{ "uniprot_canonical_ac": "O75223-1", "uniprot_ac": "O75223", "uniprot_id": "GGCT_HUMAN", "mass": { "chemical_mass": 21008.0, "monoisotopic_mass": 21008.0 }, "refseq": { "ac": "NP_001186744", "name": "gamma-glutamylcyclotransferase isoform 2", "summary": "The protein encoded by this gene catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides, the penultimate step in glutathione catabolism, and may play a critical role in glutathione homeostasis. The encoded protein may also play a role in cell proliferation, and the expression of this gene is a potential marker for cancer. Pseudogenes of this gene are located on the long arm of chromosome 5 and the short arm of chromosomes 2 and 20. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186744" }, "gene_names": [ { "name": "GGCT", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75223", "id": "O75223" }, { "name": "C7orf24; CRF21; GCTG; GGC", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186744", "id": "NP_001186744" }, { "name": "C7orf24", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75223", "id": "O75223" }, { "name": "CRF21", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75223", "id": "O75223" }, { "name": "GGCT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186744", "id": "NP_001186744" } ], "protein_names": [ { "name": "Gamma-glutamylcyclotransferase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75223" }, { "name": "4.3.2.9", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75223" }, { "name": "Cytochrome c-releasing factor 21", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75223" }, { "name": "gamma -glutamyl cyclotransferase; cytochrome c-releasing factor 21", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186744", "id": "NP_001186744" }, { "name": "gamma-glutamylcyclotransferase isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186744", "id": "NP_001186744" } ], "function": [ { "annotation": "CRF21 might play an important role in the induction of apoptosis by GGO in leukemia U937 cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001186744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186744" }, { "database": "PubMed", "id": "16765912", "url": "https://glygen.org/publication/PubMed/16765912" } ] }, { "annotation": "Catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides and may play a significant role in glutathione homeostasis (PubMed:18515354). Induces release of cytochrome c from mitochondria with resultant induction of apoptosis (PubMed:16765912).", "evidence": [ { "database": "UniProtKB", "id": "O75223", "url": "https://www.uniprot.org/uniprot/O75223#function" }, { "database": "PubMed", "id": "16765912", "url": "https://glygen.org/publication/PubMed/16765912" }, { "database": "PubMed", "id": "18515354", "url": "https://glygen.org/publication/PubMed/18515354" } ] }, { "annotation": "Interaction of MRPL9 and GGCT Promotes Cell Proliferation and Migration by Activating the MAPK/ERK Pathway in Papillary Thyroid Cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001186744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186744" }, { "database": "PubMed", "id": "36233293", "url": "https://glygen.org/publication/PubMed/36233293" } ] }, { "annotation": "MiR-205-5p/GGCT Attenuates Growth and Metastasis of Papillary Thyroid Cancer by Regulating CD44.", "evidence": [ { "database": "RefSeq", "id": "NP_001186744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186744" }, { "database": "PubMed", "id": "35213720", "url": "https://glygen.org/publication/PubMed/35213720" } ] }, { "annotation": "MiR-877 inhibits the proliferation, migration, and invasion of osteosarcoma cells by targeting gamma-glutamylcyclotransferase.", "evidence": [ { "database": "RefSeq", "id": "NP_001186744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186744" }, { "database": "PubMed", "id": "34121038", "url": "https://glygen.org/publication/PubMed/34121038" } ] }, { "annotation": "Presence of extra electron density/ligands and conservation at the sequence and structure levels, it is likely that the cavity has a crucial role in the function of LOC79017 and its structural neighbors possibly as an active site or ligand-binding site", "evidence": [ { "database": "RefSeq", "id": "NP_001186744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186744" }, { "database": "PubMed", "id": "17932939", "url": "https://glygen.org/publication/PubMed/17932939" } ] }, { "annotation": "The GGCT gene is located on chromosome 7p14-15 and consists of four exons that span 8 kb, the primary sequence is 188 amino acids in length and is unlike any protein of known function Erratum:[J Biol Chem. 2008 Nov 14;283(46):32152]", "evidence": [ { "database": "RefSeq", "id": "NP_001186744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186744" }, { "database": "PubMed", "id": "18515354", "url": "https://glygen.org/publication/PubMed/18515354" } ] }, { "annotation": "The protein encoded by this gene catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides, the penultimate step in glutathione catabolism, and may play a critical role in glutathione homeostasis. The encoded protein may also play a role in cell proliferation, and the expression of this gene is a potential marker for cancer. Pseudogenes of this gene are located on the long arm of chromosome 5 and the short arm of chromosomes 2 and 20. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001186744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186744" } ] }, { "annotation": "[The expression of GGCT in the bladder urothelial cell carcinoma and its clinical significance].", "evidence": [ { "database": "RefSeq", "id": "NP_001186744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186744" }, { "database": "PubMed", "id": "34794221", "url": "https://glygen.org/publication/PubMed/34794221" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 105, "end_pos": 105, "sequence_org": "Y", "sequence_mut": "F", "comment": "Marked decrease in catalytic efficiency and specific activity.", "evidence": [ { "database": "UniProtKB", "id": "O75223", "url": "https://www.uniprot.org/uniprot/O75223" }, { "database": "PubMed", "id": "18515354", "url": "https://glygen.org/publication/PubMed/18515354" } ] }, { "start_pos": 125, "end_pos": 125, "sequence_org": "Y", "sequence_mut": "F", "comment": "Little or no change in reaction kinetics.", "evidence": [ { "database": "UniProtKB", "id": "O75223", "url": "https://www.uniprot.org/uniprot/O75223" }, { "database": "PubMed", "id": "18515354", "url": "https://glygen.org/publication/PubMed/18515354" } ] }, { "start_pos": 23, "end_pos": 23, "sequence_org": "G", "sequence_mut": "A", "comment": "Marked decrease in catalytic efficiency.", "evidence": [ { "database": "UniProtKB", "id": "O75223", "url": "https://www.uniprot.org/uniprot/O75223" }, { "database": "PubMed", "id": "18515354", "url": "https://glygen.org/publication/PubMed/18515354" } ] }, { "start_pos": 98, "end_pos": 98, "sequence_org": "E", "sequence_mut": "A", "comment": "Abolishes activity without altering structure.", "evidence": [ { "database": "UniProtKB", "id": "O75223", "url": "https://www.uniprot.org/uniprot/O75223" }, { "database": "PubMed", "id": "18515354", "url": "https://glygen.org/publication/PubMed/18515354" } ] }, { "start_pos": 98, "end_pos": 98, "sequence_org": "E", "sequence_mut": "Q", "comment": "Abolishes activity without altering structure.", "evidence": [ { "database": "UniProtKB", "id": "O75223", "url": "https://www.uniprot.org/uniprot/O75223" }, { "database": "PubMed", "id": "18515354", "url": "https://glygen.org/publication/PubMed/18515354" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "93.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006625", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006625" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "96.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006625", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006625" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "89.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006625", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006625" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "94.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006625", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006625" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "89.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006625", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006625" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006625", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006625" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "94.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006625", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006625" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "93.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006625", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006625" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006625", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006625" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "87.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006625", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006625" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "87.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006625", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006625" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "92.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006625", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006625" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "95.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006625", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006625" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75223", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75223" } ], "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 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - 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": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75223", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75223" } ], "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": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant 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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75223", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75223" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75223", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75223" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75223", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75223" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75223", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75223" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75223", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75223" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75223", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75223" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75223" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O75223", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75223" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"B8ZZK2", "url": "https://www.uniprot.org/uniprot/B8ZZK2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B8ZZK2-1", "url": "https://www.uniprot.org/uniprot/B8ZZK2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZK5", "url": "https://www.uniprot.org/uniprot/H7BZK5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZK5-1", "url": "https://www.uniprot.org/uniprot/H7BZK5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75223", "url": "https://www.uniprot.org/uniprot/O75223", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75223-1", "url": "https://www.uniprot.org/uniprot/O75223-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75223-2", "url": "https://www.uniprot.org/uniprot/O75223-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75223-3", "url": "https://www.uniprot.org/uniprot/O75223-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75223-4", "url": "https://www.uniprot.org/uniprot/O75223-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MANSGCKDVTGPDEESFLYFAYGSNLLTERIHLRNPSAAFFCVARLQDFKLDFGNSQGKTSQTWHGGIATIFQSPGDEVWGVVWKMNKSNLNSLDEQEGVKSGMYVVIEVKVATQEGKEITCRSYLMTNYESAPPSPQYKKIICMGAKENGLPLEYQEKLKAIEPNDYTGKVSEEIEDIIKKGETQTL", "length": 188, "header": "sp|O75223-1|GGCT_HUMAN Isoform 1 of Gamma-glutamylcyclotransferase OS=Homo sapiens OX=9606 GN=GGCT PE=1 SV=1 CANONICAL=O75223-1" }, "isoforms": [ { "isoform_ac": "A0A0B4J1Y4-1", "url": "", "sequence": { "sequence": "MANSGCKDVTGPDEESFLYFAYGSNLLTERIHLRNPSAAFFCVARLQARRG", "length": 51, "header": "tr|A0A0B4J1Y4-1|GGCT_HUMAN Computationally mapped isoform of Gamma-glutamylcyclotransferase OS=Homo sapiens OX=9606 GN=GGCT PE=1 SV=1 CANONICAL=O75223-1" }, "locus": { "chromosome": "7", "start_pos": 30504709, "end_pos": 30498927, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000440082.5", "url": "https://www.ensembl.org/id/ENST00000440082.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000408015.1", "url": "https://www.ensembl.org/id/ENSP00000408015.1" } ] } }, { "isoform_ac": "B8ZZK2-1", "url": "", "sequence": { "sequence": "MANSGCKDVTGPDEESFLYFAYGSNLLTERIHLRNPSAAFFCVARLQDFKLDFGNSQGKTSQTWHGGIATIFQSPGDEVWGVVWKMNKSNLNSLDEQEGVKSGMYVVIEVKVATQEGKEITCRSYLMTNYESAPPSPQYKKVEKETSHCLSESGKSPLQAQDKNVG", "length": 166, "header": "tr|B8ZZK2-1|GGCT_HUMAN Computationally mapped isoform of Gamma-glutamylcyclotransferase OS=Homo sapiens OX=9606 GN=GGCT PE=1 SV=1 CANONICAL=O75223-1" }, "locus": { "chromosome": "7", "start_pos": 30504709, "end_pos": 30497822, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409436.2", "url": "https://www.ensembl.org/id/ENST00000409436.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000386686.1", "url": "https://www.ensembl.org/id/ENSP00000386686.1" } ] } }, { "isoform_ac": "H7BZK5-1", "url": "", "sequence": { "sequence": "XFKLDFGNSQGKTSQTWHGGIATIFQSPGDEVWGVVWKMNKSNLNSLDEQEGVKSGMYVVIEVKVATQEGKEITCRSYLMTNYESAPPSPQYKKVEKETSHCLSESGKSPLQAQDKNVG", "length": 119, "header": "tr|H7BZK5-1|H7BZK5_HUMAN Computationally mapped isoform of gamma-glutamylcyclotransferase OS=Homo sapiens OX=9606 GN=GGCT PE=1 SV=1 CANONICAL=O75223-1" }, "locus": { "chromosome": "7", "start_pos": 30500680, "end_pos": 30497821, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000426081.5", "url": "https://www.ensembl.org/id/ENST00000426081.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000390094.1", "url": "https://www.ensembl.org/id/ENSP00000390094.1" } ] } }, { "isoform_ac": "O75223-1", "url": "", "sequence": { "sequence": "MANSGCKDVTGPDEESFLYFAYGSNLLTERIHLRNPSAAFFCVARLQDFKLDFGNSQGKTSQTWHGGIATIFQSPGDEVWGVVWKMNKSNLNSLDEQEGVKSGMYVVIEVKVATQEGKEITCRSYLMTNYESAPPSPQYKKIICMGAKENGLPLEYQEKLKAIEPNDYTGKVSEEIEDIIKKGETQTL", "length": 188, "header": "sp|O75223-1|GGCT_HUMAN Isoform 1 of Gamma-glutamylcyclotransferase OS=Homo sapiens OX=9606 GN=GGCT PE=1 SV=1 CANONICAL=O75223-1" }, "locus": { "chromosome": "7", "start_pos": 30504709, "end_pos": 30497095, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000275428.9", "url": "https://www.ensembl.org/id/ENST00000275428.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000275428.4", "url": "https://www.ensembl.org/id/ENSP00000275428.4" } ] } }, { "isoform_ac": "O75223-2", "url": "", "sequence": { "sequence": "MANSGCKDVTGPDEESFLYFAYGSNLLTERIHLRNPSAAFFCVARLQDFKLDFGNSQGKTSQTWHGGIATIFQSPGDEVWGVVWKMNKSNLNSLDELFAWVQKKMVCRWSIKRS", "length": 114, "header": "sp|O75223-2|GGCT_HUMAN Isoform 2 of Gamma-glutamylcyclotransferase OS=Homo sapiens OX=9606 GN=GGCT PE=1 SV=1 CANONICAL=O75223-1" }, "locus": { "chromosome": "7", "start_pos": 30504709, "end_pos": 30497181, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000005374.10", "url": "https://www.ensembl.org/id/ENST00000005374.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000005374.6", "url": "https://www.ensembl.org/id/ENSP00000005374.6" } ] } }, { "isoform_ac": "O75223-3", "url": "", "sequence": { "sequence": "MANSGCKDVTGPDEESFLYFAYGSNLLTERIHLRNPSAAFFCVARLQIICMGAKENGLPLEYQEKLKAIEPNDYTGKVSEEIEDIIKKGETQTL", "length": 94, "header": "sp|O75223-3|GGCT_HUMAN Isoform 3 of Gamma-glutamylcyclotransferase OS=Homo sapiens OX=9606 GN=GGCT PE=1 SV=1 CANONICAL=O75223-1" }, "locus": { "chromosome": "7", "start_pos": 30504709, "end_pos": 30497095, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409144.5", "url": "https://www.ensembl.org/id/ENST00000409144.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000386610.1", "url": "https://www.ensembl.org/id/ENSP00000386610.1" } ] } }, { "isoform_ac": "O75223-4", "url": "", "sequence": { "sequence": "MANSGCKDVTGPDEESFLYFAYGSNLLTERIHLRNPSAAFFCVARLQDFKLDFGNSQGKTSQTWHGGIATIFQSPGDEVWGVVWKMNKSNLNSLDEWRKKRHTAFQNQGNHPCKHKTRMWDRDPKIPVQNLSLALCWQAQSGHGTCNRLFAWVQKKMVCRWSIKRS", "length": 166, "header": "sp|O75223-4|GGCT_HUMAN Isoform 4 of Gamma-glutamylcyclotransferase OS=Homo sapiens OX=9606 GN=GGCT PE=1 SV=1 CANONICAL=O75223-1" }, "locus": { "chromosome": "7", "start_pos": 30504709, "end_pos": 30497181, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409390.5", "url": "https://www.ensembl.org/id/ENST00000409390.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000387235.1", "url": "https://www.ensembl.org/id/ENSP00000387235.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75223", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75223" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "26374642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26374642" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" } ] } ], "phosphorylation": [ { "start_pos": 173, "end_pos": 173, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75223", "url": "https://www.uniprot.org/uniprot/O75223" } ], "site_lbl": "Ser173" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Molecular basis of glutathione synthetase deficiency and a rare gene permutation event.", "journal": "The EMBO journal", "date": "1999", "authors": "Polekhina G, Board PG, Gali RR, Rossjohn J, Parker MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "10369661", "url": "https://glygen.org/publication/PubMed/10369661" } ] }, { "title": "Sequence identification and characterization of human carnosinase and a closely related non-specific dipeptidase.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Teufel M, Saudek V, Ledig JP, Bernhardt A, Boularand S, Carreau A, Cairns NJ, Carter C, Cowley DJ, Duverger D, Ganzhorn AJ, Guenet C, Heintzelmann B, Laucher V, Sauvage C, Smirnova T", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "12473676", "url": "https://glygen.org/publication/PubMed/12473676" } ] }, { "title": "A novel 21-kDa cytochrome c-releasing factor is generated upon treatment of human leukemia U937 cells with geranylgeraniol.", "journal": "Biochemical and biophysical research communications", "date": "2006", "authors": "Masuda Y, Maeda S, Watanabe A, Sano Y, Aiuchi T, Nakajo S, Itabe H, Nakaya K", "evidence": [ { "database": "UniProtKB", "id": "O75223", "url": "https://www.uniprot.org/uniprot/O75223" }, { "database": "RefSeq", "id": "NP_001186744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186744" } ], "reference": [ { "type": "PubMed", "id": "16765912", "url": "https://glygen.org/publication/PubMed/16765912" } ] }, { "title": "Kinetic characterization and identification of the acylation and glycosylation sites of recombinant human gamma-glutamyltranspeptidase.", "journal": "Biochemistry", "date": "2007", "authors": "Castonguay R, Halim D, Morin M, Furtos A, Lherbet C, Bonneil E, Thibault P, Keillor JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "17924658", "url": "https://glygen.org/publication/PubMed/17924658" } ] }, { "title": "Crystal structure of Homo sapiens protein LOC79017.", "journal": "Proteins", "date": "2008", "authors": "Bae E, Bingman CA, Aceti DJ, Phillips GN Jr", "evidence": [ { "database": "UniProtKB", "id": "O75223", "url": "https://www.uniprot.org/uniprot/O75223" }, { "database": "RefSeq", "id": "NP_001186744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186744" } ], "reference": [ { "type": "PubMed", "id": "17932939", "url": "https://glygen.org/publication/PubMed/17932939" } ] }, { "title": "The human gamma-glutamyltransferase gene family.", "journal": "Human genetics", "date": "2008", "authors": "Heisterkamp N, Groffen J, Warburton D, Sneddon TP", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "18357469", "url": "https://glygen.org/publication/PubMed/18357469" } ] }, { "title": "The identification and structural characterization of C7orf24 as gamma-glutamyl cyclotransferase. An essential enzyme in the gamma-glutamyl cycle.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Oakley AJ, Yamada T, Liu D, Coggan M, Clark AG, Board PG", "evidence": [ { "database": "UniProtKB", "id": "O75223", "url": "https://www.uniprot.org/uniprot/O75223" }, { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" }, { "database": "RefSeq", "id": "NP_001186744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186744" } ], "reference": [ { "type": "PubMed", "id": "18515354", "url": "https://glygen.org/publication/PubMed/18515354" } ] }, { "title": "CHAC1/MGC4504 is a novel proapoptotic component of the unfolded protein response, downstream of the ATF4-ATF3-CHOP cascade.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2009", "authors": "Mungrue IN, Pagnon J, Kohannim O, Gargalovic PS, Lusis AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "19109178", "url": "https://glygen.org/publication/PubMed/19109178" } ] }, { "title": "Human kidney gamma-glutamyl transpeptidase. Catalytic properties, subunit structure, and localization of the gamma-glutamyl binding site on the light subunit.", "journal": "The Journal of biological chemistry", "date": "1977", "authors": "Tate SS, Ross ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "19463", "url": "https://glygen.org/publication/PubMed/19463" } ] }, { "title": "Autocatalytic cleavage of human gamma-glutamyl transpeptidase is highly dependent on N-glycosylation at asparagine 95.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "West MB, Wickham S, Quinalty LM, Pavlovicz RE, Li C, Hanigan MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "21712391", "url": "https://glygen.org/publication/PubMed/21712391" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75223", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75223" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Human GGT2 does not autocleave into a functional enzyme: A cautionary tale for interpretation of microarray data on redox signaling.", "journal": "Antioxidants & redox signaling", "date": "2013", "authors": "West MB, Wickham S, Parks EE, Sherry DM, Hanigan MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "23682772", "url": "https://glygen.org/publication/PubMed/23682772" } ] }, { "title": "Different gamma-glutamyl transpeptidase mRNAs are expressed in human liver and kidney.", "journal": "Biochemical and biophysical research communications", "date": "1989", "authors": "Pawlak A, Wu SJ, Bulle F, Suzuki A, Chikhi N, Ferry N, Baik JH, Siegrist S, Guellaen G", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "2573352", "url": "https://glygen.org/publication/PubMed/2573352" } ] }, { "title": "Human CHAC1 Protein Degrades Glutathione, and mRNA Induction Is Regulated by the Transcription Factors ATF4 and ATF3 and a Bipartite ATF/CRE Regulatory Element.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Crawford RR, Prescott ET, Sylvester CF, Higdon AN, Shan J, Kilberg MS, Mungrue IN", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "25931127", "url": "https://glygen.org/publication/PubMed/25931127" } ] }, { "title": "Proteomic analysis of O-GlcNAcylated proteins in invasive ductal breast carcinomas with and without lymph node metastasis.", "journal": "Amino acids", "date": "2016", "authors": "Jiang K, Gao Y, Hou W, Tian F, Ying W, Li L, Bai B, Hou G, Wang PG, Zhang L", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75223", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75223" } ], "reference": [ { "type": "PubMed", "id": "26374642", "url": "https://glygen.org/publication/PubMed/26374642" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75223", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75223" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "miR-877 inhibits the proliferation, migration, and invasion of osteosarcoma cells by targeting gamma-glutamylcyclotransferase.", "journal": "Endocrine journal", "date": "2021", "authors": "Jia C, Gao J, Wang L, Li Z, Dong Z, Yao L, Yao X", "evidence": [ { "database": "RefSeq", "id": "NP_001186744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186744" } ], "reference": [ { "type": "PubMed", "id": "34121038", "url": "https://glygen.org/publication/PubMed/34121038" } ] }, { "title": "[The expression of GGCT in the bladder urothelial cell carcinoma and its clinical significance].", "journal": "Zhonghua zhong liu za zhi [Chinese journal of oncology]", "date": "2021", "authors": "Guo YS, Wu YD, Ma H, Qi L, Zhang SD, Zang YJ", "evidence": [ { "database": "RefSeq", "id": "NP_001186744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186744" } ], "reference": [ { "type": "PubMed", "id": "34794221", "url": "https://glygen.org/publication/PubMed/34794221" } ] }, { "title": "MiR-205-5p/GGCT Attenuates Growth and Metastasis of Papillary Thyroid Cancer by Regulating CD44.", "journal": "Endocrinology", "date": "2022", "authors": "Li HN, Zhang HM, Li XR, Wang J, Xu T, Li SY, Dong ML, Wang G, Cui XQ, Yang X, Wu YL, Liao XH, Du YY", "evidence": [ { "database": "RefSeq", "id": "NP_001186744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186744" } ], "reference": [ { "type": "PubMed", "id": "35213720", "url": "https://glygen.org/publication/PubMed/35213720" } ] }, { "title": "Interaction of MRPL9 and GGCT Promotes Cell Proliferation and Migration by Activating the MAPK/ERK Pathway in Papillary Thyroid Cancer.", "journal": "International journal of molecular sciences", "date": "2022-10-09", "authors": "Zhang Hui-Min, Li Zi-Yi, Dai Zhou-Tong, Wang Jun, Li Le-Wei, Zong Qi-Bei, Li Jia-Peng, Zhang Tong-Cun, Liao Xing-Hua", "evidence": [ { "database": "RefSeq", "id": "NP_001186744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186744" } ], "reference": [ { "type": "PubMed", "id": "36233293", "url": "https://glygen.org/publication/PubMed/36233293" } ] }, { "title": "Sequencing and expression of a cDNA for human glutathione synthetase.", "journal": "The Biochemical journal", "date": "1995", "authors": "Gali RR, Board PG", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "7646467", "url": "https://glygen.org/publication/PubMed/7646467" } ] }, { "title": "Cloning 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"url": "https://glygen.org/publication/PubMed/8813074" } ] }, { "title": "Hydrolysis and transfer reactions catalyzed by gamma-glutamyl transpeptidase; evidence for separate substrate sites and for high affinity of L-cystine.", "journal": "Biochemical and biophysical research communications", "date": "1976", "authors": "Thompson GA, Meister A", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "9080", "url": "https://glygen.org/publication/PubMed/9080" } ] }, { "title": "Characterization of 5-oxo-L-prolinase in normal and tumor tissues of humans and rats: a potential new target for biochemical modulation of glutathione.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "1998", "authors": "Chen X, Schecter RL, Griffith OW, Hayward MA, Alpert LC, Batist G", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "9516961", "url": "https://glygen.org/publication/PubMed/9516961" } ] }, { "title": "Expression and purification of human gamma-glutamylcysteine synthetase.", "journal": "Protein expression and purification", "date": "1998", "authors": "Misra I, Griffith OW", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "9675072", "url": "https://glygen.org/publication/PubMed/9675072" } ] } ], "pathway": [ { "id": "hsa:79017", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:79017", "resource": "KEGG Pathway" }, { "id": "R-HSA-174403", "name": "Glutathione synthesis and recycling", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403", "resource": "Reactome", "description": "Glutathione synthesis and recycling" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZPV8-1", "protein_name": "Gamma-glutamyl cyclotransferase", "gene_name": "Ggct", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MASSDCEDHAGQEGETFLYFAYGSNLLTERIHLRNPSAVFCCVARLQDFKLDFGNFQGKMSERWHGGIATIFQSPGDEVWGVVWKMNKSNLSSLDEQEGVKSGVYVVIEIKVTTQQGKDITCRSYLMTNYERAPPSPQYKKVICMGAKENGLPLEYQEKLNVIEPNDYKGKISDEMEDIIKKGEAKLL", "length": 188 }, "evidence": [ { "id": "45924877", "url": "http://www.informatics.jax.org/homology/45924877", "database": "MGI" }, { "id": "O75223", "url": "https://omabrowser.org/oma/group/O75223/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9D7X8-1", "protein_name": "Gamma-glutamylcyclotransferase", "gene_name": "Ggct", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MASSDCEGHAGQEGETFLYFAYGSNLLTERIHLRNPSAVFCCVARLQDFKLDFGNFQGKMSERWHGGIATIFQSPGDEVWGVVWRMNKSNISSLDEQEGVKSGVYVVIEIKVSTREGKEITCRSYLMTNYESAPPSPQYKKVICMGAKENGLPQEYQEKLKAIEPNEYKGKISDEMEDIIKKGESKLS", "length": 188 }, "evidence": [ { "id": "45924877", "url": "http://www.informatics.jax.org/homology/45924877", "database": "MGI" }, { "id": "O75223", "url": "https://omabrowser.org/oma/group/O75223/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VVP9-1", "protein_name": "gamma-glutamylcyclotransferase", "gene_name": "Dmel\\CG4306", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MNYECLIGVLSCLLVALPKGNCHSISGLNSTLNLPEIRGDQFLYFGFGSNMLIKRIHIQNPSAVRIGPALLPDYRLDFALESAGWSGSVATIVPTQGDHVWGTLWKIDLSNLPDIDSQEGVSQGIYEPRTVYVKLHGESESTPARAYLLTKQPESNLYELPKDSIPLSRQPSKTYLQCLVKGAIESSVPEDYVQRLRSIKHNGQVNSYLERKLELGGVTL", "length": 220 }, "evidence": [ { "id": "O75223", "url": "https://omabrowser.org/oma/group/O75223/", "database": "OMA" } ], "common_name": 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