[ { "uniprot_canonical_ac": "Q5S007-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "length": 2527, "chemical_mass": 286103.0, "gene_names": "LRRK2;PARK8", "protein_name": "Leucine-rich repeat serine/threonine-protein kinase 2", "disease": [ { "disease_id": "DOID:0050890", "name": "synucleinopathy", "description": "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.", "url": "https://disease-ontology.org/term/DOID:0050890", "evidence": [ { "id": "0050890", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050890" } ], "weight": 0.0 }, { "disease_id": "DOID:0060371", "name": "Parkinson's disease 8", "description": "A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12.", "url": "https://disease-ontology.org/term/DOID:0060371", "evidence": [ { "id": "0060371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060371" } ], "weight": 0.0 }, { "disease_id": "DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age.", "url": "https://disease-ontology.org/term/DOID:0060892", "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": 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"name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:9255", "name": "frontotemporal dementia", "description": "A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.", "url": "https://disease-ontology.org/term/DOID:9255", "evidence": [ { "id": "9255", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9255" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of autophagosome assembly", "id": "GO:1902902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902902", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of cell projection organization", "id": "GO:0031344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031344", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of mitochondrial depolarization", "id": "GO:0051900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051900", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of mitochondrial fission", "id": "GO:0090140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090140", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "protein localization to mitochondrion", "id": "GO:0070585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070585", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "positive regulation of synaptic vesicle endocytosis", "id": "GO:1900244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900244", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of ER to Golgi vesicle-mediated transport", "id": "GO:0060628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060628", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of SNARE complex assembly", "id": "GO:0035542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035542", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of locomotion", "id": "GO:0040012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040012", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "positive regulation of microglial cell activation", "id": "GO:1903980", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903980", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "exploration behavior", "id": "GO:0035640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035640", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "negative regulation of neuron projection development", "id": "GO:0010977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010977", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cellular response to dopamine", "id": "GO:1903351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903351", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor production", "id": "GO:0032760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032760", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "negative regulation of GTPase activity", "id": "GO:0034260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034260", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of canonical Wnt signaling pathway", "id": "GO:0060828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060828", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of reactive oxygen species metabolic process", "id": "GO:2000377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000377", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "negative regulation of macroautophagy", "id": "GO:0016242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016242", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cellular response to reactive oxygen species", "id": "GO:0034614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034614", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of dopamine receptor signaling pathway", "id": "GO:0060159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060159", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of dendritic spine morphogenesis", "id": "GO:0061001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061001", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "GTP metabolic process", "id": "GO:0046039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046039", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "locomotory exploration behavior", "id": "GO:0035641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035641", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway", "id": "GO:1901030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901030", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "negative regulation of protein targeting to mitochondrion", "id": "GO:1903215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903215", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of synaptic transmission, glutamatergic", "id": "GO:0051966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051966", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cellular response to manganese ion", "id": "GO:0071287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071287", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "mitochondrion localization", "id": "GO:0051646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051646", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "protein localization to endoplasmic reticulum exit site", "id": "GO:0070973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070973", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "endoplasmic reticulum organization", "id": "GO:0007029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007029", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902236", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "intracellular distribution of mitochondria", "id": "GO:0048312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048312", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "striatum development", "id": "GO:0021756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021756", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "positive regulation of programmed cell death", "id": "GO:0043068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043068", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle endocytosis", "id": "GO:1900242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900242", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "positive regulation of dopamine receptor signaling pathway", "id": "GO:0060161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060161", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "olfactory bulb development", "id": "GO:0021772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021772", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "negative regulation of excitatory postsynaptic potential", "id": "GO:0090394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090394", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "negative regulation of protein processing", "id": "GO:0010955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010955", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of neuron maturation", "id": "GO:0014041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014041", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "tangential migration from the subventricular zone to the olfactory bulb", "id": "GO:0022028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022028", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of kidney size", "id": "GO:0035564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035564", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of lysosomal lumen pH", "id": "GO:0035751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035751", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "neuron projection arborization", "id": "GO:0140058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140058", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "positive regulation of protein autoubiquitination", "id": "GO:1902499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902499", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of neuroblast proliferation", "id": "GO:1902692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902692", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle transport", "id": "GO:1902803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902803", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "negative regulation of late endosome to lysosome transport", "id": "GO:1902823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902823", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "negative regulation of protein processing involved in protein targeting to mitochondrion", "id": "GO:1903217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903217", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "Wnt signalosome assembly", "id": "GO:1904887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904887", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of retrograde transport, endosome to Golgi", "id": "GO:1905279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905279", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of CAMKK-AMPK signaling cascade", "id": "GO:1905289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905289", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of branching morphogenesis of a nerve", "id": "GO:2000172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000172", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle exocytosis", "id": "GO:2000300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000300", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cellular response to curcumin", "id": "GO:1904644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904644", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of cAMP/PKA signal transduction", "id": "GO:0141161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141161", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "negative regulation of motile cilium assembly", "id": "GO:1905504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905504", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of developmental process", "id": "GO:0050793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050793", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of signal transduction", "id": "GO:0009966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009966", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cell communication", "id": "GO:0007154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007154", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "Golgi-associated vesicle", "id": "GO:0005798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005798", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "dendrite cytoplasm", "id": "GO:0032839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032839", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "endoplasmic reticulum exit site", "id": "GO:0070971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070971", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "Wnt signalosome", "id": "GO:1990909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990909", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "Lewy body", "id": "GO:0097413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097413", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "autolysosome", "id": "GO:0044754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044754", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "multivesicular body, internal vesicle", "id": "GO:0097487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097487", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cytoplasmic side of mitochondrial outer membrane", "id": "GO:0032473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032473", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "amphisome", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { 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Loss of interaction with SEC16A and impaired ability to recruit SEC16A to endoplasmic reticulum exit sites.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "25201882", "url": "https://glygen.org/publication/PubMed/25201882" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "1398", "end_pos": "1398", "site_lbl": "Arg1398", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Decreased kinase activity; when associated with G-1343.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "18230735", "url": "https://glygen.org/publication/PubMed/18230735" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "1441", "end_pos": "1441", "site_lbl": "Arg1441", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Decreased membrane association when associated with D-727, D-728, or D-729. 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Inhibits autophosphorylation and RAB10 phosphorylation when associated with N-1348 or A-2017.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "29212815", "url": "https://glygen.org/publication/PubMed/29212815" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "1710", "end_pos": "1710", "site_lbl": "Asn1710", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Impairs RAB29-stimulated kinase activity on RAB10, RAB29 and LRRK2.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "38127736", "url": "https://glygen.org/publication/PubMed/38127736" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "1791", "end_pos": "1791", "site_lbl": "Trp1791", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Impairs RAB29-stimulated kinase activity on RAB10, RAB29 and LRRK2.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "38127736", "url": "https://glygen.org/publication/PubMed/38127736" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "1906", "end_pos": "1906", "site_lbl": "Lys1906", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of kinase activity. 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No effect on kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "30635421", "url": "https://glygen.org/publication/PubMed/30635421" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "2344", "end_pos": "2344", "site_lbl": "Phe2344", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Decreases WD domain homodimerization. No effect on kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "30635421", "url": "https://glygen.org/publication/PubMed/30635421" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "2345", "end_pos": "2345", "site_lbl": "Ser2345", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "D", "comment": "Decreases WD domain homodimerization. No effect on kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "30635421", "url": "https://glygen.org/publication/PubMed/30635421" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "2346", "end_pos": "2346", "site_lbl": "Tyr2346", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Decreases WD domain homodimerization. No effect on kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "30635421", "url": "https://glygen.org/publication/PubMed/30635421" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "2391", "end_pos": "2391", "site_lbl": "His2391", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "D", "comment": "Increases kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "30635421", "url": "https://glygen.org/publication/PubMed/30635421" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "2394", "end_pos": "2394", "site_lbl": "Arg2394", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "E", "comment": "Decreases WD domain homodimerization. Increases kinase activity and autophosphorylation at Ser-1292.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "30635421", "url": "https://glygen.org/publication/PubMed/30635421" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "2395", "end_pos": "2395", "site_lbl": "Glu2395", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "R", "comment": "Decreases WD domain homodimerization. No effect on kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "30635421", "url": "https://glygen.org/publication/PubMed/30635421" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "2408", "end_pos": "2408", "site_lbl": "Met2408", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "A", "comment": "No effect on WD domain homodimerization. No effect on kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "30635421", "url": "https://glygen.org/publication/PubMed/30635421" } ] }, { "sequence_org": "M", "sequence_mut": "E", "comment": "No effect on WD domain homodimerization. No effect on kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "30635421", "url": "https://glygen.org/publication/PubMed/30635421" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "2409", "end_pos": "2409", "site_lbl": "Ser2409", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreases WD domain homodimerization.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "30635421", "url": "https://glygen.org/publication/PubMed/30635421" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Arg399", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "E", "comment": "Reduces membrane localization and abolishes interaction with RAB29/RAB7L1. 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"https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID:305", "name": "carcinoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:305", "evidence": [ { "id": "305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:305" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6V0I7", "url": "https://www.uniprot.org/uniprotkb/Q6V0I7" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q6V0I7", "url": "https://www.uniprot.org/uniprotkb/Q6V0I7" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "Q6V0I7", "url": "https://www.uniprot.org/uniprotkb/Q6V0I7" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0035329", "evidence": [ { "database": "UniProtKB", "id": "Q6V0I7", "url": "https://www.uniprot.org/uniprotkb/Q6V0I7" } ], "pmid": "" }, { "name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "Q6V0I7", "url": "https://www.uniprot.org/uniprotkb/Q6V0I7" } ], "pmid": "" }, { "name": "heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0007157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007157", "evidence": [ { "database": "UniProtKB", "id": "Q6V0I7", "url": "https://www.uniprot.org/uniprotkb/Q6V0I7" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q6V0I7", "url": "https://www.uniprot.org/uniprotkb/Q6V0I7" } ], "pmid": "" }, { "name": "cell-cell 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"id": "Q8WZ42", "url": "https://www.uniprot.org/uniprotkb/Q8WZ42" }, { "database": "PubMed", "id": "9804419", "url": "https://glygen.org/publication/PubMed/9804419" } ] } ] } ], "record_id": "batch.Q8WZ42-1" }, { "uniprot_canonical_ac": "Q92736-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92736", "url": "https://www.uniprot.org/uniprotkb/Q92736" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "length": 4967, "chemical_mass": 564567.0, "gene_names": "RYR2;ARVC2;ARVD2;RYR-2;RYR2;RyR;VACRDS;VTSIP", "protein_name": "Ryanodine receptor 2", "disease": [ { "disease_id": "DOID:0050431", "name": "arrhythmogenic right ventricular cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle.", "url": "https://disease-ontology.org/term/DOID:0050431", "evidence": [ { "id": "0050431", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050431" } ], "weight": 0.0 }, { "disease_id": "DOID:0060674", "name": "catecholaminergic polymorphic ventricular tachycardia", "description": "A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities.", "url": "https://disease-ontology.org/term/DOID:0060674", "evidence": [ { "id": "0060674", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060674" } ], "weight": 0.0 }, { "disease_id": "DOID:0060675", "name": "catecholaminergic polymorphic ventricular tachycardia 1", "description": "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43.", "url": "https://disease-ontology.org/term/DOID:0060675", "evidence": [ { "id": "604772", "database": "MIM", "url": "https://www.omim.org/entry/604772" }, { "id": "0060675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060675" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": 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Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe.", "url": "https://disease-ontology.org/term/DOID:3529", "evidence": [ { "id": "3529", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3529" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:8545", "name": "malignant hyperthermia", "description": "A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine).", "url": "https://disease-ontology.org/term/DOID:8545", "evidence": [ { "id": "8545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8545" } ], "weight": 0.0 }, { "disease_id": "MONDO:0020745", "name": "ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome", "description": "", "url": "https://monarchinitiative.org/disease/MONDO:0020745", "evidence": [ { "id": "115000", "database": "MIM", "url": "https://www.omim.org/entry/115000" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protein kinase A catalytic subunit binding", "id": "GO:0034236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034236", "evidence": [ { "database": "UniProtKB", "id": "Q92736", "url": "https://www.uniprot.org/uniprotkb/Q92736" } ], "pmid": "" }, { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "Q92736", "url": "https://www.uniprot.org/uniprotkb/Q92736" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q92736", "url": "https://www.uniprot.org/uniprotkb/Q92736" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q92736", "url": "https://www.uniprot.org/uniprotkb/Q92736" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q92736", "url": "https://www.uniprot.org/uniprotkb/Q92736" } ], 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reticulum membrane", "id": "GO:0014701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014701", "evidence": [ { "database": "UniProtKB", "id": "Q92736", "url": "https://www.uniprot.org/uniprotkb/Q92736" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum", "id": "GO:0016529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016529", "evidence": [ { "database": "UniProtKB", "id": "Q92736", "url": "https://www.uniprot.org/uniprotkb/Q92736" } ], "pmid": "" }, { "name": "calcium channel complex", "id": "GO:0034704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034704", "evidence": [ { "database": "UniProtKB", "id": "Q92736", "url": "https://www.uniprot.org/uniprotkb/Q92736" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum membrane", "id": "GO:0033017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033017", "evidence": [ { "database": "UniProtKB", "id": "Q92736", "url": "https://www.uniprot.org/uniprotkb/Q92736" } ], "pmid": "" }, { "name": "protein-containing complex", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q92736", "url": "https://www.uniprot.org/uniprotkb/Q92736" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q92736", "url": "https://www.uniprot.org/uniprotkb/Q92736" } ], "pmid": "" }, { "name": "response to caffeine", "id": "GO:0031000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031000", "evidence": [ { "database": "UniProtKB", "id": "Q92736", "url": "https://www.uniprot.org/uniprotkb/Q92736" } ], "pmid": "" }, { "name": "regulation of cytosolic calcium ion concentration", "id": "GO:0051480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051480", "evidence": [ { "database": "UniProtKB", "id": "Q92736", "url": "https://www.uniprot.org/uniprotkb/Q92736" } ], "pmid": "" }, { "name": "positive regulation of heart rate", "id": "GO:0010460", 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