{ "uniprot_canonical_ac": "P21279-1", "uniprot_ac": "P21279", "uniprot_id": "GNAQ_MOUSE", "mass": { "chemical_mass": 42158.0, "monoisotopic_mass": 42158.0 }, "refseq": { "ac": "NP_032165", "name": "guanine nucleotide-binding protein G(q) subunit alpha", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032165" }, "gene_names": [ { "name": "Gnaq", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P21279", "id": "P21279" }, { "name": "1110005L02Rik; 6230401I02Rik; Dsk1; Dsk10; Galphaq; Gq; GqI", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032165", "id": "NP_032165" }, { "name": "Gnaq", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032165", "id": "NP_032165" } ], "protein_names": [ { "name": "Guanine nucleotide-binding protein G(q) subunit alpha", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P21279" }, { "name": "Guanine nucleotide-binding protein alpha-q", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P21279" }, { "name": "guanine nucleotide-binding protein G(q) subunit alpha", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032165", "id": "NP_032165" } ], "function": [ { "annotation": "Activation of PTH1R alleviates epididymitis and orchitis through Gq and beta-arrestin-1 pathways.", "evidence": [ { "database": "RefSeq", "id": "NP_032165", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032165" }, { "database": "PubMed", "id": "34740971", "url": "https://glygen.org/publication/PubMed/34740971" } ] }, { "annotation": "Developmental expression of the Sturge-Weber syndrome-associated genetic mutation in Gnaq: a formal test of Happle's paradominant inheritance hypothesis.", "evidence": [ { "database": "RefSeq", "id": "NP_032165", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032165" }, { "database": "PubMed", "id": "37098137", "url": "https://glygen.org/publication/PubMed/37098137" } ] }, { "annotation": "Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems (PubMed:9687499). Required for platelet activation (PubMed:9296496). Regulates B-cell selection and survival and is required to prevent B-cell-dependent autoimmunity (PubMed:20624888). Regulates chemotaxis of BM-derived neutrophils and dendritic cells (in vitro) (PubMed:17938235). Transduces FFAR4 signaling in response to long-chain fatty acids (LCFAs) (By similarity). Together with GNA11, required for heart development (PubMed:9687499).", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprot/P21279#function" }, { "database": "PubMed", "id": "20624888", "url": "https://glygen.org/publication/PubMed/20624888" }, { "database": "PubMed", "id": "17938235", "url": "https://glygen.org/publication/PubMed/17938235" }, { "database": "PubMed", "id": "9687499", "url": "https://glygen.org/publication/PubMed/9687499" }, { "database": "PubMed", "id": "9296496", "url": "https://glygen.org/publication/PubMed/9296496" }, { "database": "UniProtKB", "id": "P50148", "url": "https://www.uniprot.org/uniprot/P50148#function" } ] } ], "disease": [ { "disease_id": "DOID:0111529", "recommended_name": { "id": "DOID:0111529", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111529", "name": "familial multiple nevi flammei", "description": "A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover." }, "synonyms": [ { "id": "DOID:0111529", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111529", "name": "CMC", "description": "" }, { "id": "DOID:0111529", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111529", "name": "congenital capillary malformations", "description": "" }, { "id": "DOID:0111529", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111529", "name": "familial multiple port-wine stains", "description": "" }, { "id": "MONDO:0008094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008094", "name": "familial multiple nevi flammei", "description": "A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color." }, { "id": "MONDO:0008094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008094", "name": "Nevus flammeus", "description": "" }, { "id": "MONDO:0008094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008094", "name": "Salmon patch Nevus", "description": "" }, { "id": "MONDO:0008094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008094", "name": "capillary malformations, congenital, 1, somatic, mosaic", "description": "" }, { "id": "MONDO:0008094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008094", "name": "familial multiple port-wine stains", "description": "" }, { "id": "MONDO:0008094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008094", "name": "port wine Nevus", "description": "" }, { "id": "MONDO:0008094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008094", "name": "port wine birthmark", "description": "" }, { "id": "MONDO:0008094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008094", "name": "port wine stain", "description": "" }, { "id": "MONDO:0008094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008094", "name": "port wine stain of skin", "description": "" }, { "id": "MONDO:0008094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008094", "name": "port wine stain of the skin", "description": "" }, { "id": "MONDO:0008094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008094", "name": "port wine type hemangioma", "description": "" }, { "id": "MONDO:0008094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008094", "name": "port-wine stain of skin", "description": "" }, { "id": "MONDO:0008094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008094", "name": "CMC", "description": "" }, { "id": "MONDO:0008094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008094", "name": "capillary malformations", "description": "" }, { "id": "MONDO:0008094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008094", "name": "capillary malformations, congenital", "description": "" }, { "id": "MONDO:0008094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008094", "name": "nevi flammei, familial multiple", "description": "" }, { "id": "MONDO:0008094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008094", "name": "port-wine stain", "description": "" }, { "id": "MONDO:0008094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008094", "name": "port-wine stain familial multiple", "description": "" }, { "id": "MIM:163000", "resource": "MIM", "url": "https://www.omim.org/entry/163000", "name": "Capillary malformations, congenital", "description": "Capillary malformations, congenital" } ], "evidence": [ { "id": "0111529", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111529" } ] }, { "disease_id": "DOID:0111563", "recommended_name": { "id": "DOID:0111563", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111563", "name": "Sturge-Weber syndrome", "description": "A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2." }, "synonyms": [ { "id": "DOID:0111563", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111563", "name": "SWS", "description": "" }, { "id": "DOID:0111563", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111563", "name": "Sturge-Weber-Dimitri syndrome", "description": "" }, { "id": "DOID:0111563", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111563", "name": "Sturge-Weber-Krabbe angiomatosis", "description": "" }, { "id": "DOID:0111563", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111563", "name": "Sturge-Weber-Krabbe syndrome", "description": "" }, { "id": "DOID:0111563", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111563", "name": "encephalofacial angiomatosis", "description": "" }, { "id": "DOID:0111563", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111563", "name": "encephalotrigeminal angiomatosis", "description": "" }, { "id": "DOID:0111563", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111563", "name": "fourth phacomatosis", "description": "" }, { "id": "DOID:0111563", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111563", "name": "leptomeningeal angiomatosis", "description": "" }, { "id": "DOID:0111563", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111563", "name": "meningeal capillary angiomatosis", "description": "" }, { "id": "MONDO:0008501", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008501", "name": "Sturge-Weber syndrome", "description": "Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." }, { "id": "MONDO:0008501", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008501", "name": "Encephalofacial angiomatosis", "description": "" }, { "id": "MONDO:0008501", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008501", "name": "Encephalotrigeminal angiomatosis", "description": "" }, { "id": "MONDO:0008501", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008501", "name": "Encephalotrigeminal syndrome", "description": "" }, { "id": "MONDO:0008501", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008501", "name": "SWS", "description": "" }, { "id": "MONDO:0008501", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008501", "name": "Sturge-Weber disease", "description": "" }, { "id": "MONDO:0008501", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008501", "name": "Sturge-Weber syndrome", "description": "" }, { "id": "MONDO:0008501", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008501", "name": "Sturge-Weber syndrome, somatic, mosaic", "description": "" }, { "id": "MONDO:0008501", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008501", "name": "Sturge-Weber-Dimitri syndrome", "description": "" }, { "id": "MONDO:0008501", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008501", "name": "Sturge-Weber-Krabbe angiomatosis", "description": "" }, { "id": "MONDO:0008501", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008501", "name": "Sturge-Weber-Krabbe syndrome", "description": "" }, { "id": "MONDO:0008501", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008501", "name": "STURGE-WEBER syndrome", "description": "" }, { "id": "MONDO:0008501", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008501", "name": "SWS type I - Facial and leptomeningeal angiomas", "description": "" }, { "id": "MONDO:0008501", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008501", "name": "SWS type II - Facial angioma alone, no CNS involvement", "description": "" }, { "id": "MONDO:0008501", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008501", "name": "SWS type III - isolated leptomeningeal angiomas", "description": "" }, { "id": "MONDO:0008501", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008501", "name": "Sturge Weber syndrome", "description": "" }, { "id": "MONDO:0008501", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008501", "name": "fourth phacomatosis", "description": "" }, { "id": "MONDO:0008501", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008501", "name": "leptomeningeal angiomatosis", "description": "" }, { "id": "MONDO:0008501", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008501", "name": "meningeal capillary angiomatosis", "description": "" }, { "id": "MIM:185300", "resource": "MIM", "url": "https://www.omim.org/entry/185300", "name": "Sturge-Weber syndrome", "description": "Sturge-Weber syndrome" } ], "evidence": [ { "id": "0111563", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111563" } ] }, { "disease_id": "DOID:3908", "recommended_name": { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma." }, "synonyms": [ { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "NSCLC", "description": "" }, { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "Non-small cell lung cancer", "description": "" }, { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "non-small cell lung carcinoma", "description": "" } ], "evidence": [ { "id": "3908", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ] }, { "disease_id": "DOID:6000", "recommended_name": { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body." }, "synonyms": [ { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "CHF", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Cardiac Failure Congestive", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Congestive heart disease", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Weak heart", "description": "" } ], "evidence": [ { "id": "6000", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ] }, { "disease_id": "DOID:9970", "recommended_name": { "id": "DOID:9970", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness." }, "synonyms": [ { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "inherited obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "genetic obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "genetic obesity (disease)", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "leanness, inherited, autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "monogenic obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, association with, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, early-onset, susceptibility to, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, late-onset, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, mild, early-onset, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, severe, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, severe, and type II diabetes, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, susceptibility to, Autosomal recessive", "description": "" }, { "id": "MIM:601665", "resource": "MIM", "url": "https://www.omim.org/entry/601665", "name": "Obesity", "description": "Obesity" } ], "evidence": [ { "id": "9970", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 10, "end_pos": 10, "sequence_org": "C", "sequence_mut": "S", "comment": "Abolishes palmitoylation.", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprot/P21279" }, { "database": "PubMed", "id": "8227063", "url": "https://glygen.org/publication/PubMed/8227063" } ] }, { "start_pos": 9, "end_pos": 9, "sequence_org": "C", "sequence_mut": "S", "comment": "Abolishes palmitoylation.", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprot/P21279" }, { "database": "PubMed", "id": "8227063", "url": "https://glygen.org/publication/PubMed/8227063" } ] } ], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprot/P21279" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Gnaq", "url": "https://www.uniprot.org/uniprot/P21279", "locus": { "chromosome": "19", "start_pos": 16364827, "end_pos": 16110195, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000024639", "url": "https://www.ensembl.org/id/ENSMUSG00000024639" } ] } } ], "crossref": [ { "id": "ENSMUSG00000024639", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000024639", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00066", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00066", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "14682", "url": "https://www.ncbi.nlm.nih.gov/gene/14682", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "P21279", "url": "https://www.ebi.ac.uk/intact/interactors/id:P21279*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000654", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000654", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001019", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001019", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011025", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011025", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027417", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:14682", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:14682", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { 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"https://www.rcsb.org/structure/5DO9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7SQ2", "url": "https://www.rcsb.org/structure/7SQ2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00503", "url": "http://pfam.xfam.org/family/PF00503", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P21279", "url": "http://purl.obolibrary.org/obo/PR_P21279", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-MMU-112043", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-112043", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-202040", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-202040", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-399997", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-399997", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-416476", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-418592", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-418592", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-428930", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-428930", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-434316", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-434316", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-456926", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-456926", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-6814122", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-6814122", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_032165", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032165", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P21279", "url": "https://www.uniprot.org/uniprot/P21279", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P21279-1", "url": "https://www.uniprot.org/uniprot/P21279-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTLESIMACCLSEEAKEARRINDEIERQLRRDKRDARRELKLLLLGTGESGKSTFIKQMRIIHGSGYSDEDKRGFTKLVYQNIFTAMQAMIRAMDTLKIPYKYEHNKAHAQLVREVDVEKVSAFENPYVDAIKSLWNDPGIQECYDRRREYQLSDSTKYYLNDLDRVADPSYLPTQQDVLRVRVPTTGIIEYPFDLQSVIFRMVDVGGQRSERRKWIHCFENVTSIMFLVALSEYDQVLVESDNENRMEESKALFRTIITYPWFQNSSVILFLNKKDLLEEKIMYSHLVDYFPEYDGPQRDAQAAREFILKMFVDLNPDSDKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV", "length": 359, "header": "sp|P21279-1|GNAQ_MOUSE Isoform 1 of Guanine nucleotide-binding protein G(q) subunit alpha OS=Mus musculus OX=10090 GN=Gnaq PE=1 SV=4 CANONICAL=P21279-1" }, "isoforms": [ { "isoform_ac": "P21279-1", "url": "", "sequence": { "sequence": "MTLESIMACCLSEEAKEARRINDEIERQLRRDKRDARRELKLLLLGTGESGKSTFIKQMRIIHGSGYSDEDKRGFTKLVYQNIFTAMQAMIRAMDTLKIPYKYEHNKAHAQLVREVDVEKVSAFENPYVDAIKSLWNDPGIQECYDRRREYQLSDSTKYYLNDLDRVADPSYLPTQQDVLRVRVPTTGIIEYPFDLQSVIFRMVDVGGQRSERRKWIHCFENVTSIMFLVALSEYDQVLVESDNENRMEESKALFRTIITYPWFQNSSVILFLNKKDLLEEKIMYSHLVDYFPEYDGPQRDAQAAREFILKMFVDLNPDSDKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV", "length": 359, "header": "sp|P21279-1|GNAQ_MOUSE Isoform 1 of Guanine nucleotide-binding protein G(q) subunit alpha OS=Mus musculus OX=10090 GN=Gnaq PE=1 SV=4 CANONICAL=P21279-1" }, "locus": { "chromosome": "19", "start_pos": 16360755, "end_pos": 16110690, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000025541", "url": "https://www.ensembl.org/id/ENSMUST00000025541" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000025541", "url": "https://www.ensembl.org/id/ENSMUSP00000025541" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P21279", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P21279" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Identification of an alternative G{alpha}q-dependent chemokine receptor signal transduction pathway in dendritic cells and granulocytes.", "journal": "J. Exp. Med.", "date": "2007", "authors": "Simon M.I., Lee J.J., Shi G., Partida-Sanchez S., Lund F.E., Tighe M., Borchers M.T., Misra R.S.", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprot/P21279" } ], "reference": [ { "type": "PubMed", "id": "17938235", "url": "https://glygen.org/publication/PubMed/17938235" } ] }, { "title": "Nuclear alpha1-adrenergic receptors signal activated ERK localization to caveolae in adult cardiac myocytes.", "journal": "Circ. Res.", "date": "2008", "authors": "Chen Q., Huang Y., Baye N.L., Healy C.L., Kasinathan S., O'Connell T.D., Wright C.D.", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprot/P21279" } ], "reference": [ { "type": "PubMed", "id": "18802028", "url": "https://glygen.org/publication/PubMed/18802028" } ] }, { "title": "Identification of G protein alpha subunit-palmitoylating enzyme.", "journal": "Mol. Cell. Biol.", "date": "2009", "authors": "Tsutsumi R, Fukata Y, Noritake J, Iwanaga T, Perez F, Fukata M", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprot/P21279" } ], "reference": [ { "type": "PubMed", "id": "19001095", "url": "https://glygen.org/publication/PubMed/19001095" } ] }, { "title": "G alpha q-containing G proteins regulate B cell selection and survival and are required to prevent B cell-dependent autoimmunity.", "journal": "J. Exp. Med.", "date": "2010", "authors": "Misra Ravi S, Shi Guixiu, Moreno-Garcia Miguel E, Thankappan Anil, Tighe Michael, Mousseau Betty, Kusser Kim, Becker-Herman Shirly, Hudkins Kelly L, Dunn Robert, Kehry Marilyn R, Migone Thi-Sau, Marshak-Rothstein Ann, Simon Melvin, Randall Troy D, Alpers Charles E, Liggitt Denny, Rawlings David J, Lund Frances E", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprot/P21279" } ], "reference": [ { "type": "PubMed", "id": "20624888", "url": "https://glygen.org/publication/PubMed/20624888" } ] }, { "title": "G protein diversity: a distinct class of alpha subunits is present in vertebrates and invertebrates.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1990", "authors": "Strathmann M, Simon MI", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprot/P21279" } ], "reference": [ { "type": "PubMed", "id": "2123549", "url": "https://glygen.org/publication/PubMed/2123549" } ] }, { "title": "Histaminylation of glutamine residues is a novel posttranslational modification implicated in G-protein signaling.", "journal": "FEBS Lett.", "date": "2012", "authors": "Vowinckel J, Stahlberg S, Paulmann N, Bluemlein K, Grohmann M, Ralser M, Walther DJ", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprot/P21279" } ], "reference": [ { "type": "PubMed", "id": "23022564", "url": "https://glygen.org/publication/PubMed/23022564" } ] }, { "title": "A novel Galphas-binding protein, Gas-2 like 2, facilitates the signaling of the A2A adenosine receptor.", "journal": "Biochim. Biophys. Acta", "date": "2013", "authors": "Wu YC, Lai HL, Chang WC, Lin JT, Liu YJ, Chern Y", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprot/P21279" } ], "reference": [ { "type": "PubMed", "id": "23994616", "url": "https://glygen.org/publication/PubMed/23994616" } ] }, { "title": "O-GlcNAcylation regulates dopamine neuron function, survival and degeneration in Parkinson disease.", "journal": "Brain : a journal of neurology", "date": "2020", "authors": "Lee BE, Kim HY, Kim HJ, Jeong H, Kim BG, Lee HE, Lee J, Kim HB, Lee SE, Yang YR, Yi EC, Hanover JA, Myung K, Suh PG, Kwon T, Kim JI", "evidence": [ { "database": "O-GlcNAc Database", "id": "P21279", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P21279" } ], "reference": [ { "type": "PubMed", "id": "33300544", "url": "https://glygen.org/publication/PubMed/33300544" } ] }, { "title": "Activation of PTH1R alleviates epididymitis and orchitis through Gq and beta-arrestin-1 pathways.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2021", "authors": "Wang MW, Yang Z, Chen X, Zhou SH, Huang GL, Sun JN, Jiang H, Xu WM, Lin HC, Yu X, Sun JP", "evidence": [ { "database": "RefSeq", "id": "NP_032165", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032165" } ], "reference": [ { "type": "PubMed", "id": "34740971", "url": "https://glygen.org/publication/PubMed/34740971" } ] }, { "title": "Developmental expression of the Sturge-Weber syndrome-associated genetic mutation in Gnaq: a formal test of Happle's paradominant inheritance hypothesis.", "journal": "Genetics", "date": "2023-08-09", "authors": "Wetzel-Strong Sarah E, Galeffi Francesca, Benavides Christian, Patrucco Mary, Bullock Jessica L, Gallione Carol J, Lee Han Kyu, Marchuk Douglas A", "evidence": [ { "database": "RefSeq", "id": "NP_032165", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032165" } ], "reference": [ { "type": "PubMed", "id": "37098137", "url": "https://glygen.org/publication/PubMed/37098137" } ] }, { "title": "Palmitoylation is required for signaling functions and membrane attachment of Gq alpha and Gs alpha.", "journal": "J. Biol. Chem.", "date": "1993", "authors": "Wedegaertner PB, Chu DH, Wilson PT, Levis MJ, Bourne HR", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprot/P21279" } ], "reference": [ { "type": "PubMed", "id": "8227063", "url": "https://glygen.org/publication/PubMed/8227063" } ] }, { "title": "Defective platelet activation in G alpha(q)-deficient mice.", "journal": "Nature", "date": "1997", "authors": "Simon M.I., Offermanns S., Hu Y.H., Toombs C.F.", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprot/P21279" } ], "reference": [ { "type": "PubMed", "id": "9296496", "url": "https://glygen.org/publication/PubMed/9296496" } ] }, { "title": "Impaired motor coordination and persistent multiple climbing fiber innervation of cerebellar Purkinje cells in mice lacking Galphaq.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1997", "authors": "Offermanns S, Hashimoto K, Watanabe M, Sun W, Kurihara H, Thompson RF, Inoue Y, Kano M, Simon MI", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprot/P21279" } ], "reference": [ { "type": "PubMed", "id": "9391157", "url": "https://glygen.org/publication/PubMed/9391157" } ] }, { "title": "Embryonic cardiomyocyte hypoplasia and craniofacial defects in G alpha q/G alpha 11-mutant mice.", "journal": "EMBO J.", "date": "1998", "authors": "Simon M.I., Offermanns S., Gohla A., Sarosi I., Zhao L.P., Wilkie T.M.", "evidence": [ { "database": "UniProtKB", "id": "P21279", "url": "https://www.uniprot.org/uniprot/P21279" } ], "reference": [ { "type": "PubMed", "id": "9687499", "url": "https://glygen.org/publication/PubMed/9687499" } ] } ], "pathway": [ { "id": "mmu:14682", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:14682", "resource": "KEGG Pathway" }, { "id": "R-MMU-112043", 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