{ "uniprot_canonical_ac": "A6NF89-1", "uniprot_ac": "A6NF89", "uniprot_id": "OR6C6_HUMAN", "mass": { "chemical_mass": 35963.0, "monoisotopic_mass": 35963.0 }, "refseq": { "ac": "NP_001005493", "name": "olfactory receptor 6C6", "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_001005493" }, "gene_names": [ { "name": "OR6C6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A6NF89", "id": "A6NF89" }, { "name": "OR6C6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005493", "id": "NP_001005493" } ], "protein_names": [ { "name": "Olfactory receptor 6C6", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A6NF89" }, { "name": "olfactory receptor 6C6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005493", "id": "NP_001005493" } ], "function": [ { "annotation": "Odorant receptor.", "evidence": [ { "database": "UniProtKB", "id": "A6NF89", "url": "https://www.uniprot.org/uniprot/A6NF89#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_001005493", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005493" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs776366372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776366372" }, { "id": "rs776366372", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776366372" }, { "id": "rs776366372", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776366372" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 235, "end_pos": 235, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKA->NKT).", "chr_id": "12", "chr_pos": "55294530", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A235", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1207535282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1207535282" }, { "id": "rs1207535282", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1207535282" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 42, "end_pos": 42, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLI->NLT).", "chr_id": "12", "chr_pos": "55295108", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I42", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A6NF89", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NF89" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 55, "end_pos": 55, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "55295069", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T55", "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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"InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR000725", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000725", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017452", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017452", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR047132", "url": "https://www.ebi.ac.uk/interpro/entry/IPR047132", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:283365", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:283365", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "NX_A6NF89", "url": "https://www.nextprot.org/entry/NX_A6NF89", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "KTIDHFM", "url": "https://omabrowser.org/oma/group/KTIDHFM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5401587at2759", "url": "http://www.orthodb.org/?query=5401587at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR26454", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR26454", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR26454:SF40", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR26454:SF40", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF13853", "url": "http://pfam.xfam.org/family/PF13853", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A6NF89", "url": "https://pharos.nih.gov/targets/A6NF89", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A6NF89", "url": "http://purl.obolibrary.org/obo/PR_A6NF89", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-9752946", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9752946", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001005493", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005493", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A6NF89", "url": "https://www.uniprot.org/uniprot/A6NF89", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6NF89-1", "url": "https://www.uniprot.org/uniprot/A6NF89-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKNKSMEIEFILLGLTDDPQLQIVIFLFLFLNYTLSLMGNLIIIILTLLDPRLKTPMYFFLRNFSFLEVIFTTVCIPRFLITIVTRDKTISYNNCATQLFFILLPGVTEFYLLAAMSYDRYVAICKPLHYPIIMSSKVCYQLVLSSWVTGFLIIFPPLVMGLKLDFCASKTIDHFMCETSPILQISCTDTHVLELMSFTLAVVTLVVTLVLVILSYTCIIKTILKFSSAQQRNKAFSTCTSHMIVVSMTYGSCIFMYIKPSAKERVTVSKGVALLYTSIAPLLNPFIYTLRNQQVKEVFWDVLQKNLCFSKRPF", "length": 314, "header": "sp|A6NF89-1|OR6C6_HUMAN Isoform 1 of Olfactory receptor 6C6 OS=Homo sapiens OX=9606 GN=OR6C6 PE=3 SV=1 CANONICAL=A6NF89-1" }, "isoforms": [ { "isoform_ac": "A6NF89-1", "url": "", "sequence": { "sequence": 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asparagine", "start_pos": 3, "start_aa": "Asn", "end_pos": 3, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3", "evidence": [ { "id": "A6NF89", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6NF89#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "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:283365", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:283365", "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": "D3Z9Q0-1", "protein_name": "Olfactory receptor", "gene_name": "Or6c6b", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MKNQSMELDFILLGLTDDPQLQIVVFLFLFLNYMMSLVGNLIIVLLTLLDPRLKTPMYFFLRNFSLLEIMFTTVCIPRFLTTIVTGDKTISYNNCASQLFFILLLGVTEFYLLTAMSYDRYVAICRPLHYPIIMNSRVCHQLVFSSWVTGFLIIFPPLAMGLKLDFCDSRIIDHFMCETSPILQISCTDTRVLEMMSFVLAVVTLVVTLVLVSLSYSLIIKTIINFPSAQQRTKAFSTCTSHMIVVSITYGSCIFMYIKPSARERVTVSKGVALLYTSIVPLLNPFIYTLRNQQVKEVFWDILQKTLSFSKHKV", "length": 314 }, "evidence": [ { "id": "45935559", "url": "http://www.informatics.jax.org/homology/45935559", "database": "MGI" }, { "id": "45916900", "url": "http://www.informatics.jax.org/homology/45916900", "database": "MGI" }, { "id": "45916901", "url": "http://www.informatics.jax.org/homology/45916901", "database": "MGI" }, { "id": "A6NF89", "url": "https://omabrowser.org/oma/group/A6NF89/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "D3ZYB2-1", "protein_name": "Olfactory receptor", "gene_name": "Or6c6h", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MKNQSMELDFILLGLTDDPGLQIVVFLFLFLNYMASLLGNLVIVLLTLLDPCLKTPMYFFPRNFSFLEIMFTTVCIPRFLTTIVTGDKTISYNSCASQLFFYLLLGVTEFYLLAAMSYDRYVAICRPLHYPIIMNSRVCHQLVLSSWVTGFLIIFPPVAMGLKLDFCDSRVIDHFMCETSPILQISCTDTHVLEMMSFVLAVVTLVVTLVLVSLSYSFIIKTTMNFPSAQQRTKAFSTCTSHMIVVSTMYGSCIFMYIKPSARERVTMSKNVALLYTSIAPLLNPFIYTLRNRQVKEFFWDVLRKTMGFLNNKV", "length": 314 }, "evidence": [ { "id": "45916900", "url": "http://www.informatics.jax.org/homology/45916900", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "I3L565-1", "protein_name": "Olfactory receptor", "gene_name": "LOC100153519", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MENQSMEIEFILLGLTDDPQLQIVIFLFLFVNYTLSLMGNVIIILLTLLDPRLKTPMYFFLRNFSFLEIIFTTVCIPRFLVTIVTKEKTISYNNCAAQLFFILLLGVTEFYLLAAMSYDRYVAICKPLHYPILMNSKVCYQLVFSSWVTGFLIIFPPLVMGLKLDFCASRVIDHFMCETSPILQISCTDTRVLELMSFILAVVTLVVTLILVILSYIYIIRNILKFPSTQQRTKAFSTCTSHMIVVSLTYGSCIFMYMKPSARERVTVSKGVALLYTSVAPLLNPFIYTLRNQQVKEVFWDMLQKVVCFPKKQL", "length": 314 }, "evidence": [ { "id": "A6NF89", "url": "https://omabrowser.org/oma/group/A6NF89/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "M0RDX5-1", "protein_name": "Olfactory receptor", "gene_name": "Or6c6i", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MKNQSMEFHFILLGLTDDPRLQIVVFLFLFLNYMMSLVGNLVIVFLTLLDPRLKTPMYFFLRNFSILEIMFTTVCIPRFLTTIVTGDKTISYNNCASQVFFILLLGVTEFYLLAAMSYDRYVAICRPLHYPIIMNSRVCYQLVLSSWVTGFLVIFPPLAMGLELNFCDSWIIDHFMCETSPILQISCTDSHVLEMMSFVLAVVTLVVTLVLVSLSYSFIIKTIMNFPSAQQRTKAFSTCTSHMIVVSMSYGSCIFMYIKPSARERVTVSKGVALLYTSIAPLLNPFIYTLRNQQVKEVFWDILQKTLSFSKHKV", "length": 314 }, "evidence": [ { "id": "45935559", "url": "http://www.informatics.jax.org/homology/45935559", "database": "MGI" }, { "id": "45916901", "url": "http://www.informatics.jax.org/homology/45916901", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q7TRH7-1", "protein_name": "Olfactory receptor", "gene_name": "Or6c6c", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MKNQSMELDFILLGLTDDPQLQIVVFLFLFLNYMMSLVGNLIIVLLTLLDPRLKTPMYFFLRNFSYLEIMFTTVCIPKFLTAIVTGDKTVSYNNCATQLFFYLLLGVTEFYLLAAMSYDRYVAICRPLHYPIIMNSKVCHQLVLSSWVTGFLIIFPPLAMGLKLDFCDSRIIDHFMCETSPILQISCTDTHVIEMMSFVLAVVTLVVTLVLVSLSYSFIIKTIMSFPSAQQRTKAFSTCTSHMIVVSITYGSCIFMYIKPSARERVSVSKGVALLYTSIAPLLNPFIYTLRNQQVKEVFWDILRKTLGFLKNKV", "length": 314 }, "evidence": [ { "id": "45916900", "url": "http://www.informatics.jax.org/homology/45916900", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q7TRI2-1", "protein_name": "Olfactory receptor", "gene_name": "Or6c6", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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