{ "uniprot_canonical_ac": "O95007-1", "uniprot_ac": "O95007", "uniprot_id": "OR6B1_HUMAN", "mass": { "chemical_mass": 35299.0, "monoisotopic_mass": 35299.0 }, "refseq": { "ac": "NP_001005281", "name": "olfactory receptor 6B1", "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_001005281" }, "gene_names": [ { "name": "OR6B1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95007", "id": "O95007" }, { "name": "OR6B1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005281", "id": "NP_001005281" }, { "name": "OR7-3; OR7-9", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005281", "id": "NP_001005281" } ], "protein_names": [ { "name": "Olfactory receptor 6B1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95007" }, { "name": "OR7-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95007" }, { "name": "Olfactory receptor 7-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95007" }, { "name": "Olfactory receptor OR7-9", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95007" }, { "name": "olfactory receptor 6B1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005281", "id": "NP_001005281" }, { "name": "olfactory receptor OR7-9; olfactory receptor 7-3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005281", "id": "NP_001005281" } ], "function": [ { "annotation": "Odorant receptor.", "evidence": [ { "database": "UniProtKB", "id": "O95007", "url": "https://www.uniprot.org/uniprot/O95007#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. 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"glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 54, "end_pos": 54, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRP->NRS).", "chr_id": "7", "chr_pos": "144004156", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P54", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767686259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767686259" }, { "id": "rs767686259", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767686259" }, { "id": "rs767686259", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767686259#frequency_tab" }, { "id": "rs767686259", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767686259" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 7, "end_pos": 7, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->NQK).", "chr_id": "7", "chr_pos": "144004016", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T7", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1429792441", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1429792441" }, { "id": "rs1429792441", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1429792441" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 92, "end_pos": 92, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSI->NST).", "chr_id": "7", "chr_pos": "144004271", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I92", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": 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