{ "uniprot_canonical_ac": "P01266-1", "uniprot_ac": "P01266", "uniprot_id": "THYG_HUMAN", "mass": { "chemical_mass": 304790.0, "monoisotopic_mass": 304790.0 }, "refseq": { "ac": "NP_003226", "name": "thyroglobulin precursor", "summary": "Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003226" }, "gene_names": [ { "name": "TG", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P01266", "id": "P01266" }, { "name": "AITD3; TGN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003226", "id": "NP_003226" }, { "name": "TG", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003226", "id": "NP_003226" } ], "protein_names": [ { "name": "Thyroglobulin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P01266" }, { "name": "Tg", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01266" }, { "name": "thyroglobulin precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003226", "id": "NP_003226" } ], "function": [ { "annotation": "Acts as a substrate for the production of iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3) (PubMed:32025030, PubMed:17532758). The synthesis of T3 and T4 involves iodination of selected tyrosine residues of TG/thyroglobulin followed by their oxidative coupling in the thyroid follicle lumen (PubMed:32025030). Following TG re-internalization and lysosomal-mediated proteolysis, T3 and T4 are released from the polypeptide backbone leading to their secretion into the bloodstream (PubMed:32025030). One dimer produces 7 thyroid hormone molecules (PubMed:32025030).", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266#function" }, { "database": "PubMed", "id": "17532758", "url": "https://glygen.org/publication/PubMed/17532758" }, { "database": "PubMed", "id": "32025030", "url": "https://glygen.org/publication/PubMed/32025030" } ] }, { "annotation": "Diagnostic value of thyroglobulin washout in fine-needle aspiration samples for diagnosis and follow-up of differentiated thyroid cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_003226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003226" }, { "database": "PubMed", "id": "38065908", "url": "https://glygen.org/publication/PubMed/38065908" } ] }, { "annotation": "Lymph node ratio independently associated with postoperative thyroglobulin levels in papillary thyroid cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_003226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003226" }, { "database": "PubMed", "id": "37690364", "url": "https://glygen.org/publication/PubMed/37690364" } ] }, { "annotation": "Serum thyroglobulin as a biomarker of iodine excess and thyroid disease occurrence in adults.", "evidence": [ { "database": "RefSeq", "id": "NP_003226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003226" }, { "database": "PubMed", "id": "37043922", "url": "https://glygen.org/publication/PubMed/37043922" } ] }, { "annotation": "The p.Cys1281Tyr variant in the hinge module/flap region of thyroglobulin causes intracellular transport disorder and congenital hypothyroidism.", "evidence": [ { "database": "RefSeq", "id": "NP_003226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003226" }, { "database": "PubMed", "id": "37164149", "url": "https://glygen.org/publication/PubMed/37164149" } ] }, { "annotation": "Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_003226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003226" } ] }, { "annotation": "[Analysis of pre-ablative and preoperative thyroglobulin in differentiated thyroid cancer].", "evidence": [ { "database": "RefSeq", "id": "NP_003226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003226" }, { "database": "PubMed", "id": "37906818", "url": "https://glygen.org/publication/PubMed/37906818" } ] } ], "disease": [ { "disease_id": "DOID:0112187", "recommended_name": { "id": "DOID:0112187", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112187", "name": "thyroid dyshormonogenesis 3", "description": "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22." }, "synonyms": [ { "id": "DOID:0112187", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112187", "name": "TDH3", "description": "" }, { "id": "DOID:0112187", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112187", "name": "genetic defect in thyroid hormonogenesis 3", "description": "" }, { "id": "MONDO:0010135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010135", "name": "thyroid dyshormonogenesis 3", "description": "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene." }, { "id": "MONDO:0010135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010135", "name": "TDH3", "description": "" }, { "id": "MONDO:0010135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010135", "name": "TG familial thyroid dyshormonogenesis", "description": "" }, { "id": "MONDO:0010135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010135", "name": "familial thyroid dyshormonogenesis caused by mutation in TG", "description": "" }, { "id": "MONDO:0010135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010135", "name": "hypothyroidism, congenital, due to dyshormonogenesis, 3", "description": "" }, { "id": "MONDO:0010135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010135", "name": "thyroid dyshormonogenesis 3", "description": "" }, { "id": "MONDO:0010135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010135", "name": "thyroid dyshormonogenesis type 3", "description": "" }, { "id": "MONDO:0010135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010135", "name": "thyroid hormonogenesis, genetic defect in, 3", "description": "" }, { "id": "MIM:274700", "resource": "MIM", "url": "https://www.omim.org/entry/274700", "name": "Thyroid dyshormonogenesis 3", "description": "Thyroid dyshormonogenesis 3" } ], "evidence": [ { "id": "274700", "database": "MIM", "url": "https://www.omim.org/entry/274700" } ] }, { "disease_id": "MONDO:0011982", "recommended_name": { "id": "MONDO:0011982", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011982", "name": "autoimmune thyroid disease, susceptibility to, 3", "description": "" }, "synonyms": [ { "id": "MONDO:0011982", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011982", "name": "autoimmune thyroid disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0011982", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011982", "name": "autoimmune thyroid disease, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0011982", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011982", "name": "AITD3", "description": "" }, { "id": "MIM:608175", "resource": "MIM", "url": "https://www.omim.org/entry/608175", "name": "Autoimmune thyroid disease 3", "description": "Autoimmune thyroid disease 3" } ], "evidence": [ { "id": "608175", "database": "MIM", "url": "https://www.omim.org/entry/608175" } ] } ], "snv": [ { "evidence": [ { "id": "rs757890854", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757890854" }, { "id": "rs757890854", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757890854" }, { "id": "rs757890854", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757890854" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1350, "end_pos": 1350, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NPS); n-glyco-sequon-loss (NNS->NNP).", "chr_id": "8", "chr_pos": "132911422", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1350", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1380144306", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1380144306" }, { "id": "rs1380144306", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1380144306#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 1869, "end_pos": 1869, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->SQS); n-glyco-sequon-gain (NGN->NGS).", "chr_id": "8", "chr_pos": "132966617", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1869", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200340687", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200340687" }, { "id": "rs200340687", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200340687" }, { "id": "rs200340687", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200340687" }, { "id": "rs200340687", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200340687#frequency_tab" }, { "id": "rs200340687", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200340687" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1098, "end_pos": 1098, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NAS).", "chr_id": "8", "chr_pos": "132898872", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "P1098", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P01266", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01266" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1098, "end_pos": 1098, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPS->NQS).", "chr_id": "8", "chr_pos": "132898873", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1098", "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": "" } 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"database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1159392694" }, { "id": "rs1159392694", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1159392694" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1220, "end_pos": 1220, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->SAS).", "chr_id": "8", "chr_pos": "132906712", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1220", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P01266", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01266" }, { "id": "rs12549018", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs12549018" }, { "id": "rs12549018", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs12549018" }, { "id": "rs12549018", 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Abolishes thyroxine (T4) production; when associated with F-108, F-149, F-2540 and F-2766.", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" }, { "database": "PubMed", "id": "32025030", "url": "https://glygen.org/publication/PubMed/32025030" } ] }, { "start_pos": 24, "end_pos": 24, "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolishes thyroxine (T4) production; when associated with F-1310, F-2573 and F-2766.", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" }, { "database": "PubMed", "id": "32025030", "url": "https://glygen.org/publication/PubMed/32025030" } ] }, { "start_pos": 2540, "end_pos": 2540, "sequence_org": "Y", "sequence_mut": "F", "comment": "Severe loss of thyroxine (T4) production; when associated with F-149 or F-234, and F-108 and F-2766. Abolishes thyroxine (T4) production; when associated with F-108, F-149, F-234 and F-2766.", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" }, { "database": "PubMed", "id": "32025030", "url": "https://glygen.org/publication/PubMed/32025030" } ] }, { "start_pos": 2573, "end_pos": 2573, "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolishes thyroxine (T4) production; when associated with F-24, F-1310 and F-2766.", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" }, { "database": "PubMed", "id": "32025030", "url": "https://glygen.org/publication/PubMed/32025030" } ] }, { "start_pos": 2766, "end_pos": 2766, "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolishes thyroxine (T4) production; when associated with F-24, F-1310 and F-2573.", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" }, { "database": "PubMed", "id": "32025030", "url": "https://glygen.org/publication/PubMed/32025030" } ] }, { "start_pos": 2766, "end_pos": 2766, "sequence_org": "Y", "sequence_mut": "F", "comment": "Severe loss of thyroxine (T4) production; when associated with F-149 or F-234, and F-108 and F-2540. Abolishes thyroxine (T4) production; when associated with F-108, F-149, F-234 and F-2540.", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" }, { "database": "PubMed", "id": "32025030", "url": "https://glygen.org/publication/PubMed/32025030" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "75.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000042832", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000042832" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "44.98", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000042832", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000042832" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "48.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000042832", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000042832" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "73.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000042832", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000042832" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "71.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000042832", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000042832" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "60.2", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000042832", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000042832" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000042832", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000042832" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "62.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000042832", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000042832" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "99.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000042832", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000042832" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000042832", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000042832" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "69.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000042832", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000042832" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "81.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000042832", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000042832" } ] }, { "tissue": { "name": "Thoracic mammary 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new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "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 familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" 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"description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "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 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "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", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"https://www.uniprot.org/uniprot/H0YBJ2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YBJ2-1", "url": "https://www.uniprot.org/uniprot/H0YBJ2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YBL4", "url": "https://www.uniprot.org/uniprot/H0YBL4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YBL4-1", "url": "https://www.uniprot.org/uniprot/H0YBL4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YBQ6", "url": "https://www.uniprot.org/uniprot/H0YBQ6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YBQ6-1", "url": "https://www.uniprot.org/uniprot/H0YBQ6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YBR7", "url": "https://www.uniprot.org/uniprot/H0YBR7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YBR7-1", "url": "https://www.uniprot.org/uniprot/H0YBR7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YBY1", "url": "https://www.uniprot.org/uniprot/H0YBY1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YBY1-1", "url": "https://www.uniprot.org/uniprot/H0YBY1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P01266-1", "url": "https://www.uniprot.org/uniprot/P01266-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P01266-2", "url": "https://www.uniprot.org/uniprot/P01266-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MALVLEIFTLLASICWVSANIFEYQVDAQPLRPCELQRETAFLKQADYVPQCAEDGSFQTVQCQNDGRSCWCVGANGSEVLGSRQPGRPVACLSFCQLQKQQILLSGYINSTDTSYLPQCQDSGDYAPVQCDVQQVQCWCVDAEGMEVYGTRQLGRPKRCPRSCEIRNRRLLHGVGDKSPPQCSAEGEFMPVQCKFVNTTDMMIFDLVHSYNRFPDAFVTFSSFQRRFPEVSGYCHCADSQGRELAETGLELLLDEIYDTIFAGLDLPSTFTETTLYRILQRRFLAVQSVISGRFRCPTKCEVERFTATSFGHPYVPSCRRNGDYQAVQCQTEGPCWCVDAQGKEMHGTRQQGEPPSCAEGQSCASERQQALSRLYFGTSGYFSQHDLFSSPEKRWASPRVARFATSCPPTIKELFVDSGLLRPMVEGQSQQFSVSENLLKEAIRAIFPSRGLARLALQFTTNPKRLQQNLFGGKFLVNVGQFNLSGALGTRGTFNFSQFFQQLGLASFLNGGRQEDLAKPLSVGLDSNSSTGTPEAAKKDGTMNKPTVGSFGFEINLQENQNALKFLASLLELPEFLLFLQHAISVPEDVARDLGDVMETVLSSQTCEQTPERLFVPSCTTEGSYEDVQCFSGECWCVNSWGKELPGSRVRGGQPRCPTDCEKQRARMQSLMGSQPAGSTLFVPACTSEGHFLPVQCFNSECYCVDAEGQAIPGTRSAIGKPKKCPTPCQLQSEQAFLRTVQALLSNSSMLPTLSDTYIPQCSTDGQWRQVQCNGPPEQVFELYQRWEAQNKGQDLTPAKLLVKIMSYREAASGNFSLFIQSLYEAGQQDVFPVLSQYPSLQDVPLAALEGKRPQPRENILLEPYLFWQILNGQLSQYPGSYSDFSTPLAHFDLRNCWCVDEAGQELEGMRSEPSKLPTCPGSCEEAKLRVLQFIRETEEIVSASNSSRFPLGESFLVAKGIRLRNEDLGLPPLFPPREAFAEQFLRGSDYAIRLAAQSTLSFYQRRRFSPDDSAGASALLRSGPYMPQCDAFGSWEPVQCHAGTGHCWCVDEKGGFIPGSLTARSLQIPQCPTTCEKSRTSGLLSSWKQARSQENPSPKDLFVPACLETGEYARLQASGAGTWCVDPASGEELRPGSSSSAQCPSLCNVLKSGVLSRRVSPGYVPACRAEDGGFSPVQCDQAQGSCWCVMDSGEEVPGTRVTGGQPACESPRCPLPFNASEVVGGTILCETISGPTGSAMQQCQLLCRQGSWSVFPPGPLICSLESGRWESQLPQPRACQRPQLWQTIQTQGHFQLQLPPGKMCSADYADLLQTFQVFILDELTARGFCQIQVKTFGTLVSIPVCNNSSVQVGCLTRERLGVNVTWKSRLEDIPVASLPDLHDIERALVGKDLLGRFTDLIQSGSFQLHLDSKTFPAETIRFLQGDHFGTSPRTWFGCSEGFYQVLTSEASQDGLGCVKCPEGSYSQDEECIPCPVGFYQEQAGSLACVPCPVGRTTISAGAFSQTHCVTDCQRNEAGLQCDQNGQYRASQKDRGSGKAFCVDGEGRRLPWWETEAPLEDSQCLMMQKFEKVPESKVIFDANAPVAVRSKVPDSEFPVMQCLTDCTEDEACSFFTVSTTEPEISCDFYAWTSDNVACMTSDQKRDALGNSKATSFGSLRCQVKVRSHGQDSPAVYLKKGQGSTTTLQKRFEPTGFQNMLSGLYNPIVFSASGANLTDAHLFCLLACDRDLCCDGFVLTQVQGGAIICGLLSSPSVLLCNVKDWMDPSEAWANATCPGVTYDQESHQVILRLGDQEFIKSLTPLEGTQDTFTNFQQVYLWKDSDMGSRPESMGCRKDTVPRPASPTEAGLTTELFSPVDLNQVIVNGNQSLSSQKHWLFKHLFSAQQANLWCLSRCVQEHSFCQLAEITESASLYFTCTLYPEAQVCDDIMESNAQGCRLILPQMPKALFRKKVILEDKVKNFYTRLPFQKLMGISIRNKVPMSEKSISNGFFECERRCDADPCCTGFGFLNVSQLKGGEVTCLTLNSLGIQMCSEENGGAWRILDCGSPDIEVHTYPFGWYQKPIAQNNAPSFCPLVVLPSLTEKVSLDSWQSLALSSVVVDPSIRHFDVAHVSTAATSNFSAVRDLCLSECSQHEACLITTLQTQPGAVRCMFYADTQSCTHSLQGQNCRLLLREEATHIYRKPGISLLSYEASVPSVPISTHGRLLGRSQAIQVGTSWKQVDQFLGVPYAAPPLAERRFQAPEPLNWTGSWDASKPRASCWQPGTRTSTSPGVSEDCLYLNVFIPQNVAPNASVLVFFHNTMDREESEGWPAIDGSFLAAVGNLIVVTASYRVGVFGFLSSGSGEVSGNWGLLDQVAALTWVQTHIRGFGGDPRRVSLAADRGGADVASIHLLTARATNSQLFRRAVLMGGSALSPAAVISHERAQQQAIALAKEVSCPMSSSQEVVSCLRQKPANVLNDAQTKLLAVSGPFHYWGPVIDGHFLREPPARALKRSLWVEVDLLIGSSQDDGLINRAKAVKQFEESRGRTSSKTAFYQALQNSLGGEDSDARVEAAATWYYSLEHSTDDYASFSRALENATRDYFIICPIIDMASAWAKRARGNVFMYHAPENYGHGSLELLADVQFALGLPFYPAYEGQFSLEEKSLSLKIMQYFSHFIRSGNPNYPYEFSRKVPTFATPWPDFVPRAGGENYKEFSELLPNRQGLKKADCSFWSKYISSLKTSADGAKGGQSAESEEEELTAGSGLREDLLSLQEPGSKTYSK", "length": 2768, "header": "sp|P01266-1|THYG_HUMAN Isoform 1 of Thyroglobulin OS=Homo sapiens OX=9606 GN=TG PE=1 SV=5 CANONICAL=P01266-1" }, "isoforms": [ { "isoform_ac": "E5RG33-1", "url": "", "sequence": { "sequence": "MALVLEIFTLLASICWVSANIFEYQVDAQPLRPCELQRETAFLKQADYVPQCAEDGSFQ", "length": 59, "header": "tr|E5RG33-1|THYG_HUMAN Computationally mapped isoform of Thyroglobulin OS=Homo sapiens OX=9606 GN=TG PE=1 SV=1 CANONICAL=P01266-1" }, "locus": { "chromosome": "8", "start_pos": 132868224, "end_pos": 132867001, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000523901.1", "url": "https://www.ensembl.org/id/ENST00000523901.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000427871.1", "url": "https://www.ensembl.org/id/ENSP00000427871.1" } ] } }, { "isoform_ac": "E7EVM0-1", "url": "", "sequence": { "sequence": "MLPGLTTELFSPVDLNQVIVNGNQSLSSQKHWLFKHLFSAQQANLWCLSRCVQEHSFCQLAEITESASLYFTCTLYPEAQVCDDIMESNAQGCRLILPQMPKALFRKKVILEDKVKNFYTRLPFQKLMGISIRNKVPMSEKSISNGFFECERRCDADPCCTGFGFLNVSQLKGGEVTCLTLNSLGIQMCSEENGGAWRILDCGSPDIEVHTYPFGWYQKPMSLDSWQSLALSSVVVDPSIRHFDVAHVSTAATSNFSAVRDLCLSECSQHEACLITTLQTQPGAVRCMFYADTQSCTHSLQGQNCRLLLREEATHIYRKPGISLLSYEASVPSVPISTHGRLLGRSQAIQVGTSWKQVDQFLGVPYAAPPLAERRFQAPEPLNWTGSWDASKPRASCWQPGTRTSTSPGVSEDCLYLNVFIPQNVAPNASVLVFFHNTMDREESEGWPAIDGSFLAAVGNLIVVTASYRVGVFGFLSSGSGEVSGNWGLLDQVAALTWVQTHIRGFGGDPRRVSLAADRGGADVASIHLLTARATNSQLFRRAVLMGGSALSPAAVISHERAQQQAIALAKEVSCPMSSSQEVVSCLRQKPANVLNDAQTKLLAVSGPFHYWGPVIDGHFLREPPARALKRSLWVEVDLLIGSSQDDGLINRAKAVKQFEESRGRTSSKTAFYQALQNSLGGEDSDARVEAAATWYYSLEHSTDDYASFSRALENATRDYFIICPIIDMASAWAKRARGNVFMYHAPENYGHGSLELLADVQFALGLPFYPAYEGQFSLEEKSLSLKIMQYFSHFIRSGNPNYPYEFSRKVPTFATPWPDFVPRAGGENYKEFSELLPNRQGLKKADCSFWSKYISSLKTSADGAKGGQSAESEEEELTAGSGLREDLLSLQEPGSKTYSK", "length": 901, "header": "tr|E7EVM0-1|THYG_HUMAN Computationally mapped isoform of Thyroglobulin OS=Homo sapiens OX=9606 GN=TG PE=1 SV=1 CANONICAL=P01266-1" }, "locus": { "chromosome": "8", "start_pos": 133134791, "end_pos": 132964924, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000519543.5", "url": "https://www.ensembl.org/id/ENST00000519543.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000430430.1", "url": "https://www.ensembl.org/id/ENSP00000430430.1" } ] } }, { "isoform_ac": "H0YB42-1", "url": "", "sequence": { "sequence": "XSAGASALLRSGPYMPQCDAFGSWEPVQCHAGTGHCWCVDEKGGFIPGSLTARSLQIPQCPTTCEKSRTSGLLSSWKQARSQENPSPKDLFVPACLEARGVRCHSTRRRWLVEQSCVRQSRAPQALPCSSANCCAARAPGACFHQGH", "length": 147, "header": "tr|H0YB42-1|H0YB42_HUMAN Computationally mapped isoform of Thyroglobulin OS=Homo sapiens OX=9606 GN=TG PE=1 SV=1 CANONICAL=P01266-1" }, "locus": { "chromosome": "8", "start_pos": 132906839, "end_pos": 132897689, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000523756.5", "url": "https://www.ensembl.org/id/ENST00000523756.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428628.1", "url": "https://www.ensembl.org/id/ENSP00000428628.1" } ] } }, { "isoform_ac": "H0YBC5-1", "url": "", "sequence": { "sequence": "XSDMGSRPESMGCRKDTVPRPASPTEAGCVQEHSFCQLAEITESASLYFTCTLYPEAQVCDD", "length": 62, "header": "tr|H0YBC5-1|H0YBC5_HUMAN Computationally mapped isoform of Thyroglobulin OS=Homo sapiens OX=9606 GN=TG PE=4 SV=1 CANONICAL=P01266-1" }, "locus": { "chromosome": "8", "start_pos": 132967897, "end_pos": 132962994, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000518058.1", "url": "https://www.ensembl.org/id/ENST00000518058.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000429164.1", "url": "https://www.ensembl.org/id/ENSP00000429164.1" } ] } }, { "isoform_ac": "H0YBJ2-1", "url": "", "sequence": { "sequence": "XGSWEPVQCHAGTGHCWCVDEKGGFIPGSLTARSLQIPQCPTTCEKSRTSGLLSSWKQARSQENPSPKDLFVPACLETGEYARLQASGAGTWCVDPASGEELRPGSSSSAQSCRAEDGGFSPVQCDQAQGSCWCVMDSGEEVPGTRVTGGQPACESPRCPLPFNASEVVGGTILCETISGPTGSAMQQCQLLCRQGSWSVFPPGPLICSLESGRWESQLPQPRACQ", "length": 226, "header": "tr|H0YBJ2-1|THYG_HUMAN Computationally mapped isoform of Thyroglobulin OS=Homo sapiens OX=9606 GN=TG PE=1 SV=1 CANONICAL=P01266-1" }, "locus": { "chromosome": "8", "start_pos": 132906900, "end_pos": 132897748, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000518505.1", "url": "https://www.ensembl.org/id/ENST00000518505.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000429605.1", "url": "https://www.ensembl.org/id/ENSP00000429605.1" } ] } }, { "isoform_ac": "H0YBL4-1", "url": "", "sequence": { "sequence": "XHSECQWREHSLRPLPFLTPFSSLSQQESLCSAMRHLYLLCPFPPMAGCWAGPRPSRASCWQPGTRTSTSPGVSEDCLYLNVFIPQNVAPNASVLVFFHNTMDREESEGWPAIDGSFLAAVGNLIVVTASYRVGVFGFLSSGSGEVSGNWGLLDQVAALTWVQTHIRGFGGDPRRVSLAADRGGADVASIHLLT", "length": 194, "header": "tr|H0YBL4-1|H0YBL4_HUMAN Computationally mapped isoform of Thyroglobulin OS=Homo sapiens OX=9606 GN=TG PE=1 SV=1 CANONICAL=P01266-1" }, "locus": { "chromosome": "8", "start_pos": 133029979, "end_pos": 133017699, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000518108.1", "url": "https://www.ensembl.org/id/ENST00000518108.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000429761.1", "url": "https://www.ensembl.org/id/ENSP00000429761.1" } ] } }, { "isoform_ac": "H0YBQ6-1", "url": "", "sequence": { "sequence": "XGIQMCSEENGGAWRILDCGSPDIEVHTYPFGWYQKPIAQNNAPSFCPLVVLPSLTEKVFKVREVRGTQLKRME", "length": 74, "header": "tr|H0YBQ6-1|H0YBQ6_HUMAN Computationally mapped isoform of Thyroglobulin OS=Homo sapiens OX=9606 GN=TG PE=1 SV=1 CANONICAL=P01266-1" }, "locus": { "chromosome": "8", "start_pos": 132994764, "end_pos": 132972632, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522797.1", "url": "https://www.ensembl.org/id/ENST00000522797.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000430087.1", "url": "https://www.ensembl.org/id/ENSP00000430087.1" } ] } }, { "isoform_ac": "H0YBR7-1", "url": "", "sequence": { "sequence": "SDARVEAAATWYYSLEHSTDDYASFSRALENATRDYFIICPIIDMASAWAKRARGNVFMYHAPENYGHGRNPNYPYEFSRKVPTFATPWPDFVPRAGGENYKEFSELLPNRQGLKKADCSFWSKYISSLKTSADGAKGGQSAESEEEELTAGSGLREDLLSLQEPGSKTYSK", "length": 172, "header": "tr|H0YBR7-1|H0YBR7_HUMAN Computationally mapped isoform of Thyroglobulin OS=Homo sapiens OX=9606 GN=TG PE=1 SV=1 CANONICAL=P01266-1" }, "locus": { "chromosome": "8", "start_pos": 133134791, "end_pos": 133113503, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000521107.1", "url": "https://www.ensembl.org/id/ENST00000521107.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000430161.1", "url": "https://www.ensembl.org/id/ENSP00000430161.1" } ] } }, { "isoform_ac": "H0YBY1-1", "url": "", "sequence": { "sequence": "XQEQAGSLACVPCPVGRTTISAGAFSQTHCVTDCQRNEAGLQCDQNGQYRASQKDRGSGKAFCVDGEGRRLPWWETEAPLEDSQCLMMQKFEKVPESKVIFDANAPVAVRSKVPDSEFPVMQCLTDCTEDEACSFFTVSTTEPEISCDFYAWTSDNVACMTSDQKRDALGNSKATSFGSLRCQVKVRSHGQDSPAVYLKKGAIICGLLSSPSVLLCNVKDWMDPSEAWANATCPGVTYDQESHQVILRLGDQEFIKSLTPLEGTQDTFTNFQQVYLWKDSDMGSRPESMGCRKDTVPRPASPTEAGLTTELFSPVDLNQVIVNGNQSLSSQKHWLFKHLFSAQQANLWCLSRCVQEHSFCQLAEITESASLYFTCTLYPEAQVCDDIMESNAQGCRLILPQMPKALFRKKVILEDKVKNFYTRLPFQKLMGISIRNKVPMSEKSISNGFFECERRCDADPCCTGFGFLNVSQLKGGEVTCLTLNSLGIQMCSEENGGAWRILDCGSPDIEVHTYPFGWYQKPIAQNNAPSFCPLVVLPSLTEKVSLDSWQSLALSSVVVDPSIRHFDVAHVSTAATSNFSAVRDLCLSECSQHEACLITTLQTQPGAVRCMFYADTQSCTHSLQGQNCRLLLREEATHIYRKPGISLLSYEASVPSVPISTHGRLLGRSQAIQVGTSWKQVDQFLGVPYAAPPLAERRFQAPEPLNWTGSWDASKPRASCWQPGTRTSTSPGVSEDCLYLNVFIPQNVAPNASVLVFFHNTMDREESEGWPAIDGSFLAAVGNLIVVTASYRVGVFGFLSSGSGEVSGNWGLLDQVAALTWVQTHIRGFGGDPRRVSLAADRGGADVASIHLLTARATNSQLFRRAVLMGGSALSPAAVISHERAQQQAIALAKEVSCPMSSSQEVVSCLRQKPANVLNDAQTKLLAVSGPFHYWGPVIDGHFLREPPARALKRSLWVEVDLLIGSSQDDGLINRAKAVKQFEESRGRTSSKTAFYQALQNSLGGEDSDARVEAAATWYYSLEHSTDDYASFSRALENATRDYFIICPIIDMASAWAKRARGNVFMYHAPENYGHGSLELLADVQFALGLPFYPAYEGQFSLEEKSLSLKIMQYFSHFIRSGNPNYPYEFSRKVPTFATPWPDFVPRAGGENYKEFSELLPNRQGLKKADCSFWSKYISSLKTSADGAKGGQSAESEEEELTAGSGLREDLLSLQEPGSKTYSK", "length": 1224, "header": "tr|H0YBY1-1|THYG_HUMAN Computationally mapped isoform of Thyroglobulin OS=Homo sapiens OX=9606 GN=TG PE=1 SV=1 CANONICAL=P01266-1" }, "locus": { "chromosome": "8", "start_pos": 133134793, "end_pos": 132919440, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000519178.5", "url": "https://www.ensembl.org/id/ENST00000519178.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000430523.1", "url": "https://www.ensembl.org/id/ENSP00000430523.1" } ] } }, { "isoform_ac": "P01266-1", "url": "", "sequence": { "sequence": "MALVLEIFTLLASICWVSANIFEYQVDAQPLRPCELQRETAFLKQADYVPQCAEDGSFQTVQCQNDGRSCWCVGANGSEVLGSRQPGRPVACLSFCQLQKQQILLSGYINSTDTSYLPQCQDSGDYAPVQCDVQQVQCWCVDAEGMEVYGTRQLGRPKRCPRSCEIRNRRLLHGVGDKSPPQCSAEGEFMPVQCKFVNTTDMMIFDLVHSYNRFPDAFVTFSSFQRRFPEVSGYCHCADSQGRELAETGLELLLDEIYDTIFAGLDLPSTFTETTLYRILQRRFLAVQSVISGRFRCPTKCEVERFTATSFGHPYVPSCRRNGDYQAVQCQTEGPCWCVDAQGKEMHGTRQQGEPPSCAEGQSCASERQQALSRLYFGTSGYFSQHDLFSSPEKRWASPRVARFATSCPPTIKELFVDSGLLRPMVEGQSQQFSVSENLLKEAIRAIFPSRGLARLALQFTTNPKRLQQNLFGGKFLVNVGQFNLSGALGTRGTFNFSQFFQQLGLASFLNGGRQEDLAKPLSVGLDSNSSTGTPEAAKKDGTMNKPTVGSFGFEINLQENQNALKFLASLLELPEFLLFLQHAISVPEDVARDLGDVMETVLSSQTCEQTPERLFVPSCTTEGSYEDVQCFSGECWCVNSWGKELPGSRVRGGQPRCPTDCEKQRARMQSLMGSQPAGSTLFVPACTSEGHFLPVQCFNSECYCVDAEGQAIPGTRSAIGKPKKCPTPCQLQSEQAFLRTVQALLSNSSMLPTLSDTYIPQCSTDGQWRQVQCNGPPEQVFELYQRWEAQNKGQDLTPAKLLVKIMSYREAASGNFSLFIQSLYEAGQQDVFPVLSQYPSLQDVPLAALEGKRPQPRENILLEPYLFWQILNGQLSQYPGSYSDFSTPLAHFDLRNCWCVDEAGQELEGMRSEPSKLPTCPGSCEEAKLRVLQFIRETEEIVSASNSSRFPLGESFLVAKGIRLRNEDLGLPPLFPPREAFAEQFLRGSDYAIRLAAQSTLSFYQRRRFSPDDSAGASALLRSGPYMPQCDAFGSWEPVQCHAGTGHCWCVDEKGGFIPGSLTARSLQIPQCPTTCEKSRTSGLLSSWKQARSQENPSPKDLFVPACLETGEYARLQASGAGTWCVDPASGEELRPGSSSSAQCPSLCNVLKSGVLSRRVSPGYVPACRAEDGGFSPVQCDQAQGSCWCVMDSGEEVPGTRVTGGQPACESPRCPLPFNASEVVGGTILCETISGPTGSAMQQCQLLCRQGSWSVFPPGPLICSLESGRWESQLPQPRACQRPQLWQTIQTQGHFQLQLPPGKMCSADYADLLQTFQVFILDELTARGFCQIQVKTFGTLVSIPVCNNSSVQVGCLTRERLGVNVTWKSRLEDIPVASLPDLHDIERALVGKDLLGRFTDLIQSGSFQLHLDSKTFPAETIRFLQGDHFGTSPRTWFGCSEGFYQVLTSEASQDGLGCVKCPEGSYSQDEECIPCPVGFYQEQAGSLACVPCPVGRTTISAGAFSQTHCVTDCQRNEAGLQCDQNGQYRASQKDRGSGKAFCVDGEGRRLPWWETEAPLEDSQCLMMQKFEKVPESKVIFDANAPVAVRSKVPDSEFPVMQCLTDCTEDEACSFFTVSTTEPEISCDFYAWTSDNVACMTSDQKRDALGNSKATSFGSLRCQVKVRSHGQDSPAVYLKKGQGSTTTLQKRFEPTGFQNMLSGLYNPIVFSASGANLTDAHLFCLLACDRDLCCDGFVLTQVQGGAIICGLLSSPSVLLCNVKDWMDPSEAWANATCPGVTYDQESHQVILRLGDQEFIKSLTPLEGTQDTFTNFQQVYLWKDSDMGSRPESMGCRKDTVPRPASPTEAGLTTELFSPVDLNQVIVNGNQSLSSQKHWLFKHLFSAQQANLWCLSRCVQEHSFCQLAEITESASLYFTCTLYPEAQVCDDIMESNAQGCRLILPQMPKALFRKKVILEDKVKNFYTRLPFQKLMGISIRNKVPMSEKSISNGFFECERRCDADPCCTGFGFLNVSQLKGGEVTCLTLNSLGIQMCSEENGGAWRILDCGSPDIEVHTYPFGWYQKPIAQNNAPSFCPLVVLPSLTEKVSLDSWQSLALSSVVVDPSIRHFDVAHVSTAATSNFSAVRDLCLSECSQHEACLITTLQTQPGAVRCMFYADTQSCTHSLQGQNCRLLLREEATHIYRKPGISLLSYEASVPSVPISTHGRLLGRSQAIQVGTSWKQVDQFLGVPYAAPPLAERRFQAPEPLNWTGSWDASKPRASCWQPGTRTSTSPGVSEDCLYLNVFIPQNVAPNASVLVFFHNTMDREESEGWPAIDGSFLAAVGNLIVVTASYRVGVFGFLSSGSGEVSGNWGLLDQVAALTWVQTHIRGFGGDPRRVSLAADRGGADVASIHLLTARATNSQLFRRAVLMGGSALSPAAVISHERAQQQAIALAKEVSCPMSSSQEVVSCLRQKPANVLNDAQTKLLAVSGPFHYWGPVIDGHFLREPPARALKRSLWVEVDLLIGSSQDDGLINRAKAVKQFEESRGRTSSKTAFYQALQNSLGGEDSDARVEAAATWYYSLEHSTDDYASFSRALENATRDYFIICPIIDMASAWAKRARGNVFMYHAPENYGHGSLELLADVQFALGLPFYPAYEGQFSLEEKSLSLKIMQYFSHFIRSGNPNYPYEFSRKVPTFATPWPDFVPRAGGENYKEFSELLPNRQGLKKADCSFWSKYISSLKTSADGAKGGQSAESEEEELTAGSGLREDLLSLQEPGSKTYSK", "length": 2768, "header": "sp|P01266-1|THYG_HUMAN Isoform 1 of Thyroglobulin OS=Homo sapiens OX=9606 GN=TG PE=1 SV=5 CANONICAL=P01266-1" }, "locus": { "chromosome": "8", "start_pos": 133134791, "end_pos": 132867001, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000220616.9", "url": "https://www.ensembl.org/id/ENST00000220616.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000220616.4", "url": "https://www.ensembl.org/id/ENSP00000220616.4" } ] } }, { "isoform_ac": "P01266-2", "url": "", "sequence": { "sequence": "MALVLEIFTLLASICWVSANIFEYQVDAQPLRPCELQRETAFLKQADYVPQCAEDGSFQTVQCQNDGRSCWCVGANGSEVLGSRQPGRPVACLSFCQLQKQQILLSGYINSTDTSYLPQCQDSGDYAPVQCDVQQVQCWCVDAEGMEVYGTRQLGRPKRCPRSCEIRNRRLLHGVGDKSPPQCSAEGEFMPVQCKFVNTTDMMIFDLVHSYNRFPDAFVTFSSFQRRFPEVSGYCHCADSQGRELAETGLELLLDEIYDTIFAGLDLPSTFTETTLYRILQRRFLAVQSVISGRFRCPTKCEVERFTATSFGHPYVPSCRRNGDYQAVQCQTEGPCWCVDAQGKEMHGTRQQGEPPSCAEGQSCASERQQALSRLYFGTSGYFSQHDLFSSPEKRWASPRVARFATSCPPTIKELFVDSGLLRPMVEGQSQQFSVSENLLKEAIRAIFPSRGLARLALQFTTNPKRLQQNLFGGKFLVNVGQFNLSGALGTRGTFNFSQFFQQLGLASFLNGGRQEDLAKPLSVGLDSNSSTGTPEAAKKDGTMNKPTVGSFGFEINLQENQNALKFLASLLELPEFLLFLQHAISVPEDVARDLGDVMETVLSSQTCEQTPERLFVPSCTTEGSYEDVQCFSGECWCVNSWGKELPGSRVRGGQPRCPTDCEKQRARMQSLMGSQPAGSTLFVPACTSEGHFLPVQCFNSECYCVDAEGQAIPGTRSAIGKPKKCPTPCQLQSEQAFLRTVQALLSNSSMLPTLSDTYIPQCSTDGQWRQVQCNGPPEQVFELYQRWEAQNKGQDLTPAKLLVKIMSYREAASGNFSLFIQSLYEAGQQDVFPVLSQYPSLQDVPLAALEGKRPQPRENILLEPYLFWQILNGQLSQYPGSYSDFSTPLAHFDLRNCWCVDEAGQELEGMRSEPSKLPTCPGSCEEAKLRVLQFIRETEEIVSASNSSRFPLGESFLVAKGIRLRNEDLGLPPLFPPREAFAEQFLRGSDYAIRLAAQSTLSFYQRRRFSPDDSAGASALLRSGPYMPQCDAFGSWEPVQCHAGTGHCWCVDEKGGFIPGSLTARSLQIPQCPTTCEKSRTSGLLSSWKQARSQENPSPKDLFVPACLETGEYARLQASGAGTWCVDPASGEELRPGSSSSAQCPSLCNVLKSGVLSRRVSPGYVPACRAEDGGFSPVQCDQAQGSCWCVMDSGEEVPGTRVTGGQPACESPRCPLPFNASEVVGGTILCETISGPTGSAMQQCQLLCRQGSWSVFPPGPLICSLESGRWESQLPQPRACQRPQLWQTIQTQGHFQLQLPPGKMCSADYADLLQTFQVFILDELTARGFCQIQVKTFGTLVSIPVCNNSSVQVGCLTRERLGVNVTWKSRLEDIPVASLPDLHDIERALVGKDLLGRFTDLIQSGSFQLHLDSKTFPAETIRFLQGDHFGTSPRTWFGCSEGFYQVLTSEASQDGLGCVKCPEGSYSQDEECIPCPVGFYQEQAGSLACVPCPVGRTTISAGAFSQTHLMQKFEKVPESKVIFDANAPVAVRSKVPDSEFPVMQCLTDCTEDEACSFFTVSTTEPEISCDFYAWTSDNVACMTSDQKRDALGNSKATSFGSLRCQVKVRSHGQDSPAVYLKKGQGSTTTLQKRFEPTGFQNMLSGLYNPIVFSASGANLTDAHLFCLLACDRDLCCDGFVLTQVQGGAIICGLLSSPSVLLCNVKDWMDPSEAWANATCPGVTYDQESHQVILRLGDQEFIKSLTPLEGTQDTFTNFQQVYLWKDSDMGSRPESMGCRKDTVPRPASPTEAGLTTELFSPVDLNQVIVNGNQSLSSQKHWLFKHLFSAQQANLWCLSRCVQEHSFCQLAEITESASLYFTCTLYPEAQVCDDIMESNAQGCRLILPQMPKALFRKKVILEDKVKNFYTRLPFQKLMGISIRNKVPMSEKSISNGFFECERRCDADPCCTGFGFLNVSQLKGGEVTCLTLNSLGIQMCSEENGGAWRILDCGSPDIEVHTYPFGWYQKPIAQNNAPSFCPLVVLPSLTEKVSLDSWQSLALSSVVVDPSIRHFDVAHVSTAATSNFSAVRDLCLSECSQHEACLITTLQTQPGAVRCMFYADTQSCTHSLQGQNCRLLLREEATHIYRKPGISLLSYEASVPSVPISTHGRLLGRSQAIQVGTSWKQVDQFLGVPYAAPPLAERRFQAPEPLNWTGSWDASKPRASCWQPGTRTSTSPGVSEDCLYLNVFIPQNVAPNASVLVFFHNTMDREESEGWPAIDGSFLAAVGNLIVVTASYRVGVFGFLSSGSGEVSGNWGLLDQVAALTWVQTHIRGFGGDPRRVSLAADRGGADVASIHLLTARATNSQLFRRAVLMGGSALSPAAVISHERAQQQAIALAKEVSCPMSSSQEVVSCLRQKPANVLNDAQTKLLAVSGPFHYWGPVIDGHFLREPPARALKRSLWVEVDLLIGSSQDDGLINRAKAVKQFEESRGRTSSKTAFYQALQNSLGGEDSDARVEAAATWYYSLEHSTDDYASFSRALENATRDYFIICPIIDMASAWAKRARGNVFMYHAPENYGHGSLELLADVQFALGLPFYPAYEGQFSLEEKSLSLKIMQYFSHFIRSGNPNYPYEFSRKVPTFATPWPDFVPRAGGENYKEFSELLPNRQGLKKADCSFWSKYISSLKTSADGAKGGQSAESEEEELTAGSGLREDLLSLQEPGSKTYSK", "length": 2711, "header": "sp|P01266-2|THYG_HUMAN Isoform 2 of Thyroglobulin OS=Homo sapiens OX=9606 GN=TG PE=1 SV=5 CANONICAL=P01266-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 110, "start_aa": "Asn", "end_pos": 110, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn110", "evidence": [ { "id": "P01266", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01266#ptm_processing" }, { "id": "32025030", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32025030" }, { "id": "6SCJ", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/6SCJ" }, { "id": "35995381", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/35995381" }, { "id": "35995381", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35995381" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1220, "start_aa": "Asn", "end_pos": 1220, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1220", "evidence": [ { "id": "P01266", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01266#ptm_processing" }, { "id": "8615697", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8615697" }, { "id": "6SCJ", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/6SCJ" }, { "id": "32025030", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32025030" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1348, "start_aa": "Asn", "end_pos": 1348, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1348", "evidence": [ { "id": "P01266", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01266#ptm_processing" }, { "id": "8615697", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8615697" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1349, "start_aa": "Asn", "end_pos": 1349, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1349", "evidence": [ { "id": "P01266", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01266#ptm_processing" }, { "id": "8615697", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8615697" }, { "id": "6SCJ", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/6SCJ" }, { "id": "32025030", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32025030" } ] }, { "glytoucan_ac": "G00406II", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1365, "start_aa": "Asn", "end_pos": 1365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1365", "evidence": [ { "id": "600", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/600" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1365, "start_aa": "Asn", "end_pos": 1365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1365", "evidence": [ { "id": "600", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/600" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G06110VR", 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Endocrinol.", "date": "1992", "authors": "Targovnik HM, Cochaux P, Corach D, Vassart G", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "reference": [ { "type": "PubMed", "id": "1639210", "url": "https://glygen.org/publication/PubMed/1639210" } ] }, { "title": "A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.", "journal": "Journal of human genetics", "date": "2006", "authors": "Kitanaka S, Takeda A, Sato U, Miki Y, Hishinuma A, Ieiri T, Igarashi T", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "reference": [ { "type": "PubMed", "id": "16477365", "url": "https://glygen.org/publication/PubMed/16477365" } ] }, { "title": "A single chondroitin 6-sulfate oligosaccharide unit at Ser-2730 of human thyroglobulin enhances hormone formation and limits proteolytic accessibility at the carboxyl terminus. Potential insights into thyroid homeostasis and autoimmunity.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Conte M, Arcaro A, D'Angelo D, Gnata A, Mamone G, Ferranti P, Formisano S, Gentile F", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266#ptm_processing" }, { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "reference": [ { "type": "PubMed", "id": "16679516", "url": "https://glygen.org/publication/PubMed/16679516" } ] }, { "title": "Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2007", "authors": "Kanou Y, Hishinuma A, Tsunekawa K, Seki K, Mizuno Y, Fujisawa H, Imai T, Miura Y, Nagasaka T, Yamada C, Ieiri T, Murakami M, Murata Y", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "reference": [ { "type": "PubMed", "id": "17244789", "url": "https://glygen.org/publication/PubMed/17244789" } ] }, { "title": "Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.", "journal": "Clinical endocrinology", "date": "2007", "authors": "Caputo M, Rivolta CM, Esperante SA, Gruneiro-Papendieck L, Chiesa A, Pellizas CG, Gonzalez-Sarmiento R, Targovnik HM", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "reference": [ { "type": "PubMed", "id": "17532758", "url": "https://glygen.org/publication/PubMed/17532758" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "P01266-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P01266-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2009", "authors": "Pardo V, Vono-Toniolo J, Rubio IG, Knobel M, Possato RF, Targovnik HM, Kopp P, Medeiros-Neto G", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "reference": [ { "type": "PubMed", "id": "19509106", "url": "https://glygen.org/publication/PubMed/19509106" } ] }, { "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": "P01266-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P01266-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.", "journal": "Journal of human genetics", "date": "2016", "authors": "Mittal K, Rafiq MA, Rafiullah R, Harripaul R, Ali H, Ayaz M, Aslam M, Naeem F, Amin-Ud-Din M, Waqas A, So J, Rappold GA, Vincent JB, Ayub M", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "reference": [ { "type": "PubMed", "id": "27305979", "url": "https://glygen.org/publication/PubMed/27305979" } ] }, { "title": "Consensus sequences for early iodination and hormonogenesis in human thyroglobulin.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Lamas L, Anderson PC, Fox JW, Dunn JT", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "reference": [ { "type": "PubMed", "id": "2760035", "url": "https://glygen.org/publication/PubMed/2760035" } ] }, { "title": "Hormone synthesis in human thyroglobulin: possible cleavage of the polypeptide chain at the tyrosine donor site.", "journal": "FEBS Lett.", "date": "1989", "authors": "Marriq C, Lejeune P J, Venot N, Vinet L", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "reference": [ { "type": "PubMed", "id": "2914619", "url": "https://glygen.org/publication/PubMed/2914619" } ] }, { "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": "UniCarbKB", "id": "P01266", "url": "" }, { "database": "GlyConnect", "id": "600", "url": "https://glyconnect.expasy.org/browser/proteins/600" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "An unusually long poly(purine)-poly(pyrimidine) sequence is located upstream from the human thyroglobulin gene.", "journal": "Nucleic Acids Res.", "date": "1985", "authors": "Christophe D, Cabrer B, Bacolla A, Targovnik H, Pohl V, Vassart G", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "reference": [ { "type": "PubMed", "id": "2991855", "url": "https://glygen.org/publication/PubMed/2991855" } ] }, { "title": "The structure of human thyroglobulin.", "journal": "Nature", "date": "2020", "authors": "Coscia F, Taler-Vercic A, Chang VT, Sinn L, O'Reilly FJ, Izore T, Renko M, Berger I, Rappsilber J, Turk D, Lowe J", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266#ptm_processing" }, { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "reference": [ { "type": "PubMed", "id": "32025030", "url": "https://glygen.org/publication/PubMed/32025030" } ] }, { "title": "Primary structure of human thyroglobulin deduced from the sequence of its 8448-base complementary DNA.", "journal": "European journal of biochemistry", "date": "1987", "authors": "Malthiery Y, Lissitzky S", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "reference": [ { "type": "PubMed", "id": "3595599", "url": "https://glygen.org/publication/PubMed/3595599" } ] }, { "title": "Site-specific N-glycosylation analysis of human thyroid thyroglobulin by mass spectrometry-based Glyco-analytical strategies.", "journal": "Journal of proteomics", "date": "2022-09-15", "authors": "Kayili H Mehmet, Salih Bekir", "evidence": [ { "database": "Automatic Literature Mining", "id": "35995381", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/35995381" } ], "reference": [ { "type": "PubMed", "id": "35995381", "url": "https://glygen.org/publication/PubMed/35995381" } ] }, { "title": "Structural organization of the 5' region of the thyroglobulin gene. Evidence for intron loss and `exonization` during evolution.", "journal": "Journal of molecular biology", "date": "1987", "authors": "Parma J, Christophe D, Pohl V, Vassart G", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "reference": [ { "type": "PubMed", "id": "3681978", "url": "https://glygen.org/publication/PubMed/3681978" } ] }, { "title": "Serum thyroglobulin as a biomarker of iodine excess and thyroid disease occurrence in adults.", "journal": "Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS)", "date": "2023-04-05", "authors": "Du Yang, Liu Peng, Zhang Wei, Yao Jinyin, Meng Fangang, Fan Lijun, Liu Lixiang, Li Ming, Lv Chunpeng, Jiang Wen, Sun Dianjun", "evidence": [ { "database": "RefSeq", "id": "NP_003226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003226" } ], "reference": [ { "type": "PubMed", "id": "37043922", "url": "https://glygen.org/publication/PubMed/37043922" } ] }, { "title": "The p.Cys1281Tyr variant in the hinge module/flap region of thyroglobulin causes intracellular transport disorder and congenital hypothyroidism.", "journal": "Molecular and cellular endocrinology", "date": "2023-05-08", "authors": "Gomes Pio Mauricio, Adrover Ezequiela, Miras Mirta B, Sobrero Gabriela, Molina Maricel F, Scheps Karen G, Rivolta Carina M, Targovnik H\u00e9ctor M", "evidence": [ { "database": "RefSeq", "id": "NP_003226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003226" } ], "reference": [ { "type": "PubMed", "id": "37164149", "url": "https://glygen.org/publication/PubMed/37164149" } ] }, { "title": "Lymph node ratio independently associated with postoperative thyroglobulin levels in papillary thyroid cancer.", "journal": "Oral oncology", "date": "2023-11", "authors": "Hei Hu, Luo Ziyu, Zheng Chen, Gong Wenbo, Zhou Bin, Fang Jugao, Qin Jianwu", "evidence": [ { "database": "RefSeq", "id": "NP_003226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003226" } ], "reference": [ { "type": "PubMed", "id": "37690364", "url": "https://glygen.org/publication/PubMed/37690364" } ] }, { "title": "[Analysis of pre-ablative and preoperative thyroglobulin in differentiated thyroid cancer].", "journal": "Revista medica de Chile", "date": "2022-07", "authors": "Fuenzalida-Mery Lucas, Gonz\u00e1lez-Arestiz\u00e1bal Tom\u00e1s, Portilla-Rojas Marcelo, Gac-Espinoza Patricio, Rodr\u00edguez-Moreno Francisco, Caban\u00e9Toledo Patricio, Rappoport-Wurgaft Daniel", "evidence": [ { "database": "RefSeq", "id": "NP_003226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003226" } ], "reference": [ { "type": "PubMed", "id": "37906818", "url": "https://glygen.org/publication/PubMed/37906818" } ] }, { "title": "Diagnostic value of thyroglobulin washout in fine-needle aspiration samples for diagnosis and follow-up of differentiated thyroid cancer.", "journal": "Medicine", "date": "2023-12-08", "authors": "Kargun Sinem, Aydemir Mustafa, Yilmaz Nusret, Ozdem Sebahat, Sari Ramazan", "evidence": [ { "database": "RefSeq", "id": "NP_003226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003226" } ], "reference": [ { "type": "PubMed", "id": "38065908", "url": "https://glygen.org/publication/PubMed/38065908" } ] }, { "title": "Sequence of the 5'-end quarter of the human-thyroglobulin messenger ribonucleic acid and of its deduced amino-acid sequence.", "journal": "European journal of biochemistry", "date": "1985", "authors": "Malthiery Y, Lissitzky S", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "reference": [ { "type": "PubMed", "id": "3971976", "url": "https://glygen.org/publication/PubMed/3971976" } ] }, { "title": "Studies on the carbohydrate units of thyroglobulin. Structure of the mannose-N-acetylglucosamine unit (unit A) of the human and calf proteins.", "journal": "The Journal of biological chemistry", "date": "1972", "authors": "Arima T, Spiro RG", "evidence": [ { "database": "GlyConnect", "id": "600", "url": "https://glyconnect.expasy.org/browser/proteins/600" } ], "reference": [ { "type": "PubMed", "id": "4335100", "url": "https://glygen.org/publication/PubMed/4335100" } ] }, { "title": "Characterization of hormonogenic sites in an N-terminal, cyanogen bromide fragment of human thyroglobulin.", "journal": "Arch. Biochem. Biophys.", "date": "1995", "authors": "Xiao S, Pollock H G, Taurog A, Rawitch A B", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "reference": [ { "type": "PubMed", "id": "7793989", "url": "https://glygen.org/publication/PubMed/7793989" } ] }, { "title": "Thyroglobulin gene point mutation associated with non-endemic simple goitre.", "journal": "Lancet", "date": "1993", "authors": "Corral J, Mart\u00edn C, P\u00e9rez R, S\u00e1nchez I, Mories M T, San Millan J L, Miralles J M, Gonz\u00e1lez-Sarmiento R", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "reference": [ { "type": "PubMed", "id": "8094490", "url": "https://glygen.org/publication/PubMed/8094490" } ] }, { "title": "Preferential sites of proteolytic cleavage of bovine, human and rat thyroglobulin. The use of limited proteolysis to detect solvent-exposed regions of the primary structure.", "journal": "Eur. J. Biochem.", "date": "1993", "authors": "Gentile F, Salvatore G", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "reference": [ { "type": "PubMed", "id": "8269951", "url": "https://glygen.org/publication/PubMed/8269951" } ] }, { "title": "Glycosylation in human thyroglobulin: location of the N-linked oligosaccharide units and comparison with bovine thyroglobulin.", "journal": "Archives of biochemistry and biophysics", "date": "1996", "authors": "Yang SX, Pollock HG, Rawitch AB", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266#ptm_processing" }, { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "reference": [ { "type": "PubMed", "id": "8615697", "url": "https://glygen.org/publication/PubMed/8615697" } ] }, { "title": "Multimerization of thyroglobulin (TG) during extracellular storage: isolation of highly cross-linked TG from human thyroids.", "journal": "J. Clin. Endocrinol. Metab.", "date": "1996", "authors": "Berndorfer U, Wilms H, Herzog V", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "reference": [ { "type": "PubMed", "id": "8626858", "url": "https://glygen.org/publication/PubMed/8626858" } ] }, { "title": "Characterization of the type-1 repeat from thyroglobulin, a cysteine-rich module found in proteins from different families.", "journal": "Eur. J. Biochem.", "date": "1996", "authors": "Molina F, Bouanani M, Pau B, Granier C", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "reference": [ { "type": "PubMed", "id": "8797845", "url": "https://glygen.org/publication/PubMed/8797845" } ] }, { "title": "The revised 8307 base pair coding sequence of human thyroglobulin transiently expressed in eukaryotic cells.", "journal": "Eur. J. Endocrinol.", "date": "1997", "authors": "van de Graaf S A, Pauws E, de Vijlder J J, Ris-Stalpers C R", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "reference": [ { "type": "PubMed", "id": "9186272", "url": "https://glygen.org/publication/PubMed/9186272" } ] } ], "pathway": [ { "id": "hsa:7038", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7038", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "O08710-1", "protein_name": "Thyroglobulin", "gene_name": "Tg", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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"length": 2766 }, "evidence": [ { "id": "45924452", "url": "http://www.informatics.jax.org/homology/45924452", "database": "MGI" }, { "id": "P01266", "url": "https://omabrowser.org/oma/group/P01266/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P06882-1", "protein_name": "Thyroglobulin", "gene_name": "Tg", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MMTLVLWVSTLLSSVCLVAANIFEYQVDAQPLRPCELQREKAFLKQDEYVPQCSEDGSFQTVQCQNDGQSCWCVDSDGTEVPGSRQLGRPTACLSFCQLHKQRILLSSYINSTDALYLPQCQDSGNYAPVQCDLQQVQCWCVDTEGMEVYGTRQQGRPTRCPRSCEIRSRRLLHGVGDKSPPQCDADGEFMPVQCKFVNTTDMMIFDLIHNYNRFPDAFVTFSAFRNRFPEVSGYCYCADSQGRELAETGLELLLDEIYDTIFAGLDQASTFTQSTMYRILQRRFLAIQLVISGRFRCPTKCEVEQFTATSFGHPYIPSCHRDGHYQTVQCQMERMCWCVDAQGIEIPGTRQQGQPLFCAKDQSCASERQQALSRLYFETPGYFSPQDLLSSEDRLVPVSGARLDISCPPRIKELFVDSGLLRSIAVERYQQLSESRSLLREAIRAIFPSRELAGLALQFTTNPKRLQQNLFGGTFLVNAAQLNLSGALGTRSTFNFSQFFQQFGLPGFLVRDRATDLAKLLPVSLDSSPTPVPLRVPEKRVAMNKSVVGTFGFKVNLQENQDALKFLVSLMELPEFLVFLQRAVSVPEDRARDLGDVMEMVFSAQACKQTSGRFFVPSCTAEGSYEDIQCYAGECWCVNSQGKEVEGSRVSGGHPRCPTKCEKQRAQMQNLAGAQPAGSSFFVPTCTSEGYFLPVQCFNSECYCVDAEGQVIPGTQSTIGEPKLCPSVCQLQAEQAFLGVVGVLLSNSSMVPPISSVYIPQCSTSGQWMPVQCDGPHEQVFEWYERWNTQNSDGQELTTATLLMKLMSYREVASTNFSLFLQSLYDAGQQSIFPVLAQYPSLQDVPQVVLEGATIQPGENIFLDPYIFWQILNGQLSQYPGPYSDFSMPLEHFNLRSCWCVDEAGQELDGTRTRAGEIPACPGPCEEVKFRVLKFIKETEEIVSASNASSFPLGESFLVAKGIQLTSEELGLPPLYPSREAFSEKFLRGSEYAIRLAAQSTLTFYQKLRASLGESNGTASLLWSGPYMPQCNTIGGWEPVQCHPGTGQCWCVDGWGELIPGSLMARSSQMPQCPTSCELSRANGLISAWKQAGHQRNPGPGDLFTPVCLQTGEYVRQQTSGTGAWCVDPSSGEGVPTNTNSSAQCPGLCDALKSRVLSRKVGLGYTPVCEALDGGFSPVQCDLAQGSCWCVLASGEEVPGTRVVGTQPACESPQCPLPFSGSDVTDGVVFCETASSSGVTTVQQCQLFCRQGLRNVFSPGPLICNLESQRWVTLPLPRACQRPQLWQTMQTQAHFQLLLPPGKMCSIDYSGLLQAFQVFILDELITRGFCQIQVKTFGTLVSRTVCDNSSIQVGCLTAERLGVNATWKLQLEDISVGSLPNLHSIERALMGQDLLGRFANLIQSGKFQLHLDSKTFSADTILYFLNGDRFVTSPMTQLGCLEGFYRVSTTSQDPLGCVKCPEGSFSQDGKCTPCPAGTYQGQAGSSACIPCPRGRTTTITGAFSKTHCVTDCQRDEAGLQCDQNGQYQANQKDMDSGEVFCVDSEGQRLQWLQTEAGLSESQCLMMRKFEKAPESKVIFDASSPVIVKSRVPSANSPLVQCLADCADDEACSFVTVSSMSSEVSCDLYSWTRDNFACVTSDQEEDAVDSLKETSFGSLRCQVKVRNSGKDSLAVYVKKGHEFTASGQKSFEPTGFQNVLSGLYSSVVFSALGTNLTDTHLFCLLACDQDSCCDGFIVTQVKEGPTICGLLSAPDILVCHINDWRDASDTQANGTCAGVTYDQGSRQMTMSLGGQEFLQGLTLLEGTQDSFISFQQVYLWKDSDIGSRPESMGCGRGMVPKSEAPEGADMATELFSPVDITQVIVNTSHSLPSQQYWLSTHLFSAEQANLWCLSRCAQEPVFCQLADIMESSSLYFTCSLYPEAQVCDNDVESNAKNCSQILPRQPTALFQRKVVLNDRVKNFYTRLPFQKLSGISIRDRIPMSEKLISNGFFECERLCDRDPCCTGFGFLNVSQMQGGEMTCLTLNSMGIQTCSEENGATWRILDCGSEDTEVHTYPFGWYQKPAVWSDAPSFCPSAALQSLTEEKVALDSWQTLALSSVIIDPSIKHFDVAHISISATRNFSLAQDFCLQECSRHQDCLVTTLQIQQGVVRCVFYPDIQSCEHSLRSKTCWLLLHEEAAYIYRKSGAPLHQSDGISTPSVHIDSFGQLQGGSQVVKVGTAWKQVYQFLGVPYAAPPLAENRFQAPEVLNWTGSWDATKLRSSCWQPGTRTPTPPQISEDCLYLNVFVPENLVSNASVLVFFHNTVEMEGSGGQLNIDGSILAAVGNLIVVTANYRLGVFGFLSSGSDEVAGNWGLLDQVAALTWVQTHIGAFGGDPQRVTLAADRGGADVASIHLLITRPTRLQLFRKALLMGGSALSPAAIISPDRAQQQAAALAKEVGCPNSSVQEVVSCFRQKPANILNEAQTKLLAVSGPFHYWGPVVDGQYLRELPSRRLKRPLPVKVDLLIGGSQDDGLINRAKAVKQFEESQGRTNSKTAFYQALQNSLGGEDSDARILAAAIWYYSLEHSTDDYASFSRALENATRDYFIICPIVNMASLWARRTRGNVFMYHVPESYGHGSLELLADVQYAFGLPFYSAYQGYFSTEEQSLSLKVMQYFSNFIRSGNPNYPHEFSQKAAEFATPWPDFVPGAGGESYKELSAQLPNRQGLKKADCSFWSKYIQTLKDADGAKDAQLTKSGEEDLEVGPGSEEDFSGSLEPVPKSYSK", "length": 2768 }, "evidence": [ { "id": "45924452", "url": "http://www.informatics.jax.org/homology/45924452", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "thyroid gland development", "id": "GO:0030878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030878", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "pmid": "" }, { "name": "hormone biosynthetic process", "id": "GO:0042446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042446", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "pmid": "" }, { "name": "iodide transport", "id": "GO:0015705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015705", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "pmid": "" }, { "name": "regulation of myelination", "id": "GO:0031641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031641", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "pmid": "" }, { "name": "thyroid hormone generation", "id": "GO:0006590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006590", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "pmid": "" }, { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 110, "end_pos": 112, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1220, "end_pos": 1222, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1348, "end_pos": 1350, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1349, "end_pos": 1351, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1365, "end_pos": 1367, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1716, "end_pos": 1718, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1774, "end_pos": 1776, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1869, "end_pos": 1871, "annotation": "n_glycosylation_sequon" }, { "start_pos": 198, "end_pos": 200, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2013, "end_pos": 2015, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2122, "end_pos": 2124, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2250, "end_pos": 2252, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2295, "end_pos": 2297, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2582, "end_pos": 2584, "annotation": "n_glycosylation_sequon" }, { "start_pos": 484, "end_pos": 486, "annotation": "n_glycosylation_sequon" }, { "start_pos": 496, "end_pos": 498, "annotation": "n_glycosylation_sequon" }, { "start_pos": 529, "end_pos": 531, "annotation": "n_glycosylation_sequon" }, { "start_pos": 748, "end_pos": 750, "annotation": "n_glycosylation_sequon" }, { "start_pos": 76, "end_pos": 78, "annotation": "n_glycosylation_sequon" }, { "start_pos": 816, "end_pos": 818, "annotation": "n_glycosylation_sequon" }, { "start_pos": 947, "end_pos": 949, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Iodinated on tyrosine residues by TPO (PubMed:2760035, PubMed:32025030). There are 4 pairs of iodinated tyrosines used for coupling: acceptor Tyr-24 is coupled to donor Tyr-149 or Tyr-234, acceptor Tyr-2573 is coupled to donor Tyr-2540, acceptor Tyr-2766 in monomer 1 is coupled to donor Tyr-2766 in monomer 2 and acceptor Tyr-1310 in monomer 1 is coupled to donor Tyr-108 in monomer 2 (PubMed:32025030).", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" }, { "database": "PubMed", "id": "32025030", "url": "https://glygen.org/publication/PubMed/32025030" }, { "database": "PubMed", "id": "2760035", "url": "https://glygen.org/publication/PubMed/2760035" } ] }, { "annotation": "Sulfated tyrosines are desulfated during iodination.", "evidence": [ { "database": "UniProtKB", "id": "P01266", "url": "https://www.uniprot.org/uniprot/P01266" }, { "database": "PubMed", "id": "10448091", "url": "https://glygen.org/publication/PubMed/10448091" } ] } ], "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": [ 76, 110, 198, 484, 529, 748, 816, 947, 1220, 1348, 1349, 1365, 1716, 1774, 1869, 2013, 2122, 2250, 2295, 2582 ], "o_linked_sites": [ 2749 ], "snv_sites": [ 55, 67, 76, 78, 109, 110, 113, 198, 472, 484, 530, 541, 748, 806, 816, 818, 874, 885, 949, 1098, 1220, 1222, 1350, 1365, 1367, 1405, 1506, 1716, 1718, 1774, 1776, 1811, 1869, 1912, 1993, 1999, 2015, 2072, 2073, 2124, 2142, 2177, 2250, 2256, 2293, 2295, 2296, 2306, 2318, 2520, 2584, 2618, 2671, 2714, 2726, 2749, 2765 ], "glycation_sites": [], "phosphorylation_sites": [ 1652, 2728 ], "sequon_annotation_sites": [ { "start_pos": 110, "end_pos": 112 }, { "start_pos": 1220, "end_pos": 1222 }, { "start_pos": 1348, "end_pos": 1350 }, { "start_pos": 1349, "end_pos": 1351 }, { "start_pos": 1365, "end_pos": 1367 }, { "start_pos": 1716, "end_pos": 1718 }, { "start_pos": 1774, "end_pos": 1776 }, { "start_pos": 1869, "end_pos": 1871 }, { "start_pos": 198, "end_pos": 200 }, { "start_pos": 2013, "end_pos": 2015 }, { "start_pos": 2122, "end_pos": 2124 }, { "start_pos": 2250, "end_pos": 2252 }, { "start_pos": 2295, "end_pos": 2297 }, { "start_pos": 2582, "end_pos": 2584 }, { "start_pos": 484, "end_pos": 486 }, { "start_pos": 496, "end_pos": 498 }, { "start_pos": 529, "end_pos": 531 }, { "start_pos": 748, "end_pos": 750 }, { "start_pos": 76, "end_pos": 78 }, { "start_pos": 816, "end_pos": 818 }, { "start_pos": 947, "end_pos": 949 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 42 }, { "field": "total_sites", "count": 22 }, { "field": "n_linked_glycans", "count": 20 }, { "field": "n_linked_glycan_sites", "count": 22 }, { "field": "o_linked_glycans", "count": 0 }, { "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": 21 }, { "field": "total_sites", "count": 21 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 20 }, { "field": "o_linked_glycans", "count": 0 }, { "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_with_glycan", "table_stats": [ { "field": "total", "count": 21 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 20 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "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_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": 2 }, { "field": "total_sites", "count": 2 } ], "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": 75 }, { "field": "total_sites", "count": 57 } ], "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": 14 }, { "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_non_disease", "table_stats": [ { "field": "total", "count": 61 }, { "field": "total_sites", "count": 50 } ], "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": 37 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }