{ "uniprot_canonical_ac": "P30559-1", "uniprot_ac": "P30559", "uniprot_id": "OXYR_HUMAN", "mass": { "chemical_mass": 42772.0, "monoisotopic_mass": 42772.0 }, "refseq": { "ac": "NP_000907", "name": "oxytocin receptor", "summary": "The protein encoded by this gene belongs to the G-protein coupled receptor family and acts as a receptor for oxytocin. Its activity is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. The oxytocin-oxytocin receptor system plays an important role in the uterus during parturition. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000907" }, "gene_names": [ { "name": "OXTR", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P30559", "id": "P30559" }, { "name": "OT-R; OTR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000907", "id": "NP_000907" }, { "name": "OXTR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000907", "id": "NP_000907" } ], "protein_names": [ { "name": "Oxytocin receptor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P30559" }, { "name": "OT-R", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P30559" }, { "name": "oxytocin receptor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000907", "id": "NP_000907" } ], "function": [ { "annotation": "Endogenous oxytocin levels in children with autism: Associations with cortisol levels and oxytocin receptor gene methylation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000907" }, { "database": "PubMed", "id": "37391413", "url": "https://glygen.org/publication/PubMed/37391413" } ] }, { "annotation": "Epigenetic modification of the oxytocin receptor gene is associated with child-parent neural synchrony during competition.", "evidence": [ { "database": "RefSeq", "id": "NP_000907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000907" }, { "database": "PubMed", "id": "37734257", "url": "https://glygen.org/publication/PubMed/37734257" } ] }, { "annotation": "Genetic Variation, Stress, and Physiological Stress Response in Adults With Food Allergy or Celiac Disease.", "evidence": [ { "database": "RefSeq", "id": "NP_000907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000907" }, { "database": "PubMed", "id": "36280595", "url": "https://glygen.org/publication/PubMed/36280595" } ] }, { "annotation": "Oxytocin receptor (OXTR) is a risk gene for polycystic ovarian syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_000907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000907" }, { "database": "PubMed", "id": "37013781", "url": "https://glygen.org/publication/PubMed/37013781" } ] }, { "annotation": "Oxytocin receptor single nucleotide polymorphism predicts atony-related postpartum hemorrhage. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000907" }, { "database": "PubMed", "id": "36447139", "url": "https://glygen.org/publication/PubMed/36447139" } ] }, { "annotation": "Receptor for oxytocin. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system.", "evidence": [ { "database": "UniProtKB", "id": "P30559", "url": "https://www.uniprot.org/uniprot/P30559#function" }, { "database": "UniProtKB", "id": "C9JN09", "url": "https://www.uniprot.org/uniprot/C9JN09#function" }, { "database": "UniProtKB", "id": "RU046427", "url": "https://www.uniprot.org/uniprot/RU046427#function" }, { "database": "UniProtKB", "id": "ARBA00004041", "url": "https://www.uniprot.org/uniprot/ARBA00004041#function" } ] }, { "annotation": "The protein encoded by this gene belongs to the G-protein coupled receptor family and acts as a receptor for oxytocin. Its activity is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. The oxytocin-oxytocin receptor system plays an important role in the uterus during parturition. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000907" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1044054410", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1044054410" }, { "id": "rs1044054410", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1044054410#frequency_tab" }, { "id": "rs1044054410", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1044054410" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 10, "end_pos": 10, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWS->NWN).", "chr_id": "3", "chr_pos": "8768159", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S10", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs948430170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs948430170" }, { "id": "rs948430170", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs948430170#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 10, "end_pos": 10, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWS->NWR).", "chr_id": "3", "chr_pos": "8768158", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S10", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs921957230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs921957230" }, { "id": "rs921957230", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs921957230" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 15, "end_pos": 15, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 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"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": 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"url": "https://www.ensembl.org/id/ENST00000316793.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000324270.2", "url": "https://www.ensembl.org/id/ENSP00000324270.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 15, "start_aa": "Asn", "end_pos": 15, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn15", "evidence": [ { "id": "P30559", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30559#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 26, "start_aa": "Asn", "end_pos": 26, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn26", "evidence": [ { "id": "P30559", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30559#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 8, "start_aa": "Asn", "end_pos": 8, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn8", "evidence": [ { "id": "P30559", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30559#ptm_processing" }, { "id": "9433921", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/9433921" }, { "id": "9433921", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9433921" } ] } ], "phosphorylation": [ { "start_pos": 366, "end_pos": 366, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P30559", "url": "https://www.uniprot.org/uniprot/P30559" } ], "site_lbl": "Ser366" }, { "start_pos": 368, "end_pos": 368, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P30559", "url": "https://www.uniprot.org/uniprot/P30559" } ], "site_lbl": "Ser368" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_predicted" ], "publication": [ { "title": "Genomic organization of the human galpha14 and Galphaq genes and mutation analysis in chorea-acanthocytosis (CHAC).", "journal": "Genomics", "date": "1999", "authors": "Rubio JP, Levy ER, Dobson-Stone C, Monaco AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "10191087", "url": "https://glygen.org/publication/PubMed/10191087" } ] }, { "title": "Selective regulation of Galpha(q/11) by an RGS domain in the G protein-coupled receptor kinase, GRK2.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Carman CV, Parent JL, Day PW, Pronin AN, Sternweis PM, Wedegaertner PB, Gilman AG, Benovic JL, Kozasa T", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "10567430", "url": "https://glygen.org/publication/PubMed/10567430" } ] }, { "title": "Selective regulation of Gq signaling by G protein-coupled receptor kinase 2: direct interaction of kinase N terminus with activated galphaq.", "journal": "Molecular pharmacology", "date": "2000", "authors": "Sallese M, Mariggio S, D'Urbano E, Iacovelli L, De Blasi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "10727532", "url": "https://glygen.org/publication/PubMed/10727532" } ] }, { "title": "G protein-coupled receptor kinase-5 regulates thrombin-activated signaling in endothelial cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Tiruppathi C, Yan W, Sandoval R, Naqvi T, Pronin AN, Benovic JL, Malik AB", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "10861009", "url": "https://glygen.org/publication/PubMed/10861009" } ] }, { "title": "Structure, function, and control of phosphoinositide-specific phospholipase C.", "journal": "Physiological reviews", "date": "2000", "authors": "Rebecchi MJ, Pentyala SN", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "11015615", "url": "https://glygen.org/publication/PubMed/11015615" } ] }, { "title": "Competing modes of self-association in the regulatory domains of Bruton's tyrosine kinase: intramolecular contact versus asymmetric homodimerization.", "journal": "Protein science : a publication of the Protein Society", "date": "2002", "authors": "Laederach A, Cradic KW, Brazin KN, Zamoon J, Fulton DB, Huang XY, Andreotti AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "11742120", "url": "https://glygen.org/publication/PubMed/11742120" } ] }, { "title": "A unique fold of phospholipase C-beta mediates dimerization and interaction with G alpha q.", "journal": "Nature structural biology", "date": "2002", "authors": "Singer AU, Waldo GL, Harden TK, Sondek J", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "11753430", "url": "https://glygen.org/publication/PubMed/11753430" } ] }, { "title": "Regulators of G-protein signalling as new central nervous system drug targets.", "journal": "Nature reviews. 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"1997", "authors": "Saito M, Tahara A, Sugimoto T", "evidence": [ { "database": "Reactome", "id": "R-HSA-388479", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-388479" } ], "reference": [ { "type": "PubMed", "id": "9264324", "url": "https://glygen.org/publication/PubMed/9264324" } ] }, { "title": "Direct stimulation of Bruton's tyrosine kinase by G(q)-protein alpha-subunit.", "journal": "Nature", "date": "1997", "authors": "Bence K, Ma W, Kozasa T, Huang XY", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "9305846", "url": "https://glygen.org/publication/PubMed/9305846" } ] }, { "title": "Pharmacological characterization of YM087, a potent, nonpeptide human vasopressin V1A and V2 receptor antagonist.", "journal": "Naunyn-Schmiedeberg's archives of pharmacology", "date": "1998", "authors": "Tahara A, Saito M, Sugimoto T, Tomura Y, Wada K, Kusayama T, 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