{ "uniprot_canonical_ac": "P07202-1", "uniprot_ac": "P07202", "uniprot_id": "PERT_HUMAN", "mass": { "chemical_mass": 102963.0, "monoisotopic_mass": 102963.0 }, "refseq": { "ac": "NP_000538", "name": "thyroid peroxidase isoform a precursor", "summary": "This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000538" }, "gene_names": [ { "name": "TPO", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07202", "id": "P07202" }, { "name": "MSA; TDH2A; TPX", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000538", "id": "NP_000538" }, { "name": "TPO", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000538", "id": "NP_000538" } ], "protein_names": [ { "name": "Thyroid peroxidase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07202" }, { "name": "1.11.1.8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07202" }, { "name": "TPO", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07202" }, { "name": "thyroid peroxidase isoform a precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000538", "id": "NP_000538" }, { "name": "thyroperoxidase; thyroid microsomal antigen", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000538", "id": "NP_000538" } ], "function": [ { "annotation": "Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000538" }, { "database": "PubMed", "id": "37780999", "url": "https://glygen.org/publication/PubMed/37780999" } ] }, { "annotation": "Investigation of diversity generated by alternative splicing", "evidence": [ { "database": "RefSeq", "id": "NP_000538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000538" }, { "database": "PubMed", "id": "12454013", "url": "https://glygen.org/publication/PubMed/12454013" } ] }, { "annotation": "Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4).", "evidence": [ { "database": "UniProtKB", "id": "P07202", "url": "https://www.uniprot.org/uniprot/P07202#function" }, { "database": "UniProtKB", "id": "P09933", "url": "https://www.uniprot.org/uniprot/P09933#function" }, { "database": "UniProtKB", "id": "H7C1F5", "url": "https://www.uniprot.org/uniprot/H7C1F5#function" }, { "database": "UniProtKB", "id": "ARBA00003834", "url": "https://www.uniprot.org/uniprot/ARBA00003834#function" } ] }, { "annotation": "Longitudinal Associations Between TPO Gene Variants and Thyroid Peroxidase Antibody Seroconversion in a Population-Based Study: Tehran Thyroid Study.", "evidence": [ { "database": "RefSeq", "id": "NP_000538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000538" }, { "database": "PubMed", "id": "36989526", "url": "https://glygen.org/publication/PubMed/36989526" } ] }, { "annotation": "TPO as an indicator of lymph node metastasis and recurrence in papillary thyroid carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000538" }, { "database": "PubMed", "id": "37407700", "url": "https://glygen.org/publication/PubMed/37407700" } ] }, { "annotation": "This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. 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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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}, { "id": "23336", "url": "https://www.rhea-db.org/rhea/23336", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "48956", "url": "https://www.rhea-db.org/rhea/48956", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "48960", "url": "https://www.rhea-db.org/rhea/48960", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "48964", "url": "https://www.rhea-db.org/rhea/48964", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "48968", "url": "https://www.rhea-db.org/rhea/48968", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "C9J511", "url": "https://www.uniprot.org/uniprot/C9J511", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J511-1", "url": "https://www.uniprot.org/uniprot/C9J511-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PFM6", "url": "https://www.uniprot.org/uniprot/E9PFM6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PFM6-1", "url": "https://www.uniprot.org/uniprot/E9PFM6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y6H4", "url": "https://www.uniprot.org/uniprot/H0Y6H4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y6H4-1", "url": "https://www.uniprot.org/uniprot/H0Y6H4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C1F5", "url": "https://www.uniprot.org/uniprot/H7C1F5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C1F5-1", "url": "https://www.uniprot.org/uniprot/H7C1F5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C5B6", "url": "https://www.uniprot.org/uniprot/H7C5B6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C5B6-1", "url": "https://www.uniprot.org/uniprot/H7C5B6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07202", "url": "https://www.uniprot.org/uniprot/P07202", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07202-1", "url": "https://www.uniprot.org/uniprot/P07202-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07202-2", "url": "https://www.uniprot.org/uniprot/P07202-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07202-3", "url": "https://www.uniprot.org/uniprot/P07202-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07202-4", "url": "https://www.uniprot.org/uniprot/P07202-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07202-5", "url": "https://www.uniprot.org/uniprot/P07202-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07202-6", "url": "https://www.uniprot.org/uniprot/P07202-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07202-7", "url": "https://www.uniprot.org/uniprot/P07202-7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07202-8", "url": "https://www.uniprot.org/uniprot/P07202-8", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRALAVLSVTLVMACTEAFFPFISRGKELLWGKPEESRVSSVLEESKRLVDTAMYATMQRNLKKRGILSPAQLLSFSKLPEPTSGVIARAAEIMETSIQAMKRKVNLKTQQSQHPTDALSEDLLSIIANMSGCLPYMLPPKCPNTCLANKYRPITGACNNRDHPRWGASNTALARWLPPVYEDGFSQPRGWNPGFLYNGFPLPPVREVTRHVIQVSNEVVTDDDRYSDLLMAWGQYIDHDIAFTPQSTSKAAFGGGADCQMTCENQNPCFPIQLPEEARPAAGTACLPFYRSSAACGTGDQGALFGNLSTANPRQQMNGLTSFLDASTVYGSSPALERQLRNWTSAEGLLRVHARLRDSGRAYLPFVPPRAPAACAPEPGIPGETRGPCFLAGDGRASEVPSLTALHTLWLREHNRLAAALKALNAHWSADAVYQEARKVVGALHQIITLRDYIPRILGPEAFQQYVGPYEGYDSTANPTVSNVFSTAAFRFGHATIHPLVRRLDASFQEHPDLPGLWLHQAFFSPWTLLRGGGLDPLIRGLLARPAKLQVQDQLMNEELTERLFVLSNSSTLDLASINLQRGRDHGLPGYNEWREFCGLPRLETPADLSTAIASRSVADKILDLYKHPDNIDVWLGGLAENFLPRARTGPLFACLIGKQMKALRDGDWFWWENSHVFTDAQRRELEKHSLSRVICDNTGLTRVPMDAFQVGKFPEDFESCDSITGMNLEAWRETFPQDDKCGFPESVENGDFVHCEESGRRVLVYSCRHGYELQGREQLTCTQEGWDFQPPLCKDVNECADGAHPPCHASARCRNTKGGFQCLCADPYELGDDGRTCVDSGRLPRVTWISMSLAALLIGGFAGLTSTVICRWTRTGTKSTLPISETGGGTPELRCGKHQAVGTSPQRAAAQDSEQESAGMEGRDTHRLPRAL", "length": 933, "header": "sp|P07202-1|PERT_HUMAN Isoform 1 of Thyroid peroxidase OS=Homo sapiens OX=9606 GN=TPO PE=1 SV=4 CANONICAL=P07202-1" }, "isoforms": [ { "isoform_ac": "C9J511-1", "url": "", "sequence": { "sequence": "MRALAVLSVTLVMACTEAFFPFISRGKELLWGKPEESRVSSVLEESKRLVDTAMYATMQRNLKKRGILSPAQLLSFSKLPEPTSGVIARAAEIMETSIQAMKRKVNLKTQQSQHPTDALSEDLLSIIANMSGCLPYMLPPKCPNTCLANKYRPITGACNNRDHPRWGASNT", "length": 171, "header": "tr|C9J511-1|C9J511_HUMAN Computationally mapped isoform of Thyroid peroxidase OS=Homo sapiens OX=9606 GN=TPO PE=4 SV=8 CANONICAL=P07202-1" }, "locus": { "chromosome": "2", "start_pos": 1453724, "end_pos": 1414409, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000423320.5", "url": "https://www.ensembl.org/id/ENST00000423320.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000390994.1", "url": "https://www.ensembl.org/id/ENSP00000390994.1" } ] } }, { "isoform_ac": "E9PFM6-1", "url": "", "sequence": { "sequence": "MRALAVLSVTLVMACTEAFFPFISRGKELLWGKPEESRVSSVLEESKRLVDTAMYATMQRNLKKRGILSPAQLLSFSKLPEPTSGVIARAAEIMETSIQAMKRKVNLKTQQSQHPTDALSEDLLSIIANMSGCLPYMLPPKCPNTCLANKYRPITGACNNRKMKYKPDHSETAN", "length": 174, "header": "tr|E9PFM6-1|E9PFM6_HUMAN Computationally mapped isoform of Thyroid peroxidase OS=Homo sapiens OX=9606 GN=TPO PE=1 SV=1 CANONICAL=P07202-1" }, "locus": { "chromosome": "2", "start_pos": 1438855, "end_pos": 1414409, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000382269.7", "url": "https://www.ensembl.org/id/ENST00000382269.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000371704.3", "url": "https://www.ensembl.org/id/ENSP00000371704.3" } ] } }, { "isoform_ac": "H0Y6H4-1", "url": "", "sequence": { "sequence": "QLLSFSKLPEPTSGVIARAAEIMETSIQAMKRKVNLKTQQSQHPTDALSEDLLSIIANMSGCLPYMLPPKCPNTCLANKYRPITGACNNRDHPRWGASNTALARWLPPVYEDGFSQPRGWNPGFLYNGFPLPPVREVTRHVIQVSNEVVTDDDRYSDLLMAWGQYIDHDIAFTPQSTSKAAFGGGADCQMTCENQNPCFPIQLPEEARPAAGTACLPFYRSSAACGTGDQGALFGNLSTANPRQQMNGLTSFLDASTVYGSSPALERQLRNWTSAEGLLRVHARLRDSGRAYLPFVPPRAPAACAPEPGIPGETRGPCFLAGDGRASEVPSLTALHTLWLREHNRLAAALKALNAHWSADAVYQEARKVVGALHQIITLRDYIPRILGPEAFQQYVGPYEGYDSTANPTVSNVFSTAAFRFGHATIHPLVRRLDASFQEHPDLPGLWLHQAFFSPWTLLRGGGLDPLIRGLLARPAKLQVQDQLMNEELTERLFVLSNSSTLDLASINLQRGRDHGLPGYNEWREFCGLPRLETPADLSTAIASRSVADKILDLYKHPDNIDVWLGGLAENFLPRARTGPLFACLIGKQMKALRDGDWFWWENSHVFTDAQRRELEKHSLSRVICDNTGLTRVPMDAFQVGKFPEDFESCDSITGMNLEAWRETFPQDDKCGFPESVENGDFVHCEESGRRVLVYSCRHGYELQGREQLTCTQEGWDFQPPLCKDSGRLPRVTWISMSLAALLIGGFAGLTSTVICRWTRTGTKSTLPISETGGGTPELRCGKHQAVGTSPQRAAAQDSEQVGHTMPHVSSCHRSGWTGSGCRSSSAGAPCIFLFTPCFLVRSAPSSGRFYLQANDSEPECEPA", "length": 864, "header": "tr|H0Y6H4-1|H0Y6H4_HUMAN Computationally mapped isoform of Thyroid peroxidase OS=Homo sapiens OX=9606 GN=TPO PE=1 SV=1 CANONICAL=P07202-1" }, "locus": { "chromosome": "2", "start_pos": 1540912, "end_pos": 1433472, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000422464.5", "url": "https://www.ensembl.org/id/ENST00000422464.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000405788.1", "url": "https://www.ensembl.org/id/ENSP00000405788.1" } ] } }, { "isoform_ac": "H7C1F5-1", "url": "", "sequence": { "sequence": "XYEGYDSTANPTVSNVFSTAAFRFGHATIHPLVRRLDASFQEHPDLPGLWLHQAFFSPWTLLRGGYNEWREFCGLPRLETPADLSTAIASRSVADKILDLYKHPDNIDVWLGGLAENFLPRARTGPLFACLIGKQMKALRDGDWFWWENSHVFTDAQRRELEKHSLSRVICDNTGLTRVPMDAFQVGKFPEDFESCDSITGMNLEAWRETFPQDDKCGFPESVENGDFVHCEESGRRVLVYSCRHGYELQGREQLTCTQEGWDFQPPLCKDVNECADGAHPPCHASARCRNTKGGFQCLCADPYELGDDGRTCVDSGRLPRVTWISMSLAALLIGGFAGLTSTVICRWRVLGWKAGILTGCREPSEGKVAGHCRTASCSQNHRTTLFQTQANPKSAGRLFSQHG", "length": 404, "header": "tr|H7C1F5-1|H7C1F5_HUMAN Computationally mapped isoform of Thyroid peroxidase OS=Homo sapiens OX=9606 GN=TPO PE=1 SV=1 CANONICAL=P07202-1" }, "locus": { "chromosome": "2", "start_pos": 1542590, "end_pos": 1484663, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000446278.5", "url": "https://www.ensembl.org/id/ENST00000446278.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000400033.1", "url": "https://www.ensembl.org/id/ENSP00000400033.1" } ] } }, { "isoform_ac": "H7C5B6-1", "url": "", "sequence": { "sequence": "YEGYDSTANPTVSNVFSTAAFRFGHATIHPLVRRLDASFQEHPDLPGLWLHQAFFSPWTLLRGGYNEWREFCGLPRLETPADLSTAIASRSVADKILDLYKHPDNIDVWLGGLAENFLPRARTGPLFACLIGKQMKALRDGDWFWWENSHVFTDAQRRELEKHSLSRVICDNTGLTRVPMDAFQVGKFPEDFESCDSITGMNLEAWRETFPQDDKCGFPESVENGDFVHCEESGRRVLVYSCRHGYELQGREQLTCTQEGWDFQPPLCKDSGRLPRVTWISMSLAALLIGGFAGLTSTVICRWTRTGTKSTLPISETGGGTPELRCGKHQAVGTSPQRAAAQDSEQESAGMEGRDTHRLPRAL", "length": 363, "header": "tr|H7C5B6-1|PERT_HUMAN Computationally mapped isoform of Thyroid peroxidase OS=Homo sapiens OX=9606 GN=TPO PE=1 SV=1 CANONICAL=P07202-1" }, "locus": { "chromosome": "2", "start_pos": 1542471, "end_pos": 1484665, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000469607.3", "url": "https://www.ensembl.org/id/ENST00000469607.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000419461.1", "url": "https://www.ensembl.org/id/ENSP00000419461.1" } ] } }, { "isoform_ac": "P07202-1", "url": "", "sequence": { "sequence": "MRALAVLSVTLVMACTEAFFPFISRGKELLWGKPEESRVSSVLEESKRLVDTAMYATMQRNLKKRGILSPAQLLSFSKLPEPTSGVIARAAEIMETSIQAMKRKVNLKTQQSQHPTDALSEDLLSIIANMSGCLPYMLPPKCPNTCLANKYRPITGACNNRDHPRWGASNTALARWLPPVYEDGFSQPRGWNPGFLYNGFPLPPVREVTRHVIQVSNEVVTDDDRYSDLLMAWGQYIDHDIAFTPQSTSKAAFGGGADCQMTCENQNPCFPIQLPEEARPAAGTACLPFYRSSAACGTGDQGALFGNLSTANPRQQMNGLTSFLDASTVYGSSPALERQLRNWTSAEGLLRVHARLRDSGRAYLPFVPPRAPAACAPEPGIPGETRGPCFLAGDGRASEVPSLTALHTLWLREHNRLAAALKALNAHWSADAVYQEARKVVGALHQIITLRDYIPRILGPEAFQQYVGPYEGYDSTANPTVSNVFSTAAFRFGHATIHPLVRRLDASFQEHPDLPGLWLHQAFFSPWTLLRGGGLDPLIRGLLARPAKLQVQDQLMNEELTERLFVLSNSSTLDLASINLQRGRDHGLPGYNEWREFCGLPRLETPADLSTAIASRSVADKILDLYKHPDNIDVWLGGLAENFLPRARTGPLFACLIGKQMKALRDGDWFWWENSHVFTDAQRRELEKHSLSRVICDNTGLTRVPMDAFQVGKFPEDFESCDSITGMNLEAWRETFPQDDKCGFPESVENGDFVHCEESGRRVLVYSCRHGYELQGREQLTCTQEGWDFQPPLCKDVNECADGAHPPCHASARCRNTKGGFQCLCADPYELGDDGRTCVDSGRLPRVTWISMSLAALLIGGFAGLTSTVICRWTRTGTKSTLPISETGGGTPELRCGKHQAVGTSPQRAAAQDSEQESAGMEGRDTHRLPRAL", "length": 933, "header": "sp|P07202-1|PERT_HUMAN Isoform 1 of Thyroid peroxidase OS=Homo sapiens OX=9606 GN=TPO PE=1 SV=4 CANONICAL=P07202-1" }, "locus": { "chromosome": "2", "start_pos": 1542471, "end_pos": 1414409, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000329066.9", "url": "https://www.ensembl.org/id/ENST00000329066.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000329869.4", "url": "https://www.ensembl.org/id/ENSP00000329869.4" } ] } }, { "isoform_ac": "P07202-2", "url": "", "sequence": { "sequence": "MRALAVLSVTLVMACTEAFFPFISRGKELLWGKPEESRVSSVLEESKRLVDTAMYATMQRNLKKRGILSPAQLLSFSKLPEPTSGVIARAAEIMETSIQAMKRKVNLKTQQSQHPTDALSEDLLSIIANMSGCLPYMLPPKCPNTCLANKYRPITGACNNRDHPRWGASNTALARWLPPVYEDGFSQPRGWNPGFLYNGFPLPPVREVTRHVIQVSNEVVTDDDRYSDLLMAWGQYIDHDIAFTPQSTSKAAFGGGADCQMTCENQNPCFPIQLPEEARPAAGTACLPFYRSSAACGTGDQGALFGNLSTANPRQQMNGLTSFLDASTVYGSSPALERQLRNWTSAEGLLRVHARLRDSGRAYLPFVPPRAPAACAPEPGIPGETRGPCFLAGDGRASEVPSLTALHTLWLREHNRLAAALKALNAHWSADAVYQEARKVVGALHQIITLRDYIPRILGPEAFQQYVGPYEGYDSTANPTVSNVFSTAAFRFGHATIHPLVRRLDASFQEHPDLPGLWLHQAFFSPWTLLRGGYNEWREFCGLPRLETPADLSTAIASRSVADKILDLYKHPDNIDVWLGGLAENFLPRARTGPLFACLIGKQMKALRDGDWFWWENSHVFTDAQRRELEKHSLSRVICDNTGLTRVPMDAFQVGKFPEDFESCDSITGMNLEAWRETFPQDDKCGFPESVENGDFVHCEESGRRVLVYSCRHGYELQGREQLTCTQEGWDFQPPLCKDVNECADGAHPPCHASARCRNTKGGFQCLCADPYELGDDGRTCVDSGRLPRVTWISMSLAALLIGGFAGLTSTVICRWTRTGTKSTLPISETGGGTPELRCGKHQAVGTSPQRAAAQDSEQESAGMEGRDTHRLPRAL", "length": 876, "header": "sp|P07202-2|PERT_HUMAN Isoform 2 of Thyroid peroxidase OS=Homo sapiens OX=9606 GN=TPO PE=1 SV=4 CANONICAL=P07202-1" }, "locus": { "chromosome": "2", "start_pos": 1542471, "end_pos": 1414409, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000382201.7", "url": "https://www.ensembl.org/id/ENST00000382201.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000371636.3", "url": "https://www.ensembl.org/id/ENSP00000371636.3" } ] } }, { "isoform_ac": "P07202-3", "url": "", "sequence": { "sequence": "MRALAVLSVTLVMACTEAFFPFISRGKELLWGKPEESRVSSVLEESKRLVDTAMYATMQRNLKKRGILSPAQLLSFSKLPEPTSGVIARAAEIMETSIQAMKRKVNLKTQQSQHPTDALSEDLLSIIANMSGCLPYMLPPKCPNTCLANKYRPITGACNNRDHPRWGASNTALARWLPPVYEDGFSQPRGWNPGFLYNGFPLPPVREVTRHVIQVSNEVVTDDDRYSDLLMAWGQYIDHDIAFTPQSTSKAAFGGGADCQMTCENQNPCFPIQLPEEARPAAGTACLPFYRSSAACGTGDQGALFGNLSTANPRQQMNGLTSFLDASTVYGSSPALERQLRNWTSAEGLLRVHARLRDSGRAYLPFVPPRAPAACAPEPGIPGETRGPCFLAGDGRASEVPSLTALHTLWLREHNRLAAALKALNAHWSADAVYQEARKVVGALHQIITLRDYIPRILGPEAFQQYVGPYEGYDSTANPTVSNVFSTAAFRFGHATIHPLVRRLDASFQEHPDLPGLWLHQAFFSPWTLLRGGGLDPLIRGLLARPAKLQVQDQLMNEELTERLFVLSNSSTLDLASINLQRGRDHGLPGYNEWREFCGLPRLETPADLSTAIASRSVADKILDLYKHPDNIDVWLGGLAENFLPRARTGPLFACLIGKQMKALRDGDWFWWENSHVFTDAQRRELEKHSLSRVICDNTGLTRVPMDAFQVGKFPEDFESCDSITGMNLEAWRETFPQDDKCGFPESVENGDFVHCEESGRRVLVYSCRHGYELQGREQLTCTQEGWDFQPPLCKDVNECADGAHPPCHASARCRNTKGGFQCLCADPYELGDDGRTCVDSGRLPRVTWISMSLAALLIGGFAGLTSTVICRWRVLGWKAGILTGCREPSEGKVAGHCRTASCSQNHRTTLFQTQANRKSAGRLFSQHG", "length": 929, "header": "sp|P07202-3|PERT_HUMAN Isoform 3 of Thyroid peroxidase OS=Homo sapiens OX=9606 GN=TPO PE=1 SV=4 CANONICAL=P07202-1" }, "locus": {} }, { "isoform_ac": "P07202-4", "url": "", "sequence": { "sequence": "MRALAVLSVTLVMACTEAFFPFISRGKELLWGKPEESRVSSVLEESKRLVDTAMYATMQRNLKKRGILSPAQLLSFSKLPEPTSGVIARAAEIMETSIQAMKRKVNLKTQQSQHPTDALSEDLLSIIANMSGCLPYMLPPKCPNTCLANKYRPITGACNNRDHPRWGASNTALARWLPPVYEDGFSQPRGWNPGFLYNGFPLPPVREVTRHVIQVSNEVVTDDDRYSDLLMAWGQYIDHDIAFTPQSTSKAAFGGGADCQMTCENQNPCFPIQLPEEARPAAGTACLPFYRSSAACGTGDQGALFGNLSTANPRQQMNGLTSFLDASTVYGSSPALERQLRNWTSAEGLLRVHARLRDSGRAYLPFVPPRAPAACAPEPGIPGETRGPCFLAGDGRASEVPSLTALHTLWLREHNRLAAALKALNAHWSADAVYQEARKVVGALHQIITLRDYIPRILGPEAFQQYVGPYEGYDSTANPTVSNVFSTAAFRFGHATIHPLVRRLDASFQEHPDLPGLWLHQAFFSPWTLLRGGGLDPLIRGLLARPAKLQVQDQLMNEELTERLFVLSNSSTLDLASINLQRGRDHGLPGYNEWREFCGLPRLETPADLSTAIASRSVADKILDLYKHPDNIDVWLGGLAENFLPRARTGPLFACLIGKQMKALRDGDWFWWENSHVFTDAQRRELEKHSLSRVICDNTGLTRVPMDAFQVGKFPEDFESCDSITGMNLEAWRETFPQDDKCGFPESVENGDFVHCEESGRRVLVYSCRHGYELQGREQLTCTQEGWDFQPPLCKDSGRLPRVTWISMSLAALLIGGFAGLTSTVICRWTRTGTKSTLPISETGGGTPELRCGKHQAVGTSPQRAAAQDSEQESAGMEGRDTHRLPRAL", "length": 889, "header": "sp|P07202-4|PERT_HUMAN Isoform 4 of Thyroid peroxidase OS=Homo sapiens OX=9606 GN=TPO PE=1 SV=4 CANONICAL=P07202-1" }, "locus": { "chromosome": "2", "start_pos": 1542471, "end_pos": 1414409, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000346956.7", "url": "https://www.ensembl.org/id/ENST00000346956.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000263886.6", "url": "https://www.ensembl.org/id/ENSP00000263886.6" } ] } }, { "isoform_ac": "P07202-5", "url": "", "sequence": { "sequence": "MRALAVLSVTLVMACTEAFFPFISRGKELLWGKPEESRVSSVLEESKRLVDTAMYATMQRNLKKRGILSPAQLLSFSKLPEPTSGVIARAAEIMETSIQAMKRKVNLKTQQSQHPTDALSEDLLSIIANMSGCLPYMLPPKCPNTCLANKYRPITGACNNRDHPRWGASNTALARWLPPVYEDGFSQPRGWNPGFLYNGFPLPPVREVTRHVIQVSNEVVTDDDRYSDLLMAWGQYIDHDIAFTPQSTSKAAFGGGADCQMTCENQNPCFPIQIITLRDYIPRILGPEAFQQYVGPYEGYDSTANPTVSNVFSTAAFRFGHATIHPLVRRLDASFQEHPDLPGLWLHQAFFSPWTLLRGGGLDPLIRGLLARPAKLQVQDQLMNEELTERLFVLSNSSTLDLASINLQRGRDHGLPGYNEWREFCGLPRLETPADLSTAIASRSVADKILDLYKHPDNIDVWLGGLAENFLPRARTGPLFACLIGKQMKALRDGDWFWWENSHVFTDAQRRELEKHSLSRVICDNTGLTRVPMDAFQVGKFPEDFESCDSITGMNLEAWRETFPQDDKCGFPESVENGDFVHCEESGRRVLVYSCRHGYELQGREQLTCTQEGWDFQPPLCKDVNECADGAHPPCHASARCRNTKGGFQCLCADPYELGDDGRTCVDSGRLPRVTWISMSLAALLIGGFAGLTSTVICRWTRTGTKSTLPISETGGGTPELRCGKHQAVGTSPQRAAAQDSEQESAGMEGRDTHRLPRAL", "length": 760, "header": "sp|P07202-5|PERT_HUMAN Isoform 5 of Thyroid peroxidase OS=Homo sapiens OX=9606 GN=TPO PE=1 SV=4 CANONICAL=P07202-1" }, "locus": { "chromosome": "2", "start_pos": 1542471, "end_pos": 1414409, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000382198.5", "url": "https://www.ensembl.org/id/ENST00000382198.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000371633.1", "url": "https://www.ensembl.org/id/ENSP00000371633.1" } ] } }, { "isoform_ac": "P07202-6", "url": "", "sequence": { "sequence": "MRALAVLSVTLVMACTEAFFPFISRGKELLWGKPEESRVSSVLEESKRLVDTAMYATMQRNLKKRGILSPAQLLSFSKLPEPTSGVIARAAEIMETSIQAMKRKVNLKTQQSQHPTDALSEDLLSIIANMSGCLPYMLPPKCPNTCLANKYRPITGACNNRDHPRWGASNTALARWLPPVYEDGFSQPRGWNPGFLYNGFPLPPVREVTRHVIQVSNEVVTDDDRYSDLLMAWGQYIDHDIAFTPQSTSKAAFGGGADCQMTCENQNPCFPIQLPEEARPAAGTACLPFYRSSAACGTGDQGALFGNLSTANPRQQMNGLTSFLDASTVYGSSPALERQLRNWTSAEGLLRVHARLRDSGRAYLPFVPPRAPAACAPEPGIPGETRGPCFLAGDGRASEVPSLTALHTLWLREHNRLAAALKALNAHWSADAVYQEARKVVGALHQIITLRDYIPRILGPEAFQQYVGPYEGYDSTANPTVSNVFSTAAFRFGHATIHPLVRRLDASFQEHPDLPGLWLHQAFFSPWTLLRGGYNEWREFCGLPRLETPADLSTAIASRSVADKILDLYKHPDNIDVWLGGLAENFLPRARTGPLFACLIGKQMKALRDGD", "length": 611, "header": "sp|P07202-6|PERT_HUMAN Isoform 6 of Thyroid peroxidase OS=Homo sapiens OX=9606 GN=TPO PE=1 SV=4 CANONICAL=P07202-1" }, "locus": {} }, { "isoform_ac": "P07202-7", "url": "", "sequence": { "sequence": 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CANONICAL=P07202-1" }, "locus": {} }, { "isoform_ac": "P07202-8", "url": "", "sequence": { "sequence": "MRALAVLSVTLVMACTEAFFPFISRGKELLWGKPEESRVSSVLEESKRLVDTAMYATMQRNLKKRGILSPAQLLSFSKLPEPTSGVIARAAEIMETSIQAMKRKVNLKTQQSQHPTDALSEDLLSIIANMSGCLPYMLPPKCPNTCLANKYRPITGACNNRDHPRWGASNTALARWLPPVYEDGFSQPRGWNPGFLYNGFPLPPVREVTRHVIQVSNEVVTDDDRYSDLLMAWGQYIDHDIAFTPQSTSKAAFGGGADCQMTCENQNPCFPIQLPEEARPAAGTACLPFYRSSAACGTGDQGALFGNLSTANPRQQMNGLTSFLDASTVYGSSPALERQLRNWTSAEGLLRVHARLRDSGRAYLPFVPPRAPAACAPEPGIPGETRGPCFLAGDGRASEVPSLTALHTLWLREHNRLAAALKALNAHWSADAVYQEARKVVGALHQIITLRDYIPRILGPEAFQQYVGPYEGYDSTANPTVSNVFSTAAFRFGHATIHPLVRRLDASFQEHPDLPGLWLHQAFFSPWTLLRGGYNEWREFCGLPRLETPADLSTAIASRSVADKILDLYKHPDNIDVWLGGLAENFLPRARTGPLFACLIGKQMKALRDGDWFWWENSHVFTDAQRRELEKHSLSRVICDNTGLTRVPMDAFQVGKFPEDFESCDSITGMNLEAWRETFPQDDKCGFPESVENGDFVHCEESGRRVLVYSCRHGYELQGREQLTCTQEGWDFQPPLCKDSGRLPRVTWISMSLAALLIGGFAGLTSTVICRWTRTGTKSTLPISETGGGTPELRCGKHQAVGTSPQRAAAQDSEQESAGMEGRDTHRLPRAL", "length": 832, "header": "sp|P07202-8|PERT_HUMAN Isoform 8 of Thyroid peroxidase OS=Homo sapiens OX=9606 GN=TPO PE=1 SV=4 CANONICAL=P07202-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 129, "start_aa": "Asn", "end_pos": 129, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn129", "evidence": [ { "id": "P07202", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07202#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 307, "start_aa": "Asn", "end_pos": 307, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn307", "evidence": [ { "id": "P07202", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07202#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 342, "start_aa": "Asn", "end_pos": 342, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn342", "evidence": [ { "id": "P07202", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07202#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 569, "start_aa": "Asn", "end_pos": 569, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn569", "evidence": [ { "id": "P07202", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07202#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P07202", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07202" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1999", "authors": "Pannain S, Weiss RE, Jackson CE, Dian D, Beck JC, Sheffield VC, Cox N, Refetoff S", "evidence": [ { "database": "UniProtKB", "id": "P07202", "url": "https://www.uniprot.org/uniprot/P07202" } ], "reference": [ { "type": "PubMed", "id": "10084596", "url": "https://glygen.org/publication/PubMed/10084596" } ] }, { "title": "A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect.", "journal": "Clinical endocrinology", "date": "1999", "authors": "Santos CL, Bikker H, Rego KG, Nascimento AC, Tambascia M, De Vijlder JJ, Medeiros-Neto G", "evidence": [ { "database": "UniProtKB", "id": "P07202", "url": "https://www.uniprot.org/uniprot/P07202" } ], "reference": [ { "type": "PubMed", "id": "10468986", "url": "https://glygen.org/publication/PubMed/10468986" } ] }, { "title": "Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update).", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2000", "authors": "Bakker B, Bikker H, Vulsma T, de Randamie JS, Wiedijk BM, De Vijlder JJ", "evidence": [ { "database": "UniProtKB", "id": "P07202", "url": "https://www.uniprot.org/uniprot/P07202" } ], "reference": [ { "type": "PubMed", "id": "11061528", "url": "https://glygen.org/publication/PubMed/11061528" } ] }, { "title": "Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism.", "journal": "European journal of endocrinology", "date": "2001", "authors": "Ambrugger P, Stoeva I, Biebermann H, Torresani T, Leitner C, Gruters A", "evidence": [ { "database": "UniProtKB", "id": "P07202", "url": "https://www.uniprot.org/uniprot/P07202" } ], "reference": [ { "type": "PubMed", "id": "11415848", "url": "https://glygen.org/publication/PubMed/11415848" } ] }, { "title": "Tyrosine cross-linking of extracellular matrix is catalyzed by Duox, a multidomain oxidase/peroxidase with homology to the phagocyte oxidase subunit gp91phox.", "journal": "The Journal of cell biology", "date": "2001", "authors": "Edens WA, Sharling L, Cheng G, Shapira R, Kinkade JM, Lee T, Edens HA, Tang X, Sullards C, Flaherty DB, Benian GM, Lambeth JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-209968", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209968" } ], "reference": [ { "type": "PubMed", "id": "11514595", "url": "https://glygen.org/publication/PubMed/11514595" } ] }, { "title": "Mutation analysis of thyroid peroxidase gene in Chinese patients with total iodide organification defect: identification of five novel mutations.", "journal": "The Journal of endocrinology", "date": "2002", "authors": "Wu JY, Shu SG, Yang CF, Lee CC, Tsai FJ", "evidence": [ { "database": "UniProtKB", "id": "P07202", "url": "https://www.uniprot.org/uniprot/P07202" } ], "reference": [ { "type": "PubMed", "id": "11874711", "url": "https://glygen.org/publication/PubMed/11874711" } ] }, { "title": "Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism.", "journal": "European journal of endocrinology", "date": "2002", "authors": "Umeki K, Kotani T, Kawano J, Suganuma T, Yamamoto I, Aratake Y, Furujo M, Ichiba Y", "evidence": [ { "database": "UniProtKB", "id": "P07202", "url": "https://www.uniprot.org/uniprot/P07202" } ], "reference": [ { "type": "PubMed", "id": "11916616", "url": "https://glygen.org/publication/PubMed/11916616" } ] }, { "title": "High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2002", "authors": "Niu DM, Hwang B, Chu YK, Liao CJ, Wang PL, Lin CY", "evidence": [ { "database": "UniProtKB", "id": "P07202", "url": "https://www.uniprot.org/uniprot/P07202" } ], "reference": [ { "type": "PubMed", "id": "12213873", "url": "https://glygen.org/publication/PubMed/12213873" } ] }, { "title": "Increasing diversity of human thyroperoxidase generated by alternative splicing. Characterization by molecular cloning of new transcripts with single- and multispliced mRNAs.", "journal": "J. Biol. Chem.", "date": "2003", "authors": "Ferrand M, Le Fourn V, Franc JL", "evidence": [ { "database": "UniProtKB", "id": "P07202", "url": "https://www.uniprot.org/uniprot/P07202" }, { "database": "RefSeq", "id": "NP_000538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000538" } ], "reference": [ { "type": "PubMed", "id": "12454013", "url": "https://glygen.org/publication/PubMed/12454013" } ] }, { "title": "Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach.", "journal": "Thyroid : official journal of the American Thyroid Association", "date": "2002", "authors": "Calaciura F, Miscio G, Coco A, Leonardi D, Cisternino C, Regalbuto C, Bozzali M, Maiorana R, Ranieri A, Carta A, Buscema M, Trischitta V, Sava L, Tassi V", "evidence": [ { "database": "UniProtKB", "id": "P07202", "url": "https://www.uniprot.org/uniprot/P07202" } ], "reference": [ { "type": "PubMed", "id": "12490071", "url": "https://glygen.org/publication/PubMed/12490071" } ] }, { "title": "Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2003", "authors": "Fugazzola L, Cerutti N, Mannavola D, Vannucchi G, Fallini C, Persani L, Beck-Peccoz P", "evidence": [ { "database": "UniProtKB", "id": "P07202", "url": "https://www.uniprot.org/uniprot/P07202" } ], "reference": [ { "type": "PubMed", "id": "12843174", "url": "https://glygen.org/publication/PubMed/12843174" } ] }, { "title": "Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings.", "journal": "Clinical endocrinology", "date": "2003", "authors": "Kotani T, Umeki K, Kawano J, Suganuma T, Hishinuma A, Ieiri T, Harada S", "evidence": [ { "database": "UniProtKB", "id": "P07202", "url": "https://www.uniprot.org/uniprot/P07202" } ], "reference": [ { "type": "PubMed", "id": "12864797", "url": "https://glygen.org/publication/PubMed/12864797" } ] }, { "title": "Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.", "journal": "Human mutation", "date": "2003", "authors": "Rivolta CM, Esperante SA, Gruneiro-Papendieck L, Chiesa A, Moya CM, Domene S, Varela V, Targovnik HM", "evidence": [ { "database": "UniProtKB", "id": "P07202", "url": "https://www.uniprot.org/uniprot/P07202" } ], "reference": [ { "type": "PubMed", "id": "12938097", "url": "https://glygen.org/publication/PubMed/12938097" } ] }, { "title": "Identification of a novel partner of duox: EFP1, a thioredoxin-related protein.", "journal": "J. Biol. Chem.", "date": "2005", "authors": "Wang D, De Deken X, Milenkovic M, Song Y, Pirson I, Dumont JE, Miot F", "evidence": [ { "database": "UniProtKB", "id": "P07202", "url": "https://www.uniprot.org/uniprot/P07202" } ], "reference": [ { "type": "PubMed", "id": "15561711", "url": "https://glygen.org/publication/PubMed/15561711" } ] }, { "title": "Dual oxidase-2 has an intrinsic Ca2+-dependent H2O2-generating activity.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Ameziane-El-Hassani R, Morand S, Boucher JL, Frapart YM, Apostolou D, Agnandji D, Gnidehou S, Ohayon R, Noel-Hudson MS, Francon J, Lalaoui K, Virion A, Dupuy C", "evidence": [ { "database": "Reactome", "id": "R-HSA-209968", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209968" } ], "reference": [ { "type": "PubMed", "id": "15972824", "url": "https://glygen.org/publication/PubMed/15972824" } ] }, { "title": "Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.", "journal": "Endocrine journal", "date": "2005", "authors": "Tajima T, Tsubaki J, Fujieda K", "evidence": [ { "database": "UniProtKB", "id": "P07202", "url": "https://www.uniprot.org/uniprot/P07202" } ], "reference": [ { "type": "PubMed", "id": "16284446", "url": "https://glygen.org/publication/PubMed/16284446" } ] }, { "title": "Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2006", "authors": "Pfarr N, Borck G, Turk A, Napiontek U, Keilmann A, Muller-Forell W, Kopp P, Pohlenz J", "evidence": [ { "database": "UniProtKB", "id": "P07202", "url": "https://www.uniprot.org/uniprot/P07202" } ], "reference": [ { "type": "PubMed", "id": "16684826", "url": "https://glygen.org/publication/PubMed/16684826" } ] }, { "title": "Cloning and characterization of a novel isoform of iodotyrosine dehalogenase 1 (DEHAL1) DEHAL1C from human thyroid: comparisons with DEHAL1 and DEHAL1B.", "journal": "Thyroid : official journal of the American Thyroid Association", "date": "2006", "authors": "Gnidehou S, Lacroix L, Sezan A, Ohayon R, Noel-Hudson MS, Morand S, Francon J, Courtin F, Virion A, Dupuy C", "evidence": [ { "database": "Reactome", "id": "R-HSA-209968", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209968" } ], "reference": [ { "type": "PubMed", "id": "16910871", "url": "https://glygen.org/publication/PubMed/16910871" } ] }, { "title": "Formation of molecular iodine during oxidation of iodide by the peroxidase/H2O2 system. Implications for antithyroid therapy.", "journal": "Biochemical pharmacology", "date": "1991", "authors": "Lagorce JF, Thomes JC, Catanzano G, Buxeraud J, Raby M, Raby C", "evidence": [ { "database": "Reactome", "id": "R-HSA-209968", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209968" } ], "reference": [ { "type": "PubMed", "id": "1722671", "url": "https://glygen.org/publication/PubMed/1722671" } ] }, { "title": "Nucleotide sequence of the alternatively spliced human thyroid peroxidase cDNA, TPO-2.", "journal": "Nucleic Acids Res.", "date": "1990", "authors": "Barnett P S, Banga J P, Watkins J, Huang G C, Gluckman D R, Page M J, McGregor A M", "evidence": [ { "database": "UniProtKB", "id": "P07202", "url": "https://www.uniprot.org/uniprot/P07202" } ], "reference": [ { "type": "PubMed", "id": "2308857", "url": "https://glygen.org/publication/PubMed/2308857" } ] }, { "title": "Evidence for an alternate splicing in the thyroperoxidase messenger from patients with Graves' disease.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1990", "authors": "Zanelli E, Henry M, Charvet B, Malthi\u00e8ry Y", "evidence": [ { "database": "UniProtKB", "id": "P07202", "url": "https://www.uniprot.org/uniprot/P07202" } ], "reference": [ { "type": "PubMed", "id": "2383265", "url": "https://glygen.org/publication/PubMed/2383265" } ] }, { "title": "Structure of the human thyroid peroxidase gene: comparison and relationship to the human myeloperoxidase gene.", "journal": "Biochemistry", "date": "1989", "authors": "Kimura S, Hong YS, Kotani T, Ohtaki S, Kikkawa F", "evidence": [ { "database": "UniProtKB", "id": "P07202", "url": "https://www.uniprot.org/uniprot/P07202" } ], "reference": [ { "type": "PubMed", "id": "2548579", "url": "https://glygen.org/publication/PubMed/2548579" } ] }, { "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": "P07202", "url": "https://www.uniprot.org/uniprot/P07202" } ], "reference": [ { "type": "PubMed", "id": "27305979", "url": "https://glygen.org/publication/PubMed/27305979" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07202", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07202" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Complete nucleotide sequence of the human thyroperoxidase-microsomal antigen cDNA.", "journal": "Nucleic Acids Res.", "date": "1987", "authors": "Libert F, Ruel J, Ludgate M, Swillens S, Alexander N, Vassart G, Dinsart C", "evidence": [ { "database": "UniProtKB", "id": "P07202", "url": "https://www.uniprot.org/uniprot/P07202" } ], "reference": [ { "type": "PubMed", "id": "3453124", "url": "https://glygen.org/publication/PubMed/3453124" } ] }, { "title": "Human thyroid peroxidase: complete cDNA and protein sequence, chromosome mapping, and identification of two alternately spliced mRNAs.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1987", "authors": "Kimura S, Kotani T, McBride OW, Umeki K, Hirai K, Nakayama T, Ohtaki S", "evidence": [ { "database": "UniProtKB", "id": "P07202", "url": "https://www.uniprot.org/uniprot/P07202" } ], "reference": [ { "type": "PubMed", "id": "3475693", "url": "https://glygen.org/publication/PubMed/3475693" } ] }, { "title": "Isolation of a complementary DNA clone for thyroid microsomal antigen. Homology with the gene for thyroid peroxidase.", "journal": "J. Clin. Invest.", "date": "1987", "authors": "Seto P, Hirayu H, Magnusson R P, Gestautas J, Portmann L, DeGroot L J, Rapoport B", "evidence": [ { "database": "UniProtKB", "id": "P07202", "url": "https://www.uniprot.org/uniprot/P07202" } ], "reference": [ { "type": "PubMed", "id": "3654979", "url": "https://glygen.org/publication/PubMed/3654979" } ] }, { "title": "Longitudinal Associations Between TPO Gene Variants and Thyroid Peroxidase Antibody Seroconversion in a Population-Based Study: Tehran Thyroid Study.", "journal": "Genetic testing and molecular biomarkers", "date": "2023-03", "authors": "Ghanooni Amir Hossein, Zadeh-Vakili Azita, Rezvankhah Boshra, Jafari Nodushan Somayeh, Akbarzadeh Mahdi, Amouzegar Atieh, Daneshpour Maryam S, Khalili Davood, Mehrabi Yadollah, Ebadi Seyed Alireza, Azizi Fereidoun", "evidence": [ { "database": "RefSeq", "id": "NP_000538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000538" } ], "reference": [ { "type": "PubMed", "id": "36989526", "url": "https://glygen.org/publication/PubMed/36989526" } ] }, { "title": "TPO as an indicator of lymph node metastasis and recurrence in papillary thyroid carcinoma.", "journal": "Scientific reports", "date": "2023-07-05", "authors": "Li Xiang, Cheng Ruochuan", "evidence": [ { "database": "RefSeq", "id": "NP_000538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000538" } ], "reference": [ { "type": "PubMed", "id": "37407700", "url": "https://glygen.org/publication/PubMed/37407700" } ] }, { "title": "Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma.", "journal": "The Yale journal of biology and medicine", "date": "2023-09", "authors": "Naqvi Syeda Farwa, Y\u0131ld\u0131z-B\u00f6l\u00fckba\u015f\u0131 Esra, Afzal Muhammad, Nalbant G\u00f6khan, Mumtaz Sara, Tolun Asl\u0131han, Malik Sajid", 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"end_pos": 571, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "23336", "name": "", "equation": "2 H(+) + H2O2 + 2 iodide = diiodine + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P14650-1", "P07202-1", "P35419-1" ], "evidence": [ { "id": "23336", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/23336" } ] }, { "id": "48956", "name": "", "equation": "[thyroglobulin]-L-tyrosine + H(+) + H2O2 + iodide = [thyroglobulin]-3-iodo-L-tyrosine + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P14650-1", "P07202-1", "P35419-1" ], "evidence": [ { "id": "48956", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/48956" } ] }, { "id": "48960", "name": "", "equation": "[thyroglobulin]-3-iodo-L-tyrosine + H(+) + H2O2 + iodide = [thyroglobulin]-3,5-diiodo-L-tyrosine + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P14650-1", "P07202-1", "P35419-1" ], "evidence": [ { "id": "48960", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/48960" } ] }, { "id": "48964", "name": "", "equation": "2 [thyroglobulin]-3,5-diiodo-L-tyrosine + H2O2 = [thyroglobulin]-dehydroalanine + [thyroglobulin]-L-thyroxine + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P14650-1", "P07202-1", "P35419-1" ], "evidence": [ { "id": "48964", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/48964" } ] }, { "id": "48968", "name": "", "equation": "[thyroglobulin]-3,5-diiodo-L-tyrosine + [thyroglobulin]-3-iodo-L-tyrosine + H2O2 = [thyroglobulin]-3,3',5-triiodo-L-thyronine + [thyroglobulin]-dehydroalanine + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P14650-1", "P07202-1", "P35419-1" ], "evidence": [ { "id": "48968", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/48968" } ] }, { "id": "R-HSA-209815", "name": "Tyrosine is monoiodinated", "equation": "", "summary": "Tyrosines can be iodinated in thyroglobulin to produce precursors for thyroid hormone synthesis.", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [ "R-ALL-622410" ], "enzyme_list": [ "P07202-1" ], "evidence": [ { "id": "R-HSA-209815", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209815" } ] }, { "id": "R-HSA-209840", "name": "Two DITs combine to form thyroxine", "equation": "", "summary": "Thyroxine (T4) can be formed by the combination of two diiodotyrosines. The hormone thyrotropin can stimulate the production of T3 and T4.", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [ "R-ALL-352326" ], "enzyme_list": [ "P07202-1" ], "evidence": [ { "id": "R-HSA-209840", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209840" } ] }, { "id": "R-HSA-209925", "name": "DIT and MIT combine to form triiodothyronine", "equation": "", "summary": "Mono- and di-iodinated tyrosine can combine to form tri-iodothyronine (T3). The hormone thyrotropin can stimulate the production of T3 and T4.", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [ "R-ALL-352331" ], "enzyme_list": [ "P07202-1" ], "evidence": [ { "id": "R-HSA-209925", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209925" } ] }, { "id": "R-HSA-209973", "name": "Tyrosine is diiodinated", "equation": "", "summary": "Tyrosines can be iodinated in thyroglobulin to produce precursors for thyroid hormone synthesis.", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [ "R-ALL-209818", "R-ALL-351627", "R-ALL-352030" ], "output_participant_list": [ "R-ALL-351628" ], "enzyme_list": [ "P07202-1" ], "evidence": [ { "id": "R-HSA-209973", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209973" } ] }, { "id": "R-HSA-350901", "name": "Iodide is organified", "equation": "", "summary": "The first step in the biogenesis of thyroid hormones is the oxidation of iodide (I-) by H2O2/peroxidase after being taken up by the thyroid gland. This event is known as organification.", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [ "R-ALL-351630" ], "enzyme_list": [ "P07202-1" ], "evidence": [ { "id": "R-HSA-350901", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-350901" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-209818", "participant_name": "I- [extracellular region]", "crossref": [ { "id": "C00708", "database": "COMPOUND", "url": "" }, { "id": "16382", "database": "ChEBI", "url": "" }, { "id": "HMDB0012238", "database": "HMDB Metabolite", "url": "" }, { "id": "C00708", "database": "COMPOUND", "url": "" }, { "id": "16382", "database": "ChEBI", "url": "" }, { "id": "HMDB0012238", "database": "HMDB Metabolite", "url": "" }, { "id": "C00708", "database": "COMPOUND", "url": "" }, { "id": "16382", "database": "ChEBI", "url": "" }, { "id": "HMDB0012238", "database": "HMDB Metabolite", "url": "" }, { "id": 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