{ "uniprot_canonical_ac": "P09972-1", "uniprot_ac": "P09972", "uniprot_id": "ALDOC_HUMAN", "mass": { "chemical_mass": 39456.0, "monoisotopic_mass": 39456.0 }, "refseq": { "ac": "NP_005156", "name": "fructose-bisphosphate aldolase C", "summary": "This gene encodes a member of the class I fructose-biphosphate aldolase gene family. Expressed specifically in the hippocampus and Purkinje cells of the brain, the encoded protein is a glycolytic enzyme that catalyzes the reversible aldol cleavage of fructose-1,6-biphosphate and fructose 1-phosphate to dihydroxyacetone phosphate and either glyceraldehyde-3-phosphate or glyceraldehyde, respectively. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005156" }, "gene_names": [ { "name": "ALDOC", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P09972", "id": "P09972" }, { "name": "ALDC", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005156", "id": "NP_005156" }, { "name": "ALDC", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P09972", "id": "P09972" }, { "name": "ALDOC", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005156", "id": "NP_005156" } ], "protein_names": [ { "name": "Fructose-bisphosphate aldolase C", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P09972" }, { "name": "4.1.2.13", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09972" }, { "name": "Brain-type aldolase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09972" }, { "name": "fructoaldolase C; aldolase 3; brain-type aldolase; fructose-1,6-biphosphate triosephosphate lyase; aldolase C, fructose-bisphosphate; epididymis secretory sperm binding protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005156", "id": "NP_005156" }, { "name": "fructose-bisphosphate aldolase C", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005156", "id": "NP_005156" } ], "function": [ { "annotation": "ALDOC regulated the biological function and immune infiltration of gastric cancer cells.", "evidence": [ { "database": "RefSeq", "id": "NP_005156", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005156" }, { "database": "PubMed", "id": "36997056", "url": "https://glygen.org/publication/PubMed/36997056" } ] }, { "annotation": "ALDOC- and ENO2- driven glucose metabolism sustains 3D tumor spheroids growth regardless of nutrient environmental conditions: a multi-omics analysis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005156", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005156" }, { "database": "PubMed", "id": "36945054", "url": "https://glygen.org/publication/PubMed/36945054" } ] }, { "annotation": "Overexpression of aldolase, fructose-bisphosphate C and its association with spheroid formation in colorectal cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_005156", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005156" }, { "database": "PubMed", "id": "35147255", "url": "https://glygen.org/publication/PubMed/35147255" } ] }, { "annotation": "This gene encodes a member of the class I fructose-biphosphate aldolase gene family. Expressed specifically in the hippocampus and Purkinje cells of the brain, the encoded protein is a glycolytic enzyme that catalyzes the reversible aldol cleavage of fructose-1,6-biphosphate and fructose 1-phosphate to dihydroxyacetone phosphate and either glyceraldehyde-3-phosphate or glyceraldehyde, respectively. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_005156", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005156" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "79.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000109107", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109107" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "80.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000109107", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109107" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "79.14", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000109107", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109107" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "74.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000109107", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109107" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "94.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109107", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109107" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "86.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109107", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109107" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "65.58", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000109107", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109107" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "82.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000109107", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109107" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "78.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000109107", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109107" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "64.61", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000109107", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109107" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "91.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109107", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109107" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109107", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109107" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "87.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109107", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109107" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P09972", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09972" } ], "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, 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 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", 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"MPHSYPALSAEQKKELSDIALRIVAPGKGILAADESVGSMAKRLSQIGVENTEENRRLYRQVLFSADDRVKKCIGGVIFFHETLYQKDDNGVPFVRTIQDKGIVVGIKVDKGVVPLAGTDGETTTQGLDGLSERCAQYKKDGADFAKWR", "length": 149, "header": "tr|C9J8F3-1|ALDOC_HUMAN Computationally mapped isoform of Fructose-bisphosphate aldolase C OS=Homo sapiens OX=9606 GN=ALDOC PE=1 SV=1 CANONICAL=P09972-1" }, "locus": { "chromosome": "17", "start_pos": 28575532, "end_pos": 28574789, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000435638.5", "url": "https://www.ensembl.org/id/ENST00000435638.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000398976.1", "url": "https://www.ensembl.org/id/ENSP00000398976.1" } ] } }, { "isoform_ac": "J3KSV6-1", "url": "", "sequence": { "sequence": "MPHSYPALSAEQKKELSDIALRIVAPGKGILAADESVGSMAKRLSQIGVENTEENRRLYRQVLFSADDRVKKCIGGVIFFHETLYQKDDNGVPFVRTIQDKGIVVGIKVDKGVVPLAGTDGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKISERTPSALAILENANVLARYA", "length": 175, "header": "tr|J3KSV6-1|ALDOC_HUMAN Computationally mapped isoform of Fructose-bisphosphate aldolase C OS=Homo sapiens OX=9606 GN=ALDOC PE=1 SV=1 CANONICAL=P09972-1" }, "locus": { "chromosome": "17", "start_pos": 28575532, "end_pos": 28574711, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000584086.5", "url": "https://www.ensembl.org/id/ENST00000584086.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000462674.1", "url": "https://www.ensembl.org/id/ENSP00000462674.1" } ] } }, { "isoform_ac": "J3QKK1-1", "url": "", "sequence": { "sequence": "MPHSYPALSAEQKKELSDIALRIVAPGKGILAADESVGSMAKRLSQIGVENTEENRRLYRQVLFSADDRVKKCIGGVIFFHETLYQKDDNGVPFVRTIQDKGIVVGIKVDKGVVPLAGTDGE", "length": 122, "header": "tr|J3QKK1-1|ALDOC_HUMAN Computationally mapped isoform of Fructose-bisphosphate aldolase C OS=Homo sapiens OX=9606 GN=ALDOC PE=1 SV=1 CANONICAL=P09972-1" }, "locus": { "chromosome": "17", "start_pos": 28575532, "end_pos": 28574965, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000578590.1", "url": "https://www.ensembl.org/id/ENST00000578590.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000463118.1", "url": "https://www.ensembl.org/id/ENSP00000463118.1" } ] } }, { "isoform_ac": "J3QKP5-1", "url": "", "sequence": { "sequence": "MPHSYPALSAEQKKELSDIALRIVAPGKGILAADESVGSMAKRLSQIGVENTEENRRLYRQVLFSADDRVKKCIGGVIFFHETLYQKDDNGVPFVRTIQDKGIVVGIKVDKGVVPLAGTDGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKISERTPSALAILENANVLARYASICQQ", "length": 180, "header": "tr|J3QKP5-1|ALDOC_HUMAN Computationally mapped isoform of Fructose-bisphosphate aldolase C OS=Homo sapiens OX=9606 GN=ALDOC PE=1 SV=2 CANONICAL=P09972-1" }, "locus": { "chromosome": "17", "start_pos": 28575532, "end_pos": 28574696, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000460201.6", "url": "https://www.ensembl.org/id/ENST00000460201.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000463174.2", "url": "https://www.ensembl.org/id/ENSP00000463174.2" } ] } }, { "isoform_ac": "K7EKH5-1", "url": "", "sequence": { "sequence": "MAKRLSQIGVENTEENRRLYRQVLFSADDRVKKCIGGVIFFHETLYQKDDNGVPFVRTIQDKGIVVGIKVDKGVVPLAGTDGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKISERTPSALAILENANVLARY", "length": 135, "header": "tr|K7EKH5-1|ALDOC_HUMAN Computationally mapped isoform of Fructose-bisphosphate aldolase C OS=Homo sapiens OX=9606 GN=ALDOC PE=1 SV=1 CANONICAL=P09972-1" }, "locus": { "chromosome": "17", "start_pos": 28575329, "end_pos": 28574714, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000581807.5", "url": "https://www.ensembl.org/id/ENST00000581807.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000465623.1", "url": "https://www.ensembl.org/id/ENSP00000465623.1" } ] } }, { "isoform_ac": "P09972-1", "url": "", "sequence": { "sequence": "MPHSYPALSAEQKKELSDIALRIVAPGKGILAADESVGSMAKRLSQIGVENTEENRRLYRQVLFSADDRVKKCIGGVIFFHETLYQKDDNGVPFVRTIQDKGIVVGIKVDKGVVPLAGTDGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKISERTPSALAILENANVLARYASICQQNGIVPIVEPEILPDGDHDLKRCQYVTEKVLAAVYKALSDHHVYLEGTLLKPNMVTPGHACPIKYTPEEIAMATVTALRRTVPPAVPGVTFLSGGQSEEEASFNLNAINRCPLPRPWALTFSYGRALQASALNAWRGQRDNAGAATEEFIKRAEVNGLAAQGKYEGSGEDGGAAAQSLYIANHAY", "length": 364, "header": "sp|P09972-1|ALDOC_HUMAN Isoform 1 of Fructose-bisphosphate aldolase C OS=Homo sapiens OX=9606 GN=ALDOC PE=1 SV=2 CANONICAL=P09972-1" }, "locus": { "chromosome": "17", "start_pos": 28575532, "end_pos": 28573529, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000226253.9", "url": "https://www.ensembl.org/id/ENST00000226253.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000226253.4", "url": "https://www.ensembl.org/id/ENSP00000226253.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P09972", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09972" }, { "id": "16408927", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16408927" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" } ] } ], "phosphorylation": [ { "start_pos": 132, "end_pos": 132, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P09972", "url": "https://www.uniprot.org/uniprot/P09972" } ], "site_lbl": "Ser132" }, { "start_pos": 204, "end_pos": 204, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P09972", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09972" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr204" }, { "start_pos": 36, "end_pos": 36, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P09972", "url": "https://www.uniprot.org/uniprot/P09972" }, { "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": "P09972", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09972" }, { "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": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P09972", "url": "https://www.uniprot.org/uniprot/P09972" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P09972", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09972" } ], "site_lbl": "Ser39" }, { "start_pos": 45, "end_pos": 45, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P09972", "url": "https://www.uniprot.org/uniprot/P09972" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P09972", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09972" } ], "site_lbl": "Ser45" }, { "start_pos": 5, "end_pos": 5, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P09972", "url": "https://www.uniprot.org/uniprot/P09972" } ], "site_lbl": "Tyr5" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "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": "Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues.", "journal": "The Biochemical journal", "date": "2000", "authors": "Del Arco A, Agudo M, Satrustegui J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10642534", "url": "https://glygen.org/publication/PubMed/10642534" } ] }, { "title": "Human glyceraldehyde 3-phosphate dehydrogenase-2 gene is expressed specifically in spermatogenic cells.", "journal": "Journal of andrology", "date": "2000", "authors": "Welch JE, Brown PL, O'Brien DA, Magyar PL, Bunch DO, Mori C, Eddy EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "10714828", "url": "https://glygen.org/publication/PubMed/10714828" } ] }, { "title": "The crystal structure of human phosphoglucose isomerase at 1.6 A resolution: implications for catalytic mechanism, cytokine activity and haemolytic anaemia.", "journal": "Journal of molecular biology", "date": "2001", "authors": "Read J, Pearce J, Li X, Muirhead H, Chirgwin J, Davies C", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "11371164", "url": "https://glygen.org/publication/PubMed/11371164" } ] }, { "title": "Interaction between aldolase and vacuolar H+-ATPase: evidence for direct coupling of glycolysis to the ATP-hydrolyzing proton pump.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Lu M, Holliday L S, Zhang L, Dunn W A, Gluck S L", "evidence": [ { "database": "UniProtKB", "id": "P09972", "url": "https://www.uniprot.org/uniprot/P09972" } ], "reference": [ { "type": "PubMed", "id": "11399750", "url": "https://glygen.org/publication/PubMed/11399750" } ] }, { "title": "Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.", "journal": "Annals of neurology", "date": "2001", "authors": "Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11506403", "url": "https://glygen.org/publication/PubMed/11506403" } ] }, { "title": "Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria.", "journal": "The EMBO journal", "date": "2001", "authors": "Palmieri L, Pardo B, Lasorsa FM, del Arco A, Kobayashi K, Iijima M, Runswick MJ, Walker JE, Saheki T, Satrustegui J, Palmieri F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11566871", "url": "https://glygen.org/publication/PubMed/11566871" } ] }, { "title": "GLUT2 in pancreatic and extra-pancreatic gluco-detection (review).", "journal": "Molecular membrane biology", "date": "2001", "authors": "Thorens B", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "11780755", "url": "https://glygen.org/publication/PubMed/11780755" } ] }, { "title": "Crystal structure of human cytosolic phosphoenolpyruvate carboxykinase reveals a new GTP-binding site.", "journal": "Journal of molecular biology", "date": "2002", "authors": "Dunten P, Belunis C, Crowther R, Hollfelder K, Kammlott U, Levin W, Michel H, Ramsey GB, Swain A, Weber D, Wertheimer SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11851336", "url": "https://glygen.org/publication/PubMed/11851336" } ] }, { "title": "Phospholipase D2 directly interacts with aldolase via its PH domain.", "journal": "Biochemistry", "date": "2002", "authors": "Kim Jong Hyun, Lee Sukmook, Kim Jung Hwan, Lee Taehoon G, Hirata Masato, Suh Pann-Ghill, Ryu Sung Ho", "evidence": [ { "database": "UniProtKB", "id": "P09972", "url": "https://www.uniprot.org/uniprot/P09972" } ], "reference": [ { "type": "PubMed", "id": "11876650", "url": "https://glygen.org/publication/PubMed/11876650" } ] }, { "title": "Transport of phosphoenolpyruvate by the tricarboxylate transporting system in mammalian mitochondria.", "journal": "FEBS letters", "date": "1971", "authors": "Robinson BH", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11945784", "url": "https://glygen.org/publication/PubMed/11945784" } ] }, { "title": "Effects of synthetic analogues of phosphoenolpyruvate on muscle and liver pyruvate kinase, muscle enolase, liver phosphoenolpyruvate carboxykinase and on the intra-/extra-mitochondrial tricarboxylic acid carrier transport system.", "journal": "FEBS letters", "date": "1971", "authors": "Soling HD, Walter U, Sauer H, Kleineke J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11946196", "url": "https://glygen.org/publication/PubMed/11946196" } ] }, { "title": "The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Ghosh A, Shieh JJ, Pan CJ, Sun MS, Chou JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "12093795", "url": "https://glygen.org/publication/PubMed/12093795" } ] }, { "title": "Expression and characterization of a human pyruvate carboxylase variant by retroviral gene transfer.", "journal": "The Biochemical journal", "date": "2003", "authors": "Carbone MA, Robinson BH", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "12437512", "url": "https://glygen.org/publication/PubMed/12437512" } ] }, { "title": "Relationship of phosphoenolpyruvate transport, acyl coenzyme A inhibition of adenine nucleotide translocase and calcium ion efflux in guinea pig heart mitochondria.", "journal": "Archives of biochemistry and biophysics", "date": "1976", "authors": "Sul HS, Shrago E, Shug AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "1252077", "url": "https://glygen.org/publication/PubMed/1252077" } ] }, { "title": "Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency.", "journal": "Metabolic brain disease", "date": "2002", "authors": "Saheki T, Kobayashi K, Iijima M, Nishi I, Yasuda T, Yamaguchi N, Gao HZ, Jalil MA, Begum L, Li MX", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "12602510", "url": "https://glygen.org/publication/PubMed/12602510" } ] }, { "title": "Cloning and functional characterization of GNPI2, a novel human homolog of glucosamine-6-phosphate isomerase/oscillin.", "journal": "Journal of cellular biochemistry", "date": "2003", "authors": "Zhang J, Zhang W, Zou D, Chen G, Wan T, Li N, Cao X", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "12616532", "url": "https://glygen.org/publication/PubMed/12616532" } ] }, { "title": "Characterization of phosphoglycerate kinase from human spermatozoa.", "journal": "Fertility and sterility", "date": "1976", "authors": "Chen SH, Donahue RP, Scott CR", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "1278465", "url": "https://glygen.org/publication/PubMed/1278465" } ] }, { "title": "Two mammalian glucosamine-6-phosphate deaminases: a structural and genetic study.", "journal": "FEBS letters", "date": "2003", "authors": "Arreola R, Valderrama B, Morante ML, Horjales E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "12965206", "url": "https://glygen.org/publication/PubMed/12965206" } ] }, { "title": "Identification and characterisation of a new human glucose-6-phosphatase isoform.", "journal": "FEBS letters", "date": "2003", "authors": "Guionie O, Clottes E, Stafford K, Burchell A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "12965222", "url": "https://glygen.org/publication/PubMed/12965222" } ] }, { "title": "Enzymes of the human erythrocyte. IV. Phosphoglucose isomerase, purification and properties.", "journal": "The Journal of biological chemistry", "date": "1958", "authors": "TSUBOI KK, ESTRADA J, HUDSON PB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "13538944", "url": "https://glygen.org/publication/PubMed/13538944" } ] }, { "title": "Histidine 167 is the phosphate acceptor in glucose-6-phosphatase-beta forming a phosphohistidine enzyme intermediate during catalysis.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Ghosh A, Shieh JJ, Pan CJ, Chou JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "14718531", "url": "https://glygen.org/publication/PubMed/14718531" } ] }, { "title": "Enzymatic characterization of the pancreatic islet-specific glucose-6-phosphatase-related protein (IGRP).", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Petrolonis AJ, Yang Q, Tummino PJ, Fish SM, Prack AE, Jain S, Parsons TF, Li P, Dales NA, Ge L, Langston SP, Schuller AG, An WF, Tartaglia LA, Chen H, Hong SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "14722102", "url": "https://glygen.org/publication/PubMed/14722102" } ] }, { "title": "Structure of human brain fructose 1,6-(bis)phosphate aldolase: linking isozyme structure with function.", "journal": "Protein Sci.", "date": "2004", "authors": "Arakaki Tracy L, Pezza John A, Cronin Michelle A, Hopkins Chris E, Zimmer Danna B, Tolan Dean R, Allen Karen N", "evidence": [ { "database": "UniProtKB", "id": "P09972", "url": "https://www.uniprot.org/uniprot/P09972" } ], "reference": [ { "type": "PubMed", "id": "15537755", "url": "https://glygen.org/publication/PubMed/15537755" } ] }, { "title": "Developmental regulation and cellular distribution of human cytosolic malate dehydrogenase (MDH1).", "journal": "Journal of cellular biochemistry", "date": "2005", "authors": "Lo AS, Liew CT, Ngai SM, Tsui SK, Fung KP, Lee CY, Waye MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "15565635", "url": "https://glygen.org/publication/PubMed/15565635" } ] }, { "title": "Phosphoglycerate mutase BB isoenzyme deficiency in a patient with non-spherocytic anemia: familial and metabolic studies.", "journal": "Haematologica", "date": "2005", "authors": "Repiso A, Ramirez Bajo MJ, Corrons JL, Carreras J, Climent F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "15710582", "url": "https://glygen.org/publication/PubMed/15710582" } ] }, { "title": "Global identification of O-GlcNAc-modified proteins.", "journal": "Analytical chemistry", "date": "2006", "authors": "Nandi A, Sprung R, Barma DK, Zhao Y, Kim SC, Falck JR, Zhao Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P09972", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09972" } ], "reference": [ { "type": "PubMed", "id": "16408927", "url": "https://glygen.org/publication/PubMed/16408927" } ] }, { "title": "Structure of a high-resolution crystal form of human triosephosphate isomerase: improvement of crystals using the gel-tube method.", "journal": "Acta crystallographica. Section F, Structural biology and crystallization communications", "date": "2005", "authors": "Kinoshita T, Maruki R, Warizaya M, Nakajima H, Nishimura S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "16511037", "url": "https://glygen.org/publication/PubMed/16511037" } ] }, { "title": "An NADH-tetrazolium-coupled sensitive assay for malate dehydrogenase in mitochondria and crude tissue homogenates.", "journal": "Journal of biochemical and biophysical methods", "date": "2006", "authors": "Luo C, Wang X, Long J, Liu J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "16740313", "url": "https://glygen.org/publication/PubMed/16740313" } ] }, { "title": "Porphyrin accumulation in mitochondria is mediated by 2-oxoglutarate carrier.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Kabe Y, Ohmori M, Shinouchi K, Tsuboi Y, Hirao S, Azuma M, Watanabe H, Okura I, Handa H", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "16920706", "url": "https://glygen.org/publication/PubMed/16920706" } ] }, { "title": "Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Maliekal P, Sokolova T, Vertommen D, Veiga-da-Cunha M, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "17804405", "url": "https://glygen.org/publication/PubMed/17804405" } ] }, { "title": "The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2008", "authors": "Chen SY, Pan CJ, Nandigama K, Mansfield BC, Ambudkar SV, Chou JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "18337460", "url": "https://glygen.org/publication/PubMed/18337460" } ] }, { "title": "Isozymes of glyceraldehyde-3-phosphate dehydrogenase in man and other mammals.", "journal": "Annals of human genetics", "date": "1976", "authors": "Edwards YH, Clark P, Harris H", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "183598", "url": "https://glygen.org/publication/PubMed/183598" } ] }, { "title": "Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.", "journal": "Human mutation", "date": "2008", "authors": "Chou JY, Mansfield BC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "18449899", "url": "https://glygen.org/publication/PubMed/18449899" } ] }, { "title": "Structure, mechanism and regulation of pyruvate carboxylase.", "journal": "The Biochemical journal", "date": "2008", "authors": "Jitrapakdee S, St Maurice M, Rayment I, Cleland WW, Wallace JC, Attwood PV", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "18613815", "url": "https://glygen.org/publication/PubMed/18613815" } ] }, { "title": "Human liver glucokinase gene: cloning and sequence determination of two alternatively spliced cDNAs.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1991", "authors": "Tanizawa Y, Koranyi LI, Welling CM, Permutt MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "1871135", "url": "https://glygen.org/publication/PubMed/1871135" } ] }, { "title": "Crystalline d-glyceraldehyde-3-phosphate dehydrogenase from rabbit muscle.", "journal": "The Journal of biological chemistry", "date": "1948", "authors": "CORI GT, SLEIN MW, CORI CF", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "18910716", "url": "https://glygen.org/publication/PubMed/18910716" } ] }, { "title": "The prosthetic group of crystalline d-glyceraldehyde-3-phosphate dehydrogenase.", "journal": "The Journal of biological chemistry", "date": "1948", "authors": "TAYLOR JF, VELICK SF, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "18910717", "url": "https://glygen.org/publication/PubMed/18910717" } ] }, { "title": "Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Veiga-da-Cunha M, Vleugels W, Maliekal P, Matthijs G, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "18927083", "url": "https://glygen.org/publication/PubMed/18927083" } ] }, { "title": "A syndrome with congenital neutropenia and mutations in G6PC3.", "journal": "The New England journal of medicine", "date": "2009", "authors": "Boztug K, Appaswamy G, Ashikov A, Schaffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanne-Chantelot C, Rezaei N, Monkemoller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "19118303", "url": "https://glygen.org/publication/PubMed/19118303" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P09972", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09972" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "P09972", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09972" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "SLC37A1 and SLC37A2 are phosphate-linked, glucose-6-phosphate antiporters.", "journal": "PloS one", "date": "2011", "authors": "Pan CJ, Chen SY, Jun HS, Lin SR, Mansfield BC, Chou JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "21949678", "url": "https://glygen.org/publication/PubMed/21949678" } ] }, { "title": "Characterization of the transcription-initiation site and of the promoter region within the 5' flanking region of the human aldolase C gene.", "journal": "Eur. J. Biochem.", "date": "1990", "authors": "Buono P, Mancini F P, Izzo P, Salvatore F", "evidence": [ { "database": "UniProtKB", "id": "P09972", "url": "https://www.uniprot.org/uniprot/P09972" } ], "reference": [ { "type": "PubMed", "id": "2209624", "url": "https://glygen.org/publication/PubMed/2209624" } ] }, { "title": "Expression and role in glycolysis of human ADP-dependent glucokinase.", "journal": "Molecular and cellular biochemistry", "date": "2012", "authors": "Richter S, Richter JP, Mehta SY, Gribble AM, Sutherland-Smith AJ, Stowell KM, Print CG, Ronimus RS, Wilson WR", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "22219026", "url": "https://glygen.org/publication/PubMed/22219026" } ] }, { "title": "The amino acid sequence of cytosolic aspartate aminotransferase from human liver.", "journal": "The Biochemical journal", "date": "1990", "authors": "Doyle JM, Schinina ME, Bossa F, Doonan S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "2241899", "url": "https://glygen.org/publication/PubMed/2241899" } ] }, { "title": "T cell activation is driven by an ADP-dependent glucokinase linking enhanced glycolysis with mitochondrial reactive oxygen species generation.", "journal": "Cell reports", "date": "2012", "authors": "Kaminski MM, Sauer SW, Kaminski M, Opp S, Ruppert T, Grigaravicius P, Grudnik P, Grone HJ, Krammer PH, Gulow K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "23168256", "url": "https://glygen.org/publication/PubMed/23168256" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P09972", "url": "https://www.uniprot.org/uniprot/P09972" }, { "database": "iPTMnet", "id": "P09972", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09972" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Disruption of a spermatogenic cell-specific mouse enolase 4 (eno4) gene causes sperm structural defects and male infertility.", "journal": "Biology of reproduction", "date": "2013", "authors": "Nakamura N, Dai Q, Williams J, Goulding EH, Willis WD, Brown PR, Eddy EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "23446454", "url": "https://glygen.org/publication/PubMed/23446454" } ] }, { "title": "The SLC37 family of phosphate-linked sugar phosphate antiporters.", "journal": "Molecular aspects of medicine", "date": "2013", "authors": "Chou JY, Sik Jun H, Mansfield BC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "23506893", "url": "https://glygen.org/publication/PubMed/23506893" } ] }, { "title": "Proteome profiling of human neutrophil granule subsets, secretory vesicles, and cell membrane: correlation with transcriptome profiling of neutrophil precursors.", "journal": "Journal of leukocyte biology", "date": "2013", "authors": "Rorvig S, Ostergaard O, Heegaard NH, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "23650620", "url": "https://glygen.org/publication/PubMed/23650620" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P09972", "url": "https://www.uniprot.org/uniprot/P09972" }, { "database": "iPTMnet", "id": "P09972", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09972" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Tau-crystallin/alpha-enolase: one gene encodes both an enzyme and a lens structural protein.", "journal": "The Journal of cell biology", "date": "1988", "authors": "Wistow GJ, Lietman T, Williams LA, Stapel SO, de Jong WW, Horwitz J, Piatigorsky J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "2462567", "url": "https://glygen.org/publication/PubMed/2462567" } ] }, { "title": "Coordinated regulatory variation associated with gestational hyperglycaemia regulates expression of the novel hexokinase HKDC1.", "journal": "Nature communications", "date": "2015-02-04", "authors": "Guo Cong, Ludvik Anton E, Arlotto Michelle E, Hayes M Geoffrey, Armstrong Loren L, Scholtens Denise M, Brown Christopher D, Newgard Christopher B, Becker Thomas C, Layden Brian T, Lowe William L, Reddy Timothy E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "25648650", "url": "https://glygen.org/publication/PubMed/25648650" } ] }, { "title": "Identification of a mammalian glycerol-3-phosphate phosphatase: Role in metabolism and signaling in pancreatic beta-cells and hepatocytes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2016", "authors": "Mugabo Y, Zhao S, Seifried A, Gezzar S, Al-Mass A, Zhang D, Lamontagne J, Attane C, Poursharifi P, Iglesias J, Joly E, Peyot ML, Gohla A, Madiraju SR, Prentki M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "26755581", "url": "https://glygen.org/publication/PubMed/26755581" } ] }, { "title": "Refined crystal structure of cytoplasmic malate dehydrogenase at 2.5-A resolution.", "journal": "Biochemistry", "date": "1989", "authors": "Birktoft JJ, Rhodes G, Banaszak LJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "2775751", "url": "https://glygen.org/publication/PubMed/2775751" } ] }, { "title": "Members of the human glyceraldehyde-3-phosphate dehydrogenase-related gene family map to dispersed chromosomal locations.", "journal": "Genomics", "date": "1989", "authors": "Benham FJ, Povey S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "2793178", "url": "https://glygen.org/publication/PubMed/2793178" } ] }, { "title": "Sequence of the human erythrocyte phosphoglycerate mutase by microsequencer and mass spectrometry.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Blouquit Y, Calvin MC, Rosa R, Prome D, Prome JC, Pratbernou F, Cohen-Solal M, Rosa J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "2846554", "url": "https://glygen.org/publication/PubMed/2846554" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P09972", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09972" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.", "journal": "Human molecular genetics", "date": "2018", "authors": "Punzi G, Porcelli V, Ruggiu M, Hossain MF, Menga A, Scarcia P, Castegna A, Gorgoglione R, Pierri CL, Laera L, Lasorsa FM, Paradies E, Pisano I, Marobbio CMT, Lamantea E, Ghezzi D, Tiranti V, Giannattasio S, Donati MA, Guerrini R, Palmieri L, Palmieri F, De Grassi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "29211846", "url": "https://glygen.org/publication/PubMed/29211846" } ] }, { "title": "Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII.", "journal": "The Journal of clinical investigation", "date": "1987", "authors": "Vora S, DiMauro S, Spear D, Harker D, Danon MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "2960695", "url": "https://glygen.org/publication/PubMed/2960695" } ] }, { "title": "Hepatic HKDC1 Expression Contributes to Liver Metabolism.", "journal": "Endocrinology", "date": "2019", "authors": "Pusec CM, De Jesus A, Khan MW, Terry AR, Ludvik AE, Xu K, Giancola N, Pervaiz H, Daviau Smith E, Ding X, Harrison S, Chandel NS, Becker TC, Hay N, Ardehali H, Cordoba-Chacon J, Layden BT", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "30517626", "url": "https://glygen.org/publication/PubMed/30517626" } ] }, { "title": "Biochemical and genetic identity of alpha-keto acid reductase and cytoplasmic malate dehydrogenase from human erythrocytes.", "journal": "Annals of human genetics", "date": "1988", "authors": "Friedrich CA, Ferrell RE, Siciliano MJ, Kitto GB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "3052244", "url": "https://glygen.org/publication/PubMed/3052244" } ] }, { "title": "The complete amino acid sequence of the human aldolase C isozyme derived from genomic clones.", "journal": "Biochimie", "date": "1987", "authors": "Rottmann W H, Deselms K R, Niclas J, Camerato T, Holman P S, Green C J, Tolan D R", "evidence": [ { "database": "UniProtKB", "id": "P09972", "url": "https://www.uniprot.org/uniprot/P09972" } ], "reference": [ { "type": "PubMed", "id": "3105602", "url": "https://glygen.org/publication/PubMed/3105602" } ] }, { "title": "Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.", "journal": "American journal of human genetics", "date": "2019", "authors": "van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drogemoller BI, Koster J, Rousseau J, Campeau PM, Wang Y, Cao F, Li M, Ruiter J, Ciapaite J, Kluijtmans LAJ, Willemsen MAAP, Jans JJ, Ross CJ, Wintjes LT, Rodenburg RJ, Huigen MCDG, Jia Z, Waterham HR, Wasserman WW, Wanders RJA, Verhoeven-Duif NM, Zaki MS, Wevers RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "31422819", "url": "https://glygen.org/publication/PubMed/31422819" } ] }, { "title": "Isolation and complete sequence of a functional human glyceraldehyde-3-phosphate dehydrogenase gene.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Ercolani L, Florence B, Denaro M, Alexander M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "3170585", "url": "https://glygen.org/publication/PubMed/3170585" } ] }, { "title": "Complete amino acid sequence of the neurone-specific gamma isozyme of enolase (NSE) from human brain and comparison with the non-neuronal alpha form (NNE).", "journal": "European journal of biochemistry", "date": "1988", "authors": "McAleese SM, Dunbar B, Fothergill JE, Hinks LJ, Day IN", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "3208766", "url": "https://glygen.org/publication/PubMed/3208766" } ] }, { "title": "The complete nucleotide sequence of the gene coding for the human aldolase C.", "journal": "Nucleic Acids Res.", "date": "1988", "authors": "Buono P, Paolella G, Mancini F P, Izzo P, Salvatore F", "evidence": [ { "database": "UniProtKB", "id": "P09972", "url": "https://www.uniprot.org/uniprot/P09972" } ], "reference": [ { "type": "PubMed", "id": "3267224", "url": "https://glygen.org/publication/PubMed/3267224" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P09972", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09972" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "The complete amino acid sequence of human skeletal-muscle fructose-bisphosphate aldolase.", "journal": "The Biochemical journal", "date": "1988", "authors": "Freemont PS, Dunbar B, Fothergill-Gilmore LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "3355497", "url": "https://glygen.org/publication/PubMed/3355497" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P09972", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09972" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Phosphoenolpyruvate carboxykinase in cell metabolism: Roles and mechanisms beyond gluconeogenesis.", "journal": "Molecular metabolism", "date": "2021", "authors": "Yu S, Meng S, Xiang M, Ma H", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "34020084", "url": "https://glygen.org/publication/PubMed/34020084" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P09972", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09972" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "PCK2 opposes mitochondrial respiration and maintains the redox balance in starved lung cancer cells.", "journal": "Free radical biology & medicine", "date": "2021", "authors": "Bluemel G, Planque M, Madreiter-Sokolowski CT, Haitzmann T, Hrzenjak A, Graier WF, Fendt SM, Olschewski H, Leithner K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "34520823", "url": "https://glygen.org/publication/PubMed/34520823" } ] }, { "title": "Human testis-specific PGK gene lacks introns and possesses characteristics of a processed gene.", "journal": "Nature", "date": "1987", "authors": "McCarrey JR, Thomas K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "3453121", "url": "https://glygen.org/publication/PubMed/3453121" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P09972", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09972" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Hexokinase domain-containing protein-1 in metabolic diseases and beyond.", "journal": "Trends in endocrinology and metabolism: TEM", "date": "2022-01", "authors": "Zapater Joseph L, Lednovich Kristen R, Khan Md Wasim, Pusec Carolina M, Layden Brian T", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "34782236", "url": "https://glygen.org/publication/PubMed/34782236" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P09972", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09972" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Overexpression of aldolase, fructose-bisphosphate C and its association with spheroid formation in colorectal cancer.", "journal": "Pathology international", "date": "2022", "authors": "Maruyama R, Nagaoka Y, Ishikawa A, Akabane S, Fujiki Y, Taniyama D, Sentani K, Oue N", "evidence": [ { "database": "RefSeq", "id": "NP_005156", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005156" } ], "reference": [ { "type": "PubMed", "id": "35147255", "url": "https://glygen.org/publication/PubMed/35147255" } ] }, { "title": "Molecular cloning and nucleotide sequence of a full-length cDNA for human alpha enolase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1986", "authors": "Giallongo A, Feo S, Moore R, Croce CM, Showe LC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "3529090", "url": "https://glygen.org/publication/PubMed/3529090" } ] }, { "title": "Metabolic cycles and signals for insulin secretion.", "journal": "Cell metabolism", "date": "2022", "authors": "Merrins MJ, Corkey BE, Kibbey RG, Prentki M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "35728586", "url": "https://glygen.org/publication/PubMed/35728586" } ] }, { "title": "ALDOC- and ENO2- driven glucose metabolism sustains 3D tumor spheroids growth regardless of nutrient environmental conditions: a multi-omics analysis.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2023-03-22", "authors": "De Vitis Claudia, Battaglia Anna Martina, Pallocca Matteo, Santamaria Gianluca, Mimmi Maria Chiara, Sacco Alessandro, De Nicola Francesca, Gaspari Marco, Salvati Valentina, Ascenzi Francesca, Bruschini Sara, Esposito Antonella, Ricci Giulia, Sperandio Eleonora, Massacci Alice, Prestagiacomo Licia Elvira, Vecchione Andrea, Ricci Alberto, Sciacchitano Salvatore, Salerno Gerardo, French Deborah, Aversa Ilenia, Cereda Cristina, Fanciulli Maurizio, Chiaradonna Ferdinando, Solito Egle, Cuda Giovanni, Costanzo Francesco, Ciliberto Gennaro, Mancini Rita, Biamonte Flavia", "evidence": [ { "database": "RefSeq", "id": "NP_005156", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005156" } ], "reference": [ { "type": "PubMed", "id": "36945054", "url": "https://glygen.org/publication/PubMed/36945054" } ] }, { "title": "ALDOC regulated the biological function and immune infiltration of gastric cancer cells.", "journal": "The international journal of biochemistry & cell biology", "date": "2023-03-28", "authors": "Chen Liqiao, Zeng Yi, Ren Baoqing, Wang Xinyu, Zhao Fucheng, Du Jitao, Zhang Rupeng, Deng Jingyu", "evidence": [ { "database": "RefSeq", "id": "NP_005156", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005156" } ], "reference": [ { "type": "PubMed", "id": "36997056", "url": "https://glygen.org/publication/PubMed/36997056" } ] }, { "title": "The primary structure of mitochondrial aspartate aminotransferase from human heart.", "journal": "Biochimica et biophysica acta", "date": "1985", "authors": "Martini F, Angelaccio S, Barra D, Pascarella S, Maras B, Doonan S, Bossa F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4052435", "url": "https://glygen.org/publication/PubMed/4052435" } ] }, { "title": "Enolase isoenzymes in rat tissues. Electrophoretic, chromatographic, immunological and kinetic properties.", "journal": "Biochimica et biophysica acta", "date": "1974", "authors": "Rider CC, Taylor CB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "4413246", "url": "https://glygen.org/publication/PubMed/4413246" } ] }, { "title": "X-ray diffraction study of binding of 2,3-diphosphoglycerate to human deoxyhaemoglobin.", "journal": "Nature", "date": "1972", "authors": "Arnone A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "4555506", "url": "https://glygen.org/publication/PubMed/4555506" } ] }, { "title": "Mechanism of the exchanges catalysed by the oxoglutarate translocator of rat-heart mitochondria. Kinetics of the external-product inhibition.", "journal": "European journal of biochemistry", "date": "1973", "authors": "Sluse FE, Goffart G, Liebecq C", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4687397", "url": "https://glygen.org/publication/PubMed/4687397" } ] }, { "title": "Inhibition of phosphoenolpyruvate transport via the tricarboxylate and adenine nucleotide carrier systems of rat liver mitochondria.", "journal": "Biochemical and biophysical research communications", "date": "1973", "authors": "Shug AL, Shrago E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4716993", "url": "https://glygen.org/publication/PubMed/4716993" } ] }, { "title": "On the specificity of the tricarboxylate carrier system in rat liver mitochondria.", "journal": "FEBS letters", "date": "1973", "authors": "Kleineke J, Sauer H, Soling HD", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4719206", "url": "https://glygen.org/publication/PubMed/4719206" } ] }, { "title": "Relationship between intracellular distribution of phosphoenolpyruvate carboxykinase, regulation of gluconeogenesis, and energy cost of glucose formation.", "journal": "European journal of biochemistry", "date": "1973", "authors": "Soling HD, Kleineke J, Willms B, Janson G, Kuhn A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4745729", "url": "https://glygen.org/publication/PubMed/4745729" } ] }, { "title": "Phosphoglycerate mutase isozyme marker for tissue differentiation in man.", "journal": "American journal of human genetics", "date": "1974", "authors": "Omenn GS, Cheung SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4827367", "url": "https://glygen.org/publication/PubMed/4827367" } ] }, { "title": "Human phosphoglycerate kinase. I. Crystallization and characterization of normal enzyme.", "journal": "The Journal of biological chemistry", "date": "1972", "authors": "Yoshida A, Watanabe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "5009693", "url": "https://glygen.org/publication/PubMed/5009693" } ] }, { "title": "The purification and properties of diphosphoglycerate mutase from human erythrocytes.", "journal": "The Journal of biological chemistry", "date": "1968", "authors": "Rose ZB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "5687724", "url": "https://glygen.org/publication/PubMed/5687724" } ] }, { "title": "Primary structure of human triosephosphate isomerase.", "journal": "The Journal of biological chemistry", "date": "1984", "authors": "Lu HS, Yuan PM, Gracy RW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "6434534", "url": "https://glygen.org/publication/PubMed/6434534" } ] }, { "title": "Isozymes of human phosphofructokinase: identification and subunit structural characterization of a new system.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1980", "authors": "Vora S, Seaman C, Durham S, Piomelli S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "6444721", "url": "https://glygen.org/publication/PubMed/6444721" } ] }, { "title": "Isozymes of human phosphofructokinase in blood cells and cultured cell lines: molecular and genetic evidence for a trigenic system.", "journal": "Blood", "date": "1981", "authors": "Vora S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "6451249", "url": "https://glygen.org/publication/PubMed/6451249" } ] }, { "title": "Human skeletal-muscle aldolase: N-terminal sequence analysis of CNBr- and o-iodosobenzoic acid-cleavage fragments.", "journal": "Archives of biochemistry and biophysics", "date": "1984", "authors": "Freemont PS, Dunbar B, Fothergill LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "6696436", "url": "https://glygen.org/publication/PubMed/6696436" } ] }, { "title": "Complete amino acid sequence of human phosphoglycerate kinase. Isolation and amino acid sequence of tryptic peptides.", "journal": "The Journal of biological chemistry", "date": "1980", "authors": "Huang IY, Rubinfien E, Yoshida A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "6771269", "url": "https://glygen.org/publication/PubMed/6771269" } ] }, { "title": "Glyceraldehyde-3-phosphate dehydrogenase from human tissues.", "journal": "Methods in enzymology", "date": "1982", "authors": "Heinz F, Freimuller B", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "7144574", "url": "https://glygen.org/publication/PubMed/7144574" } ] }, { "title": "Compartmentation of hexokinase in human blood cells. Characterization of soluble and particulate enzymes.", "journal": "Biochimica et biophysica acta", "date": "1982", "authors": "Rijksen G, Staal GE, Beks PJ, Streefkerk M, Akkerman JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "7150652", "url": "https://glygen.org/publication/PubMed/7150652" } ] }, { "title": "Complete amino acid sequence of human phosphoglycerate kinase. Cyanogen bromide peptides and complete amino acid sequence.", "journal": "The Journal of biological chemistry", "date": "1980", "authors": "Huang IY, Welch CD, Yoshida A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "7391027", "url": "https://glygen.org/publication/PubMed/7391027" } ] }, { "title": "Citrate transport in liposomes reconstituted with triton extracts from mitochondria.", "journal": "Biochemical and biophysical research communications", "date": "1980", "authors": "Stipani I, Kramer R, Palmieri F, Klingenberg M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "7470147", "url": "https://glygen.org/publication/PubMed/7470147" } ] }, { "title": "Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.", "journal": "American journal of human genetics", "date": "1995", "authors": "Lei KJ, Chen YT, Chen H, Wong LJ, Liu JL, McConkie-Rosell A, Van Hove JL, Ou HC, Yeh NJ, Pan LY, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "7573034", "url": "https://glygen.org/publication/PubMed/7573034" } ] }, { "title": "Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance.", "journal": "American journal of human genetics", "date": "1995", "authors": "Ali M, Cox TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "7717389", "url": "https://glygen.org/publication/PubMed/7717389" } ] }, { "title": "Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.", "journal": "American journal of human genetics", "date": "1995", "authors": "Raben N, Exelbert R, Spiegel R, Sherman JB, Nakajima H, Plotz P, Heinisch J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "7825568", "url": "https://glygen.org/publication/PubMed/7825568" } ] }, { "title": "The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia.", "journal": "The Journal of clinical investigation", "date": "1994", "authors": "Xu W, Beutler E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "7989588", "url": "https://glygen.org/publication/PubMed/7989588" } ] }, { "title": "Cloning of a complete protein-coding sequence of human platelet-type phosphofructokinase isozyme from pancreatic islet.", "journal": "Biochemical and biophysical research communications", "date": "1994", "authors": "Eto K, Sakura H, Yasuda K, Hayakawa T, Kawasaki E, Moriuchi R, Nagataki S, Yazaki Y, Kadowaki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "8117307", "url": "https://glygen.org/publication/PubMed/8117307" } ] }, { "title": "Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.", "journal": "Science (New York, N.Y.)", "date": "1993", "authors": "Lei KJ, Shelly LL, Pan CJ, Sidbury JB, Chou JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8211187", "url": "https://glygen.org/publication/PubMed/8211187" } ] }, { "title": "Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Takeda J, Gidh-Jain M, Xu LZ, Froguel P, Velho G, Vaxillaire M, Cohen D, Shimada F, Makino H, Nishi S, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "8325892", "url": "https://glygen.org/publication/PubMed/8325892" } ] }, { "title": "The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.", "journal": "American journal of human genetics", "date": "1993", "authors": "Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8447317", "url": "https://glygen.org/publication/PubMed/8447317" } ] }, { "title": "Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus.", "journal": "American journal of human genetics", "date": "1996", "authors": "Watanabe M, Zingg BC, Mohrenweiser HW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8571957", "url": "https://glygen.org/publication/PubMed/8571957" } ] }, { "title": "The formation of a disulfide cross-link between the two subunits demonstrates the dimeric structure of the mitochondrial oxoglutarate carrier.", "journal": "Biochimica et biophysica acta", "date": "1996", "authors": "Bisaccia F, Zara V, Capobianco L, Iacobazzi V, Mazzeo M, Palmieri F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": 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Yamamoto Y, Fujisawa K, Hata I, Nakai A, Shigematsu Y, Mizunuma H, Taketo A, Mayumi M, Sudo M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9382095", "url": "https://glygen.org/publication/PubMed/9382095" } ] }, { "title": "Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.", "journal": "FEBS letters", "date": "1997", "authors": "Gerin I, Veiga-da-Cunha M, Achouri Y, Collet JF, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9428641", "url": "https://glygen.org/publication/PubMed/9428641" } ] }, { "title": "Molecularly cloned mammalian glucosamine-6-phosphate deaminase localizes to transporting epithelium and lacks oscillin activity.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "1998", "authors": "Wolosker H, Kline D, Bian Y, Blackshaw S, Cameron AM, Fralich TJ, Schnaar RL, Snyder SH", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "9438414", "url": "https://glygen.org/publication/PubMed/9438414" } ] }, { "title": "The mechanism of regulation of hexokinase: new insights from the crystal structure of recombinant human brain hexokinase complexed with glucose and glucose-6-phosphate.", "journal": "Structure (London, England : 1993)", "date": "1998", "authors": "Aleshin AE, Zeng C, Bourenkov GP, Bartunik HD, Fromm HJ, Honzatko RB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "9493266", "url": 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Structure, chromosomal localization and tissue-specific expression.", "journal": "The Biochemical journal", "date": "1998", "authors": "Modaressi S, Brechtel K, Christ B, Jungermann K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9657976", "url": "https://glygen.org/publication/PubMed/9657976" } ] }, { "title": "Isolation and characterization of an allelic cDNA for human muscle fructose-1,6-bisphosphatase.", "journal": "Gene", "date": "1998", "authors": "Tillmann H, Eschrich K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9678974", "url": "https://glygen.org/publication/PubMed/9678974" } ] }, { "title": "A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.", "journal": "American journal of human genetics", "date": "1998", "authors": "Veiga-da-Cunha M, Gerin I, Chen YT, de Barsy T, de Lonlay P, Dionisi-Vici C, Fenske CD, Lee PJ, Leonard JV, Maire I, McConkie-Rosell A, Schweitzer S, Vikkula M, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9758626", "url": "https://glygen.org/publication/PubMed/9758626" } ] }, { "title": "Aggregation states of mitochondrial malate dehydrogenase.", "journal": "Protein science : a publication of the Protein Society", "date": "1998", "authors": "Sanchez SA, Hazlett TL, Brunet JE, Jameson DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9792106", "url": "https://glygen.org/publication/PubMed/9792106" } ] } ], "pathway": [ { "id": "hsa:230", 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"evidence": [ { "database": "UniProtKB", "id": "P09972", "url": "https://www.uniprot.org/uniprot/P09972" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "glycolytic process", "id": "GO:0006096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006096", "evidence": [ { "database": "UniProtKB", "id": "P09972", "url": "https://www.uniprot.org/uniprot/P09972" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "P09972", "url": "https://www.uniprot.org/uniprot/P09972" } ], "pmid": "" }, { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "P09972", "url": "https://www.uniprot.org/uniprot/P09972" } ], "pmid": "" }, { "name": "fructose metabolic process", "id": "GO:0006000", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P09972", "url": "https://www.uniprot.org/uniprot/P09972" } ], "pmid": "" }, { "name": "secretory granule lumen", "id": "GO:0034774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034774", "evidence": [ { "database": "UniProtKB", "id": "P09972", "url": "https://www.uniprot.org/uniprot/P09972" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P09972", "url": "https://www.uniprot.org/uniprot/P09972" } ], "pmid": "" }, { "name": "ficolin-1-rich granule lumen", "id": "GO:1904813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904813", "evidence": [ { "database": "UniProtKB", "id": "P09972", "url": "https://www.uniprot.org/uniprot/P09972" } ], "pmid": "" }, { "name": "tertiary granule lumen", "id": "GO:1904724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904724", "evidence": [ { "database": "UniProtKB", "id": "P09972", "url": "https://www.uniprot.org/uniprot/P09972" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "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": "R-HSA-6798745", "name": "Exocytosis of tertiary granule lumen proteins", "equation": "", "summary": "Tertiary (gelatinase) granules are part of a continuum of peroxidase-negative granules formed in myelocytes, metamyelocytes, band cells and segmented neutrophils. They differ from secondary granules by having a low content of antimicrobial substances, and are more readily exocytosed (Sengelov et al. 1995). Tertiary granules are primarily a reservoir of extracellular matrix degrading enzymes and membrane receptors that are needed for neutrophil extravasation and diapedesis (Faurschou & Borregaard 2003).", "cellular_location": "extracellular region, tertiary granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P32320-1", "Q92820-1", "Q9NQR4-1", "P36871-1", "P07339-1", "P04075-1", "P09972-1", "Q13510-1", "Q8WVQ1-1", "P29350-1", "Q13231-1", "P14780-1", "Q16769-1", "P61626-1", "P02788-1", "P02794-1", "P98066-1", "P25774-1", "Q9H8H3-1", "P09960-1", "P35030-1", "O75874-1", "P22894-1", "O00391-1" ], "evidence": [ { "id": "R-HSA-6798745", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798745" } ] }, { "id": "R-HSA-6798748", "name": "Exocytosis of secretory granule lumen proteins", "equation": "", "summary": "Secretory vesicles provide a reservoir of secreted proteins and membrane-associated receptors that are required at the earliest stages of the neutrophil-mediated inflammatory response. They are mobilized in response to a wide variety of inflammatory stimuli (Sengelov et al. 1993a,b). Resultant cell surface changes allow the neutrophil to establish firm contact with activated vascular epithelium (Faurschou & Borregaard 2003).", "cellular_location": "extracellular region, secretory granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P18669-1", "Q13464-1", "P32320-1", "P09917-1", "O00487-1", "P13639-1", "P12268-1", "P62937-1", "Q96G03-1", "P68402-1", "Q99436-1", "P55072-1", "P68104-1", "P11142-1", "Q9Y315-1", "P13010-1", "P04075-1", "P09972-1", "P07900-1", "P09769-1", "P09211-1", "Q16539-1", "P14618-1", "P07741-1", "Q01432-1", "P12956-1", "Q7Z6Z7-1", "Q9UNP9-1", "P14174-1", "P04040-1", "O00571-1", "P06744-1", "P52790-1", "P11678-1", "P00491-1", "P06737-1", "P00746-1", "Q13162-1", "P17858-1", "P46976-1", "P22392-1", "P13716-1", "O75874-1", "P20839-1", "O00764-1" ], "evidence": [ { "id": "R-HSA-6798748", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798748" } ] }, { "id": "R-HSA-6800434", "name": "Exocytosis of ficolin-rich granule lumen proteins", "equation": "", "summary": "Ficoli-1 rich granules are a relatively new fourth neutrophil granule population that is enriched in the microbial lectin ficolin-1. Ficolin-1 is present in tertiary granules, but ficolin-1 rich granules can be differentiated by having low levels of gelatinases and an elevated exocytosis propensity (Rorvig et al. 2009, 2013). The importance of these granules may be to provide rapid release of pattern recognition molecules to activate the lectin complement pathway (Rorvig et al. 2009).", "cellular_location": "extracellular region, ficolin-1-rich granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9UBR2-1", "P18669-1", "P32320-1", "P09917-1", "O00487-1", "P13639-1", "P12268-1", "P62937-1", "P15586-1", "Q96G03-1", "Q9P0J7-1", "P68402-1", "P36871-1", "Q99436-1", "P07339-1", "P13798-1", "P53396-1", "P55072-1", "P68104-1", "P11142-1", "Q9Y315-1", "P04075-1", "P09972-1", "P07900-1", "P09211-1", "Q16539-1", "P07858-1", "P14618-1", "P28482-1", "Q01432-1", "P12956-1", "Q7Z6Z7-1", "Q9UNP9-1", "Q13510-1", "P14174-1", "P15848-1", "P16278-1", "Q8WVQ1-1", "P04040-1", "O00571-1", "P14780-1", "P06744-1", "P52790-1", "P00491-1", "P06737-1", "Q16769-1", "P08236-1", "P02794-1", "P07384-1", "Q14004-1", "P00746-1", "P98066-1", "P25774-1", "Q13162-1", "P17858-1", "P46976-1", "P09960-1", "P22392-1", "P13716-1", "O75874-1", "P20839-1" ], "evidence": [ { "id": "R-HSA-6800434", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6800434" } ] }, { "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": "" } ] } ], "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": "O00391", "gene_name": "QSOX1", "activity": [ { "ec_number": "1.8.3.2", "activity": "O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'.", "evidence": [ { "id": "O00391", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00391" } ] }, { "ec_number": "1.8.3.2", "activity": "", "evidence": [ { "id": "O00391", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00391" } ] } ] }, { "uniprot_ac": "O00487", "gene_name": "PSMD14", "activity": [ { "ec_number": "3.4.19.-", "activity": "", "evidence": [ { "id": "O00487", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00487" } ] } ] }, { "uniprot_ac": "O00571", "gene_name": "DDX3X", "activity": [ { "ec_number": "3.6.4.13", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "O00571", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00571" } ] }, { "ec_number": "3.6.4.13", "activity": "", "evidence": [ { "id": "O00571", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00571" } ] } ] }, { "uniprot_ac": "O00764", "gene_name": "PDXK", "activity": [ { "ec_number": "2.7.1.35", "activity": "ATP + pyridoxal = ADP + H(+) + pyridoxal 5'-phosphate.", "evidence": [ { "id": "O00764", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00764" } ] }, { "ec_number": "2.7.1.35", "activity": "", "evidence": [ { "id": "O00764", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00764" } ] } ] }, { "uniprot_ac": "O75874", "gene_name": "IDH1", "activity": [ { "ec_number": "1.1.1.42", "activity": "D-threo-isocitrate + NADP(+) = 2-oxoglutarate + CO2 + NADPH.", "evidence": [ { "id": "O75874", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75874" } ] }, { "ec_number": "1.1.1.42", "activity": "", "evidence": [ { "id": "O75874", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75874" } ] } ] }, { "uniprot_ac": "P00491", "gene_name": "PNP", "activity": [ { "ec_number": "2.4.2.1", "activity": "a purine 2'-deoxy-D-ribonucleoside + phosphate = 2-deoxy-alpha-D-ribose 1-phosphate + a purine nucleobase.", "evidence": [ { "id": "P00491", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00491" } ] }, { "ec_number": "2.4.2.1", "activity": "", "evidence": [ { "id": "P00491", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00491" } ] } ] }, { "uniprot_ac": "P00746", "gene_name": "CFD", "activity": [ { "ec_number": "3.4.21.46", "activity": "Selective cleavage of Arg-|-Lys bond in complement factor B when in complex with complement subcomponent C3b or with cobra venom factor.", "evidence": [ { "id": "P00746", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00746" } ] }, { "ec_number": "3.4.21.46", "activity": "", "evidence": [ { "id": "P00746", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00746" } ] } ] }, { "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": "P02788", "gene_name": "LTF", "activity": [ { "ec_number": "3.4.21.-", "activity": "", "evidence": [ { "id": "P02788", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02788" } ] } ] }, { "uniprot_ac": "P02794", "gene_name": "FTH1", "activity": [ { "ec_number": "1.16.3.1", "activity": "4 Fe(2+) + 4 H(+) + O2 = 4 Fe(3+) + 2 H2O.", "evidence": [ { "id": "P02794", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02794" } ] }, { "ec_number": "1.16.3.1", "activity": "", "evidence": [ { "id": "P02794", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02794" } ] } ] }, { "uniprot_ac": "P04040", "gene_name": "CAT", "activity": [ { "ec_number": "1.11.1.6", "activity": "2 H2O2 = 2 H2O + O2.", "evidence": [ { "id": "P04040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04040" } ] }, { "ec_number": "1.11.1.6", "activity": "", "evidence": [ { "id": "P04040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04040" } ] } ] }, { "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": "P06737", "gene_name": "PYGL", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "P06737", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06737" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "P06737", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06737" } ] } ] }, { "uniprot_ac": "P06744", "gene_name": "GPI", "activity": [ { "ec_number": "5.3.1.9", "activity": "alpha-D-glucose 6-phosphate = beta-D-fructose 6-phosphate.", "evidence": [ { "id": "P06744", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06744" } ] }, { "ec_number": "5.3.1.9", "activity": "", "evidence": [ { "id": "P06744", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06744" } ] } ] }, { "uniprot_ac": "P07339", "gene_name": "CTSD", "activity": [ { "ec_number": "3.4.23.5", "activity": "Specificity similar to, but narrower than, that of pepsin A. Does not cleave the 4-Gln-|-His-5 bond in B chain of insulin.", "evidence": [ { "id": "P07339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07339" } ] }, { "ec_number": "3.4.23.5", "activity": "", "evidence": [ { "id": "P07339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07339" } ] } ] }, { "uniprot_ac": "P07384", "gene_name": "CAPN1", "activity": [ { "ec_number": "3.4.22.52", "activity": "Broad endopeptidase specificity.", "evidence": [ { "id": "P07384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07384" } ] }, { "ec_number": "3.4.22.52", "activity": "", "evidence": [ { "id": "P07384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07384" } ] } ] }, { "uniprot_ac": "P07741", "gene_name": "APRT", "activity": [ { "ec_number": "2.4.2.7", "activity": "AMP + diphosphate = 5-phospho-alpha-D-ribose 1-diphosphate + adenine.", "evidence": [ { "id": "P07741", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07741" } ] }, { "ec_number": "2.4.2.7", "activity": "", "evidence": [ { "id": "P07741", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07741" } ] } ] }, { "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": [ { "id": "P07764", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07764" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P07764", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07764" } ] } ] }, { "uniprot_ac": "P07858", "gene_name": "CTSB", "activity": [ { "ec_number": "3.4.22.1", "activity": "Hydrolysis of proteins with broad specificity for peptide bonds. Preferentially cleaves -Arg-Arg-|-Xaa bonds in small molecule substrates (thus differing from cathepsin L). In addition to being an endopeptidase, shows peptidyl-dipeptidase activity, liberating C-terminal dipeptides.", "evidence": [ { "id": "P07858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07858" } ] }, { "ec_number": "3.4.22.1", "activity": "", "evidence": [ { "id": "P07858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07858" } ] } ] }, { "uniprot_ac": "P07900", "gene_name": "HSP90AA1", "activity": [ { "ec_number": "3.6.4.10", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P07900", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07900" } ] }, { "ec_number": "3.6.4.10", "activity": "", "evidence": [ { "id": "P07900", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07900" } ] } ] }, { "uniprot_ac": "P08236", "gene_name": "GUSB", "activity": [ { "ec_number": "3.2.1.31", "activity": "a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate.", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236" } ] }, { "ec_number": "3.2.1.31", "activity": "", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236" } ] } ] }, { "uniprot_ac": "P09117", "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": "P09117", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09117" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P09117", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09117" } ] } ] }, { "uniprot_ac": "P09211", "gene_name": "GSTP1", "activity": [ { "ec_number": "2.5.1.18", "activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).", "evidence": [ { "id": "P09211", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09211" } ] }, { "ec_number": "2.5.1.18", "activity": "", "evidence": [ { "id": "P09211", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09211" } ] } ] }, { "uniprot_ac": "P09769", "gene_name": "FGR", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P09769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09769" } ] }, { "ec_number": "2.7.10.2", "activity": "", "evidence": [ { "id": "P09769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09769" } ] } ] }, { "uniprot_ac": "P09917", "gene_name": "ALOX5", "activity": [ { "ec_number": "1.13.11.-", "activity": "", "evidence": [ { "id": "P09917", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09917" } ] }, { "ec_number": "1.13.11.34", "activity": "(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = H2O + leukotriene A4.", "evidence": [ { "id": "P09917", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09917" } ] } ] }, { "uniprot_ac": "P09960", "gene_name": "LTA4H", "activity": [ { "ec_number": "3.3.2.6", "activity": "H2O + leukotriene A4 = leukotriene B4.", "evidence": [ { "id": "P09960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09960" } ] }, { "ec_number": "3.4.11.4", "activity": "Release of the N-terminal residue from a tripeptide.", "evidence": [ { "id": "P09960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09960" } ] }, { "ec_number": "3.3.2.6", "activity": "", "evidence": [ { "id": "P09960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09960" } ] } ] }, { "uniprot_ac": "P09972", "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": "P09972", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09972" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P09972", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09972" } ] } ] }, { "uniprot_ac": "P11142", "gene_name": "HSPA8", "activity": [ { "ec_number": "3.6.4.10", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P11142", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11142" } ] }, { "ec_number": "3.6.4.10", "activity": "", "evidence": [ { "id": "P11142", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11142" } ] } ] }, { "uniprot_ac": "P11678", "gene_name": "EPX", "activity": [ { "ec_number": "1.11.1.7", "activity": "2 a phenolic donor + H2O2 = 2 a phenolic radical donor + 2 H2O.", "evidence": [ { "id": "P11678", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11678" } ] }, { "ec_number": "1.11.1.7", "activity": "", "evidence": [ { "id": "P11678", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11678" } ] } ] }, { "uniprot_ac": "P12268", "gene_name": "IMPDH2", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "P12268", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12268" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "P12268", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12268" } ] } ] }, { "uniprot_ac": "P12956", "gene_name": "XRCC6", "activity": [ { "ec_number": "4.2.99.-", "activity": "", "evidence": [ { "id": "P12956", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12956" } ] }, { "ec_number": "3.6.4.-", "activity": "", "evidence": [ { "id": "P12956", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12956" } ] } ] }, { "uniprot_ac": "P13010", "gene_name": "XRCC5", "activity": [ { "ec_number": "3.6.4.-", "activity": "", "evidence": [ { "id": "P13010", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13010" } ] } ] }, { "uniprot_ac": "P13639", "gene_name": "EEF2", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P13639", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13639" } ] } ] }, { "uniprot_ac": "P13716", "gene_name": "ALAD", "activity": [ { "ec_number": "4.2.1.24", "activity": "2 5-aminolevulinate = H(+) + 2 H2O + porphobilinogen.", "evidence": [ { "id": "P13716", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13716" } ] }, { "ec_number": "4.2.1.24", "activity": "", "evidence": [ { "id": "P13716", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13716" } ] } ] }, { "uniprot_ac": "P13798", "gene_name": "APEH", "activity": [ { "ec_number": "3.4.19.1", "activity": "Internal cleavage of oxidized and glycated proteins.", "evidence": [ { "id": "P13798", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13798" } ] }, { "ec_number": "3.4.19.1", "activity": "", "evidence": [ { "id": "P13798", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13798" } ] } ] }, { "uniprot_ac": "P14174", "gene_name": "MIF", "activity": [ { "ec_number": "5.3.2.1", "activity": "3-phenylpyruvate = enol-phenylpyruvate.", "evidence": [ { "id": "P14174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14174" } ] }, { "ec_number": "5.3.3.12", "activity": "L-dopachrome = 5,6-dihydroxyindole-2-carboxylate.", "evidence": [ { "id": "P14174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14174" } ] }, { "ec_number": "5.3.2.1", "activity": "", "evidence": [ { "id": "P14174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14174" } ] } ] }, { "uniprot_ac": "P14540", "gene_name": "FBA1", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P14540", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14540" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P14540", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14540" } ] } ] }, { "uniprot_ac": "P14618", "gene_name": "PKM", "activity": [ { "ec_number": "2.7.1.40", "activity": "CTP + pyruvate = CDP + H(+) + phosphoenolpyruvate.", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] }, { "ec_number": "2.7.1.40", "activity": "", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] }, { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] }, { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] } ] }, { "uniprot_ac": "P14780", "gene_name": "MMP9", "activity": [ { "ec_number": "3.4.24.35", "activity": "Cleavage of gelatin types I and V and collagen types IV and V.", "evidence": [ { "id": "P14780", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14780" } ] }, { "ec_number": "3.4.24.35", "activity": "", "evidence": [ { "id": "P14780", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14780" } ] } ] }, { "uniprot_ac": "P15586", "gene_name": "GNS", "activity": [ { "ec_number": "3.1.6.14", "activity": "Hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate.", "evidence": [ { "id": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] }, { "ec_number": "3.1.6.14", "activity": "", "evidence": [ { "id": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] } ] }, { "uniprot_ac": "P15848", "gene_name": "ARSB", "activity": [ { "ec_number": "3.1.6.12", "activity": "Hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate.", "evidence": [ { "id": "P15848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15848" } ] }, { "ec_number": "3.1.6.12", "activity": "", "evidence": [ { "id": "P15848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15848" } ] } ] }, { "uniprot_ac": "P16278", "gene_name": "GLB1", "activity": [ { "ec_number": "3.2.1.23", "activity": "Hydrolysis of terminal non-reducing beta-D-galactose residues in beta-D-galactosides.", "evidence": [ { "id": "P16278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16278" } ] }, { "ec_number": "3.2.1.23", "activity": "", "evidence": [ { "id": "P16278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16278" } ] } ] }, { "uniprot_ac": "P17858", "gene_name": "PFKL", "activity": [ { "ec_number": "2.7.1.11", "activity": "ATP + beta-D-fructose 6-phosphate = ADP + beta-D-fructose 1,6-bisphosphate + H(+).", "evidence": [ { "id": "P17858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17858" } ] }, { "ec_number": "2.7.1.11", "activity": "", "evidence": [ { "id": "P17858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17858" } ] } ] }, { "uniprot_ac": "P18669", "gene_name": "PGAM1", "activity": [ { "ec_number": "5.4.2.11", "activity": "(2R)-2-phosphoglycerate = (2R)-3-phosphoglycerate.", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] }, { "ec_number": "5.4.2.4", "activity": "(2R)-3-phospho-glyceroyl phosphate = (2R)-2,3-bisphosphoglycerate + H(+).", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] }, { "ec_number": "5.4.2.4", "activity": "", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] }, { "ec_number": "5.4.2.11", "activity": "", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] } ] }, { "uniprot_ac": "P20839", "gene_name": "IMPDH1", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "P20839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20839" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "P20839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20839" } ] } ] }, { "uniprot_ac": "P22392", "gene_name": "NME2", "activity": [ { "ec_number": "2.7.4.6", "activity": "a ribonucleoside 5'-diphosphate + ATP = a ribonucleoside 5'-triphosphate + ADP.", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] }, { "ec_number": "2.7.13.3", "activity": "ATP + protein L-histidine = ADP + protein N-phospho-L-histidine.", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] }, { "ec_number": "2.7.4.6", "activity": "", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] }, { "ec_number": "2.7.13.3", "activity": "", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] } ] }, { "uniprot_ac": "P22894", "gene_name": "MMP8", "activity": [ { "ec_number": "3.4.24.34", "activity": "Cleavage of interstitial collagens in the triple helical domain. Unlike EC 3.4.24.7, this enzyme cleaves type III collagen more slowly than type I.", "evidence": [ { "id": "P22894", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22894" } ] }, { "ec_number": "3.4.24.34", "activity": "", "evidence": [ { "id": "P22894", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22894" } ] } ] }, { "uniprot_ac": "P25774", "gene_name": "CTSS", "activity": [ { "ec_number": "3.4.22.27", "activity": "Similar to cathepsin L, but with much less activity on Z-Phe-Arg-|-NHMec, and more activity on the Z-Val-Val-Arg-|-Xaa compound.", "evidence": [ { "id": "P25774", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25774" } ] }, { "ec_number": "3.4.22.27", "activity": "", "evidence": [ { "id": "P25774", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25774" } ] } ] }, { "uniprot_ac": "P28482", "gene_name": "MAPK1", "activity": [ { "ec_number": "2.7.11.24", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] }, { "ec_number": "2.7.11.24", "activity": "", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] } ] }, { "uniprot_ac": "P29350", "gene_name": "PTPN6", "activity": [ { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P29350", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29350" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "P29350", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29350" } ] } ] }, { "uniprot_ac": "P32320", "gene_name": "CDA", "activity": [ { "ec_number": "3.5.4.5", "activity": "2'-deoxycytidine + H(+) + H2O = 2'-deoxyuridine + NH4(+).", "evidence": [ { "id": "P32320", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32320" } ] }, { "ec_number": "3.5.4.5", "activity": "", "evidence": [ { "id": "P32320", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32320" } ] } ] }, { "uniprot_ac": "P35030", "gene_name": "PRSS3", "activity": [ { "ec_number": "3.4.21.4", "activity": "Preferential cleavage: Arg-|-Xaa, Lys-|-Xaa.", "evidence": [ { "id": "P35030", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35030" } ] }, { "ec_number": "3.4.21.4", "activity": "", "evidence": [ { "id": "P35030", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35030" } ] } ] }, { "uniprot_ac": "P36871", "gene_name": "PGM1", "activity": [ { "ec_number": "5.4.2.2", "activity": "alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate.", "evidence": [ { "id": "P36871", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36871" } ] }, { "ec_number": "5.4.2.2", "activity": "", "evidence": [ { "id": "P36871", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36871" } ] } ] }, { "uniprot_ac": "P46976", "gene_name": "GYG1", "activity": [ { "ec_number": "2.4.1.186", "activity": "[1,4-alpha-D-glucosyl](n)-L-tyrosyl-[glycogenin] + UDP-alpha-D-glucose = [1,4-alpha-D-glucosyl](n+1)-L-tyrosyl-[glycogenin] + H(+) + UDP.", "evidence": [ { "id": "P46976", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46976" } ] }, { "ec_number": "2.4.1.186", "activity": "", "evidence": [ { "id": "P46976", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46976" } ] } ] }, { "uniprot_ac": "P52790", "gene_name": "HK3", "activity": [ { "ec_number": "2.7.1.1", "activity": "ATP + D-fructose = ADP + D-fructose 6-phosphate + H(+).", "evidence": [ { "id": "P52790", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52790" } ] }, { "ec_number": "2.7.1.1", "activity": "", "evidence": [ { "id": "P52790", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52790" } ] }, { "ec_number": "2.7.1.-", "activity": "", "evidence": [ { "id": "P52790", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52790" } ] } ] }, { "uniprot_ac": "P53396", "gene_name": "ACLY", "activity": [ { "ec_number": "2.3.3.8", "activity": "acetyl-CoA + ADP + oxaloacetate + phosphate = ATP + citrate + CoA.", "evidence": [ { "id": "P53396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53396" } ] }, { "ec_number": "2.3.3.8", "activity": "", "evidence": [ { "id": "P53396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53396" } ] } ] }, { "uniprot_ac": "P55072", "gene_name": "VCP", "activity": [ { "ec_number": "3.6.4.6", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] }, { "ec_number": "3.6.4.6", "activity": "", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] } ] }, { "uniprot_ac": "P61626", "gene_name": "LYZ", "activity": [ { "ec_number": "3.2.1.17", "activity": "Hydrolysis of (1->4)-beta-linkages between N-acetylmuramic acid and N-acetyl-D-glucosamine residues in a peptidoglycan and between N-acetyl-D-glucosamine residues in chitodextrins.", "evidence": [ { "id": "P61626", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61626" } ] }, { "ec_number": "3.2.1.17", "activity": "", "evidence": [ { "id": "P61626", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61626" } ] } ] }, { "uniprot_ac": "P62937", "gene_name": "PPIA", "activity": [ { "ec_number": "5.2.1.8", "activity": "[protein]-peptidylproline (omega=180) = [protein]-peptidylproline (omega=0).", "evidence": [ { "id": "P62937", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62937" } ] }, { "ec_number": "5.2.1.8", "activity": "", "evidence": [ { "id": "P62937", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62937" } ] } ] }, { "uniprot_ac": "P68104", "gene_name": "EEF1A1", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P68104", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P68104" } ] } ] }, { "uniprot_ac": "P68402", "gene_name": "PAFAH1B2", "activity": [ { "ec_number": "3.1.1.47", "activity": "a 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + acetate + H(+).", "evidence": [ { "id": "P68402", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P68402" } ] }, { "ec_number": "3.1.1.47", "activity": "", "evidence": [ { "id": "P68402", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P68402" } ] } ] }, { "uniprot_ac": "P98066", "gene_name": "TNFAIP6", "activity": [ { "ec_number": "3.1.1.-", "activity": "", "evidence": [ { "id": "P98066", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98066" } ] } ] }, { "uniprot_ac": "Q01432", "gene_name": "AMPD3", "activity": [ { "ec_number": "3.5.4.6", "activity": "AMP + H(+) + H2O = IMP + NH4(+).", "evidence": [ { "id": "Q01432", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01432" } ] }, { "ec_number": "3.5.4.6", "activity": "", "evidence": [ { "id": "Q01432", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01432" } ] } ] }, { "uniprot_ac": "Q13162", "gene_name": "PRDX4", "activity": [ { "ec_number": "1.11.1.24", "activity": "[thioredoxin]-dithiol + a hydroperoxide = [thioredoxin]-disulfide + an alcohol + H2O.", "evidence": [ { "id": "Q13162", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13162" } ] }, { "ec_number": "1.11.1.24", "activity": "", "evidence": [ { "id": "Q13162", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13162" } ] } ] }, { "uniprot_ac": "Q13231", "gene_name": "CHIT1", "activity": [ { "ec_number": "3.2.1.14", "activity": "Random endo-hydrolysis of N-acetyl-beta-D-glucosaminide (1->4)-beta-linkages in chitin and 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"https://www.uniprot.org/uniprot/Q13510" } ] }, { "ec_number": "3.5.1.23", "activity": "", "evidence": [ { "id": "Q13510", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13510" } ] }, { "ec_number": "3.5.1.-", "activity": "", "evidence": [ { "id": "Q13510", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13510" } ] } ] }, { "uniprot_ac": "Q14004", "gene_name": "CDK13", "activity": [ { "ec_number": "2.7.11.22", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] }, { "ec_number": "2.7.11.23", "activity": "[DNA-directed RNA polymerase] + ATP = ADP + H(+) + phospho-[DNA-directed RNA polymerase].", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] }, { "ec_number": "2.7.11.22", "activity": "", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] }, { "ec_number": "2.7.11.23", "activity": "", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] } ] }, { "uniprot_ac": "Q16539", "gene_name": "MAPK14", "activity": [ { "ec_number": "2.7.11.24", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q16539", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16539" } ] }, { "ec_number": "2.7.11.24", "activity": "", "evidence": [ { "id": "Q16539", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16539" } ] } ] }, { "uniprot_ac": "Q16769", "gene_name": "QPCT", "activity": [ { "ec_number": "2.3.2.5", "activity": "N-terminal L-glutaminyl-[peptide] = N-terminal 5-oxo-L-prolyl-[peptide] + NH4(+).", "evidence": [ { "id": "Q16769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16769" } ] }, { "ec_number": "2.3.2.5", "activity": "", "evidence": [ { "id": "Q16769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16769" } ] } ] }, { "uniprot_ac": "Q6AY07", "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": "Q6AY07", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AY07" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "Q6AY07", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AY07" } ] } ] }, { "uniprot_ac": "Q7Z6Z7", "gene_name": "HUWE1", "activity": [ { "ec_number": "2.3.2.26", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q7Z6Z7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7Z6Z7" } ] }, { "ec_number": "2.3.2.26", "activity": "", "evidence": [ { "id": "Q7Z6Z7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7Z6Z7" } ] } ] }, { "uniprot_ac": "Q86A67", "gene_name": "fba", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "Q86A67", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86A67" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "Q86A67", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86A67" } ] } ] }, { "uniprot_ac": "Q8WVQ1", "gene_name": "CANT1", "activity": [ { "ec_number": "3.6.1.6", "activity": "ADP + H2O = AMP + H(+) + phosphate.", "evidence": [ { "id": "Q8WVQ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WVQ1" } ] }, { "ec_number": "3.6.1.6", "activity": "", "evidence": [ { "id": "Q8WVQ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WVQ1" } ] } ] }, { "uniprot_ac": "Q91Y97", "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": "Q91Y97", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91Y97" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "Q91Y97", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91Y97" } ] } ] }, { "uniprot_ac": "Q92820", "gene_name": "GGH", "activity": [ { "ec_number": "3.4.19.9", "activity": "(6S)-5,6,7,8-tetrahydrofolyl-(gamma-L-Glu)(n) + (n-1) H2O = (6S)-5,6,7,8-tetrahydrofolate + (n-1) L-glutamate.", "evidence": [ { "id": "Q92820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92820" } ] }, { "ec_number": "3.4.19.9", "activity": "", "evidence": [ { "id": "Q92820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92820" } ] } ] }, { "uniprot_ac": "Q96G03", "gene_name": "PGM2", "activity": [ { "ec_number": "5.4.2.2", "activity": "alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate.", "evidence": [ { "id": "Q96G03", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96G03" } ] }, { "ec_number": "5.4.2.7", "activity": "2-deoxy-alpha-D-ribose 1-phosphate = 2-deoxy-D-ribose 5-phosphate.", "evidence": [ { "id": "Q96G03", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96G03" } ] }, { "ec_number": "5.4.2.7", "activity": "", "evidence": [ { "id": "Q96G03", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96G03" } ] } ] }, { "uniprot_ac": "Q99436", "gene_name": "PSMB7", "activity": [ { "ec_number": "3.4.25.1", "activity": "Cleavage of peptide bonds with very broad specificity.", "evidence": [ { "id": "Q99436", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99436" } ] }, { "ec_number": "3.4.25.1", "activity": "", "evidence": [ { "id": "Q99436", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99436" } ] } ] }, { "uniprot_ac": "Q9H8H3", "gene_name": "TMT1A", "activity": [ { "ec_number": "2.1.1.348", "activity": "an adenosine in mRNA + S-adenosyl-L-methionine = an N(6)-methyladenosine in mRNA + H(+) + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9H8H3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H8H3" } ] }, { "ec_number": "2.1.1.9", "activity": "a thiol + S-adenosyl-L-methionine = a methyl thioether + H(+) + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9H8H3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H8H3" } ] }, { "ec_number": "2.1.1.9", "activity": "", "evidence": [ { "id": "Q9H8H3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H8H3" } ] } ] }, { "uniprot_ac": "Q9NQR4", "gene_name": "NIT2", "activity": [ { "ec_number": "3.5.1.3", "activity": "a monoamide of a dicarboxylate + H2O = a dicarboxylate + NH4(+).", "evidence": [ { "id": "Q9NQR4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NQR4" } ] }, { "ec_number": "3.5.1.3", "activity": "", "evidence": [ { "id": "Q9NQR4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NQR4" } ] } ] }, { "uniprot_ac": "Q9P0J7", "gene_name": "KCMF1", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q9P0J7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P0J7" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9P0J7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P0J7" } ] } ] }, { "uniprot_ac": "Q9UBR2", "gene_name": "CTSZ", "activity": [ { "ec_number": "3.4.18.1", "activity": "Release of C-terminal amino acid residues with broad specificity, but 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