{ "uniprot_canonical_ac": "P02708-2", "uniprot_ac": "P02708", "uniprot_id": "ACHA_HUMAN", "mass": { "chemical_mass": 51839.0, "monoisotopic_mass": 51839.0 }, "refseq": { "ac": "NP_000070", "name": "acetylcholine receptor subunit alpha isoform b precursor", "summary": "The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000070" }, "gene_names": [ { "name": "CHRNA1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P02708", "id": "P02708" }, { "name": "ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A; FCCMS; SCCMS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000070", "id": "NP_000070" }, { "name": "ACHRA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P02708", "id": "P02708" }, { "name": "CHNRA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P02708", "id": "P02708" }, { "name": "CHRNA1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000070", "id": "NP_000070" } ], "protein_names": [ { "name": "Acetylcholine receptor subunit alpha", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P02708" }, { "name": "acetylcholine receptor subunit alpha isoform b precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000070", "id": "NP_000070" }, { "name": "cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle); cholinergic receptor, nicotinic alpha 1; nicotinic cholinergic receptor alpha 1; acetylcholine receptor subunit alpha; nicotinic acetylcholine receptor alpha subunit; muscle nicotinic acetylcholine receptor; acetylcholine receptor, nicotinic, alpha 1 (muscle); cholinergic receptor, nicotinic, alpha 1 (muscle)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000070", "id": "NP_000070" } ], "function": [ { "annotation": "CHRNA1 promotes the pathogenesis of primary focal hyperhidrosis.", "evidence": [ { "database": "RefSeq", "id": "NP_000070", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000070" }, { "database": "PubMed", "id": "33476802", "url": "https://glygen.org/publication/PubMed/33476802" } ] }, { "annotation": "In our analysis, we found one pair of SNPs in CHRNA1 and CHRNA7, plus one pair of SNPs in CHRNA2 and CHRNA3 reached corrected significance in tests for GxG interaction. Our study suggested evidence of interactions between CHRNs in controlling the risk of NSCL/P.", "evidence": [ { "database": "RefSeq", "id": "NP_000070", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000070" }, { "database": "PubMed", "id": "29688589", "url": "https://glygen.org/publication/PubMed/29688589" } ] }, { "annotation": "Non functional acetylcholine receptor alpha subunit which is not integrated into functional acetylcholine-gated cation-selective channels.", "evidence": [ { "database": "UniProtKB", "id": "P02708", "url": "https://www.uniprot.org/uniprot/P02708#function" }, { "database": "PubMed", "id": "8788941", "url": "https://glygen.org/publication/PubMed/8788941" } ] }, { "annotation": "Point Mutations of Nicotinic Receptor alpha1 Subunit Reveal New Molecular Features of G153S Slow-Channel Myasthenia. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000070", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000070" }, { "database": "PubMed", "id": "33652901", "url": "https://glygen.org/publication/PubMed/33652901" } ] }, { "annotation": "Serum AChR alpha1 subunit protein concentrations were higher in patients with ant-AChR antibody-positive myasthenia gravis than those in controls.", "evidence": [ { "database": "RefSeq", "id": "NP_000070", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000070" }, { "database": "PubMed", "id": "31855720", "url": "https://glygen.org/publication/PubMed/31855720" } ] }, { "annotation": "The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_000070", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000070" } ] }, { "annotation": "Upon acetylcholine binding, 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": "P02708", "url": "https://www.uniprot.org/uniprot/P02708#function" }, { "database": "PubMed", "id": "27375219", "url": "https://glygen.org/publication/PubMed/27375219" } ] } ], "disease": [ { "disease_id": "DOID:0080110", "recommended_name": { "id": "DOID:0080110", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080110", "name": "contractures, pterygia, and spondylocarpotarsal fusion syndrome", "description": "A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits." }, "synonyms": [ { "id": "DOID:0080110", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080110", "name": "multiple pterygium syndrome", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "autosomal recessive multiple pterygium syndrome", "description": "A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant." }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "EVMPS", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "Escobar syndrome", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "Escobar variant multiple pterygium syndrome", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "autosomal recessive multiple pterygium syndrome", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "autosomal recessive non-lethal multiple pterygium syndrome", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "multiple pterygium syndrome, autosomal recessive", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "multiple pterygium syndrome", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "multiple pterygium syndrome Escobar type", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "multiple pterygium syndrome nonlethal type", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "multiple pterygium syndrome, ESCOBAR variant", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "multiple pterygium syndrome, Nonlethal type", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "pterygium Universale", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "pterygium colli syndrome", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "pterygium syndrome", "description": "" }, { "id": "MONDO:0009926", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "name": "pterygium universale", "description": "" }, { "id": "MONDO:0010716", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010716", "name": "X-linked lethal multiple pterygium syndrome", "description": "X-linked form of lethal multiple pterygium syndrome." }, { "id": "MONDO:0010716", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010716", "name": "lethal multiple pterygium syndrome, X-linked", "description": "" }, { "id": "MONDO:0010716", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010716", "name": "multiple pterygium syndrome X-linked", "description": "" }, { "id": "MONDO:0010716", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010716", "name": "multiple pterygium syndrome, X-linked", "description": "" }, { "id": "MONDO:0010716", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010716", "name": "pterygium syndrome multiple X-linked", "description": "" }, { "id": "MONDO:0010716", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010716", "name": "pterygium syndrome, multiple, X-linked", "description": "" }, { "id": "MONDO:0009668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009668", "name": "lethal multiple pterygium syndrome", "description": "Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition." }, { "id": "MONDO:0009668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009668", "name": "LMPS", "description": "" }, { "id": "MONDO:0009668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009668", "name": "autosomal recessive lethal multiple pterygium syndrome", "description": "" }, { "id": "MONDO:0009668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009668", "name": "lethal multiple pterygium syndrome", "description": "" }, { "id": "MONDO:0009668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009668", "name": "multiple pterygium syndrome lethal type", "description": "" }, { "id": "MONDO:0009668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009668", "name": "multiple pterygium syndrome, lethal type", "description": "" }, { "id": "MONDO:0009668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009668", "name": "pterygium syndrome multiple lethal type", "description": "" }, { "id": "MONDO:0009668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009668", "name": "pterygium syndrome, multiple, lethal type", "description": "" }, { "id": "MONDO:0008338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008338", "name": "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A", "description": "" }, { "id": "MONDO:0008338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008338", "name": "contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A", "description": "" }, { "id": "MONDO:0008338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008338", "name": "distal arthrogryposis type 8", "description": "" }, { "id": "MONDO:0008338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008338", "name": "multiple pterygium syndrome, autosomal dominant", "description": "" }, { "id": "MONDO:0008338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008338", "name": "DA8", "description": "" }, { "id": "MONDO:0008338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008338", "name": "arthrogryposis, distal, type 8", "description": "" }, { "id": "MONDO:0008338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008338", "name": "pterygium syndrome, multiple, autosomal dominant", "description": "" }, { "id": "MIM:265000", "resource": "MIM", "url": "https://www.omim.org/entry/265000", "name": "Multiple pterygium syndrome, Escobar variant", "description": "Multiple pterygium syndrome, Escobar variant" }, { "id": "MIM:253290", "resource": "MIM", "url": "https://www.omim.org/entry/253290", "name": "Multiple pterygium syndrome, lethal type", "description": "Multiple pterygium syndrome, lethal type" }, { "id": "MIM:178110", "resource": "MIM", "url": "https://www.omim.org/entry/178110", "name": "Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A", "description": "Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A" } ], "evidence": [ { "id": "253290", "database": "MIM", "url": "https://www.omim.org/entry/253290" } ] }, { "disease_id": "DOID:0110662", "recommended_name": { "id": "DOID:0110662", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110662", "name": "congenital myasthenic syndrome 1B", "description": "A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q." }, "synonyms": [ { "id": "DOID:0110662", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110662", "name": "CMS1B", "description": "" }, { "id": "DOID:0110662", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110662", "name": "congenital myasthenic syndrome 1B, fast-channel", "description": "" }, { "id": "MONDO:0012156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012156", "name": "myasthenic syndrome, congenital, 1B, fast-channel", "description": "A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q." }, { "id": "MONDO:0012156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012156", "name": "CMS1B", "description": "" }, { "id": "MONDO:0012156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012156", "name": "congenital myasthenic syndrome 1B, fast-channel", "description": "" }, { "id": "MONDO:0012156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012156", "name": "congenital myasthenic syndrome type 1B", "description": "" }, { "id": "MONDO:0012156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012156", "name": "myasthenic syndrome, congenital, 1B, fast-channel", "description": "" }, { "id": "MONDO:0012156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012156", "name": "congenital myasthenic syndrome 1B", "description": "" }, { "id": "MONDO:0012156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012156", "name": "myasthenic syndrome, congenital, 1B, FAST-channel", "description": "" }, { "id": "MIM:608930", "resource": "MIM", "url": "https://www.omim.org/entry/608930", "name": "Myasthenic syndrome, congenital, 1B, fast-channel", "description": "Myasthenic syndrome, congenital, 1B, fast-channel" } ], "evidence": [ { "id": "608930", "database": "MIM", "url": "https://www.omim.org/entry/608930" } ] }, { "disease_id": "DOID:0110663", "recommended_name": { "id": "DOID:0110663", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110663", "name": "congenital myasthenic syndrome 1A", "description": "A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q." }, "synonyms": [ { "id": "DOID:0110663", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110663", "name": "CMS IIa", "description": "" }, { "id": "DOID:0110663", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110663", "name": "CMS1A", "description": "" }, { "id": "DOID:0110663", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110663", "name": "congenital myasthenic syndrome 1A, slow-channel", "description": "" }, { "id": "DOID:0110663", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110663", "name": "congenital myasthenic syndrome type IIa", "description": "" }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "congenital myasthenic syndrome 1A", "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene." }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "CHRNA1 congenital myasthenic syndrome", "description": "" }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "CMS IIa", "description": "" }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "CMS1A", "description": "" }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "congenital myasthenic syndrome 1A, slow-channel", "description": "" }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "congenital myasthenic syndrome caused by mutation in CHRNA1", "description": "" }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "congenital myasthenic syndrome type 1A", "description": "" }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "congenital myasthenic syndrome type IIa", "description": "" }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "Cms IIa", "description": "" }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "Cms IIa, formerly", "description": "" }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "myasthenic syndrome, congenital, 1A, slow-channel", "description": "" }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "myasthenic syndrome, congenital, type IIa", "description": "" }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "myasthenic syndrome, congenital, type IIa, formerly", "description": "" }, { "id": "MIM:601462", "resource": "MIM", "url": "https://www.omim.org/entry/601462", "name": "Myasthenic syndrome, congenital, 1A, slow-channel", "description": "Myasthenic syndrome, congenital, 1A, slow-channel" } ], "evidence": [ { "id": "601462", "database": "MIM", "url": "https://www.omim.org/entry/601462" } ] }, { "disease_id": "DOID:3635", "recommended_name": { "id": "DOID:3635", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3635", "name": "congenital myasthenic syndrome", "description": "A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic)." }, "synonyms": [ { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "congenital myasthenic syndrome 1A", "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene." }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "CHRNA1 congenital myasthenic syndrome", "description": "" }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "CMS IIa", "description": "" }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "CMS1A", "description": "" }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "congenital myasthenic syndrome 1A, slow-channel", "description": "" }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "congenital myasthenic syndrome caused by mutation in CHRNA1", "description": "" }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "congenital myasthenic syndrome type 1A", "description": "" }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "congenital myasthenic syndrome type IIa", "description": "" }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "Cms IIa", "description": "" }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "Cms IIa, formerly", "description": "" }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "myasthenic syndrome, congenital, 1A, slow-channel", "description": "" }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "myasthenic syndrome, congenital, type IIa", "description": "" }, { "id": "MONDO:0011088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011088", "name": "myasthenic syndrome, congenital, type IIa, formerly", "description": "" }, { "id": "MIM:601462", "resource": "MIM", "url": "https://www.omim.org/entry/601462", "name": "Myasthenic syndrome, congenital, 1A, slow-channel", "description": "Myasthenic syndrome, congenital, 1A, slow-channel" } ], "evidence": [ { "id": "601462", "database": "MIM", "url": "https://www.omim.org/entry/601462" } ] }, { "disease_id": "DOID:437", "recommended_name": { "id": "DOID:437", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:437", "name": "myasthenia gravis", "description": "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath." }, "synonyms": [ { "id": "MONDO:0009688", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009688", "name": "myasthenia gravis", "description": "Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of 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"https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "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": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P02708", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02708" } ], "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": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P02708", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02708" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "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 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Classification" ] }, { "id": "PF02932", "url": "http://pfam.xfam.org/family/PF02932", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P02708", "url": "https://pharos.nih.gov/targets/P02708", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P02708", "url": "http://purl.obolibrary.org/obo/PR_P02708", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-629594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-629594", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-629597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-629597", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000070", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000070", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P02708", "url": "https://www.uniprot.org/uniprot/P02708", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02708-1", "url": "https://www.uniprot.org/uniprot/P02708-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02708-2", "url": "https://www.uniprot.org/uniprot/P02708-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEPWPLLLLFSLCSAGLVLGSEHETRLVAKLFKDYSSVVRPVEDHRQVVEVTVGLQLIQLINVDEVNQIVTTNVRLKQQWVDYNLKWNPDDYGGVKKIHIPSEKIWRPDLVLYNNADGDFAIVKFTKVLLQYTGHITWTPPAIFKSYCEIIVTHFPFDEQNCSMKLGTWTYDGSVVAINPESDQPDLSNFMESGEWVIKESRGWKHSVTYSCCPDTPYLDITYHFVMQRLPLYFIVNVIIPCLLFSFLTGLVFYLPTDSGEKMTLSISVLLSLTVFLLVIVELIPSTSSAVPLIGKYMLFTMVFVIASIIITVIVINTHHRSPSTHVMPNWVRKVFIDTIPNIMFFSTMKRPSREKQDKKIFTEDIDISDISGKPGPPPMGFHSPLIKHPEVKSAIEGIKYIAETMKSDQESNNAAAEWKYVAMVMDHILLGVFMLVCIIGTLAVFAGRLIELNQQG", "length": 457, "header": "sp|P02708-2|ACHA_HUMAN Isoform 2 of Acetylcholine receptor subunit alpha OS=Homo sapiens OX=9606 GN=CHRNA1 PE=1 SV=3 CANONICAL=P02708-2" }, "isoforms": [ { "isoform_ac": "P02708-1", "url": "", "sequence": { "sequence": "MEPWPLLLLFSLCSAGLVLGSEHETRLVAKLFKDYSSVVRPVEDHRQVVEVTVGLQLIQLINVDEVNQIVTTNVRLKQGDMVDLPRPSCVTLGVPLFSHLQNEQWVDYNLKWNPDDYGGVKKIHIPSEKIWRPDLVLYNNADGDFAIVKFTKVLLQYTGHITWTPPAIFKSYCEIIVTHFPFDEQNCSMKLGTWTYDGSVVAINPESDQPDLSNFMESGEWVIKESRGWKHSVTYSCCPDTPYLDITYHFVMQRLPLYFIVNVIIPCLLFSFLTGLVFYLPTDSGEKMTLSISVLLSLTVFLLVIVELIPSTSSAVPLIGKYMLFTMVFVIASIIITVIVINTHHRSPSTHVMPNWVRKVFIDTIPNIMFFSTMKRPSREKQDKKIFTEDIDISDISGKPGPPPMGFHSPLIKHPEVKSAIEGIKYIAETMKSDQESNNAAAEWKYVAMVMDHILLGVFMLVCIIGTLAVFAGRLIELNQQG", "length": 482, "header": "sp|P02708-1|ACHA_HUMAN Isoform 1 of Acetylcholine receptor subunit alpha OS=Homo sapiens OX=9606 GN=CHRNA1 PE=1 SV=3 CANONICAL=P02708-2" }, "locus": { "chromosome": "2", "start_pos": 174764394, "end_pos": 174748127, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000261007.9", "url": "https://www.ensembl.org/id/ENST00000261007.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000261007.5", "url": "https://www.ensembl.org/id/ENSP00000261007.5" } ] } }, { "isoform_ac": "P02708-2", "url": "", "sequence": { "sequence": "MEPWPLLLLFSLCSAGLVLGSEHETRLVAKLFKDYSSVVRPVEDHRQVVEVTVGLQLIQLINVDEVNQIVTTNVRLKQQWVDYNLKWNPDDYGGVKKIHIPSEKIWRPDLVLYNNADGDFAIVKFTKVLLQYTGHITWTPPAIFKSYCEIIVTHFPFDEQNCSMKLGTWTYDGSVVAINPESDQPDLSNFMESGEWVIKESRGWKHSVTYSCCPDTPYLDITYHFVMQRLPLYFIVNVIIPCLLFSFLTGLVFYLPTDSGEKMTLSISVLLSLTVFLLVIVELIPSTSSAVPLIGKYMLFTMVFVIASIIITVIVINTHHRSPSTHVMPNWVRKVFIDTIPNIMFFSTMKRPSREKQDKKIFTEDIDISDISGKPGPPPMGFHSPLIKHPEVKSAIEGIKYIAETMKSDQESNNAAAEWKYVAMVMDHILLGVFMLVCIIGTLAVFAGRLIELNQQG", "length": 457, "header": "sp|P02708-2|ACHA_HUMAN Isoform 2 of Acetylcholine receptor subunit alpha OS=Homo sapiens OX=9606 GN=CHRNA1 PE=1 SV=3 CANONICAL=P02708-2" }, "locus": { "chromosome": "2", "start_pos": 174764394, "end_pos": 174748127, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000348749.9", "url": "https://www.ensembl.org/id/ENST00000348749.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000261008.5", "url": "https://www.ensembl.org/id/ENSP00000261008.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 161, "start_aa": "Asn", "end_pos": 161, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn161", "evidence": [ { "id": "P02708", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02708#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating.", "journal": "Nature neuroscience", "date": "1999", "authors": "Wang HL, Milone M, Ohno K, Shen XM, Tsujino A, Batocchi AP, Tonali P, Brengman J, Engel AG, Sine SM", "evidence": [ { "database": "UniProtKB", "id": "P02708", "url": "https://www.uniprot.org/uniprot/P02708" } ], "reference": [ { "type": "PubMed", "id": "10195214", "url": "https://glygen.org/publication/PubMed/10195214" } ] }, { "title": "Evidence that nicotinic alpha(7) receptors are not involved in the hyperlocomotor and rewarding effects of nicotine.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2000", "authors": "Grottick AJ, Trube G, Corrigall WA, Huwyler J, Malherbe P, Wyler R, Higgins GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-629597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-629597" } ], "reference": [ { "type": "PubMed", "id": "10945867", "url": "https://glygen.org/publication/PubMed/10945867" } ] }, { "title": "Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.", "journal": "The Journal of clinical investigation", "date": "2003", "authors": "Shen XM, Ohno K, Tsujino A, Brengman JM, Gingold M, Sine SM, Engel AG", "evidence": [ { "database": "UniProtKB", "id": "P02708", "url": "https://www.uniprot.org/uniprot/P02708" } ], "reference": [ { "type": "PubMed", "id": "12588888", "url": "https://glygen.org/publication/PubMed/12588888" } ] }, { "title": "Fractional Ca(2+) current through human neuronal alpha7 nicotinic acetylcholine receptors.", "journal": "Cell calcium", "date": "2003", "authors": "Fucile S, Renzi M, Lax P, Eusebi F", "evidence": [ { "database": "Reactome", "id": "R-HSA-629597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-629597" } ], "reference": [ { "type": "PubMed", "id": "12810063", "url": "https://glygen.org/publication/PubMed/12810063" } ] }, { "title": "Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.", "journal": "Neurology", "date": "2004", "authors": "Webster R, Brydson M, Croxen R, Newsom-Davis J, Vincent A, Beeson D", "evidence": [ { "database": "UniProtKB", "id": "P02708", "url": "https://www.uniprot.org/uniprot/P02708" } ], "reference": [ { "type": "PubMed", "id": "15079006", "url": "https://glygen.org/publication/PubMed/15079006" } ] }, { "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": "P02708", "url": "https://www.uniprot.org/uniprot/P02708" } ], "reference": [ { "type": "PubMed", "id": "15609996", "url": "https://glygen.org/publication/PubMed/15609996" } ] }, { "title": "Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown.", "journal": "Annals of neurology", "date": "2006", "authors": "Shen XM, Deymeer F, Sine SM, Engel AG", "evidence": [ { "database": "UniProtKB", "id": "P02708", "url": "https://www.uniprot.org/uniprot/P02708" } ], "reference": [ { "type": "PubMed", "id": "16685696", "url": "https://glygen.org/publication/PubMed/16685696" } ] }, { "title": "The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon.", "journal": "EMBO J.", "date": "1990", "authors": "Beeson D, Morris A, Vincent A, Newsom-Davis J", "evidence": [ { "database": "UniProtKB", "id": "P02708", "url": "https://www.uniprot.org/uniprot/P02708" } ], "reference": [ { "type": "PubMed", "id": "1694127", "url": "https://glygen.org/publication/PubMed/1694127" } ] }, { "title": "Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.", "journal": "American journal of human genetics", "date": "2008", "authors": "Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Korber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K", "evidence": [ { "database": "UniProtKB", "id": "P02708", "url": "https://www.uniprot.org/uniprot/P02708" } ], "reference": [ { "type": "PubMed", "id": "18252226", "url": "https://glygen.org/publication/PubMed/18252226" } ] }, { "title": "Design and expression of human alpha7 nicotinic acetylcholine receptor extracellular domain mutants with enhanced solubility and ligand-binding properties.", "journal": "Biochimica et biophysica acta", "date": "2009", "authors": "Zouridakis M, Zisimopoulou P, Eliopoulos E, Poulas K, Tzartos SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-629594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-629594" } ], "reference": [ { "type": "PubMed", "id": "19059502", "url": "https://glygen.org/publication/PubMed/19059502" } ] }, { "title": "Amphipathic segment of the nicotinic receptor alpha subunit contains epitopes recognized by T lymphocytes in myasthenia gravis.", "journal": "J. Clin. Invest.", "date": "1988", "authors": "Hohlfeld R, Toyka K V, Miner L L, Walgrave S L, Conti-Tronconi B M", "evidence": [ { "database": "UniProtKB", "id": "P02708", "url": "https://www.uniprot.org/uniprot/P02708" } ], "reference": [ { "type": "PubMed", "id": "2449458", "url": "https://glygen.org/publication/PubMed/2449458" } ] }, { "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": "P02708", "url": "https://www.uniprot.org/uniprot/P02708" } ], "reference": [ { "type": "PubMed", "id": "27375219", "url": "https://glygen.org/publication/PubMed/27375219" } ] }, { "title": "Evaluating the effect of nicotinic cholinergic receptor genes on the risk of nonsyndromic cleft lip with or without cleft palate.", "journal": "Oral diseases", "date": "2018", "authors": "Wang M, Liu D, Schwender H, Wang H, Wang P, Zhou Z, Li J, Wu T, Zhu H, Beaty TH", "evidence": [ { "database": "RefSeq", "id": "NP_000070", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000070" } ], "reference": [ { "type": "PubMed", "id": "29688589", "url": "https://glygen.org/publication/PubMed/29688589" } ] }, { "title": "Increased serum acetylcholine receptor alpha1 subunit protein in anti-acetylcholine receptor antibody-positive myasthenia gravis.", "journal": "Journal of neuroimmunology", "date": "2020", "authors": "Uzawa A, Ozawa Y, Yasuda M, Oda F, Kojima Y, Kawaguchi N, Kanai T, Himuro K, Kuwabara S", "evidence": [ { "database": "RefSeq", "id": "NP_000070", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000070" } ], "reference": [ { "type": "PubMed", "id": "31855720", "url": "https://glygen.org/publication/PubMed/31855720" } ] }, { "title": "The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA.", "journal": "FEBS Lett.", "date": "1988", "authors": "Schoepfer R, Luther M, Lindstrom J", "evidence": [ { "database": "UniProtKB", "id": "P02708", "url": "https://www.uniprot.org/uniprot/P02708" } ], "reference": [ { "type": "PubMed", "id": "3338555", "url": "https://glygen.org/publication/PubMed/3338555" } ] }, { "title": "CHRNA1 promotes the pathogenesis of primary focal hyperhidrosis.", "journal": "Molecular and cellular neurosciences", "date": "2021", "authors": "Lin JB, Kang MQ, Huang LP, Zhuo Y, Li X, Lai FC", "evidence": [ { "database": "RefSeq", "id": "NP_000070", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000070" } ], "reference": [ { "type": "PubMed", "id": "33476802", "url": "https://glygen.org/publication/PubMed/33476802" } ] }, { "title": "Point Mutations of Nicotinic Receptor alpha1 Subunit Reveal New Molecular Features of G153S Slow-Channel Myasthenia.", "journal": "Molecules (Basel, Switzerland)", "date": "2021", "authors": "Kudryavtsev D, Isaeva A, Barkova D, Spirova E, Mukhutdinova R, Kasheverov I, Tsetlin V", "evidence": [ { "database": "RefSeq", "id": "NP_000070", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000070" } ], "reference": [ { "type": "PubMed", "id": "33652901", "url": "https://glygen.org/publication/PubMed/33652901" } ] }, { "title": "Cloning and sequence analysis of calf cDNA and human genomic DNA encoding alpha-subunit precursor of muscle acetylcholine receptor.", "journal": "Nature", "date": "1983", "authors": "Noda M, Furutani Y, Takahashi H, Toyosato M, Tanabe T, Shimizu S, Kikyotani S, Kayano T, Hirose T, Inayama S", "evidence": [ { "database": "UniProtKB", "id": "P02708", "url": "https://www.uniprot.org/uniprot/P02708" } ], "reference": [ { "type": "PubMed", "id": "6688857", "url": "https://glygen.org/publication/PubMed/6688857" } ] }, { "title": "Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding 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