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"https://www.ebi.ac.uk/QuickGO/term/GO:0035771", "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprotkb/P16382" } ], "pmid": "" }, { "name": "positive regulation of macrophage activation", "id": "GO:0043032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043032", "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprotkb/P16382" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprotkb/P16382" } ], "pmid": "" }, { "name": "production of molecular mediator involved in inflammatory response", "id": "GO:0002532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002532", "evidence": [ { "database": "UniProtKB", "id": "P16382", "url": "https://www.uniprot.org/uniprotkb/P16382" } ], "pmid": "" }, { "name": 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"https://www.uniprot.org/uniprotkb/P61372" } ], "pmid": "" }, { "name": "pancreas development", "id": "GO:0031016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031016", "evidence": [ { "database": "UniProtKB", "id": "P61372", "url": "https://www.uniprot.org/uniprotkb/P61372" } ], "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": "P61372", "url": "https://www.uniprot.org/uniprotkb/P61372" } ], "pmid": "" }, { "name": "spinal cord motor neuron differentiation", "id": "GO:0021522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021522", "evidence": [ { "database": "UniProtKB", "id": "P61372", "url": "https://www.uniprot.org/uniprotkb/P61372" } ], "pmid": "" }, { "name": "endocardial cushion morphogenesis", "id": "GO:0003203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003203", "evidence": [ { "database": "UniProtKB", "id": "P61372", "url": "https://www.uniprot.org/uniprotkb/P61372" } ], "pmid": "" }, { "name": "negative regulation of protein-containing complex assembly", "id": "GO:0031333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031333", "evidence": [ { "database": "UniProtKB", "id": "P61372", "url": "https://www.uniprot.org/uniprotkb/P61372" } ], "pmid": "" }, { "name": "positive regulation of type II interferon production", "id": "GO:0032729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032729", "evidence": [ { "database": "UniProtKB", "id": "P61372", "url": "https://www.uniprot.org/uniprotkb/P61372" } ], "pmid": "" }, { "name": "cellular response to transforming growth factor beta stimulus", "id": "GO:0071560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071560", "evidence": [ { "database": "UniProtKB", "id": "P61372", "url": "https://www.uniprot.org/uniprotkb/P61372" } ], "pmid": "" }, { "name": "trigeminal nerve development", "id": "GO:0021559", "url": 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"P61372", "url": "https://www.uniprot.org/uniprotkb/P61372" } ], "pmid": "" }, { "name": "retinal ganglion cell axon guidance", "id": "GO:0031290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031290", "evidence": [ { "database": "UniProtKB", "id": "P61372", "url": "https://www.uniprot.org/uniprotkb/P61372" } ], "pmid": "" }, { "name": "mesenchymal cell differentiation", "id": "GO:0048762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048762", "evidence": [ { "database": "UniProtKB", "id": "P61372", "url": "https://www.uniprot.org/uniprotkb/P61372" } ], "pmid": "" }, { "name": "outflow tract septum morphogenesis", "id": "GO:0003148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003148", "evidence": [ { "database": "UniProtKB", "id": "P61372", "url": "https://www.uniprot.org/uniprotkb/P61372" } ], "pmid": "" }, { "name": "cardiac right ventricle morphogenesis", "id": "GO:0003215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003215", "evidence": [ { "database": "UniProtKB", 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"name": "negative regulation of mesenchymal cell proliferation", "id": "GO:0072201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072201", "evidence": [ { "database": "UniProtKB", "id": "P61372", "url": "https://www.uniprot.org/uniprotkb/P61372" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P61372", "url": "https://www.uniprot.org/uniprotkb/P61372" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P61372", "url": "https://www.uniprot.org/uniprotkb/P61372" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P61372", "url": "https://www.uniprot.org/uniprotkb/P61372" } ], "pmid": "" }, { "name": 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"species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q03717", "url": "https://www.uniprot.org/uniprotkb/Q03717" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 857, "chemical_mass": 95591.0, "gene_names": "Kcnb1;Kcnb1;Kcr1-1;Kv2.1;Shab", "protein_name": "Potassium voltage-gated channel subfamily B member 1", "disease": [ { "disease_id": "DOID:0080461", "name": "developmental and epileptic encephalopathy 26", "description": "A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13.", "url": "https://disease-ontology.org/term/DOID:0080461", "evidence": [ { "id": "0080461", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080461" } ], "weight": 0.0 }, { "disease_id": "DOID:0112202", "name": "developmental and epileptic encephalopathy", "description": "An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood.", "url": "https://disease-ontology.org/term/DOID:0112202", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": 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"database": "iPTMnet", "id": "Q6NZK5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NZK5" } ] } ] }, { "uniprot_canonical_ac": "Q6NZK5-1", "start_pos": "527", "end_pos": "527", "site_lbl": "Ser527", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NZK5", "url": "https://www.uniprot.org/uniprotkb/Q6NZK5" } ] } ] }, { "uniprot_canonical_ac": "Q6NZK5-1", "start_pos": "558", "end_pos": "558", "site_lbl": "Ser558", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NZK5", "url": "https://www.uniprot.org/uniprotkb/Q6NZK5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6NZK5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NZK5" } ] } ] }, { "uniprot_canonical_ac": "Q6NZK5-1", "start_pos": "416", "end_pos": "416", "site_lbl": "Leu416", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NWL->NWS).", "chr_id": "18", "chr_pos": "25532985", "evidence": [ { "id": "rs238691590", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238691590" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q6VV64-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 394, "chemical_mass": 44403.0, "gene_names": "Kcnk18;Gm781;Kcnk18;Tresk-2;Tresk2;Tresk;Trik", "protein_name": "Potassium channel subfamily K member 18", "disease": [ { "disease_id": "DOID:10273", "name": "heart conduction disease", "description": "A cardiovascular system disease that involves the heart's electrical conduction system.", "url": "https://disease-ontology.org/term/DOID:10273", "evidence": [ { "id": "10273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10273" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:6364", "name": "migraine", "description": "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.", "url": "https://disease-ontology.org/term/DOID:6364", "evidence": [ { "id": "6364", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6364" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "outward rectifier potassium channel activity", "id": "GO:0015271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015271", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" } ], "pmid": "" }, { "name": "potassium ion leak channel activity", "id": "GO:0022841", "url": 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"GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" } ], "pmid": "" }, { "name": "cellular response to pH", "id": "GO:0071467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071467", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" } ], "pmid": "" }, { "name": "potassium ion export across plasma membrane", "id": "GO:0097623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097623", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" } ], "pmid": "" }, { "name": "regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation", "id": "GO:0032829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032829", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6VV64-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Asn83", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 83, "start_aa": "Asn", "end_pos": 83, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn83", "evidence": [ { "id": "Q6VV64", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6VV64#ptm_processing" }, { "id": "20006580", "database": "PubMed", "url": 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"sequence_mut": "A", "comment": "Loss of interaction with YWHAH. No effect on channel conductance.", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" }, { "database": "PubMed", "id": "18397886", "url": "https://glygen.org/publication/PubMed/18397886" }, { "database": "PubMed", "id": "32641496", "url": "https://glygen.org/publication/PubMed/32641496" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Further decreases the open probability of the channel, without affecting the single channel conductance; when associated with E-276.", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" }, { "database": "PubMed", "id": "32641496", "url": "https://glygen.org/publication/PubMed/32641496" } ] } ] }, { "uniprot_canonical_ac": "Q6VV64-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Ser276", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" }, { "database": "PubMed", "id": "14981085", "url": "https://glygen.org/publication/PubMed/14981085" }, { "database": "iPTMnet", "id": "Q6VV64", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6VV64" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Increases the open probability of the channel, without affecting the single channel conductance. Confers resistance to stimulation by calcineurin. Mice carrying the mutant allele display increased Treg numbers in thymus and spleen.", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" }, { "database": "PubMed", "id": "14981085", "url": "https://glygen.org/publication/PubMed/14981085" }, { "database": "PubMed", "id": "32641496", "url": "https://glygen.org/publication/PubMed/32641496" }, { "database": "PubMed", "id": "34702947", "url": "https://glygen.org/publication/PubMed/34702947" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Decreases the open probability of the channel, without affecting the single channel conductance.", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" }, { "database": "PubMed", "id": "32641496", "url": "https://glygen.org/publication/PubMed/32641496" } ] } ] }, { "uniprot_canonical_ac": "Q6VV64-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Gly131", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Acts as a dominant negative on wild-type KCNK18 or KCNK10 subunits.", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" }, { "database": "PubMed", "id": "32641496", "url": "https://glygen.org/publication/PubMed/32641496" } ] } ] }, { "uniprot_canonical_ac": "Q6VV64-1", "start_pos": "132", "end_pos": "132", "site_lbl": "His132", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Insensitive to extracellular protons.", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" }, { "database": "PubMed", "id": "17962323", "url": "https://glygen.org/publication/PubMed/17962323" } ] } ] }, { "uniprot_canonical_ac": "Q6VV64-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Ile212", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "A", "comment": "Loss of interaction with calcineurin and activation by elevated intracellular calcium; when associated with A-214.", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" }, { "database": "PubMed", "id": "16569637", "url": "https://glygen.org/publication/PubMed/16569637" } ] } ] }, { "uniprot_canonical_ac": "Q6VV64-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Ile214", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "A", "comment": "Strongly reduced activation by elevated intracellular Ca(2+). Loss of interaction with calcineurin and activation by elevated intracellular Ca(2+); when associated with A-212.", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" }, { "database": "PubMed", "id": "16569637", "url": "https://glygen.org/publication/PubMed/16569637" } ] } ] }, { "uniprot_canonical_ac": "Q6VV64-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Gly339", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Loss of channel conductance. In DRG sensory neurons, results in decreased rheobase current, decreased action potential duration and amplitude upon hyperpolarization and increased sensitivity to depolarizing stimuli, but has no effect on resting membrane potential. Mice carrying the mutant allele display impaired thymic Treg development and increased susceptibility to autoimmune encephalomyelitis.", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" }, { "database": "PubMed", "id": "17962323", "url": "https://glygen.org/publication/PubMed/17962323" }, { "database": "PubMed", "id": "34702947", "url": "https://glygen.org/publication/PubMed/34702947" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q8R071-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 459, "chemical_mass": 50935.0, "gene_names": "Itpka;Itpka", "protein_name": "Inositol-trisphosphate 3-kinase A", "disease": [], "biological_process": [ { "name": "inositol metabolic process", "id": "GO:0006020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006020", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "modification of postsynaptic actin cytoskeleton", "id": "GO:0098885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098885", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine morphogenesis", "id": "GO:0061003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061003", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "phosphatidylinositol phosphate biosynthetic process", "id": "GO:0046854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046854", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "dendritic spine maintenance", "id": "GO:0097062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097062", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "inositol phosphate biosynthetic process", "id": "GO:0032958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032958", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "postsynaptic actin cytoskeleton", "id": "GO:0098871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098871", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" } ], "molecular_function": [ { "name": "inositol hexakisphosphate kinase activity", "id": "GO:0000828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000828", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "inositol-1,4,5-trisphosphate 3-kinase activity", "id": "GO:0008440", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q9EQF4", "url": "https://www.uniprot.org/uniprotkb/Q9EQF4" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "Q9EQF4", "url": "https://www.uniprot.org/uniprotkb/Q9EQF4" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9EQF4", "url": "https://www.uniprot.org/uniprotkb/Q9EQF4" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9EQF4", "url": "https://www.uniprot.org/uniprotkb/Q9EQF4" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q9EQF4", "url": "https://www.uniprot.org/uniprotkb/Q9EQF4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9EQF4-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Asn185", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 185, "start_aa": "Asn", "end_pos": 185, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn185", "evidence": [ { "id": "Q9EQF4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9EQF4#ptm_processing" }, { "id": "26859261", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26859261" }, { "id": "5EJN", "database": "PDB", "url": "https://www.rcsb.org/sequence/5EJN" }, { "id": "27416963", "database": 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and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "weight": 0.0 }, { "disease_id": "DOID:3454", "name": "brain infarction", "description": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.", "url": "https://disease-ontology.org/term/DOID:3454", "evidence": [ { "id": "3454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3454" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "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: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:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of myotube differentiation", "id": "GO:0010831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010831", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "craniofacial suture morphogenesis", "id": "GO:0097094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097094", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "positive regulation of macrophage migration", "id": "GO:1905523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905523", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "cellular response to genistein", "id": "GO:0071412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071412", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "positive regulation of protein processing", "id": "GO:0010954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010954", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "negative regulation of focal adhesion assembly", "id": "GO:0051895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051895", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "astrocyte cell migration", "id": "GO:0043615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043615", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "regulation of protein localization to plasma membrane", "id": "GO:1903076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903076", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "endothelial cell proliferation", "id": "GO:0001935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001935", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "collagen catabolic process", "id": "GO:0030574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030574", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "negative regulation of Notch signaling pathway", "id": "GO:0045746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045746", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "positive regulation of B cell differentiation", "id": "GO:0045579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045579", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "zymogen activation", "id": "GO:0031638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031638", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "chondrocyte proliferation", "id": "GO:0035988", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035988", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "head development", "id": "GO:0060322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060322", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "endochondral ossification", "id": "GO:0001958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001958", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "branching morphogenesis of an epithelial tube", "id": "GO:0048754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048754", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "tissue remodeling", "id": "GO:0048771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048771", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "response to odorant", "id": "GO:1990834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990834", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "endodermal cell differentiation", "id": "GO:0035987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035987", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "GDF15-GFRAL signaling pathway", "id": "GO:0160144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160144", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "negative regulation of GDF15-GFRAL signaling pathway", "id": "GO:0160145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160145", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "cell motility", "id": "GO:0048870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048870", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "tube morphogenesis", "id": "GO:0035239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035239", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": 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"https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "microtubule organizing center", "id": "GO:0005815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005815", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "insulin-responsive compartment", "id": "GO:0032593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032593", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" } ], "biological_process": [ { "name": "atrioventricular valve development", "id": "GO:0003171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003171", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "positive regulation 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"https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "astrocyte activation involved in immune response", "id": "GO:0002265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002265", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "positive regulation of cytosolic calcium ion concentration", "id": "GO:0007204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007204", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "positive regulation of cholesterol efflux", "id": "GO:0010875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010875", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion involved in cellular response to glucose stimulus", "id": "GO:0035774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035774", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "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": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "regulation of extracellular matrix organization", "id": "GO:1903053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903053", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "positive regulation of protein localization to plasma membrane", "id": "GO:1903078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903078", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "negative regulation of focal adhesion assembly", "id": "GO:0051895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051895", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "positive regulation of amyloid-beta clearance", "id": "GO:1900223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900223", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell migration", "id": "GO:0014912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014912", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "negative regulation of Wnt signaling pathway", "id": "GO:0030178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030178", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "coronary vasculature development", "id": "GO:0060976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060976", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "apoptotic cell clearance", "id": "GO:0043277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043277", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "cell motility", "id": "GO:0048870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048870", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "aorta morphogenesis", "id": "GO:0035909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035909", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "negative regulation of cell-substrate adhesion", "id": "GO:0010812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010812", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell migration", "id": "GO:1904754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904754", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "lysosomal transport", "id": "GO:0007041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007041", "evidence": [ { 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"id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" }, { "name": "skeletal muscle acetylcholine-gated channel clustering", "id": "GO:0071340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071340", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" }, { "name": "presynaptic membrane assembly", "id": "GO:0097105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097105", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" }, { "name": "amyloid-beta clearance by cellular catabolic process", "id": "GO:0150094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150094", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" }, { "name": "regulation of postsynapse assembly", "id": "GO:0150052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150052", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" }, { "name": "plasma membrane raft", "id": "GO:0044853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044853", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], 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"database": "UniProtKB", "id": "Q8R4B8", "url": "https://www.uniprot.org/uniprotkb/Q8R4B8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1033, "chemical_mass": 118275.0, "gene_names": "Nlrp3;AGTAVPRL;AII/AVP;Cias1;FCAS;FCU;MWS;Mmig1;NALP3;Nalp3;Nlrp3;Pypaf1", "protein_name": "NACHT, LRR and PYD domains-containing protein 3", "disease": [ { "disease_id": "DOID:0050854", "name": "Muckle-Wells syndrome", "description": "A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44.", "url": "https://disease-ontology.org/term/DOID:0050854", "evidence": [ { "id": "0050854", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050854" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver 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"https://www.alliancegenome.org/disease/DOID:0090062" } ], "weight": 0.0 }, { "disease_id": "DOID:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": 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"UniProtKB", "id": "Q8R4B8", "url": "https://www.uniprot.org/uniprotkb/Q8R4B8" } ], "pmid": "" }, { "name": "NLRP3 inflammasome complex assembly", "id": "GO:0044546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044546", "evidence": [ { "database": "UniProtKB", "id": "Q8R4B8", "url": "https://www.uniprot.org/uniprotkb/Q8R4B8" } ], "pmid": "" }, { "name": "positive regulation of T-helper 17 cell differentiation", "id": "GO:2000321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000321", "evidence": [ { "database": "UniProtKB", "id": "Q8R4B8", "url": "https://www.uniprot.org/uniprotkb/Q8R4B8" } ], "pmid": "" }, { "name": "osmosensory signaling pathway", "id": "GO:0007231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007231", "evidence": [ { "database": "UniProtKB", "id": "Q8R4B8", "url": "https://www.uniprot.org/uniprotkb/Q8R4B8" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { 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The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis.", "url": "https://disease-ontology.org/term/DOID:12140", "evidence": [ { "id": "12140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12140" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. 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It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "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:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9146", "name": "visceral leishmaniasis", "description": "A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver.", "url": "https://disease-ontology.org/term/DOID:9146", "evidence": [ { "id": "9146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9146" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": 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"AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cellular response to angiotensin", "id": "GO:1904385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904385", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "aflatoxin catabolic process", "id": "GO:0046223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046223", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "negative regulation of hematopoietic stem cell differentiation", "id": "GO:1902037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902037", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "positive regulation of glutathione biosynthetic process", "id": "GO:1903788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903788", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell apoptotic process", "id": "GO:2000352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000352", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "positive regulation of reactive oxygen species metabolic process", "id": "GO:2000379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000379", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "positive regulation of blood vessel endothelial cell migration", "id": "GO:0043536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043536", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "cell redox homeostasis", "id": "GO:0045454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045454", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "positive regulation of blood coagulation", "id": "GO:0030194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030194", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "reactive oxygen species metabolic process", "id": "GO:0072593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072593", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "positive regulation of D-glucose import", "id": "GO:0046326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046326", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "cellular response to tumor necrosis factor", "id": "GO:0071356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071356", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902176", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "PERK-mediated unfolded protein response", "id": "GO:0036499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036499", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "cellular response to copper ion", "id": "GO:0071280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071280", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "cellular response to laminar fluid shear stress", "id": "GO:0071499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071499", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell apoptotic process", "id": "GO:0010667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010667", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "response to caloric restriction", "id": "GO:0061771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061771", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "negative regulation of cellular response to hypoxia", "id": "GO:1900038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900038", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "regulation of cellular response to oxidative stress", "id": "GO:1900407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900407", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "cellular response to fluid shear stress", "id": "GO:0071498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071498", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "regulation of removal of superoxide radicals", "id": "GO:2000121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000121", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "regulation of innate immune response", "id": "GO:0045088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045088", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "regulation of embryonic development", "id": "GO:0045995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045995", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "negative regulation of vascular associated smooth muscle cell migration", "id": "GO:1904753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904753", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "response to sodium arsenite", "id": "GO:1903935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903935", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "proteasomal ubiquitin-independent protein catabolic process", "id": "GO:0010499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010499", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "negative regulation of ferroptosis", "id": "GO:0110076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110076", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "cellular response to methionine", "id": "GO:0061431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061431", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", 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"database": "iPTMnet", "id": "Q9JMH7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JMH7" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Gly109", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463397", "evidence": [ { "id": "rs31525352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31525352" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ser11", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472704", "evidence": [ { "id": "rs3388887354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388887354" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Ala123", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463355", "evidence": [ { "id": "rs3388911214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388911214" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Leu129", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463337", "evidence": [ { "id": "rs3388906908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388906908" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Arg155", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463258", "evidence": [ { "id": "rs212351142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212351142" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Val161", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463241", "evidence": [ { "id": "rs3388930133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388930133" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "170", "end_pos": "170", "site_lbl": "His170", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463214", "evidence": [ { "id": "rs37274829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37274829" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Leu174", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463201", "evidence": [ { "id": "rs3388929613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388929613" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Ser184", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463172", "evidence": [ { "id": "rs3388886144", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388886144" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Arg185", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463169", "evidence": [ { "id": "rs256747239", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256747239" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Pro196", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463136", "evidence": [ { "id": "rs225356955", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225356955" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Gln19", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472679", "evidence": [ { "id": "rs3388933626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388933626" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Ser20", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472677", "evidence": [ { "id": "rs3388886127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388886127" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Val22", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472672", "evidence": [ { "id": "rs51932334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51932334" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Ala230", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463033", "evidence": [ { "id": "rs3388921646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388921646" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Thr244", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462991", "evidence": [ { "id": "rs3388926620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388926620" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Ser254", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462960", "evidence": [ { "id": "rs3388927748", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388927748" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Ser257", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462952", "evidence": [ { "id": "rs3388911203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388911203" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Gly259", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462947", "evidence": [ { "id": "rs245421879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245421879" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Arg25", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472662", "evidence": [ { "id": "rs3388915398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388915398" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Leu270", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462914", "evidence": [ { "id": "rs3388929681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388929681" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Val282", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462878", "evidence": [ { "id": "rs3388930144", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388930144" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Thr292", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462847", "evidence": [ { "id": "rs265972837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265972837" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Gln294", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462841", "evidence": [ { "id": "rs3388901174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388901174" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Asp295", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462610", "evidence": [ { "id": "rs3388927729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388927729" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Leu29", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472651", "evidence": [ { "id": "rs3388930987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388930987" } ] }, { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472650", "evidence": [ { "id": "rs3388930101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388930101" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Glu2", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463489", "evidence": [ { "id": "rs3398493702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398493702" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Cys307", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462802", "evidence": [ { "id": "rs247219151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247219151" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Pro313", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462785", "evidence": [ { "id": "rs229105043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229105043" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Tyr31", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472643", "evidence": [ { "id": "rs3388929691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388929691" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Ala325", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462748", "evidence": [ { "id": "rs261458572", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261458572" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Thr334", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462722", "evidence": [ { "id": "rs219270788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219270788" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Ile340", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462703", "evidence": [ { "id": "rs3388930097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388930097" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Asp371", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462610", "evidence": [ { "id": "rs3388927729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388927729" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Val381", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462580", "evidence": [ { "id": "rs3388926679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388926679" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Pro415", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462478", "evidence": [ { "id": "rs3388926222", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388926222" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Arg45", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472602", "evidence": [ { "id": "rs3388926250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388926250" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Val48", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472594", "evidence": [ { "id": "rs36397668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36397668" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Arg60", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472557", "evidence": [ { "id": "rs38546553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs38546553" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Gly61", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472554", "evidence": [ { "id": "rs3388929669", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388929669" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Trp70", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463512", "evidence": [ { "id": "rs3398493692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398493692" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Pro72", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463507", "evidence": [ { "id": "rs3398250318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398250318" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Gln73", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463503", "evidence": [ { "id": "rs3398391664", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398391664" } ] } ] }, { 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"pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q921N8-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Thr160", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 160, "start_aa": "Thr", "end_pos": 160, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr160", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q921N8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q921N8" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->K).", "chr_id": "11", "chr_pos": 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"name": "alopecia universalis", "description": "An alopecia characterized by the complete loss of hair on the scalp and body.", "url": "https://disease-ontology.org/term/DOID:0050634", "evidence": [ { "id": "0050634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050634" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060061", "name": "primary cutaneous T-cell non-Hodgkin lymphoma", "description": "A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells.", "url": "https://disease-ontology.org/term/DOID:0060061", "evidence": [ { "id": "0060061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060061" } ], "weight": 0.0 }, { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:0080745", "name": "polymyositis", "description": "A myositis that is characterized by muscle weakness affecting both sides of your body.", "url": "https://disease-ontology.org/term/DOID:0080745", "evidence": [ { "id": "0080745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080745" } ], "weight": 0.0 }, { "disease_id": "DOID:0080822", "name": "aspirin-induced respiratory disease", "description": "An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.", "url": "https://disease-ontology.org/term/DOID:0080822", "evidence": [ { "id": "0080822", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080822" } ], "weight": 0.0 }, { "disease_id": "DOID:1003", "name": "pelvic inflammatory disease", "description": "A female reproductive system disease that is characterized by an infection of the female reproductive organs.", "url": "https://disease-ontology.org/term/DOID:1003", "evidence": [ { "id": "1003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1003" } ], "weight": 0.0 }, { "disease_id": "DOID:10113", "name": "trypanosomiasis", "description": "A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans.", "url": "https://disease-ontology.org/term/DOID:10113", "evidence": [ { "id": "10113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10113" } ], "weight": 0.0 }, { "disease_id": "DOID:10223", "name": "dermatomyositis", "description": "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.", "url": "https://disease-ontology.org/term/DOID:10223", "evidence": [ { "id": "10223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10223" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID:13001", "name": "carotid stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:13001", "evidence": [ { "id": "13001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13001" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1495", "name": "cystic echinococcosis", "description": "An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected.", "url": "https://disease-ontology.org/term/DOID:1495", "evidence": [ { "id": "1495", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1495" } ], "weight": 0.0 }, { "disease_id": "DOID:1561", "name": "cognitive disorder", "description": "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.", "url": "https://disease-ontology.org/term/DOID:1561", "evidence": [ { "id": "1561", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1561" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2048", "name": "autoimmune hepatitis", "description": "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.", "url": "https://disease-ontology.org/term/DOID:2048", "evidence": [ { "id": "2048", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2048" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2772", "name": "irritant dermatitis", "description": "A contact dermatitis that is characterized by a cutaneous inflammatory reaction to repeated contact with an irritant substance, friction, liquid, or adverse temperature that interacts with the skin and often has_symptom erythema, edema, scaling, pain, pruritis, or burning sensation.", "url": "https://disease-ontology.org/term/DOID:2772", "evidence": [ { "id": "2772", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2772" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:7188", "name": "autoimmune thyroiditis", "description": "An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.", "url": "https://disease-ontology.org/term/DOID:7188", "evidence": [ { "id": "7188", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7188" } ], "weight": 0.0 }, { "disease_id": "DOID:8536", "name": "herpes zoster", "description": "A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia.", "url": "https://disease-ontology.org/term/DOID:8536", "evidence": [ { "id": "8536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8536" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8924", "name": "autoimmune thrombocytopenic purpura", "description": "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.", "url": "https://disease-ontology.org/term/DOID:8924", "evidence": [ { "id": "8924", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8924" } ], "weight": 0.0 }, { "disease_id": "DOID:9065", "name": "leishmaniasis", "description": "A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae).", "url": "https://disease-ontology.org/term/DOID:9065", "evidence": [ { "id": "9065", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9065" } ], "weight": 0.0 }, { "disease_id": "DOID:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9790", "name": "toxocariasis", "description": "A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions.", "url": "https://disease-ontology.org/term/DOID:9790", "evidence": [ { "id": "9790", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9790" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of cellular response to transforming growth factor beta stimulus", "id": "GO:1903845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903845", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "negative regulation of chronic inflammatory response", "id": "GO:0002677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002677", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell migration", "id": "GO:0010633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010633", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of interleukin-13 production", "id": "GO:0032736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032736", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "interleukin-4-mediated signaling pathway", "id": "GO:0035771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035771", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of ATP biosynthetic process", "id": "GO:2001171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001171", "evidence": [ { "database": "UniProtKB", "id": "P07750", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": 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"" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "T cell activation", "id": "GO:0042110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042110", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "B cell activation", "id": "GO:0042113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042113", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of mast cell degranulation", "id": "GO:0043306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043306", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { 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"P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "myeloid dendritic cell differentiation", "id": "GO:0043011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043011", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "T-helper 2 cell differentiation", "id": "GO:0045064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045064", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:0097192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097192", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of isotype switching to IgG isotypes", "id": "GO:0048304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048304", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "negative regulation of osteoclast differentiation", "id": "GO:0045671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045671", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of interleukin-10 production", "id": "GO:0032733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032733", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of B cell activation", "id": "GO:0050871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050871", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "negative regulation of T cell activation", "id": "GO:0050868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050868", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of eosinophil chemotaxis", "id": "GO:2000424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000424", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of T-helper 2 cell cytokine production", "id": "GO:2000553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000553", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of cellular respiration", "id": "GO:1901857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901857", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "B cell costimulation", "id": "GO:0031296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031296", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of T cell differentiation", "id": "GO:0045582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045582", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "dendritic cell differentiation", "id": "GO:0097028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097028", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "macrophage activation", "id": "GO:0042116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042116", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of MHC class II biosynthetic process", "id": "GO:0045348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045348", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via JAK-STAT", "id": "GO:0007259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007259", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of isotype switching to IgE isotypes", "id": "GO:0048295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048295", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "response to nematode", "id": "GO:0009624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009624", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of cold-induced thermogenesis", "id": "GO:0120162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120162", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of immunoglobulin production", "id": "GO:0002639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002639", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of B cell chemotaxis", "id": "GO:2000538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000538", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "negative regulation of complement-dependent cytotoxicity", "id": "GO:1903660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903660", "evidence": [ { "database": "UniProtKB", "id": 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"https://www.alliancegenome.org/disease/DOID:1852" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": 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"https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "negative regulation of interleukin-2 production", "id": "GO:0032703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032703", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "positive regulation of interleukin-17 production", "id": "GO:0032740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032740", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "nuclear receptor-mediated bile acid signaling pathway", "id": "GO:0038185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038185", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "positive regulation of phosphatidic acid biosynthetic process", "id": "GO:1905695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905695", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "positive regulation of ammonia assimilation cycle", "id": "GO:2001250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001250", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "regulation of carbohydrate metabolic process", "id": "GO:0006109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006109", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "negative regulation of type II interferon production", "id": "GO:0032689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032689", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "negative regulation of interleukin-6 production", "id": "GO:0032715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032715", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "negative regulation of tumor necrosis factor production", "id": "GO:0032720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032720", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion involved in cellular response to glucose stimulus", "id": "GO:0035774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035774", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "fatty acid homeostasis", "id": "GO:0055089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055089", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "negative regulation of canonical NF-kappaB signal transduction", "id": "GO:0043124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043124", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "intracellular glucose homeostasis", "id": "GO:0001678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001678", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "cell-cell junction assembly", "id": "GO:0007043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007043", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "bile acid metabolic process", "id": "GO:0008206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008206", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "negative regulation of very-low-density lipoprotein particle remodeling", "id": "GO:0010903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010903", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "negative regulation of monocyte chemotactic protein-1 production", "id": "GO:0071638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071638", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "regulation of insulin secretion involved in cellular response to glucose stimulus", "id": "GO:0061178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061178", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "triglyceride homeostasis", "id": "GO:0070328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070328", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "intracellular receptor signaling pathway", "id": "GO:0030522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030522", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "negative regulation of tumor necrosis factor-mediated signaling pathway", "id": "GO:0010804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010804", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "positive regulation of insulin receptor signaling pathway", "id": "GO:0046628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046628", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "negative regulation of interleukin-1 production", "id": "GO:0032692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032692", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "negative regulation of triglyceride biosynthetic process", "id": "GO:0010868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010868", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "response to norepinephrine", "id": "GO:0071873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071873", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "toll-like receptor 9 signaling pathway", "id": "GO:0034162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034162", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "intracellular triglyceride homeostasis", "id": "GO:0035356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035356", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "negative regulation of collagen biosynthetic process", "id": "GO:0032966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032966", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "cellular response to fatty acid", "id": "GO:0071398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071398", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "regulation of low-density lipoprotein particle clearance", "id": "GO:0010988", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010988", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "urea metabolic process", "id": "GO:0019627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019627", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "cellular response to bile acid", "id": "GO:1903413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903413", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "regulation of glutamate metabolic process", "id": "GO:2000211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000211", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" } ], "molecular_function": [ { "name": "chenodeoxycholic acid binding", "id": "GO:1902122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902122", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0016310", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": "https://www.uniprot.org/uniprotkb/Q8CI15" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": "https://www.uniprot.org/uniprotkb/Q8CI15" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": "https://www.uniprot.org/uniprotkb/Q8CI15" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": "https://www.uniprot.org/uniprotkb/Q8CI15" } ], "pmid": "" }, { "name": "positive regulation of p38MAPK 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"pmid": "" }, { "name": "protein acetylation", "id": "GO:0006473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006473", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": "https://www.uniprot.org/uniprotkb/Q8CI15" } ], "pmid": "" }, { "name": "positive regulation of mitotic nuclear division", "id": "GO:0045840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045840", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": "https://www.uniprot.org/uniprotkb/Q8CI15" } ], "pmid": "" }, { "name": "regulation of microglial cell activation", "id": "GO:1903978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903978", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": "https://www.uniprot.org/uniprotkb/Q8CI15" } ], "pmid": "" }, { "name": "positive regulation of neurotransmitter secretion", "id": "GO:0001956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001956", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": 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"url": "https://www.uniprot.org/uniprotkb/Q8CI15" } ], "pmid": "" }, { "name": "regulation of ceramide biosynthetic process", "id": "GO:2000303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000303", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": "https://www.uniprot.org/uniprotkb/Q8CI15" } ], "pmid": "" }, { "name": "regulation of cytokine production", "id": "GO:0001817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001817", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": "https://www.uniprot.org/uniprotkb/Q8CI15" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": "https://www.uniprot.org/uniprotkb/Q8CI15" } ], "pmid": "" }, { "name": "regulation of transport", "id": "GO:0051049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051049", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": 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"pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ], "pmid": "" }, { "name": "RNA stem-loop binding", "id": "GO:0035613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035613", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ], "pmid": "" }, { "name": "CCR4-NOT complex binding", "id": "GO:1905762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905762", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Asn122", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GVGLNSTTQSVLSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 122, "start_aa": "Asn", "end_pos": 122, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn122", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "873", "end_pos": "873", "site_lbl": "Thr873", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 873, "start_aa": "Thr", "end_pos": 873, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr873", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q4VGL6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q4VGL6" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "875", "end_pos": "875", "site_lbl": "Ser875", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 875, "start_aa": "Ser", "end_pos": 875, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser875", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q4VGL6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q4VGL6" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "1107", "end_pos": "1107", "site_lbl": "Ser1107", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q4VGL6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4VGL6" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "1110", "end_pos": "1110", "site_lbl": "Ser1110", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q4VGL6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4VGL6" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Ser462", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "531", "end_pos": "531", "site_lbl": "Ser531", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q4VGL6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4VGL6" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "535", "end_pos": "535", "site_lbl": "Ser535", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q4VGL6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4VGL6" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "861", "end_pos": "861", "site_lbl": "Ser861", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Cys14", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on localization to stress granules.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "20412057", "url": "https://glygen.org/publication/PubMed/20412057" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Arg188", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on CDERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Met199", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "R", "comment": "In sanroque; partial loss of ICOS regulation, no effect on localization to stress granules, no effect on RNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "15917799", "url": "https://glygen.org/publication/PubMed/15917799" }, { "database": "PubMed", "id": "20412057", "url": "https://glygen.org/publication/PubMed/20412057" }, { "database": "PubMed", "id": "27010430", "url": "https://glygen.org/publication/PubMed/27010430" }, { "database": "PubMed", "id": "31636267", "url": "https://glygen.org/publication/PubMed/31636267" }, { "database": "PubMed", "id": "25697406", "url": "https://glygen.org/publication/PubMed/25697406" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Arg219", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on CDERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Lys220", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Strongly decreases CDE and ADERNA-binding. Increases target-mRNA expression. Increases ICOS surface expression; when associated with A-239 and A-260.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25282160", "url": "https://glygen.org/publication/PubMed/25282160" }, { "database": "PubMed", "id": "27010430", "url": "https://glygen.org/publication/PubMed/27010430" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Arg229", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on CDERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "27010430", "url": "https://glygen.org/publication/PubMed/27010430" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Arg233", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on CDERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Ser238", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreases CDERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Lys239", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Strongly decreases CDE and ADERNA-binding. Increases target-mRNA expression. Abolishes CDERNA-binding and highly increases target-mRNA expression; when associated with A-260. Increases target-mRNA expression. Increases ICOS surface expression; when associated with A-220 and A-260.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25282160", "url": "https://glygen.org/publication/PubMed/25282160" }, { "database": "PubMed", "id": "27010430", "url": "https://glygen.org/publication/PubMed/27010430" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Tyr250", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Decreases CDERNA-binding. Increases target-mRNA expression.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "27010430", "url": "https://glygen.org/publication/PubMed/27010430" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Arg251", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on CDERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Ser253", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Slightly decreases CDE and ADERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "27010430", "url": "https://glygen.org/publication/PubMed/27010430" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Lys259", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Strongly decreases CDE and ADERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "27010430", "url": "https://glygen.org/publication/PubMed/27010430" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Arg260", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Strongly decreases CDE and ADERNA-binding. Increases target-mRNA expression. Abolishes CDERNA-binding and highly increases target-mRNA expression; when associated with A-239. Increases target-mRNA expression. Increases ICOS surface expression; when associated with A-220 and A-239.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25282160", "url": "https://glygen.org/publication/PubMed/25282160" }, { "database": "PubMed", "id": "27010430", "url": "https://glygen.org/publication/PubMed/27010430" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Ser264", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreases CDERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Ser265", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Decreases CDE and ADERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "27010430", "url": "https://glygen.org/publication/PubMed/27010430" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Glu293", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "No effect on CDERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Lys314", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on CDERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Cys419", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "No effect on RNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "23663784", "url": "https://glygen.org/publication/PubMed/23663784" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Cys434", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "No effect on localization to stress granules, reduces RNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "488", "end_pos": "488", "site_lbl": "Arg488", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "No effect on cleavage.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25282160", "url": "https://glygen.org/publication/PubMed/25282160" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "510", "end_pos": "510", "site_lbl": "Arg510", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Abolishes the formation of a preferential cleavage product. Abolishes protein cleavage; when associated with G-579.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25282160", "url": "https://glygen.org/publication/PubMed/25282160" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "560", "end_pos": "560", "site_lbl": "Arg560", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "No effect on cleavage.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25282160", "url": "https://glygen.org/publication/PubMed/25282160" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "579", "end_pos": "579", "site_lbl": "Arg579", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Abolishes the formation of an alternative cleavage product. Abolishes protein cleavage; when associated with G-510.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25282160", "url": "https://glygen.org/publication/PubMed/25282160" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q61206-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 229, "chemical_mass": 25581.0, "gene_names": "Pafah1b2;2610005M20Rik;Pafah1b2;Pafahb;mus[b]", "protein_name": "Platelet-activating factor acetylhydrolase IB subunit alpha2", "disease": [ { "disease_id": "DOID:0060058", "name": "lymphoma", "description": "A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.", "url": "https://disease-ontology.org/term/DOID:0060058", "evidence": [ { "id": "0060058", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060058" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "platelet-activating factor acetyltransferase activity", "id": "GO:0047179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047179", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "pmid": "" }, { "name": "protein 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], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "pmid": "" }, { "name": "1-alkyl-2-acetylglycerophosphocholine esterase complex", "id": "GO:0008247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008247", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61206-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Thr220", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61206", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61206" } ] } ] }, { "uniprot_canonical_ac": "Q61206-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ] } ] }, { "uniprot_canonical_ac": "Q61206-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Ser64", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61206", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61206" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q9CQH0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CQH0", "url": "https://www.uniprot.org/uniprotkb/Q9CQH0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 114, "chemical_mass": 12298.0, "gene_names": "Pdzk1ip1;0610007F13Rik;2700030M23Rik;Map17;Pdzk1ip1", "protein_name": "PDZK1-interacting protein 1", "disease": [], "cellular_component": [ { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9CQH0", "url": "https://www.uniprot.org/uniprotkb/Q9CQH0" } ], "pmid": "" }, { "name": "transmembrane transporter complex", "id": "GO:1902495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902495", "evidence": [ { "database": "UniProtKB", "id": "Q9CQH0", "url": "https://www.uniprot.org/uniprotkb/Q9CQH0" } ], "pmid": "" } ], "biological_process": [ { "name": "D-glucose import across plasma membrane", "id": "GO:0098708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098708", "evidence": [ { "database": "UniProtKB", "id": "Q9CQH0", "url": "https://www.uniprot.org/uniprotkb/Q9CQH0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CQH0-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Ser85", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQH0", "url": "https://www.uniprot.org/uniprotkb/Q9CQH0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CQH0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CQH0" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "O88502-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88502", "url": "https://www.uniprot.org/uniprotkb/O88502" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 823, "chemical_mass": 93171.0, "gene_names": "Pde8a;Pde8a;Pde8", "protein_name": "High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A", "disease": [], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "O88502", "url": "https://www.uniprot.org/uniprotkb/O88502" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "O88502", "url": "https://www.uniprot.org/uniprotkb/O88502" } ], "pmid": "" }, { "name": "cellular response to epidermal growth factor stimulus", "id": "GO:0071364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071364", "evidence": [ { "database": "UniProtKB", "id": "O88502", "url": "https://www.uniprot.org/uniprotkb/O88502" } ], "pmid": "" }, { "name": "cAMP catabolic process", "id": "GO:0006198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006198", "evidence": [ { "database": "UniProtKB", "id": "O88502", "url": "https://www.uniprot.org/uniprotkb/O88502" } ], "pmid": "" }, { "name": "negative regulation of cAMP/PKA signal transduction", "id": "GO:0141162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141162", "evidence": [ { "database": "UniProtKB", "id": "O88502", "url": "https://www.uniprot.org/uniprotkb/O88502" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O88502", "url": "https://www.uniprot.org/uniprotkb/O88502" } ], "pmid": "" }, { "name": "protein kinase activator activity", "id": "GO:0030295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030295", "evidence": [ { "database": "UniProtKB", "id": "O88502", "url": "https://www.uniprot.org/uniprotkb/O88502" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", 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"https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "filamentous actin", "id": "GO:0031941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031941", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "early endosome lumen", "id": "GO:0031905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031905", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" } ], "molecular_function": [ { "name": "muscle alpha-actinin binding", "id": "GO:0051371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051371", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "metal ion 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060940", "evidence": [ { "database": "UniProtKB", "id": "Q61823", "url": "https://www.uniprot.org/uniprotkb/Q61823" } ], "pmid": "" }, { "name": "negative regulation of myofibroblast differentiation", "id": "GO:1904761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904761", "evidence": [ { "database": "UniProtKB", "id": "Q61823", "url": "https://www.uniprot.org/uniprotkb/Q61823" } ], "pmid": "" }, { "name": "negative regulation of vascular associated smooth muscle cell differentiation", "id": "GO:1905064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905064", "evidence": [ { "database": "UniProtKB", "id": "Q61823", "url": "https://www.uniprot.org/uniprotkb/Q61823" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q61823", "url": "https://www.uniprot.org/uniprotkb/Q61823" } ], "pmid": "" }, { "name": "positive regulation of non-canonical NF-kappaB signal transduction", "id": "GO:1901224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901224", "evidence": [ { "database": "UniProtKB", "id": "Q61823", "url": "https://www.uniprot.org/uniprotkb/Q61823" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q61823", "url": "https://www.uniprot.org/uniprotkb/Q61823" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "Q61823", "url": "https://www.uniprot.org/uniprotkb/Q61823" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q61823", "url": 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"https://www.uniprot.org/uniprotkb/Q8R2Z3" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z3", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z3" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z3", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z3" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z3", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z3", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z3" } ], "pmid": 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"GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z3", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z3" } ], "pmid": "" } ], "molecular_function": [ { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z3", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z3" } ], "pmid": "" }, { "name": "monoatomic anion channel activity", "id": "GO:0005253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005253", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z3", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z3" } ], "pmid": "" }, { "name": "bicarbonate transmembrane transporter activity", "id": "GO:0015106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015106", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z3", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z3" } ], "pmid": "" }, { "name": "oxalate 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"AGR", "url": "https://www.alliancegenome.org/disease/DOID:2870" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "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:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID:3069", "name": "malignant astrocytoma", "description": "A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.", "url": "https://disease-ontology.org/term/DOID:3069", "evidence": [ { "id": "3069", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3069" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3078", "name": "anaplastic astrocytoma", "description": "A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei.", "url": "https://disease-ontology.org/term/DOID:3078", "evidence": [ { "id": "3078", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3078" } ], "weight": 0.0 }, { "disease_id": "DOID:3490", "name": "Noonan syndrome", "description": "A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.", "url": "https://disease-ontology.org/term/DOID:3490", "evidence": [ { "id": "3490", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3490" } ], "weight": 0.0 }, { "disease_id": "DOID:3883", "name": "Lynch syndrome", "description": "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.", "url": "https://disease-ontology.org/term/DOID:3883", "evidence": [ { "id": "3883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3883" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4440", "name": "seminoma", "description": "A germinoma that has_material_basis_in cells that make sperm and eggs.", "url": "https://disease-ontology.org/term/DOID:4440", "evidence": [ { "id": "4440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4440" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4905", "name": "pancreatic carcinoma", "description": "A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas.", "url": "https://disease-ontology.org/term/DOID:4905", "evidence": [ { "id": "4905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4905" } ], "weight": 0.0 }, { "disease_id": "DOID:4926", "name": "bronchiolo-alveolar adenocarcinoma", "description": "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension.", "url": "https://disease-ontology.org/term/DOID:4926", "evidence": [ { "id": "4926", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4926" } ], "weight": 0.0 }, { "disease_id": "DOID:4927", "name": "Klatskin's tumor", "description": "An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts.", "url": "https://disease-ontology.org/term/DOID:4927", "evidence": [ { "id": "4927", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4927" } ], "weight": 0.0 }, { "disease_id": "DOID:4928", "name": "intrahepatic cholangiocarcinoma", "description": "A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree.", "url": "https://disease-ontology.org/term/DOID:4928", "evidence": [ { "id": "4928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4928" } ], "weight": 0.0 }, { "disease_id": "DOID:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID:6726", "name": "fibrillary astrocytoma", "description": "A malignant astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes.", "url": "https://disease-ontology.org/term/DOID:6726", "evidence": [ { "id": "6726", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6726" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7235", "name": "pancreatic mucinous cystadenoma", "description": "", "url": "https://disease-ontology.org/term/DOID:7235", "evidence": [ { "id": "7235", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7235" } ], "weight": 0.0 }, { "disease_id": "DOID:767", "name": "muscular atrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:767", "evidence": [ { "id": "767", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:767" } ], "weight": 0.0 }, { "disease_id": "DOID:8683", "name": "myeloid sarcoma", "description": "", "url": "https://disease-ontology.org/term/DOID:8683", "evidence": [ { "id": "8683", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8683" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "protein phosphatase type 1 complex", "id": "GO:0000164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000164", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" } ], "biological_process": [ { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "response to isolation stress", "id": "GO:0035900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035900", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "regulation of long-term neuronal synaptic plasticity", "id": "GO:0048169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048169", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "homeostasis of number of cells within a tissue", "id": "GO:0048873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048873", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "positive regulation of MAP kinase activity", "id": "GO:0043406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043406", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "positive regulation of nitric-oxide synthase activity", "id": "GO:0051000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051000", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "response to mineralocorticoid", "id": "GO:0051385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051385", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "positive regulation of Rac protein signal transduction", "id": "GO:0035022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035022", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "insulin-like growth factor receptor signaling pathway", "id": "GO:0048009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048009", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "striated muscle cell differentiation", "id": "GO:0051146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051146", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "cardiac muscle cell proliferation", "id": "GO:0060038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060038", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "positive regulation of cellular senescence", "id": "GO:2000774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000774", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "myoblast proliferation", "id": "GO:0051450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051450", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "epithelial tube branching involved in lung morphogenesis", "id": "GO:0060441", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060441", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "regulation of synaptic transmission, GABAergic", "id": "GO:0032228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032228", "evidence": [ { "database": "UniProtKB", 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"" } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "P84078", "url": "https://www.uniprot.org/uniprotkb/P84078" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P84078", "url": "https://www.uniprot.org/uniprotkb/P84078" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P84078", "url": "https://www.uniprot.org/uniprotkb/P84078" } ], "pmid": "" }, { "name": "GDP binding", "id": "GO:0019003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019003", "evidence": [ { "database": "UniProtKB", "id": "P84078", "url": "https://www.uniprot.org/uniprotkb/P84078" } ], "pmid": "" }, { "name": "phospholipase D 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"site_lbl": "Glu297", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25805952", "evidence": [ { "id": "rs3389426701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389426701" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Pro30", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25924345", "evidence": [ { "id": "rs236469791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236469791" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Ala355", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25803702", "evidence": [ { "id": "rs221954419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221954419" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Gly419", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25799937", "evidence": [ { "id": "rs3389400755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389400755" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Ile430", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25799904", "evidence": [ { "id": "rs245843401", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245843401" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "448", "end_pos": "448", "site_lbl": "Val448", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25791123", "evidence": [ { "id": "rs3508088251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3508088251" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Val465", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25791072", "evidence": [ { "id": "rs3389370452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389370452" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "472", "end_pos": "472", "site_lbl": "Arg472", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25791050", "evidence": [ { "id": "rs255673521", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255673521" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "479", "end_pos": "479", "site_lbl": "Asn479", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25791029", "evidence": [ { "id": "rs32485836", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32485836" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Asp486", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25790428_25790429insCACTACCTCAACCAT", "evidence": [ { "id": "rs3389406594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389406594" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "488", "end_pos": "488", "site_lbl": "Tyr488", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25790424", "evidence": [ { "id": "rs3389378027", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389378027" } ] }, { "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25790423", "evidence": [ { "id": "rs3389370492", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389370492" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "489", "end_pos": "489", "site_lbl": "Arg489", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25790420", "evidence": [ { "id": "rs3389410003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389410003" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "497", "end_pos": "497", "site_lbl": "Pro497", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25790396", "evidence": [ { "id": "rs3389416202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389416202" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "532", "end_pos": "532", "site_lbl": "Lys532", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25789670", "evidence": [ { "id": "rs3389400764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389400764" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "537", "end_pos": "537", "site_lbl": "Val537", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25789657", "evidence": [ { "id": "rs3389404924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389404924" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "549", "end_pos": "549", "site_lbl": "Phe549", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25789620", "evidence": [ { "id": "rs3389407739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389407739" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "551", "end_pos": "551", "site_lbl": "Tyr551", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25789614", "evidence": [ { "id": "rs3389416265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389416265" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "561", "end_pos": "561", "site_lbl": "Ser561", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25789584", "evidence": [ { "id": "rs32484948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32484948" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "571", "end_pos": "571", "site_lbl": "Ser571", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25788744", "evidence": [ { "id": "rs3389325328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389325328" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "611", "end_pos": "611", "site_lbl": "Asp611", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25787524", "evidence": [ { "id": "rs250155713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250155713" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "613", "end_pos": "613", "site_lbl": "Gly613", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25787520", "evidence": [ { "id": "rs3389404900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389404900" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "629", "end_pos": "629", "site_lbl": "Ile629", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25784607", "evidence": [ { "id": "rs3389419293", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389419293" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "667", "end_pos": "667", "site_lbl": "Asp667", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25784494", "evidence": [ { "id": "rs3389419283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389419283" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "691", "end_pos": "691", "site_lbl": "Gly691", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25779149", "evidence": [ { "id": "rs215792014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215792014" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Arg74", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25924214", "evidence": [ { "id": "rs3552223527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3552223527" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q8VDG3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 624, "chemical_mass": 71559.0, "gene_names": "Parn;1200003I18Rik;DAN;Parn", "protein_name": "Poly(A)-specific ribonuclease PARN", "disease": [ { "disease_id": "DOID:0070024", "name": "autosomal recessive dyskeratosis congenita 6", "description": "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12.", "url": "https://disease-ontology.org/term/DOID:0070024", "evidence": [ { "id": "0070024", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070024" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "3'-5'-RNA exonuclease activity", "id": "GO:0000175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000175", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "poly(A)-specific ribonuclease activity", "id": "GO:0004535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004535", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "telomerase RNA binding", "id": "GO:0070034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070034", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "cation binding", "id": "GO:0043169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043169", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": 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"database": "PubMed", "id": "10413086", "url": "https://glygen.org/publication/PubMed/10413086" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "P11416-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 462, "chemical_mass": 50735.0, "gene_names": "Rara;Nr1b1;RARalpha1;RAR;Rara", "protein_name": "Retinoic acid receptor alpha", "disease": [ { "disease_id": "DOID:0060318", "name": "acute promyelocytic leukemia", "description": "An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.", "url": "https://disease-ontology.org/term/DOID:0060318", "evidence": [ { "id": "0060318", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060318" } 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"pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" 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"https://www.uniprot.org/uniprotkb/P11416" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" } ], "pmid": "" }, { "name": "response to vitamin A", "id": "GO:0033189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033189", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" } ], "pmid": "" }, { "name": "retinoic acid receptor signaling pathway", "id": "GO:0048384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048384", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": 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Small loss in transcriptional activation.", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" }, { "database": "PubMed", "id": "17205979", "url": "https://glygen.org/publication/PubMed/17205979" } ] }, { "sequence_org": "K", "sequence_mut": "Q", "comment": "Greatly reduced interaction with RXRA and NCOR1 and transcriptional activation.", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" }, { "database": "PubMed", "id": "17205979", "url": "https://glygen.org/publication/PubMed/17205979" } ] } ] }, { "uniprot_canonical_ac": "P11416-1", "start_pos": "449", "end_pos": "449", "site_lbl": "Ser449", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No change in phosphorylation levels and no effect on transcriptional activity.", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" }, { "database": "PubMed", "id": "9230306", "url": "https://glygen.org/publication/PubMed/9230306" } ] } ] }, { "uniprot_canonical_ac": "P11416-1", "start_pos": "456", "end_pos": "456", "site_lbl": "Ser456", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No change in phosphorylation levels and no effect on transcriptional activity.", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" }, { "database": "PubMed", "id": "9230306", "url": "https://glygen.org/publication/PubMed/9230306" } ] } ] }, { "uniprot_canonical_ac": "P11416-1", "start_pos": "461", "end_pos": "461", "site_lbl": "Ser461", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No change in phosphorylation levels and no effect on transcriptional activity.", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" }, { "database": "PubMed", "id": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P49722", "url": "https://www.uniprot.org/uniprotkb/P49722" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "P49722", "url": "https://www.uniprot.org/uniprotkb/P49722" } ], "pmid": "" }, { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "P49722", "url": "https://www.uniprot.org/uniprotkb/P49722" } ], "pmid": "" }, { "name": "proteasomal protein catabolic process", "id": "GO:0010498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010498", "evidence": [ { "database": "UniProtKB", "id": "P49722", "url": "https://www.uniprot.org/uniprotkb/P49722" } ], "pmid": "" }, { "name": "regulation of proteasomal protein 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Loss of acetylation and loss of regulation of growth-factor-induced gene expression; when associated with R-1838; R-1866; R-1873; R-1887; R-1908; R-1922 and R-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "24207025", "url": "https://glygen.org/publication/PubMed/24207025" }, { "database": "PubMed", "id": "17526739", "url": "https://glygen.org/publication/PubMed/17526739" } ] }, { "sequence_org": "K", "sequence_mut": "S", "comment": "Loss of methylation and dimethylation but no effect on phosphorylation; when associated with S-1838; S-1866; S-1873; S-1887; S-1908; S-1922 and S-1936. Highly decreases methylation and dimethylation; when associated with S-1866; S-1873; S-1887; S-1908; S-1922 and S-1936. Decreases methylation but no effect on dimethylation; when associated with S-1866; S-1887; S-1908 and S-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "26687004", "url": "https://glygen.org/publication/PubMed/26687004" } ] } ] }, { "uniprot_canonical_ac": "P08775-1", "start_pos": "1866", "end_pos": "1866", "site_lbl": "Lys1866", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of ubiquitination, no effect on interaction with WWP2; when associated with R-1859; R-1873; R-1887; R-1908 and R-1922. Loss of acetylation and loss of regulation of growth-factor-induced gene expression; when associated with R-1859; R-1859; R-1873; R-1887; R-1908; R-1922 and R-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "24207025", "url": "https://glygen.org/publication/PubMed/24207025" }, { "database": "PubMed", "id": "17526739", "url": "https://glygen.org/publication/PubMed/17526739" } ] }, { "sequence_org": "K", "sequence_mut": "S", "comment": "Loss of methylation and dimethylation but no effect on phosphorylation; when associated with S-1838; S-1859; S-1873; S-1887; S-1908; S-1922 and S-1936. Highly decreases methylation and dimethylation; when associated with S-1859; S-1873; S-1887; S-1908; S-1922 and S-1936. Decreases methylation but no effect on dimethylation; when associated with S-1859; S-1887; S-1908 and S-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "26687004", "url": "https://glygen.org/publication/PubMed/26687004" } ] } ] }, { "uniprot_canonical_ac": "P08775-1", "start_pos": "1873", "end_pos": "1873", "site_lbl": "Lys1873", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of ubiquitination, no effect on interaction with WWP2; when associated with R-1859; R-1866; R-1887; R-1908 and R-1922. Loss of acetylation and loss of regulation of growth-factor-induced gene expression; when associated with R-1838; R-1859; R-1866; R-1887; R-1908; R-1922 and R-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "24207025", "url": "https://glygen.org/publication/PubMed/24207025" }, { "database": "PubMed", "id": "17526739", "url": "https://glygen.org/publication/PubMed/17526739" } ] }, { "sequence_org": "K", "sequence_mut": "S", "comment": "Loss of methylation and dimethylation but no effect on phosphorylation; when associated with S-1838; S-1859; S-1866; S-1887; S-1908; S-1922 and S-1936. Highly decreases methylation and dimethylation; when associated with S-1859; S-1866; S-1887; S-1908 and S-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "26687004", "url": "https://glygen.org/publication/PubMed/26687004" } ] } ] }, { "uniprot_canonical_ac": "P08775-1", "start_pos": "1887", "end_pos": "1887", "site_lbl": "Lys1887", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of ubiquitination, no effect on interaction with WWP2; when associated with R-1859; R-1866; R-1873; R-1908 and R-1922. Loss of acetylation and loss of regulation of growth-factor-induced gene expression; when associated with R-1838; R-1859; R-1866; R-1873; R-1908; R-1922 and R-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "24207025", "url": "https://glygen.org/publication/PubMed/24207025" }, { "database": "PubMed", "id": "17526739", "url": "https://glygen.org/publication/PubMed/17526739" } ] }, { "sequence_org": "K", "sequence_mut": "S", "comment": "Loss of methylation and dimethylation but no effect on phosphorylation; when associated with S-1838; S-1859; S-1866; S-1873; S-1908; S-1922 and S-1936. Highly decreases methylation and dimethylation; when associated with S-1859; S-1866; S-1873; S-1908; S-1922 and S-1936. Decreases methylation but no effect on dimethylation; when associated with S-1859; S-1866; S-1908 and S-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "26687004", "url": "https://glygen.org/publication/PubMed/26687004" } ] } ] }, { "uniprot_canonical_ac": "P08775-1", "start_pos": "1908", "end_pos": "1908", "site_lbl": "Lys1908", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of ubiquitination, no effect on interaction with WWP2; when associated with R-1859; R-1866; R-1873; R-1887 and R-1922. Loss of acetylation and loss of regulation of growth-factor-induced gene expression; when associated with R.1838; R-1859; R-1866; R-1873; R-1887; R-1922 and R-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "24207025", "url": "https://glygen.org/publication/PubMed/24207025" }, { "database": "PubMed", "id": "17526739", "url": "https://glygen.org/publication/PubMed/17526739" } ] }, { "sequence_org": "K", "sequence_mut": "S", "comment": "Loss of methylation and dimethylation but no effect on phosphorylation; when associated with S-1838; S-1859; S-1866; S-1873; S-1887; S-1922 and S-1936. Highly decreases methylation and dimethylation; when associated with S-1859; S-1866; S-1873; S-1887; S-1922 and S-1936. Decreases methylation but no effect on dimethylation; when associated with S-1859; S-1866; S-1887 and S-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "26687004", "url": "https://glygen.org/publication/PubMed/26687004" } ] } ] }, { "uniprot_canonical_ac": "P08775-1", "start_pos": "1922", "end_pos": "1922", "site_lbl": "Lys1922", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of ubiquitination, no effect on interaction with WWP2; when associated with R-1859; R-1866; R-1873; R-1887 and R-1908. Loss of acetylation and loss of regulation of growth-factor-induced gene expression; when associated with R-1838; R-1859; R-1866; R-1873; R-1887; R-1908 and R-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "24207025", "url": "https://glygen.org/publication/PubMed/24207025" }, { "database": "PubMed", "id": "17526739", "url": "https://glygen.org/publication/PubMed/17526739" } ] }, { "sequence_org": "K", "sequence_mut": "S", "comment": "Loss of methylation and dimethylation but no effect on phosphorylation; when associated with S-1838; S-1859; S-1866; S-1873; S-1887; S-1908 and S-1936. Highly decreases methylation and dimethylation; when associated with S-1859; S-1866; S-1873; S-1887; S-1908 and S-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "26687004", "url": "https://glygen.org/publication/PubMed/26687004" } ] } ] }, { "uniprot_canonical_ac": "P08775-1", "start_pos": "1936", "end_pos": "1936", "site_lbl": "Lys1936", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of acetylation and loss of regulation of growth-factor-induced gene expression; when associated with R-1838; R-1859; R-1866; R-1873; R-1887; R-1908 and R-1922.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "24207025", "url": "https://glygen.org/publication/PubMed/24207025" } ] }, { "sequence_org": "K", "sequence_mut": "S", "comment": "Loss of methylation and dimethylation but no effect on phosphorylation; when associated with S-1838; S-1859; S-1866; S-1873; S-1887; S-1908 and S-1922. Highly decreases methylation and dimethylation; when associated with S-1859; S-1866; S-1873; S-1887; S-1908 and S-1922. Decreases methylation but no effect on dimethylation; when associated with S-1859; S-1866 and S-1887.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "26687004", "url": "https://glygen.org/publication/PubMed/26687004" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q8JZS9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8JZS9", "url": "https://www.uniprot.org/uniprotkb/Q8JZS9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 211, "chemical_mass": 23953.0, "gene_names": "Mrpl48;1810030E20Rik;2610028L11Rik;CGI-118;D4Ertd786e;L48mt;MRP-L48;Mrpl48", "protein_name": "Large ribosomal subunit protein mL48", "disease": [], "cellular_component": [ { "name": "mitochondrial large ribosomal subunit", "id": "GO:0005762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005762", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS9", "url": "https://www.uniprot.org/uniprotkb/Q8JZS9" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS9", "url": "https://www.uniprot.org/uniprotkb/Q8JZS9" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS9", "url": "https://www.uniprot.org/uniprotkb/Q8JZS9" } ], "pmid": "" }, { "name": "mitochondrial ribosome", "id": "GO:0005761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005761", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS9", "url": "https://www.uniprot.org/uniprotkb/Q8JZS9" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS9", "url": "https://www.uniprot.org/uniprotkb/Q8JZS9" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS9", "url": "https://www.uniprot.org/uniprotkb/Q8JZS9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q9DCV4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DCV4", "url": "https://www.uniprot.org/uniprotkb/Q9DCV4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 305, "chemical_mass": 35000.0, "gene_names": "Rmdn1;Fam82b;RMD-1;Rmdn1", "protein_name": "Regulator of microtubule dynamics protein 1", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9DCV4", "url": "https://www.uniprot.org/uniprotkb/Q9DCV4" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9DCV4", "url": "https://www.uniprot.org/uniprotkb/Q9DCV4" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9DCV4", "url": "https://www.uniprot.org/uniprotkb/Q9DCV4" } ], "pmid": "" }, { "name": "spindle microtubule", "id": "GO:0005876", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005876", "evidence": [ { "database": "UniProtKB", "id": "Q9DCV4", "url": "https://www.uniprot.org/uniprotkb/Q9DCV4" } ], "pmid": "" }, { "name": "mitotic spindle pole", "id": "GO:0097431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097431", "evidence": [ { "database": "UniProtKB", "id": "Q9DCV4", "url": "https://www.uniprot.org/uniprotkb/Q9DCV4" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q9DCV4", "url": "https://www.uniprot.org/uniprotkb/Q9DCV4" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q9DCV4", "url": "https://www.uniprot.org/uniprotkb/Q9DCV4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "E9QAU8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 347, "chemical_mass": 39736.0, "gene_names": "Ark2c;2900024M11Rik;Akd2;Ark2c;G630064H08Rik;Gm96;Rnf165", "protein_name": "E3 ubiquitin-protein ligase ARK2C", "disease": [], "biological_process": [ { "name": "innervation", "id": "GO:0060384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060384", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" }, { "name": "positive regulation of BMP signaling pathway", "id": "GO:0030513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030513", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" }, { "name": "limb development", "id": "GO:0060173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060173", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" }, { "name": "forelimb morphogenesis", "id": "GO:0035136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035136", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" }, { "name": "muscle structure development", "id": "GO:0061061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061061", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "P49312-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P49312", "url": "https://www.uniprot.org/uniprotkb/P49312" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 320, "chemical_mass": 34196.0, "gene_names": "Hnrnpa1;Fli-2;HDP-1;Hdp;Hnrnpa1;Hnrpa1;Tis;hnRNP A1;hnrnp-A1", "protein_name": "Heterogeneous nuclear ribonucleoprotein A1", 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