{ "uniprot_canonical_ac": "A2RU30-1", "ptm_annotation": [ { "annotation": "May be phosphorylated in response to store-operated Ca(+2) entry.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU30", "id": "A2RU30", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/", "id": "", "database": "PubMed" } ] } ], "sequence": { "header": "sp|A2RU30-1|TESP1_HUMAN Isoform 1 of Protein TESPA1 OS=Homo sapiens OX=9606 GN=TESPA1 PE=1 SV=2 CANONICAL=A2RU30-1", "length": 521, "sequence": "MEASVLSPTSWEKRRAWLRQSRNWQTQVLEEEAAAALQDVPDPEPSSLDDVFQEGNPINKIEDWLQDCGYSEEGFSEEAGQFIYNGFCSHGTSFEDDLTLGAEATLLAANGKLFSRSFLETARPCQLLDLGCSLASSSMTGGTNKTSSSISEILDKVQEDAEDVLFSLGFGQEDHKDTSRIPARFFTTPSQAKGIDFQLFLKSQVRRIEMEDPCLMLASRFKQVQTLAVTADAFFCLYSYVSKTPVQKFTPSHMFWNCNHPTDVPSIRILSREPEPQSPRDRLRKAISKMCLYTCPRDRPPPPHNTPKRNSLDQVVLEVMDKVKEEKQFLQQDSDLGQFSQEDPVPPAEGKKLPTSPYPCVFCCEEETQQRMSTVLAPSQTLDSNPKVPCCTHSLPIEDPQWSTDPAQIRRELCSLPATNTETHPAKDETFWKRKSRARKSLFQKNLMGRKVKSLDLSITQQKWKQSVDRPELRRSLSQQPQDTFDLEEVQSNSEEEQSQSRWPSRPRHPHHHQTFAGKDS" }, "uniprot_id": "TESP1_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU30", "id": "A2RU30", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20628086", "type": [ "PubMed" ], "id": "20628086" } ], "title": "Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.", "journal": "Diabetes care", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285.1", "id": "NP_001092285.1", "database": "RefSeq" } ], "authors": "Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22561606", "type": [ "PubMed" ], "id": "22561606" } ], "title": "Tespa1 is involved in late thymocyte development through the regulation of TCR-mediated signaling.", "journal": "Nat. Immunol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU30", "id": "A2RU30", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285.1", "id": "NP_001092285.1", "database": "RefSeq" } ], "authors": "Wang J., Wang L., Zhang X., Cao X., Lu L., Wang D., He Y., Lou J., Qiu Y., Yao Y., Zheng M., Ma L., Ji J., Chi J., Lei L., Kuang Y., Ouyang C.", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23501103", "type": [ "PubMed" ], "id": "23501103" } ], "title": "Tespa1 is a novel component of mitochondria-associated endoplasmic reticulum membranes and affects mitochondrial calcium flux.", "journal": "Biochem. Biophys. Res. Commun.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU30", "id": "A2RU30", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285.1", "id": "NP_001092285.1", "database": "RefSeq" } ], "authors": "Fujimoto T., Tanaka M., Matsuzaki H., Shirasawa S.", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23541577", "type": [ "PubMed" ], "id": "23541577" } ], "title": "Tespa1 protein is phosphorylated in response to store-operated calcium entry.", "journal": "Biochemical and biophysical research communications", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285.1", "id": "NP_001092285.1", "database": "RefSeq" } ], "authors": "Fujimoto T, Matsuzaki H, Tanaka M, Shirasawa S", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23650607", "type": [ "PubMed" ], "id": "23650607" } ], "title": "Tespa1 is a novel inositol 1,4,5-trisphosphate receptor binding protein in T and B lymphocytes.", "journal": "FEBS Open Bio", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU30", "id": "A2RU30", "database": "UniProtKB" } ], "authors": "Ota T., Fujimoto T., Ogawa M., Tanaka M., Matsuzaki H., Tsunoda T., Doi K., Shirasawa S., Hamabashiri M.", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24893580", "type": [ "PubMed" ], "id": "24893580" } ], "title": "Lack of association between TESPA1 gene polymorphisms (rs1801876, rs2171497, rs4758994, and rs997173) and ankylosing spondylitis in a Chinese population.", "journal": "Inflammation", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285.1", "id": "NP_001092285.1", "database": "RefSeq" } ], "authors": "Liu S, Liu L, Wu S, Yang T, Pan F, Laslett L, Xia G, Hu Y, Fan D, Ding N, Xu S, Cai G, Wang L, Xin L", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25736038", "type": [ "PubMed" ], "id": "25736038" } ], "title": "Tespa1 is associated with susceptibility but not severity of rheumatoid arthritis in the Zhejiang Han population in China.", "journal": "Clinical rheumatology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285.1", "id": "NP_001092285.1", "database": "RefSeq" } ], "authors": "Yao Y, Zhang H, Shao S, Cui G, Zhang T, Sun H", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28598420", "type": [ "PubMed" ], "id": "28598420" } ], "title": "Tespa1 regulates T cell receptor-induced calcium signals by recruiting inositol 1,4,5-trisphosphate receptors.", "journal": "Nature communications", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285.1", "id": "NP_001092285.1", "database": "RefSeq" } ], "authors": "Liang J, Lyu J, Zhao M, Li D, Zheng M, Fang Y, Zhao F, Lou J, Guo C, Wang L, Wang D, Liu W, Lu L", "date": "2017" } ], "uniprot_ac": "A2RU30", "site_annotation": [ { "end_pos": 146, "annotation": "n_glycosylation_sequon", "start_pos": 144 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2RU30#A2RU30-1", "isoform_ac": "A2RU30-1", "locus": { "end_pos": 54961172, "strand": "+", "start_pos": 54974562, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000316577", "id": "ENST00000316577", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000312679", "id": "ENSP00000312679", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RU30-1|TESP1_HUMAN Isoform 1 of Protein TESPA1 OS=Homo sapiens OX=9606 GN=TESPA1 PE=1 SV=2 CANONICAL=A2RU30-1", "length": 521, "sequence": "MEASVLSPTSWEKRRAWLRQSRNWQTQVLEEEAAAALQDVPDPEPSSLDDVFQEGNPINKIEDWLQDCGYSEEGFSEEAGQFIYNGFCSHGTSFEDDLTLGAEATLLAANGKLFSRSFLETARPCQLLDLGCSLASSSMTGGTNKTSSSISEILDKVQEDAEDVLFSLGFGQEDHKDTSRIPARFFTTPSQAKGIDFQLFLKSQVRRIEMEDPCLMLASRFKQVQTLAVTADAFFCLYSYVSKTPVQKFTPSHMFWNCNHPTDVPSIRILSREPEPQSPRDRLRKAISKMCLYTCPRDRPPPPHNTPKRNSLDQVVLEVMDKVKEEKQFLQQDSDLGQFSQEDPVPPAEGKKLPTSPYPCVFCCEEETQQRMSTVLAPSQTLDSNPKVPCCTHSLPIEDPQWSTDPAQIRRELCSLPATNTETHPAKDETFWKRKSRARKSLFQKNLMGRKVKSLDLSITQQKWKQSVDRPELRRSLSQQPQDTFDLEEVQSNSEEEQSQSRWPSRPRHPHHHQTFAGKDS" } }, { "url": "https://www.uniprot.org/uniprot/A2RU30#A2RU30-2", "isoform_ac": "A2RU30-2", "locus": { "end_pos": 54961172, "strand": "+", "start_pos": 54966084, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000532804", "id": "ENST00000532804", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000432030", "id": "ENSP00000432030", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RU30-2|TESP1_HUMAN Isoform 2 of Protein TESPA1 OS=Homo sapiens OX=9606 GN=TESPA1 PE=1 SV=2 CANONICAL=A2RU30-1", "length": 383, "sequence": "MTGGTNKTSSSISEILDKVQEDAEDVLFSLGFGQEDHKDTSRIPARFFTTPSQAKGIDFQLFLKSQVRRIEMEDPCLMLASRFKQVQTLAVTADAFFCLYSYVSKTPVQKFTPSHMFWNCNHPTDVPSIRILSREPEPQSPRDRLRKAISKMCLYTCPRDRPPPPHNTPKRNSLDQVVLEVMDKVKEEKQFLQQDSDLGQFSQEDPVPPAEGKKLPTSPYPCVFCCEEETQQRMSTVLAPSQTLDSNPKVPCCTHSLPIEDPQWSTDPAQIRRELCSLPATNTETHPAKDETFWKRKSRARKSLFQKNLMGRKVKSLDLSITQQKWKQSVDRPELRRSLSQQPQDTFDLEEVQSNSEEEQSQSRWPSRPRHPHHHQTFAGKDS" } }, { "url": "https://www.uniprot.org/uniprot/A2RU30#A2RU30-3", "isoform_ac": "A2RU30-3", "locus": {}, "sequence": { "header": "sp|A2RU30-3|TESP1_HUMAN Isoform 3 of Protein TESPA1 OS=Homo sapiens OX=9606 GN=TESPA1 PE=1 SV=2 CANONICAL=A2RU30-1", "length": 394, "sequence": "MTGGTNKTSSSISEILDKVQEDAEDVLFSLGFGQEDHKDTSRIPARFFTTPSQAKGIDFQLFLKSQVRRIEMEDPCLMLASRFKQVQTLAVTADAFFCLYSYVSKTPVQKFTPSHMFWNCNHPTDVPSIRILSREPEPQSPRDRLRKAISKMCLYTCPRDRPPPPHNTPKRNSLDQVVLEVMDKVKEEKQFLQQDSDLGQFSQEDPVPPAEGKKLPTSPYPCVFCCEEETQQRMSTVLAPSQTLDSNPKVPCCTHSLPIEDPQWSTDPAQIRRELCSLPATNTETHPAKDETFWKRKSRARKSLFQKNLMGRKVKSLDLSITQQKWKQSVDRPELRRSLSQQPQDTFDLEEVQSNSEEEQSQSRWPSRPRHPHHHQTFAGKFVKLSPPPQQHVV" } }, { "url": "https://www.uniprot.org/uniprot/A2RU30#E9PHY9-1", "isoform_ac": "E9PHY9-1", "locus": { "end_pos": 54967853, "strand": "+", "start_pos": 54974562, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000524668", "id": "ENST00000524668", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000436635", "id": "ENSP00000436635", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E9PHY9-1|TESP1_HUMAN Computationally mapped isoform of Protein TESPA1 OS=Homo sapiens OX=9606 GN=TESPA1 PE=1 SV=1 CANONICAL=A2RU30-1", "length": 82, "sequence": "MEASVLSPTSWEKRRAWLRQSRNWQTQVLEEEAAAALQDVPDPEPSSLDDVFQEGNPINKIEDWLQDCGYSEEGFSEEAGQF" } }, { "url": "https://www.uniprot.org/uniprot/A2RU30#E9PIN8-1", "isoform_ac": "E9PIN8-1", "locus": { "end_pos": 54963803, "strand": "+", "start_pos": 54966084, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000533446", "id": "ENST00000533446", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000435734", "id": "ENSP00000435734", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E9PIN8-1|TESP1_HUMAN Computationally mapped isoform of Protein TESPA1 OS=Homo sapiens OX=9606 GN=TESPA1 PE=1 SV=8 CANONICAL=A2RU30-1", "length": 60, "sequence": "MTGGTNKTSSSISEILDKVQEDAEDVLFSLGFGQEDHKDTSRIPARFFTTPSQAKGIDFQ" } }, { "url": "https://www.uniprot.org/uniprot/A2RU30#E9PIT9-1", "isoform_ac": "E9PIT9-1", "locus": { "end_pos": 54974422, "strand": "+", "start_pos": 54974562, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000533607", "id": "ENST00000533607", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000433895", "id": "ENSP00000433895", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E9PIT9-1|TESP1_HUMAN Computationally mapped isoform of Protein TESPA1 OS=Homo sapiens OX=9606 GN=TESPA1 PE=1 SV=8 CANONICAL=A2RU30-1", "length": 47, "sequence": "MEASVLSPTSWEKRRAWLRQSRNWQTQVLEEEAAAALQDVPDPEPSS" } }, { "url": "https://www.uniprot.org/uniprot/A2RU30#E9PM24-1", "isoform_ac": "E9PM24-1", "locus": { "end_pos": 54963743, "strand": "+", "start_pos": 54966084, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000526532", "id": "ENST00000526532", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000433187", "id": "ENSP00000433187", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E9PM24-1|TESP1_HUMAN Computationally mapped isoform of Protein TESPA1 OS=Homo sapiens OX=9606 GN=TESPA1 PE=1 SV=1 CANONICAL=A2RU30-1", "length": 80, "sequence": "MTGGTNKTSSSISEILDKVQEDAEDVLFSLGFGQEDHKDTSRIPARFFTTPSQAKGIDFQLFLKSQVRRIEMEDPCLMLA" } }, { "url": "https://www.uniprot.org/uniprot/A2RU30#E9PN46-1", "isoform_ac": "E9PN46-1", "locus": { "end_pos": 54963236, "strand": "+", "start_pos": 54966084, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000524923", "id": "ENST00000524923", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000434811", "id": "ENSP00000434811", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E9PN46-1|TESP1_HUMAN Computationally mapped isoform of Protein TESPA1 OS=Homo sapiens OX=9606 GN=TESPA1 PE=1 SV=1 CANONICAL=A2RU30-1", "length": 67, "sequence": "MTGGTNKTSSSISEILDKVQEDAEDVLFSLGFGQEDHKDTSRIPARFFTTPSQAKGIDFQLFLKSQV" } }, { "url": "https://www.uniprot.org/uniprot/A2RU30#E9PPW8-1", "isoform_ac": "E9PPW8-1", "locus": { "end_pos": 54950332, "strand": "+", "start_pos": 54966084, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000532757", "id": "ENST00000532757", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000436286", "id": "ENSP00000436286", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E9PPW8-1|TESP1_HUMAN Computationally mapped isoform of Protein TESPA1 OS=Homo sapiens OX=9606 GN=TESPA1 PE=1 SV=1 CANONICAL=A2RU30-1", "length": 100, "sequence": "MTGGTNKTSSSISEILDKVQEDAEDVLFSLGFGQEDHKDTSRIPARFFTTPSQAKGIDFQLFLKSQVRRIEMEDPCLMLASFLHHHNSMWSDRIGFKEET" } }, { "url": "https://www.uniprot.org/uniprot/A2RU30#H0YDP3-1", "isoform_ac": "H0YDP3-1", "locus": { "end_pos": 54967976, "strand": "+", "start_pos": 54974558, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000525978", "id": "ENST00000525978", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000434039", "id": "ENSP00000434039", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0YDP3-1|TESP1_HUMAN Computationally mapped isoform of Protein TESPA1 OS=Homo sapiens OX=9606 GN=TESPA1 PE=1 SV=1 CANONICAL=A2RU30-1", "length": 80, "sequence": "XASVLSPTSWEKRRAWLRQSRNWQTQVLEEEAAAALQDVPDPEPSSLDDVFQEGNPINKIEDWLQDCGKLNTTDSHWKRI" } }, { "url": "https://www.uniprot.org/uniprot/A2RU30#H0YEX3-1", "isoform_ac": "H0YEX3-1", "locus": { "end_pos": 54950211, "strand": "+", "start_pos": 54962697, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000528240", "id": "ENST00000528240", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000436753", "id": "ENSP00000436753", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0YEX3-1|TESP1_HUMAN Computationally mapped isoform of Protein TESPA1 OS=Homo sapiens OX=9606 GN=TESPA1 PE=1 SV=1 CANONICAL=A2RU30-1", "length": 149, "sequence": "QWSTDPAQIRRELCSLPATNTETHPAKDETFWKRKSRARKSLFQKNLMGRKVKSLDLSITQQKWKQSVDRPELRRSLSQQPQDTFDLEEAFSTTTTACGLTELASKKKLKATSCRKLHCPQHPAPTPWSSKPPNSAGERQHGTWGGRPD" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9840", "resource": "KEGG Pathway", "id": "hsa:9840", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285.1", "annotation": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285.1", "id": "NP_001092285.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A2RU30#function", "annotation": "Required for the development and maturation of T-cells, its function being essential for the late stages of thymocyte development (By similarity). Plays a role in T-cell antigen receptor (TCR)-mediated activation of the ERK and NFAT signaling pathways, possibly by serving as a scaffolding protein that promotes the assembly of the LAT signalosome in thymocytes. May play a role in the regulation of inositol 1,4,5-trisphosphate receptor-mediated Ca(2+) release and mitochondrial Ca(2+) uptake via the mitochondria-associated endoplasmic reticulum membrane (MAM) compartment.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU30#function", "id": "A2RU30", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285.1", "annotation": "Tespa1 functions in T cell development and the regulation of TCR-induced Ca(2+) signalling through IP3R1 Erratum:[Nat Commun. 2018 Mar 12;9:16183. PMID: 29528040] Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285.1", "id": "NP_001092285.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285.1", "annotation": "Tespa1 hay have a role in susceptibility but not severity of rheumatoid arthritis in the Zhejiang Han population in China", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285.1", "id": "NP_001092285.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285.1", "annotation": "Tespa1 is a novel component of mitochondria-associated endoplasmic reticulum membranes and affects mitochondrial calcium flux.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285.1", "id": "NP_001092285.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285.1", "annotation": "Tespa1 is post-translationally modified upon intracellular divalent calcium-ion Ca2+ increase in thymocytes.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285.1", "id": "NP_001092285.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285.1", "annotation": "The TESPA1 gene was found to not be involved in ankylosing spondylitis in a Chinese population.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285.1", "id": "NP_001092285.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q3U132-1", "protein_name": "Protein TESPA1", "sequence": { "length": 458, "sequence": "MEASVLSPTSWEKRRAWLRQSRNWQTQVLEEEAAAALQDALDPEPSSLDDVFQEGNPINKIEDWLQGCGCRDTEEGLSEESGQSNYSGYSSHGTSFEDDLSLGAEATLLSTNGNLFSRNFLQTPRLCQLLDLGSSLASSSMTGGTNKTSSSISEILDQVQEDAEDILFSLGFGHENHKDTSRIPARFFSNPSQAKGINFQLFLKSQVQRMEMEDPCLMLASRFKQVQTLAVTADAFFCLYSYVSKTPVQKFTPSNMFWNFDPTDVPSIRILAPEPEPYSPRERLRRAISKMCLYTGSRDRLSSSYNNPKKNSLDQIVWEVMDRVKGEKIQQDPEHRQALGEESVPPIQNTNPSTSSLPCVSYPKEETQGDMCHAHALARPGPQYHINSTQVRRQLWVLQDINEKPRSAENESPWERKSKARKNLFQRVPVDKNIKSLNLPTIQQKQNQGQARHELTNL" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/106645", "id": "106645", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "R", "start_pos": 297, "alt_nt": "A", "chr_id": "12", "ref_nt": "G", "chr_pos": "55356793", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU30", "id": "A2RU30", "database": "BioMuta" } ], "frequency": "2.4", "sequence_mut": "*", "subjects_tested": "1514", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (2.4%); patient count (36/1514). 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"http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135426", "id": "ENSG00000135426", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135426", "id": "ENSG00000135426", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135426", "id": "ENSG00000135426", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135426", "id": "ENSG00000135426", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2RU30", "name": "TESPA1", "locus": { "end_pos": 54948018, "strand": "-", "start_pos": 54984746, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000135426", "id": "ENSG00000135426", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A2RU30", "type": "recommended", "resource": "UniProtKB", "name": "Protein TESPA1" }, { "url": "https://www.uniprot.org/uniprot/A2RU30", "type": "synonym", "resource": "UniProtKB", "name": "Thymocyte-expressed positive selection-associated protein 1" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RU30", "type": "synonym", "resource": "RefSeq", "name": "protein TESPA1 isoform 1" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RU30", "type": "synonym", "resource": "RefSeq", "name": "thymocyte-expressed positive selection-associated protein 1; protein TESPA1" } ] }