{ "uniprot_canonical_ac": "A6NJZ3-1", "uniprot_ac": "A6NJZ3", "uniprot_id": "O6C65_HUMAN", "mass": { "chemical_mass": 35198.0, "monoisotopic_mass": 35198.0 }, "refseq": { "ac": "NP_001005518", "name": "olfactory receptor 6C65", "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_001005518" }, "gene_names": [ { "name": "OR6C65", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A6NJZ3", "id": "A6NJZ3" }, { "name": "OR6C65", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005518", "id": "NP_001005518" } ], "protein_names": [ { "name": "Olfactory receptor 6C65", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A6NJZ3" }, { "name": "olfactory receptor 6C65", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005518", "id": "NP_001005518" } ], "function": [ { "annotation": "Odorant receptor.", "evidence": [ { "database": "UniProtKB", "id": "A6NJZ3", "url": "https://www.uniprot.org/uniprot/A6NJZ3#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_001005518", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005518" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs754154166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754154166" }, { "id": "rs754154166", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754154166" }, { "id": "rs754154166", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754154166#frequency_tab" }, { "id": "rs754154166", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754154166" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 178, "end_pos": 178, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "12", "chr_pos": "55401060", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D178", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1162185727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1162185727" }, { "id": "rs1162185727", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1162185727" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 238, "end_pos": 238, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TCS->NCS).", "chr_id": "12", "chr_pos": "55401241", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T238", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A6NJZ3", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NJZ3" } ], "glycoeffect": [], "start_pos": 291, "end_pos": 291, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": 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"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": 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