{ "uniprot_canonical_ac": "O94925-1", "uniprot_ac": "O94925", "uniprot_id": "GLSK_HUMAN", "mass": { "chemical_mass": 73461.0, "monoisotopic_mass": 73461.0 }, "refseq": { "ac": "NP_001243239", "name": "glutaminase kidney isoform, mitochondrial isoform 2", "summary": "This gene encodes the K-type mitochondrial glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This protein is primarily expressed in the brain and kidney plays an essential role in generating energy for metabolism, synthesizing the brain neurotransmitter glutamate and maintaining acid-base balance in the kidney. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243239" }, "gene_names": [ { "name": "GLS", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O94925", "id": "O94925" }, { "name": "AAD20; CASGID; DEE71; EIEE71; GAC; GAM; GDPAG; GLS1; KGA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243239", "id": "NP_001243239" }, { "name": "GLS1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94925", "id": "O94925" }, { "name": "GLS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243239", "id": "NP_001243239" }, { "name": "KIAA0838", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94925", "id": "O94925" } ], "protein_names": [ { "name": "Glutaminase kidney isoform, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O94925" }, { "name": "3.5.1.2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94925" }, { "name": "GLS", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94925" }, { "name": "K-glutaminase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94925" }, { "name": "L-glutamine amidohydrolase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94925" }, { "name": "glutaminase C; L-glutamine amidohydrolase; K-glutaminase; glutaminase, phosphate-activated", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243239", "id": "NP_001243239" }, { "name": "glutaminase kidney isoform, mitochondrial isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243239", "id": "NP_001243239" } ], "function": [ { "annotation": "Catalyzes the first reaction in the primary pathway for the renal catabolism of glutamine. Plays a role in maintaining acid-base homeostasis. Regulates the levels of the neurotransmitter glutamate, the main excitatory neurotransmitter in the brain (PubMed:30575854, PubMed:30239721, PubMed:30970188).", "evidence": [ { "database": "UniProtKB", "id": "O94925", "url": "https://www.uniprot.org/uniprot/O94925#function" }, { "database": "PubMed", "id": "30239721", "url": "https://glygen.org/publication/PubMed/30239721" }, { "database": "PubMed", "id": "30575854", "url": "https://glygen.org/publication/PubMed/30575854" }, { "database": "PubMed", "id": "30970188", "url": "https://glygen.org/publication/PubMed/30970188" } ] }, { "annotation": "Glutaminase (GLS1) gene expression in primary breast cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001243239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243239" }, { "database": "PubMed", "id": "37679553", "url": "https://glygen.org/publication/PubMed/37679553" } ] }, { "annotation": "Lacks catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "O94925", "url": "https://www.uniprot.org/uniprot/O94925#function" }, { "database": "PubMed", "id": "11015561", "url": "https://glygen.org/publication/PubMed/11015561" } ] }, { "annotation": "LncRNA PVT1 Confers Cisplatin Resistance of Esophageal Cancer Cells through Modulating the miR-181a-5p-Glutaminase (GLS) Axis.", "evidence": [ { "database": "RefSeq", "id": "NP_001243239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243239" }, { "database": "PubMed", "id": "37401860", "url": "https://glygen.org/publication/PubMed/37401860" } ] }, { "annotation": "SIRT4 protects against intestinal fibrosis by facilitating GLS1 degradation.", "evidence": [ { "database": "RefSeq", "id": "NP_001243239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243239" }, { "database": "PubMed", "id": "37541633", "url": "https://glygen.org/publication/PubMed/37541633" } ] }, { "annotation": "This gene encodes the K-type mitochondrial glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This protein is primarily expressed in the brain and kidney plays an essential role in generating energy for metabolism, synthesizing the brain neurotransmitter glutamate and maintaining acid-base balance in the kidney. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_001243239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243239" } ] } ], "disease": [ { "disease_id": "DOID:0112207", "recommended_name": { "id": "DOID:0112207", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112207", "name": "developmental and epileptic encephalopathy 71", "description": "A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2." }, "synonyms": [ { "id": "DOID:0112207", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112207", "name": "DEE71", "description": "" }, { "id": "DOID:0112207", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112207", "name": "early infantile epileptic encephalopathy 71", "description": "" }, { "id": "DOID:0112207", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112207", "name": "glutaminase deficiency with neonatal epileptic encephalopathy", "description": "" }, { "id": "MONDO:0032678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032678", "name": "developmental and epileptic encephalopathy, 71", "description": "" }, { "id": "MONDO:0032678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032678", "name": "DEE71", "description": "" }, { "id": "MONDO:0032678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032678", "name": "EIEE71", "description": "" }, { "id": "MONDO:0032678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032678", "name": "developmental and epileptic encephalopathy 71", "description": "" }, { "id": "MONDO:0032678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032678", "name": "epileptic encephalopathy, early infantile, 71", "description": "" }, { "id": "MONDO:0032678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032678", "name": "neonatal epileptic encephalopathy due to glutaminase deficiency", "description": "" }, { "id": "MONDO:0032678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032678", "name": "Glutaminase Deficiency With Neonatal Epileptic Encephalopathy", "description": "" }, { "id": "MIM:618328", "resource": "MIM", "url": "https://www.omim.org/entry/618328", "name": "Developmental and epileptic encephalopathy 71", "description": "Developmental and epileptic encephalopathy 71" } ], "evidence": [ { "id": "618328", "database": "MIM", "url": "https://www.omim.org/entry/618328" } ] }, { "disease_id": "MONDO:0032685", "recommended_name": { "id": "MONDO:0032685", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032685", "name": "infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development", "description": "" }, "synonyms": [ { "id": "MONDO:0032685", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032685", "name": "infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development", "description": "" }, { "id": "MONDO:0032685", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032685", "name": "CASGID", "description": "" }, { "id": "MONDO:0032685", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032685", "name": "INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT", "description": "" }, { "id": "MIM:618339", "resource": "MIM", "url": "https://www.omim.org/entry/618339", "name": "Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development", "description": "Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development" } ], "evidence": [ { "id": "618339", "database": "MIM", "url": "https://www.omim.org/entry/618339" } ] }, { "disease_id": "MONDO:0032733", "recommended_name": { "id": "MONDO:0032733", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032733", "name": "global developmental delay, progressive ataxia, and elevated glutamine", "description": "" }, "synonyms": [ { "id": "MONDO:0032733", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032733", "name": "GDPAG", "description": "" }, { "id": "MONDO:0032733", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032733", "name": "GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE", "description": "" }, { "id": "MONDO:0032733", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032733", "name": "Glutaminase Deficiency With Impaired Intellectual Development and Progressive Ataxia", "description": "" }, { "id": "MIM:618412", "resource": "MIM", "url": "https://www.omim.org/entry/618412", "name": "Global developmental delay, progressive ataxia, and elevated glutamine", "description": "Global developmental delay, progressive ataxia, and elevated glutamine" } ], "evidence": [ { "id": "618412", "database": "MIM", "url": "https://www.omim.org/entry/618412" } ] } ], "snv": [ { "evidence": [ { "id": "rs146901041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146901041" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 365, "end_pos": 365, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKM->NKT).", "chr_id": "2", "chr_pos": "190921167", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M365", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1413502468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1413502468" }, { "id": "rs1413502468", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1413502468" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 620, "end_pos": 620, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->SNT).", "chr_id": "2", "chr_pos": "190962835", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N620", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 249, "end_pos": 249, "sequence_org": "Y", "sequence_mut": "A", "comment": "Loss of enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "O94925", "url": "https://www.uniprot.org/uniprot/O94925" }, { "database": "PubMed", "id": "24451979", "url": "https://glygen.org/publication/PubMed/24451979" } ] }, { "start_pos": 286, "end_pos": 286, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "O94925", "url": "https://www.uniprot.org/uniprot/O94925" }, { "database": "PubMed", "id": "24451979", "url": "https://glygen.org/publication/PubMed/24451979" } ] }, { "start_pos": 289, "end_pos": 289, "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "O94925", "url": "https://www.uniprot.org/uniprot/O94925" }, { "database": "PubMed", "id": "24451979", "url": "https://glygen.org/publication/PubMed/24451979" } ] }, { "start_pos": 318, "end_pos": 318, "sequence_org": "F", "sequence_mut": "Y", "comment": "No effect on catalytic activity. Loss of inhibition by BPTES; when associated with S-322.", "evidence": [ { "database": "UniProtKB", "id": "O94925", "url": "https://www.uniprot.org/uniprot/O94925" }, { "database": "PubMed", "id": "22049910", "url": "https://glygen.org/publication/PubMed/22049910" } ] }, { "start_pos": 321, "end_pos": 321, "sequence_org": "L", "sequence_mut": "A", "comment": "Decreased enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "O94925", "url": "https://www.uniprot.org/uniprot/O94925" }, { "database": "PubMed", "id": "22538822", "url": "https://glygen.org/publication/PubMed/22538822" } ] }, { "start_pos": 322, "end_pos": 322, "sequence_org": "F", "sequence_mut": "S", "comment": "No effect on catalytic activity. Loss of inhibition by BPTES; when associated with Y-318.", "evidence": [ { "database": "UniProtKB", "id": "O94925", "url": "https://www.uniprot.org/uniprot/O94925" }, { "database": "PubMed", "id": "22049910", "url": "https://glygen.org/publication/PubMed/22049910" } ] }, { "start_pos": 323, "end_pos": 323, "sequence_org": "L", "sequence_mut": "A", "comment": "Decreased enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "O94925", "url": "https://www.uniprot.org/uniprot/O94925" }, { "database": "PubMed", "id": "22538822", "url": "https://glygen.org/publication/PubMed/22538822" } ] }, { "start_pos": 394, "end_pos": 394, "sequence_org": "Y", "sequence_mut": "A", "comment": "Decreased enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "O94925", "url": "https://www.uniprot.org/uniprot/O94925" }, { "database": "PubMed", "id": "22538822", "url": "https://glygen.org/publication/PubMed/22538822" } ] }, { "start_pos": 394, "end_pos": 394, "sequence_org": "Y", "sequence_mut": "L", "comment": "No effect on catalytic activity. Loss of inhibition by BPTES.", "evidence": [ { "database": "UniProtKB", "id": "O94925", "url": "https://www.uniprot.org/uniprot/O94925" }, { "database": "PubMed", "id": "22049910", "url": "https://glygen.org/publication/PubMed/22049910" } ] }, { "start_pos": 466, "end_pos": 466, "sequence_org": "Y", "sequence_mut": "A", "comment": "Loss of enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "O94925", "url": "https://www.uniprot.org/uniprot/O94925" }, { "database": "PubMed", "id": "24451979", "url": "https://glygen.org/publication/PubMed/24451979" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "97.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115419" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115419" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "92.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115419" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "89.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115419" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "95.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115419" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115419" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "83.06", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000115419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115419" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115419" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "95.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115419" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "90.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115419" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "87.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115419" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115419" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "94.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115419" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O94925", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94925" } ], "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", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O94925", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94925" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O94925", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94925" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O94925", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94925" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"categories": [ "Protein" ] }, { "id": "O94925", "url": "https://www.uniprot.org/uniprot/O94925", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94925-1", "url": "https://www.uniprot.org/uniprot/O94925-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94925-2", "url": "https://www.uniprot.org/uniprot/O94925-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94925-3", "url": "https://www.uniprot.org/uniprot/O94925-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MMRLRGSGMLRDLLLRSPAGVSATLRRAQPLVTLCRRPRGGGRPAAGPAAAARLHPWWGGGGWPAEPLARGLSSSPSEILQELGKGSTHPQPGVSPPAAPAAPGPKDGPGETDAFGNSEGKELVASGENKIKQGLLPSLEDLLFYTIAEGQEKIPVHKFITALKSTGLRTSDPRLKECMDMLRLTLQTTSDGVMLDKDLFKKCVQSNIVLLTQAFRRKFVIPDFMSFTSHIDELYESAKKQSGGKVADYIPQLAKFSPDLWGVSVCTVDGQRHSTGDTKVPFCLQSCVKPLKYAIAVNDLGTEYVHRYVGKEPSGLRFNKLFLNEDDKPHNPMVNAGAIVVTSLIKQGVNNAEKFDYVMQFLNKMAGNEYVGFSNATFQSERESGDRNFAIGYYLKEKKCFPEGTDMVGILDFYFQLCSIEVTCESASVMAATLANGGFCPITGERVLSPEAVRNTLSLMHSCGMYDFSGQFAFHVGLPAKSGVAGGILLVVPNVMGMMCWSPPLDKMGNSVKGIHFCHDLVSLCNFHNYDNLRHFAKKLDPRREGGDQRVKSVINLLFAAYTGDVSALRRFALSAMDMEQRDYDSRTALHVAAAEGHVEVVKFLLEACKVNPFPKDRWNNTPMDEALHFGHHDVFKILQEYQVQYTPQGDSDNGKENQTVHKNLDGLL", "length": 669, "header": "sp|O94925-1|GLSK_HUMAN Isoform 1 of Glutaminase kidney isoform, mitochondrial OS=Homo sapiens OX=9606 GN=GLS PE=1 SV=1 CANONICAL=O94925-1" }, "isoforms": [ { "isoform_ac": "A0A994J3S8-1", "url": "", "sequence": { "sequence": "NFHNYDNLRHFAKKLDPRREGGDQRLGPFFTQVH", "length": 34, "header": "tr|A0A994J3S8-1|GLSK_HUMAN Computationally mapped isoform of Glutaminase kidney isoform, mitochondrial OS=Homo sapiens OX=9606 GN=GLS PE=1 SV=1 CANONICAL=O94925-1" }, "locus": { "chromosome": "2", "start_pos": 190932683, "end_pos": 190931563, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000471443.1", "url": "https://www.ensembl.org/id/ENST00000471443.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515417.1", "url": "https://www.ensembl.org/id/ENSP00000515417.1" } ] } }, { "isoform_ac": "A0A9L9PXA4-1", "url": "", "sequence": { "sequence": "XKIKQGLLPSLEDLLFYTIAEGQEKIPVHKFITMCSEQHCFVDTSI", "length": 46, "header": "tr|A0A9L9PXA4-1|GLSK_HUMAN Computationally mapped isoform of Glutaminase kidney isoform, mitochondrial OS=Homo sapiens OX=9606 GN=GLS PE=1 SV=1 CANONICAL=O94925-1" }, "locus": { "chromosome": "2", "start_pos": 190900604, "end_pos": 190895152, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000706565.1", "url": "https://www.ensembl.org/id/ENST00000706565.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516450.1", "url": "https://www.ensembl.org/id/ENSP00000516450.1" } ] } }, { "isoform_ac": "B7Z509-1", "url": "", "sequence": { "sequence": "MGMMCWSPPLDKMGNSVKGIHFCHDLVSLCNFHNYDNLRHFAKKLDPRREGGDQRVKSVINLLFAAYTGDVSALRRFALSAMDMEQRDYDSRTALHVAAAEGHVEVVKFLLEACKVNPFPKDRWNNTPMDEALHFGHHDVFKILQEYQVQYTPQGDSDNGKENQTVHKNLDGLL", "length": 174, "header": "tr|B7Z509-1|GLSK_HUMAN Computationally mapped isoform of Glutaminase kidney isoform, mitochondrial OS=Homo sapiens OX=9606 GN=GLS PE=1 SV=1 CANONICAL=O94925-1" }, "locus": { "chromosome": "2", "start_pos": 190962983, "end_pos": 190930497, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409428.5", "url": "https://www.ensembl.org/id/ENST00000409428.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000387177.1", "url": "https://www.ensembl.org/id/ENSP00000387177.1" } ] } }, { "isoform_ac": "B8ZZC5-1", "url": "", "sequence": { "sequence": "MGMMCWSPPLDKMGNSVKGIHFCHDLVSLCNFHNYDNLRHFAKKLDPRREGGDQRHSFGPLDYESLQQELALKETVWKKVSPESNEDISTTVVYRMESLGEKS", "length": 103, "header": "tr|B8ZZC5-1|GLSK_HUMAN Computationally mapped isoform of Glutaminase kidney isoform, mitochondrial OS=Homo sapiens OX=9606 GN=GLS PE=1 SV=1 CANONICAL=O94925-1" }, "locus": { "chromosome": "2", "start_pos": 190932859, "end_pos": 190930497, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409215.5", "url": "https://www.ensembl.org/id/ENST00000409215.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000387135.1", "url": "https://www.ensembl.org/id/ENSP00000387135.1" } ] } }, { "isoform_ac": "H7BZD1-1", "url": "", "sequence": { "sequence": "XLRTSDPRLKECMDMLRLTLQTTSDGVMLDKDLFKKCVQSNIVLLTQAFRRKFVIPDFMSFTSHIDELYESAKKQSGGKVADYIPQLAKFSPDLWGVSVCTVDGQRHSTGDTKVPFCLQSCVKPLKYAIAVNDLGTEYVHRYVGKEPSGLRFNKLFLNEDDKPHNPMVNAGAIVVTSLIKDWW", "length": 183, "header": "tr|H7BZD1-1|H7BZD1_HUMAN Computationally mapped isoform of glutaminase OS=Homo sapiens OX=9606 GN=GLS PE=1 SV=2 CANONICAL=O94925-1" }, "locus": { "chromosome": "2", "start_pos": 190913202, "end_pos": 190895620, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000417154.6", "url": "https://www.ensembl.org/id/ENST00000417154.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000388990.2", "url": "https://www.ensembl.org/id/ENSP00000388990.2" } ] } }, { "isoform_ac": "H7C201-1", "url": "", "sequence": { "sequence": "MMRLRGSGMLRDLLLRSPAGVSATLRRAQPLVTLCRRPRGGGRPAAGPAAAARLHPWWGGGGWPAEPLARGLSSSPSEILQELGKGSTHPQPGVSPPAAPAAPGPKDGPGETDAFGNSEGKELVASGENKIKQGLLPSLEDLLFYTIAEGQEKIPVHKFITALKSTGLRTSDPRLKECMDMLRLTLQTTSDGVMLDKDLFKKCVQSNIVLLTQAFRRKFVIPDFMSFTSHIDELYESAKKQSGGKVADYIPQLAKFSPDLWGVSVCTVDGQRHSTGDTKVPFCLQSCVKPLKYAIAVNDLGTEYVHRYVGKEPSGLRFNKLFLNEDDKPHNPMVNAGAIVVTSLIKQGVNNAEKFDYVMQFLNKMAGNEYVGFSNATFQSERESGDRNFAIGYYLKEKKCFPEGTDMVGILDFYFQLCSIEVTCESASVMAATLANGGFCPITGERVLSPEAVRNTLSLMHSCGMYDFSGQFAFHVGLPAKSGVAGGILLVVPNVMGMMCWSPPLDKMGNSVKGIHFCHDLVSLCNFHNYDNLRHFAKKLDPRREGGDQRVKSVINLLFAAYTGDVSALRRFALSAMDMEQRDYDSRTALHVAAAEGGITLPWMKHCTLDTMMYLKFSKNTKSSTHLKEILTTGRKIKPSIRILMDCCNGLKSQDLNHLPI", "length": 661, "header": "tr|H7C201-1|GLSK_HUMAN Computationally mapped isoform of Glutaminase kidney isoform, mitochondrial OS=Homo sapiens OX=9606 GN=GLS PE=1 SV=2 CANONICAL=O94925-1" }, "locus": { "chromosome": "2", "start_pos": 190963023, "end_pos": 190881085, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000412247.2", "url": "https://www.ensembl.org/id/ENST00000412247.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000403329.2", "url": "https://www.ensembl.org/id/ENSP00000403329.2" } ] } }, { "isoform_ac": "O94925-1", "url": "", "sequence": { "sequence": "MMRLRGSGMLRDLLLRSPAGVSATLRRAQPLVTLCRRPRGGGRPAAGPAAAARLHPWWGGGGWPAEPLARGLSSSPSEILQELGKGSTHPQPGVSPPAAPAAPGPKDGPGETDAFGNSEGKELVASGENKIKQGLLPSLEDLLFYTIAEGQEKIPVHKFITALKSTGLRTSDPRLKECMDMLRLTLQTTSDGVMLDKDLFKKCVQSNIVLLTQAFRRKFVIPDFMSFTSHIDELYESAKKQSGGKVADYIPQLAKFSPDLWGVSVCTVDGQRHSTGDTKVPFCLQSCVKPLKYAIAVNDLGTEYVHRYVGKEPSGLRFNKLFLNEDDKPHNPMVNAGAIVVTSLIKQGVNNAEKFDYVMQFLNKMAGNEYVGFSNATFQSERESGDRNFAIGYYLKEKKCFPEGTDMVGILDFYFQLCSIEVTCESASVMAATLANGGFCPITGERVLSPEAVRNTLSLMHSCGMYDFSGQFAFHVGLPAKSGVAGGILLVVPNVMGMMCWSPPLDKMGNSVKGIHFCHDLVSLCNFHNYDNLRHFAKKLDPRREGGDQRVKSVINLLFAAYTGDVSALRRFALSAMDMEQRDYDSRTALHVAAAEGHVEVVKFLLEACKVNPFPKDRWNNTPMDEALHFGHHDVFKILQEYQVQYTPQGDSDNGKENQTVHKNLDGLL", "length": 669, "header": "sp|O94925-1|GLSK_HUMAN Isoform 1 of Glutaminase kidney isoform, mitochondrial OS=Homo sapiens OX=9606 GN=GLS PE=1 SV=1 CANONICAL=O94925-1" }, "locus": { "chromosome": "2", "start_pos": 190962983, "end_pos": 190881085, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000320717.8", "url": "https://www.ensembl.org/id/ENST00000320717.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000317379.3", "url": "https://www.ensembl.org/id/ENSP00000317379.3" } ] } }, { "isoform_ac": "O94925-2", "url": "", "sequence": { "sequence": "MMRLRGSGMLRDLLLRSPAGVSATLRRAQPLVTLCRRPRGGGRPAAGPAAAARLHPWWGGGGWPAEPLARGLSSSPSEILQELGKGSTHPQPGVSPPAAPAAPGPKDGPGETDAFGNSEGKELVASGENKIKQGLLPSLEDLLFYTIAEGQEKIPVHKFITVSFYIFLS", "length": 169, "header": "sp|O94925-2|GLSK_HUMAN Isoform 2 of Glutaminase kidney isoform, mitochondrial OS=Homo sapiens OX=9606 GN=GLS PE=1 SV=1 CANONICAL=O94925-1" }, "locus": {} }, { "isoform_ac": "O94925-3", "url": "", "sequence": { "sequence": "MMRLRGSGMLRDLLLRSPAGVSATLRRAQPLVTLCRRPRGGGRPAAGPAAAARLHPWWGGGGWPAEPLARGLSSSPSEILQELGKGSTHPQPGVSPPAAPAAPGPKDGPGETDAFGNSEGKELVASGENKIKQGLLPSLEDLLFYTIAEGQEKIPVHKFITALKSTGLRTSDPRLKECMDMLRLTLQTTSDGVMLDKDLFKKCVQSNIVLLTQAFRRKFVIPDFMSFTSHIDELYESAKKQSGGKVADYIPQLAKFSPDLWGVSVCTVDGQRHSTGDTKVPFCLQSCVKPLKYAIAVNDLGTEYVHRYVGKEPSGLRFNKLFLNEDDKPHNPMVNAGAIVVTSLIKQGVNNAEKFDYVMQFLNKMAGNEYVGFSNATFQSERESGDRNFAIGYYLKEKKCFPEGTDMVGILDFYFQLCSIEVTCESASVMAATLANGGFCPITGERVLSPEAVRNTLSLMHSCGMYDFSGQFAFHVGLPAKSGVAGGILLVVPNVMGMMCWSPPLDKMGNSVKGIHFCHDLVSLCNFHNYDNLRHFAKKLDPRREGGDQRHSFGPLDYESLQQELALKETVWKKVSPESNEDISTTVVYRMESLGEKS", "length": 598, "header": "sp|O94925-3|GLSK_HUMAN Isoform 3 of Glutaminase kidney isoform, mitochondrial OS=Homo sapiens OX=9606 GN=GLS PE=1 SV=1 CANONICAL=O94925-1" }, "locus": { "chromosome": "2", "start_pos": 190932859, "end_pos": 190881085, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000338435.9", "url": "https://www.ensembl.org/id/ENST00000338435.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000340689.4", "url": "https://www.ensembl.org/id/ENSP00000340689.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G27947YN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 620, "start_aa": "Asn", "end_pos": 620, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn620", "evidence": [ { "id": "O94925", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G36670VW", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 620, "start_aa": "Asn", "end_pos": 620, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn620", "evidence": [ { "id": "O94925", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G52527GH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 620, "start_aa": "Asn", "end_pos": 620, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn620", "evidence": [ { "id": "2043", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2043" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G66760KM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 620, "start_aa": "Asn", "end_pos": 620, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn620", "evidence": [ { "id": "2043", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2043" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G83646BJ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 620, "start_aa": "Asn", "end_pos": 620, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn620", "evidence": [ { "id": "O94925", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G91473PK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 620, "start_aa": "Asn", "end_pos": 620, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn620", "evidence": [ { "id": "2043", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2043" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O94925", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94925" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 314, "end_pos": 314, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94925", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94925" }, { "database": "PubMed", "id": "29515166", "url": "https://glygen.org/publication/PubMed/29515166" } ], "site_lbl": "Ser314" }, { "start_pos": 652, "end_pos": 652, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94925", "url": "https://www.uniprot.org/uniprot/O94925" } ], "site_lbl": "Ser652" }, { "start_pos": 73, "end_pos": 73, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94925", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94925" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser73" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Importance of glucose-6-phosphate dehydrogenase activity in cell death.", "journal": "The American journal of physiology", "date": "1999", "authors": "Tian WN, Braunstein LD, Apse K, Pang J, Rose M, Tian X, Stanton RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "10329961", "url": "https://glygen.org/publication/PubMed/10329961" } ] }, { "title": "Munc13-1 is essential for fusion competence of glutamatergic synaptic vesicles.", "journal": "Nature", "date": "1999", "authors": "Augustin I, Rosenmund C, Sudhof TC, Brose N", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "10440375", "url": "https://glygen.org/publication/PubMed/10440375" } ] }, { "title": "Molecular cloning, sequencing and expression studies of the human breast cancer cell glutaminase.", "journal": "The Biochemical journal", "date": "2000", "authors": "Gomez-Fabre PM, Aledo JC, Del Castillo-Olivares A, Alonso FJ, Nunez De Castro I, Campos JA, Marquez J", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "10620514", "url": "https://glygen.org/publication/PubMed/10620514" } ] }, { "title": "A ribonucleotide reductase gene involved in a p53-dependent cell-cycle checkpoint for DNA damage.", "journal": "Nature", "date": "2000", "authors": "Tanaka H, Arakawa H, Yamaguchi T, Shiraishi K, Fukuda S, Matsui K, Takei Y, Nakamura Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "10716435", "url": "https://glygen.org/publication/PubMed/10716435" } ] }, { "title": "Isolation, characterization and expression of a human brain mitochondrial glutaminase cDNA.", "journal": "Brain Res. Mol. Brain Res.", "date": "2000", "authors": "Holcomb T, Taylor L, Trohkimoinen J, Curthoys NP", "evidence": [ { "database": "UniProtKB", "id": "O94925", "url": "https://www.uniprot.org/uniprot/O94925" } ], "reference": [ { "type": "PubMed", "id": "10719215", "url": "https://glygen.org/publication/PubMed/10719215" } ] }, { "title": "Human glucose-6-phosphate dehydrogenase: the crystal structure reveals a structural NADP(+) molecule and provides insights into enzyme deficiency.", "journal": "Structure (London, England : 1993)", "date": "2000", "authors": "Au SW, Gover S, Lam VM, Adams MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "10745013", "url": "https://glygen.org/publication/PubMed/10745013" } ] }, { "title": "A ribonucleotide reductase gene is a transcriptional target of p53 and p73.", "journal": "Oncogene", "date": "2000", "authors": "Nakano K, Balint E, Ashcroft M, Vousden KH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "10980602", "url": "https://glygen.org/publication/PubMed/10980602" } ] }, { "title": "Identification of a vesicular glutamate transporter that defines a glutamatergic phenotype in neurons.", "journal": "Nature", "date": "2000", "authors": "Takamori S, Rhee JS, Rosenmund C, Jahn R", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "11001057", "url": "https://glygen.org/publication/PubMed/11001057" } ] }, { "title": "Cloning and analysis of unique human glutaminase isoforms generated by tissue-specific alternative splicing.", "journal": "Physiological genomics", "date": "1999", "authors": "Elgadi KM, Meguid RA, Qian M, Souba WW, Abcouwer SF", "evidence": [ { "database": "UniProtKB", "id": "O94925", "url": "https://www.uniprot.org/uniprot/O94925" }, { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "11015561", "url": "https://glygen.org/publication/PubMed/11015561" } ] }, { "title": "Overexpression of fructose 2,6-bisphosphatase decreases glycolysis and delays cell cycle progression.", "journal": "American journal of physiology. Cell physiology", "date": "2000", "authors": "Perez JX, Roig T, Manzano A, Dalmau M, Boada J, Ventura F, Rosa JL, Bermudez J, Bartrons R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "11029283", "url": "https://glygen.org/publication/PubMed/11029283" } ] }, { "title": "Cells overexpressing fructose-2,6-bisphosphatase showed enhanced pentose phosphate pathway flux and resistance to oxidative stress.", "journal": "FEBS letters", "date": "2000", "authors": "Boada J, Roig T, Perez X, Gamez A, Bartrons R, Cascante M, Bermudez J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "11034341", "url": "https://glygen.org/publication/PubMed/11034341" } ] }, { "title": "Modulation of the neuronal glutamate transporter EAAC1 by the interacting protein GTRAP3-18.", "journal": "Nature", "date": "2001", "authors": "Lin CI, Orlov I, Ruggiero AM, Dykes-Hoberg M, Lee A, Jackson M, Rothstein JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "11242046", "url": "https://glygen.org/publication/PubMed/11242046" } ] }, { "title": "Structures and proton-pumping strategies of mitochondrial respiratory enzymes.", "journal": "Annual review of biophysics and biomolecular structure", "date": "2001", "authors": "Schultz BE, Chan SI", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "11340051", "url": "https://glygen.org/publication/PubMed/11340051" } ] }, { "title": "Growth factors can influence cell growth and survival through effects on glucose metabolism.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Vander Heiden MG, Plas DR, Rathmell JC, Fox CJ, Harris MH, Thompson CB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "11486029", "url": "https://glygen.org/publication/PubMed/11486029" } ] }, { "title": "Regulation of PTEN transcription by p53.", "journal": "Molecular cell", "date": "2001", "authors": "Stambolic V, MacPherson D, Sas D, Lin Y, Snow B, Jang Y, Benchimol S, Mak TW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "11545734", "url": "https://glygen.org/publication/PubMed/11545734" } ] }, { "title": "Glutamine uptake by neurons: interaction of protons with system a transporters.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": 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"https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.", "journal": "JAMA neurology", "date": "2019", "authors": "Rumping L, Buttner B, Maier O, Rehmann H, Lequin M, Schlump JU, Schmitt B, Schiebergen-Bronkhorst B, Prinsen HCMT, Losa M, Fingerhut R, Lemke JR, Zwartkruis FJT, Houwen RHJ, Jans JJM, Verhoeven-Duif NM, van Hasselt PM, Jamra R", "evidence": [ { "database": "UniProtKB", "id": "O94925", "url": "https://www.uniprot.org/uniprot/O94925" } ], "reference": [ { "type": "PubMed", "id": "30575854", "url": "https://glygen.org/publication/PubMed/30575854" } ] }, { "title": "Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.", "journal": "The New England journal of medicine", "date": "2019", "authors": "van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Drogemoller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, 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"https://www.uniprot.org/uniprot/O94925" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O94925", "url": "https://www.uniprot.org/uniprot/O94925" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "O94925", "url": "https://www.uniprot.org/uniprot/O94925" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O94925", "url": "https://www.uniprot.org/uniprot/O94925" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "O94925", "url": "https://www.uniprot.org/uniprot/O94925" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "glutaminase activity", "id": "GO:0004359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004359", "evidence": [ { "database": "UniProtKB", "id": "O94925", "url": "https://www.uniprot.org/uniprot/O94925" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "glutaminase kidney isoform, mitochondrial N-glycosylated 1 (human)", "definition": "A glutaminase kidney isoform, mitochondrial (human) that has been N-glycosylated at the residue equivalent to Asn-620 of the amino acid sequence represented by UniProtKB:O94925-1, in which the glycan composition is represented by GlyTouCan:G27947YN. Example: UniProtKB:O94925-1, Asn-620, MOD:00160~GNO:G27947YN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000050891", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050891" } ] }, { "name": "glutaminase kidney isoform, mitochondrial N-glycosylated 2 (human)", "definition": "A glutaminase kidney isoform, mitochondrial (human) that has been N-glycosylated at the residue equivalent to Asn-620 of the amino acid sequence represented by UniProtKB:O94925-1, in which the glycan composition is represented by GlyTouCan:G36670VW. Example: UniProtKB:O94925-1, Asn-620, MOD:00160~GNO:G36670VW. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000050892", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050892" } ] }, { "name": "glutaminase kidney isoform, mitochondrial N-glycosylated 3 (human)", "definition": "A glutaminase kidney isoform, mitochondrial (human) that has been N-glycosylated at the residue equivalent to Asn-620 of the amino acid sequence represented by UniProtKB:O94925-1, in which the glycan composition is represented by GlyTouCan:G83646BJ. Example: UniProtKB:O94925-1, Asn-620, MOD:00160~GNO:G83646BJ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000050893", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050893" } ] } ], "site_annotation": [ { "start_pos": 375, "end_pos": 377, "annotation": "n_glycosylation_sequon" }, { "start_pos": 620, "end_pos": 622, "annotation": "n_glycosylation_sequon" }, { "start_pos": 658, "end_pos": 660, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "15889", "name": "", "equation": "H2O + L-glutamine = L-glutamate + NH4(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P28492-1", "P13264-1", "O94925-1", "Q9UI32-1", "P27708-1", "D3Z7P3-1", "Q571F8-1", "B2RQC6-1", "P33734-1", "Q03144-1", "P43544-1", "P53823-1", "P07259-1", "P07258-1", "Q54DN5-1", "Q54J48-1", "P20054-1", "Q1RL13-1", "P05990-1" ], "evidence": [ { "id": "15889", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/15889" } ] }, { "id": "R-HSA-70609", "name": "glutamine + H2O => glutamate + NH4+ [GLS]", "equation": "", "summary": "Mitochondrial glutaminase (GLS) catalyzes the hydrolysis of glutamine to yield glutamate and ammonia. Two GLS enzymes have been identified, one abundantly expressed in the liver (GLS - Elgadi et al. 1999) and one abundantly expressed in kidney (GLS2 - Gomez-Fabre et al. 2000). Their biochemical properties are similar. The enzymes are inferred to function as dimers based on unpublished crystallographic data for GLS (PDB 3CZD) and studies of glutaminase enzyme purified from Ehrlich Ascites cells (Quesada et al. 1988).", "cellular_location": "mitochondrial matrix", "input_participant_list": [ "R-ALL-113522" ], "output_participant_list": [], "enzyme_list": [ "O94925-1", "Q9UI32-1" ], "evidence": [ { "id": "R-HSA-70609", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70609" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-113522", "participant_name": "L-Gln [mitochondrial matrix]", "crossref": [ { "id": "58359", "database": "ChEBI", "url": "" }, { "id": "000001532526", "database": "ZINC", "url": "" }, { "id": "C00064", "database": "COMPOUND", "url": "" }, { "id": "C00064", "database": "COMPOUND", "url": "" }, { "id": "58359", "database": "ChEBI", "url": "" }, { "id": "000001532526", "database": "ZINC", "url": "" }, { "id": "C00064", "database": "COMPOUND", "url": "" }, { "id": "58359", "database": "ChEBI", "url": "" }, { "id": "000001532526", "database": "ZINC", "url": "" }, { "id": "C00064", "database": "COMPOUND", "url": "" }, { "id": "000001532526", "database": "ZINC", "url": "" }, { "id": "58359", "database": "ChEBI", "url": "" }, { "id": "C00064", "database": "COMPOUND", "url": "" }, { "id": "000001532526", "database": "ZINC", "url": "" }, { "id": "58359", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "B2RQC6", "gene_name": "Cad", "activity": [ { "ec_number": "6.3.5.5", "activity": "2 ATP + H2O + hydrogencarbonate + L-glutamine = 2 ADP + carbamoyl phosphate + 2 H(+) + L-glutamate + phosphate.", "evidence": [ { "id": "B2RQC6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RQC6" } ] }, { "ec_number": "2.1.3.2", "activity": "carbamoyl phosphate + L-aspartate = H(+) + N-carbamoyl-L-aspartate + phosphate.", "evidence": [ { "id": "B2RQC6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RQC6" } ] }, { "ec_number": "3.5.2.3", "activity": "(S)-dihydroorotate + H2O = H(+) + N-carbamoyl-L-aspartate.", "evidence": [ { "id": "B2RQC6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RQC6" } ] }, { "ec_number": "6.3.4.16", "activity": "2 ATP + hydrogencarbonate + NH4(+) = 2 ADP + carbamoyl phosphate + 2 H(+) + phosphate.", "evidence": [ { "id": "B2RQC6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RQC6" } ] }, { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "B2RQC6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RQC6" } ] }, { "ec_number": "6.3.5.5", "activity": "", "evidence": [ { "id": "B2RQC6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RQC6" } ] }, { "ec_number": "3.5.2.3", "activity": "", "evidence": [ { "id": "B2RQC6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RQC6" } ] }, { "ec_number": "2.1.3.2", "activity": "", "evidence": [ { "id": "B2RQC6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RQC6" } ] } ] }, { "uniprot_ac": "D3Z7P3", "gene_name": "Gls", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "D3Z7P3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3Z7P3" } ] }, { "ec_number": "3.5.1.2", "activity": "", "evidence": [ { "id": "D3Z7P3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3Z7P3" } ] } ] }, { "uniprot_ac": "O94925", "gene_name": "GLS", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "O94925", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94925" } ] }, { "ec_number": "3.5.1.2", "activity": "", "evidence": [ { "id": "O94925", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94925" } ] } ] }, { "uniprot_ac": "P05990", "gene_name": "r", "activity": [ { "ec_number": "2.1.3.2", "activity": "carbamoyl phosphate + L-aspartate = H(+) + N-carbamoyl-L-aspartate + phosphate.", "evidence": [ { "id": "P05990", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05990" } ] }, { "ec_number": "3.5.2.3", "activity": "(S)-dihydroorotate + H2O = H(+) + N-carbamoyl-L-aspartate.", "evidence": [ { "id": "P05990", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05990" } ] }, { "ec_number": "6.3.5.5", "activity": "2 ATP + H2O + hydrogencarbonate + L-glutamine = 2 ADP + carbamoyl phosphate + 2 H(+) + L-glutamate + phosphate.", "evidence": [ { "id": "P05990", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05990" } ] }, { "ec_number": "3.5.2.3", "activity": "", "evidence": [ { "id": "P05990", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05990" } ] }, { "ec_number": "6.3.5.5", "activity": "", "evidence": [ { "id": "P05990", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05990" } ] }, { "ec_number": "2.1.3.2", "activity": "", "evidence": [ { "id": "P05990", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05990" } ] }, { "ec_number": "6.3.4.16", "activity": "2 ATP + hydrogencarbonate + NH4(+) = 2 ADP + carbamoyl phosphate + 2 H(+) + phosphate.", "evidence": [ { "id": "P05990", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05990" } ] }, { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "P05990", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05990" } ] } ] }, { "uniprot_ac": "P07258", "gene_name": "CPA1", "activity": [ { "ec_number": "6.3.5.5", "activity": "2 ATP + H2O + hydrogencarbonate + L-glutamine = 2 ADP + carbamoyl phosphate + 2 H(+) + L-glutamate + phosphate.", "evidence": [ { "id": "P07258", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07258" } ] }, { "ec_number": "6.3.5.5", "activity": "", "evidence": [ { "id": "P07258", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07258" } ] } ] }, { "uniprot_ac": "P07259", "gene_name": "URA2", "activity": [ { "ec_number": "6.3.5.5", "activity": "2 ATP + H2O + hydrogencarbonate + L-glutamine = 2 ADP + carbamoyl phosphate + 2 H(+) + L-glutamate + phosphate.", "evidence": [ { "id": "P07259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07259" } ] }, { "ec_number": "6.3.4.16", "activity": "2 ATP + hydrogencarbonate + NH4(+) = 2 ADP + carbamoyl phosphate + 2 H(+) + phosphate.", "evidence": [ { "id": "P07259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07259" } ] }, { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "P07259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07259" } ] }, { "ec_number": "2.1.3.2", "activity": "carbamoyl phosphate + L-aspartate = H(+) + N-carbamoyl-L-aspartate + phosphate.", "evidence": [ { "id": "P07259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07259" } ] } ] }, { "uniprot_ac": "P13264", "gene_name": "Gls", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "P13264", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13264" } ] }, { "ec_number": "3.5.1.2", "activity": "", "evidence": [ { "id": "P13264", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13264" } ] } ] }, { "uniprot_ac": "P20054", "gene_name": "pyr1-3", "activity": [ { "ec_number": "6.3.5.5", "activity": "2 ATP + H2O + hydrogencarbonate + L-glutamine = 2 ADP + carbamoyl phosphate + 2 H(+) + L-glutamate + phosphate.", "evidence": [ { "id": "P20054", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20054" } ] }, { "ec_number": "2.1.3.2", "activity": "carbamoyl phosphate + L-aspartate = H(+) + N-carbamoyl-L-aspartate + phosphate.", "evidence": [ { "id": "P20054", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20054" } ] }, { "ec_number": "3.5.2.3", "activity": "(S)-dihydroorotate + H2O = H(+) + N-carbamoyl-L-aspartate.", "evidence": [ { "id": "P20054", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20054" } ] }, { "ec_number": "6.3.4.16", "activity": "2 ATP + hydrogencarbonate + NH4(+) = 2 ADP + carbamoyl phosphate + 2 H(+) + phosphate.", "evidence": [ { "id": "P20054", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20054" } ] }, { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "P20054", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20054" } ] } ] }, { "uniprot_ac": "P27708", "gene_name": "CAD", "activity": [ { "ec_number": "2.1.3.2", "activity": "carbamoyl phosphate + L-aspartate = H(+) + N-carbamoyl-L-aspartate + phosphate.", "evidence": [ { "id": "P27708", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27708" } ] }, { "ec_number": "3.5.2.3", "activity": "(S)-dihydroorotate + H2O = H(+) + N-carbamoyl-L-aspartate.", "evidence": [ { "id": "P27708", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27708" } ] }, { "ec_number": "6.3.5.5", "activity": "2 ATP + H2O + hydrogencarbonate + L-glutamine = 2 ADP + carbamoyl phosphate + 2 H(+) + L-glutamate + phosphate.", "evidence": [ { "id": "P27708", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27708" } ] }, { "ec_number": "2.1.3.2", "activity": "", "evidence": [ { "id": "P27708", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27708" } ] }, { "ec_number": "6.3.5.5", "activity": "", "evidence": [ { "id": "P27708", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27708" } ] }, { "ec_number": "3.5.2.3", "activity": "", "evidence": [ { "id": "P27708", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27708" } ] }, { "ec_number": "6.3.4.16", "activity": "2 ATP + hydrogencarbonate + NH4(+) = 2 ADP + carbamoyl phosphate + 2 H(+) + phosphate.", "evidence": [ { "id": "P27708", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27708" } ] }, { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "P27708", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27708" } ] } ] }, { "uniprot_ac": "P28492", "gene_name": "Gls2", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "P28492", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28492" } ] }, { "ec_number": "3.5.1.2", "activity": "", "evidence": [ { "id": "P28492", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28492" } ] } ] }, { "uniprot_ac": "P33734", "gene_name": "HIS7", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "P33734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33734" } ] }, { "ec_number": "4.3.2.10", "activity": "5-[(5-phospho-1-deoxy-D-ribulos-1-ylimino)methylamino]-1-(5-phospho-beta-D-ribosyl)imidazole-4-carboxamide + L-glutamine = 5-amino-1-(5-phospho-beta-D-ribosyl)imidazole-4-carboxamide + D-erythro-1-(imidazol-4-yl)glycerol 3-phosphate + H(+) + L-glutamate.", "evidence": [ { "id": "P33734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33734" } ] }, { "ec_number": "4.3.2.10", "activity": "", "evidence": [ { "id": "P33734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33734" } ] } ] }, { "uniprot_ac": "P43544", "gene_name": "SNO3", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "P43544", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43544" } ] }, { "ec_number": "4.3.3.6", "activity": "aldehydo-D-ribose 5-phosphate + D-glyceraldehyde 3-phosphate + L-glutamine = H(+) + 3 H2O + L-glutamate + phosphate + pyridoxal 5'-phosphate.", "evidence": [ { "id": "P43544", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43544" } ] }, { "ec_number": "4.3.3.6", "activity": "", "evidence": [ { "id": "P43544", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43544" } ] } ] }, { "uniprot_ac": "P53823", "gene_name": "SNO2", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "P53823", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53823" } ] }, { "ec_number": "4.3.3.6", "activity": "aldehydo-D-ribose 5-phosphate + D-glyceraldehyde 3-phosphate + L-glutamine = H(+) + 3 H2O + L-glutamate + phosphate + pyridoxal 5'-phosphate.", "evidence": [ { "id": "P53823", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53823" } ] }, { "ec_number": "4.3.3.6", "activity": "", "evidence": [ { "id": "P53823", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53823" } ] } ] }, { "uniprot_ac": "Q03144", "gene_name": "SNO1", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "Q03144", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q03144" } ] }, { "ec_number": "4.3.3.6", "activity": "aldehydo-D-ribose 5-phosphate + D-glyceraldehyde 3-phosphate + L-glutamine = H(+) + 3 H2O + L-glutamate + phosphate + pyridoxal 5'-phosphate.", "evidence": [ { "id": "Q03144", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q03144" } ] }, { "ec_number": "4.3.3.6", "activity": "", "evidence": [ { "id": "Q03144", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q03144" } ] } ] }, { "uniprot_ac": "Q1RL13", "gene_name": "GLS", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "Q1RL13", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q1RL13" } ] }, { "ec_number": "3.5.1.2", "activity": "", "evidence": [ { "id": "Q1RL13", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q1RL13" } ] } ] }, { "uniprot_ac": "Q54DN5", "gene_name": "", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "Q54DN5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54DN5" } ] }, { "ec_number": "3.5.1.2", "activity": "", "evidence": [ { "id": "Q54DN5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54DN5" } ] } ] }, { "uniprot_ac": "Q54J48", "gene_name": "pdx2", "activity": [ { "ec_number": "3.5.1.2", "activity": "H2O + L-glutamine = L-glutamate + NH4(+).", "evidence": [ { "id": "Q54J48", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54J48" } ] }, { "ec_number": "4.3.3.6", "activity": 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