{ "uniprot_canonical_ac": "P05062-1", "uniprot_ac": "P05062", "uniprot_id": "ALDOB_HUMAN", "mass": { "chemical_mass": 39473.0, "monoisotopic_mass": 39473.0 }, "refseq": { "ac": "NP_000026", "name": "fructose-bisphosphate aldolase B", "summary": "Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq, Dec 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000026" }, "gene_names": [ { "name": "ALDOB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05062", "id": "P05062" }, { "name": "ALDB; ALDO2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000026", "id": "NP_000026" }, { "name": "ALDB", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05062", "id": "P05062" }, { "name": "ALDOB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000026", "id": "NP_000026" } ], "protein_names": [ { "name": "Fructose-bisphosphate aldolase B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P05062" }, { "name": "4.1.2.13", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05062" }, { "name": "Liver-type aldolase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05062" }, { "name": "aldolase 2; aldolase B, fructose-bisphosphatase; liver-type aldolase; aldolase B, fructose-bisphosphate", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000026", "id": "NP_000026" }, { "name": "fructose-bisphosphate aldolase B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000026", "id": "NP_000026" } ], "function": [ { "annotation": "Aldolase B suppresses hepatocellular carcinogenesis by inhibiting G6PD and pentose phosphate pathways.", "evidence": [ { "database": "RefSeq", "id": "NP_000026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000026" }, { "database": "PubMed", "id": "35122041", "url": "https://glygen.org/publication/PubMed/35122041" } ] }, { "annotation": "Aldolase B-driven lactagenesis and CEACAM6 activation promote cell renewal and chemoresistance in colorectal cancer through the Warburg effect. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000026" }, { "database": "PubMed", "id": "37816733", "url": "https://glygen.org/publication/PubMed/37816733" } ] }, { "annotation": "Catalyzes the aldol cleavage of fructose 1,6-biphosphate to form two triosephosphates dihydroxyacetone phosphate and D-glyceraldehyde 3-phosphate in glycolysis as well as the reverse stereospecific aldol addition reaction in gluconeogenesis. In fructolysis, metabolizes fructose 1-phosphate derived from the phosphorylation of dietary fructose by fructokinase into dihydroxyacetone phosphate and D-glyceraldehyde (PubMed:10970798, PubMed:12205126, PubMed:20848650). Acts as an adapter independently of its enzymatic activity, exerts a tumor suppressor role by stabilizing the ternary complex with G6PD and TP53 to inhibit G6PD activity and keep oxidative pentose phosphate metabolism in check (PubMed:35122041).", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062#function" }, { "database": "PubMed", "id": "20848650", "url": "https://glygen.org/publication/PubMed/20848650" }, { "database": "PubMed", "id": "12205126", "url": "https://glygen.org/publication/PubMed/12205126" }, { "database": "PubMed", "id": "10970798", "url": "https://glygen.org/publication/PubMed/10970798" }, { "database": "PubMed", "id": "35122041", "url": "https://glygen.org/publication/PubMed/35122041" } ] }, { "annotation": "Downregulation of aldolase B and accumulation of fructose 1,6-bisphosphate promote clear cell renal cell carcinoma growth by counteracting oxidative stress", "evidence": [ { "database": "RefSeq", "id": "NP_000026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000026" }, { "database": "PubMed", "id": "30760861", "url": "https://glygen.org/publication/PubMed/30760861" } ] }, { "annotation": "Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq, Dec 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000026" } ] }, { "annotation": "High ALDOB expression impairs DNA mismatch repair and induces apoptosis in colon adenocarcinoma", "evidence": [ { "database": "RefSeq", "id": "NP_000026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000026" }, { "database": "PubMed", "id": "31564566", "url": "https://glygen.org/publication/PubMed/31564566" } ] }, { "annotation": "Metabolic classification suggests the GLUT1/ALDOB/G6PD axis as a therapeutic target in chemotherapy-resistant pancreatic cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_000026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000026" }, { "database": "PubMed", "id": "37597521", "url": "https://glygen.org/publication/PubMed/37597521" } ] } ], "disease": [ { "disease_id": "DOID:9869", "recommended_name": { "id": "DOID:9869", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9869", "name": "hereditary fructose intolerance syndrome", "description": "A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31." }, "synonyms": [ { "id": "DOID:9869", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9869", "name": "Fructosaemia", "description": "" }, { "id": "DOID:9869", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9869", "name": "Fructose-1,6-bisphosphate aldolase B deficiency", "description": "" }, { "id": "DOID:9869", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9869", "name": "Fructosemia", "description": "" }, { "id": "MONDO:0009249", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009249", "name": "hereditary fructose intolerance", "description": "Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated." }, { "id": "MONDO:0009249", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009249", "name": "Fructosaemia", "description": "" }, { "id": "MONDO:0009249", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009249", "name": "fructose intolerance", "description": "" }, { "id": "MONDO:0009249", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009249", "name": "fructose-1,6-bisphosphate aldolase B deficiency", "description": "" }, { "id": "MONDO:0009249", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009249", "name": "fructosemia", "description": "" }, { "id": "MONDO:0009249", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009249", "name": "hereditary fructose intolerance", "description": "" }, { "id": "MONDO:0009249", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009249", "name": "hereditary fructose intolerance syndrome", "description": "" }, { "id": "MONDO:0009249", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009249", "name": "hereditary fructose-1-phosphate aldolase deficiency", "description": "" }, { "id": "MONDO:0009249", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009249", "name": "hereditary fructosemia", "description": "" }, { "id": "MONDO:0009249", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009249", "name": "Aldob deficiency", "description": "" }, { "id": "MONDO:0009249", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009249", "name": "aldolase B deficiency", "description": "" }, { "id": "MONDO:0009249", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009249", "name": "fructose intolerance, hereditary", "description": "" }, { "id": "MONDO:0009249", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009249", "name": "fructose-1-phosphate aldolase deficiency", "description": "" }, { "id": "MIM:229600", "resource": "MIM", "url": "https://www.omim.org/entry/229600", "name": "Hereditary fructose intolerance", "description": "Hereditary fructose intolerance" } ], "evidence": [ { "id": "229600", "database": "MIM", "url": "https://www.omim.org/entry/229600" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 108, "end_pos": 108, "sequence_org": "K", "sequence_mut": "A", "comment": "Decreases enzymatic activity. Retains the ability to interact with G6PD.", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" }, { "database": "PubMed", "id": "35122041", "url": "https://glygen.org/publication/PubMed/35122041" } ] }, { "start_pos": 147, "end_pos": 147, "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of enzymatic activity. Impairs the interaction with G6PD.", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" }, { "database": "PubMed", "id": "35122041", "url": "https://glygen.org/publication/PubMed/35122041" } ] }, { "start_pos": 149, "end_pos": 149, "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of enzymatic activity. Impairs the interaction with G6PD.", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" }, { "database": "PubMed", "id": "35122041", "url": "https://glygen.org/publication/PubMed/35122041" } ] }, { "start_pos": 230, "end_pos": 230, "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of enzymatic activity. Impairs the interaction with G6PD.", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" }, { "database": "PubMed", "id": "35122041", "url": "https://glygen.org/publication/PubMed/35122041" } ] }, { "start_pos": 304, "end_pos": 304, "sequence_org": "R", "sequence_mut": "A", "comment": "Decreases enzymatic activity. Impairs the interaction with G6PD.", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" }, { "database": "PubMed", "id": "35122041", "url": "https://glygen.org/publication/PubMed/35122041" } ] }, { "start_pos": 43, "end_pos": 43, "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of enzymatic activity. Retains the ability to interact with G6PD.", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" }, { "database": "PubMed", "id": "35122041", "url": "https://glygen.org/publication/PubMed/35122041" } ] }, { "start_pos": 46, "end_pos": 46, "sequence_org": "R", "sequence_mut": "A", "comment": "Decreases enzymatic activity. Retains the ability to interact with G6PD.", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" }, { "database": "PubMed", "id": "35122041", "url": "https://glygen.org/publication/PubMed/35122041" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "99.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136872", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136872" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "53.14", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000136872", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136872" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "77.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136872", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136872" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "69.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136872", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136872" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "72.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136872", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136872" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "73.71", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136872", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136872" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "58.25", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136872", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136872" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "57.61", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136872", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136872" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "53.06", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000136872", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136872" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "56.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000136872", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136872" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "99.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136872", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136872" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "59.12", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136872", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136872" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "59.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136872", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136872" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P05062", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05062" } ], "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", 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"" }, { "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, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "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": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "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 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"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, 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"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 - 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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", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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", 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P05062", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05062" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P05062", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05062" } ], "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": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "common_name": "Human" } ], "gene": [ { "name": "ALDOB", "url": "https://www.uniprot.org/uniprot/P05062", "locus": { "chromosome": "9", "start_pos": 101420560, "end_pos": 101449664, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000136872", "url": "https://www.ensembl.org/id/ENSG00000136872" } ] } } ], "crossref": [ { "id": "ENSG00000136872", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136872", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "4.1.2.13", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=4.1.2.13&UniProtAcc=P05062", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd00948", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00948", 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"Pfam", "categories": [ "Protein Classification" ] }, { "id": "P05062", "url": "https://pharos.nih.gov/targets/P05062", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P05062", "url": "http://purl.obolibrary.org/obo/PR_P05062", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-5657560", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5657560", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-70350", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70350", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000026", "url": 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] }, { "id": "P05062-1", "url": "https://www.uniprot.org/uniprot/P05062-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAHRFPALTQEQKKELSEIAQSIVANGKGILAADESVGTMGNRLQRIKVENTEENRRQFREILFSVDSSINQSIGGVILFHETLYQKDSQGKLFRNILKEKGIVVGIKLDQGGAPLAGTNKETTIQGLDGLSERCAQYKKDGVDFGKWRAVLRIADQCPSSLAIQENANALARYASICQQNGLVPIVEPEVIPDGDHDLEHCQYVTEKVLAAVYKALNDHHVYLEGTLLKPNMVTAGHACTKKYTPEQVAMATVTALHRTVPAAVPGICFLSGGMSEEDATLNLNAINLCPLPKPWKLSFSYGRALQASALAAWGGKAANKEATQEAFMKRAMANCQAAKGQYVHTGSSGAASTQSLFTACYTY", "length": 364, "header": "sp|P05062-1|ALDOB_HUMAN Isoform 1 of Fructose-bisphosphate aldolase B OS=Homo sapiens OX=9606 GN=ALDOB PE=1 SV=2 CANONICAL=P05062-1" }, "isoforms": [ { "isoform_ac": "A0A3B3IS80-1", "url": "", "sequence": { "sequence": "MAHRFPALTQEQKKELSEIAQSIVANGKGILAADESVGTMGNRLQRIKVENTEENRRQFREILFSVDSSINQSIGGVILFHETLYQKDSQGKLFRNILKEKGIVVGIKLDQGGAPLAGTNKETTIQGLDGLSERCAQYKKDGVDFGKWRAVLRIADQCPSSLAIQENANALARYASICQQNGLVPIVEPEVIPDGDHDLEHCQYVTEKVLAAVYKALNDHHVYLEGTLLKPNMVTAGHACTKKYTPEQVAMATVTALHRTVPAAVPGICFLSGGMSEEDATLNLNAINLCPLPKPWKLSFSYGRALQASALAAWGGKAANKEATQEAFMKRAMVRCCHLLST", "length": 342, "header": "tr|A0A3B3IS80-1|A0A3B3IS80_HUMAN Computationally mapped isoform of Fructose-bisphosphate aldolase OS=Homo sapiens OX=9606 GN=ALDOB PE=1 SV=1 CANONICAL=P05062-1" }, "locus": { "chromosome": "9", "start_pos": 101430887, "end_pos": 101424816, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000649902.1", "url": "https://www.ensembl.org/id/ENST00000649902.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497216.1", "url": "https://www.ensembl.org/id/ENSP00000497216.1" } ] } }, { "isoform_ac": "A0A3B3ITZ0-1", "url": "", "sequence": { "sequence": "MAHRFPALTQEQKKELSEIAQSIVANGKGILAADESVGTMGNRLQRIKVENTEENRRQFREILFSVDSSINQSIG", "length": 75, "header": "tr|A0A3B3ITZ0-1|A0A3B3ITZ0_HUMAN Computationally mapped isoform of Fructose-bisphosphate aldolase B OS=Homo sapiens OX=9606 GN=ALDOB PE=1 SV=1 CANONICAL=P05062-1" }, "locus": { "chromosome": "9", "start_pos": 101430887, "end_pos": 101429854, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000648423.1", "url": "https://www.ensembl.org/id/ENST00000648423.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497985.1", "url": "https://www.ensembl.org/id/ENSP00000497985.1" } ] } }, { "isoform_ac": "P05062-1", "url": "", "sequence": { "sequence": "MAHRFPALTQEQKKELSEIAQSIVANGKGILAADESVGTMGNRLQRIKVENTEENRRQFREILFSVDSSINQSIGGVILFHETLYQKDSQGKLFRNILKEKGIVVGIKLDQGGAPLAGTNKETTIQGLDGLSERCAQYKKDGVDFGKWRAVLRIADQCPSSLAIQENANALARYASICQQNGLVPIVEPEVIPDGDHDLEHCQYVTEKVLAAVYKALNDHHVYLEGTLLKPNMVTAGHACTKKYTPEQVAMATVTALHRTVPAAVPGICFLSGGMSEEDATLNLNAINLCPLPKPWKLSFSYGRALQASALAAWGGKAANKEATQEAFMKRAMANCQAAKGQYVHTGSSGAASTQSLFTACYTY", "length": 364, "header": "sp|P05062-1|ALDOB_HUMAN Isoform 1 of Fructose-bisphosphate aldolase B OS=Homo sapiens OX=9606 GN=ALDOB PE=1 SV=2 CANONICAL=P05062-1" }, "locus": { "chromosome": "9", "start_pos": 101430887, "end_pos": 101421812, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000647789.2", "url": "https://www.ensembl.org/id/ENST00000647789.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000497767.1", "url": "https://www.ensembl.org/id/ENSP00000497767.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P05062", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05062" }, { "id": "26374642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26374642" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" } ] } ], "phosphorylation": [ { "start_pos": 119, "end_pos": 119, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P05062", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05062" } ], "site_lbl": "Thr119" }, { "start_pos": 123, "end_pos": 123, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05062", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05062" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Thr123" }, { "start_pos": 124, "end_pos": 124, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05062", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05062" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Thr124" }, { "start_pos": 132, "end_pos": 132, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P05062", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05062" } ], "site_lbl": "Ser132" }, { "start_pos": 272, "end_pos": 272, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P05062", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05062" } ], "site_lbl": "Ser272" }, { "start_pos": 276, "end_pos": 276, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P05062", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05062" } ], "site_lbl": "Ser276" }, { "start_pos": 299, "end_pos": 299, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "site_lbl": "Ser299" }, { "start_pos": 301, "end_pos": 301, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "site_lbl": "Ser301" }, { "start_pos": 309, "end_pos": 309, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P05062", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05062" } ], "site_lbl": "Ser309" }, { "start_pos": 36, "end_pos": 36, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P05062", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05062" }, { "database": "PubMed", "id": "19562805", "url": "https://glygen.org/publication/PubMed/19562805" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser36" }, { "start_pos": 39, "end_pos": 39, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P05062", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05062" }, { "database": "PubMed", "id": "19562805", "url": "https://glygen.org/publication/PubMed/19562805" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Thr39" }, { "start_pos": 89, "end_pos": 89, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P05062", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05062" } ], "site_lbl": "Ser89" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Screening for hereditary fructose intolerance mutations by reverse dot-blot.", "journal": "Molecular and cellular probes", "date": "1999", "authors": "Lau J, Tolan DR", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "reference": [ { "type": "PubMed", "id": "10024431", "url": "https://glygen.org/publication/PubMed/10024431" } ] }, { "title": "Structure, function and regulation of pyruvate carboxylase.", "journal": "The Biochemical journal", "date": "1999", "authors": "Jitrapakdee S, Wallace JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10229653", "url": "https://glygen.org/publication/PubMed/10229653" } ] }, { "title": "The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.", "journal": "Nature genetics", "date": "1999", "authors": "Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10369257", "url": "https://glygen.org/publication/PubMed/10369257" } ] }, { "title": "Organization and sequence of the gene for the human mitochondrial dicarboxylate carrier: evolution of the carrier family.", "journal": "The Biochemical journal", "date": "1999", "authors": "Fiermonte G, Dolce V, Arrigoni R, Runswick MJ, Walker JE, Palmieri F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10585886", "url": "https://glygen.org/publication/PubMed/10585886" } ] }, { "title": "Expression, purification, and characterization of natural mutants of human aldolase B. 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"MAHRFPALTPEQKKELSEIAQRIVANGKGILAADESVGTMGNRLQRIKVENTEENRRQFRELLFSVDNSISQSIGGVILFHETLYQKDSQGNLFRNVLKEKGIVVGIKLDQGGAPLAGTNKETTIQGLDGLSERCAQYKKDGVDFGKWRAVLRIADQCPSSLAIQENANALARYASICQQNGLVPIVEPEVLPDGDHDLEHCQYVSEKVLAAVYKALNDHHVYLEGTLLKPNMVTAGHACTKKYTPEQVAMATVTALHRTVPAAVPGICFLSGGMSEEDATLNLNAINRCPLPRPWKLSFSYGRALQASALAAWGGKAANKKATQEAFMKRAMANCQAAQGQYVHTGSSGAAATQSLFTASYTY", "length": 364 }, "evidence": [ { "id": "45917952", "url": "http://www.informatics.jax.org/homology/45917952", "database": "MGI" }, { "id": "P05062", "url": "https://omabrowser.org/oma/group/P05062/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "pmid": "" }, { "name": "fructose-bisphosphate aldolase activity", "id": "GO:0004332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004332", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "pmid": "" }, { "name": "fructose-1-phosphate aldolase activity", "id": "GO:0061609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061609", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "pmid": "" }, { "name": "fructose binding", "id": "GO:0070061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070061", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "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": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "pmid": "" }, { "name": "microtubule organizing center", "id": "GO:0005815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005815", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 9, "go_terms": [ { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "pmid": "" }, { "name": "fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate", "id": "GO:0061624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061624", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "pmid": "" }, { "name": "fructose metabolic process", "id": "GO:0006000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006000", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "pmid": "" }, { "name": "glycolytic process", "id": "GO:0006096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006096", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "pmid": "" }, { "name": "NADH oxidation", "id": "GO:0006116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006116", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "pmid": "" }, { "name": "fructose 1,6-bisphosphate metabolic process", "id": "GO:0030388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030388", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "pmid": "" }, { "name": "positive regulation of ATP-dependent activity", "id": "GO:0032781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032781", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "pmid": "" }, { "name": "vacuolar proton-transporting V-type ATPase complex assembly", "id": "GO:0070072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070072", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "pmid": "" }, { "name": "negative regulation of pentose-phosphate shunt", "id": "GO:1905856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905856", "evidence": [ { "database": "UniProtKB", "id": "P05062", "url": "https://www.uniprot.org/uniprot/P05062" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 71, "end_pos": 73, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "14729", "name": "", "equation": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P09117-1", "P05065-1", "P00884-1", "Q6AY07-1", "A0A8I6ANB6-1", "P04075-1", "P09972-1", "P05062-1", "A6ZI46-1", "P05064-1", "P05063-1", "Q91Y97-1", "A6ZI47-1", "P14540-1", "Q86A67-1", "P07764-1" ], "evidence": [ { "id": "14729", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/14729" } ] }, { "id": "30851", "name": "", "equation": "beta-D-fructose 1-phosphate = D-glyceraldehyde + dihydroxyacetone phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00884-1", "P05062-1", "Q91Y97-1" ], "evidence": [ { "id": "30851", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/30851" } ] }, { "id": "R-HSA-5656438", "name": "Defective ALDOB does not cleave Fru 1-P to GA and DHAP", "equation": "", "summary": "Mutations in ALDOB that cause deficiency of aldolase B block the cleavage of fructose 1-phosphate (Fru 1-P) to glyceraldehyde (GA) and dihydroxyacetone phosphate (DHAP) and cause hereditary fructose intolerance (HFI). The links between the enzyme deficiency and pathology are unclear at present, but may involve depletion of the cellular phosphate pool and increased levels of Fru 1-P (Oberhaensli et al, 1987; Bouteldja & Timson, 2010). Affected individuals can develop severe hypoglycemia, lactic acidosis, and other metabolic abnormalities when fed fructose; the disease can be effectively managed by complete exclusion of fructose from the diet. A large number of ALDOB variants have been described in affected individuals (e.g. Tolan 1995); the two missense mutant alleles annotated here are the most common (53% of those with HFI have one of these alleles) (Cross et al. 1988; Cross et al. 1990; Coffee et al. 2010), and encode full length aldolase B proteins whose catalytic activity is sharply reduced due to considerable loss of stability (Malay et al., 2002; Malay et al. 2005; Rellos et al., 2000 - see also PDB structures 1XDL and 1XDM). Other less common variants, not annotated here, retain activities and thermal stabilities similar to the wild-type (Esposito et al, 2010). The physiological role of aldolase B has been established from metabolic and DNA sequencing studies of patients with HFI (Ali et al. 1998) and in a mouse model for this disease (Oppelt et al. 2015).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P05062-1" ], "evidence": [ { "id": "R-HSA-5656438", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5656438" } ] }, { "id": "R-HSA-70342", "name": "ALDOB tetramer cleaves Fru-1-P to GA and DHAP", "equation": "", "summary": "Cytosolic aldolase B (ALDOB) catalyzes the reaction of D-fructose 1-phosphate (Fru 1-P) to form dihydroxyacetone phosphate (DHAP) and D-glyceraldehyde (GA) (Hers & Kusaka 1953; Schapira 1975). The active form of the enzyme is a tetramer (Dalby et al. 2001). Deficiencies in the enzyme are associated with hereditary fructose intolerance in vivo (e.g., Tolan 1995; Ali et al. 1998).
ALDOB is the same aldolase isoform that catalyzes the reversible cleavage of fructose-1,6-bisphosphate in glycolysis. This isoform, found in liver, kidney, and intestine, is approximately equally active with fructose 1 phosphate and fructose 1,6 bisphosphate as substrates at saturating concentrations, while the muscle and brain isoforms (ALDOA and ALDOC, respectively), have little activity with fructose-1-phosphate (Lebherz & Rutter 1969; Penhoet et el. 1969).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-9832976" ], "output_participant_list": [], "enzyme_list": [ "P05062-1" ], "evidence": [ { "id": "R-HSA-70342", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70342" } ] }, { "id": "R-HSA-71495", "name": "Aldolase tetramers convert GA3P and DHAP to F1,6PP", "equation": "", "summary": "In this freely reversible cytosolic reaction, DHAP (dihydroxyacetone phosphate) and GA3P (D-glyceraldehyde 3-phosphate) react to form F1,6PP (D-fructose 1,6-bisphosphate). The active form of aldolase, the enzyme that catalyzes the reaction, is a homotetramer. Three aldolase isozymes have been identified which differ in their patterns of expression in various adult tissues and during development but are otherwise functionally indistinguishable (Ali and Cox 1995; Dunbar and Fothergill-Gilmore 1988).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P04075-1", "P05062-1", "P09972-1" ], "evidence": [ { "id": "R-HSA-71495", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71495" } ] }, { "id": "R-HSA-71496", "name": "D-fructose 1,6-bisphosphate <=> dihydroxyacetone phosphate + D-glyceraldehyde 3-phosphate", "equation": "", "summary": "Cytosolic aldolase catalyzes the cleavage of D-fructose 1,6-bisphosphate to yield dihydroxyacetone phosphate and D-glyceraldehyde 3-phosphate. The active form of aldolase is a homotetramer. Three aldolase isozymes have been identified which differ in their patterns of expression in various adult tissues and during development but are otherwise functionally indistinguishable (Ali and Cox 1995; Freemont et al. 1984, 1988).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-30014" ], "output_participant_list": [ "R-ALL-75970" ], "enzyme_list": [ "P04075-1", "P05062-1", "P09972-1" ], "evidence": [ { "id": "R-HSA-71496", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71496" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-30014", "participant_name": "F1,6PP [cytosol]", "crossref": [ { "id": "32966", "database": "ChEBI", "url": "" }, { "id": "C00354", "database": "COMPOUND", "url": "" }, { "id": "000004096694", "database": "ZINC", "url": "" }, { "id": "C00354", "database": "COMPOUND", "url": "" }, { "id": "32966", "database": "ChEBI", "url": "" }, { "id": "000004096694", "database": "ZINC", "url": "" }, { "id": "C00354", "database": "COMPOUND", "url": "" }, { "id": "000004096694", "database": "ZINC", "url": "" }, { "id": "32966", "database": "ChEBI", "url": "" }, { "id": "C00354", "database": "COMPOUND", "url": "" }, { "id": "32966", "database": "ChEBI", "url": "" }, { "id": "000004096694", "database": "ZINC", "url": "" }, { "id": "C00354", "database": "COMPOUND", "url": "" }, { "id": "32966", "database": "ChEBI", "url": "" }, { "id": "000004096694", "database": "ZINC", "url": "" }, { "id": "C00354", "database": "COMPOUND", "url": "" }, { "id": "32966", "database": "ChEBI", "url": "" }, { "id": "000004096694", "database": "ZINC", "url": "" }, { "id": "32966", "database": "ChEBI", "url": "" }, { "id": "000004096694", "database": "ZINC", "url": "" }, { "id": "C00354", "database": "COMPOUND", "url": "" } ] }, { "participant_id": "R-ALL-75970", "participant_name": "DHAP [cytosol]", "crossref": [ { "id": "000024492326", "database": "ZINC", "url": "" }, { "id": "C00111", "database": "COMPOUND", "url": "" }, { "id": "57642", "database": "ChEBI", "url": "" }, { "id": "57642", "database": "ChEBI", "url": "" }, { "id": "C00111", "database": "COMPOUND", "url": "" }, { "id": "000024492326", "database": "ZINC", "url": "" }, { "id": "C00111", "database": "COMPOUND", "url": "" }, { "id": "57642", "database": "ChEBI", "url": "" }, { "id": "000024492326", "database": "ZINC", "url": "" }, { "id": "C00111", "database": "COMPOUND", "url": "" }, { "id": "57642", "database": "ChEBI", "url": "" }, { "id": "000024492326", "database": "ZINC", "url": "" }, { "id": "C00111", "database": "COMPOUND", "url": "" }, { "id": "57642", "database": "ChEBI", "url": "" }, { "id": "000024492326", "database": "ZINC", "url": "" }, { "id": "C00111", "database": "COMPOUND", "url": "" }, { "id": "57642", "database": "ChEBI", "url": "" }, { "id": "000024492326", "database": "ZINC", "url": "" }, { "id": "C00111", "database": "COMPOUND", "url": "" }, { "id": "57642", "database": "ChEBI", "url": "" }, { "id": "000024492326", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-9832976", "participant_name": "beta-D-Fru 1-P [cytosol]", "crossref": [ { "id": "138881", "database": "ChEBI", "url": "" }, { "id": "138881", "database": "ChEBI", "url": "" }, { "id": "138881", "database": "ChEBI", "url": "" }, { "id": "138881", "database": "ChEBI", "url": "" }, { "id": "138881", "database": "ChEBI", "url": "" }, { "id": "138881", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "A0A8I6ANB6", "gene_name": "ENSRNOG00000063843", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "A0A8I6ANB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6ANB6" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "A0A8I6ANB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6ANB6" } ] } ] }, { "uniprot_ac": "A6ZI46", "gene_name": "Aldoart1", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "A6ZI46", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6ZI46" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "A6ZI46", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6ZI46" } ] } ] }, { "uniprot_ac": "A6ZI47", "gene_name": "Aldoart2", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "A6ZI47", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6ZI47" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "A6ZI47", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6ZI47" } ] } ] }, { "uniprot_ac": "P00884", "gene_name": "Aldob", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P00884", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00884" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P00884", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00884" } ] } ] }, { "uniprot_ac": "P04075", "gene_name": "ALDOA", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P04075", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04075" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P04075", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04075" } ] } ] }, { "uniprot_ac": "P05062", "gene_name": "ALDOB", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P05062", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05062" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P05062", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05062" } ] } ] }, { "uniprot_ac": "P05063", "gene_name": "Aldoc", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P05063", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05063" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P05063", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05063" } ] } ] }, { "uniprot_ac": "P05064", "gene_name": "Aldoa", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P05064", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05064" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P05064", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05064" } ] } ] }, { "uniprot_ac": "P05065", "gene_name": "Aldoa", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P05065", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05065" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P05065", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05065" } ] } ] }, { "uniprot_ac": "P07764", "gene_name": "Ald1", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { 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