{ "uniprot_canonical_ac": "P11230-1", "uniprot_ac": "P11230", "uniprot_id": "ACHB_HUMAN", "mass": { "chemical_mass": 56698.0, "monoisotopic_mass": 56698.0 }, "refseq": { "ac": "NP_000738", "name": "acetylcholine receptor subunit beta precursor", "summary": "The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000738" }, "gene_names": [ { "name": "CHRNB1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11230", "id": "P11230" }, { "name": "ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000738", "id": "NP_000738" }, { "name": "ACHRB", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11230", "id": "P11230" }, { "name": "CHRNB1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000738", "id": "NP_000738" }, { "name": "CHRNB", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11230", "id": "P11230" } ], "protein_names": [ { "name": "Acetylcholine receptor subunit beta", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11230" }, { "name": "acetylcholine receptor subunit beta precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000738", "id": "NP_000738" }, { "name": "cholinergic receptor, nicotinic, beta polypeptide 1 (muscle); cholinergic receptor, nicotinic beta 1; acetylcholine receptor subunit beta; acetylcholine receptor, nicotinic, beta 1 (muscle); cholinergic receptor, nicotinic, beta 1 (muscle)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000738", "id": "NP_000738" } ], "function": [ { "annotation": "After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "I3L3Q9", "url": "https://www.uniprot.org/uniprot/I3L3Q9#function" }, { "database": "UniProtKB", "id": "ARBA00003328", "url": "https://www.uniprot.org/uniprot/ARBA00003328#function" }, { "database": "UniProtKB", "id": "I3L4N5", "url": "https://www.uniprot.org/uniprot/I3L4N5#function" }, { "database": "UniProtKB", "id": "I3L1T7", "url": "https://www.uniprot.org/uniprot/I3L1T7#function" }, { "database": "UniProtKB", "id": "P11230", "url": "https://www.uniprot.org/uniprot/P11230#function" }, { "database": "PubMed", "id": "27375219", "url": "https://glygen.org/publication/PubMed/27375219" } ] }, { "annotation": "CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.", "evidence": [ { "database": "RefSeq", "id": "NP_000738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000738" }, { "database": "PubMed", "id": "33296147", "url": "https://glygen.org/publication/PubMed/33296147" } ] }, { "annotation": "Reply to Zhu et al.: Implications of CHRNB1 and ERBB2 in the pathobiology of myasthenia gravis.", "evidence": [ { "database": "RefSeq", "id": "NP_000738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000738" }, { "database": "PubMed", "id": "35969799", "url": "https://glygen.org/publication/PubMed/35969799" } ] }, { "annotation": "Study traced the cause of congenital myasthenia syndrome in unrelated patients with dominant missense mutations in the M2 domain of AChR. A valine residue is replaced by a smaller alanine either in the epsilon subunit or an equivalent position in the beta one. Also, each valine in the valine ring was found to contribute to channel kinetics equally, and the valine ring has bee optimized during evolution to govern channe...", "evidence": [ { "database": "RefSeq", "id": "NP_000738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000738" }, { "database": "PubMed", "id": "27375219", "url": "https://glygen.org/publication/PubMed/27375219" } ] }, { "annotation": "The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000738" } ] }, { "annotation": "This study reports on the presence of the CHRNB1 at the cellular level in human skeletal muscle and placenta and that mRNA expression mirrors that of protein within cell types.", "evidence": [ { "database": "RefSeq", "id": "NP_000738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000738" }, { "database": "PubMed", "id": "28153524", "url": "https://glygen.org/publication/PubMed/28153524" } ] } ], "disease": [ { "disease_id": "DOID:0110680", "recommended_name": { "id": "DOID:0110680", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110680", "name": "congenital myasthenic syndrome 2C", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the 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"http://disease-ontology.org/term/DOID:0110681", "name": "congenital myasthenic syndrome 2A slow-channel", "description": "" }, { "id": "MONDO:0014581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014581", "name": "congenital myasthenic syndrome 2A", "description": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13." }, { "id": "MONDO:0014581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014581", "name": "CMS2A", "description": "" }, { "id": "MONDO:0014581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014581", "name": "congenital myasthenic syndrome 2A slow-channel", "description": "" }, { "id": "MONDO:0014581", 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P11230", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11230" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { 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"name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "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" } ] } ] }, { "significant": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P11230", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11230" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P11230", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11230" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11230" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P11230", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11230" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal 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] }, { "id": "I3L4N5", "url": "https://www.uniprot.org/uniprot/I3L4N5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L4N5-1", "url": "https://www.uniprot.org/uniprot/I3L4N5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L535", "url": "https://www.uniprot.org/uniprot/I3L535", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L535-1", "url": "https://www.uniprot.org/uniprot/I3L535-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11230", "url": "https://www.uniprot.org/uniprot/P11230", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11230-1", "url": "https://www.uniprot.org/uniprot/P11230-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11230-2", "url": "https://www.uniprot.org/uniprot/P11230-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTPGALLMLLGALGAPLAPGVRGSEAEGRLREKLFSGYDSSVRPAREVGDRVRVSVGLILAQLISLNEKDEEMSTKVYLDLEWTDYRLSWDPAEHDGIDSLRITAESVWLPDVVLLNNNDGNFDVALDISVVVSSDGSVRWQPPGIYRSSCSIQVTYFPFDWQNCTMVFSSYSYDSSEVSLQTGLGPDGQGHQEIHIHEGTFIENGQWEIIHKPSRLIQPPGDPRGGREGQRQEVIFYLIIRRKPLFYLVNVIAPCILITLLAIFVFYLPPDAGEKMGLSIFALLTLTVFLLLLADKVPETSLSVPIIIKYLMFTMVLVTFSVILSVVVLNLHHRSPHTHQMPLWVRQIFIHKLPLYLRLKRPKPERDLMPEPPHCSSPGSGWGRGTDEYFIRKPPSDFLFPKPNRFQPELSAPDLRRFIDGPNRAVALLPELREVVSSISYIARQLQEQEDHDALKEDWQFVAMVVDRLFLWTFIIFTSVGTLVIFLDATYHLPPPDPFP", "length": 501, "header": "sp|P11230-1|ACHB_HUMAN Isoform 1 of Acetylcholine receptor subunit beta OS=Homo sapiens OX=9606 GN=CHRNB1 PE=1 SV=3 CANONICAL=P11230-1" }, "isoforms": [ { "isoform_ac": "I3L1T7-1", "url": "", "sequence": { "sequence": "MSTKVYLDLEWTDYRLSWDPAEHDGIDSLRITAESVWLPDVVLLNNNDGNFDVALDISVVVSSDGSVRWQPPGIYRSSCSIQVTYFPFDWQNCTMVFSSYSYDSSEVSLQTGLGPDGQGHQEIHIHEGTFIENGQWEIIHKPSRLIQPPGDPRGGREGQRQEVIFYLIIRRKPLFYLVNVIAPCILITLLAIFVFYLPPDAVILSVVVLNLHHRSPHTHQMPLWVRQIFIHKLPLYLRLKRPKPERDLMPEPPHCSSPGSGWGRGTDEYFIRKPPSDFLFPKPNRFQPELSAPDLRRFIDGPNRAVALLPELREVVSSISYIARQLQEQEDHDALKEDWQFVAMVVDRLFLWTFIIFTSVGTLVIFLDATYHLPPPDPFP", "length": 380, "header": "tr|I3L1T7-1|ACHB_HUMAN Computationally mapped isoform of Acetylcholine receptor subunit beta OS=Homo sapiens OX=9606 GN=CHRNB1 PE=1 SV=1 CANONICAL=P11230-1" }, "locus": { "chromosome": "17", "start_pos": 7456720, "end_pos": 7446087, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000576360.1", "url": "https://www.ensembl.org/id/ENST00000576360.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000459092.1", "url": "https://www.ensembl.org/id/ENSP00000459092.1" } ] } }, { "isoform_ac": "I3L3Q9-1", "url": "", "sequence": { "sequence": "XPAREVGDRVRVSVGLILAQLISLNEKDEEMSTKVYLDLEWTDYRLSWDPAEHDGIDSLRITAESVWLPDVVLLNNNDGNFDVALDISVVVSSDGSVRWQPPGIYRSSCSIQVTYFPFDWQNCTMVFSSYSYDSSEVSLQTGLGPDGQGHQEIHIHEGTFIGEKMGLSIFALLTLTVFLLLLADKVPETSLSVPIIIKYLMFTMVLVTFSVILSVVVLNLHHRSPHTHQMPLWVRQIFIHKLPLYLRLKRPKPERDLMPEPPHCSSPGSGWGRGTDEYFIRKPPSDFLFPKPNRFQPELSAPDLRRFIDGPNRAVA", "length": 316, "header": "tr|I3L3Q9-1|ACHB_HUMAN Computationally mapped isoform of Acetylcholine receptor subunit beta OS=Homo sapiens OX=9606 GN=CHRNB1 PE=1 SV=1 CANONICAL=P11230-1" }, "locus": { "chromosome": "17", "start_pos": 7455860, "end_pos": 7445339, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000570557.5", "url": "https://www.ensembl.org/id/ENST00000570557.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000460648.1", "url": "https://www.ensembl.org/id/ENSP00000460648.1" } ] } }, { "isoform_ac": "I3L4N5-1", "url": "", "sequence": { "sequence": "MTPGALLMLLGALGAPLAPGVRGSEAEGRLREKLFSGYDSSVRPAREVGDRVRVSVGLILAQLISLNEKDEEMSTKVYLDLAVLECGGSSHPPASGGTSTSAEITAEWTDYRLSWDPAEHDGIDSLRITAESVWLPDVVLLNNNDGNFDVALDISVVV", "length": 158, "header": "tr|I3L4N5-1|ACHB_HUMAN Computationally mapped isoform of Acetylcholine receptor subunit beta OS=Homo sapiens OX=9606 GN=CHRNB1 PE=1 SV=1 CANONICAL=P11230-1" }, "locus": { "chromosome": "17", "start_pos": 7447088, "end_pos": 7445128, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000572857.5", "url": "https://www.ensembl.org/id/ENST00000572857.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000461402.1", "url": "https://www.ensembl.org/id/ENSP00000461402.1" } ] } }, { "isoform_ac": "I3L535-1", "url": "", "sequence": { "sequence": "MVVDRLFLWTFIIFTSVGTLVIFLDATYHLPPPDPFP", "length": 37, "header": "tr|I3L535-1|ACHB_HUMAN Computationally mapped isoform of Acetylcholine receptor subunit beta OS=Homo sapiens OX=9606 GN=CHRNB1 PE=1 SV=1 CANONICAL=P11230-1" }, "locus": { "chromosome": "17", "start_pos": 7456720, "end_pos": 7456610, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000575379.1", "url": "https://www.ensembl.org/id/ENST00000575379.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000461751.1", "url": "https://www.ensembl.org/id/ENSP00000461751.1" } ] } }, { "isoform_ac": "P11230-1", "url": "", "sequence": { "sequence": "MTPGALLMLLGALGAPLAPGVRGSEAEGRLREKLFSGYDSSVRPAREVGDRVRVSVGLILAQLISLNEKDEEMSTKVYLDLEWTDYRLSWDPAEHDGIDSLRITAESVWLPDVVLLNNNDGNFDVALDISVVVSSDGSVRWQPPGIYRSSCSIQVTYFPFDWQNCTMVFSSYSYDSSEVSLQTGLGPDGQGHQEIHIHEGTFIENGQWEIIHKPSRLIQPPGDPRGGREGQRQEVIFYLIIRRKPLFYLVNVIAPCILITLLAIFVFYLPPDAGEKMGLSIFALLTLTVFLLLLADKVPETSLSVPIIIKYLMFTMVLVTFSVILSVVVLNLHHRSPHTHQMPLWVRQIFIHKLPLYLRLKRPKPERDLMPEPPHCSSPGSGWGRGTDEYFIRKPPSDFLFPKPNRFQPELSAPDLRRFIDGPNRAVALLPELREVVSSISYIARQLQEQEDHDALKEDWQFVAMVVDRLFLWTFIIFTSVGTLVIFLDATYHLPPPDPFP", "length": 501, "header": "sp|P11230-1|ACHB_HUMAN Isoform 1 of Acetylcholine receptor subunit beta OS=Homo sapiens OX=9606 GN=CHRNB1 PE=1 SV=3 CANONICAL=P11230-1" }, "locus": { "chromosome": "17", "start_pos": 7456720, "end_pos": 7445128, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000306071.7", "url": "https://www.ensembl.org/id/ENST00000306071.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000304290.2", "url": "https://www.ensembl.org/id/ENSP00000304290.2" } ] } }, { "isoform_ac": "P11230-2", "url": "", "sequence": { "sequence": "MSTKVYLDLEWTDYRLSWDPAEHDGIDSLRITAESVWLPDVVLLNNNDGNFDVALDISVVVSSDGSVRWQPPGIYRSSCSIQVTYFPFDWQNCTMVFSSYSYDSSEVSLQTGLGPDGQGHQEIHIHEGTFIENGQWEIIHKPSRLIQPPGDPRGGREGQRQEVIFYLIIRRKPLFYLVNVIAPCILITLLAIFVFYLPPDAGEKMGLSIFALLTLTVFLLLLADKVPETSLSVPIIIKYLMFTMVLVTFSVILSVVVLNLHHRSPHTHQMPLWVRQIFIHKLPLYLRLKRPKPERDLMPEPPHCSSPGSGWGRGTDEYFIRKPPSDFLFPKPNRFQPELSAPDLRRFIDGPNRAVALLPELREVVSSISYIARQLQEQEDHDALKEDWQFVAMVVDRLFLWTFIIFTSVGTLVIFLDATYHLPPPDPFP", "length": 429, "header": "sp|P11230-2|ACHB_HUMAN Isoform 2 of Acetylcholine receptor subunit beta OS=Homo sapiens OX=9606 GN=CHRNB1 PE=1 SV=3 CANONICAL=P11230-1" }, "locus": { "chromosome": "HG2046_PATCH", "start_pos": 77177, "end_pos": 66544, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639993.1", "url": "https://www.ensembl.org/id/ENST00000639993.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491113.1", "url": "https://www.ensembl.org/id/ENSP00000491113.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 164, "start_aa": "Asn", "end_pos": 164, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn164", "evidence": [ { "id": "P11230", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11230#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 390, "end_pos": 390, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by Tyr-kinases", "evidence": [ { "database": "UniProtKB", "id": "P11230", "url": "https://www.uniprot.org/uniprot/P11230" }, { "database": "iPTMnet", "id": "P11230", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11230" }, { "database": "PubMed", "id": "23325468", "url": "https://glygen.org/publication/PubMed/23325468" } ], "site_lbl": "Tyr390" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly.", "journal": "The Journal of clinical investigation", "date": "1999", "authors": "Quiram PA, Ohno K, Milone M, Patterson MC, Pruitt NJ, Brengman JM, Sine SM, Engel AG", "evidence": [ { "database": "UniProtKB", "id": "P11230", "url": "https://www.uniprot.org/uniprot/P11230" } ], "reference": [ { "type": "PubMed", "id": "10562302", "url": "https://glygen.org/publication/PubMed/10562302" } ] }, { "title": "Alpha-conotoxins ImI and ImII target distinct regions of the human alpha7 nicotinic acetylcholine receptor and distinguish human nicotinic receptor subtypes.", "journal": "Biochemistry", "date": "2004", "authors": "Ellison M, Gao F, Wang HL, Sine SM, McIntosh JM, Olivera BM", "evidence": [ { "database": "UniProtKB", "id": "P11230", "url": "https://www.uniprot.org/uniprot/P11230" } ], "reference": [ { "type": "PubMed", "id": "15609996", "url": "https://glygen.org/publication/PubMed/15609996" } ] }, { "title": "Regulation of muscle acetylcholine receptor turnover by \u03b2 subunit tyrosine phosphorylation.", "journal": "Developmental neurobiology", "date": "2013-05", "authors": "Rudell John B, Ferns Michael J", "evidence": [ { "database": "iPTMnet", "id": "P11230", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11230" } ], "reference": [ { "type": "PubMed", "id": "23325468", "url": "https://glygen.org/publication/PubMed/23325468" } ] }, { "title": "Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating.", "journal": "Human mutation", "date": "2016", "authors": "Shen XM, Okuno T, Milone M, Otsuka K, Takahashi K, Komaki H, Giles E, Ohno K, Engel AG", "evidence": [ { "database": "UniProtKB", "id": "P11230", "url": "https://www.uniprot.org/uniprot/P11230" }, { "database": "RefSeq", "id": "NP_000738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000738" } ], "reference": [ { "type": "PubMed", "id": "27375219", "url": "https://glygen.org/publication/PubMed/27375219" } ] }, { "title": "Nucleotide sequence of human muscle acetylcholine receptor beta-subunit.", "journal": "Nucleic Acids Res.", "date": "1989", "authors": "Beeson D, Brydson M, Newsom-Davis J", "evidence": [ { "database": "UniProtKB", "id": "P11230", "url": "https://www.uniprot.org/uniprot/P11230" } ], "reference": [ { "type": "PubMed", "id": "2740233", "url": "https://glygen.org/publication/PubMed/2740233" } ] }, { "title": "Cellular protein and mRNA expression of beta1 nicotinic acetylcholine receptor (nAChR) subunit in brain, skeletal muscle and placenta.", "journal": "International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience", "date": "2017", "authors": "Aishah A, Hinton T, Machaalani R", "evidence": [ { "database": "RefSeq", "id": "NP_000738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000738" } ], "reference": [ { "type": "PubMed", "id": "28153524", "url": "https://glygen.org/publication/PubMed/28153524" } ] }, { "title": "CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.", "journal": "American journal of medical genetics. Part A", "date": "2021", "authors": "Freed AS, Schwarz AC, Brei BK, Clowes Candadai SV, Thies J, Mah JK, Chabra S, Wang L, Innes AM, Bennett JT", "evidence": [ { "database": "RefSeq", "id": "NP_000738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000738" } ], "reference": [ { "type": "PubMed", "id": "33296147", "url": "https://glygen.org/publication/PubMed/33296147" } ] }, { "title": "Reply to Zhu et al.: Implications of CHRNB1 and ERBB2 in the pathobiology of myasthenia gravis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2022", "authors": "Chia R, Saez-Atienzar S, Drachman DB, Traynor BJ", "evidence": [ { "database": "RefSeq", "id": "NP_000738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000738" } ], "reference": [ { "type": "PubMed", "id": "35969799", "url": "https://glygen.org/publication/PubMed/35969799" } ] }, { "title": "A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome.", "journal": "Annals of neurology", "date": "1996", "authors": "Gomez CM, Maselli R, Gammack J, Lasalde J, Tamamizu S, Cornblath DR, Lehar M, McNamee M, Kuncl RW", "evidence": [ { "database": "UniProtKB", "id": "P11230", "url": "https://www.uniprot.org/uniprot/P11230" } ], "reference": [ { "type": "PubMed", "id": "8651643", "url": "https://glygen.org/publication/PubMed/8651643" } ] }, { "title": "New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.", "journal": "Human molecular genetics", "date": "1996", "authors": "Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN 2nd, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM", "evidence": [ { "database": "UniProtKB", "id": "P11230", "url": "https://www.uniprot.org/uniprot/P11230" } ], "reference": [ { "type": "PubMed", "id": "8872460", "url": "https://glygen.org/publication/PubMed/8872460" } ] } ], "pathway": [ { "id": "hsa:1140", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1140", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "I3L9G3-1", "protein_name": "Acetylcholine receptor subunit beta", "gene_name": "CHRNB1", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MTPGALLVLLLGAVGAPLAPGALGSEAEGRLREKLFSGYDSSVRPAREVGDRVGVSIGLSLAQLISLNEKDEEMSTKVYLDLEWTDYRLSWDPAEHEGIDSLRITAGSVWLPDVVLLNNNDGNFDVALDINVVVSSDGSVRWRPPGIYRSSCSIQVTYFPFDWQNCTMVFSSYSYDSSEVSLQTGLGPDGQERQEVHIHEGTFIENGQWEIIHKPSRLIQPPADPRGGGEGRREEVTFYLIIRRKPLFYLVNVIAPCILITILAIFVFYLPPDAGEKMGLSIFALLTLTVFLLLLADKVPETSLSVPIIIKYLMFTMVLVTFSVILSVVVLNLHHRSPHTHQMPLWVRQIFILKLPLYLGLKRPKPERDQMPEPPPVALRDSPGSGWGRGTDEYFIRKPPNDFLFPKPNRFQPELSAPDPRRFVDGPNRAVGLPPELREVVSSISYIARQLQEQEDHDALKEDWQFVAMVVDRLFLWTFIIFTSVGTLVIFLDATYHLPPADPFP", "length": 505 }, "evidence": [ { "id": "P11230", "url": "https://omabrowser.org/oma/group/P11230/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "P09690-1", "protein_name": "Acetylcholine receptor subunit beta", "gene_name": "Chrnb1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MALGALLLLLGVLGTPLAPGARGSEAEGQLIKKLFSNYDSSVRPAREVGDRVGVSIGLTLAQLISLNEKDEEMSTKVYLDLEWTDYRLSWDPAEHDGIDSLRITAESVWLPDVVLLNNNDGNFDVALDINVVVSFEGSVRWQPPGLYRSSCSIQVTYFPFDWQNCTMVFSSYSYDSSEVSLKTGLDPEGEERQEVYIHEGTFIENGQWEIIHKPSRLIQLPGDQRGGKEGHHEEVIFYLIIRRKPLFYLVNVIAPCILITLLAIFVFYLPPDAGEKMGLSIFALLTLTVFLLLLADKVPETSLAVPIIIKYLMFTMVLVTFSVILSVVVLNLHHRSPHTHQMPFWVRQIFIHKLPPYLGLKRPKPERDQLPEPHHSLSPRSGWGRGTDEYFIRKPPSDFLFPKLNRFQPESSAPDLRRFIDGPTRAVGLPQELREVISSISYMARQLQEQEDHDALKEDWQFVAMVVDRLFLWTFIVFTSVGTLVIFLDATYHLPPPEPFP", "length": 501 }, "evidence": [ { "id": "45921706", "url": "http://www.informatics.jax.org/homology/45921706", "database": "MGI" }, { "id": "P11230", "url": "https://omabrowser.org/oma/group/P11230/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P25109-1", "protein_name": "Acetylcholine receptor subunit beta", "gene_name": "Chrnb1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MALGALLLILGILGTPLAPGARGSEAEGQLLKKLFSDYDSSVRPAQEVGDRVGVSIGLTLAQLISLNEKDEEMSTKVYLDLEWTDYRLSWDPAEHDGIESLRVTAESVWLPDVVLLNNNDGNFDVALDINVVVSFEGSVRWQPPGLYRSSCSIQVTYFPFDWQNCTMVFSSYSYDSSEVSLKTGPDPDGQERQEIYIHEGTFIENGQWEIIHKPSRLIHLPGDRRGGKEGHREEVIFYLIIRRKPLFYLVNVIAPCILITLLAIFVFYLPPDAGEKMGLSIFALLTLTVFLLLLADKVPETSLAVPIIIKYLMFTMILVTFSVILSVVVLNLHHRSPHTHQMPFWVRQIFIHKLPPYLGLKRPKPERDQLPEPHHSFSPRSGWGRGTDEYFIRKPPCDFLFPKLNRFQPESPAPDLRRFIDGPPRAVGLPQELREVISSISYMARQLQEQEDHDALKEDWQFVAMVVDRLFLWTFIVFTSVGTLVIFLDATYHLPPPEPFP", "length": 501 }, "evidence": [ { "id": "45921706", "url": "http://www.informatics.jax.org/homology/45921706", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 11, "go_terms": [ { "name": "monoatomic ion transport", "id": "GO:0006811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006811", "evidence": [ { "database": "UniProtKB", "id": "P11230", "url": "https://www.uniprot.org/uniprot/P11230" } ], "pmid": "" }, { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "P11230", "url": "https://www.uniprot.org/uniprot/P11230" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P11230", "url": "https://www.uniprot.org/uniprot/P11230" } ], "pmid": "" }, { "name": "synaptic transmission, cholinergic", "id": "GO:0007271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007271", "evidence": [ { "database": "UniProtKB", "id": "P11230", "url": "https://www.uniprot.org/uniprot/P11230" } ], "pmid": "" }, { "name": "neuromuscular synaptic transmission", "id": "GO:0007274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007274", "evidence": [ { "database": "UniProtKB", "id": "P11230", "url": "https://www.uniprot.org/uniprot/P11230" } ], "pmid": "" }, { "name": "behavioral response to nicotine", "id": "GO:0035095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035095", "evidence": [ { "database": "UniProtKB", "id": "P11230", "url": "https://www.uniprot.org/uniprot/P11230" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "P11230", "url": "https://www.uniprot.org/uniprot/P11230" } ], "pmid": "" }, { "name": "nervous system process", "id": "GO:0050877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050877", "evidence": [ { "database": "UniProtKB", "id": "P11230", "url": "https://www.uniprot.org/uniprot/P11230" } ], "pmid": "" }, { "name": "postsynaptic membrane organization", "id": "GO:0001941", "url": 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