{ "uniprot_canonical_ac": "P00568-1", "uniprot_ac": "P00568", "uniprot_id": "KAD1_HUMAN", "mass": { "chemical_mass": 21635.0, "monoisotopic_mass": 21635.0 }, "refseq": { "ac": "NP_000467", "name": "adenylate kinase isoenzyme 1 isoform 1", "summary": "This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene shares readthrough transcripts with the upstream ST6GALNAC6 gene. [provided by RefSeq, Jan 2022].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000467" }, "gene_names": [ { "name": "AK1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P00568", "id": "P00568" }, { "name": "AK1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000467", "id": "NP_000467" }, { "name": "HTL-S-58j", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000467", "id": "NP_000467" } ], "protein_names": [ { "name": "Adenylate kinase isoenzyme 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P00568" }, { "name": "2.7.4.10", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00568" }, { "name": "2.7.4.3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00568" }, { "name": "2.7.4.6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00568" }, { "name": "AK 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00568" }, { "name": "ATP-AMP transphosphorylase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00568" }, { "name": "ATP:AMP phosphotransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00568" }, { "name": "Adenylate monophosphate kinase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00568" }, { "name": "Myokinase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00568" }, { "name": "adenylate kinase isoenzyme 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000467", "id": "NP_000467" }, { "name": "adenylate kinase isoenzyme 1; myokinase; ATP-AMP transphosphorylase 1; ATP:AMP phosphotransferase; adenylate monophosphate kinase; testis secretory sperm binding protein Li 58j; epididymis secretory sperm binding protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000467", "id": "NP_000467" } ], "function": [ { "annotation": "A co-expressed gene status of adenylate kinase 1/4 reveals prognostic gene signature associated with prognosis and sensitivity to EGFR targeted therapy in lung adenocarcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000467", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000467" }, { "database": "PubMed", "id": "31444368", "url": "https://glygen.org/publication/PubMed/31444368" } ] }, { "annotation": "Case Reports: first case of adenylate kinase deficiency in Indian population due to novel AK1 mutations (c.71A>G and c.413G>A) associated with nonspherocytic haemolytic anaemia without psychomotor impairment.", "evidence": [ { "database": "RefSeq", "id": "NP_000467", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000467" }, { "database": "PubMed", "id": "30918013", "url": "https://glygen.org/publication/PubMed/30918013" } ] }, { "annotation": "Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP (PubMed:2542324). Exhibits nucleoside diphosphate kinase activity, catalyzing the production of ATP, CTP, GTP, UTP, dATP, dCTP, dGTP and dTTP from the corresponding diphosphate substrates with either ATP or GTP as phosphate donor (PubMed:23416111). Also catalyzes at a very low rate the synthesis of thiamine triphosphate (ThTP) from thiamine diphosphate (ThDP) and ADP (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P00568", "url": "https://www.uniprot.org/uniprot/P00568#function" }, { "database": "UniProtKB", "id": "MF_03171", "url": "https://www.uniprot.org/uniprot/MF_03171#function" }, { "database": "PubMed", "id": "23416111", "url": "https://glygen.org/publication/PubMed/23416111" }, { "database": "PubMed", "id": "2542324", "url": "https://glygen.org/publication/PubMed/2542324" }, { "database": "UniProtKB", "id": "P05081", "url": "https://www.uniprot.org/uniprot/P05081#function" } ] }, { "annotation": "Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays broad nucleoside diphosphate kinase activity. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism.", "evidence": [ { "database": "UniProtKB", "id": "Q5T9B7", "url": "https://www.uniprot.org/uniprot/Q5T9B7#function" }, { "database": "UniProtKB", "id": "MF_03171", "url": "https://www.uniprot.org/uniprot/MF_03171#function" } ] }, { "annotation": "High expression of AK1 predicts inferior prognosis in acute myeloid leukemia patients undergoing chemotherapy.", "evidence": [ { "database": "RefSeq", "id": "NP_000467", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000467" }, { "database": "PubMed", "id": "32519744", "url": "https://glygen.org/publication/PubMed/32519744" } ] }, { "annotation": "Specific DNA methylation signatures for aggressive choroid plexus carcinoma (CPC) revealed AK1, PER2, and PLSCR4 as potential biomarkers for CPC that can be used to improve molecular stratification for diagnosis and treatment. Erratum:[Clin Epigenetics. 2019 Oct 21;11(1):144. PMID: 31639040] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000467", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000467" }, { "database": "PubMed", "id": "31409384", "url": "https://glygen.org/publication/PubMed/31409384" } ] }, { "annotation": "The mRNA and protein expressions of AK1, AK6 and AK7 are significantly down-regulated in the sperm of asthenospermia patients, which may be closely related with reduced sperm motility.", "evidence": [ { "database": "RefSeq", "id": "NP_000467", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000467" }, { "database": "PubMed", "id": "32251557", "url": "https://glygen.org/publication/PubMed/32251557" } ] }, { "annotation": "This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene shares readthrough transcripts with the upstream ST6GALNAC6 gene. [provided by RefSeq, Jan 2022].", "evidence": [ { "database": "RefSeq", "id": "NP_000467", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000467" } ] } ], "disease": [ { "disease_id": "DOID:583", "recommended_name": { "id": "DOID:583", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:583", "name": "hemolytic anemia", "description": "" }, "synonyms": [ { "id": "DOID:583", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:583", "name": "ANEMIA HEMOLYTIC", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "hemolytic anemia due to pyrimidine 5' nucleotidase deficiency", "description": "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported." }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "P5N deficiency", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "UMPH1 deficiency", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "anemia, hemolytic, due to UMPH1 deficiency", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "uridine 5'-monophosphate hydrolase deficiency", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "Umph1 deficiency", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "hemolytic Anaemia due to P5N deficiency", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "hemolytic Anaemia due to Umph1 deficiency", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "hemolytic Anemia due to P5N deficiency", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "hemolytic Anemia due to Umph1 deficiency", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anaemia due to", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anemia due to", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to", "description": "" }, { "id": "MONDO:0012967", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012967", "name": "hemolytic anemia due to adenylate kinase deficiency", "description": "Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment." }, { "id": "MONDO:0012967", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012967", "name": "ADENYLATE KINASE deficiency, hemolytic anaemia due to", "description": "" }, { "id": "MONDO:0012967", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012967", "name": "ADENYLATE KINASE deficiency, hemolytic anemia due to", "description": "" }, { "id": "MIM:266120", "resource": "MIM", "url": "https://www.omim.org/entry/266120", "name": "P5N deficiency", "description": "P5N deficiency" }, { "id": "MIM:612631", "resource": "MIM", "url": "https://www.omim.org/entry/612631", "name": "Hemolytic anemia due to adenylate kinase deficiency", "description": "Hemolytic anemia due to adenylate kinase deficiency" } ], "evidence": [ { "id": "612631", "database": "MIM", "url": "https://www.omim.org/entry/612631" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "76.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106992", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106992" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "66.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106992", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106992" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "88.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106992", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106992" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "87.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106992", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106992" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "96.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106992", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106992" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106992", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106992" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "76.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106992", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106992" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "81.31", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106992", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106992" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106992", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106992" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "74.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106992", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106992" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "85.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106992", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106992" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "92.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106992", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106992" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "91.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106992", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106992" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P00568", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00568" } ], "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", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "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", 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"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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P00568", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00568" } ], "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", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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": 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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": "P00568", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00568" } ], "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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"name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"header": "tr|Q5T9B7-1|KAD1_HUMAN Computationally mapped isoform of Adenylate kinase isoenzyme 1 OS=Homo sapiens OX=9606 GN=AK1 PE=1 SV=1 CANONICAL=P00568-1" }, "locus": { "chromosome": "9", "start_pos": 127873448, "end_pos": 127868011, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000223836.10", "url": "https://www.ensembl.org/id/ENST00000223836.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000223836.10", "url": "https://www.ensembl.org/id/ENSP00000223836.10" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P00568", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P00568" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" } ] } ], "phosphorylation": [ { "start_pos": 153, "end_pos": 153, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P00568", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00568" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr153" }, { "start_pos": 38, "end_pos": 38, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P00568", "url": "https://www.uniprot.org/uniprot/P00568" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P00568", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00568" } ], "site_lbl": "Ser38" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Identification of a novel human adenylate kinase. cDNA cloning, expression analysis, chromosome localization and characterization of the recombinant protein.", "journal": "European journal of biochemistry", "date": "1999", "authors": "Van Rompay AR, Johansson M, Karlsson A", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "10215863", "url": "https://glygen.org/publication/PubMed/10215863" } ] }, { "title": "A ribonucleotide reductase gene involved in a p53-dependent cell-cycle checkpoint for DNA damage.", "journal": "Nature", "date": "2000", "authors": "Tanaka H, Arakawa H, Yamaguchi T, Shiraishi K, Fukuda S, Matsui K, Takei Y, Nakamura Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "10716435", "url": "https://glygen.org/publication/PubMed/10716435" } ] }, { "title": "The human nm23-H4 gene product is a mitochondrial nucleoside diphosphate kinase.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Milon L, Meyer P, Chiadmi M, Munier A, Johansson M, Karlsson A, Lascu I, Capeau J, Janin J, Lacombe ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "10799505", "url": "https://glygen.org/publication/PubMed/10799505" } ] }, { "title": "Cross-talk between the allosteric effector-binding sites in mouse ribonucleotide reductase.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Reichard P, Eliasson R, Ingemarson R, Thelander L", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "10884394", "url": "https://glygen.org/publication/PubMed/10884394" } ] }, { "title": "Identification of a cDNA encoding an isoform of human CTP synthetase.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "van Kuilenburg AB, Meinsma R, Vreken P, Waterham HR, van Gennip AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "10899599", "url": "https://glygen.org/publication/PubMed/10899599" } ] }, { "title": "Structural and catalytic properties and homology modelling of the human nucleoside diphosphate kinase C, product of the DRnm23 gene.", "journal": "European journal of biochemistry", "date": "2001", "authors": "Erent M, Gonin P, Cherfils J, Tissier P, Raschella G, Giartosio A, Agou F, Sarger C, Lacombe ML, Konrad M, Lascu I", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "11277919", "url": "https://glygen.org/publication/PubMed/11277919" } ] }, { "title": "Structure of human thymidylate synthase suggests advantages of chemotherapy with noncompetitive inhibitors.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Phan J, Steadman DJ, Koli S, Ding WC, Minor W, Dunlap RB, Berger SH, Lebioda L", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "11278511", "url": "https://glygen.org/publication/PubMed/11278511" } ] }, { "title": "Mammalian p53R2 protein forms an active ribonucleotide reductase in vitro with the R1 protein, which is expressed both in resting cells in response to DNA damage and in proliferating cells.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Guittet O, Hakansson P, Voevodskaya N, Fridd S, Graslund A, Arakawa H, Nakamura Y, Thelander L", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "11517226", "url": "https://glygen.org/publication/PubMed/11517226" } ] }, { "title": "Structure and function of the radical enzyme ribonucleotide reductase.", "journal": "Progress in biophysics and molecular biology", "date": "2001", "authors": "Eklund H, Uhlin U, Farnegardh M, Logan DT, Nordlund P", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "11796141", "url": "https://glygen.org/publication/PubMed/11796141" } ] }, { "title": "Characterization of human UMP/CMP kinase and its phosphorylation of D- and L-form deoxycytidine analogue monophosphates.", "journal": "Cancer research", "date": "2002", "authors": "Liou JY, Dutschman GE, Lam W, Jiang Z, Cheng YC", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "11912132", "url": "https://glygen.org/publication/PubMed/11912132" } ] }, { "title": "Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia.", "journal": "Blood", "date": "2003", "authors": "Corrons JL, Garcia E, Tusell JJ, Varughese KI, West C, Beutler E", "evidence": [ { "database": "UniProtKB", "id": "P00568", "url": "https://www.uniprot.org/uniprot/P00568" } ], "reference": [ { "type": "PubMed", "id": "12649162", "url": "https://glygen.org/publication/PubMed/12649162" } ] }, { "title": "Nucleotide binding to nucleoside diphosphate kinases: X-ray structure of human NDPK-A in complex with ADP and comparison to protein kinases.", "journal": "Journal of molecular biology", "date": "2003", "authors": "Chen Y, Gallois-Montbrun S, Schneider B, Veron M, Morera S, Deville-Bonne D, Janin J", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "12972261", "url": "https://glygen.org/publication/PubMed/12972261" } ] }, { "title": "Enzymatic phosphorylation of nucleoside diphosphates.", "journal": "The Journal of biological chemistry", "date": "1954", "authors": "BERG P, JOKLIK WK", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "13211603", "url": "https://glygen.org/publication/PubMed/13211603" } ] }, { "title": "In vitro characterization of enzymatic properties and inhibition of the p53R2 subunit of human ribonucleotide reductase.", "journal": "Cancer research", "date": "2004", "authors": "Shao J, Zhou 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"MEDKLKKAKIIFVVGGPGSGKGTQCEKIVQKYGYTHLSTGDLLRAEVSSGSSRGKMLSSIMEKGELVPLETVLDMLRDAMLAKVDSSNGFLIDGYPREVKQGEEFERKIAQPTLLLYVDAGPETMTQRLLKRGETSGRVDDNEETIKKRLETYYKATEPVISFYDKRGIVRKVNAEGSVDTVFSQVCTYLDSLK", "length": 194 }, "evidence": [ { "id": "45930771", "url": "http://www.informatics.jax.org/homology/45930771", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8IQG9-1", "protein_name": "RE68908p", "gene_name": "Ak1", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MLFMCHQRVMKKEAEEKLKAEELRRARAAADIPIIWILGGPGCGKGTQCAKIVEKYGFTHLSSGDLLRNEVASGSDKGRQLQAVMASGGLVSNDEVLSLLNDAITRAKGSSKGFLIDGYPRQKNQGIEFEARIAPADLALYFECSEDTMVQRIMARAAASAVKRDDDNEKTIRARLLTFKQNTNAILELYEPKTLTINAERDVDDIFLEVVQAIDCVLKKKQQNAAAQC", "length": 229 }, "evidence": [ { "id": "P00568", "url": "https://omabrowser.org/oma/group/P00568/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "Q9R0Y5-1", "protein_name": "Adenylate kinase isoenzyme 1", 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"id": "GO:0006172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006172", "evidence": [ { "database": "UniProtKB", "id": "P00568", "url": "https://www.uniprot.org/uniprot/P00568" } ], "pmid": "" }, { "name": "AMP metabolic process", "id": "GO:0046033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046033", "evidence": [ { "database": "UniProtKB", "id": "P00568", "url": "https://www.uniprot.org/uniprot/P00568" } ], "pmid": "" }, { "name": "ATP metabolic process", "id": "GO:0046034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046034", "evidence": [ { "database": "UniProtKB", "id": "P00568", "url": "https://www.uniprot.org/uniprot/P00568" } ], "pmid": "" }, { "name": "nucleoside triphosphate biosynthetic process", "id": "GO:0009142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009142", "evidence": [ { "database": "UniProtKB", "id": "P00568", "url": "https://www.uniprot.org/uniprot/P00568" } ], "pmid": "" }, { "name": "nucleobase-containing small molecule interconversion", "id": "GO:0015949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015949", "evidence": [ { "database": "UniProtKB", "id": "P00568", "url": "https://www.uniprot.org/uniprot/P00568" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P00568", "url": "https://www.uniprot.org/uniprot/P00568" } ], "pmid": "" }, { "name": "outer dense fiber", "id": "GO:0001520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001520", "evidence": [ { "database": "UniProtKB", "id": "P00568", "url": "https://www.uniprot.org/uniprot/P00568" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P00568", "url": "https://www.uniprot.org/uniprot/P00568" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P00568", "url": "https://www.uniprot.org/uniprot/P00568" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 85, "end_pos": 87, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "12973", "name": "", "equation": "AMP + ATP = 2 ADP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q68FP8-1", "Q5EB68-1", "P29410-1", "Q5BKE0-1", "P39069-1", "A0A8I5ZQQ9-1", "P54819-1", "Q9Y6K8-1", "P00568-1", "Q96MA6-1", "Q9Y3D8-1", "Q96M32-1", "Q9WTP6-1", "Q9R0Y5-1", "Q920P5-1", "Q8VCP8-1", "Q32M07-1", "Q9D2H2-2", "P07170-1", "Q12055-1", "Q54Y03-1", "Q54CT8-1", "Q54QJ9-1", "Q9U915-1", "Q7JYV7-1", "Q9VA43-1" ], "evidence": [ { "id": "12973", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/12973" } ] }, { "id": "13749", "name": "", "equation": "a ribonucleoside 5'-triphosphate + AMP = a ribonucleoside 5'-diphosphate + ADP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P39069-1", "P29411-1", "Q9WUS0-1", "P27144-1", "Q9UIJ7-1", "P00568-1", "A0A8I5KW96-1", "Q9WUR9-1", "Q9WTP7-1", "Q9R0Y5-1", "P26364-1", "Q9VGU6-1" ], "evidence": [ { "id": "13749", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/13749" } ] }, { "id": "18113", "name": "", "equation": "a ribonucleoside 5'-diphosphate + ATP = a ribonucleoside 5'-triphosphate + ADP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q05982-1", "Q9QXL7-1", "O88426-1", "Q68FP8-1", "Q4KM73-1", "P19804-1", "Q9WUS0-1", "P39069-1", "Q9Z2M4-1", "G3V816-1", "A0A8I6A4T4-1", "A0A8I6AII3-1", "Q5EBM0-1", "Q5TCS8-4", "P27144-1", "P30085-1", "Q9Y6K8-1", "P00568-1", "Q96MA6-1", "Q96M32-1", "Q13232-1", "Q9Y5B8-1", "P15531-1", "O60361-1", "O00746-1", "P22392-1", "O75414-1", "A0A8I5KW96-1", "Q3U5Q7-1", "Q9WUR9-1", "Q9R0Y5-1", "Q920P5-1", "Q32M07-1", "Q9D2H2-2", "Q9DBP5-1", "P15532-1", "Q9QXL8-1", "Q9WV84-1", "Q9WV85-1", "O88425-1", "Q01768-1", "P36010-1", "Q54CG9-1", "P22887-1", "P34093-1", "P08879-1", "Q9VA43-1" ], "evidence": [ { "id": "18113", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/18113" } ] }, { "id": "25098", "name": "", "equation": "ATP + UDP = ADP + UTP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P39069-1", "P00568-1", "Q9R0Y5-1" ], "evidence": [ { "id": "25098", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/25098" } ] }, { "id": "27682", "name": "", "equation": "ATP + dTDP = ADP + dTTP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P39069-1", "P00568-1", "Q9R0Y5-1" ], "evidence": [ { "id": "27682", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/27682" } ] }, { "id": "27686", "name": "", "equation": "ATP + GDP = ADP + GTP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P39069-1", "P00568-1", "Q9R0Y5-1" ], "evidence": [ { "id": "27686", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/27686" } ] }, { "id": "27690", "name": "", "equation": "ATP + dGDP = ADP + dGTP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P39069-1", "P00568-1", "Q9R0Y5-1" ], "evidence": [ { "id": "27690", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/27690" } ] }, { "id": "44640", "name": "", "equation": "a 2'-deoxyribonucleoside 5'-diphosphate + ATP = a 2'-deoxyribonucleoside 5'-triphosphate + ADP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q05982-1", "Q9QXL7-1", "O88426-1", "Q68FP8-1", "Q4KM73-1", "P19804-1", "Q9WUS0-1", "Q9Z2M4-1", "G3V816-1", "P39069-1", "A0A8I6A4T4-1", "A0A8I6AII3-1", "Q13232-1", "O00746-1", "P22392-1", "O75414-1", "Q5EBM0-1", "Q5TCS8-4", "P27144-1", "P30085-1", "Q9Y6K8-1", "P00568-1", "Q96MA6-1", "Q96M32-1", "Q9Y5B8-1", "P15531-1", "O60361-1", "A0A8I5KW96-1", "Q9WV84-1", "Q3U5Q7-1", "Q9WUR9-1", "Q9R0Y5-1", "Q920P5-1", "Q32M07-1", "Q9D2H2-2", "Q9DBP5-1", "P15532-1", "Q9QXL8-1", "Q9WV85-1", "O88425-1", "Q01768-1", "P36010-1", "Q54CG9-1", "P22887-1", "P34093-1", "P08879-1", "Q9VY27-1", "Q9VA43-1" ], "evidence": [ { "id": "44640", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/44640" } ] }, { "id": "69180", "name": "", "equation": "ADP + thiamine diphosphate = AMP + thiamine triphosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P39069-1", "P00568-1", "Q9R0Y5-1" ], "evidence": [ { "id": "69180", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/69180" } ] }, { "id": "R-HSA-110141", "name": "(d)ADP + ADP <=> (d)AMP + ATP (AK1)", "equation": "", "summary": "Cytosolic adenylate kinase 1 (AK1) catalyzes the reversible reactions of ADP and dADP with ADP to form AMP and dAMP respectively, plus ATP (Tsuboi 1978; Matsuura et al. 1989).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00568-1", "P30085-1" ], "evidence": [ { "id": "R-HSA-110141", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110141" } ] }, { "id": "R-HSA-73548", "name": "(d)CMP or UMP + ATP <=> (d)CDP or UDP + ADP (CMPK1)", "equation": "", "summary": "Cytosolic UMP-CMP kinase (CMPK1) catalyzes the reversible reaction of CMP, dCMP, or UMP and ATP to form CDP, dCDP, or UDP and ADP (Liou et al. 2002; Scott and Wright 1979).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00568-1", "P30085-1" ], "evidence": [ { "id": "R-HSA-73548", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73548" } ] }, { "id": "R-HSA-74220", "name": "(d)AMP + ATP <=> (d)ADP + ADP (AK1)", "equation": "", "summary": "Cytosolic adenylate kinase 1 (AK1) catalyzes the reversible reactions of AMP and dAMP with ATP to form ADP and dADP respectively, plus ADP (Tsuboi 1978; Matsuura et al. 1989).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00568-1", "P30085-1" ], "evidence": [ { "id": "R-HSA-74220", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74220" } ] }, { "id": "R-HSA-75125", "name": "(d)CDP or UDP + ADP <=> (d)CMP or UMP + ATP (CMPK1)", "equation": "", "summary": "Cytosolic UMP-CMP kinase (CMPK1) catalyzes the reversible reaction of CDP, dCDP, or UDP and ADP to form CMP, dCMP, or UMP and ATP (Liou et al. 2002; Scott and Wright 1979).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00568-1", "P30085-1" ], "evidence": [ { "id": "R-HSA-75125", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75125" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A0A8I5KW96", "gene_name": "AK4P3", "activity": [ { "ec_number": "2.7.4.10", "activity": "a ribonucleoside 5'-triphosphate + AMP = a ribonucleoside 5'-diphosphate + ADP.", "evidence": [ { "id": "A0A8I5KW96", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I5KW96" } ] }, { "ec_number": "2.7.4.6", "activity": "a ribonucleoside 5'-diphosphate + ATP = a ribonucleoside 5'-triphosphate + ADP.", "evidence": [ { "id": "A0A8I5KW96", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I5KW96" } ] }, { "ec_number": "2.7.4.6", "activity": "", "evidence": [ { "id": "A0A8I5KW96", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I5KW96" } ] }, { "ec_number": "2.7.4.10", "activity": "", "evidence": [ { "id": "A0A8I5KW96", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I5KW96" } ] } ] }, { "uniprot_ac": "A0A8I5ZQQ9", "gene_name": "RGD1562178", "activity": [ { "ec_number": "2.7.4.3", "activity": "AMP + ATP = 2 ADP.", "evidence": [ { "id": "A0A8I5ZQQ9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I5ZQQ9" } ] }, { "ec_number": "2.7.4.3", "activity": "", "evidence": [ { "id": "A0A8I5ZQQ9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I5ZQQ9" } ] } ] }, { "uniprot_ac": "A0A8I6A4T4", "gene_name": "Nme2-ps1", "activity": [ { "ec_number": "2.7.4.6", "activity": "a ribonucleoside 5'-diphosphate + ATP = a ribonucleoside 5'-triphosphate + ADP.", "evidence": [ { "id": "A0A8I6A4T4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6A4T4" } ] }, { "ec_number": "2.7.4.6", "activity": "", "evidence": [ { "id": "A0A8I6A4T4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6A4T4" } ] } ] }, { "uniprot_ac": "A0A8I6AII3", "gene_name": "ENSRNOG00000062879", "activity": [ { "ec_number": "2.7.4.6", "activity": "a ribonucleoside 5'-diphosphate + ATP = a ribonucleoside 5'-triphosphate + ADP.", "evidence": [ { "id": "A0A8I6AII3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6AII3" } ] }, { "ec_number": "2.7.4.6", "activity": "", "evidence": [ { "id": "A0A8I6AII3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6AII3" } ] } ] }, { "uniprot_ac": "G3V816", "gene_name": "Nme3", "activity": [ { "ec_number": "2.7.4.6", "activity": "a ribonucleoside 5'-diphosphate + ATP = a ribonucleoside 5'-triphosphate + ADP.", "evidence": [ { "id": "G3V816", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/G3V816" } ] }, { "ec_number": "2.7.4.6", "activity": "", "evidence": [ { "id": "G3V816", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/G3V816" } ] } ] }, { 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