{ "uniprot_canonical_ac": "O95166-1", "uniprot_ac": "O95166", "uniprot_id": "GBRAP_HUMAN", "mass": { "chemical_mass": 13918.0, "monoisotopic_mass": 13918.0 }, "refseq": { "ac": "NP_009209", "name": "gamma-aminobutyric acid receptor-associated protein", "summary": "Gamma-aminobutyric acid A receptors [GABA(A) receptors] are ligand-gated chloride channels that mediate inhibitory neurotransmission. This gene encodes GABA(A) receptor-associated protein, which is highly positively charged in its N-terminus and shares sequence similarity with light chain-3 of microtubule-associated proteins 1A and 1B. This protein clusters neurotransmitter receptors by mediating interaction with the cytoskeleton. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009209" }, "gene_names": [ { "name": "GABARAP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95166", "id": "O95166" }, { "name": "ATG8A; GABARAP-a; MM46", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009209", "id": "NP_009209" }, { "name": "FLC3B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95166", "id": "O95166" }, { "name": "GABARAP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009209", "id": "NP_009209" }, { "name": "HT004", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95166", "id": "O95166" } ], "protein_names": [ { "name": "Gamma-aminobutyric acid receptor-associated protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95166" }, { "name": "GABA(A) receptor-associated protein; epididymis secretory sperm binding protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009209", "id": "NP_009209" }, { "name": "GABA(A) receptor-associated protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95166" }, { "name": "MM46", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95166" }, { "name": "gamma-aminobutyric acid receptor-associated protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009209", "id": "NP_009209" } ], "function": [ { "annotation": "ATG4B antagonizes antiviral immunity by GABARAP-directed autophagic degradation of TBK1.", "evidence": [ { "database": "RefSeq", "id": "NP_009209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009209" }, { "database": "PubMed", "id": "37434364", "url": "https://glygen.org/publication/PubMed/37434364" } ] }, { "annotation": "Gamma-aminobutyric acid A receptors [GABA(A) receptors] are ligand-gated chloride channels that mediate inhibitory neurotransmission. This gene encodes GABA(A) receptor-associated protein, which is highly positively charged in its N-terminus and shares sequence similarity with light chain-3 of microtubule-associated proteins 1A and 1B. This protein clusters neurotransmitter receptors by mediating interaction with the cytoskeleton. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_009209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009209" } ] }, { "annotation": "METTL3 promotes hyperoxia-induced pyroptosis in neonatal bronchopulmonary dysplasia by inhibiting ATG8-mediated autophagy. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_009209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009209" }, { "database": "PubMed", "id": "37478627", "url": "https://glygen.org/publication/PubMed/37478627" } ] }, { "annotation": "Microautophagy regulated by STK38 and GABARAPs is essential to repair lysosomes and prevent aging.", "evidence": [ { "database": "RefSeq", "id": "NP_009209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009209" }, { "database": "PubMed", "id": "37987447", "url": "https://glygen.org/publication/PubMed/37987447" } ] }, { "annotation": "Ubiquitin-like modifier that plays a role in intracellular transport of GABA(A) receptors and its interaction with the cytoskeleton (PubMed:9892355). Involved in autophagy: while LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation (PubMed:15169837, PubMed:20562859, PubMed:22948227). Through its interaction with the reticulophagy receptor TEX264, participates in the remodeling of subdomains of the endoplasmic reticulum into autophagosomes upon nutrient stress, which then fuse with lysosomes for endoplasmic reticulum turnover (PubMed:31006538). Also required for the local activation of the CUL3(KBTBD6/7) E3 ubiquitin ligase complex, regulating ubiquitination and degradation of TIAM1, a guanyl-nucleotide exchange factor (GEF) that activates RAC1 and downstream signal transduction (PubMed:25684205). Thereby, regulates different biological processes including the organization of the cytoskeleton, cell migration and proliferation (PubMed:25684205). Involved in apoptosis (PubMed:15977068).", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166#function" }, { "database": "PubMed", "id": "22948227", "url": "https://glygen.org/publication/PubMed/22948227" }, { "database": "PubMed", "id": "15977068", "url": "https://glygen.org/publication/PubMed/15977068" }, { "database": "PubMed", "id": "20562859", "url": "https://glygen.org/publication/PubMed/20562859" }, { "database": "PubMed", "id": "9892355", "url": "https://glygen.org/publication/PubMed/9892355" }, { "database": "PubMed", "id": "15169837", "url": "https://glygen.org/publication/PubMed/15169837" }, { "database": "PubMed", "id": "31006538", "url": "https://glygen.org/publication/PubMed/31006538" }, { "database": "PubMed", "id": "25684205", "url": "https://glygen.org/publication/PubMed/25684205" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 116, "end_pos": 116, "sequence_org": "G", "sequence_mut": "A", "comment": "Impairs localization at the autophagosomal membrane.", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" }, { "database": "PubMed", "id": "15169837", "url": "https://glygen.org/publication/PubMed/15169837" } ] }, { "start_pos": 24, "end_pos": 24, "sequence_org": "K", "sequence_mut": "Q", "comment": "No effect on WDFY3-binding. Impaired WDFY3-binding, but no effect on SQSTM1-binding; when associated with H-25 and H-54.", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" }, { "database": "PubMed", "id": "24668264", "url": "https://glygen.org/publication/PubMed/24668264" } ] }, { "start_pos": 25, "end_pos": 25, "sequence_org": "Y", "sequence_mut": "H", "comment": "No effect on WDFY3-binding. Impaired WDFY3-binding, but no effect on SQSTM1-binding; when associated with Q-24 and H-54.", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" }, { "database": "PubMed", "id": "24668264", "url": "https://glygen.org/publication/PubMed/24668264" } ] }, { "start_pos": 49, "end_pos": 50, "sequence_org": "YL", "sequence_mut": "AA", "comment": "Inhibits interaction with TECPR2.", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" }, { "database": "PubMed", "id": "20562859", "url": "https://glygen.org/publication/PubMed/20562859" } ] }, { "start_pos": 54, "end_pos": 54, "sequence_org": "D", "sequence_mut": "H", "comment": "No effect on WDFY3-binding. Impaired WDFY3-binding, but no effect on SQSTM1-binding; when associated with Q-24 and H-25.", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" }, { "database": "PubMed", "id": "24668264", "url": "https://glygen.org/publication/PubMed/24668264" } ] }, { "start_pos": 67, "end_pos": 67, "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on interaction with TECPR2.", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" }, { "database": "PubMed", "id": "20562859", "url": "https://glygen.org/publication/PubMed/20562859" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "99.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170296", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170296" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "99.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170296", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170296" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170296", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170296" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170296", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170296" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "99.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170296", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170296" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "99.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170296", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170296" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "98.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170296", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170296" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "99.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170296", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170296" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "99.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170296", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170296" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95166", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95166" } ], "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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95166", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95166" } ], "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", 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"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": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O95166", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95166" } ], "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 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95166", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95166" } ], "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": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O95166", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95166" } ], "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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"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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"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": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95166", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95166" } ], "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 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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": "O95166", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95166" } ], "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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95166" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"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": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O95166", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95166" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal 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receptor-associated protein OS=Homo sapiens OX=9606 GN=GABARAP PE=1 SV=1 CANONICAL=O95166-1" }, "isoforms": [ { "isoform_ac": "H6UMI1-1", "url": "", "sequence": { "sequence": "MKFVYKEEHPFEKRRSEGEKIRKKYPDRVPVIVEKAPKARIGDLDKKKYLVPSDLTVGQFYFLIRKRIHLRAEDALFFFVNNVIPPTSATMGQLYQVW", "length": 98, "header": "tr|H6UMI1-1|GBRAP_HUMAN Computationally mapped isoform of Gamma-aminobutyric acid receptor-associated protein OS=Homo sapiens OX=9606 GN=GABARAP PE=1 SV=1 CANONICAL=O95166-1" }, "locus": { "chromosome": "17", "start_pos": 7242330, "end_pos": 7241336, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000573928.1", "url": "https://www.ensembl.org/id/ENST00000573928.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000458476.1", "url": "https://www.ensembl.org/id/ENSP00000458476.1" } ] } }, { "isoform_ac": "I3L236-1", "url": "", "sequence": { "sequence": "MGQLYQEHHEEDFFLYIAYSDESVYGL", "length": 27, "header": "tr|I3L236-1|GBRAP_HUMAN Computationally mapped isoform of Gamma-aminobutyric acid receptor-associated protein OS=Homo sapiens OX=9606 GN=GABARAP PE=1 SV=1 CANONICAL=O95166-1" }, "locus": { "chromosome": "17", "start_pos": 7241359, "end_pos": 7240857, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000577035.5", "url": "https://www.ensembl.org/id/ENST00000577035.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000460855.1", "url": "https://www.ensembl.org/id/ENSP00000460855.1" } ] } }, { "isoform_ac": "I3L3J4-1", "url": "", "sequence": { "sequence": "MKFVYKEEHPFEKRRSEGEKIRKKYPDRVPLVSSTS", "length": 36, "header": "tr|I3L3J4-1|GBRAP_HUMAN Computationally mapped isoform of Gamma-aminobutyric acid receptor-associated protein OS=Homo sapiens OX=9606 GN=GABARAP PE=1 SV=1 CANONICAL=O95166-1" }, "locus": { "chromosome": "17", "start_pos": 7242330, "end_pos": 7241443, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000570856.1", "url": "https://www.ensembl.org/id/ENST00000570856.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000460489.1", "url": "https://www.ensembl.org/id/ENSP00000460489.1" } ] } }, { "isoform_ac": "O95166-1", "url": "", "sequence": { "sequence": "MKFVYKEEHPFEKRRSEGEKIRKKYPDRVPVIVEKAPKARIGDLDKKKYLVPSDLTVGQFYFLIRKRIHLRAEDALFFFVNNVIPPTSATMGQLYQEHHEEDFFLYIAYSDESVYGL", "length": 117, "header": "sp|O95166-1|GBRAP_HUMAN Isoform 1 of Gamma-aminobutyric acid receptor-associated protein OS=Homo sapiens OX=9606 GN=GABARAP PE=1 SV=1 CANONICAL=O95166-1" }, "locus": { "chromosome": "17", "start_pos": 7242330, "end_pos": 7240857, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000302386.10", "url": "https://www.ensembl.org/id/ENST00000302386.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000306866.5", "url": "https://www.ensembl.org/id/ENSP00000306866.5" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Characterization of GAPCenA, a GTPase activating protein for Rab6, part of which associates with the centrosome.", "journal": "The EMBO journal", "date": "1999", "authors": "Cuif MH, Possmayer F, Zander H, Bordes N, Jollivet F, Couedel-Courteille A, Janoueix-Lerosey I, Langsley G, Bornens M, Goud B", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854214", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854214" } ], "reference": [ { "type": "PubMed", "id": "10202141", "url": "https://glygen.org/publication/PubMed/10202141" } ] }, { "title": "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2000", "authors": "Hu R M, Han Z G, Song H D, Peng Y D, Huang Q H, Ren S X, Gu Y J, Huang C H, Li Y B, Jiang C L, Fu G, Zhang Q H, Gu B W, Dai M, Mao Y F, Gao G F, Rong R, Ye M, Zhou J, Xu S H, Gu J, Shi J X, Jin W R, Zhang C K, Wu T M, Huang G Y, Chen Z, Chen M D, Chen J L", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" } ], "reference": [ { "type": "PubMed", "id": "10931946", "url": "https://glygen.org/publication/PubMed/10931946" } ] }, { "title": "The human homolog of Saccharomyces cerevisiae Apg7p is a Protein-activating enzyme for multiple substrates including human Apg12p, GATE-16, GABARAP, and MAP-LC3.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Tanida I, Tanida-Miyake E, Ueno T, Kominami E", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" }, { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "11096062", "url": "https://glygen.org/publication/PubMed/11096062" } ] }, { "title": "Interaction of the Unc-51-like kinase and microtubule-associated protein light chain 3 related proteins in the brain: possible role of vesicular transport in axonal elongation.", "journal": "Brain Res. Mol. Brain Res.", "date": "2000", "authors": "Okazaki N, Yan J, Yuasa S, Ueno T, Kominami E, Masuho Y, Koga H, Muramatsu M", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" } ], "reference": [ { "type": "PubMed", "id": "11146101", "url": "https://glygen.org/publication/PubMed/11146101" } ] }, { "title": "The X-ray crystal structure and putative ligand-derived peptide binding properties of gamma-aminobutyric acid receptor type A receptor-associated protein.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Knight David, Harris Richard, McAlister Mark S B, Phelan John P, Geddes Stella, Moss Stephen J, Driscoll Paul C, Keep Nicholas H", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" } ], "reference": [ { "type": "PubMed", "id": "11729197", "url": "https://glygen.org/publication/PubMed/11729197" } ] }, { "title": "Human Apg3p/Aut1p homologue is an authentic E2 enzyme for multiple substrates, GATE-16, GABARAP, and MAP-LC3, and facilitates the conjugation of hApg12p to hApg5p.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Tanida I, Tanida-Miyake E, Komatsu M, Ueno T, Kominami E", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" }, { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "11825910", "url": "https://glygen.org/publication/PubMed/11825910" } ] }, { "title": "Solution structure of human GABA(A) receptor-associated protein GABARAP: implications for biological function and its regulation.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Stangler Thomas, Mayr Lorenz M, Willbold Dieter", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" } ], "reference": [ { "type": "PubMed", "id": "11875056", "url": "https://glygen.org/publication/PubMed/11875056" } ] }, { "title": "1H, 13C and '5N resonance assignments of GABARAP, GABAA receptor associated protein.", "journal": "J. Biomol. NMR", "date": "2002", "authors": "Kouno Takahide, Miura Kazunori, Kanematsu Takashi, Shirakawa Masahiro, Hirata Masato, Kawano Keiichi", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" } ], "reference": [ { "type": "PubMed", "id": "11885988", "url": "https://glygen.org/publication/PubMed/11885988" } ] }, { "title": "GATE-16 and GABARAP are authentic modifiers mediated by Apg7 and Apg3.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2003", "authors": "Tanida Isei, Komatsu Masaaki, Ueno Takashi, Kominami Eiki", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" } ], "reference": [ { "type": "PubMed", "id": "12507496", "url": "https://glygen.org/publication/PubMed/12507496" } ] }, { "title": "LC3, GABARAP and GATE16 localize to autophagosomal membrane depending on form-II formation.", "journal": "Journal of cell science", "date": "2004", "authors": "Kabeya Y, Mizushima N, Yamamoto A, Oshitani-Okamoto S, Ohsumi Y, Yoshimori T", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" } ], "reference": [ { "type": "PubMed", "id": "15169837", "url": "https://glygen.org/publication/PubMed/15169837" } ] }, { "title": "HsAtg4B/HsApg4B/autophagin-1 cleaves the carboxyl termini of three human Atg8 homologues and delipidates microtubule-associated protein light chain 3- and GABAA receptor-associated protein-phospholipid conjugates.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Tanida I, Sou YS, Ezaki J, Minematsu-Ikeguchi N, Ueno T, Kominami E", "evidence": [ { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "15187094", "url": "https://glygen.org/publication/PubMed/15187094" } ] }, { "title": "GABAA receptor-associated protein (GABARAP) induces apoptosis by interacting with DEAD (Asp-Glu-Ala-Asp/His) box polypeptide 47 (DDX 47).", "journal": "Biotechnology letters", "date": "2005", "authors": "Lee JH, Rho SB, Chun T", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" } ], "reference": [ { "type": "PubMed", "id": "15977068", "url": "https://glygen.org/publication/PubMed/15977068" } ] }, { "title": "TBC domain family, member 15 is a novel mammalian Rab GTPase-activating protein with substrate preference for Rab7.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Zhang XM, Walsh B, Mitchell CA, Rowe T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854214", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854214" } ], "reference": [ { "type": "PubMed", "id": "16055087", "url": "https://glygen.org/publication/PubMed/16055087" } ] }, { "title": "A role for the Rab6A' GTPase in the inactivation of the Mad2-spindle checkpoint.", "journal": "The EMBO journal", "date": "2006", "authors": "Miserey-Lenkei S, Couedel-Courteille A, Del Nery E, Bardin S, Piel M, Racine V, Sibarita JB, Perez F, Bornens M, Goud B", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854214", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854214" } ], "reference": [ { "type": "PubMed", "id": "16395330", "url": "https://glygen.org/publication/PubMed/16395330" } ] }, { "title": "Stimulation of ATG12-ATG5 conjugation by ribonucleic acid.", "journal": "Autophagy", "date": "2007", "authors": "Shao Y, Gao Z, Feldman T, Jiang X", "evidence": [ { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "16963840", "url": "https://glygen.org/publication/PubMed/16963840" } ] }, { "title": "p62/SQSTM1 binds directly to Atg8/LC3 to facilitate degradation of ubiquitinated protein aggregates by autophagy.", "journal": "J. Biol. Chem.", "date": "2007", "authors": "Pankiv S, Clausen TH, Lamark T, Brech A, Bruun JA, Outzen H, Overvatn A, Bjorkoy G, Johansen T", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" } ], "reference": [ { "type": "PubMed", "id": "17580304", "url": "https://glygen.org/publication/PubMed/17580304" } ] }, { "title": "Human WIPI-1 puncta-formation: a novel assay to assess mammalian autophagy.", "journal": "FEBS letters", "date": "2007", "authors": "Proikas-Cezanne T, Ruckerbauer S, Stierhof YD, Berg C, Nordheim A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "17618624", "url": "https://glygen.org/publication/PubMed/17618624" } ] }, { "title": "Identification of TBC7 having TBC domain as a novel binding protein to TSC1-TSC2 complex.", "journal": "Biochemical and biophysical research communications", "date": "2007", "authors": "Nakashima A, Yoshino K, Miyamoto T, Eguchi S, Oshiro N, Kikkawa U, Yonezawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854214", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854214" } ], "reference": [ { "type": "PubMed", "id": "17658474", "url": "https://glygen.org/publication/PubMed/17658474" } ] }, { "title": "TBC1D20 is a Rab1 GTPase-activating protein that mediates hepatitis C virus replication.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Sklan EH, Serrano RL, Einav S, Pfeffer SR, Lambright DG, Glenn JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854214", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854214" } ], "reference": [ { "type": "PubMed", "id": "17901050", "url": "https://glygen.org/publication/PubMed/17901050" } ] }, { "title": "The primate-specific protein TBC1D3 is required for optimal macropinocytosis in a novel ARF6-dependent pathway.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Frittoli E, Palamidessi A, Pizzigoni A, Lanzetti L, Garre M, Troglio F, Troilo A, Fukuda M, Di Fiore PP, Scita G, Confalonieri S", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854214", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854214" } ], "reference": [ { "type": "PubMed", "id": "18199687", "url": "https://glygen.org/publication/PubMed/18199687" } ] }, { "title": "The hominoid-specific oncogene TBC1D3 activates Ras and modulates epidermal growth factor receptor signaling and trafficking.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Wainszelbaum MJ, Charron AJ, Kong C, Kirkpatrick DS, Srikanth P, Barbieri MA, Gygi SP, Stahl PD", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854214", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854214" } ], "reference": [ { "type": "PubMed", "id": "18319245", "url": "https://glygen.org/publication/PubMed/18319245" } ] }, { "title": "The Atg16L complex specifies the site of LC3 lipidation for membrane biogenesis in autophagy.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Fujita N, Itoh T, Omori H, Fukuda M, Noda T, Yoshimori T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "18321988", "url": "https://glygen.org/publication/PubMed/18321988" } ] }, { "title": "AMPK phosphorylation of raptor mediates a metabolic checkpoint.", "journal": "Molecular cell", "date": "2008", "authors": "Gwinn DM, Shackelford DB, Egan DF, Mihaylova MM, Mery A, Vasquez DS, Turk BE, Shaw RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "18439900", "url": "https://glygen.org/publication/PubMed/18439900" } ] }, { "title": "The TSC1-TSC2 complex: a molecular switchboard controlling cell growth.", "journal": "The Biochemical journal", "date": "2008", "authors": "Huang J, Manning BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854214", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854214" } ], "reference": [ { "type": "PubMed", "id": "18466115", "url": "https://glygen.org/publication/PubMed/18466115" } ] }, { "title": "Ligand binding mode of GABAA receptor-associated protein.", "journal": "J. 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"database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:0008625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008625", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" } ], "pmid": "" }, { "name": "cellular response to nitrogen starvation", "id": "GO:0006995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006995", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" } ], "pmid": "" }, { "name": "positive regulation of protein K48-linked ubiquitination", "id": "GO:1902524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902524", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" } ], "pmid": "" }, { "name": "phosphatidylethanolamine binding", "id": "GO:0008429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008429", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" } ], "pmid": "" }, { "name": "beta-tubulin binding", "id": "GO:0048487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048487", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" } ], "pmid": "" }, { "name": "GABA receptor binding", "id": "GO:0050811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050811", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [ { "annotation": "(Microbial infection) The Legionella effector RavZ is a deconjugating enzyme that hydrolyzes the amide bond between the C-terminal glycine residue and an adjacent aromatic residue in ATG8 proteins conjugated to phosphatidylethanolamine (PE), producing an ATG8 protein that is resistant to reconjugation by the host machinery due to the cleavage of the reactive C-terminal glycine (PubMed:31722778). RavZ is also able to mediate delipidation of ATG8 proteins conjugated to phosphatidylserine (PS) (PubMed:33909989).", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" }, { "database": "PubMed", "id": "31722778", "url": "https://glygen.org/publication/PubMed/31722778" }, { "database": "PubMed", "id": "33909989", "url": "https://glygen.org/publication/PubMed/33909989" } ] }, { "annotation": "The precursor molecule is cleaved by ATG4 (ATG4A, ATG4B, ATG4C or ATG4D) to expose the glycine at the C-terminus and form the cytosolic form, GABARAP-I (PubMed:15169837, PubMed:20818167, PubMed:30661429). The processed form is then activated by APG7L/ATG7, transferred to ATG3 and conjugated to phosphatidylethanolamine (PE) phospholipid to form the membrane-bound form, GABARAP-II (PubMed:15169837). During non-canonical autophagy, the processed form is conjugated to phosphatidylserine (PS) phospholipid (PubMed:33909989). ATG4 proteins also mediate the delipidation of PE-conjugated forms (PubMed:33909989). In addition, ATG4B and ATG4D mediate delipidation of ATG8 proteins conjugated to PS during non-canonical autophagy (PubMed:33909989). ATG4B constitutes the major protein for proteolytic activation (PubMed:30661429). ATG4D is the main enzyme for delipidation activity (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O95166", "url": "https://www.uniprot.org/uniprot/O95166" }, { "database": "PubMed", "id": "15169837", "url": "https://glygen.org/publication/PubMed/15169837" }, { "database": "PubMed", "id": "20818167", "url": "https://glygen.org/publication/PubMed/20818167" }, { "database": "PubMed", "id": "30661429", "url": "https://glygen.org/publication/PubMed/30661429" }, { "database": "PubMed", "id": "33909989", "url": "https://glygen.org/publication/PubMed/33909989" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 91 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }