{ "uniprot_canonical_ac": "P01270-1", "uniprot_ac": "P01270", "uniprot_id": "PTHY_HUMAN", "mass": { "chemical_mass": 12861.0, "monoisotopic_mass": 12861.0 }, "refseq": { "ac": "NP_000306", "name": "parathyroid hormone isoform 1 preproprotein", "summary": "This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000306" }, "gene_names": [ { "name": "PTH", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P01270", "id": "P01270" }, { "name": "FIH1; PTH1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000306", "id": "NP_000306" }, { "name": "PTH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000306", "id": "NP_000306" } ], "protein_names": [ { "name": "Parathyroid hormone", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P01270" }, { "name": "PTH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01270" }, { "name": "Parathormone", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01270" }, { "name": "Parathyrin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01270" }, { "name": "parathyroid hormone 1; parathyrin; parathormone; prepro-PTH; preproparathyroid hormone", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000306", "id": "NP_000306" }, { "name": "parathyroid hormone isoform 1 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000306", "id": "NP_000306" } ], "function": [ { "annotation": "PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion. Stimulates [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblastic cells.", "evidence": [ { "database": "UniProtKB", "id": "P01270", "url": "https://www.uniprot.org/uniprot/P01270#function" }, { "database": "PubMed", "id": "21076856", "url": "https://glygen.org/publication/PubMed/21076856" } ] }, { "annotation": "Role of Parathyroid Hormone and Parathyroid Hormone-Related Protein in Protein-Energy Malnutrition. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000306", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000306" }, { "database": "PubMed", "id": "37664938", "url": "https://glygen.org/publication/PubMed/37664938" } ] }, { "annotation": "Roles of PTH and FGF23 in kidney failure: a focus on nonclassical effects. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000306", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000306" }, { "database": "PubMed", "id": "36977891", "url": "https://glygen.org/publication/PubMed/36977891" } ] }, { "annotation": "The Relationship Between Atrial Fibrillation and Parathyroid Hormone in Heart Failure Outpatients. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000306", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000306" }, { "database": "PubMed", "id": "37815140", "url": "https://glygen.org/publication/PubMed/37815140" } ] }, { "annotation": "This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_000306", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000306" } ] }, { "annotation": "[MiR-301a-5p modulates parathyroid hormone secretion in secondary hyperparathyroidism possibly by regulating calcium-sensing receptor].", "evidence": [ { "database": "RefSeq", "id": "NP_000306", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000306" }, { "database": "PubMed", "id": "37712273", "url": "https://glygen.org/publication/PubMed/37712273" } ] } ], "disease": [ { "disease_id": "DOID:0111387", "recommended_name": { "id": "DOID:0111387", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111387", "name": "familial isolated hypoparathyroidism", "description": "A hypoparathyroidism that has_material_basis_in mutation in PTH on chromosome 6p24.2 or in the GCM2 gene on chromosome 11p15.3." }, "synonyms": [ { "id": "DOID:0111387", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111387", "name": "FIH", "description": "" }, { "id": "MONDO:0007796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007796", "name": "hypoparathyroidism, familial isolated 1", "description": "" }, { "id": "MONDO:0007796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007796", "name": "FIH", "description": "" }, { "id": "MONDO:0007796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007796", "name": "hypoparathyroidism, familial isolated", "description": "" }, { "id": "MONDO:0007796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007796", "name": "FIH1", "description": "" }, { "id": "MONDO:0007796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007796", "name": "hypoparathyroidism, familial isolated 1", "description": "" }, { "id": "MONDO:0007796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007796", "name": "hypoparathyroidism familial isolated", "description": "" }, { "id": "MONDO:0007796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007796", "name": "hypoparathyroidism, autosomal dominant", "description": "" }, { "id": "MONDO:0007796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007796", "name": "hypoparathyroidism, autosomal recessive", "description": "" }, { "id": "MIM:146200", "resource": "MIM", "url": "https://www.omim.org/entry/146200", "name": "Hypoparathyroidism, familial isolated, 1", "description": "Hypoparathyroidism, familial isolated, 1" } ], "evidence": [ { "id": "146200", "database": "MIM", "url": "https://www.omim.org/entry/146200" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 16, "end_pos": 16, "sequence_org": "A", "sequence_mut": "R", "comment": "Abolishes processing of the precursor; when associated with variant R-18.", "evidence": [ { "database": "UniProtKB", "id": "P01270", "url": "https://www.uniprot.org/uniprot/P01270" }, { "database": "PubMed", "id": "7829495", "url": "https://glygen.org/publication/PubMed/7829495" } ] }, { "start_pos": 51, "end_pos": 51, "sequence_org": "R", "sequence_mut": "A", "comment": "Reduced affinity for PTH1R.", "evidence": [ { "database": "UniProtKB", "id": "P01270", "url": "https://www.uniprot.org/uniprot/P01270" }, { "database": "PubMed", "id": "18375760", "url": "https://glygen.org/publication/PubMed/18375760" } ] }, { "start_pos": 54, "end_pos": 54, "sequence_org": "W", "sequence_mut": "A", "comment": "Strongly reduced affinity for PTH1R.", "evidence": [ { "database": "UniProtKB", "id": "P01270", "url": "https://www.uniprot.org/uniprot/P01270" }, { "database": "PubMed", "id": "18375760", "url": "https://glygen.org/publication/PubMed/18375760" } ] }, { "start_pos": 55, "end_pos": 55, "sequence_org": "L", "sequence_mut": "A", "comment": "Strongly reduced affinity for PTH1R.", "evidence": [ { "database": "UniProtKB", "id": "P01270", "url": "https://www.uniprot.org/uniprot/P01270" }, { "database": "PubMed", "id": "18375760", "url": "https://glygen.org/publication/PubMed/18375760" } ] }, { "start_pos": 58, "end_pos": 58, "sequence_org": "K", "sequence_mut": "A", "comment": "Reduced affinity for PTH1R.", "evidence": [ { "database": "UniProtKB", "id": "P01270", "url": "https://www.uniprot.org/uniprot/P01270" }, { "database": "PubMed", "id": "18375760", "url": "https://glygen.org/publication/PubMed/18375760" } ] }, { "start_pos": 59, "end_pos": 59, "sequence_org": "L", "sequence_mut": "A", "comment": "Strongly reduced affinity for PTH1R.", "evidence": [ { "database": "UniProtKB", "id": "P01270", "url": "https://www.uniprot.org/uniprot/P01270" }, { "database": "PubMed", "id": "18375760", "url": "https://glygen.org/publication/PubMed/18375760" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "36.49", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000152266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152266" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000152266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152266" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "46.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000152266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152266" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000152266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152266" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000152266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152266" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000152266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152266" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000152266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152266" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "35.95", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000152266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152266" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "30.01", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000152266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152266" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000152266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152266" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "32.8", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000152266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152266" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "20.81", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000152266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152266" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "24.31", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000152266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152266" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P01270", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01270" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P01270", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01270" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { 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"database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1ZWG", "url": "https://www.rcsb.org/structure/1ZWG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2L1X", "url": "https://www.rcsb.org/structure/2L1X", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3C4M", "url": "https://www.rcsb.org/structure/3C4M", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7VVK", "url": "https://www.rcsb.org/structure/7VVK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7VVL", "url": "https://www.rcsb.org/structure/7VVL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7VVM", "url": "https://www.rcsb.org/structure/7VVM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7VVN", "url": "https://www.rcsb.org/structure/7VVN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7VVO", "url": "https://www.rcsb.org/structure/7VVO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7Y36", "url": "https://www.rcsb.org/structure/7Y36", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8FLQ", "url": "https://www.rcsb.org/structure/8FLQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8HA0", "url": "https://www.rcsb.org/structure/8HA0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8HAO", "url": "https://www.rcsb.org/structure/8HAO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01279", "url": "http://pfam.xfam.org/family/PF01279", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P01270", "url": "https://pharos.nih.gov/targets/P01270", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P01270", "url": "http://purl.obolibrary.org/obo/PR_P01270", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080", "database": "Reactome", "categories": [ "Protein Classification" ] }, 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"MIPAKDMAKVMIVMLAICFLTKSDGKSVKKRSVSEIQLMHNLGKHLNSMERVEWLRKKLQDVHNFVALGAPLAPRDAGSQRPRKKEDNVLVESHEKSLGEADKADVNVLTKAKSQ", "length": 115, "header": "sp|P01270-1|PTHY_HUMAN Isoform 1 of Parathyroid hormone OS=Homo sapiens OX=9606 GN=PTH PE=1 SV=1 CANONICAL=P01270-1" }, "locus": { "chromosome": "11", "start_pos": 13492855, "end_pos": 13492408, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529816.1", "url": "https://www.ensembl.org/id/ENST00000529816.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000433208.1", "url": "https://www.ensembl.org/id/ENSP00000433208.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Biochemical characterization of Wnt-frizzled interactions using a soluble, biologically active vertebrate Wnt protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Hsieh JC, Rattner A, Smallwood PM, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "10097073", "url": "https://glygen.org/publication/PubMed/10097073" } ] }, { "title": "A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1999", "authors": "Sunthornthepvarakul T, Churesigaew S, Ngowngarmratana S", "evidence": [ { "database": "UniProtKB", "id": "P01270", "url": "https://www.uniprot.org/uniprot/P01270" } ], "reference": [ { "type": "PubMed", "id": "10523031", "url": "https://glygen.org/publication/PubMed/10523031" } ] }, { "title": "Solution structures of human parathyroid hormone fragments hPTH(1-34) and hPTH(1-39) and bovine parathyroid hormone fragment bPTH(1-37).", "journal": "Biochem. Biophys. Res. Commun.", "date": "2000", "authors": "Marx U C, Adermann K, Bayer P, Forssmann W G, R\u00f6sch P", "evidence": [ { "database": "UniProtKB", "id": "P01270", "url": "https://www.uniprot.org/uniprot/P01270" } ], "reference": [ { "type": "PubMed", "id": "10623601", "url": "https://glygen.org/publication/PubMed/10623601" } ] }, { "title": "Crystal structure of human parathyroid hormone 1-34 at 0.9-A resolution.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Jin L, Briggs S L, Chandrasekhar S, Chirgadze N Y, Clawson D K, Schevitz R W, Smiley D L, Tashjian A H, Zhang F", "evidence": [ { "database": "UniProtKB", "id": "P01270", "url": "https://www.uniprot.org/uniprot/P01270" } ], "reference": [ { "type": "PubMed", "id": "10837469", "url": "https://glygen.org/publication/PubMed/10837469" } ] }, { "title": "Src tyrosine kinase is a novel direct effector of G proteins.", "journal": "Cell", "date": "2000", "authors": "Ma YC, Huang J, Ali S, Lowry W, Huang XY", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "11007482", "url": "https://glygen.org/publication/PubMed/11007482" } ] }, { "title": "A reinvestigation of the amino-terminal sequence of human parathyroid hormone.", "journal": "Biochemistry", "date": "1975", "authors": "Keutmann H T, Niall H D, O'Riordan J L, Potts J T", "evidence": [ { "database": "UniProtKB", "id": "P01270", "url": "https://www.uniprot.org/uniprot/P01270" } ], "reference": [ { "type": "PubMed", "id": "1125201", "url": "https://glygen.org/publication/PubMed/1125201" } ] }, { "title": "Molecular analysis of the epidermal growth factor-like short consensus repeat domain-mediated protein-protein interactions: dissection of the CD97-CD55 complex.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Lin HH, Stacey M, Saxby C, Knott V, Chaudhry Y, Evans D, Gordon S, McKnight AJ, Handford P, Lea S", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "11297558", "url": "https://glygen.org/publication/PubMed/11297558" } ] }, { "title": "Selective inhibition of heterotrimeric Gs signaling. Targeting the receptor-G protein interface using a peptide minigene encoding the Galpha(s) carboxyl terminus.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Feldman DS, Zamah AM, Pierce KL, Miller WE, Kelly F, Rapacciuolo A, Rockman HA, Koch WJ, Luttrell LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "12036966", "url": "https://glygen.org/publication/PubMed/12036966" } ] }, { "title": "Mechanism of Galpha i-mediated inhibition of type V adenylyl cyclase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Dessauer CW, Chen-Goodspeed M, Chen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "12058044", "url": "https://glygen.org/publication/PubMed/12058044" } ] }, { "title": "Characterization of the human and mouse genes encoding the tuberoinfundibular peptide of 39 residues, a ligand of the parathyroid hormone receptor family.", "journal": "The Journal of endocrinology", "date": "2002", "authors": "Hansen IA, Jakob O, Wortmann S, Arzberger T, Allolio B, Blind E", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "12098667", "url": "https://glygen.org/publication/PubMed/12098667" } ] }, { "title": "Similarities and differences in the coupling of human beta1- and beta2-adrenoceptors to Gs(alpha) splice variants.", "journal": "Biochemical pharmacology", "date": "2002", "authors": "Wenzel-Seifert K, Liu HY, Seifert R", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "12106601", "url": "https://glygen.org/publication/PubMed/12106601" } ] }, { "title": "The pharmacology of cilostazol.", "journal": "Diabetes, obesity & metabolism", "date": "2002", "authors": "Schror K", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "12180353", "url": "https://glygen.org/publication/PubMed/12180353" } ] }, { "title": "Tuberoinfundibular peptide of 39 residues (TIP39): molecular structure and activity for parathyroid hormone 2 receptor.", "journal": "Neuropharmacology", "date": "2003", "authors": "Della Penna K, Kinose F, Sun H, Koblan KS, Wang H", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "12559132", "url": "https://glygen.org/publication/PubMed/12559132" } ] }, { "title": "Characterization of the 5-HT6 receptor coupled to Ca2+ signaling using an enabling chimeric G-protein.", "journal": "European journal of pharmacology", "date": "2003", "authors": "Zhang JY, Nawoschik S, Kowal D, Smith D, Spangler T, Ochalski R, Schechter L, Dunlop J", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "12860470", "url": "https://glygen.org/publication/PubMed/12860470" } ] }, { "title": "Fractionation and characterization of a cyclic adenine ribonucleotide formed by tissue particles.", "journal": "The Journal of biological chemistry", "date": "1958", "authors": "SUTHERLAND EW, RALL TW", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "13549488", "url": "https://glygen.org/publication/PubMed/13549488" } ] }, { "title": "Insights into G protein structure, function, and regulation.", "journal": "Endocrine reviews", "date": "2003", "authors": "Cabrera-Vera TM, Vanhauwe J, Thomas TO, Medkova M, Preininger A, Mazzoni MR, Hamm HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "14671004", "url": "https://glygen.org/publication/PubMed/14671004" } ] }, { "title": "Beta-arrestin2, a novel member of the arrestin/beta-arrestin gene family.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Attramadal H, Arriza JL, Aoki C, Dawson TM, Codina J, Kwatra MM, Snyder SH, Caron MG, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "1517224", "url": "https://glygen.org/publication/PubMed/1517224" } ] }, { "title": "Signal peptide prediction based on analysis of experimentally verified cleavage sites.", "journal": "Protein Sci.", "date": "2004", "authors": "Zhang Z, Henzel WJ", "evidence": [ { "database": "UniProtKB", "id": "P01270", "url": "https://www.uniprot.org/uniprot/P01270" } ], "reference": [ { "type": "PubMed", "id": "15340161", "url": "https://glygen.org/publication/PubMed/15340161" } ] }, { "title": "Expression of the largest CD97 and EMR2 isoforms on leukocytes facilitates a specific interaction with chondroitin sulfate on B cells.", "journal": "Journal of leukocyte biology", "date": "2005", "authors": "Kwakkenbos MJ, Pouwels W, Matmati M, Stacey M, Lin HH, Gordon S, van Lier RA, Hamann J", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "15498814", "url": "https://glygen.org/publication/PubMed/15498814" } ] }, { "title": "Effects of piclamilast, a selective phosphodiesterase-4 inhibitor, on oxidative burst of sputum cells from mild asthmatics and stable COPD patients.", "journal": "Lung", "date": "2004", "authors": "Beeh KM, Beier J, Lerch C, Schulz AK, Buhl R", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "15765929", "url": "https://glygen.org/publication/PubMed/15765929" } ] }, { "title": "Cyclic nucleotide phosphodiesterase-mediated integration of cGMP and cAMP signaling in cells of the cardiovascular system.", "journal": "Frontiers in bioscience : a journal and virtual library", "date": "2005", "authors": "Maurice DH", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "15769620", "url": "https://glygen.org/publication/PubMed/15769620" } ] }, { "title": "The GAPs, GEFs, and GDIs of heterotrimeric G-protein alpha subunits.", "journal": "International journal of biological sciences", "date": "2005", "authors": "Siderovski DP, Willard FS", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "15951850", "url": "https://glygen.org/publication/PubMed/15951850" } ] }, { "title": "Preferential inhibition of human phosphodiesterase 4 by ibudilast.", "journal": "Life sciences", "date": "2006", "authors": "Huang Z, Liu S, Zhang L, Salem M, Greig GM, Chan CC, Natsumeda Y, Noguchi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "16313925", "url": "https://glygen.org/publication/PubMed/16313925" } ] }, { "title": "Purified Wnt5a protein activates or inhibits beta-catenin-TCF signaling depending on receptor context.", "journal": "PLoS biology", "date": "2006", "authors": "Mikels AJ, Nusse R", "evidence": [ { "database": "Reactome", 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"PubMed", "id": "18044684", "url": "https://glygen.org/publication/PubMed/18044684" } ] }, { "title": "Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Datta R, Waheed A, Shah GN, Sly WS", "evidence": [ { "database": "UniProtKB", "id": "P01270", "url": "https://www.uniprot.org/uniprot/P01270" } ], "reference": [ { "type": "PubMed", "id": "18056632", "url": "https://glygen.org/publication/PubMed/18056632" } ] }, { "title": "Molecular recognition of parathyroid hormone by its G protein-coupled receptor.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Pioszak AA, Xu HE", "evidence": [ { "database": "UniProtKB", "id": "P01270", "url": "https://www.uniprot.org/uniprot/P01270" } ], "reference": [ { "type": 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catalytic domains of adenylyl cyclase in a complex with Gsalpha.GTPgammaS.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Tesmer JJ, Sunahara RK, Gilman AG, Sprang SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "9417641", "url": "https://glygen.org/publication/PubMed/9417641" } ] }, { "title": "Stimulation of type 1 and type 8 Ca2+/calmodulin-sensitive adenylyl cyclases by the Gs-coupled 5-hydroxytryptamine subtype 5-HT7A receptor.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Baker LP, Nielsen MD, Impey S, Metcalf MA, Poser SW, Chan G, Obrietan K, Hamblin MW, Storm DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "9651336", "url": "https://glygen.org/publication/PubMed/9651336" 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