{ "uniprot_canonical_ac": "Q8WU17-1", "uniprot_ac": "Q8WU17", "uniprot_id": "RN139_HUMAN", "mass": { "chemical_mass": 75994.0, "monoisotopic_mass": 75994.0 }, "refseq": { "ac": "NP_009149", "name": "E3 ubiquitin-protein ligase RNF139", "summary": "The protein encoded by this gene is a multi-membrane spanning protein containing a RING-H2 finger. This protein is located in the endoplasmic reticulum, and has been shown to possess ubiquitin ligase activity. This gene was found to be interrupted by a t(3:8) translocation in a family with hereditary renal and non-medulary thyroid cancer. Studies of the Drosophila counterpart suggested that this protein may interact with tumor suppressor protein VHL, as well as with COPS5/JAB1, a protein responsible for the degradation of tumor suppressor CDKN1B/P27KIP. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009149" }, "gene_names": [ { "name": "RNF139", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8WU17", "id": "Q8WU17" }, { "name": "HRCA1; RCA1; TRC8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009149", "id": "NP_009149" }, { "name": "RNF139", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009149", "id": "NP_009149" }, { "name": "TRC8", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8WU17", "id": "Q8WU17" } ], "protein_names": [ { "name": "E3 ubiquitin-protein ligase RNF139", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8WU17" }, { "name": "2.3.2.27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8WU17" }, { "name": "E3 ubiquitin-protein ligase RNF139", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009149", "id": "NP_009149" }, { "name": "RING finger protein 139", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8WU17" }, { "name": "RING-type E3 ubiquitin transferase RNF139", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8WU17" }, { "name": "Translocation in renal carcinoma on chromosome 8 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8WU17" }, { "name": "patched related protein translocated in renal cancer; multiple membrane spanning receptor TRC8; translocation in renal carcinoma on chromosome 8 protein; RING-type E3 ubiquitin transferase RNF139; translocation in renal carcinoma, chromosome 8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009149", "id": "NP_009149" } ], "function": [ { "annotation": "An E3 Ubiquitin Ligase RNF139 Serves as a Tumor-Suppressor in Glioma.", "evidence": [ { "database": "RefSeq", "id": "NP_009149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009149" }, { "database": "PubMed", "id": "34106407", "url": "https://glygen.org/publication/PubMed/34106407" } ] }, { "annotation": "E3-ubiquitin ligase; acts as a negative regulator of cell proliferation through mechanisms involving G2/M arrest and cell death (PubMed:10500182, PubMed:12032852, PubMed:17016439). Required for MHC class I ubiquitination in cells expressing the cytomegalovirus protein US2 before dislocation from the endoplasmic reticulum (ER) (PubMed:19720873). Affects SREBP processing by hindering the SREBP-SCAP complex translocation from the ER to the Golgi, thereby reducing SREBF2 target gene expression (PubMed:19706601, PubMed:20068067). Involved in the sterol-accelerated degradation of HMGCR (PubMed:22143767, PubMed:23223569). This is achieved through binding of RNF139 to INSIG1 and/or INSIG2 at the ER membrane (PubMed:22143767). In addition, interaction of RNF139 with AUP1 facilitates interaction of RNF139 with ubiquitin-conjugating enzyme UBE2G2 and ubiquitin ligase AMFR, leading to ubiquitination of HMGCR (PubMed:23223569). The ubiquitinated HMGCR is then released from the ER into the cytosol for subsequent destruction (PubMed:22143767, PubMed:23223569). Required for INSIG1 ubiquitination (PubMed:20068067). May be required for EIF3 complex ubiquitination (PubMed:20068067).", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17#function" }, { "database": "PubMed", "id": "19720873", "url": "https://glygen.org/publication/PubMed/19720873" }, { "database": "PubMed", "id": "17016439", "url": "https://glygen.org/publication/PubMed/17016439" }, { "database": "PubMed", "id": "10500182", "url": "https://glygen.org/publication/PubMed/10500182" }, { "database": "PubMed", "id": "12032852", "url": "https://glygen.org/publication/PubMed/12032852" }, { "database": "PubMed", "id": "20068067", "url": "https://glygen.org/publication/PubMed/20068067" }, { "database": "PubMed", "id": "22143767", "url": "https://glygen.org/publication/PubMed/22143767" }, { "database": "PubMed", "id": "23223569", "url": "https://glygen.org/publication/PubMed/23223569" }, { "database": "PubMed", "id": "19706601", "url": "https://glygen.org/publication/PubMed/19706601" } ] }, { "annotation": "INSIG1 coordinated with another ligase, translocation in renal carcinoma chromosome 8 (TRC8), and promoted Gag degradation through the lysosome pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_009149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009149" }, { "database": "PubMed", "id": "30563842", "url": "https://glygen.org/publication/PubMed/30563842" } ] }, { "annotation": "Low RNF139 expression is associated with progression of tongue cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_009149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009149" }, { "database": "PubMed", "id": "28662643", "url": "https://glygen.org/publication/PubMed/28662643" } ] }, { "annotation": "TRC8 and MARCH6 depletion altered the turnover of the tail-anchored protein heme oxygenase-1.", "evidence": [ { "database": "RefSeq", "id": "NP_009149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009149" }, { "database": "PubMed", "id": "29519897", "url": "https://glygen.org/publication/PubMed/29519897" } ] }, { "annotation": "TRC8 modulation of sterol response element binding protein activity comprises a novel regulatory link between growth control and the cholesterol/lipid homeostasis pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_009149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009149" }, { "database": "PubMed", "id": "17016439", "url": "https://glygen.org/publication/PubMed/17016439" } ] }, { "annotation": "The presence of diploid and tetraploid tumor cells with and without TRC8 deletions on the nontranslocated chromosome suggest that loss of the remaining normal allele of TRC8 may contribute to tumor development at later stages.", "evidence": [ { "database": "RefSeq", "id": "NP_009149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009149" }, { "database": "PubMed", "id": "17539022", "url": "https://glygen.org/publication/PubMed/17539022" } ] }, { "annotation": "The protein encoded by this gene is a multi-membrane spanning protein containing a RING-H2 finger. This protein is located in the endoplasmic reticulum, and has been shown to possess ubiquitin ligase activity. This gene was found to be interrupted by a t(3:8) translocation in a family with hereditary renal and non-medulary thyroid cancer. Studies of the Drosophila counterpart suggested that this protein may interact with tumor suppressor protein VHL, as well as with COPS5/JAB1, a protein responsible for the degradation of tumor suppressor CDKN1B/P27KIP. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_009149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009149" } ] } ], "disease": [ { "disease_id": "DOID:0050387", "recommended_name": { "id": "DOID:0050387", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050387", "name": "nonpapillary renal cell carcinoma", "description": "A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences." }, "synonyms": [ { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "nonpapillary renal cell carcinoma", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "renal cell carcinoma", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "renal carcinoma, chromophobe, somatic", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "renal cell carcinoma, clear cell", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "renal cell carcinoma, clear cell, somatic", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "renal cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "CCRCC", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "clear cell renal cell adenocarcinoma", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "clear cell renal cell carcinoma", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "RCC", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "adenocarcinoma of kidney", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "hypernephroma", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "nonpapillary renal carcinoma 1 locus", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "renal cell carcinoma, nonpapillary", "description": "" }, { "id": "MIM:144700", "resource": "MIM", "url": "https://www.omim.org/entry/144700", "name": "Renal cell carcinoma", "description": "Renal cell carcinoma" } ], "evidence": [ { "id": "144700", "database": "MIM", "url": "https://www.omim.org/entry/144700" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 547, "end_pos": 550, "sequence_org": "CAIC", "sequence_mut": "SAIS", "comment": "Abolishes ubiquitination activity. Increases proliferation. Does not phosphorylate CHEK2 on T-68. Does not phosphorylate ATM on S-1981. Rescues MHC class I to the cell surface. Suppresses SREBF2 processing in the presence or absence of sterols. Fails to down-regulate SREBF1 and SREBF2. Decreases INSIG1 ubiquitination.", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" }, { "database": "PubMed", "id": "19720873", "url": "https://glygen.org/publication/PubMed/19720873" }, { "database": "PubMed", "id": "17016439", "url": "https://glygen.org/publication/PubMed/17016439" }, { "database": "PubMed", "id": "20068067", "url": "https://glygen.org/publication/PubMed/20068067" }, { "database": "PubMed", "id": "19706601", "url": "https://glygen.org/publication/PubMed/19706601" } ] }, { "start_pos": 547, "end_pos": 586, "sequence_org": "CAICYHEFTTSARITPCNHYFHALCLRKWLYIQDTCPMCH", "sequence_mut": "", "comment": "Increases proliferation. Rescues MHC class I to the cell surface. Fails to down-regulate SREBF1 and SREBF2.", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" }, { "database": "PubMed", "id": "19720873", "url": "https://glygen.org/publication/PubMed/19720873" }, { "database": "PubMed", "id": "17016439", "url": "https://glygen.org/publication/PubMed/17016439" }, { "database": "PubMed", "id": "20068067", "url": "https://glygen.org/publication/PubMed/20068067" }, { "database": "PubMed", "id": "19706601", "url": "https://glygen.org/publication/PubMed/19706601" } ] }, { "start_pos": 557, "end_pos": 559, "sequence_org": "SAR", "sequence_mut": "AAA", "comment": "Retaines about 30% of ubiquitination activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" }, { "database": "PubMed", "id": "17016439", "url": "https://glygen.org/publication/PubMed/17016439" } ] }, { "start_pos": 572, "end_pos": 574, "sequence_org": "LRK", "sequence_mut": "AAA", "comment": "Abolishes ubiquitination activity. Increases proliferation.", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" }, { "database": "PubMed", "id": "17016439", "url": "https://glygen.org/publication/PubMed/17016439" } ] }, { "start_pos": 582, "end_pos": 585, "sequence_org": "CPMC", "sequence_mut": "APMA", "comment": "Abolishes ubiquitination activity. Increases proliferation.", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" }, { "database": "PubMed", "id": "17016439", "url": "https://glygen.org/publication/PubMed/17016439" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "82.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170881", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170881" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "90.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170881", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170881" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "86.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170881", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170881" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "71.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000170881", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170881" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "91.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170881", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170881" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "89.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170881", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170881" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "85.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170881", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170881" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "88.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170881", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170881" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "84.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170881", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170881" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "84.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170881", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170881" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "86.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170881", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170881" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170881", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170881" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "87.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170881", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170881" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q8WU17", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8WU17" } ], "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", 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}, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric 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"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", 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"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", 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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": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "Q8WU17", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8WU17" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q8WU17", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8WU17" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "Q8WU17", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8WU17" } ], "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": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" } ], "common_name": "Human" } ], "gene": [ { "name": "RNF139", "url": "https://www.uniprot.org/uniprot/Q8WU17", "locus": { "chromosome": "8", "start_pos": 124488618, "end_pos": 124474880, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000170881", "url": "https://www.ensembl.org/id/ENSG00000170881" } ] } } ], "crossref": [ { "id": "ENSG00000170881", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170881", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd16683", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd16683", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "RNF139", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF139", "database": 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"http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22763", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR22763:SF163", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22763:SF163", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF13639", "url": "http://pfam.xfam.org/family/PF13639", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13705", "url": "http://pfam.xfam.org/family/PF13705", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q8WU17", "url": "https://pharos.nih.gov/targets/Q8WU17", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q8WU17", "url": "http://purl.obolibrary.org/obo/PR_Q8WU17", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": 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"header": "tr|E5RH85-1|RN139_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase RNF139 OS=Homo sapiens OX=9606 GN=RNF139 PE=1 SV=2 CANONICAL=Q8WU17-1" }, "locus": { "chromosome": "8", "start_pos": 124486234, "end_pos": 124486031, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517684.2", "url": "https://www.ensembl.org/id/ENST00000517684.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000429836.2", "url": "https://www.ensembl.org/id/ENSP00000429836.2" } ] } }, { "isoform_ac": "Q8WU17-1", "url": "", "sequence": { "sequence": "MAAVGPPQQQVRMAHQQVWAALEVALRVPCLYIIDAIFNSYPDSSQSRFCIVLQIFLRLFGVFASSIVLILSQRSLFKFYTYSSAFLLAATSVLVNYYASLHIDFYGAYNTSAFGIELLPRKGPSLWMALIVLQLTFGIGYVTLLQIHSIYSQLIILDLLVPVIGLITELPLHIRETLLFTSSLILTLNTVFVLAVKLKWFYYSTRYVYLLVRHMYRIYGLQLLMEDTWKRIRFPDILRVFWLTRVTAQATVLMYILRMANETDSFFISWDDFWDLICNLIISGCDSTLTVLGMSAVISSVAHYLGLGILAFIGSTEEDDRRLGFVAPVLFFILALQTGLSGLRPEERLIRLSRNMCLLLTAVLHFIHGMTDPVLMSLSASHVSSFRRHFPVLFVSACLFILPVLLSYVLWHHYALNTWLFAVTAFCVELCLKVIVSLTVYTLFMIDGYYNVLWEKLDDYVYYVRSTGSIIEFIFGVVMFGNGAYTMMFESGSKIRAFMMCLHAYFNIYLQAKNGWKTFMNRRTAVKKINSLPEIKGSRLQEINDVCAICYHEFTTSARITPCNHYFHALCLRKWLYIQDTCPMCHQKVYIEDDIKDNSNVSNNNGFIPPNETPEEAVREAAAESDRELNEDDSTDCDDDVQRERNGVIQHTGAAAEEFNDDTD", "length": 664, "header": "sp|Q8WU17-1|RN139_HUMAN Isoform 1 of E3 ubiquitin-protein ligase RNF139 OS=Homo sapiens OX=9606 GN=RNF139 PE=1 SV=1 CANONICAL=Q8WU17-1" }, "locus": { "chromosome": "8", "start_pos": 124487641, "end_pos": 124475110, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000303545.4", "url": "https://www.ensembl.org/id/ENST00000303545.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000304051.4", "url": "https://www.ensembl.org/id/ENSP00000304051.4" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 625, "end_pos": 625, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8WU17", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WU17" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "Q8WU17", "url": "http://phospho.elm.eu.org/byAccession/Q8WU17.html" } ], "site_lbl": "Ser625" }, { "start_pos": 634, "end_pos": 634, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q8WU17", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WU17" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "Q8WU17", "url": "http://phospho.elm.eu.org/byAccession/Q8WU17.html" } ], "site_lbl": "Ser634" }, { "start_pos": 635, "end_pos": 635, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q8WU17", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WU17" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "Q8WU17", "url": "http://phospho.elm.eu.org/byAccession/Q8WU17.html" } ], "site_lbl": "Thr635" }, { "start_pos": 663, "end_pos": 663, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "Q8WU17", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WU17" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "phospho.ELM", "id": "Q8WU17", "url": "http://phospho.elm.eu.org/byAccession/Q8WU17.html" } ], "site_lbl": "Thr663" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Identification, expression, and characterization of a cDNA encoding human endoplasmic reticulum mannosidase I, the enzyme that catalyzes the first mannose trimming step in mammalian Asn-linked oligosaccharide biosynthesis.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Gonzalez DS, Karaveg K, Vandersall-Nairn AS, Lal A, Moremen KW", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "10409699", "url": "https://glygen.org/publication/PubMed/10409699" } ] }, { "title": "RING fingers mediate ubiquitin-conjugating enzyme (E2)-dependent ubiquitination.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1999", "authors": "Lorick KL, Jensen JP, Fang S, Ong AM, Hatakeyama S, Weissman AM", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" } ], "reference": [ { "type": "PubMed", "id": "10500182", "url": "https://glygen.org/publication/PubMed/10500182" } ] }, { "title": "Two homologues encoding human UDP-glucose:glycoprotein glucosyltransferase differ in mRNA expression and enzymatic activity.", "journal": "Biochemistry", "date": "2000", "authors": "Arnold SM, Fessler LI, Fessler JH, Kaufman RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "10694380", "url": "https://glygen.org/publication/PubMed/10694380" } ] }, { "title": "The TRC8 hereditary kidney cancer gene suppresses growth and functions with VHL in a common pathway.", "journal": "Oncogene", "date": "2002", "authors": "Gemmill RM, Bemis LT, Lee JP, Sozen MA, Baron A, Zeng C, Erickson PF, Hooper JE, Drabkin HA", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" } ], "reference": [ { "type": "PubMed", "id": "12032852", "url": "https://glygen.org/publication/PubMed/12032852" } ] }, { "title": "The noncatalytic portion of human UDP-glucose: glycoprotein glucosyltransferase I confers UDP-glucose binding and transferase function to the catalytic domain.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Arnold SM, Kaufman RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "12913004", "url": "https://glygen.org/publication/PubMed/12913004" } ] }, { "title": "Mechanism of class 1 (glycosylhydrolase family 47) {alpha}-mannosidases involved in N-glycan processing and endoplasmic reticulum quality control.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Karaveg K, Siriwardena A, Tempel W, Liu ZJ, Glushka J, Wang BC, Moremen KW", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "15713668", "url": "https://glygen.org/publication/PubMed/15713668" } ] }, { "title": "EDEM3, a soluble EDEM homolog, enhances glycoprotein endoplasmic reticulum-associated degradation and mannose trimming.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Hirao K, Natsuka Y, Tamura T, Wada I, Morito D, Natsuka S, Romero P, Sleno B, Tremblay LO, Herscovics A, Nagata K, Hosokawa N", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "16431915", "url": "https://glygen.org/publication/PubMed/16431915" } ] }, { "title": "RING-dependent tumor suppression and G2/M arrest induced by the TRC8 hereditary kidney cancer gene.", "journal": "Oncogene", "date": "2007", "authors": "Brauweiler A, Lorick KL, Lee JP, Tsai YC, Chan D, Weissman AM, Drabkin HA, Gemmill RM", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" }, { "database": "RefSeq", "id": "NP_009149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009149" } ], "reference": [ { "type": "PubMed", "id": "17016439", "url": "https://glygen.org/publication/PubMed/17016439" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" }, { "database": "iPTMnet", "id": "Q8WU17", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WU17" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "A constitutional balanced t(3;8)(p14;q24.1) translocation results in disruption of the TRC8 gene and predisposition to clear cell renal cell carcinoma.", "journal": "Genes, chromosomes & cancer", "date": "2007", "authors": "Poland KS, Azim M, Folsom M, Goldfarb R, Naeem R, Korch C, Drabkin HA, Gemmill RM, Plon SE", "evidence": [ { "database": "RefSeq", "id": "NP_009149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009149" } ], "reference": [ { "type": "PubMed", "id": "17539022", "url": "https://glygen.org/publication/PubMed/17539022" } ] }, { "title": "Endoplasmic reticulum (ER) mannosidase I is compartmentalized and required for N-glycan trimming to Man5-6GlcNAc2 in glycoprotein ER-associated degradation.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Avezov E, Frenkel Z, Ehrlich M, Herscovics A, Lederkremer GZ", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "18003979", "url": "https://glygen.org/publication/PubMed/18003979" } ] }, { "title": "OS-9 and GRP94 deliver mutant alpha1-antitrypsin to the Hrd1-SEL1L ubiquitin ligase complex for ERAD.", "journal": "Nature cell biology", "date": "2008", "authors": "Christianson JC, Shaler TA, Tyler RE, Kopito RR", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "18264092", "url": "https://glygen.org/publication/PubMed/18264092" } ] }, { "title": "A dual task for the Xbp1-responsive OS-9 variants in the mammalian endoplasmic reticulum: inhibiting secretion of misfolded protein conformers and enhancing their disposal.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Bernasconi R, Pertel T, Luban J, Molinari M", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "18417469", "url": "https://glygen.org/publication/PubMed/18417469" } ] }, { "title": "A cell-based reglucosylation assay demonstrates the role of GT1 in the quality control of a maturing glycoprotein.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Pearse BR, Gabriel L, Wang N, Hebert DN", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "18426978", "url": "https://glygen.org/publication/PubMed/18426978" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" }, { "database": "iPTMnet", "id": "Q8WU17", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WU17" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" }, { "database": "iPTMnet", "id": "Q8WU17", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WU17" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Successive 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Biol. Chem.", "date": "2009", "authors": "Irisawa M, Inoue J, Ozawa N, Mori K, Sato R", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" } ], "reference": [ { "type": "PubMed", "id": "19706601", "url": "https://glygen.org/publication/PubMed/19706601" } ] }, { "title": "The TRC8 E3 ligase ubiquitinates MHC class I molecules before dislocation from the ER.", "journal": "J. Cell Biol.", "date": "2009", "authors": "Stagg HR, Thomas M, van den Boomen D, Wiertz EJ, Drabkin HA, Gemmill RM, Lehner PJ", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" } ], "reference": [ { "type": "PubMed", "id": "19720873", "url": "https://glygen.org/publication/PubMed/19720873" } ] }, { "title": "The TRC8 ubiquitin ligase is sterol regulated and interacts with lipid and protein biosynthetic pathways.", "journal": "Mol. Cancer Res.", "date": "2010", "authors": "Lee JP, Brauweiler A, Rudolph M, Hooper JE, Drabkin HA, Gemmill RM", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" } ], "reference": [ { "type": "PubMed", "id": "20068067", "url": "https://glygen.org/publication/PubMed/20068067" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" }, { "database": "iPTMnet", "id": "Q8WU17", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WU17" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" }, { "database": "iPTMnet", "id": "Q8WU17", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WU17" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Sterol-induced degradation of HMG CoA reductase depends on interplay of two Insigs and two ubiquitin ligases, gp78 and Trc8.", "journal": "Proc. 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Biol. 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U.S.A.", "date": "1998", "authors": "Gemmill RM, West JD, Boldog F, Tanaka N, Robinson LJ, Smith DI, Li F, Drabkin HA", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" } ], "reference": [ { "type": "PubMed", "id": "9689122", "url": "https://glygen.org/publication/PubMed/9689122" } ] } ], "pathway": [ { "id": "hsa:11236", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:11236", "resource": "KEGG Pathway" }, { "id": "R-HSA-901032", "name": "ER Quality Control Compartment (ERQC)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032", "resource": "Reactome", "description": "ER Quality Control Compartment (ERQC)" } ], "orthologs": [ { "uniprot_canonical_ac": "M0RCM9-1", "protein_name": "Ring finger protein 139", "gene_name": "Rnf139", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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"https://www.uniprot.org/uniprot/Q8WU17" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" } ], "pmid": "" }, { "name": "Derlin-1 retrotranslocation complex", "id": "GO:0036513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036513", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" } ], "pmid": "" }, { "name": "endoplasmic reticulum quality control compartment", "id": "GO:0044322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044322", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 110, "end_pos": 112, "annotation": "n_glycosylation_sequon" }, { "start_pos": 261, "end_pos": 263, "annotation": "n_glycosylation_sequon" }, { "start_pos": 600, "end_pos": 602, "annotation": "n_glycosylation_sequon" }, { "start_pos": 611, "end_pos": 613, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Autoubiquitinated. Ubiquitination is induced by sterol and leads to ist degradation via the ubiquitin-proteasome pathway.", "evidence": [ { "database": "UniProtKB", "id": "Q8WU17", "url": "https://www.uniprot.org/uniprot/Q8WU17" }, { "database": "PubMed", "id": "19706601", "url": "https://glygen.org/publication/PubMed/19706601" } ] } ], "interactions": [], "reactions": [ { "id": "R-HSA-8867288", "name": "OS9:SEL1:ERAD E3 ligase:DERL2 ubiquitinates unfolded protein:(GlcNAc)2 (Man)9-5", "equation": "", "summary": "Proteins with major folding defects are extracted from futile folding cycles in the calnexin chaperone system and the ER Quality Control Compartment, and are translocated back to the cytosol for ER-associated degradation (ERAD). The N-glycan is used as a signal to distinguish proteins to be degraded, by direct binding to a ubiquitin ligase complex composed of, minimally, an E3 ubiquitin-protein ligase, protein sel-1 homolog 1 (SEL1L), derlin-2 (DERL2) and protein OS-9 (OS9) (Christianson et al. 2008, Bernasconi et al. 2008, Alcock & Swanton 2009; review Olzmann et al. 2013).", "cellular_location": "cytosol, endoplasmic reticulum membrane, endoplasmic reticulum quality control compartment", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q96GF1-1", "Q86TM6-1", "Q8WU17-1", "O00237-1", "Q99942-1", "Q9UKV5-1", "O60858-1", "O60337-4" ], "evidence": [ { "id": "R-HSA-8867288", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8867288" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O00237", "gene_name": "RNF103", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "O00237", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00237" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "O00237", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00237" } ] } ] }, { "uniprot_ac": "O60337", "gene_name": "MARCHF6", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "O60337", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60337" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "O60337", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60337" } ] } ] }, { "uniprot_ac": "O60858", "gene_name": "TRIM13", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "O60858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60858" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "O60858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60858" } ] } ] }, { "uniprot_ac": "Q86TM6", "gene_name": "SYVN1", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q86TM6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86TM6" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q86TM6", 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"https://www.uniprot.org/uniprot/Q96GF1" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q96GF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96GF1" } ] } ] }, { "uniprot_ac": "Q99942", "gene_name": "RNF5", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q99942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99942" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q99942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99942" } ] } ] }, { "uniprot_ac": "Q9UKV5", "gene_name": "AMFR", "activity": [ { "ec_number": "2.3.2.36", "activity": "[E2 ubiquitin-conjugating enzyme]-S-ubiquitinyl-L-cysteine + [acceptor protein]-L-cysteine = [E2 ubiquitin-conjugating 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