{ "uniprot_canonical_ac": "P05543-1", "uniprot_ac": "P05543", "uniprot_id": "THBG_HUMAN", "mass": { "chemical_mass": 46325.0, "monoisotopic_mass": 46325.0 }, "refseq": { "ac": "NP_000345", "name": "thyroxine-binding globulin precursor", "summary": "There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone transport protein, TBG, in serum. It belongs to the serpin family in genomics, but the protein has no inhibitory function like many other members of the serpin family. Mutations in this gene result in TGB deficiency, which has been classified as partial deficiency, complete deficiency, and excess, based on the level of serum TBG. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.[provided by RefSeq, Jun 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000345" }, "gene_names": [ { "name": "SERPINA7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05543", "id": "P05543" }, { "name": "SERPINA7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000345", "id": "NP_000345" }, { "name": "TBG; TBGQTL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000345", "id": "NP_000345" }, { "name": "TBG", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05543", "id": "P05543" } ], "protein_names": [ { "name": "Thyroxine-binding globulin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P05543" }, { "name": "Serpin A7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05543" }, { "name": "T4-binding globulin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05543" }, { "name": "thyroxin-binding globulin; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7; serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7; thyroxine-binding globulin; serpin A7; T4-binding globulin; mutant serpin family A member 7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000345", "id": "NP_000345" }, { "name": "thyroxine-binding globulin precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000345", "id": "NP_000345" } ], "function": [ { "annotation": "Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency.", "evidence": [ { "database": "RefSeq", "id": "NP_000345", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000345" }, { "database": "PubMed", "id": "33554479", "url": "https://glygen.org/publication/PubMed/33554479" } ] }, { "annotation": "Identification of Mutations in the Thyroxine-Binding Globulin (TBG) Gene in Patients with TBG Deficiency in Korea.", "evidence": [ { "database": "RefSeq", "id": "NP_000345", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000345" }, { "database": "PubMed", "id": "36475360", "url": "https://glygen.org/publication/PubMed/36475360" } ] }, { "annotation": "Identification of a novel mutation in thyroxine-binding globulin (TBG) gene associated with TBG-deficiency and its effect on the thyroid function.", "evidence": [ { "database": "RefSeq", "id": "NP_000345", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000345" }, { "database": "PubMed", "id": "34761328", "url": "https://glygen.org/publication/PubMed/34761328" } ] }, { "annotation": "Major thyroid hormone transport protein in serum.", "evidence": [ { "database": "UniProtKB", "id": "P05543", "url": "https://www.uniprot.org/uniprot/P05543#function" } ] }, { "annotation": "Partial thyroxine-binding globulin deficiency in a family with coding region mutations in the TBG gene.", "evidence": [ { "database": "RefSeq", "id": "NP_000345", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000345" }, { "database": "PubMed", "id": "32266677", "url": "https://glygen.org/publication/PubMed/32266677" } ] }, { "annotation": "The decrease of T3 / T4 is not hypothyroidism - a new mutation of Serpina7 gene results in partial thyroglobulin deficiency.", "evidence": [ { "database": "RefSeq", "id": "NP_000345", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000345" }, { "database": "PubMed", "id": "34481533", "url": "https://glygen.org/publication/PubMed/34481533" } ] }, { "annotation": "There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone transport protein, TBG, in serum. It belongs to the serpin family in genomics, but the protein has no inhibitory function like many other members of the serpin family. Mutations in this gene result in TGB deficiency, which has been classified as partial deficiency, complete deficiency, and excess, based on the level of serum TBG. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.[provided by RefSeq, Jun 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_000345", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000345" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs28933689", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28933689" }, { "id": "rs28933689", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs28933689#frequency_tab" }, { "id": "2155256", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2155256" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 116, "end_pos": 116, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (ICS->NCS).", "chr_id": "X", "chr_pos": "106036712", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I116", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs865907033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs865907033" }, { "id": "rs865907033", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs865907033" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 122, "end_pos": 122, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFP->NFS).", "chr_id": "X", "chr_pos": "106036695", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P122", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs941717325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs941717325" }, { "id": "rs941717325", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs941717325#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 15, "end_pos": 15, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HAT->NAT).", "chr_id": "X", "chr_pos": "106037016", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H15", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs202158938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202158938" }, { "id": "rs202158938", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202158938" }, { "id": "rs202158938", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs202158938#frequency_tab" }, { "id": "rs202158938", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202158938" }, { "id": "22622578", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22622578" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 162, "end_pos": 162, "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DFS->NFS).", "chr_id": "X", "chr_pos": "106036575", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D162", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs369350028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369350028" }, { "id": "rs369350028", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369350028" }, { "id": "rs369350028", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369350028#frequency_tab" }, { "id": "rs369350028", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369350028" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 165, "end_pos": 165, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->KIS).", "chr_id": "X", "chr_pos": "106036564", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N165", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2234033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2234033" }, { "id": "rs2234033", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2234033" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 167, "end_pos": 167, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->NIF).", "chr_id": "X", "chr_pos": "106036559", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S167", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P05543", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05543" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 222, "end_pos": 222, 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[ { "type": "PubMed", "id": "2155256", "url": "https://glygen.org/publication/PubMed/2155256" } ] }, { "title": "Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia.", "journal": "Nature genetics", "date": "2011", "authors": "Quesada V, Conde L, Villamor N, Ordonez GR, Jares P, Bassaganyas L, Ramsay AJ, Bea S, Pinyol M, Martinez-Trillos A, Lopez-Guerra M, Colomer D, Navarro A, Baumann T, Aymerich M, Rozman M, Delgado J, Gine E, Hernandez JM, Gonzalez-Diaz M, Puente DA, Velasco G, Freije JM, Tubio JM, Royo R, Gelpi JL, Orozco M, Pisano DG, Zamora J, Vazquez M, Valencia A, Himmelbauer H, Bayes M, Heath S, Gut M, Gut I, Estivill X, Lopez-Guillermo A, Puente XS, Campo E, Lopez-Otin C", "evidence": [ { "database": "dbSNP", "id": "rs781359342", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781359342" } ], "reference": [ { "type": "PubMed", "id": "22158541", "url": "https://glygen.org/publication/PubMed/22158541" } ] }, { "title": "Melanoma genome sequencing reveals frequent PREX2 mutations.", "journal": "Nature", "date": "2012", "authors": "Berger MF, Hodis E, Heffernan TP, Deribe YL, Lawrence MS, Protopopov A, Ivanova E, Watson IR, Nickerson E, Ghosh P, Zhang H, Zeid R, Ren X, Cibulskis K, Sivachenko AY, Wagle N, Sucker A, Sougnez C, Onofrio R, Ambrogio L, Auclair D, Fennell T, Carter SL, Drier Y, Stojanov P, Singer MA, Voet D, Jing R, Saksena G, Barretina J, Ramos AH, Pugh TJ, Stransky N, Parkin M, Winckler W, Mahan S, Ardlie K, Baldwin J, Wargo J, Schadendorf D, Meyerson M, Gabriel SB, Golub TR, Wagner SN, Lander ES, Getz G, Chin L, Garraway LA", "evidence": [ { "database": "dbSNP", "id": "rs202158938", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202158938" } ], "reference": [ { "type": "PubMed", "id": "22622578", "url": "https://glygen.org/publication/PubMed/22622578" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "Sequence of the variant thyroxine-binding globulin of Australian aborigines. Only one of two amino acid replacements is responsible for its altered properties.", "journal": "The Journal of clinical investigation", "date": "1989", "authors": "Takeda K, Mori Y, Sobieszczyk S, Seo H, Dick M, Watson F, Flink IL, Seino S, Bell GI, Refetoff S", "evidence": [ { "database": "UniProtKB", "id": "P05543", "url": "https://www.uniprot.org/uniprot/P05543" } ], "reference": [ { "type": "PubMed", "id": "2495303", "url": "https://glygen.org/publication/PubMed/2495303" } ] }, { "title": "A mutation causing reduced biological activity and stability of thyroxine-binding globulin probably as a result of abnormal glycosylation of the molecule.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1989", "authors": "Mori Y, Seino S, Takeda K, Flink IL, Murata Y, Bell GI, Refetoff S", "evidence": [ { "database": "UniProtKB", "id": "P05543", "url": "https://www.uniprot.org/uniprot/P05543" } ], "reference": [ { "type": "PubMed", "id": "2501669", "url": "https://glygen.org/publication/PubMed/2501669" } ] }, { "title": "Large-scale intact glycopeptide identification by Mascot database search.", "journal": "Scientific reports", "date": "2018", "authors": "Bollineni RC, Koehler CJ, Gislefoss RE, Anonsen JH, Thiede B", "evidence": [ { "database": "GlyConnect", "id": "750", "url": "https://glyconnect.expasy.org/browser/proteins/750" } ], "reference": [ { "type": "PubMed", "id": "29391424", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "title": "Site-Specific Profiling of Serum Glycoproteins Using N-Linked Glycan and Glycosite Analysis Revealing Atypical N-Glycosylation Sites on Albumin and alpha-1B-Glycoprotein.", "journal": "Analytical chemistry", "date": "2018", "authors": "Sun S, Hu Y, Jia L, Eshghi ST, Liu Y, Shah P, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "P05543", "url": "" }, { "database": "GlyConnect", "id": "750", "url": "https://glyconnect.expasy.org/browser/proteins/750" } ], "reference": [ { "type": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "750", "url": "https://glyconnect.expasy.org/browser/proteins/750" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Distinct urinary glycoprotein signatures in prostate cancer patients.", "journal": "Oncotarget", "date": "2018", "authors": "Kawahara R, Ortega F, Rosa-Fernandes L, Guimaraes V, Quina D, Nahas W, Schwammle V, Srougi M, Leite KRM, Thaysen-Andersen M, Larsen MR, Palmisano G", "evidence": [ { "database": "GlyConnect", "id": "750", "url": "https://glyconnect.expasy.org/browser/proteins/750" } ], "reference": [ { "type": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "P05543", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Complete amino acid sequence of human thyroxine-binding globulin deduced from cloned DNA: close homology to the serine antiproteases.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1986", "authors": "Flink I L, Bailey T J, Gustafson T A, Markham B E, Morkin E", "evidence": [ { "database": "UniProtKB", "id": "P05543", "url": "https://www.uniprot.org/uniprot/P05543" } ], "reference": [ { "type": "PubMed", "id": "3094014", "url": "https://glygen.org/publication/PubMed/3094014" } ] }, { "title": "Partial thyroxine-binding globulin deficiency in a family with coding region mutations in the TBG gene.", "journal": "Journal of endocrinological investigation", "date": "2020", "authors": "Chen LD, Lu HJ, Gan YL, Pang SW, Zheng Q, Ye DM, Huang XY, Qi HN, Xu WB, Wen XZ, Li LH, Li L", "evidence": [ { "database": "RefSeq", "id": "NP_000345", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000345" } ], "reference": [ { "type": "PubMed", "id": "32266677", "url": "https://glygen.org/publication/PubMed/32266677" } ] }, { "title": "Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency.", "journal": "Molecular genetics & genomic medicine", "date": "2021", "authors": "Fang Y, Chen H, Chen Q, Wang C, Liang L", "evidence": [ { "database": "RefSeq", "id": "NP_000345", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000345" } ], "reference": [ { "type": "PubMed", "id": "33554479", "url": "https://glygen.org/publication/PubMed/33554479" } ] }, { "title": "The decrease of T3 / T4 is not hypothyroidism - a new mutation of Serpina7 gene results in partial thyroglobulin deficiency.", "journal": "Die Pharmazie", "date": "2021", "authors": "Cao L, Lou X, Zhou L, Wu Y", "evidence": [ { "database": "RefSeq", "id": "NP_000345", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000345" } ], "reference": [ { "type": "PubMed", "id": "34481533", "url": "https://glygen.org/publication/PubMed/34481533" } ] }, { "title": "Community evaluation of glycoproteomics informatics solutions reveals high-performance search strategies for serum glycopeptide analysis.", "journal": "Nature methods", "date": "2021", "authors": "Kawahara R, Chernykh A, Alagesan K, Bern M, Cao W, Chalkley RJ, Cheng K, Choo MS, Edwards N, Goldman R, Hoffmann M, Hu Y, Huang Y, Kim JY, Kletter D, Liquet B, Liu M, Mechref Y, Meng B, Neelamegham S, Nguyen-Khuong T, Nilsson J, Pap A, Park GW, Parker BL, Pegg CL, Penninger JM, Phung TK, Pioch M, Rapp E, Sakalli E, Sanda M, Schulz BL, Scott NE, Sofronov G, Stadlmann J, Vakhrushev SY, Woo CM, Wu HY, Yang P, Ying W, Zhang H, Zhang Y, Zhao J, Zaia J, Haslam SM, Palmisano G, Yoo JS, Larson G, Khoo KH, Medzihradszky KF, Kolarich D, Packer NH, Thaysen-Andersen M", "evidence": [ { "database": "GlyConnect", "id": "750", "url": "https://glyconnect.expasy.org/browser/proteins/750" } ], "reference": [ { "type": "PubMed", "id": "34725484", "url": "https://glygen.org/publication/PubMed/34725484" } ] }, { "title": "Identification of a novel mutation in thyroxine-binding globulin (TBG) gene associated with TBG-deficiency and its effect on the thyroid function.", "journal": "Journal of endocrinological investigation", "date": "2022", "authors": "Gawandi S, Jothivel K, Kulkarni S", "evidence": [ { "database": "RefSeq", "id": "NP_000345", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000345" } ], "reference": [ { "type": "PubMed", "id": "34761328", "url": "https://glygen.org/publication/PubMed/34761328" } ] }, { "title": "Identification of Mutations in the Thyroxine-Binding Globulin (TBG) Gene in Patients with TBG Deficiency in Korea.", "journal": "Endocrinology and metabolism (Seoul, Korea)", "date": "2022", "authors": "Heo J, Kim SM, Ryu HJ, Park H, Kim TH, Chung JH, Park HD, Kim SW", "evidence": [ { "database": "RefSeq", "id": "NP_000345", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000345" } ], "reference": [ { "type": "PubMed", "id": "36475360", "url": "https://glygen.org/publication/PubMed/36475360" } ] }, { "title": "Partial amino acid sequence of human thyroxine-binding globulin. Further evidence for a single polypeptide chain.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1977", "authors": "Cheng SY", "evidence": [ { "database": "UniProtKB", "id": "P05543", "url": "https://www.uniprot.org/uniprot/P05543" } ], "reference": [ { "type": "PubMed", "id": "414747", "url": "https://glygen.org/publication/PubMed/414747" } ] }, { "title": "Human thyroxine-binding globulin gene: complete sequence and transcriptional regulation.", "journal": "Mol. Endocrinol.", "date": "1993", "authors": "Hayashi Y, Mori Y, Janssen O E, Sunthornthepvarakul T, Weiss R E, Takeda K, Weinberg M, Seo H, Bell G I, Refetoff S", "evidence": [ { "database": "UniProtKB", "id": "P05543", "url": "https://www.uniprot.org/uniprot/P05543" } ], "reference": [ { "type": "PubMed", "id": "8232304", "url": "https://glygen.org/publication/PubMed/8232304" } ] }, { "title": "The structure of the human thyroxine binding globulin (TBG) gene.", "journal": "Biochim. Biophys. Acta", "date": "1993", "authors": "Akbari M T, Kapadi A, Farmer M J, Fitch N J, McCann K P, Kordestani S, Flink I L, Sheppard M C, Ramsden D B", "evidence": [ { "database": "UniProtKB", "id": "P05543", "url": "https://www.uniprot.org/uniprot/P05543" } ], "reference": [ { "type": "PubMed", "id": "8268226", "url": "https://glygen.org/publication/PubMed/8268226" } ] } ], "pathway": [ { "id": "hsa:6906", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6906", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P61939-1", "protein_name": "Thyroxine-binding globulin", "gene_name": "Serpina7", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSVFFYLFVLVFGLQATIHCAPHNSSEGKVTTCHLPQQNATLYKMPSINADFAFSLYRRLSVENPDLNIFFSPVSISVALAMLSFGSGSSTQTQILEVLGFNLTDTPVTELQQGFQHLICSLNFPKNELELQMGNAVFIGQQLKPLAKFLDDVKTLYETEVFSTDFSNVSAAQHKINSYVEKQTKGKIVGLIQGLKLNIIMILVNYIHFRAQWANPFRVSKTEESSNFSVDKSTTVQVPMMHQLEQYYHYVDMELNCTVLQMDYSENALALFVLPKEGHMEWVEAAMSSKTLKKWNYLLQKGWVELFVPKFSISATYDLGSTLQKMGMRDAFAESADFPGITEDSGLKLSYAFHKAVLHIGEEGTKEGASPEVGSLDQQEVPPLHPVIRLDRAFLLMILEKRTRSVLFLGKLVNPTKQ", "length": 418 }, "evidence": [ { "id": "45927482", "url": "http://www.informatics.jax.org/homology/45927482", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "P05543", "url": "https://www.uniprot.org/uniprot/P05543" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P05543", "url": "https://www.uniprot.org/uniprot/P05543" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P05543", "url": "https://www.uniprot.org/uniprot/P05543" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P05543", "url": "https://www.uniprot.org/uniprot/P05543" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "thyroid hormone transport", "id": "GO:0070327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070327", "evidence": [ { "database": "UniProtKB", "id": "P05543", "url": "https://www.uniprot.org/uniprot/P05543" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "thyroxine-binding globulin N-glycosylated 1 (human)", "definition": "A thyroxine-binding globulin (human) that has been N-glycosylated at the residue equivalent to Asn-36 of the amino acid sequence represented by UniProtKB:P05543-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P05543-1, Asn-36, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053538", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053538" } ] }, { "name": "thyroxine-binding globulin N-glycosylated 2 (human)", "definition": "A thyroxine-binding globulin (human) that has been N-glycosylated at the residue equivalent to Asn-36 of the amino acid sequence represented by UniProtKB:P05543-1, in which the glycan composition is represented by GlyTouCan:G10486CT. Example: UniProtKB:P05543-1, Asn-36, MOD:00160~GNO:G10486CT. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053539", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053539" } ] }, { "name": "thyroxine-binding globulin N-glycosylated 3 (human)", "definition": "A thyroxine-binding globulin (human) that has been N-glycosylated at the residue equivalent to Asn-36 of the amino acid sequence represented by UniProtKB:P05543-1, in which the glycan structure is represented by GlyTouCan:G22140GZ. Example: UniProtKB:P05543-1, Asn-36, MOD:00160~GNO:G22140GZ. [PRO:DNx, PMID:19838169]", "evidence": [ { "id": "PR:000053540", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053540" } ] }, { "name": "thyroxine-binding globulin N-glycosylated 4 (human)", "definition": "A thyroxine-binding globulin (human) that has been N-glycosylated at the residue equivalent to Asn-36 of the amino acid sequence represented by UniProtKB:P05543-1, in which the glycan composition is represented by GlyTouCan:G27947YN. Example: UniProtKB:P05543-1, Asn-36, MOD:00160~GNO:G27947YN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053541", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053541" } ] }, { "name": "thyroxine-binding globulin N-glycosylated 5 (human)", "definition": "A thyroxine-binding globulin (human) that has been N-glycosylated at the residue equivalent to Asn-36 of the amino acid sequence represented by UniProtKB:P05543-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P05543-1, Asn-36, MOD:00160~GNO:G59626AS. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053542", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053542" } ] }, { "name": "thyroxine-binding globulin N-glycosylated 6 (human)", "definition": "A thyroxine-binding globulin (human) that has been N-glycosylated at the residue equivalent to Asn-36 of the amino acid sequence represented by UniProtKB:P05543-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P05543-1, Asn-36, MOD:00160~GNO:G88374WZ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053543", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053543" } ] }, { "name": "thyroxine-binding globulin O-glycosylated 1 (human)", "definition": "A thyroxine-binding globulin (human) that has been O-glycosylated at the residue equivalent to Ser-373 of the amino acid sequence represented by UniProtKB:P05543-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05543-1, Ser-373, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053544", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053544" } ] } ], "site_annotation": [ { "start_pos": 165, "end_pos": 167, "annotation": "n_glycosylation_sequon" }, { "start_pos": 253, "end_pos": 255, "annotation": "n_glycosylation_sequon" }, { "start_pos": 36, "end_pos": 38, "annotation": "n_glycosylation_sequon" }, { "start_pos": 99, "end_pos": 101, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 36, 99, 165, 253 ], "o_linked_sites": [ 373 ], "snv_sites": [ 15, 72, 88, 116, 122, 162, 165, 167, 222, 303, 334, 373, 380 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 165, "end_pos": 167 }, { "start_pos": 253, "end_pos": 255 }, { "start_pos": 36, "end_pos": 38 }, { "start_pos": 99, "end_pos": 101 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 28 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 17 }, { "field": "n_linked_glycan_sites", "count": 7 }, { "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": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "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_with_glycan", "table_stats": [ { "field": "total", "count": 24 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 17 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "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_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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 15 }, { "field": "total_sites", "count": 13 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 10 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 30 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }