{ "uniprot_canonical_ac": "O95221-1", "uniprot_ac": "O95221", "uniprot_id": "OR5F1_HUMAN", "mass": { "chemical_mass": 35132.0, "monoisotopic_mass": 35132.0 }, "refseq": { "ac": "NP_003688", "name": "olfactory receptor 5F1", "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_003688" }, "gene_names": [ { "name": "OR5F1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95221", "id": "O95221" }, { "name": "OR11-10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003688", "id": "NP_003688" }, { "name": "OR5F1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003688", "id": "NP_003688" } ], "protein_names": [ { "name": "Olfactory receptor 5F1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95221" }, { "name": "OR11-10", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95221" }, { "name": "Olfactory receptor 11-10", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95221" }, { "name": "Olfactory receptor OR11-167", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95221" }, { "name": "olfactory receptor 11-10; olfactory receptor OR11-167", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003688", "id": "NP_003688" }, { "name": "olfactory receptor 5F1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003688", "id": "NP_003688" } ], "function": [ { "annotation": "Odorant receptor.", "evidence": [ { "database": "UniProtKB", "id": "O95221", "url": "https://www.uniprot.org/uniprot/O95221#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_003688", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003688" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O95221", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95221" } ], "glycoeffect": [], "start_pos": 128, "end_pos": 128, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "55994243", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R128", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of 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"database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774253125#frequency_tab" }, { "id": "rs774253125", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774253125" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 165, "end_pos": 165, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "11", "chr_pos": "55994132", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S165", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95221", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95221" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 200, "end_pos": 200, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", 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