{ "uniprot_canonical_ac": "O43156-1", "uniprot_ac": "O43156", "uniprot_id": "TTI1_HUMAN", "mass": { "chemical_mass": 122069.0, "monoisotopic_mass": 122069.0 }, "refseq": { "ac": "NP_001290386", "name": "TELO2-interacting protein 1 homolog", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290386" }, "gene_names": [ { "name": "TTI1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43156", "id": "O43156" }, { "name": "KIAA0406; NEDMIM; smg-10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290386", "id": "NP_001290386" }, { "name": "KIAA0406", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43156", "id": "O43156" }, { "name": "SMG10", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43156", "id": "O43156" }, { "name": "TTI1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290386", "id": "NP_001290386" } ], "protein_names": [ { "name": "TELO2-interacting protein 1 homolog", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43156" }, { "name": "Protein SMG10", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43156" }, { "name": "TELO2-interacting protein 1 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290386", "id": "NP_001290386" }, { "name": "smg-10 homolog, nonsense mediated mRNA decay factor; TEL2-interacting protein 1 homolog; Tel two interacting protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290386", "id": "NP_001290386" } ], "function": [ { "annotation": "Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.", "evidence": [ { "database": "RefSeq", "id": "NP_001290386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290386" }, { "database": "PubMed", "id": "36724785", "url": "https://glygen.org/publication/PubMed/36724785" } ] }, { "annotation": "Data show that that knockdown of either Tti1 or Tel2 causes disassembly of mTORC1 and mTORC2.", "evidence": [ { "database": "RefSeq", "id": "NP_001290386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290386" }, { "database": "PubMed", "id": "20427287", "url": "https://glygen.org/publication/PubMed/20427287" } ] }, { "annotation": "IP7, formed by IP6K2, binds CK2 to enhance its phosphorylation of the Tti1/Tel2 complex, thereby stabilizing DNA-PKcs and ATM. This process stimulates p53 phosphorylation at serine 15 to activate the cell death program. Erratum:[Mol Cell. 2020 Aug 20;79(4):702. PMID: 32822581]", "evidence": [ { "database": "RefSeq", "id": "NP_001290386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290386" }, { "database": "PubMed", "id": "24657168", "url": "https://glygen.org/publication/PubMed/24657168" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001290386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290386" }, { "database": "PubMed", "id": "20800603", "url": "https://glygen.org/publication/PubMed/20800603" } ] }, { "annotation": "Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs. Promotes assembly, stabilizes and maintains the activity of mTORC1 and mTORC2 complexes, which regulate cell growth and survival in response to nutrient and hormonal signals.", "evidence": [ { "database": "UniProtKB", "id": "O43156", "url": "https://www.uniprot.org/uniprot/O43156#function" }, { "database": "PubMed", "id": "20810650", "url": "https://glygen.org/publication/PubMed/20810650" }, { "database": "PubMed", "id": "20801936", "url": "https://glygen.org/publication/PubMed/20801936" }, { "database": "PubMed", "id": "20427287", "url": "https://glygen.org/publication/PubMed/20427287" } ] }, { "annotation": "Structure of the Human TELO2-TTI1-TTI2 Complex.", "evidence": [ { "database": "RefSeq", "id": "NP_001290386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290386" }, { "database": "PubMed", "id": "34838521", "url": "https://glygen.org/publication/PubMed/34838521" } ] }, { "annotation": "TTI1 and TTI2 protect cells from spontaneous DNA damage, and are required for the establishment of the intra-S and G2/M checkpoin", "evidence": [ { "database": "RefSeq", "id": "NP_001290386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290386" }, { "database": "PubMed", "id": "20810650", "url": "https://glygen.org/publication/PubMed/20810650" } ] }, { "annotation": "TTI1 promotes non-small-cell lung cancer progression by regulating the mTOR signaling pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001290386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290386" }, { "database": "PubMed", "id": "36403197", "url": "https://glygen.org/publication/PubMed/36403197" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O43156", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43156" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 244, "end_pos": 244, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "G", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->G).", "chr_id": "20", "chr_pos": "38013087", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S244", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any 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"MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43156", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43156" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43156", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43156" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43156" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O43156", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43156" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43156", "url": "https://www.uniprot.org/uniprot/O43156" } ], "common_name": "Human" } ], "gene": [ { "name": "TTI1", "url": "https://www.uniprot.org/uniprot/O43156", "locus": { "chromosome": "20", "start_pos": 37983007, "end_pos": 38033461, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000101407", "url": "https://www.ensembl.org/id/ENSG00000101407" } ] } } ], "crossref": [ { "id": "ENSG00000101407", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101407", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O43156", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43156", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "TTI1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTI1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9675", "url": "https://www.ncbi.nlm.nih.gov/gene/9675", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "29029", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29029", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O43156", "url": "https://www.ebi.ac.uk/intact/interactors/id:O43156*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR011989", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011989", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016024", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016024", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016441", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016441", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR049362", "url": "https://www.ebi.ac.uk/interpro/entry/IPR049362", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9675", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9675", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "614425", "url": "http://www.omim.org/entry/614425", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43156", "url": "https://www.nextprot.org/entry/NX_O43156", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O43156", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43156", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "MQGNDET", "url": "https://omabrowser.org/oma/group/MQGNDET/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3670937at2759", "url": "http://www.orthodb.org/?query=3670937at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR18460", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18460", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR18460:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18460:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "7F4U", "url": "https://www.rcsb.org/structure/7F4U", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7OLE", "url": "https://www.rcsb.org/structure/7OLE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF21547", "url": "http://pfam.xfam.org/family/PF21547", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43156", "url": "https://pharos.nih.gov/targets/O43156", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43156", "url": "http://purl.obolibrary.org/obo/PR_O43156", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001290386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290386", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WT32", "url": "https://www.uniprot.org/uniprot/A0A087WT32", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WT32-1", "url": "https://www.uniprot.org/uniprot/A0A087WT32-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43156", "url": "https://www.uniprot.org/uniprot/O43156", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43156-1", "url": "https://www.uniprot.org/uniprot/O43156-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAVFDTPEEAFGVLRPVCVQLTKTQTVENVEHLQTRLQAVSDSALQELQQYILFPLRFTLKTPGPKRERLIQSVVECLTFVLSSTCVKEQELLQELFSELSACLYSPSSQKPAAVSEELKLAVIQGLSTLMHSAYGDIILTFYEPSILPRLGFAVSLLLGLAEQEKSKQIKIAALKCLQVLLLQCDCQDHPRSLDELEQKQLGDLFASFLPGISTALTRLITGDFKQGHSIVVSSLKIFYKTVSFIMADEQLKRISKVQAKPAVEHRVAELMVYREADWVKKTGDKLTILIKKIIECVSVHPHWKVRLELVELVEDLLLKCSQSLVECAGPLLKALVGLVNDESPEIQAQCNKVLRHFADQKVVVGNKALADILSESLHSLATSLPRLMNSQDDQGKFSTLSLLLGYLKLLGPKINFVLNSVAHLQRLSKALIQVLELDVADIKIVEERRWNSDDLNASPKTSATQPWNRIQRRYFRFFTDERIFMLLRQVCQLLGYYGNLYLLVDHFMELYHQSVVYRKQAAMILNELVTGAAGLEVEDLHEKHIKTNPEELREIVTSILEEYTSQENWYLVTCLETEEMGEELMMEHPGLQAITSGEHTCQVTSFLAFSKPSPTICSMNSNIWQICIQLEGIGQFAYALGKDFCLLLMSALYPVLEKAGDQTLLISQVATSTMMDVCRACGYDSLQHLINQNSDYLVNGISLNLRHLALHPHTPKVLEVMLRNSDANLLPLVADVVQDVLATLDQFYDKRAASFVSVLHALMAALAQWFPDTGNLGHLQEQSLGEEGSHLNQRPAALEKSTTTAEDIEQFLLNYLKEKDVADGNVSDFDNEEEEQSVPPKVDENDTRPDVEPPLPLQIQIAMDVMERCIHLLSDKNLQIRLKVLDVLDLCVVVLQSHKNQLLPLAHQAWPSLVHRLTRDAPLAVLRAFKVLRTLGSKCGDFLRSRFCKDVLPKLAGSLVTQAPISARAGPVYSHTLAFKLQLAVLQGLGPLCERLDLGEGDLNKVADACLIYLSVKQPVKLQEAARSVFLHLMKVDPDSTWFLLNELYCPVQFTPPHPSLHPVQLHGASGQQNPYTTNVLQLLKELQ", "length": 1089, "header": "sp|O43156-1|TTI1_HUMAN Isoform 1 of TELO2-interacting protein 1 homolog OS=Homo sapiens OX=9606 GN=TTI1 PE=1 SV=3 CANONICAL=O43156-1" }, "isoforms": [ { "isoform_ac": "A0A087WT32-1", "url": "", "sequence": { "sequence": "XQFLLNYLKEKDVADGNVSDFDNEEGNLFILA", "length": 32, "header": "tr|A0A087WT32-1|A0A087WT32_HUMAN Computationally mapped isoform of TELO2 interacting protein 1 OS=Homo sapiens OX=9606 GN=TTI1 PE=4 SV=1 CANONICAL=O43156-1" }, "locus": { "chromosome": "20", "start_pos": 38006271, "end_pos": 38006176, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000620381.1", "url": "https://www.ensembl.org/id/ENST00000620381.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000477545.1", "url": "https://www.ensembl.org/id/ENSP00000477545.1" } ] } }, { "isoform_ac": "O43156-1", "url": "", "sequence": { "sequence": "MAVFDTPEEAFGVLRPVCVQLTKTQTVENVEHLQTRLQAVSDSALQELQQYILFPLRFTLKTPGPKRERLIQSVVECLTFVLSSTCVKEQELLQELFSELSACLYSPSSQKPAAVSEELKLAVIQGLSTLMHSAYGDIILTFYEPSILPRLGFAVSLLLGLAEQEKSKQIKIAALKCLQVLLLQCDCQDHPRSLDELEQKQLGDLFASFLPGISTALTRLITGDFKQGHSIVVSSLKIFYKTVSFIMADEQLKRISKVQAKPAVEHRVAELMVYREADWVKKTGDKLTILIKKIIECVSVHPHWKVRLELVELVEDLLLKCSQSLVECAGPLLKALVGLVNDESPEIQAQCNKVLRHFADQKVVVGNKALADILSESLHSLATSLPRLMNSQDDQGKFSTLSLLLGYLKLLGPKINFVLNSVAHLQRLSKALIQVLELDVADIKIVEERRWNSDDLNASPKTSATQPWNRIQRRYFRFFTDERIFMLLRQVCQLLGYYGNLYLLVDHFMELYHQSVVYRKQAAMILNELVTGAAGLEVEDLHEKHIKTNPEELREIVTSILEEYTSQENWYLVTCLETEEMGEELMMEHPGLQAITSGEHTCQVTSFLAFSKPSPTICSMNSNIWQICIQLEGIGQFAYALGKDFCLLLMSALYPVLEKAGDQTLLISQVATSTMMDVCRACGYDSLQHLINQNSDYLVNGISLNLRHLALHPHTPKVLEVMLRNSDANLLPLVADVVQDVLATLDQFYDKRAASFVSVLHALMAALAQWFPDTGNLGHLQEQSLGEEGSHLNQRPAALEKSTTTAEDIEQFLLNYLKEKDVADGNVSDFDNEEEEQSVPPKVDENDTRPDVEPPLPLQIQIAMDVMERCIHLLSDKNLQIRLKVLDVLDLCVVVLQSHKNQLLPLAHQAWPSLVHRLTRDAPLAVLRAFKVLRTLGSKCGDFLRSRFCKDVLPKLAGSLVTQAPISARAGPVYSHTLAFKLQLAVLQGLGPLCERLDLGEGDLNKVADACLIYLSVKQPVKLQEAARSVFLHLMKVDPDSTWFLLNELYCPVQFTPPHPSLHPVQLHGASGQQNPYTTNVLQLLKELQ", "length": 1089, "header": "sp|O43156-1|TTI1_HUMAN Isoform 1 of TELO2-interacting protein 1 homolog OS=Homo sapiens OX=9606 GN=TTI1 PE=1 SV=3 CANONICAL=O43156-1" }, "locus": { "chromosome": "20", "start_pos": 38013816, "end_pos": 37983459, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000373447.8", "url": "https://www.ensembl.org/id/ENST00000373447.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000362546.3", "url": "https://www.ensembl.org/id/ENSP00000362546.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 244, "start_aa": "Ser", "end_pos": 244, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser244", "evidence": [ { "id": "O43156", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43156" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "phosphorylation": [ { "start_pos": 459, "end_pos": 459, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43156", "url": "https://www.uniprot.org/uniprot/O43156" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O43156", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43156" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "phospho.ELM", "id": "O43156", "url": "http://phospho.elm.eu.org/byAccession/O43156.html" } ], "site_lbl": "Ser459" }, { "start_pos": 816, "end_pos": 816, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43156", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43156" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Tyr816" }, { "start_pos": 828, "end_pos": 828, "kinase_uniprot_canonical_ac": "P68400-1", "kinase_gene_name": "CSNK2A1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43156", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43156" }, { "database": "PubMed", "id": "23263282", "url": "https://glygen.org/publication/PubMed/23263282" } ], "site_lbl": "Ser828" }, { "start_pos": 828, "end_pos": 828, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by CK2", "evidence": [ { "database": "UniProtKB", "id": "O43156", "url": "https://www.uniprot.org/uniprot/O43156" }, { "database": "iPTMnet", "id": "O43156", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43156" }, { "database": "PubMed", "id": "23263282", "url": "https://glygen.org/publication/PubMed/23263282" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ], "site_lbl": "Ser828" }, { "start_pos": 959, "end_pos": 959, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43156", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43156" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser959" }, { "start_pos": 962, "end_pos": 962, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43156", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43156" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr962" }, { "start_pos": 967, "end_pos": 967, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43156", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43156" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser967" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O43156", "url": "https://www.uniprot.org/uniprot/O43156" }, { "database": "iPTMnet", "id": "O43156", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43156" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O43156", "url": "https://www.uniprot.org/uniprot/O43156" }, { "database": "iPTMnet", "id": "O43156", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43156" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "O43156", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43156" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "O43156", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43156" } ], "reference": [ { "type": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O43156", "url": "https://www.uniprot.org/uniprot/O43156" }, { "database": "iPTMnet", "id": "O43156", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43156" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "AAA+ proteins RUVBL1 and RUVBL2 coordinate PIKK activity and function in nonsense-mediated mRNA decay.", "journal": "Sci. Signal.", "date": "2010", "authors": "Izumi N, Yamashita A, Iwamatsu A, Kurata R, Nakamura H, Saari B, Hirano H, Anderson P, Ohno S", "evidence": [ { "database": "UniProtKB", "id": "O43156", "url": "https://www.uniprot.org/uniprot/O43156" } ], "reference": [ { "type": "PubMed", "id": "20371770", "url": "https://glygen.org/publication/PubMed/20371770" } ] }, { "title": "Tti1 and Tel2 are critical factors in mammalian target of rapamycin complex assembly.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Kaizuka T, Hara T, Oshiro N, Kikkawa U, Yonezawa K, Takehana K, Iemura S, Natsume T, Mizushima N", "evidence": [ { "database": "UniProtKB", "id": "O43156", "url": "https://www.uniprot.org/uniprot/O43156" }, { "database": "RefSeq", "id": "NP_001290386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290386" } ], "reference": [ { "type": "PubMed", "id": "20427287", "url": "https://glygen.org/publication/PubMed/20427287" } ] }, { "title": "Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.", "journal": "Mutation research", "date": "2010", "authors": "Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanche H, Schreiber S, Nebel A", "evidence": [ { "database": "RefSeq", "id": "NP_001290386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290386" } ], "reference": [ { "type": "PubMed", "id": "20800603", "url": "https://glygen.org/publication/PubMed/20800603" } ] }, { "title": "Tel2 structure and function in the Hsp90-dependent maturation of mTOR and ATR complexes.", "journal": "Genes & development", "date": "2010", "authors": "Takai H, Xie Y, de Lange T, Pavletich NP", "evidence": [ { "database": "UniProtKB", "id": "O43156", "url": "https://www.uniprot.org/uniprot/O43156" } ], "reference": [ { "type": "PubMed", "id": "20801936", "url": "https://glygen.org/publication/PubMed/20801936" } ] }, { "title": "A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability.", "journal": "Genes & development", "date": "2010", "authors": "Hurov KE, Cotta-Ramusino C, Elledge SJ", "evidence": [ { "database": "UniProtKB", "id": "O43156", "url": "https://www.uniprot.org/uniprot/O43156" }, { "database": "RefSeq", "id": "NP_001290386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290386" } ], "reference": [ { "type": "PubMed", "id": "20810650", "url": "https://glygen.org/publication/PubMed/20810650" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O43156", "url": "https://www.uniprot.org/uniprot/O43156" }, { "database": "iPTMnet", "id": "O43156", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43156" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "SCFFbxo9 and CK2 direct the cellular response to growth factor withdrawal via Tel2/Tti1 degradation and promote survival in multiple myeloma.", "journal": "Nature cell biology", "date": "2013", "authors": "Fernandez-Saiz V, Targosz BS, Lemeer S, Eichner R, Langer C, Bullinger L, Reiter C, Slotta-Huspenina J, Schroeder S, Knorn AM, Kurutz J, Peschel C, Pagano M, Kuster B, Bassermann F", "evidence": [ { "database": "UniProtKB", "id": "O43156", "url": "https://www.uniprot.org/uniprot/O43156" }, { "database": "iPTMnet", "id": "O43156", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43156" } ], "reference": [ { "type": "PubMed", "id": "23263282", "url": "https://glygen.org/publication/PubMed/23263282" } ] }, { "title": "Inositol pyrophosphates mediate the DNA-PK/ATM-p53 cell death pathway by regulating CK2 phosphorylation of Tti1/Tel2.", "journal": "Molecular cell", "date": "2014", "authors": "Rao F, Cha J, Xu J, Xu R, Vandiver MS, Tyagi R, Tokhunts R, Koldobskiy MA, Fu C, Barrow R, Wu M, Fiedler D, Barrow JC, Snyder SH", "evidence": [ { "database": "RefSeq", "id": "NP_001290386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290386" } ], "reference": [ { "type": "PubMed", "id": "24657168", "url": "https://glygen.org/publication/PubMed/24657168" } ] }, { "title": "WAC regulates mTOR activity by acting as an adaptor for the TTT and Pontin/Reptin complexes.", "journal": "Dev. Cell", "date": "2016", "authors": "David-Morrison Gabriela, Xu Zhen, Rui Yan-Ning, Charng Wu-Lin, Jaiswal Manish, Yamamoto Shinya, Xiong Bo, Zhang Ke, Sandoval Hector, Duraine Lita, Zuo Zhongyuan, Zhang Sheng, Bellen Hugo J", "evidence": [ { "database": "UniProtKB", "id": "O43156", "url": "https://www.uniprot.org/uniprot/O43156" } ], "reference": [ { "type": "PubMed", "id": "26812014", "url": "https://glygen.org/publication/PubMed/26812014" } ] }, { "title": "Structure of the Human TELO2-TTI1-TTI2 Complex.", "journal": "Journal of molecular biology", "date": "2022", "authors": "Kim Y, Park J, Joo SY, Kim BG, Jo A, Lee H, Cho Y", "evidence": [ { "database": "RefSeq", "id": "NP_001290386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290386" } ], "reference": [ { "type": "PubMed", "id": "34838521", "url": "https://glygen.org/publication/PubMed/34838521" } ] }, { "title": "TTI1 promotes non-small-cell lung cancer progression by regulating the mTOR signaling pathway.", "journal": "Cancer science", "date": "2022-11-20", "authors": "Zhang Ling-Xian, Yang Xin, Wu Zhi-Bo, Liao Zhong-Min, Wang Ding-Guo, Chen Shi-Wei, Lu Feng, Wu Yong-Bing, Zhu Shu-Qiang", "evidence": [ { "database": "RefSeq", "id": "NP_001290386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290386" } ], "reference": [ { "type": "PubMed", "id": "36403197", "url": "https://glygen.org/publication/PubMed/36403197" } ] }, { "title": "Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.", "journal": "American journal of human genetics", "date": "2023", "authors": "Serey-Gaut M, Cortes M, Makrythanasis P, Suri M, Taylor AMR, Sullivan JA, Asleh AN, Mitra J, Dar MA, McNamara A, Shashi V, Dugan S, Song X, Rosenfeld JA, Cabrol C, Iwaszkiewicz J, Zoete V, Pehlivan D, Akdemir ZC, Roeder ER, Littlejohn RO, Dibra HK, Byrd PJ, Stewart GS, Geckinli BB, Posey J, Westman R, Jungbluth C, Eason J, Sachdev R, Evans CA, Lemire G, VanNoy GE, O'Donnell-Luria A, Mau-Them FT, Juven A, Piard J, Nixon CY, Zhu Y, Ha T, Buckley MF, Thauvin C, Essien Umanah GK, Van Maldergem L, Lupski JR, Roscioli T, Dawson VL, Dawson TM, Antonarakis SE", "evidence": [ { "database": "RefSeq", "id": "NP_001290386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290386" } ], "reference": [ { "type": "PubMed", "id": "36724785", "url": "https://glygen.org/publication/PubMed/36724785" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43156", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43156" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43156", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43156" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "pathway": [ { "id": "hsa:9675", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9675", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3Z854-1", "protein_name": "TELO2 interacting protein 1", "gene_name": "Tti1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAVFDTPEEAFGVLRPVCVQLTKTQTVENVEHLQTQLQAISDTALQELQQYILFPLRFALKTPGPKRERLVQSVVECLTFVLSSTCVREQELLQELFSELSACLYSPNSQKPAALSEELKLAVIQGLSTLMHSAYRDIILTFYEPSILPRLGFAVSLLLGLAEQEKSKQIKIAALQCLQVLLLQCDCQDHPRPLDELEQQQLGDLLASFLPGISTALTRVITGDFKQGHSIVVSSLKVFYKTVGFIMADEQLTRIPKVRAKPAVEHKVAALMIHREADWVKSTGGKLAILIKKIIDCVSVHPHWKVRLELVEFVEVLLFKCSQSLVESTGPLLKVLVGLVNDESSEVQAQCNTVLRRLADQKVVVGSRALADILSESLHSLATSLPRLMNTQDDQGKFSTLSLLLGYLKLLGPKVHVILNSVAHVQRLSRALIQVLELEVADVKMVEERRWNSDNLSASAEASAARPWSRVQRRYFRCFTDERVFLLLRKICQLLGYYGDLYLLVDHFMELYHTSIVYRKQAAMILNELVVGAAGLDVEDIHYECASTSPEELREIVKSILEEYTSQENWYLITCIEAEEEEEVMMKQQGLQAVTSGVHTCQVVSFPALSKPSPTICSMNSNIWQICIQLEGIGQFAYALGKDFRLLLMSALYPVLEKAGDQTLLISQVAASTMVDICHACGYNSVQHLINQNSDYLVNGISLNLRHLALHPHTPKVLEVMLRNSDASLLPLVADVVQDVLATLDQFYDKRAASFVSVLHALLAALAHWFPDSGSTGQLQQHSLEEVARQTPAASKASPTAEDIERFVLSYLQEKDMAEGNVSDLEAEEVLSEEQSVPPRVDESDALPDVEPPLPVHIQIAKDVMERCIHLLSDKNLKVRLKVLDVLGLCVEVLQTHKNQLLPLAHRAWPSLVHRLTSDDPLAVLRAFKVLQTLGSRCGDFLRSRFCKDVLPKLASSLVTQAPISARAGPVYSHTLAFKLQLAVLQGLGPLCESLDLGEGDLNKVADACLIYLSTKQPVKLQEAARSVFLHLIKVDPDSTWLLLHQLHCPVQQFTAPHPSLHPVQWQGATKPQNPYATNVCHLLLQLQ", "length": 1088 }, "evidence": [ { "id": "45922218", "url": "http://www.informatics.jax.org/homology/45922218", "database": "MGI" }, { "id": "O43156", "url": "https://omabrowser.org/oma/group/O43156/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P36097-1", "protein_name": "TEL2-interacting protein 1", "gene_name": "TTI1", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MNSDTNAFKDIRISCVELSRIAFLPTESFDPNSLTLLACLKKVEEKLSAYEDDSLSPKFADYVFVPIASLLKQPALGESQTEYVLLIIFHLLRTCWSSNGKFSEQLGQQLFPLITFLVSSDKDNQKLITRSDEFKYAGCLVLHQFFKSVRSQRYHKEFFSNSKPNLLPALGHSVTILLKILEQSPQNNELQFKALASLEVLFQDIISDGEMLSFILPGNVSVFAKILTKPGRQIHYKVCVRTLEVLAKLLVLVYDDFSLDIKVNKLTDIRELSDTKLKHEINQSFMFNGPIVLLRTDGKTHRDTSWLTATSGQINIALEAFIPKLLKRNNESIDEALATFVSILLTRCENSLNNCEKVLVSTLVHLERDPMSKLPSHLVKLKEVVNEDLHKLSDIIRFENADRLSSLSFAITILEKNNERDTMINEVVRCLFESLNESIEPPSLINHKERIIEQSSQLTTTVNFENLESTNALIALPRLSEDMSLKLKKFTYHMGSLLLERHILNDVVTELISEQVDSPRTQKIVALWLSTNFIKAMEKQPKEEEVYLQFESDANYSSSMVEEVCLIVLEFCNELSQDISMEIEGKGIKKSDEFAVCTVLFSIETICAVMREEFQPELIDYIYTVVDALASPSEAIRYVSQSCALRIADTLYHGSIPNMILSNVDYLVESISSRLNSGMTERVSQILMVICQLAGYETIENFKDVIETIFKLLDYYHGYSDLCLQFFQLFKIIILEMKKKYINDDEMILKIANQHISQSTFSPWGMTDFQQVLNILDKETQVKDDITDENDVDFLKDDNEPSNFQEYFDSKLREPDSDDDEEEREEEVEGSSKEYTDQWTSPIPSDSYKILLQILGYGERLLTHPSKRLRVQILIVMRLIFPLLSTQHNLLIREVASTWDSIIQCVLCSDYSIVQPACSCVEQMIKYSGDFVAKRFIELWQKLCQDSFILKELRIDPTVHNHEKKSISKHVKFPPVTENALVSMVHMVLEGVKITEYLISEAVLEQIIYCCIQVVPVEKISSMSLIVGDIVWKIRNIN", "length": 1038 }, "evidence": [ { "id": "O43156", "url": "https://omabrowser.org/oma/group/O43156/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q91V83-1", "protein_name": "TELO2-interacting protein 1 homolog", "gene_name": "Tti1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAVFDTPEEAFGVLRPVCVQLTKTQTVENVEHLQTQLQAISDTALQELQQYILFPLRFALKTPGPKRERLVQSVVECLTFVLSSTCVREQELLQELFSELSACLYSPSSQKPAALSEELKLAVIQGLSTLMHSAYRDIILTFYEPSILPRLGFAVSLLLGLAEQEKSKQIKIAALQCLQVLLLQCDCQDHPRPLDELEQQQLGDLLASFLPGISTALTRIITGDFKQGHSIVVSSLKVFYKTVGFIMADEQLTRIPKAQAKPVVEHRVAALMIHREADWVKSTGDKLAIFIKKIIDCVSVHPHWKVRLELVEFVEILLLKCTQSLVESTGPLLKVLVGLVNDESPEVQARCSTVLRRLADQKVVVGSRALADILSESLHSLATSLPRLMNTQDDQGKFSTLSLLLGYLKLLGPKVHVILNSVAHVQRLSRALIQVLELEVTDVKMVEERRWNSDNLSASAEVSAARPWSRVQRRYFRCFTDERVFLLLRKICQLLGYYGDLYLLVDHFMELYHTSVVYRKQAAMILNELVVGAAGLDVEDIHNKCPSMGPEELREIVKSILEEYTSQENWYLITCFEAEEGEEVMMKQQGFQAVTSGVHTCQVVSFPALSKPSPTICSMNSNIWQICIQLEGIGQFAYALGKDFRLLLMSALYPILEKAGDPTLLISQVATSTMVDICHACGYNSVQHLINQNSDYLVNGISLNLRHLALHPHAPKVLEAMLRNADASLLPLVADVVQDVLATLDQFYDKRAASFVSVLHALLAALAHWFPDSGSTGQLQQRSLEEEGRQLPAAGEASTTAEDIEQFVLSYLQEKDVAEGNVSDLEAEEEVQSAPPKVDENDTLPDVEPPLPTHIQIAKDVMERCIHLSADKNLKIRLKVLDVLGLCVEVLQTHKNQLLPLAHRAWPSLVHRLTSDDPLAVLRAFKVLQTLGSRCGDFLRSRFCKDVLPKLTSSLITQAPISARAGPVYSHTLAFKLQLAVLQGLGPLCENLDLGEGDLNKVADACVIYLSTKQPVKLQEAARSVFLHLMRVDPDSTWLLLHELYCPVQQFTAPHPSLHPVQLQGATQPQNPYATNVCHLLLQLQ", "length": 1085 }, "evidence": [ { "id": "45922218", "url": "http://www.informatics.jax.org/homology/45922218", "database": "MGI" }, { "id": "O43156", "url": "https://omabrowser.org/oma/group/O43156/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VH80-1", "protein_name": "TELO2-interacting protein 1 homolog", "gene_name": "Tti1", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": 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"length": 1080 }, "evidence": [ { "id": "O43156", "url": "https://omabrowser.org/oma/group/O43156/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O43156", "url": "https://www.uniprot.org/uniprot/O43156" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O43156", "url": "https://www.uniprot.org/uniprot/O43156" } ], "pmid": "" }, { "name": "TORC1 complex", "id": "GO:0031931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031931", "evidence": [ { "database": "UniProtKB", "id": "O43156", "url": "https://www.uniprot.org/uniprot/O43156" } ], "pmid": "" }, { "name": "TORC2 complex", "id": "GO:0031932", "url": 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Only mTORC1-associated protein is ubiquitinated and degraded, leading to selective inactivation of mTORC1 to restrain cell growth and protein translation, while mTORC2 is activated due to the relief of feedback inhibition by mTORC1.", "evidence": [ { "database": "UniProtKB", "id": "O43156", "url": "https://www.uniprot.org/uniprot/O43156" }, { "database": "PubMed", "id": "23263282", "url": "https://glygen.org/publication/PubMed/23263282" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 244 ], "snv_sites": [ 244, 471, 702, 795, 801, 810 ], "glycation_sites": [], "phosphorylation_sites": [ 459, 816, 828, 959, 962, 967 ], "sequon_annotation_sites": [ { "start_pos": 457, "end_pos": 459 }, { "start_pos": 826, "end_pos": 828 }, { "start_pos": 846, "end_pos": 848 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 19 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }