{ "uniprot_canonical_ac": "O60431-1", "uniprot_ac": "O60431", "uniprot_id": "OR1I1_HUMAN", "mass": { "chemical_mass": 39297.0, "monoisotopic_mass": 39297.0 }, "refseq": { "ac": "NP_001004713", "name": "olfactory receptor 1I1", "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_001004713" }, "gene_names": [ { "name": "OR1I1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60431", "id": "O60431" }, { "name": "OR19-20; OR1I1P; OR1I1Q", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004713", "id": "NP_001004713" }, { "name": "OR1I1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004713", "id": "NP_001004713" } ], "protein_names": [ { "name": "Olfactory receptor 1I1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60431" }, { "name": "OR19-20", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60431" }, { "name": "Olfactory receptor 19-20", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60431" }, { "name": "olfactory receptor 19-20", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004713", "id": "NP_001004713" }, { "name": "olfactory receptor 1I1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004713", "id": "NP_001004713" } ], "function": [ { "annotation": "Odorant receptor.", "evidence": [ { "database": "UniProtKB", "id": "O60431", "url": "https://www.uniprot.org/uniprot/O60431#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_001004713", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004713" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O60431", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60431" } ], "glycoeffect": [], "start_pos": 163, "end_pos": 163, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "15087552", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "M163", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled 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