{ "uniprot_canonical_ac": "A2RU30-1", "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": [], "synonyms": { "protein": { "refseq": [ "protein TESPA1 isoform 1", "thymocyte-expressed positive selection-associated protein 1; protein TESPA1" ], "uniprotkb": [ "Protein TESPA1", "Thymocyte-expressed positive selection-associated protein 1" ] }, "gene": { "refseq": [ "TESPA1", "HSPC257", "ITPRID3", "KIAA0748" ], "uniprotkb": [ "TESPA1", "KIAA0748", "HSPC257", "ITPRID3" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU30", "id": "A2RU30", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Protein TESPA1; Thymocyte-expressed positive selection-associated protein 1." }, "publication": [ { "title": "Tespa1 regulates T cell receptor-induced calcium signals by recruiting inositol 1,4,5-trisphosphate receptors.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/28598420", "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", "pmid": "28598420" }, { "title": "Tespa1 is associated with susceptibility but not severity of rheumatoid arthritis in the Zhejiang Han population in China.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/25736038", "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", "pmid": "25736038" }, { "title": "Lack of association between TESPA1 gene polymorphisms (rs1801876, rs2171497, rs4758994, and rs997173) and ankylosing spondylitis in a Chinese population.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/24893580", "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", "pmid": "24893580" }, { "title": "Tespa1 protein is phosphorylated in response to store-operated calcium entry.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/23541577", "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", "pmid": "23541577" }, { "title": "Tespa1 is a novel component of mitochondria-associated endoplasmic reticulum membranes and affects mitochondrial calcium flux.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/23501103", "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", "pmid": "23501103" }, { "title": "Tespa1 is a novel inositol 1,4,5-trisphosphate receptor binding protein in T and B lymphocytes.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/23650607", "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", "pmid": "23650607" }, { "title": "Tespa1 is involved in late thymocyte development through the regulation of TCR-mediated signaling.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/22561606", "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", "pmid": "22561606" }, { "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.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/20628086", "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", "pmid": "20628086" } ], "glycosylation": [], "mutation": [ { "start_pos": 297, "subjects_positive": "36", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU30", "id": "A2RU30", "database": "BioMuta" } ], "frequency": "2.4", "annotation": "Filters passed (2/5): patient freq. (2.4%); patient count (36/1514). In dbSNP: rs764857918.", "sequence_org": "R", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "*", "subjects_tested": "1514", "end_pos": 297, "type": "Point mutation" }, { "start_pos": 282, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU30", "id": "A2RU30", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs183884396.", "sequence_org": "R", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "icd10": "", "name": "Uterine cancer" }, "sequence_mut": "C", "subjects_tested": "558", "end_pos": 282, "type": "Point mutation" }, { "start_pos": 496, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU30", "id": "A2RU30", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "E", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "icd10": "", "name": "Breast cancer" }, "sequence_mut": "K", "subjects_tested": "50", "end_pos": 496, "type": "Point mutation" }, { "start_pos": 282, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU30", "id": "A2RU30", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs183884396.", "sequence_org": "R", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "C", "subjects_tested": "1514", "end_pos": 282, "type": "Point mutation" }, { "start_pos": 474, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU30", "id": "A2RU30", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs533904016.", "sequence_org": "R", "disease": { "doid": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "icd10": "", "name": "Stomach cancer" }, "sequence_mut": "C", "subjects_tested": "1044", "end_pos": 474, "type": "Point mutation" }, { "start_pos": 7, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU30", "id": "A2RU30", "database": "BioMuta" } ], "frequency": "1.1", "annotation": "Filters passed (1/5): patient freq. (1.1%).", "sequence_org": "S", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "N", "subjects_tested": "94", "end_pos": 7, "type": "Point mutation" }, { "start_pos": 219, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU30", "id": "A2RU30", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "S", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "G", "subjects_tested": "50", "end_pos": 219, "type": "Point mutation" }, { "start_pos": 437, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU30", "id": "A2RU30", "database": "BioMuta" } ], "frequency": "1.5", "annotation": "Filters passed (1/5): patient freq. (1.5%).", "sequence_org": "R", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "T", "subjects_tested": "66", "end_pos": 437, "type": "Point mutation" }, { "start_pos": 474, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU30", "id": "A2RU30", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs533904016.", "sequence_org": "R", "disease": { "doid": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "icd10": "", "name": "Brain cancer" }, "sequence_mut": "C", "subjects_tested": "1042", "end_pos": 474, "type": "Point mutation" }, { "start_pos": 184, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU30", "id": "A2RU30", "database": "BioMuta" } ], "frequency": "0.6", "annotation": "Filters passed (1/5): num. of cancers (4). In dbSNP: rs751647202.", "sequence_org": "R", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "Q", "subjects_tested": "162", "end_pos": 184, "type": "Point mutation" }, { "start_pos": 184, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU30", "id": "A2RU30", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (4). In dbSNP: rs751647202.", "sequence_org": "R", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "icd10": "", "name": "Uterine cancer" }, "sequence_mut": "Q", "subjects_tested": "558", "end_pos": 184, "type": "Point mutation" }, { "start_pos": 215, "subjects_positive": "2", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU30", "id": "A2RU30", "database": "BioMuta" } ], "frequency": "1.0", "annotation": "Filters passed (1/5): patient freq. (1.0%).", "sequence_org": "L", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "Esophageal cancer" }, "sequence_mut": "P", "subjects_tested": "191", "end_pos": 215, "type": "Point mutation" }, { "start_pos": 16, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU30", "id": "A2RU30", "database": "BioMuta" } ], "frequency": "1.1", "annotation": "Filters passed (1/5): patient freq. (1.1%).", "sequence_org": "A", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "icd10": "", "name": "Ovarian cancer" }, "sequence_mut": "V", "subjects_tested": "93", "end_pos": 16, "type": "Point mutation" }, { "start_pos": 474, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU30", "id": "A2RU30", "database": "BioMuta" } ], "frequency": "0.9", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs533904016.", "sequence_org": "R", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "icd10": "", "name": "Uterine cancer" }, "sequence_mut": "C", "subjects_tested": "114", "end_pos": 474, "type": "Point mutation" }, { "start_pos": 184, "subjects_positive": "3", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU30", "id": "A2RU30", "database": "BioMuta" } ], "frequency": "0.4", "annotation": "Filters passed (1/5): num. of cancers (4). In dbSNP: rs751647202.", "sequence_org": "R", "disease": { "doid": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "icd10": "", "name": "Skin cancer" }, "sequence_mut": "Q", "subjects_tested": "820", "end_pos": 184, "type": "Point mutation" }, { "start_pos": 184, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU30", "id": "A2RU30", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (4). In dbSNP: rs751647202.", "sequence_org": "R", "disease": { "doid": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "icd10": "", "name": "Brain cancer" }, "sequence_mut": "Q", "subjects_tested": "678", "end_pos": 184, "type": "Point mutation" }, { "start_pos": 282, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU30", "id": "A2RU30", "database": "BioMuta" } ], "frequency": "0.8", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs183884396.", "sequence_org": "R", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "icd10": "", "name": "Ovarian cancer" }, "sequence_mut": "C", "subjects_tested": "118", "end_pos": 282, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2RU30#A2RU30-1", "isoform_ac": "A2RU30-1", "locus": { "end_pos": 54961172, "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#H0YDP3-1", "isoform_ac": "H0YDP3-1", "locus": { "end_pos": 54967976, "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#A2RU30-2", "isoform_ac": "A2RU30-2", "locus": { "end_pos": 54961172, "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#E9PIT9-1", "isoform_ac": "E9PIT9-1", "locus": { "end_pos": 54974422, "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#A2RU30-3", "isoform_ac": "A2RU30-3", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "N/A", "evidence": [] }, "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#E9PM24-1", "isoform_ac": "E9PM24-1", "locus": { "end_pos": 54963743, "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, "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, "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#E9PIN8-1", "isoform_ac": "E9PIN8-1", "locus": { "end_pos": 54963803, "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#H0YEX3-1", "isoform_ac": "H0YEX3-1", "locus": { "end_pos": 54950211, "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" } }, { "url": "https://www.uniprot.org/uniprot/A2RU30#E9PHY9-1", "isoform_ac": "E9PHY9-1", "locus": { "end_pos": 54967853, "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" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:9840", "resource": "KEGG Pathway", "id": "hsa:9840", "name": "" } ], "function": [ { "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": "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": "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": "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": "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" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q3U132-1", "protein_name": "Protein TESPA1; Thymocyte-expressed positive selection-associated protein 1.", "sequence": { "length": 458, "sequence": "MEASVLSPTSWEKRRAWLRQSRNWQTQVLEEEAAAALQDALDPEPSSLDDVFQEGNPINKIEDWLQGCGCRDTEEGLSEESGQSNYSGYSSHGTSFEDDLSLGAEATLLSTNGNLFSRNFLQTPRLCQLLDLGSSLASSSMTGGTNKTSSSISEILDQVQEDAEDILFSLGFGHENHKDTSRIPARFFSNPSQAKGINFQLFLKSQVQRMEMEDPCLMLASRFKQVQTLAVTADAFFCLYSYVSKTPVQKFTPSNMFWNFDPTDVPSIRILAPEPEPYSPRERLRRAISKMCLYTGSRDRLSSSYNNPKKNSLDQIVWEVMDRVKGEKIQQDPEHRQALGEESVPPIQNTNPSTSSLPCVSYPKEETQGDMCHAHALARPGPQYHINSTQVRRQLWVLQDINEKPRSAENESPWERKSKARKNLFQRVPVDKNIKSLNLPTIQQKQNQGQARHELTNL" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/106645", "id": "106645", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285.1", "ac": "NP_001092285.1", "name": "protein TESPA1 isoform 1; thymocyte-expressed positive selection-associated protein 1; protein TESPA1.", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "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", "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", "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", "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:0033089", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU30", "id": "A2RU30", "database": "UniProtKB" } ], "name": "positive regulation of T cell differentiation in thymus", "id": "GO:0033089" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050862", "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", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU30", "id": "A2RU30", "database": "UniProtKB" } ], "name": "COP9 signalosome assembly", "id": "GO:0010387" } ], "total": 3, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 146, "annotation": "n_glycosylation_sequon", "start_pos": 144 } ], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285.1", "id": "NP_001092285.1", "database": "RefSeq" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29109", "id": "29109", "database": "HGNC" }, { "url": "https://pharos.nih.gov/targets/A2RU30", "id": "A2RU30", "database": "PHAROS" }, { "url": "https://www.nextprot.org/entry/NX_A2RU30", "id": "NX_A2RU30", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TESPA1", "id": "TESPA1", "database": "GeneCards" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:9840", "id": "hsa:9840", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135426", "id": "ENSG00000135426", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/EESHWPS/", "id": "EESHWPS", "database": "OMA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR029325", "id": "IPR029325", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR026647", "id": "IPR026647", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF14722", "id": "PF14722", "database": "Pfam" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR17469:SF1", "id": "PTHR17469:SF1", "database": "PANTHER" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2RU30", "id": "PR_A2RU30", "database": "PRO" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2RU30*", "id": "A2RU30", "database": "IntAct" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/9840", "id": "9840", "database": "GeneID" } ], "expression_disease": [], "uniprot_ac": "A2RU30", "disease": [], "mass": { "monoisotopic_mass": 59213.0, "chemical_mass": 59213.0 }, "expression_tissue": [ { "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=hsa:9840", "id": "hsa:9840", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:9840", "id": "hsa:9840", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:9840", "id": "hsa:9840", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:9840", "id": "hsa:9840", "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=hsa:9840", "id": "hsa:9840", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:9840", "id": "hsa:9840", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:9840", "id": "hsa:9840", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:9840", "id": "hsa:9840", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:9840", "id": "hsa:9840", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:9840", "id": "hsa:9840", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:9840", "id": "hsa:9840", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:9840", "id": "hsa:9840", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:9840", "id": "hsa:9840", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:9840", "id": "hsa:9840", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:9840", "id": "hsa:9840", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:9840", "id": "hsa:9840", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:9840", "id": "hsa:9840", "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=hsa:9840", "id": "hsa:9840", "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=hsa:9840", "id": "hsa:9840", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:9840", "id": "hsa:9840", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:9840", "id": "hsa:9840", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2RU30", "name": "TESPA1; KIAA0748; HSPC257; ITPRID3.", "locus": { "end_pos": 54948018, "start_pos": 54984746, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000135426", "id": "ENSG00000135426", "database": "Ensembl Gene" } ] } } ] }