{ "uniprot_canonical_ac": "A2RU30-1", "uniprot_ac": "A2RU30", "uniprot_id": "TESP1_HUMAN", "mass": { "chemical_mass": 59213.0, "monoisotopic_mass": 59213.0 }, "refseq": { "ac": "NP_001092285", "name": "protein TESPA1 isoform 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285" }, "gene_names": [ { "name": "TESPA1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A2RU30", "id": "A2RU30" }, { "name": "HSPC257; ITPRID3; KIAA0748", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285", "id": "NP_001092285" }, { "name": "HSPC257", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A2RU30", "id": "A2RU30" }, { "name": "KIAA0748", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A2RU30", "id": "A2RU30" }, { "name": "TESPA1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285", "id": "NP_001092285" } ], "protein_names": [ { "name": "Protein TESPA1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A2RU30" }, { "name": "Thymocyte-expressed positive selection-associated protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A2RU30" }, { "name": "protein TESPA1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285", "id": "NP_001092285" }, { "name": "thymocyte-expressed positive selection-associated protein 1; protein TESPA1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285", "id": "NP_001092285" } ], "function": [ { "annotation": "Alcohol use disorder is associated with DNA methylation-based shortening of telomere length and regulated by TESPA1: implications for aging.", "evidence": [ { "database": "RefSeq", "id": "NP_001092285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285" }, { "database": "PubMed", "id": "35705636", "url": "https://glygen.org/publication/PubMed/35705636" } ] }, { "annotation": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001092285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285" }, { "database": "PubMed", "id": "20628086", "url": "https://glygen.org/publication/PubMed/20628086" } ] }, { "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": [ { "database": "UniProtKB", "id": "A2RU30", "url": "https://www.uniprot.org/uniprot/A2RU30#function" }, { "database": "PubMed", "id": "22561606", "url": "https://glygen.org/publication/PubMed/22561606" } ] }, { "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": [ { "database": "RefSeq", "id": "NP_001092285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285" }, { "database": "PubMed", "id": "28598420", "url": "https://glygen.org/publication/PubMed/28598420" } ] }, { "annotation": "Tespa1 hay have a role in susceptibility but not severity of rheumatoid arthritis in the Zhejiang Han population in China", "evidence": [ { "database": "RefSeq", "id": "NP_001092285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285" }, { "database": "PubMed", "id": "25736038", "url": "https://glygen.org/publication/PubMed/25736038" } ] }, { "annotation": "Tespa1 is a novel component of mitochondria-associated endoplasmic reticulum membranes and affects mitochondrial calcium flux.", "evidence": [ { "database": "RefSeq", "id": "NP_001092285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285" }, { "database": "PubMed", "id": "23501103", "url": "https://glygen.org/publication/PubMed/23501103" } ] }, { "annotation": "Tespa1 is post-translationally modified upon intracellular divalent calcium-ion Ca2+ increase in thymocytes.", "evidence": [ { "database": "RefSeq", "id": "NP_001092285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285" }, { "database": "PubMed", "id": "23541577", "url": "https://glygen.org/publication/PubMed/23541577" } ] }, { "annotation": "The TESPA1 gene was found to not be involved in ankylosing spondylitis in a Chinese population.", "evidence": [ { "database": "RefSeq", "id": "NP_001092285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285" }, { "database": "PubMed", "id": "24893580", "url": "https://glygen.org/publication/PubMed/24893580" } ] }, { "annotation": "Thymic-specific regulation of TCR signaling by Tespa1.", "evidence": [ { "database": "RefSeq", "id": "NP_001092285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285" }, { "database": "PubMed", "id": "31316154", "url": "https://glygen.org/publication/PubMed/31316154" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "A2RU30", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU30" } ], "glycoeffect": [], "start_pos": 184, "end_pos": 184, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "54963846", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R184", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of 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"recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "A2RU30", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU30" } ], "glycoeffect": [], "start_pos": 282, "end_pos": 282, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 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"url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung 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"https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "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." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "A2RU30", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU30" } ], "glycoeffect": [], "start_pos": 474, "end_pos": 474, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "54962478", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R474", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": 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"https://www.ensembl.org/id/ENSP00000312679.8" } ] } }, { "isoform_ac": "A2RU30-2", "url": "", "sequence": { "sequence": "MTGGTNKTSSSISEILDKVQEDAEDVLFSLGFGQEDHKDTSRIPARFFTTPSQAKGIDFQLFLKSQVRRIEMEDPCLMLASRFKQVQTLAVTADAFFCLYSYVSKTPVQKFTPSHMFWNCNHPTDVPSIRILSREPEPQSPRDRLRKAISKMCLYTCPRDRPPPPHNTPKRNSLDQVVLEVMDKVKEEKQFLQQDSDLGQFSQEDPVPPAEGKKLPTSPYPCVFCCEEETQQRMSTVLAPSQTLDSNPKVPCCTHSLPIEDPQWSTDPAQIRRELCSLPATNTETHPAKDETFWKRKSRARKSLFQKNLMGRKVKSLDLSITQQKWKQSVDRPELRRSLSQQPQDTFDLEEVQSNSEEEQSQSRWPSRPRHPHHHQTFAGKDS", "length": 383, "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" }, "locus": { "chromosome": "12", "start_pos": 54966084, "end_pos": 54961172, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000524622.5", "url": "https://www.ensembl.org/id/ENST00000524622.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000435622.1", "url": "https://www.ensembl.org/id/ENSP00000435622.1" } ] } }, { "isoform_ac": "A2RU30-3", "url": "", "sequence": { "sequence": "MTGGTNKTSSSISEILDKVQEDAEDVLFSLGFGQEDHKDTSRIPARFFTTPSQAKGIDFQLFLKSQVRRIEMEDPCLMLASRFKQVQTLAVTADAFFCLYSYVSKTPVQKFTPSHMFWNCNHPTDVPSIRILSREPEPQSPRDRLRKAISKMCLYTCPRDRPPPPHNTPKRNSLDQVVLEVMDKVKEEKQFLQQDSDLGQFSQEDPVPPAEGKKLPTSPYPCVFCCEEETQQRMSTVLAPSQTLDSNPKVPCCTHSLPIEDPQWSTDPAQIRRELCSLPATNTETHPAKDETFWKRKSRARKSLFQKNLMGRKVKSLDLSITQQKWKQSVDRPELRRSLSQQPQDTFDLEEVQSNSEEEQSQSRWPSRPRHPHHHQTFAGKFVKLSPPPQQHVV", "length": 394, "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" }, "locus": {} }, { "isoform_ac": "E9PHY9-1", "url": "", "sequence": { "sequence": "MEASVLSPTSWEKRRAWLRQSRNWQTQVLEEEAAAALQDVPDPEPSSLDDVFQEGNPINKIEDWLQDCGYSEEGFSEEAGQF", "length": 82, "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" }, "locus": { "chromosome": "12", "start_pos": 54974562, "end_pos": 54967853, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000524668.5", "url": "https://www.ensembl.org/id/ENST00000524668.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000436635.1", "url": "https://www.ensembl.org/id/ENSP00000436635.1" } ] } }, { "isoform_ac": "E9PIN8-1", "url": "", "sequence": { "sequence": "MTGGTNKTSSSISEILDKVQEDAEDVLFSLGFGQEDHKDTSRIPARFFTTPSQAKGIDFQ", "length": 60, "header": "tr|E9PIN8-1|E9PIN8_HUMAN Computationally mapped isoform of Thymocyte expressed, positive selection associated 1 OS=Homo sapiens OX=9606 GN=TESPA1 PE=1 SV=8 CANONICAL=A2RU30-1" }, "locus": { "chromosome": "12", "start_pos": 54966084, "end_pos": 54963803, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000533446.5", "url": "https://www.ensembl.org/id/ENST00000533446.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000435734.1", "url": "https://www.ensembl.org/id/ENSP00000435734.1" } ] } }, { "isoform_ac": "E9PIT9-1", "url": "", "sequence": { "sequence": "MEASVLSPTSWEKRRAWLRQSRNWQTQVLEEEAAAALQDVPDPEPSS", "length": 47, "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" }, "locus": { "chromosome": "12", "start_pos": 54974562, "end_pos": 54974422, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000533607.1", "url": "https://www.ensembl.org/id/ENST00000533607.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000433895.1", "url": "https://www.ensembl.org/id/ENSP00000433895.1" } ] } }, { "isoform_ac": "E9PM24-1", "url": "", "sequence": { "sequence": "MTGGTNKTSSSISEILDKVQEDAEDVLFSLGFGQEDHKDTSRIPARFFTTPSQAKGIDFQLFLKSQVRRIEMEDPCLMLA", "length": 80, "header": "tr|E9PM24-1|E9PM24_HUMAN Computationally mapped isoform of Thymocyte expressed, positive selection associated 1 OS=Homo sapiens OX=9606 GN=TESPA1 PE=1 SV=1 CANONICAL=A2RU30-1" }, "locus": { "chromosome": "12", "start_pos": 54966084, "end_pos": 54963743, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000526532.5", "url": "https://www.ensembl.org/id/ENST00000526532.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000433187.1", "url": "https://www.ensembl.org/id/ENSP00000433187.1" } ] } }, { "isoform_ac": "E9PN46-1", "url": "", "sequence": { "sequence": "MTGGTNKTSSSISEILDKVQEDAEDVLFSLGFGQEDHKDTSRIPARFFTTPSQAKGIDFQLFLKSQV", "length": 67, "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" }, "locus": { "chromosome": "12", "start_pos": 54966084, "end_pos": 54963236, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000524923.5", "url": "https://www.ensembl.org/id/ENST00000524923.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000434811.1", "url": "https://www.ensembl.org/id/ENSP00000434811.1" } ] } }, { "isoform_ac": "E9PPW8-1", "url": "", "sequence": { "sequence": "MTGGTNKTSSSISEILDKVQEDAEDVLFSLGFGQEDHKDTSRIPARFFTTPSQAKGIDFQLFLKSQVRRIEMEDPCLMLASFLHHHNSMWSDRIGFKEET", "length": 100, "header": "tr|E9PPW8-1|E9PPW8_HUMAN Computationally mapped isoform of Thymocyte expressed, positive selection associated 1 OS=Homo sapiens OX=9606 GN=TESPA1 PE=1 SV=1 CANONICAL=A2RU30-1" }, "locus": { "chromosome": "12", "start_pos": 54966084, "end_pos": 54950332, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000532757.5", "url": "https://www.ensembl.org/id/ENST00000532757.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000436286.1", "url": "https://www.ensembl.org/id/ENSP00000436286.1" } ] } }, { "isoform_ac": "H0YDP3-1", "url": "", "sequence": { "sequence": "XASVLSPTSWEKRRAWLRQSRNWQTQVLEEEAAAALQDVPDPEPSSLDDVFQEGNPINKIEDWLQDCGKLNTTDSHWKRI", "length": 80, "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" }, "locus": { "chromosome": "12", "start_pos": 54974558, "end_pos": 54967976, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000525978.5", "url": "https://www.ensembl.org/id/ENST00000525978.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000434039.1", "url": "https://www.ensembl.org/id/ENSP00000434039.1" } ] } }, { "isoform_ac": "H0YEX3-1", "url": "", "sequence": { "sequence": "QWSTDPAQIRRELCSLPATNTETHPAKDETFWKRKSRARKSLFQKNLMGRKVKSLDLSITQQKWKQSVDRPELRRSLSQQPQDTFDLEEAFSTTTTACGLTELASKKKLKATSCRKLHCPQHPAPTPWSSKPPNSAGERQHGTWGGRPD", "length": 149, "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" }, "locus": { "chromosome": "12", "start_pos": 54962697, "end_pos": 54950211, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000528240.1", "url": "https://www.ensembl.org/id/ENST00000528240.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000436753.1", "url": "https://www.ensembl.org/id/ENSP00000436753.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 311, "end_pos": 311, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A2RU30", "url": "https://www.uniprot.org/uniprot/A2RU30" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "A2RU30", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RU30" } ], "site_lbl": "Ser311" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "A2RU30", "url": "https://www.uniprot.org/uniprot/A2RU30" }, { "database": "iPTMnet", "id": "A2RU30", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RU30" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "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", "date": "2010", "authors": "Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S", "evidence": [ { "database": "RefSeq", "id": "NP_001092285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285" } ], "reference": [ { "type": "PubMed", "id": "20628086", "url": "https://glygen.org/publication/PubMed/20628086" } ] }, { "title": "Tespa1 is involved in late thymocyte development through the regulation of TCR-mediated signaling.", "journal": "Nature immunology", "date": "2012", "authors": "Wang D, Zheng M, Lei L, Ji J, Yao Y, Qiu Y, Ma L, Lou J, Ouyang C, Zhang X, He Y, Chi J, Wang L, Kuang Y, Wang J, Cao X, Lu L", "evidence": [ { "database": "UniProtKB", "id": "A2RU30", "url": "https://www.uniprot.org/uniprot/A2RU30" } ], "reference": [ { "type": "PubMed", "id": "22561606", "url": "https://glygen.org/publication/PubMed/22561606" } ] }, { "title": "Tespa1 is a novel component of mitochondria-associated endoplasmic reticulum membranes and affects mitochondrial calcium flux.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2013", "authors": "Matsuzaki H, Fujimoto T, Tanaka M, Shirasawa S", "evidence": [ { "database": "UniProtKB", "id": "A2RU30", "url": "https://www.uniprot.org/uniprot/A2RU30" }, { "database": "RefSeq", "id": "NP_001092285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285" } ], "reference": [ { "type": "PubMed", "id": "23501103", "url": "https://glygen.org/publication/PubMed/23501103" } ] }, { "title": "Tespa1 protein is phosphorylated in response to store-operated calcium entry.", "journal": "Biochemical and biophysical research communications", "date": "2013", "authors": "Fujimoto T, Matsuzaki H, Tanaka M, Shirasawa S", "evidence": [ { "database": "RefSeq", "id": "NP_001092285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285" } ], "reference": [ { "type": "PubMed", "id": "23541577", "url": "https://glygen.org/publication/PubMed/23541577" } ] }, { "title": "Tespa1 is a novel inositol 1,4,5-trisphosphate receptor binding protein in T and B lymphocytes.", "journal": "FEBS open bio", "date": "2012", "authors": "Matsuzaki H, Fujimoto T, Ota T, Ogawa M, Tsunoda T, Doi K, Hamabashiri M, Tanaka M, Shirasawa S", "evidence": [ { "database": "UniProtKB", "id": "A2RU30", "url": "https://www.uniprot.org/uniprot/A2RU30" } ], "reference": [ { "type": "PubMed", "id": "23650607", "url": "https://glygen.org/publication/PubMed/23650607" } ] }, { "title": "Lack of association between TESPA1 gene polymorphisms (rs1801876, rs2171497, rs4758994, and rs997173) and ankylosing spondylitis in a Chinese population.", "journal": "Inflammation", "date": "2014", "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", "evidence": [ { "database": "RefSeq", "id": "NP_001092285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285" } ], "reference": [ { "type": "PubMed", "id": "24893580", "url": "https://glygen.org/publication/PubMed/24893580" } ] }, { "title": "Tespa1 is associated with susceptibility but not severity of rheumatoid arthritis in the Zhejiang Han population in China.", "journal": "Clinical rheumatology", "date": "2015", "authors": "Yao Y, Zhang H, Shao S, Cui G, Zhang T, Sun H", "evidence": [ { "database": "RefSeq", "id": "NP_001092285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285" } ], "reference": [ { "type": "PubMed", "id": "25736038", "url": "https://glygen.org/publication/PubMed/25736038" } ] }, { "title": "Tespa1 regulates T cell receptor-induced calcium signals by recruiting inositol 1,4,5-trisphosphate receptors.", "journal": "Nature communications", "date": "2017", "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", "evidence": [ { "database": "RefSeq", "id": "NP_001092285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285" } ], "reference": [ { "type": "PubMed", "id": "28598420", "url": "https://glygen.org/publication/PubMed/28598420" } ] }, { "title": "Thymic-specific regulation of TCR signaling by Tespa1.", "journal": "Cellular & molecular immunology", "date": "2019", "authors": "Lyu J, Wang P, Xu T, Shen Y, Cui Z, Zheng M, Fu G, Lu L", "evidence": [ { "database": "RefSeq", "id": "NP_001092285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285" } ], "reference": [ { "type": "PubMed", "id": "31316154", "url": "https://glygen.org/publication/PubMed/31316154" } ] }, { "title": "Alcohol use disorder is associated with DNA methylation-based shortening of telomere length and regulated by TESPA1: implications for aging.", "journal": "Molecular psychiatry", "date": "2022-09", "authors": "Jung Jeesun, McCartney Daniel L, Wagner Josephin, Rosoff Daniel B, Schwandt Melanie, Sun Hui, Wiers Corinde E, de Carvalho Luana Martins, Volkow Nora D, Walker Rosie M, Campbell Archie, Porteous David J, McIntosh Andrew M, Marioni Riccardo E, Horvath Steve, Evans Kathryn L, Lohoff Falk W", "evidence": [ { "database": "RefSeq", "id": "NP_001092285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092285" } ], "reference": [ { "type": "PubMed", "id": "35705636", "url": "https://glygen.org/publication/PubMed/35705636" } ] } ], "pathway": [ { "id": "hsa:9840", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9840", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q3U132-1", "protein_name": "Protein TESPA1", "gene_name": "Tespa1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEASVLSPTSWEKRRAWLRQSRNWQTQVLEEEAAAALQDALDPEPSSLDDVFQEGNPINKIEDWLQGCGCRDTEEGLSEESGQSNYSGYSSHGTSFEDDLSLGAEATLLSTNGNLFSRNFLQTPRLCQLLDLGSSLASSSMTGGTNKTSSSISEILDQVQEDAEDILFSLGFGHENHKDTSRIPARFFSNPSQAKGINFQLFLKSQVQRMEMEDPCLMLASRFKQVQTLAVTADAFFCLYSYVSKTPVQKFTPSNMFWNFDPTDVPSIRILAPEPEPYSPRERLRRAISKMCLYTGSRDRLSSSYNNPKKNSLDQIVWEVMDRVKGEKIQQDPEHRQALGEESVPPIQNTNPSTSSLPCVSYPKEETQGDMCHAHALARPGPQYHINSTQVRRQLWVLQDINEKPRSAENESPWERKSKARKNLFQRVPVDKNIKSLNLPTIQQKQNQGQARHELTNL", "length": 458 }, "evidence": [ { "id": "45928437", "url": "http://www.informatics.jax.org/homology/45928437", "database": "MGI" }, { "id": "A2RU30", "url": "https://omabrowser.org/oma/group/A2RU30/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "A2RU30", "url": "https://www.uniprot.org/uniprot/A2RU30" } ], "pmid": "" }, { "name": "phospholipase binding", "id": "GO:0043274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043274", "evidence": [ { "database": "UniProtKB", "id": "A2RU30", "url": "https://www.uniprot.org/uniprot/A2RU30" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A2RU30", "url": "https://www.uniprot.org/uniprot/A2RU30" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A2RU30", "url": "https://www.uniprot.org/uniprot/A2RU30" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "A2RU30", "url": "https://www.uniprot.org/uniprot/A2RU30" } ], "pmid": "" }, { "name": "COP9 signalosome", "id": "GO:0008180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008180", "evidence": [ { "database": "UniProtKB", "id": "A2RU30", "url": "https://www.uniprot.org/uniprot/A2RU30" } ], "pmid": "" }, { "name": "TCR signalosome", "id": "GO:0036398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036398", "evidence": [ { "database": "UniProtKB", "id": "A2RU30", "url": "https://www.uniprot.org/uniprot/A2RU30" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "positive regulation of T cell differentiation in thymus", "id": "GO:0033089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033089", "evidence": [ { "database": "UniProtKB", "id": "A2RU30", "url": "https://www.uniprot.org/uniprot/A2RU30" } ], "pmid": "" }, { "name": "positive regulation of T cell receptor signaling pathway", "id": "GO:0050862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050862", "evidence": [ { "database": "UniProtKB", "id": "A2RU30", "url": "https://www.uniprot.org/uniprot/A2RU30" } ], "pmid": "" }, { "name": "protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "A2RU30", "url": "https://www.uniprot.org/uniprot/A2RU30" } ], "pmid": "" }, { "name": "T cell differentiation in thymus", "id": "GO:0033077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033077", "evidence": [ { 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