{ "uniprot_canonical_ac": "A0AVI4-1", "ptm_annotation": [], "sequence": { "header": "sp|A0AVI4-1|TM129_HUMAN Isoform 1 of E3 ubiquitin-protein ligase TM129 OS=Homo sapiens OX=9606 GN=TMEM129 PE=1 SV=1 CANONICAL=A0AVI4-1", "length": 362, "sequence": "MDSPEVTFTLAYLVFAVCFVFTPNEFHAAGLTVQNLLSGWLGSEDAAFVPFHLRRTAATLLCHSLLPLGYYVGMCLAASEKRLHALSQAPEAWRLFLLLAVTLPSIACILIYYWSRDRWACHPLARTLALYALPQSGWQAVASSVNTEFRRIDKFATGAPGARVIVTDTWVMKVTTYRVHVAQQQDVHLTVTESRQHELSPDSNLPVQLLTIRVASTNPAVQAFDIWLNSTEYGELCEKLRAPIRRAAHVVIHQSLGDLFLETFASLVEVNPAYSVPSSQELEACIGCMQTRASVKLVKTCQEAATGECQQCYCRPMWCLTCMGKWFASRQDPLRPDTWLASRVPCPTCRARFCILDVCTVR" }, "uniprot_id": "TM129_HUMAN", "enzyme_annotation": [ { "ec": "2.3.2.27", "activity": "" }, { "ec": "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." } ], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4", "id": "A0AVI4", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20348956", "type": [ "PubMed" ], "id": "20348956" } ], "title": "A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.", "journal": "Nature genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "id": "NP_001120738.1", "database": "RefSeq" } ], "authors": "Kiemeney LA, Sulem P, Besenbacher S, Vermeulen SH, Sigurdsson A, Thorleifsson G, Gudbjartsson DF, Stacey SN, Gudmundsson J, Zanon C, Kostic J, Masson G, Bjarnason H, Palsson ST, Skarphedinsson OB, Gudjonsson SA, Witjes JA, Grotenhuis AJ, Verhaegh GW, Bishop DT, Sak SC, Choudhury A, Elliott F, Barrett JH, Hurst CD, de Verdier PJ, Ryk C, Rudnai P, Gurzau E, Koppova K, Vineis P, Polidoro S, Guarrera S, Sacerdote C, Campagna M, Placidi D, Arici C, Zeegers MP, Kellen E, Gutierrez BS, Sanz-Velez JI, Sanchez-Zalabardo M, Valdivia G, Garcia-Prats MD, Hengstler JG, Blaszkewicz M, Dietrich H, Ophoff RA, van den Berg LH, Alexiusdottir K, Kristjansson K, Geirsson G, Nikulasson S, Petursdottir V, Kong A, Thorgeirsson T, Mungan NA, Lindblom A, van Es MA, Porru S, Buntinx F, Golka K, Mayordomo JI, Kumar R, Matullo G, Steineck G, Kiltie AE, Aben KK, Jonsson E, Thorsteinsdottir U, Knowles MA, Rafnar T, Stefansson K", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20972438", "type": [ "PubMed" ], "id": "20972438" } ], "title": "A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.", "journal": "Nature genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "id": "NP_001120738.1", "database": "RefSeq" } ], "authors": "Rothman N, Garcia-Closas M, Chatterjee N, Malats N, Wu X, Figueroa JD, Real FX, Van Den Berg D, Matullo G, Baris D, Thun M, Kiemeney LA, Vineis P, De Vivo I, Albanes D, Purdue MP, Rafnar T, Hildebrandt MA, Kiltie AE, Cussenot O, Golka K, Kumar R, Taylor JA, Mayordomo JI, Jacobs KB, Kogevinas M, Hutchinson A, Wang Z, Fu YP, Prokunina-Olsson L, Burdett L, Yeager M, Wheeler W, Tardon A, Serra C, Carrato A, Garcia-Closas R, Lloreta J, Johnson A, Schwenn M, Karagas MR, Schned A, Andriole G Jr, Grubb R 3rd, Black A, Jacobs EJ, Diver WR, Gapstur SM, Weinstein SJ, Virtamo J, Cortessis VK, Gago-Dominguez M, Pike MC, Stern MC, Yuan JM, Hunter DJ, McGrath M, Dinney CP, Czerniak B, Chen M, Yang H, Vermeulen SH, Aben KK, Witjes JA, Makkinje RR, Sulem P, Besenbacher S, Stefansson K, Riboli E, Brennan P, Panico S, Navarro C, Allen NE, Bueno-de-Mesquita HB, Trichopoulos D, Caporaso N, Landi MT, Canzian F, Ljungberg B, Tjonneland A, Clavel-Chapelon F, Bishop DT, Teo MT, Knowles MA, Guarrera S, Polidoro S, Ricceri F, Sacerdote C, Allione A, Cancel-Tassin G, Selinski S, Hengstler JG, Dietrich H, Fletcher T, Rudnai P, Gurzau E, Koppova K, Bolick SC, Godfrey A, Xu Z, Sanz-Velez JI, D Garcia-Prats M, Sanchez M, Valdivia G, Porru S, Benhamou S, Hoover RN, Fraumeni JF Jr, Silverman DT, Chanock SJ", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24807418", "type": [ "PubMed" ], "id": "24807418" } ], "title": "A high-coverage shRNA screen identifies TMEM129 as an E3 ligase involved in ER-associated protein degradation.", "journal": "Nat. Commun.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4", "id": "A0AVI4", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "id": "NP_001120738.1", "database": "RefSeq" } ], "authors": "Chen S., Kremmer E., Wiertz E.J., Lebbink R.J., Weissman J.S., Hoeben R.C., Ressing M.E., Bassik M.C., Hoelen H., Leproust E.M., Lohuis M.A., Luteijn R.D., McManus M.T., Patena W., Voorburg C.M., van de Weijer M.L.", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25030448", "type": [ "PubMed" ], "id": "25030448" } ], "title": "TMEM129 is a Derlin-1 associated ERAD E3 ligase essential for virus-induced degradation of MHC-I.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "id": "NP_001120738.1", "database": "RefSeq" } ], "authors": "van den Boomen DJ, Timms RT, Grice GL, Stagg HR, Skodt K, Dougan G, Nathan JA, Lehner PJ", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26210183", "type": [ "PubMed" ], "id": "26210183" } ], "title": "Identifying the ERAD ubiquitin E3 ligases for viral and cellular targeting of MHC class I.", "journal": "Molecular immunology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "id": "NP_001120738.1", "database": "RefSeq" } ], "authors": "van den Boomen DJ, Lehner PJ", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27854284", "type": [ "PubMed" ], "id": "27854284" } ], "title": "The E3 Ubiquitin Ligase TMEM129 Is a Tri-Spanning Transmembrane Protein.", "journal": "Viruses", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "id": "NP_001120738.1", "database": "RefSeq" } ], "authors": "van de Weijer ML, van Muijlwijk GH, Visser LJ, Costa AI, Wiertz EJ, Lebbink RJ", "date": "2016" } ], "uniprot_ac": "A0AVI4", "site_annotation": [ { "end_pos": 231, "annotation": "n_glycosylation_sequon", "start_pos": 229 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4#A0AVI4-1", "isoform_ac": "A0AVI4-1", "locus": { "end_pos": 1717183, "strand": "+", "start_pos": 1720837, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000536901", "id": "ENST00000536901", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000441812", "id": "ENSP00000441812", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0AVI4-1|TM129_HUMAN Isoform 1 of E3 ubiquitin-protein ligase TM129 OS=Homo sapiens OX=9606 GN=TMEM129 PE=1 SV=1 CANONICAL=A0AVI4-1", "length": 362, "sequence": "MDSPEVTFTLAYLVFAVCFVFTPNEFHAAGLTVQNLLSGWLGSEDAAFVPFHLRRTAATLLCHSLLPLGYYVGMCLAASEKRLHALSQAPEAWRLFLLLAVTLPSIACILIYYWSRDRWACHPLARTLALYALPQSGWQAVASSVNTEFRRIDKFATGAPGARVIVTDTWVMKVTTYRVHVAQQQDVHLTVTESRQHELSPDSNLPVQLLTIRVASTNPAVQAFDIWLNSTEYGELCEKLRAPIRRAAHVVIHQSLGDLFLETFASLVEVNPAYSVPSSQELEACIGCMQTRASVKLVKTCQEAATGECQQCYCRPMWCLTCMGKWFASRQDPLRPDTWLASRVPCPTCRARFCILDVCTVR" } }, { "url": "https://www.uniprot.org/uniprot/A0AVI4#A0AVI4-2", "isoform_ac": "A0AVI4-2", "locus": { "end_pos": 1717413, "strand": "+", "start_pos": 1720837, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000303277", "id": "ENST00000303277", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000305243", "id": "ENSP00000305243", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0AVI4-2|TM129_HUMAN Isoform 2 of E3 ubiquitin-protein ligase TM129 OS=Homo sapiens OX=9606 GN=TMEM129 PE=1 SV=1 CANONICAL=A0AVI4-1", "length": 232, "sequence": "MDSPEVTFTLAYLVFAVCFVFTPNEFHAAGLTVQNLLSGWLGSEDAAFVPFHLRRTAATLLCHSLLPLGYYVGMCLAASEKRLHALSQAPEAWRLFLLLAVTLPSIACILIYYWSRDRWACHPLARTLALYALPQSGWQAVASSVNTEFRRIDKFATGAPGARVIVTDTWVMKVTTYRVHVAQQQDVHLTVTESRQHELSPDSNLPVQLLTIRVASTNPAVQAFDIWSWRPA" } }, { "url": "https://www.uniprot.org/uniprot/A0AVI4#H7C4G7-1", "isoform_ac": "H7C4G7-1", "locus": { "end_pos": 1719102, "strand": "+", "start_pos": 1720781, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000480360", "id": "ENST00000480360", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000417259", "id": "ENSP00000417259", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C4G7-1|TM129_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase TM129 OS=Homo sapiens OX=9606 GN=TMEM129 PE=1 SV=1 CANONICAL=A0AVI4-1", "length": 92, "sequence": "XVFTPNEFHAAGLTVQNLLSGWLGSEDAAFVPFHLRRTAATLLCHSLLPLVTGPTPNVDYYFLPTGTCWCNSSPSPWLIWTFKLSSIWPAGP" } }, { "url": "https://www.uniprot.org/uniprot/A0AVI4#H7C4I8-1", "isoform_ac": "H7C4I8-1", "locus": { "end_pos": 1718152, "strand": "+", "start_pos": 1718235, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000460722", "id": "ENST00000460722", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000417412", "id": "ENSP00000417412", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C4I8-1|TM129_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase TM129 OS=Homo sapiens OX=9606 GN=TMEM129 PE=1 SV=1 CANONICAL=A0AVI4-1", "length": 28, "sequence": "XSPDSNLPVQLLTIRVASTNPAVQAFDI" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:92305", "resource": "KEGG Pathway", "id": "hsa:92305", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654", "resource": "Reactome", "id": "R-HSA-8866654", "name": "E3 ubiquitin ligases ubiquitinate target proteins" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/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": [ { "url": "https://www.uniprot.org/uniprot/A0AVI4#function", "id": "A0AVI4", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "annotation": "TMEM129 contains an unusual cysteine-only RING with intrinsic E3 ligase activity and is recruited to US11 via Derlin-1.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "id": "NP_001120738.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "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": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "id": "NP_001120738.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "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": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "id": "NP_001120738.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "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": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738.1", "id": "NP_001120738.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "B1WBR6-1", "protein_name": "Tmem129 protein", "sequence": { "length": 362, "sequence": "MDSPEVTFTLAYLVFAVCFVFTPNEFYSAGLTVQNLLSGWLGSEDAAFVPYHLRRTSATLLCHSLLPLGYYMGMCFAASEKQLYSPGQAPEAWQLFLLLAVTLPLVSCTLIYYWSWDRWARHPLAQTLALYALPQSGWQAVASSINTEFRRIDKFATGAPGARVIVTDTWVMKVTTYRVHVAQQQDVHLTVTESRQHDLSPDSNLPVQLLTIHVASTSPGAQPFDIRLNSSEYGELCEKLRAPIRSAANVVIRQSLGDLFLETFASLVEVNPAYSAPSNQELEACIGCMQTRASVKLVKTCQEPAVGECQQCYCRPMWCLTCMGKWFASRQDPQRPDTWLASRVPCPTCRARFCILDVCCVR" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/44528", "id": "44528", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Tmem129", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8K304-1", "protein_name": "E3 ubiquitin-protein ligase TM129", "sequence": { "length": 362, "sequence": "MDSPEVTFTLAYLVFAVCFVFTPNEFYSAGLTVQNLLSGWLGSEDAAFVPYHLRRTSATLLCHSLLPLGYYMGMCFAASEKQLYSPGQAPEAWQLFLLLAVTLPLLSCTLIYYWSWDRWTRHPLAQTLALYALPQSGWQAVASSINTEFRRIDKFATGAPGARVIVTDTWVMKVTTYRVHVAQQQDVHLTVTESRQHDLSPDSNLPVQLLTIRVASTSPGTQPFDIRLNSSEYGELCEKLHAPIRSAANVVIRQSLGDLFLETFASHVEVNPAYSVPSNQELEPCIGCMQTRASVKLVKTCQEPAVGECQQCYCRPMWCLTCMGKWFASRQDPQRPDTWLASRVPCPTCRARFCILDVCCVR" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/44528", "id": "44528", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Tmem129", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "P", "start_pos": 206, "alt_nt": "A", "chr_id": "4", "ref_nt": "G", "chr_pos": "1719943", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVI4", "id": "A0AVI4", "database": "BioMuta" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "frequency": "2.0", "sequence_mut": "S", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 206, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "C", "start_pos": 322, "alt_nt": "T", "chr_id": "4", "ref_nt": "C", "chr_pos": "1719031", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVI4", "id": "A0AVI4", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "Y", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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