specificities of cellular deoxyribonucleoside kinases.", "journal": "Nat. Struct. Biol.", "date": "2001", "authors": "Johansson K, Ramaswamy S, Ljungcrantz C, Knecht W, Piskur J, Munch-Petersen B, Eriksson S, Eklund H", "evidence": [ { "database": "UniProtKB", "id": "Q16854", "url": "https://www.uniprot.org/uniprot/Q16854" }, { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "11427893", "url": "https://glygen.org/publication/PubMed/11427893" } ] }, { "title": "Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.", "journal": "Nat. Genet.", "date": "2001", "authors": "Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O", "evidence": [ { "database": "UniProtKB", "id": "Q16854", "url": "https://www.uniprot.org/uniprot/Q16854" } ], "reference": [ { "type": "PubMed", "id": "11687801", "url": "https://glygen.org/publication/PubMed/11687801" } ] }, { "title": "NADPH-dependent GMP reductase isoenzyme of human (GMPR2). Expression, purification, and kinetic properties.", "journal": "The international journal of biochemistry & cell biology", "date": "2002", "authors": "Deng Y, Wang Z, Ying K, Gu S, Ji C, Huang Y, Gu X, Wang Y, Xu Y, Li Y, Xie Y, Mao Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "12009299", "url": "https://glygen.org/publication/PubMed/12009299" } ] }, { "title": "Mitochondrial DNA depletion and dGK gene mutations.", "journal": "Ann. Neurol.", "date": "2002", "authors": "Salviati L, Sacconi S, Mancuso M, Otaegui D, Camano P, Marina A, Rabinowitz S, Shiffman R, Thompson K, Wilson CM, Feigenbaum A, Naini AB, Hirano M, Bonilla E, DiMauro S, Vu TH", "evidence": [ { "database": "UniProtKB", "id": "Q16854", "url": "https://www.uniprot.org/uniprot/Q16854" } ], "reference": [ { "type": "PubMed", "id": "12205643", "url": "https://glygen.org/publication/PubMed/12205643" } ] }, { "title": "Molecular cloning of AMP deaminase isoform L. Sequence and bacterial expression of human AMPD2 cDNA.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Bausch-Jurken MT, Mahnke-Zizelman DK, Morisaki T, Sabina RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "1429593", "url": "https://glygen.org/publication/PubMed/1429593" } ] }, { "title": "Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes.", "journal": "Mol. Genet. Metab.", "date": "2005", "authors": "Wang L, Limongelli A, Vila MR, Carrara F, Zeviani M, Eriksson S", "evidence": [ { "database": "UniProtKB", "id": "Q16854", "url": "https://www.uniprot.org/uniprot/Q16854" } ], "reference": [ { "type": "PubMed", "id": "15639197", "url": "https://glygen.org/publication/PubMed/15639197" } ] }, { "title": "Crystal structure of human guanosine monophosphate reductase 2 (GMPR2) in complex with GMP.", "journal": "Journal of molecular biology", "date": "2006", "authors": "Li J, Wei Z, Zheng M, Gu X, Deng Y, Qiu R, Chen F, Ji C, Gong W, Xie Y, Mao Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "16359702", "url": "https://glygen.org/publication/PubMed/16359702" } ] }, { "title": "Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion.", "journal": "Biochem. J.", "date": "2007", "authors": "Mousson de Camaret B, Taanman JW, Padet S, Chassagne M, Mayencon M, Clerc-Renaud P, Mandon G, Zabot MT, Lachaux A, Bozon D", "evidence": [ { "database": "UniProtKB", "id": "Q16854", "url": "https://www.uniprot.org/uniprot/Q16854" } ], "reference": [ { "type": "PubMed", "id": "17073823", "url": "https://glygen.org/publication/PubMed/17073823" } ] }, { "title": "Structural complexes of human adenine phosphoribosyltransferase reveal novel features of the APRT catalytic mechanism.", "journal": "Journal of biomolecular structure & dynamics", "date": "2008", "authors": "Silva CH, Silva M, Iulek J, Thiemann OH", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "18399692", "url": "https://glygen.org/publication/PubMed/18399692" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q16854", "url": "https://www.uniprot.org/uniprot/Q16854" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Three-dimensional structure of human erythrocytic purine nucleoside phosphorylase at 3.2 A resolution.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Ealick SE, Rule SA, Carter DC, Greenhough TJ, Babu YS, Cook WJ, Habash J, Helliwell JR, Stoeckler JD, Parks RE Jr, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "2104852", "url": "https://glygen.org/publication/PubMed/2104852" } ] }, { "title": "Adenosine deaminase-like protein 1 (ADAL1): characterization and substrate specificity in the hydrolysis of N(6)- or O(6)-substituted purine or 2-aminopurine nucleoside monophosphates.", "journal": "Journal of medicinal chemistry", "date": "2011", "authors": "Murakami E, Bao H, Mosley RT, Du J, Sofia MJ, Furman PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "21755941", "url": "https://glygen.org/publication/PubMed/21755941" } ] }, { "title": "Reaction mechanism and specificity of human GMP reductase. Substrates, inhibitors, activators, and inactivators.", "journal": "The Journal of biological chemistry", "date": "1979", "authors": "Spector T, Jones TE, Miller RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "218932", "url": "https://glygen.org/publication/PubMed/218932" } ] }, { "title": "Purification and properties of human placental adenosine kinase.", "journal": "The Journal of biological chemistry", "date": "1979", "authors": "Andres CM, Fox IH", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "227870", "url": "https://glygen.org/publication/PubMed/227870" } ] }, { "title": "Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.", "journal": "Brain", "date": "2012", "authors": "Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, Ranieri M, Rizzuti M, Villa L, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, DiMauro S, Comi GP, Sciacco M", "evidence": [ { "database": "UniProtKB", "id": "Q16854", "url": "https://www.uniprot.org/uniprot/Q16854" } ], "reference": [ { "type": "PubMed", "id": "23043144", "url": "https://glygen.org/publication/PubMed/23043144" } ] }, { "title": "Human T-lymphoblast deoxycytidine kinase: purification and properties.", "journal": "Biochemistry", "date": "1989", "authors": "Datta NS, Shewach DS, Hurley MC, Mitchell BS, Fox IH", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "2539852", "url": "https://glygen.org/publication/PubMed/2539852" } ] }, { "title": "Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome.", "journal": "Free radical biology & medicine", "date": "2016", "authors": "Bennett B, Helbling D, Meng H, Jarzembowski J, Geurts AM, Friederich MW, Van Hove JLK, Lawlor MW, Dimmock DP", "evidence": [ { "database": "RefSeq", "id": "NP_001305788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305788" } ], "reference": [ { "type": "PubMed", "id": "26773591", "url": "https://glygen.org/publication/PubMed/26773591" } ] }, { "title": "Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension.", "journal": "Hepatology", "date": "2016", "authors": "Vilarinho S, Sari S, Yilmaz G, Stiegler AL, Boggon TJ, Jain D, Akyol G, Dalgic B, Gunel M, Lifton RP", "evidence": [ { "database": "UniProtKB", "id": "Q16854", "url": "https://www.uniprot.org/uniprot/Q16854" }, { "database": "RefSeq", "id": "NP_001305788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305788" } ], "reference": [ { "type": "PubMed", "id": "26874653", "url": "https://glygen.org/publication/PubMed/26874653" } ] }, { "title": "[Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome].", "journal": "Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics", "date": "2016", "authors": "Deng M, Lin WX, Guo L, Zhang ZH, Song YZ", "evidence": [ { "database": "RefSeq", "id": "NP_001305788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305788" } ], "reference": [ { "type": "PubMed", "id": "27324545", "url": "https://glygen.org/publication/PubMed/27324545" } ] }, { "title": "Deoxycytidine kinase from human leukemic spleen: preparation and characteristics of homogeneous enzyme.", "journal": "Biochemistry", "date": "1988", "authors": "Bohman C, Eriksson S", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "2844225", "url": "https://glygen.org/publication/PubMed/2844225" } ] }, { "title": "Properties of a highly purified mitochondrial deoxyguanosine kinase.", "journal": "Archives of biochemistry and biophysics", "date": "1988", "authors": "Park I, Ives DH", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "2845866", "url": "https://glygen.org/publication/PubMed/2845866" } ] }, { "title": "Deoxyguanosine kinase deficiency: a report of four patients.", "journal": "Journal of pediatric endocrinology & metabolism : JPEM", "date": "2017", "authors": "Unal O, Hismi B, Kilic M, Gulsen HH, Coskun T, Sivri SH, Dursun A, Yuce A, Tokatli A", "evidence": [ { "database": "RefSeq", "id": "NP_001305788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305788" } ], "reference": [ { "type": "PubMed", "id": "28493820", "url": "https://glygen.org/publication/PubMed/28493820" } ] }, { "title": "Regulation of deoxyadenosine and nucleoside analog phosphorylation by human placental adenosine kinase.", "journal": "The Journal of biological chemistry", "date": "1985", "authors": "Hurley MC, Lin B, Fox IH", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "2999129", "url": "https://glygen.org/publication/PubMed/2999129" } ] }, { "title": "A human purine nucleoside phosphorylase deficiency caused by a single base change.", "journal": "The Journal of biological chemistry", "date": "1987", "authors": "Williams SR, Gekeler V, McIvor RS, Martin DW Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "3029074", "url": 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Affinity purification, subunit structure, amino acid composition, and peptide mapping.", "journal": "The Journal of biological chemistry", "date": "1979", "authors": "Holden JA, Meredith GS, Kelley WN", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "457664", "url": "https://glygen.org/publication/PubMed/457664" } ] }, { "title": "Effects of mutational loss of adenosine kinase and deoxycytidine kinase on deoxyATP accumulation and deoxyadenosine toxicity in cultured CEM human T-lymphoblastoid cells.", "journal": "The Journal of biological chemistry", "date": "1982", "authors": "Hershfield MS, Fetter JE, Small WC, Bagnara AS, Williams SR, Ullman B, Martin DW Jr, Wasson DB, Carson DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "6281270", "url": "https://glygen.org/publication/PubMed/6281270" } ] }, { "title": "Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1983", "authors": "Jolly DJ, Okayama H, Berg P, Esty AC, Filpula D, Bohlen P, Johnson GG, Shively JE, Hunkapillar T, Friedmann T", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "6300847", "url": "https://glygen.org/publication/PubMed/6300847" } ] }, { "title": "Characterization of purine nucleoside phosphorylase from human granulocytes and its metabolism of deoxyribonucleosides.", "journal": "The Journal of biological chemistry", "date": "1980", "authors": "Wiginton DA, Coleman MS, Hutton JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "6771276", "url": "https://glygen.org/publication/PubMed/6771276" } ] }, { "title": "Cloning and expression of human deoxyguanosine kinase cDNA.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1996", "authors": "Johansson M, Karlsson A", "evidence": [ { "database": "UniProtKB", "id": "Q16854", "url": "https://www.uniprot.org/uniprot/Q16854" }, { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "8692979", "url": "https://glygen.org/publication/PubMed/8692979" } ] }, { "title": "Cloning and expression of human mitochondrial deoxyguanosine kinase cDNA.", "journal": "FEBS Lett.", "date": "1996", "authors": "Wang L, Hellman U, Eriksson S", "evidence": [ { "database": "UniProtKB", "id": "Q16854", "url": "https://www.uniprot.org/uniprot/Q16854" } ], "reference": [ { "type": "PubMed", "id": "8706825", "url": "https://glygen.org/publication/PubMed/8706825" } ] }, { "title": "The intracellular localization of deoxycytidine kinase.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Hatzis P, Al-Madhoon AS, Jullig M, Petrakis TG, Eriksson 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