{ "uniprot_canonical_ac": "O43633-1", "uniprot_ac": "O43633", "uniprot_id": "CHM2A_HUMAN", "mass": { "chemical_mass": 25104.0, "monoisotopic_mass": 25104.0 }, "refseq": { "ac": "NP_055268", "name": "charged multivesicular body protein 2a", "summary": "CHMP2A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055268" }, "gene_names": [ { "name": "CHMP2A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43633", "id": "O43633" }, { "name": "BC-2; BC2; CHMP2; VPS2; VPS2A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055268", "id": "NP_055268" }, { "name": "BC2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43633", "id": "O43633" }, { "name": "CHMP2A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055268", "id": "NP_055268" }, { "name": "CHMP2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43633", "id": "O43633" } ], "protein_names": [ { "name": "Charged multivesicular body protein 2a", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43633" }, { "name": "CHMP2a", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43633" }, { "name": "Chromatin-modifying protein 2a", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43633" }, { "name": "Putative breast adenocarcinoma marker BC-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43633" }, { "name": "Vacuolar protein sorting-associated protein 2-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43633" }, { "name": "Vps2-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43633" }, { "name": "charged multivesicular body protein 2a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055268", "id": "NP_055268" }, { "name": "hVps2-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43633" }, { "name": "putative breast adenocarcinoma marker (32kD); VPS2 homolog A; vps2-1; putative breast adenocarcinoma marker BC-2; vacuolar protein sorting-associated protein 2-1; chromatin modifying protein 2A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055268", "id": "NP_055268" } ], "function": [ { "annotation": "(Microbial infection) The ESCRT machinery functions in topologically equivalent membrane fission events, such as the budding of enveloped viruses (HIV-1 and other lentiviruses). Involved in HIV-1 p6- and p9-dependent virus release.", "evidence": [ { "database": "UniProtKB", "id": "O43633", "url": "https://www.uniprot.org/uniprot/O43633#function" }, { "database": "PubMed", "id": "14519844", "url": "https://glygen.org/publication/PubMed/14519844" }, { "database": "PubMed", "id": "14505570", "url": "https://glygen.org/publication/PubMed/14505570" } ] }, { "annotation": "CHMP2A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_055268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055268" } ] }, { "annotation": "PTEN alleviates maladaptive repair of renal tubular epithelial cells by restoring CHMP2A-mediated phagosome closure. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_055268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055268" }, { "database": "PubMed", "id": "34789720", "url": "https://glygen.org/publication/PubMed/34789720" } ] }, { "annotation": "Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis (PubMed:21310966). Together with SPAST, the ESCRT-III complex promotes nuclear envelope sealing and mitotic spindle disassembly during late anaphase (PubMed:26040712). Recruited to the reforming nuclear envelope (NE) during anaphase by LEMD2 (PubMed:28242692). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4.", "evidence": [ { "database": "UniProtKB", "id": "O43633", "url": "https://www.uniprot.org/uniprot/O43633#function" }, { "database": "PubMed", "id": "21310966", "url": "https://glygen.org/publication/PubMed/21310966" }, { "database": "PubMed", "id": "26040712", "url": "https://glygen.org/publication/PubMed/26040712" }, { "database": "PubMed", "id": "28242692", "url": "https://glygen.org/publication/PubMed/28242692" } ] }, { "annotation": "Targeting the ESCRT-III component CHMP2A for noncanonical Caspase-8 activation on autophagosomal membranes.", "evidence": [ { "database": "RefSeq", "id": "NP_055268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055268" }, { "database": "PubMed", "id": "32807832", "url": "https://glygen.org/publication/PubMed/32807832" } ] }, { "annotation": "The ESCRT-III isoforms CHMP2A and CHMP2B display different effects on membranes upon polymerization. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_055268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055268" }, { "database": "PubMed", "id": "33832485", "url": "https://glygen.org/publication/PubMed/33832485" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 169, "end_pos": 170, "sequence_org": "DE", "sequence_mut": "AA", "comment": "Diminishes interaction with VPS4B.", "evidence": [ { "database": "UniProtKB", "id": "O43633", "url": "https://www.uniprot.org/uniprot/O43633" }, { "database": "PubMed", "id": "18385515", "url": "https://glygen.org/publication/PubMed/18385515" } ] }, { "start_pos": 181, "end_pos": 222, "sequence_org": "NLPSTGGSLSVAAGGKKAEAAASALADADADLEERLKNLRRD", "sequence_mut": "", "comment": "Membrane association; releases autoinhibition.", "evidence": [ { "database": "UniProtKB", "id": "O43633", "url": "https://www.uniprot.org/uniprot/O43633" }, { "database": "PubMed", "id": "17547705", "url": "https://glygen.org/publication/PubMed/17547705" } ] }, { "start_pos": 216, "end_pos": 216, "sequence_org": "L", "sequence_mut": "A", "comment": "Diminishes interaction with VTA1.", "evidence": [ { "database": "UniProtKB", "id": "O43633", "url": "https://www.uniprot.org/uniprot/O43633" }, { "database": "PubMed", "id": "18385515", "url": "https://glygen.org/publication/PubMed/18385515" } ] }, { "start_pos": 217, "end_pos": 222, "sequence_org": "KNLRRD", "sequence_mut": "", "comment": "Abolishes interaction with VTA1.", "evidence": [ { "database": "UniProtKB", "id": "O43633", "url": "https://www.uniprot.org/uniprot/O43633" }, { "database": "PubMed", "id": "18385515", "url": "https://glygen.org/publication/PubMed/18385515" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "97.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130724" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "98.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130724" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "97.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130724" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "93.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130724" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130724" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130724" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "97.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130724" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "98.05", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130724" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "98.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130724" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "95.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130724" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "95.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130724" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "98.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130724" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "97.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130724" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43633", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43633" } ], "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, 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"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": "O43633", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43633" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43633", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43633" } ], "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 tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": 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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": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O43633", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43633" } ], "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43633" } ], "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": [ { 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"MDLLFGRRKTPEELLRQNQRALNRAMRELDRERQKLETQEKKIIADIKKMAKQGQMDAVRIMAKDLVRTRRYVRKFVLMRANIQAVSLKIQTLKSNNSMAQAMKGVTKAMGTMNRQLKLPQIQKIMMEFERQAEIMDMKEEMMNDAIDDAMGDEEDEEESDAVVSQVLDELGLSLTDELSNLPSTGGSLSVAAGGKKAEAAASALADADADLEERLKNLRRD", "length": 222, "header": "sp|O43633-1|CHM2A_HUMAN Isoform 1 of Charged multivesicular body protein 2a OS=Homo sapiens OX=9606 GN=CHMP2A PE=1 SV=1 CANONICAL=O43633-1" }, "locus": { "chromosome": "19", "start_pos": 58554212, "end_pos": 58551652, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000312547.7", "url": "https://www.ensembl.org/id/ENST00000312547.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000310440.1", "url": "https://www.ensembl.org/id/ENSP00000310440.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O43633", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43633" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [ { "start_pos": 184, "end_pos": 184, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43633", "url": "https://www.uniprot.org/uniprot/O43633" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O43633", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43633" } ], "site_lbl": "Ser184" }, { "start_pos": 185, "end_pos": 185, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O43633", "url": "https://www.uniprot.org/uniprot/O43633" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O43633", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43633" } ], "site_lbl": "Thr185" }, { "start_pos": 188, "end_pos": 188, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43633", "url": "https://www.uniprot.org/uniprot/O43633" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O43633", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43633" } ], "site_lbl": "Ser188" }, { "start_pos": 190, "end_pos": 190, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43633", "url": "https://www.uniprot.org/uniprot/O43633" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O43633", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43633" } ], "site_lbl": "Ser190" }, { "start_pos": 203, "end_pos": 203, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43633", "url": "https://www.uniprot.org/uniprot/O43633" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O43633", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43633" }, { "database": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" }, { "database": "phospho.ELM", "id": "O43633", "url": "http://phospho.elm.eu.org/byAccession/O43633.html" } ], "site_lbl": "Ser203" }, { "start_pos": 38, "end_pos": 38, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43633", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43633" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr38" }, { "start_pos": 72, "end_pos": 72, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43633", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43633" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Tyr72" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Functional organization of clathrin in coats: combining electron cryomicroscopy and X-ray crystallography.", "journal": "Molecular cell", "date": "1999", "authors": "Musacchio A, Smith CJ, Roseman AM, Harrison SC, Kirchhausen T, Pearse BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "10394364", "url": "https://glygen.org/publication/PubMed/10394364" } ] }, { "title": "Characterization of a fourth adaptor-related protein complex.", "journal": "Molecular biology of the cell", "date": "1999", "authors": "Hirst J, Bright NA, Rous B, Robinson MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "10436028", "url": "https://glygen.org/publication/PubMed/10436028" } ] }, { "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": "The Journal of biological chemistry", "date": "2001", "authors": "Tanida I, Tanida-Miyake E, Ueno T, Kominami E", "evidence": [ { "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": "Signal-binding specificity of the mu4 subunit of the adaptor protein complex AP-4.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Aguilar RC, Boehm M, Gorshkova I, Crouch RJ, Tomita K, Saito T, Ohno H, Bonifacino JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11139587", "url": "https://glygen.org/publication/PubMed/11139587" } ] }, { "title": "Hepatitis B virus large envelope protein interacts with gamma2-adaptin, a clathrin adaptor-related protein.", "journal": "Journal of virology", "date": "2001", "authors": "Hartmann-Stuhler C, Prange R", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11333915", "url": "https://glygen.org/publication/PubMed/11333915" } ] }, { "title": "CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins.", "journal": "J. Cell Sci.", "date": "2001", "authors": "Howard TL, Stauffer DR, Degnin CR, Hollenberg SM", "evidence": [ { "database": "UniProtKB", "id": "O43633", "url": "https://www.uniprot.org/uniprot/O43633" } ], "reference": [ { "type": "PubMed", "id": "11559748", "url": "https://glygen.org/publication/PubMed/11559748" } ] }, { "title": "Mammalian cells express two VPS4 proteins both of which are involved in intracellular protein trafficking.", "journal": "Journal of molecular biology", "date": "2001", "authors": "Scheuring S, Rohricht RA, Schoning-Burkhardt B, Beyer A, Muller S, Abts HF, Kohrer K", "evidence": [ { "database": "Reactome", "id": "R-HSA-917729", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-917729" } ], "reference": [ { "type": "PubMed", "id": "11563910", "url": "https://glygen.org/publication/PubMed/11563910" } ] }, { "title": "Generation of high curvature membranes mediated by direct endophilin bilayer interactions.", "journal": "The Journal of cell biology", "date": "2001", "authors": "Farsad K, Ringstad N, Takei K, Floyd SR, Rose K, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11604418", "url": "https://glygen.org/publication/PubMed/11604418" } ] }, { "title": "GGAs: roles of the different domains and comparison with AP-1 and clathrin.", "journal": "Molecular biology of the cell", "date": "2001", "authors": "Hirst J, Lindsay MR, Robinson MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11694590", "url": "https://glygen.org/publication/PubMed/11694590" } ] }, { "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": "The Journal of biological chemistry", "date": "2002", "authors": "Tanida I, Tanida-Miyake E, Komatsu M, Ueno T, Kominami E", "evidence": [ { "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": "Regulated transport of the glucose transporter GLUT4.", "journal": "Nature reviews. Molecular cell biology", "date": "2002", "authors": "Bryant NJ, Govers R, James DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11994746", "url": "https://glygen.org/publication/PubMed/11994746" } ] }, { "title": "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.", "journal": "Nature biotechnology", "date": "2003", "authors": "Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J", "evidence": [ { "database": "UniProtKB", "id": "O43633", "url": "https://www.uniprot.org/uniprot/O43633" } ], "reference": [ { "type": "PubMed", "id": "12665801", "url": "https://glygen.org/publication/PubMed/12665801" } ] }, { "title": "The protein network of HIV budding.", "journal": "Cell", "date": "2003", "authors": "von Schwedler UK, Stuchell M, Muller B, Ward DM, Chung HY, Morita E, Wang HE, Davis T, He GP, Cimbora DM, Scott A, Krausslich HG, Kaplan J, Morham SG, Sundquist WI", "evidence": [ { "database": "UniProtKB", "id": "O43633", "url": "https://www.uniprot.org/uniprot/O43633" } ], "reference": [ { "type": "PubMed", "id": "14505570", "url": "https://glygen.org/publication/PubMed/14505570" } ] }, { "title": "Divergent retroviral late-budding domains recruit vacuolar protein sorting factors by using alternative adaptor proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Martin-Serrano J, Yarovoy A, Perez-Caballero D, Bieniasz PD", "evidence": [ { "database": "UniProtKB", "id": "O43633", "url": "https://www.uniprot.org/uniprot/O43633" } ], "reference": [ { "type": "PubMed", "id": "14519844", "url": "https://glygen.org/publication/PubMed/14519844" } ] }, { "title": "Hrs function: viruses provide the clue.", "journal": "Trends in cell biology", "date": "2003", "authors": "Clague MJ, Urbe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-917729", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-917729" } ], "reference": [ { "type": "PubMed", "id": "14624836", "url": "https://glygen.org/publication/PubMed/14624836" } ] }, { "title": "ATPase-deficient hVPS4 impairs formation of internal endosomal vesicles and stabilizes bilayered clathrin coats on endosomal vacuoles.", "journal": "Journal of cell science", "date": "2004", "authors": "Sachse M, Strous GJ, Klumperman J", "evidence": [ { "database": "Reactome", "id": "R-HSA-917729", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-917729" } ], "reference": [ { "type": "PubMed", "id": "15075231", "url": "https://glygen.org/publication/PubMed/15075231" } ] }, { "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": "The human endosomal sorting complex required for transport (ESCRT-I) and its role in HIV-1 budding.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Stuchell MD, Garrus JE, Muller B, Stray KM, Ghaffarian S, McKinnon R, Krausslich HG, Morham SG, Sundquist WI", "evidence": [ { "database": "Reactome", "id": "R-HSA-917729", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-917729" } ], "reference": [ { "type": "PubMed", "id": "15218037", "url": "https://glygen.org/publication/PubMed/15218037" } ] }, { "title": "Identification and characterization of severe acute respiratory syndrome coronavirus replicase proteins.", "journal": "Journal of virology", "date": "2004", "authors": "Prentice E, McAuliffe J, Lu X, Subbarao K, Denison MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679504", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679504" } ], "reference": [ { "type": "PubMed", "id": "15331731", "url": "https://glygen.org/publication/PubMed/15331731" } ] }, { "title": "Retrovirus budding.", "journal": "Annual review of cell and developmental biology", "date": "2004", "authors": "Morita E, Sundquist WI", "evidence": [ { "database": "Reactome", "id": "R-HSA-162588", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162588" } ], "reference": [ { "type": "PubMed", "id": "15473846", "url": "https://glygen.org/publication/PubMed/15473846" } ] }, { "title": "Depletion of GAK/auxilin 2 inhibits receptor-mediated endocytosis and recruitment of both clathrin and clathrin adaptors.", "journal": "Journal of cell science", "date": "2005", "authors": "Lee DW, Zhao X, Zhang F, Eisenberg E, Greene LE", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "16155256", "url": "https://glygen.org/publication/PubMed/16155256" } ] }, { "title": "Degradation of endocytosed epidermal growth factor and virally ubiquitinated major histocompatibility complex class I is independent of mammalian ESCRTII.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Bowers K, Piper SC, Edeling MA, Gray SR, Owen DJ, Lehner PJ, Luzio JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-917729", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-917729" } ], "reference": [ { "type": "PubMed", "id": "16371348", "url": "https://glygen.org/publication/PubMed/16371348" } ] }, { "title": "NovelFam3000 -- uncharacterized human protein domains conserved across model organisms.", "journal": "BMC Genomics", "date": "2006", "authors": "Kemmer Danielle, Podowski Raf M, Arenillas David, Lim Jonathan, Hodges Emily, Roth Peggy, Sonnhammer Erik L L, H\u00f6\u00f6g Christer, Wasserman Wyeth W", "evidence": [ { "database": "UniProtKB", "id": "O43633", "url": "https://www.uniprot.org/uniprot/O43633" } ], "reference": [ { "type": "PubMed", "id": "16533400", "url": "https://glygen.org/publication/PubMed/16533400" } ] }, { "title": "Phosphoproteome analysis of the human mitotic spindle.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Nousiainen M, Sillje HH, Sauer G, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "O43633", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43633" } ], "reference": [ { "type": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" } ] }, { "title": "A systematic analysis of human CHMP protein interactions: 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