{ "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": "", "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 } ], "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU30", "id": "A2RU30", "database": "UniProtKB" } ], "name": "signaling receptor binding", "id": "GO:0005102" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008180", "pmid": "22561606", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU30", "id": "A2RU30", "database": "UniProtKB" } ], "name": "COP9 signalosome", "id": "GO:0008180" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU30", "id": "A2RU30", "database": "UniProtKB" } ], "name": "cytoplasm", "id": "GO:0005737" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU30", "id": "A2RU30", "database": "UniProtKB" } ], "name": "endoplasmic reticulum membrane", "id": "GO:0005789" } ], "total": 3, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050862", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU30", "id": "A2RU30", "database": "UniProtKB" } ], "name": "positive regulation of T cell receptor signaling pathway", "id": "GO:0050862" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010387", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU30", "id": "A2RU30", "database": "UniProtKB" } ], "name": "COP9 signalosome assembly", "id": "GO:0010387" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033089", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU30", "id": "A2RU30", "database": "UniProtKB" } ], "name": "positive regulation of T cell differentiation in thymus", "id": "GO:0033089" } ], "total": 3, "name": "Biological Process" } ] }, "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" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/31316154", "type": "PubMed", "id": "31316154" } ], "title": "Thymic-specific regulation of TCR signaling by Tespa1.", "journal": "Cellular & molecular immunology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285.1", "id": "NP_001092285.1", "database": "RefSeq" } ], "authors": "Lyu J, Wang P, Xu T, Shen Y, Cui Z, Zheng M, Fu G, Lu L", "date": "2019" } ], "uniprot_ac": "A2RU30", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RU30", "type": "synonym", "resource": "RefSeq", "name": "HSPC257; ITPRID3; KIAA0748" }, { "url": "https://www.uniprot.org/uniprot/A2RU30", "type": "synonym", "resource": "UniProtKB", "name": "HSPC257" }, { "url": "https://www.uniprot.org/uniprot/A2RU30", "type": "synonym", "resource": "UniProtKB", "name": "KIAA0748" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RU30", "type": "synonym", "resource": "RefSeq", "name": "TESPA1" }, { "url": "https://www.uniprot.org/uniprot/A2RU30", "type": "recommended", "resource": "UniProtKB", "name": "TESPA1" } ], "reactions": [], "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/ENST00000449076", "id": "ENST00000449076", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000400892", "id": "ENSP00000400892", "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|E9PIN8_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|E9PM24_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|E9PPW8_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": "" } ], "reaction_participants": [], "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" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285.1", "annotation": "Thymic-specific regulation of TCR signaling by Tespa1.", "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": "https://omabrowser.org/oma/group/A2RU30/", "id": "A2RU30", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/106645", "id": "106645", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Tespa1", "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": [ { "disease_id": "DOID:1324", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1; LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4; LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "adenocarcinoma of lung, susceptibility to", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3; LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5; LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "A malignant neoplasm involving the lung.", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "cancer of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "alveolar cell carcinoma", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung tumor", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "Nonsmall cell lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer, protection against", "id": "MONDO:0008903" }, { "url": "https://www.omim.org/entry/211980", "resource": "MIM", "description": "Lung cancer", "name": "Lung cancer", "id": "MIM:211980" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "description": "A respiratory system cancer that is located_in the lung.", "name": "lung cancer", "id": "DOID:1324" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU30", "id": "A2RU30", "database": "BioMuta" } ], "glycoeffect": [], "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). In dbSNP: rs764857918.", "end_pos": 297, "minor_allelic_frequency": "", "subjects_positive": "36" }, { "sequence_org": "A", "start_pos": 16, "alt_nt": "A", "chr_id": "12", "ref_nt": "G", "chr_pos": "55368300", "disease": [ { "disease_id": "DOID:2394", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "malignant Ovarian tumor", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "ovarian neoplasm", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "ovary neoplasm", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "primary ovarian cancer", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of ovary", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "tumor of the Ovary", "id": "DOID:2394" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "OVCAS1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "ovarian cancer, susceptibility to, 1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "ovarian cancer, susceptibility to, 1; OVCAS1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "OVCAS1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas.", "name": "ovarian cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant tumor of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian cancer, epithelial", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovary cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant ovarian neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant tumor of the ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovary neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian cancer, NOS", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant neoplasm of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant ovary neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "primary ovarian cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian malignant tumor", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "cancer of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "cancer of the ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant tumour of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant ovarian tumor", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "tumor of the ovary", "id": "MONDO:0008170" }, { "url": "https://www.omim.org/entry/167000", "resource": "MIM", "description": "Ovarian cancer", "name": "Ovarian cancer", "id": "MIM:167000" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the ovary.", "name": "ovarian cancer", "id": "DOID:2394" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU30", "id": "A2RU30", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.1", "sequence_mut": "V", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "end_pos": 16, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "R", "start_pos": 184, "alt_nt": "T", "chr_id": "12", "ref_nt": "C", "chr_pos": "55357630", "disease": [ { "disease_id": "DOID:9256", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.", "name": "familial colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "hereditary colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "colorectal cancer, familial", "id": "MONDO:0023113" }, { "url": "https://www.omim.org/entry/114500", "resource": "MIM", "description": "Colorectal cancer", "name": "Colorectal cancer", "id": "MIM:114500" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "name": "colorectal cancer", "id": "DOID:9256" } }, { "disease_id": "DOID:363", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "CA - cancer of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterus neoplasm", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "neoplasm of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "Tumour of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of uterus", "id": "DOID:363" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the uterus.", "name": "uterine cancer", "id": "DOID:363" } }, { "disease_id": "DOID:4159", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "", "name": "CA - 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In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. 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} ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135426", "id": "ENSG00000135426", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135426", "id": "ENSG00000135426", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135426", "id": "ENSG00000135426", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": 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protein TESPA1" } ] }