{ "uniprot_canonical_ac": "Q8NGL1-1", "uniprot_ac": "Q8NGL1", "uniprot_id": "OR5DI_HUMAN", "mass": { "chemical_mass": 35348.0, "monoisotopic_mass": 35348.0 }, "refseq": { "ac": "NP_001001952", "name": "olfactory receptor 5D18", "summary": "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001952" }, "gene_names": [ { "name": "OR5D18", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8NGL1", "id": "Q8NGL1" }, { "name": "OR11-143", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001952", "id": "NP_001001952" }, { "name": "OR5D18", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001952", "id": "NP_001001952" } ], "protein_names": [ { "name": "Olfactory receptor 5D18", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8NGL1" }, { "name": "Olfactory receptor OR11-143", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8NGL1" }, { "name": "Olfactory receptor OR11-152", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8NGL1" }, { "name": "olfactory receptor 5D18", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001952", "id": "NP_001001952" }, { "name": "olfactory receptor OR11-143; olfactory receptor OR11-152", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001952", "id": "NP_001001952" } ], "function": [ { "annotation": "Odorant receptor.", "evidence": [ { "database": "UniProtKB", "id": "Q8NGL1", "url": "https://www.uniprot.org/uniprot/Q8NGL1#function" } ] }, { "annotation": "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001001952", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001952" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "Q8NGL1", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q8NGL1" } ], "glycoeffect": [], "start_pos": 120, "end_pos": 120, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "55819987", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A120", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant 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"https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": 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U.S.A.", "date": "2004", "authors": "Malnic B, Godfrey PA, Buck LB", "evidence": [ { "database": "UniProtKB", "id": "Q8NGL1", "url": "https://www.uniprot.org/uniprot/Q8NGL1" } ], "reference": [ { "type": "PubMed", "id": "14983052", "url": "https://glygen.org/publication/PubMed/14983052" } ] }, { "title": "Profiling of olfactory receptor gene expression in whole human olfactory mucosa.", "journal": "PloS one", "date": "2014", "authors": "Verbeurgt C, Wilkin F, Tarabichi M, Gregoire F, Dumont JE, Chatelain P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9752946", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9752946" } ], "reference": [ { "type": "PubMed", "id": "24800820", "url": "https://glygen.org/publication/PubMed/24800820" } ] }, { "title": "The human olfactory transcriptome.", "journal": "BMC genomics", "date": "2016", "authors": "Olender T, Keydar I, Pinto JM, Tatarskyy P, Alkelai A, Chien MS, Fishilevich S, Restrepo D, Matsunami H, Gilad Y, Lancet D", "evidence": [ { "database": "Reactome", "id": "R-HSA-9752946", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9752946" } ], "reference": [ { "type": "PubMed", "id": "27515280", "url": "https://glygen.org/publication/PubMed/27515280" } ] }, { "title": "Structural instability and divergence from conserved residues underlie intracellular retention of mammalian odorant receptors.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2020", "authors": "Ikegami K, de March CA, Nagai MH, Ghosh S, Do M, Sharma R, Bruguera ES, Lu YE, Fukutani Y, Vaidehi N, Yohda M, Matsunami H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9752946", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9752946" } ], "reference": [ { "type": "PubMed", "id": "31974307", "url": "https://glygen.org/publication/PubMed/31974307" } ] }, { "title": "Single-cell analysis of olfactory neurogenesis and differentiation in adult humans.", "journal": "Nature neuroscience", "date": "2020", "authors": "Durante MA, Kurtenbach S, Sargi ZB, Harbour JW, Choi R, Kurtenbach S, Goss GM, Matsunami H, Goldstein BJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9752946", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9752946" } ], "reference": [ { "type": "PubMed", "id": "32066986", "url": "https://glygen.org/publication/PubMed/32066986" } ] } ], "pathway": [ { "id": "hsa:219438", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:219438", "resource": "KEGG Pathway" }, { "id": "R-HSA-9752946", "name": "Expression and translocation of olfactory receptors", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9752946", "resource": "Reactome", "description": "Expression and translocation of olfactory receptors" } ], "orthologs": [ { "uniprot_canonical_ac": "A2BHP6-1", "protein_name": "Olfactory receptor", "gene_name": "Or5d47", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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