{ "uniprot_canonical_ac": "A0AVI4-1", "uniprot_ac": "A0AVI4", "uniprot_id": "TM129_HUMAN", "mass": { "chemical_mass": 40464.0, "monoisotopic_mass": 40464.0 }, "refseq": { "ac": "NP_001120738", "name": "E3 ubiquitin-protein ligase TM129 isoform a", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738" }, "gene_names": [ { "name": "TMEM129", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0AVI4", "id": "A0AVI4" }, { "name": "D4S2561E", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738", "id": "NP_001120738" }, { "name": "TMEM129", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738", "id": "NP_001120738" } ], "protein_names": [ { "name": "E3 ubiquitin-protein ligase TM129", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A0AVI4" }, { "name": "2.3.2.27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0AVI4" }, { "name": "E3 ubiquitin-protein ligase TM129 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738", "id": "NP_001120738" }, { "name": "E3 ubiquitin-protein ligase TM129; transmembrane protein 129, E3 ubiquitin protein ligase; RING-type E3 ubiquitin transferase TM129", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738", "id": "NP_001120738" }, { "name": "RING-type E3 ubiquitin transferase TM129", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0AVI4" } ], "function": [ { "annotation": "E3 ubiquitin-protein ligase involved in ER-associated protein degradation, preferentially associates with the E2 enzyme UBE2J2. Exploited by viral US11 proteins to mediate HLA class I proteins degradation.", "evidence": [ { "database": "UniProtKB", "id": "A0AVI4", "url": "https://www.uniprot.org/uniprot/A0AVI4#function" }, { "database": "PubMed", "id": "24807418", "url": "https://glygen.org/publication/PubMed/24807418" } ] }, { "annotation": "Identification of TMEM129, encoding a ubiquitin-protein ligase, as an effector gene of osteoarthritis genetic risk. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001120738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738" }, { "database": "PubMed", "id": "35941660", "url": "https://glygen.org/publication/PubMed/35941660" } ] }, { "annotation": "TMEM129 contains an unusual cysteine-only RING with intrinsic E3 ligase activity and is recruited to US11 via Derlin-1.", "evidence": [ { "database": "RefSeq", "id": "NP_001120738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738" }, { "database": "PubMed", "id": "25030448", "url": "https://glygen.org/publication/PubMed/25030448" } ] }, { "annotation": "TMEM129 is an integral part of the Endoplasmic Reticulum-resident dislocation complex mediating US11-induced HLA class I degradation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001120738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738" }, { "database": "PubMed", "id": "24807418", "url": "https://glygen.org/publication/PubMed/24807418" } ] }, { "annotation": "TRC8 and TMEM129 are endoplasmic reticulum-associated degradation ubiquitin E3 ligases for viral and cellular targeting of MHC class I. (Review) Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001120738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738" }, { "database": "PubMed", "id": "26210183", "url": "https://glygen.org/publication/PubMed/26210183" } ] }, { "annotation": "This insertion in the endoplasmic reticulum membrane positions the C-terminal really interesting new gene (RING) domain of TMEM129 in the cytosol, making it available to catalyze ubiquitination reactions that are required for cytosolic degradation of secretory proteins. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001120738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738" }, { "database": "PubMed", "id": "27854284", "url": "https://glygen.org/publication/PubMed/27854284" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "89.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168936", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "78.23", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168936", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "92.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168936", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168936", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "86.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168936", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "86.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168936", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168936", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "85.01", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168936", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168936", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "89.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168936", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168936" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A0AVI4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVI4" } ], "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": 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"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", 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": 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"BioXpress", "id": "A0AVI4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVI4" } ], "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": 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", 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"ENSP00000417412.1", "url": "https://www.ensembl.org/id/ENSP00000417412.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Chang CC, Warren DS, Sacksteder KA, Gould SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "10562279", "url": "https://glygen.org/publication/PubMed/10562279" } ] }, { "title": "The AAA ATPase Cdc48/p97 and its partners transport proteins from the ER into the cytosol.", "journal": "Nature", "date": "2001", "authors": "Ye Y, Meyer HH, Rapoport TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], 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"PubMed", "id": "27597759", "url": "https://glygen.org/publication/PubMed/27597759" } ] }, { "title": "The RING finger domain E3 ubiquitin ligases BRCA1 and the RNF20/RNF40 complex in global loss of the chromatin mark histone H2B monoubiquitination (H2Bub1) in cell line models and primary high-grade serous ovarian cancer.", "journal": "Human molecular genetics", "date": "2016", "authors": "Dickson KA, Cole AJ, Gill AJ, Clarkson A, Gard GB, Chou A, Kennedy CJ, Henderson BR, Fereday S, Traficante N, Alsop K, Bowtell DD, deFazio A, Clifton-Bligh R, Marsh DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "27798111", "url": "https://glygen.org/publication/PubMed/27798111" } ] }, { "title": "The E3 Ubiquitin Ligase TMEM129 Is a Tri-Spanning Transmembrane Protein.", "journal": "Viruses", "date": "2016", "authors": "van de Weijer ML, van Muijlwijk GH, Visser LJ, Costa AI, Wiertz EJ, Lebbink RJ", "evidence": [ { "database": "RefSeq", "id": "NP_001120738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738" } ], "reference": [ { "type": "PubMed", "id": "27854284", "url": "https://glygen.org/publication/PubMed/27854284" } ] }, { "title": "Identification of TMEM129, encoding a ubiquitin-protein ligase, as an effector gene of osteoarthritis genetic risk.", "journal": "Arthritis research & therapy", "date": "2022", "authors": "Brumwell A, Aubourg G, Hussain J, Parker E, Deehan DJ, Rice SJ, Loughlin J", "evidence": [ { "database": "RefSeq", "id": "NP_001120738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738" } ], "reference": [ { "type": "PubMed", "id": "35941660", "url": "https://glygen.org/publication/PubMed/35941660" } ] }, { "title": "The human cytomegalovirus US11 gene product dislocates MHC class I heavy chains from the endoplasmic reticulum to the cytosol.", "journal": "Cell", "date": "1996", "authors": "Wiertz EJ, Jones TR, Sun L, Bogyo M, Geuze HJ, Ploegh HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "8625414", "url": "https://glygen.org/publication/PubMed/8625414" } ] }, { "title": "Multiple PEX genes are required for proper subcellular distribution and stability of Pex5p, the PTS1 receptor: evidence that PTS1 protein import is mediated by a cycling receptor.", "journal": "The Journal of cell biology", "date": "1996", "authors": "Dodt G, Gould SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "8991089", "url": "https://glygen.org/publication/PubMed/8991089" } ] } ], "pathway": [ { "id": "hsa:92305", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:92305", "resource": "KEGG Pathway" }, { "id": "R-HSA-8866654", "name": "E3 ubiquitin ligases ubiquitinate target proteins", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654", "resource": "Reactome", "description": "E3 ubiquitin ligases ubiquitinate target proteins" } ], "orthologs": [ { "uniprot_canonical_ac": "B1WBR6-1", "protein_name": "Tmem129 protein", "gene_name": "Tmem129", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MDSPEVTFTLAYLVFAVCFVFTPNEFYSAGLTVQNLLSGWLGSEDAAFVPYHLRRTSATLLCHSLLPLGYYMGMCFAASEKQLYSPGQAPEAWQLFLLLAVTLPLVSCTLIYYWSWDRWARHPLAQTLALYALPQSGWQAVASSINTEFRRIDKFATGAPGARVIVTDTWVMKVTTYRVHVAQQQDVHLTVTESRQHDLSPDSNLPVQLLTIHVASTSPGAQPFDIRLNSSEYGELCEKLRAPIRSAANVVIRQSLGDLFLETFASLVEVNPAYSAPSNQELEACIGCMQTRASVKLVKTCQEPAVGECQQCYCRPMWCLTCMGKWFASRQDPQRPDTWLASRVPCPTCRARFCILDVCCVR", "length": 362 }, "evidence": [ { "id": "45925087", "url": "http://www.informatics.jax.org/homology/45925087", "database": "MGI" }, { "id": "A0AVI4", "url": "https://omabrowser.org/oma/group/A0AVI4/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8K304-1", "protein_name": "E3 ubiquitin-protein ligase TM129", "gene_name": "Tmem129", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDSPEVTFTLAYLVFAVCFVFTPNEFYSAGLTVQNLLSGWLGSEDAAFVPYHLRRTSATLLCHSLLPLGYYMGMCFAASEKQLYSPGQAPEAWQLFLLLAVTLPLLSCTLIYYWSWDRWTRHPLAQTLALYALPQSGWQAVASSINTEFRRIDKFATGAPGARVIVTDTWVMKVTTYRVHVAQQQDVHLTVTESRQHDLSPDSNLPVQLLTIRVASTSPGTQPFDIRLNSSEYGELCEKLHAPIRSAANVVIRQSLGDLFLETFASHVEVNPAYSVPSNQELEPCIGCMQTRASVKLVKTCQEPAVGECQQCYCRPMWCLTCMGKWFASRQDPQRPDTWLASRVPCPTCRARFCILDVCCVR", "length": 362 }, "evidence": [ { "id": "45925087", "url": "http://www.informatics.jax.org/homology/45925087", "database": "MGI" }, { "id": "A0AVI4", "url": "https://omabrowser.org/oma/group/A0AVI4/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VN16-1", "protein_name": "Uncharacterized protein, isoform A", "gene_name": "Dmel\\CG14646", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MDESELLFNLFYILLCMVIIYPPEEFQRLGFTIEQLFARFLGEEYLDFVGYHQRRTSLNLFVHSCLPFSYFLIHRLKFSVFATQEPLEDFDLDPDFPMPQEAVAFKTLTWKTAQRFSVLAVLAMPALIFNWHQENWRRHPISKALSKYSITPGSYSAVASEIGIEFRQPEIYKKKLNSISSVIATQNWIIKTTMYNVHFAHQSNTSLSVAKAETYNISHQDQNDTLQMISIIVRPMRQGVSDFHIRINALEFRNLENRVRRPIAIPSNIQLHRNVIDRFVDVFKAQVAQNPIFPDDATTEKCFACMLNEPNTKIHKQCADFDRNGAPLANGACCSNCYCRPMWCVECLARWFAARQSDVDREVWLEQKCTCPMCRAKFCVLDVSYITTTVDATNSTQSQGTEEDTNDTT", "length": 409 }, "evidence": [ { "id": "A0AVI4", "url": "https://omabrowser.org/oma/group/A0AVI4/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0AVI4", "url": "https://www.uniprot.org/uniprot/A0AVI4" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "A0AVI4", "url": "https://www.uniprot.org/uniprot/A0AVI4" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "A0AVI4", "url": "https://www.uniprot.org/uniprot/A0AVI4" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "A0AVI4", "url": "https://www.uniprot.org/uniprot/A0AVI4" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A0AVI4", "url": "https://www.uniprot.org/uniprot/A0AVI4" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "A0AVI4", "url": "https://www.uniprot.org/uniprot/A0AVI4" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "A0AVI4", "url": "https://www.uniprot.org/uniprot/A0AVI4" } ], "pmid": "" }, { "name": "ubiquitin-dependent ERAD pathway", "id": "GO:0030433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030433", "evidence": [ { "database": "UniProtKB", "id": "A0AVI4", "url": "https://www.uniprot.org/uniprot/A0AVI4" } ], "pmid": "" }, { "name": "response to unfolded protein", "id": "GO:0006986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006986", "evidence": [ { "database": "UniProtKB", "id": "A0AVI4", "url": "https://www.uniprot.org/uniprot/A0AVI4" } ], "pmid": "" }, { "name": "retrograde protein transport, ER to cytosol", "id": "GO:0030970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030970", "evidence": [ { "database": "UniProtKB", "id": "A0AVI4", "url": "https://www.uniprot.org/uniprot/A0AVI4" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 229, "end_pos": 231, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-8943080", "name": "TMEM129 polyubiquitinates HLA (MHC class I heavy chain) bound to cytomegalovirus US11", "equation": "", "summary": "The E3 ubiquitin ligase TMEM129 transfers ubiquitin from the E2 ubiquitin conjugases UBE2J2 and UBE2K to a MHC class I heavy chain bound by the human cytomegalovirus US11 protein (van de Weijer et al. 2014, van den Boomen et al. 2014, Flierman et al. 2006, reviewed in van den Boomen and Lehner 2015). TMEM129 is located in the endoplasmic reticulum membrane in a complex containing DERL1, UBE2J2 and UBE2K, VIMP and VCP. After polyubiquitination, MHC class I heavy chain is retrotranslocated by the AAA ATPase VCP to the cytosol (Ye et al. 2001) where it is deglycosylated by NGLYI and degraded by the proteasome (Wiertz et al. 1996). US11 is released after the reaction and, if unable to bind another MHC I heavy chain, US11 is ubiquitinated by the HRD1-SEL1L E3 ubiquitin ligase complex and itself degraded by the proteasome (van den Boomen et al. 2014). This self-regulatory loop allows the amount of US11 in the cell to be buffered against the amount of MHC I molecules.", "cellular_location": "endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P55072-1", "A0AVI4-1", "Q8N2K1-1" ], "evidence": [ { "id": "R-HSA-8943080", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943080" } ] }, { "id": "R-HSA-8943083", "name": "US11:HLA binds DERL1:TMEM129:Ub:UBE2J2,UBE2K:VIMP:VCP", "equation": "", "summary": "The human cytomegalovirus US11 protein interacts with a MHC class I heavy chain and recruits the heavy chain to the TMEM129 E3 ubiquitin ligase complex comprising TMEM129, its cognate E2 conjugases UBE2J2 and UBE2K, and the VCP complex (VCP:VIMP) via the rhomboid pseudo-protease DERL1 (van de Weijer et al. 2014, van den Boomen et al. 2014, Flierman 2006, Lilley et al. 2004, Ye et al. 2004, Ye et al. 2001).", "cellular_location": "endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P55072-1", "A0AVI4-1", "Q8N2K1-1" ], "evidence": [ { "id": "R-HSA-8943083", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943083" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A0AVI4", "gene_name": "TMEM129", "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": "A0AVI4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0AVI4" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "A0AVI4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0AVI4" } ] } ] }, { "uniprot_ac": "P55072", "gene_name": "VCP", "activity": [ { "ec_number": "3.6.4.6", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] }, { "ec_number": "3.6.4.6", "activity": "", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] } ] }, { "uniprot_ac": "Q8N2K1", "gene_name": "UBE2J2", "activity": [ { "ec_number": "2.3.2.23", "activity": "S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [E2 ubiquitin-conjugating enzyme]-L-cysteine = [E1 ubiquitin-activating enzyme]-L-cysteine + S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine.", "evidence": [ { "id": "Q8N2K1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N2K1" } ] }, { "ec_number": "2.3.2.23", "activity": "", "evidence": [ { "id": "Q8N2K1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N2K1" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 229, "end_pos": 231 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], 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